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 IKZF5 64376 broad.mit.edu 37 10 124753954 124753954 + Missense_Mutation SNP G G A TCGA-D3-A2JL-06A-11D-A196-08 TCGA-D3-A2JL-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 06d6341f-cb6d-4a7e-9213-c7bb394aca56 bf91785e-7b33-4bd0-8ff5-c20c20b4e985 g.chr10:124753954G>A ENST00000368886.5 - 5 922 c.602C>T c.(601-603)cCa>cTa p.P201L PSTK_ENST00000497219.1_Intron NM_001271840.1 NP_001258769.1 Q9H5V7 IKZF5_HUMAN IKAROS family zinc finger 5 (Pegasus) 201 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding endometrium(2)|lung(3)|prostate(1) 6 all_neural(114;0.169)|Colorectal(57;0.178)|Glioma(114;0.222) Colorectal(40;0.0701)|COAD - Colon adenocarcinoma(40;0.0754) CATGGAAGGTGGACTTAAGTT 0.423000 72 113 0 0 0.000147903 0 0 TM7SF2 7108 broad.mit.edu 37 11 64883442 64883442 + Missense_Mutation SNP C C T TCGA-D3-A2JL-06A-11D-A196-08 TCGA-D3-A2JL-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 06d6341f-cb6d-4a7e-9213-c7bb394aca56 bf91785e-7b33-4bd0-8ff5-c20c20b4e985 g.chr11:64883442C>T ENST00000279263.7 + 10 1336 c.1174C>T c.(1174-1176)Cgg>Tgg p.R392W TM7SF2_ENST00000540748.1_Missense_Mutation_p.R276W|TM7SF2_ENST00000345348.5_Missense_Mutation_p.R365W NM_003273.2 NP_003264.2 O76062 ERG24_HUMAN transmembrane 7 superfamily member 2 392 cholesterol biosynthetic process endoplasmic reticulum membrane|integral to plasma membrane delta14-sterol reductase activity lung(14)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 18 CCGGGATGAGCGGCAGTGCCT 0.627000 10 17 0 0 3.86212e-05 0 0 KEL 3792 broad.mit.edu 37 7 142640645 142640645 + Missense_Mutation SNP G G A TCGA-D3-A2JL-06A-11D-A196-08 TCGA-D3-A2JL-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 06d6341f-cb6d-4a7e-9213-c7bb394aca56 bf91785e-7b33-4bd0-8ff5-c20c20b4e985 g.chr7:142640645G>A ENST00000355265.2 - 15 2105 c.1631C>T c.(1630-1632)tCg>tTg p.S544L NM_000420.2 NP_000411.1 P23276 KELL_HUMAN Kell blood group, metallo-endopeptidase 544 proteolysis|vasoconstriction integral to membrane|plasma membrane metal ion binding|metalloendopeptidase activity|protein binding central_nervous_system(1)|endometrium(3)|kidney(5)|large_intestine(11)|lung(34)|ovary(3)|prostate(2)|skin(1) 60 Melanoma(164;0.059) GTCAGATACCGAATAGTAAGC 0.557000 8 96 0 0 3.86212e-05 0 0 BDP1 55814 broad.mit.edu 37 5 70793195 70793195 + Missense_Mutation SNP C C T TCGA-D3-A2JL-06A-11D-A196-08 TCGA-D3-A2JL-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 06d6341f-cb6d-4a7e-9213-c7bb394aca56 bf91785e-7b33-4bd0-8ff5-c20c20b4e985 g.chr5:70793195C>T ENST00000358731.4 + 13 2161 c.1898C>T c.(1897-1899)tCa>tTa p.S633L BDP1_ENST00000380675.2_5'UTR NM_018429.2 NP_060899.2 A6H8Y1 BDP1_HUMAN B double prime 1, subunit of RNA polymerase III transcription initiation factor IIIB 633 regulation of transcription, DNA-dependent|transcription from RNA polymerase III promoter nucleoplasm DNA binding NS(2)|breast(3)|cervix(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(13)|lung(34)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 72 Lung NSC(167;0.000422)|Prostate(74;0.00815)|Ovarian(174;0.0176)|Breast(144;0.198) OV - Ovarian serous cystadenocarcinoma(47;5.28e-56)|Epithelial(20;2.31e-50) TCAGTTCTTTCACAAGGCAAA 0.353000 24 38 0 0 0.000147802 0 0 NLRP7 199713 broad.mit.edu 37 19 55450542 55450542 + Missense_Mutation SNP C C T TCGA-D3-A2JL-06A-11D-A196-08 TCGA-D3-A2JL-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 06d6341f-cb6d-4a7e-9213-c7bb394aca56 bf91785e-7b33-4bd0-8ff5-c20c20b4e985 g.chr19:55450542C>T ENST00000446217.1 - 6 2131 c.1729G>A c.(1729-1731)Gaa>Aaa p.E577K NLRP7_ENST00000340844.2_Missense_Mutation_p.E549K|NLRP7_ENST00000588756.1_Missense_Mutation_p.E549K|NLRP7_ENST00000328092.5_Missense_Mutation_p.E549K|NLRP7_ENST00000592784.1_Missense_Mutation_p.E549K|NLRP7_ENST00000590030.1_Missense_Mutation_p.E549K|NLRP7_ENST00000448121.2_Missense_Mutation_p.E549K Q8WX94 NALP7_HUMAN NLR family, pyrin domain containing 7 549 ATP binding autonomic_ganglia(1)|breast(2)|central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(17)|liver(1)|lung(33)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(3) 73 GBM - Glioblastoma multiforme(193;0.0325) TGCAGCAATTCCTGTTTGATG 0.512000 14 59 0 0 0.000308642 0 0 PLIN4 729359 broad.mit.edu 37 19 4511995 4511995 + Silent SNP G G A TCGA-D3-A2JL-06A-11D-A196-08 TCGA-D3-A2JL-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 06d6341f-cb6d-4a7e-9213-c7bb394aca56 bf91785e-7b33-4bd0-8ff5-c20c20b4e985 g.chr19:4511995G>A ENST00000301286.3 - 3 1934 c.1935C>T c.(1933-1935)atC>atT p.I645I NM_001080400.1 NP_001073869.1 Q96Q06 PLIN4_HUMAN perilipin 4 645 27 X 33 AA approximate tandem repeat. lipid particle|plasma membrane NS(2)|breast(4)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|lung(14)|ovary(1)|skin(2)|soft_tissue(1)|stomach(2) 41 TACCTGTCGCGATATTTTGGG 0.572000 35 62 0 0 7.24521e-05 0 0 CLUH 23277 broad.mit.edu 37 17 2603696 2603696 + Nonsense_Mutation SNP G G A TCGA-D3-A2JL-06A-11D-A196-08 TCGA-D3-A2JL-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 06d6341f-cb6d-4a7e-9213-c7bb394aca56 bf91785e-7b33-4bd0-8ff5-c20c20b4e985 g.chr17:2603696G>A ENST00000570628.1 - 9 1237 c.1132C>T c.(1132-1134)Cga>Tga p.R378* CLUH_ENST00000538975.1_Nonsense_Mutation_p.R378*|CLUH_ENST00000435359.1_Nonsense_Mutation_p.R378*|CLUH_ENST00000575014.1_Nonsense_Mutation_p.R310* clustered mitochondria (cluA/CLU1) homolog GCCCTTTCTCGGAGCAGCCGC 0.602000 5 25 0 0 1.23904e-05 0 0 RIN3 79890 broad.mit.edu 37 14 93151488 93151488 + Missense_Mutation SNP C C T TCGA-D3-A2JL-06A-11D-A196-08 TCGA-D3-A2JL-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 06d6341f-cb6d-4a7e-9213-c7bb394aca56 bf91785e-7b33-4bd0-8ff5-c20c20b4e985 g.chr14:93151488C>T ENST00000216487.7 + 9 2783 c.2624C>T c.(2623-2625)tCc>tTc p.S875F RIN3_ENST00000418924.2_3'UTR NM_024832.3 NP_079108.3 Q8TB24 RIN3_HUMAN Ras and Rab interactor 3 875 endocytosis|signal transduction cytoplasmic membrane-bounded vesicle|early endosome GTPase activator activity|Ras GTPase binding p.S875F(1) endometrium(4)|kidney(2)|large_intestine(7)|lung(19)|ovary(1)|prostate(1)|skin(1)|urinary_tract(1) 36 all_cancers(154;0.0701) TCCCGCTCCTCCGTACAGGTG 0.672000 4 12 0 0 0.00024832 0 0 AMY2B 280 broad.mit.edu 37 1 104114369 104114369 + Missense_Mutation SNP C C T rs141409903 TCGA-D3-A2JL-06A-11D-A196-08 TCGA-D3-A2JL-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 06d6341f-cb6d-4a7e-9213-c7bb394aca56 bf91785e-7b33-4bd0-8ff5-c20c20b4e985 g.chr1:104114369C>T ENST00000361355.4 + 3 761 c.145C>T c.(145-147)Ccc>Tcc p.P49S AMY2B_ENST00000491397.1_3'UTR NM_020978.3 NP_066188.1 P19961 AMY2B_HUMAN amylase, alpha 2B (pancreatic) 49 carbohydrate metabolic process|digestion extracellular region alpha-amylase activity|metal ion binding breast(1)|endometrium(7)|kidney(4)|large_intestine(1)|lung(30)|prostate(1)|skin(1)|urinary_tract(1) 46 all_epithelial(167;3.05e-05)|all_lung(203;0.000199)|Lung NSC(277;0.000451) Colorectal(144;0.0669)|all cancers(265;0.083)|Epithelial(280;0.094)|Lung(183;0.112) ATATTTAGCTCCCAAGGGATT 0.403000 14 107 0 0 9.22233e-05 0 0 SNTG2 54221 broad.mit.edu 37 2 1161240 1161240 + Silent SNP C C T TCGA-D3-A2JL-06A-11D-A196-08 TCGA-D3-A2JL-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 06d6341f-cb6d-4a7e-9213-c7bb394aca56 bf91785e-7b33-4bd0-8ff5-c20c20b4e985 g.chr2:1161240C>T ENST00000308624.5 + 7 547 c.418C>T c.(418-420)Ctg>Ttg p.L140L SNTG2_ENST00000407292.1_Intron|SNTG2_ENST00000467759.1_3'UTR NM_018968.3 NP_061841.2 Q9NY99 SNTG2_HUMAN syntrophin, gamma 2 140 PDZ. central nervous system development cytoplasm|cytoskeleton|sarcolemma|syntrophin complex actin binding|PDZ domain binding breast(1)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(9)|lung(20)|ovary(1)|pancreas(1)|prostate(2)|skin(2)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1) 52 Acute lymphoblastic leukemia(172;0.0627)|all_hematologic(175;0.0797) all_cancers(51;0.00469) all cancers(51;0.0178)|OV - Ovarian serous cystadenocarcinoma(76;0.07)|Epithelial(75;0.0864)|GBM - Glioblastoma multiforme(21;0.173) ACAGGTGCATCTGCTGAGAAA 0.433000 37 83 0 0 0.000374591 0 0 KIAA0226L 80183 broad.mit.edu 37 13 46917568 46917568 + Missense_Mutation SNP G G A TCGA-D3-A2JL-06A-11D-A196-08 TCGA-D3-A2JL-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 06d6341f-cb6d-4a7e-9213-c7bb394aca56 bf91785e-7b33-4bd0-8ff5-c20c20b4e985 g.chr13:46917568G>A ENST00000378797.2 - 14 2391 c.1787C>T c.(1786-1788)tCa>tTa p.S596L KIAA0226L_ENST00000378787.3_Missense_Mutation_p.S596L|KIAA0226L_ENST00000378784.4_Silent_p.I580I|KIAA0226L_ENST00000429979.1_Silent_p.I647I|KIAA0226L_ENST00000322896.6_Silent_p.I490I|KIAA0226L_ENST00000378781.3_3'UTR|KIAA0226L_ENST00000389908.3_Silent_p.I647I|KIAA0226L_ENST00000409879.2_Silent_p.I490I|KIAA0226L_ENST00000534925.1_Silent_p.I512I Q9H714 CM018_HUMAN KIAA0226-like 0 NS(2)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(8)|lung(7)|pancreas(1) 26 TCCTCGCTGTGATCCTCGCAC 0.527000 6 27 0 0 8.12818e-05 0 0 DSC3 1825 broad.mit.edu 37 18 28605779 28605779 + Missense_Mutation SNP C C T TCGA-D3-A2JL-06A-11D-A196-08 TCGA-D3-A2JL-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 06d6341f-cb6d-4a7e-9213-c7bb394aca56 bf91785e-7b33-4bd0-8ff5-c20c20b4e985 g.chr18:28605779C>T ENST00000434452.1 - 5 731 c.577G>A c.(577-579)Gga>Aga p.G193R DSC3_ENST00000360428.4_Missense_Mutation_p.G193R NM_024423.2 NP_077741.2 Q14574 DSC3_HUMAN desmocollin 3 193 Cadherin 1. homophilic cell adhesion|protein stabilization desmosome|integral to membrane|membrane fraction calcium ion binding|gamma-catenin binding endometrium(6)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(6)|lung(29)|ovary(2)|prostate(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 56 OV - Ovarian serous cystadenocarcinoma(10;0.125) AATAGATTTCCAGTGTCTCTT 0.333000 7 23 0 0 8.12818e-05 0 0 ZNF783 100289678 broad.mit.edu 37 7 148978696 148978696 + Silent SNP C C T TCGA-D3-A2JL-06A-11D-A196-08 TCGA-D3-A2JL-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 06d6341f-cb6d-4a7e-9213-c7bb394aca56 bf91785e-7b33-4bd0-8ff5-c20c20b4e985 g.chr7:148978696C>T ENST00000434415.1 + 6 1066 c.903C>T c.(901-903)atC>atT p.I301I ZNF783_ENST00000489518.1_Intron NM_001195220.1 NP_001182149.1 C9J9J2 C9J9J2_HUMAN zinc finger family member 783 301 regulation of transcription, DNA-dependent intracellular nucleic acid binding|zinc ion binding cervix(1)|endometrium(2)|kidney(2)|large_intestine(6)|lung(10)|prostate(1) 22 Melanoma(164;0.15) OV - Ovarian serous cystadenocarcinoma(82;0.0014) AGTGTAGAATCCCCCGAGGGC 0.687000 14 57 0 0 0.000151284 0 0 TBC1D32 221322 broad.mit.edu 37 6 121481215 121481215 + Missense_Mutation SNP G G A TCGA-D3-A2JL-06A-11D-A196-08 TCGA-D3-A2JL-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 06d6341f-cb6d-4a7e-9213-c7bb394aca56 bf91785e-7b33-4bd0-8ff5-c20c20b4e985 g.chr6:121481215G>A ENST00000275159.6 - 25 2836 c.2837C>T c.(2836-2838)tCa>tTa p.S946L TBC1D32_ENST00000398212.2_Missense_Mutation_p.S905L|TBC1D32_ENST00000398197.2_5'UTR TBC1 domain family, member 32 p.S905L(1) CAATGGATATGATGAAAACAT 0.303000 25 101 0 0 0.000147802 0 0 KCNQ5 56479 broad.mit.edu 37 6 73905049 73905049 + Missense_Mutation SNP G G A TCGA-D3-A2JL-06A-11D-A196-08 TCGA-D3-A2JL-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 06d6341f-cb6d-4a7e-9213-c7bb394aca56 bf91785e-7b33-4bd0-8ff5-c20c20b4e985 g.chr6:73905049G>A ENST00000342056.2 + 15 3166 c.2768G>A c.(2767-2769)aGg>aAg p.R923K KCNQ5_ENST00000355194.4_Missense_Mutation_p.R904K|KCNQ5_ENST00000403813.2_Missense_Mutation_p.R895K|KCNQ5_ENST00000355635.3_Missense_Mutation_p.R905K|KCNQ5_ENST00000414165.2_Missense_Mutation_p.R794K|KCNQ5_ENST00000402622.2_Missense_Mutation_p.R914K|KCNQ5_ENST00000370398.1_Missense_Mutation_p.R904K NM_001160132.1|NM_001160133.1 NP_001153604.1|NP_001153605.1 Q9NR82 KCNQ5_HUMAN potassium voltage-gated channel, KQT-like subfamily, member 5 904 protein complex assembly|synaptic transmission voltage-gated potassium channel complex inward rectifier potassium channel activity breast(1)|cervix(1)|endometrium(6)|kidney(7)|large_intestine(13)|lung(15)|ovary(4)|pancreas(1)|prostate(2)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1) 57 all_epithelial(107;0.116)|Lung NSC(302;0.219) COAD - Colon adenocarcinoma(1;0.0107)|Colorectal(1;0.0583) GACTCTCTAAGGACTGGAAGG 0.483000 29 33 0 0 0.000279167 0 0 SNHG14 104472715 broad.mit.edu 37 15 25342814 25342814 + RNA SNP C C T TCGA-D3-A2JL-06A-11D-A196-08 TCGA-D3-A2JL-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 06d6341f-cb6d-4a7e-9213-c7bb394aca56 bf91785e-7b33-4bd0-8ff5-c20c20b4e985 g.chr15:25342814C>T ENST00000546682.1 + 0 1229 SNHG14_ENST00000553108.1_RNA|SNHG14_ENST00000549804.2_RNA|SNORD116-25_ENST00000516517.1_RNA NR_003361.1 GTGCCTGGATCGATGATGACT 0.478000 6 23 0 0 8.12818e-05 0 0 HDAC5 10014 broad.mit.edu 37 17 42156583 42156583 + Missense_Mutation SNP C C T TCGA-D3-A2JL-06A-11D-A196-08 TCGA-D3-A2JL-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 06d6341f-cb6d-4a7e-9213-c7bb394aca56 bf91785e-7b33-4bd0-8ff5-c20c20b4e985 g.chr17:42156583C>T ENST00000225983.6 - 24 3333 c.3010G>A c.(3010-3012)Gag>Aag p.E1004K HDAC5_ENST00000393622.2_Missense_Mutation_p.E1003K|HDAC5_ENST00000336057.5_Missense_Mutation_p.E918K|HDAC5_ENST00000586802.1_Missense_Mutation_p.E1003K Q9UQL6 HDAC5_HUMAN histone deacetylase 5 1003 Histone deacetylase. B cell differentiation|cellular response to insulin stimulus|chromatin remodeling|chromatin silencing|inflammatory response|negative regulation of cell migration involved in sprouting angiogenesis|negative regulation of myotube differentiation|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 protein binding|transcription, DNA-dependent cytoplasm|histone deacetylase complex histone deacetylase activity (H3-K16 specific)|NAD-dependent histone deacetylase activity (H3-K14 specific)|NAD-dependent histone deacetylase activity (H3-K9 specific)|NAD-dependent histone deacetylase activity (H4-K16 specific)|protein kinase C binding|repressing transcription factor binding central_nervous_system(1)|endometrium(5)|large_intestine(4)|lung(7)|ovary(1)|prostate(2)|skin(1) 21 Breast(137;0.00637)|Prostate(33;0.0313) BRCA - Breast invasive adenocarcinoma(366;0.118) TGGCCTCCCTCCAGGGCCAGC 0.607000 29 26 0 0 0.000117367 0 0 NLRP11 204801 broad.mit.edu 37 19 56321664 56321664 + Silent SNP G G A TCGA-D3-A2JL-06A-11D-A196-08 TCGA-D3-A2JL-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 06d6341f-cb6d-4a7e-9213-c7bb394aca56 bf91785e-7b33-4bd0-8ff5-c20c20b4e985 g.chr19:56321664G>A ENST00000443188.1 - 5 1022 c.312C>T c.(310-312)ttC>ttT p.F104F NLRP11_ENST00000589093.1_Silent_p.F104F|NLRP11_ENST00000360133.3_Silent_p.F104F|NLRP11_ENST00000592953.1_Silent_p.F5F|NLRP11_ENST00000589824.2_Silent_p.F104F NM_145007.3 NP_659444.2 P59045 NAL11_HUMAN NLR family, pyrin domain containing 11 104 ATP binding NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(4)|kidney(1)|large_intestine(14)|lung(22)|ovary(3)|pancreas(1)|prostate(1)|skin(5)|stomach(2)|upper_aerodigestive_tract(3) 66 Colorectal(82;0.0002) GBM - Glioblastoma multiforme(193;0.0325) ATTGCAGCATGAATTTTCTCC 0.368000 6 20 0 0 8.12818e-05 0 0 SPOP 8405 broad.mit.edu 37 17 47684678 47684678 + Silent SNP G G A TCGA-D3-A2JL-06A-11D-A196-08 TCGA-D3-A2JL-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 06d6341f-cb6d-4a7e-9213-c7bb394aca56 bf91785e-7b33-4bd0-8ff5-c20c20b4e985 g.chr17:47684678G>A ENST00000393331.3 - 10 1241 c.771C>T c.(769-771)ttC>ttT p.F257F SPOP_ENST00000393328.2_Silent_p.F257F|SPOP_ENST00000504102.1_Silent_p.F257F|SPOP_ENST00000347630.2_Silent_p.F257F|SPOP_ENST00000503676.1_Silent_p.F257F NM_001007226.1|NM_001007227.1 NP_001007227.1|NP_001007228.1 O43791 SPOP_HUMAN speckle-type POZ protein 257 BTB. mRNA processing nucleus protein binding endometrium(18)|kidney(1)|large_intestine(3)|liver(1)|lung(4)|ovary(3)|prostate(33) 63 CCGTGTAAATGAAGCACATCA 0.393000 Prostate(2;0.17) 18 20 0 0 0.000132079 0 0 NXF3 56000 broad.mit.edu 37 X 102338596 102338596 + Missense_Mutation SNP C C T TCGA-D3-A2JL-06A-11D-A196-08 TCGA-D3-A2JL-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 06d6341f-cb6d-4a7e-9213-c7bb394aca56 bf91785e-7b33-4bd0-8ff5-c20c20b4e985 g.chrX:102338596C>T ENST00000395065.3 - 4 477 c.376G>A c.(376-378)Gag>Aag p.E126K NXF3_ENST00000425644.1_5'UTR|NXF3_ENST00000425463.2_Missense_Mutation_p.E37K NM_022052.1 NP_071335.1 Q9H4D5 NXF3_HUMAN nuclear RNA export factor 3 126 RRM. cytoplasm|nuclear RNA export factor complex nucleocytoplasmic transporter activity|nucleotide binding|protein binding NS(1)|central_nervous_system(1)|cervix(1)|kidney(1)|large_intestine(2)|lung(15)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1) 26 AGCCACTTCTCATTGTATTTT 0.418000 43 73 0 0 8.96297e-05 0 0 ADAM21P1 145241 broad.mit.edu 37 14 70713603 70713603 + RNA SNP C C T TCGA-D3-A2JL-06A-11D-A196-08 TCGA-D3-A2JL-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 06d6341f-cb6d-4a7e-9213-c7bb394aca56 bf91785e-7b33-4bd0-8ff5-c20c20b4e985 g.chr14:70713603C>T ENST00000530196.1 - 0 915 NR_003951.1 TTCCAAATTTCAATTCCAATC 0.363000 20 48 0 0 9.7654e-05 0 0 DUSP9 1852 broad.mit.edu 37 X 152914836 152914836 + Missense_Mutation SNP G G A TCGA-D3-A2JL-06A-11D-A196-08 TCGA-D3-A2JL-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 06d6341f-cb6d-4a7e-9213-c7bb394aca56 bf91785e-7b33-4bd0-8ff5-c20c20b4e985 g.chrX:152914836G>A ENST00000342782.3 + 3 788 c.523G>A c.(523-525)Gaa>Aaa p.E175K DUSP9_ENST00000370167.4_Missense_Mutation_p.E175K Q99956 DUS9_HUMAN dual specificity phosphatase 9 175 inactivation of MAPK activity|JNK cascade cytosol|endoplasmic reticulum|nucleus MAP kinase tyrosine/serine/threonine phosphatase activity|protein tyrosine phosphatase activity breast(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(9)|ovary(2)|prostate(1) 16 all_hematologic(71;4.25e-06)|Acute lymphoblastic leukemia(192;6.56e-05) CTCTGATGCGGAATCCGAGGC 0.692000 10 49 0 0 0.00010058 0 0 RADIL 55698 broad.mit.edu 37 7 4841435 4841435 + Silent SNP C C T TCGA-D3-A2JL-06A-11D-A196-08 TCGA-D3-A2JL-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 06d6341f-cb6d-4a7e-9213-c7bb394aca56 bf91785e-7b33-4bd0-8ff5-c20c20b4e985 g.chr7:4841435C>T ENST00000399583.3 - 12 2878 c.2691G>A c.(2689-2691)acG>acA p.T897T RADIL_ENST00000536091.1_3'UTR|RADIL_ENST00000538469.1_Silent_p.T657T NM_018059.4 NP_060529.4 Q96JH8 RADIL_HUMAN Ras association and DIL domains 897 Pro-rich. cell adhesion|multicellular organismal development|signal transduction protein binding NS(1)|biliary_tract(2)|breast(1)|central_nervous_system(3)|endometrium(2)|large_intestine(2)|lung(22)|pancreas(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 41 Ovarian(82;0.0175) UCEC - Uterine corpus endometrioid carcinoma (126;0.0986)|OV - Ovarian serous cystadenocarcinoma(56;7.41e-15) AGGACGAGTCCGTGTGCGGGG 0.721000 10 17 0 0 0.000219431 0 0 OBSCN 84033 broad.mit.edu 37 1 228487200 228487200 + Missense_Mutation SNP C C T TCGA-D3-A2JL-06A-11D-A196-08 TCGA-D3-A2JL-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 06d6341f-cb6d-4a7e-9213-c7bb394aca56 bf91785e-7b33-4bd0-8ff5-c20c20b4e985 g.chr1:228487200C>T ENST00000570156.2 + 50 13525 c.13451C>T c.(13450-13452)aCc>aTc p.T4484I RP5-1139B12.4_ENST00000602778.1_RNA|OBSCN_ENST00000284548.11_Intron|OBSCN_ENST00000422127.1_Intron|OBSCN_ENST00000366707.4_Missense_Mutation_p.T1174I|OBSCN_ENST00000366709.4_Intron|OBSCN_ENST00000359599.6_3'UTR NM_001271223.2 NP_001258152.2 Q5VST9 OBSCN_HUMAN obscurin, cytoskeletal calmodulin and titin-interacting RhoGEF 3527 Ig-like 46. 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) CAGGAGAGGACCTCAGCTACA 0.542000 39 87 0 0 8.96297e-05 0 0 HECTD4 283450 broad.mit.edu 37 12 112672931 112672931 + Silent SNP G G A TCGA-D3-A2JL-06A-11D-A196-08 TCGA-D3-A2JL-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 06d6341f-cb6d-4a7e-9213-c7bb394aca56 bf91785e-7b33-4bd0-8ff5-c20c20b4e985 g.chr12:112672931G>A ENST00000550722.1 - 37 5822 c.5427C>T c.(5425-5427)atC>atT p.I1809I HECTD4_ENST00000430131.2_Silent_p.I1533I|HECTD4_ENST00000377560.5_Silent_p.I1783I NM_001109662.3 NP_001103132.3 HECT domain containing E3 ubiquitin protein ligase 4 CCCGCTTGTGGATAAATATCG 0.468000 3 8 0 0 6.4e-05 0 0 PLXNC1 10154 broad.mit.edu 37 12 94673381 94673381 + Missense_Mutation SNP A A G TCGA-D3-A2JL-06A-11D-A196-08 TCGA-D3-A2JL-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 06d6341f-cb6d-4a7e-9213-c7bb394aca56 bf91785e-7b33-4bd0-8ff5-c20c20b4e985 g.chr12:94673381A>G ENST00000258526.4 + 22 3980 c.3731A>G c.(3730-3732)aAa>aGa p.K1244R RP11-1105G2.3_ENST00000551941.1_Intron|PLXNC1_ENST00000545312.1_5'UTR|PLXNC1_ENST00000547057.1_Missense_Mutation_p.K291R NM_005761.2 NP_005752.1 O60486 PLXC1_HUMAN plexin C1 1244 axon guidance|cell adhesion integral to membrane|intracellular|plasma membrane receptor activity|receptor binding breast(2)|central_nervous_system(1)|cervix(2)|endometrium(4)|kidney(4)|large_intestine(12)|lung(30)|ovary(2)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1) 64 TTCTTAAGCAAAAATGGCTCT 0.478000 17 84 0 0 0.000175454 0 0 TLR9 54106 broad.mit.edu 37 3 52255864 52255864 + Missense_Mutation SNP A A G TCGA-D3-A2JL-06A-11D-A196-08 TCGA-D3-A2JL-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 06d6341f-cb6d-4a7e-9213-c7bb394aca56 bf91785e-7b33-4bd0-8ff5-c20c20b4e985 g.chr3:52255864A>G ENST00000597542.1 - 9 3497 c.2540T>C c.(2539-2541)cTg>cCg p.L847P TLR9_ENST00000360658.2_Missense_Mutation_p.L823P|TLR9_ENST00000494383.1_Silent_p.A976A Q9NR96 TLR9_HUMAN toll-like receptor 9 823 defense response to bacterium|fibroblast growth factor receptor signaling pathway|I-kappaB phosphorylation|inflammatory response|innate immune response|insulin receptor signaling pathway|maintenance of gastrointestinal epithelium|negative regulation of interleukin-6 production|negative regulation of interleukin-8 production|negative regulation of NF-kappaB transcription factor activity|negative regulation of toll-like receptor signaling pathway|positive regulation of chemokine production|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of interferon-alpha biosynthetic process|positive regulation of interferon-beta biosynthetic process|positive regulation of interferon-beta production|positive regulation of interferon-gamma biosynthetic process|positive regulation of interleukin-10 production|positive regulation of interleukin-12 production|positive regulation of interleukin-18 production|positive regulation of interleukin-6 production|positive regulation of interleukin-8 production|positive regulation of JUN kinase activity|positive regulation of NF-kappaB import into nucleus|positive regulation of NF-kappaB transcription factor activity|positive regulation of nitric-oxide synthase biosynthetic process|positive regulation of toll-like receptor signaling pathway|positive regulation of transcription from RNA polymerase II promoter|positive regulation of tumor necrosis factor production|response to molecule of bacterial origin apical plasma membrane|basolateral plasma membrane|early phagosome|endoplasmic reticulum membrane|endosome membrane|extracellular region|integral to membrane|lysosome interleukin-1 receptor binding|siRNA binding|transmembrane receptor activity endometrium(4)|large_intestine(11)|lung(9)|prostate(2)|skin(3)|upper_aerodigestive_tract(1) 30 BRCA - Breast invasive adenocarcinoma(193;2.41e-05)|Kidney(197;0.000537)|KIRC - Kidney renal clear cell carcinoma(197;0.000716) Chloroquine(DB00608) CACAGCCAGCAGCGAGAGGGC 0.657000 9 13 0 0 2.17888e-05 0 0 TRAV12-2 28673 broad.mit.edu 37 14 22356678 22356678 + RNA SNP G G A TCGA-D3-A2JL-06A-11D-A196-08 TCGA-D3-A2JL-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 06d6341f-cb6d-4a7e-9213-c7bb394aca56 bf91785e-7b33-4bd0-8ff5-c20c20b4e985 g.chr14:22356678G>A ENST00000390437.2 + 0 441 TCTGTGCCGTGAACACACAGT 0.532000 48 108 0 0 0.000147903 0 0 MUC16 94025 broad.mit.edu 37 19 9072100 9072100 + Missense_Mutation SNP C C T TCGA-D3-A2JL-06A-11D-A196-08 TCGA-D3-A2JL-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 06d6341f-cb6d-4a7e-9213-c7bb394aca56 bf91785e-7b33-4bd0-8ff5-c20c20b4e985 g.chr19:9072100C>T ENST00000397910.4 - 3 15549 c.15346G>A c.(15346-15348)Gaa>Aaa p.E5116K NM_024690.2 NP_078966.2 Q8WXI7 MUC16_HUMAN mucin 16, cell surface associated 5118 Thr-rich. cell adhesion extracellular space|extrinsic to membrane|integral to membrane|plasma membrane protein binding NS(9)|autonomic_ganglia(1)|breast(26)|central_nervous_system(11)|cervix(1)|endometrium(46)|haematopoietic_and_lymphoid_tissue(5)|kidney(35)|large_intestine(91)|liver(1)|lung(278)|ovary(17)|pancreas(2)|prostate(17)|skin(18)|soft_tissue(1)|stomach(8)|upper_aerodigestive_tract(16)|urinary_tract(7) 590 GGAAAAATTTCCTTTGTGTCT 0.443000 4 29 0 0 0.00024832 0 0 CHL1 10752 broad.mit.edu 37 3 407753 407753 + Missense_Mutation SNP G G A rs138000940 byFrequency TCGA-D3-A2JL-06A-11D-A196-08 TCGA-D3-A2JL-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 06d6341f-cb6d-4a7e-9213-c7bb394aca56 bf91785e-7b33-4bd0-8ff5-c20c20b4e985 g.chr3:407753G>A ENST00000256509.2 + 15 2348 c.1706G>A c.(1705-1707)aGt>aAt p.S569N CHL1_ENST00000397491.2_Missense_Mutation_p.S553N|CHL1-AS1_ENST00000417612.1_RNA NM_001253387.1|NM_001253388.1|NM_006614.3 NP_001240316.1|NP_001240317.1|NP_006605.2 O00533 CHL1_HUMAN cell adhesion molecule L1-like 553 Ig-like C2-type 6. axon guidance|cell adhesion|signal transduction integral to membrane|plasma membrane|proteinaceous extracellular matrix NS(1)|central_nervous_system(5)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(25)|lung(31)|ovary(1)|prostate(4)|skin(10)|stomach(1) 93 all_cancers(2;1.14e-06)|all_epithelial(2;0.00367)|all_lung(1;0.061)|Lung NSC(2;0.201) Epithelial(13;5.36e-06)|all cancers(10;1.4e-05)|OV - Ovarian serous cystadenocarcinoma(96;0.00323)|COAD - Colon adenocarcinoma(1;0.00925)|Colorectal(20;0.0198) TTGTCCTGGAGTAAAGATGGA 0.368000 7 18 0 0 0.000274275 0 0 SHROOM2 357 broad.mit.edu 37 X 9863311 9863311 + Missense_Mutation SNP G G A TCGA-D3-A2JL-06A-11D-A196-08 TCGA-D3-A2JL-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 06d6341f-cb6d-4a7e-9213-c7bb394aca56 bf91785e-7b33-4bd0-8ff5-c20c20b4e985 g.chrX:9863311G>A ENST00000380913.3 + 4 1453 c.1363G>A c.(1363-1365)Gac>Aac p.D455N NM_001649.2 NP_001640.1 Q13796 SHRM2_HUMAN shroom family member 2 455 apical protein localization|brain development|cell migration|cell morphogenesis|cellular pigment accumulation|ear development|establishment of melanosome localization|eye pigment granule organization|lens morphogenesis in camera-type eye|melanosome organization apical plasma membrane|cell-cell adherens junction|microtubule|tight junction actin filament binding|beta-catenin binding|ligand-gated sodium channel activity breast(4)|central_nervous_system(2)|cervix(3)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(13)|ovary(3)|prostate(3)|skin(6)|upper_aerodigestive_tract(2) 57 Hepatocellular(5;0.000888) CTTCCAGAACGACAGCCCTCC 0.672000 14 52 0 0 0.000151284 0 0 FAM71B 153745 broad.mit.edu 37 5 156589596 156589596 + Silent SNP G G A TCGA-D3-A2JL-06A-11D-A196-08 TCGA-D3-A2JL-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 06d6341f-cb6d-4a7e-9213-c7bb394aca56 bf91785e-7b33-4bd0-8ff5-c20c20b4e985 g.chr5:156589596G>A ENST00000302938.4 - 2 1775 c.1680C>T c.(1678-1680)atC>atT p.I560I NM_130899.2 NP_570969.2 Q8TC56 FA71B_HUMAN family with sequence similarity 71, member B 560 nucleus NS(3)|breast(1)|central_nervous_system(3)|cervix(1)|endometrium(2)|kidney(5)|large_intestine(10)|lung(32)|ovary(4)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2) 68 Renal(175;0.00212) Medulloblastoma(196;0.0523)|all_neural(177;0.21) Kidney(164;0.000171)|KIRC - Kidney renal clear cell carcinoma(164;0.000785) TCTTAGCCACGATATCTACCT 0.483000 122 150 0 0 0.000147903 0 0 C6orf10 10665 broad.mit.edu 37 6 32261009 32261009 + Silent SNP G G A TCGA-D3-A2JL-06A-11D-A196-08 TCGA-D3-A2JL-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 06d6341f-cb6d-4a7e-9213-c7bb394aca56 bf91785e-7b33-4bd0-8ff5-c20c20b4e985 g.chr6:32261009G>A ENST00000375015.4 - 26 1638 c.1438C>T c.(1438-1440)Cta>Tta p.L480L C6orf10_ENST00000447241.2_Silent_p.L481L|C6orf10_ENST00000442822.2_Intron|C6orf10_ENST00000375007.4_Silent_p.L479L|C6orf10_ENST00000533191.1_Silent_p.L479L|C6orf10_ENST00000527965.1_Silent_p.L465L Q5SRN2 CF010_HUMAN chromosome 6 open reading frame 10 481 Lys-rich. integral to membrane cervix(1)|endometrium(2)|kidney(1)|large_intestine(7)|lung(12)|ovary(1)|skin(1) 25 TGTCCTTTTAGTACACCTGAC 0.403000 13 51 0 0 5.01169e-05 0 0 CPEB3 22849 broad.mit.edu 37 10 93851667 93851667 + Missense_Mutation SNP T T C TCGA-D3-A2JL-06A-11D-A196-08 TCGA-D3-A2JL-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 06d6341f-cb6d-4a7e-9213-c7bb394aca56 bf91785e-7b33-4bd0-8ff5-c20c20b4e985 g.chr10:93851667T>C ENST00000412050.4 - 8 1653 c.1565A>G c.(1564-1566)gAc>gGc p.D522G CPEB3_ENST00000265997.4_Missense_Mutation_p.D536G NM_001178137.1 NP_001171608.1 Q8NE35 CPEB3_HUMAN cytoplasmic polyadenylation element binding protein 3 536 RRM 1. nucleotide binding|RNA binding breast(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(5)|lung(5)|skin(2)|upper_aerodigestive_tract(2) 18 Colorectal(252;0.0869) CATTACAAAGTCACTGTCACT 0.428000 15 27 0 0 7.07596e-05 0 0 DPH2 1802 broad.mit.edu 37 1 44436352 44436352 + Missense_Mutation SNP T T C TCGA-D3-A2JL-06A-11D-A196-08 TCGA-D3-A2JL-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 06d6341f-cb6d-4a7e-9213-c7bb394aca56 bf91785e-7b33-4bd0-8ff5-c20c20b4e985 g.chr1:44436352T>C ENST00000255108.3 + 2 404 c.232T>C c.(232-234)Ttc>Ctc p.F78L DPH2_ENST00000529729.1_3'UTR|DPH2_ENST00000396758.2_Missense_Mutation_p.F78L|DPH2_ENST00000412950.2_Silent_p.C17C NM_001384.4 NP_001375.2 Q9BQC3 DPH2_HUMAN DPH2 homolog (S. cerevisiae) 78 peptidyl-diphthamide biosynthetic process from peptidyl-histidine cytoplasm autonomic_ganglia(1)|kidney(2)|large_intestine(2)|lung(10)|ovary(1)|prostate(2)|skin(1) 19 Acute lymphoblastic leukemia(166;0.155) Myeloproliferative disorder(586;0.0511) GTCAAAGATGTTCATTCTGGG 0.552000 89 217 0 0 0.000147903 0 0 OR10H1 26539 broad.mit.edu 37 19 15918635 15918635 + Silent SNP G G A TCGA-D3-A2JL-06A-11D-A196-08 TCGA-D3-A2JL-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 06d6341f-cb6d-4a7e-9213-c7bb394aca56 bf91785e-7b33-4bd0-8ff5-c20c20b4e985 g.chr19:15918635G>A ENST00000334920.2 - 1 301 c.213C>T c.(211-213)atC>atT p.I71I NM_013940.2 NP_039228.1 Q9Y4A9 O10H1_HUMAN olfactory receptor, family 10, subfamily H, member 1 71 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity cervix(1)|endometrium(3)|kidney(4)|large_intestine(6)|lung(8)|ovary(4)|skin(2)|urinary_tract(1) 29 CGGTGTAGAGGATCTCGGAGA 0.642000 17 10 0 0 7.07596e-05 0 0 TOM1L2 146691 broad.mit.edu 37 17 17797059 17797059 + Silent SNP G G A TCGA-D3-A2JL-06A-11D-A196-08 TCGA-D3-A2JL-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 06d6341f-cb6d-4a7e-9213-c7bb394aca56 bf91785e-7b33-4bd0-8ff5-c20c20b4e985 g.chr17:17797059G>A ENST00000379504.3 - 4 365 c.282C>T c.(280-282)ttC>ttT p.F94F TOM1L2_ENST00000318094.10_Silent_p.F94F|TOM1L2_ENST00000540946.1_Silent_p.F94F|TOM1L2_ENST00000542206.1_Intron|TOM1L2_ENST00000395739.4_Silent_p.F94F|TOM1L2_ENST00000535933.1_Silent_p.F94F|TOM1L2_ENST00000581396.1_Intron NM_001082968.1 NP_001076437.1 Q6ZVM7 TM1L2_HUMAN target of myb1-like 2 (chicken) 94 VHS. intracellular protein transport intracellular endometrium(2)|kidney(2)|large_intestine(1)|lung(3)|prostate(2) 10 all_neural(463;0.228) CACTGTCGATGAAATCTCGGT 0.517000 12 65 0 0 0.000151284 0 0 SPEG 10290 broad.mit.edu 37 2 220354160 220354160 + Missense_Mutation SNP T T G TCGA-D3-A2JL-06A-11D-A196-08 TCGA-D3-A2JL-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 06d6341f-cb6d-4a7e-9213-c7bb394aca56 bf91785e-7b33-4bd0-8ff5-c20c20b4e985 g.chr2:220354160T>G ENST00000312358.7 + 36 8552 c.8420T>G c.(8419-8421)cTa>cGa p.L2807R AC053503.11_ENST00000429882.1_RNA|SPEG_ENST00000485813.1_3'UTR NM_005876.4 NP_005867.3 Q15772 SPEG_HUMAN SPEG complex locus 2807 Pro-rich. muscle organ development|negative regulation of cell proliferation nucleus ATP binding|protein serine/threonine kinase activity breast(2)|central_nervous_system(3)|endometrium(10)|kidney(2)|large_intestine(9)|lung(42)|ovary(5)|pancreas(1)|prostate(8)|skin(1)|stomach(9)|upper_aerodigestive_tract(4)|urinary_tract(4) 100 Renal(207;0.0183) Epithelial(149;4.5e-10)|all cancers(144;7.93e-08)|Lung(261;0.00639)|LUSC - Lung squamous cell carcinoma(224;0.00829)|READ - Rectum adenocarcinoma(5;0.163) GCCCCACCCCTAGCTCCTGCT 0.662000 4 33 0 0 1.23904e-05 0 0 PLEKHA4 57664 broad.mit.edu 37 19 49344564 49344564 + Missense_Mutation SNP G G A TCGA-D3-A2JL-06A-11D-A196-08 TCGA-D3-A2JL-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 06d6341f-cb6d-4a7e-9213-c7bb394aca56 bf91785e-7b33-4bd0-8ff5-c20c20b4e985 g.chr19:49344564G>A ENST00000263265.6 - 17 2302 c.1747C>T c.(1747-1749)Ccg>Tcg p.P583S PLEKHA4_ENST00000355496.5_Intron NM_020904.2 NP_065955.2 Q9H4M7 PKHA4_HUMAN pleckstrin homology domain containing, family A (phosphoinositide binding specific) member 4 583 cytoplasm|membrane 1-phosphatidylinositol binding NS(1)|breast(5)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(5)|lung(5)|ovary(1)|prostate(3)|skin(2)|urinary_tract(2) 30 all_lung(116;4.89e-05)|Lung NSC(112;8.3e-05)|all_epithelial(76;0.000108)|all_neural(266;0.0506)|Ovarian(192;0.113) OV - Ovarian serous cystadenocarcinoma(262;0.00027)|all cancers(93;0.00084)|GBM - Glioblastoma multiforme(486;0.0244)|Epithelial(262;0.0364) CGGGCCACCGGGGCCTAGGGA 0.647000 9 26 0 0 3.86212e-05 0 0 COL6A3 1293 broad.mit.edu 37 2 238303547 238303547 + Missense_Mutation SNP G G C TCGA-D3-A2JL-06A-11D-A196-08 TCGA-D3-A2JL-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 06d6341f-cb6d-4a7e-9213-c7bb394aca56 bf91785e-7b33-4bd0-8ff5-c20c20b4e985 g.chr2:238303547G>C ENST00000295550.4 - 3 844 c.392C>G c.(391-393)aCc>aGc p.T131S COL6A3_ENST00000347401.3_Missense_Mutation_p.T131S|COL6A3_ENST00000392004.3_Intron|COL6A3_ENST00000353578.4_Intron|COL6A3_ENST00000409809.1_Intron|COL6A3_ENST00000472056.1_Intron|COL6A3_ENST00000346358.4_Missense_Mutation_p.T131S|COL6A3_ENST00000392003.2_Intron NM_004369.3 NP_004360.2 P12111 CO6A3_HUMAN collagen, type VI, alpha 3 131 Nonhelical region.|VWFA 1. 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) AGCAGCCTTGGTGAGGTGGCT 0.483000 7 66 0 0 8.12818e-05 0 0 PITPNM3 83394 broad.mit.edu 37 17 6387073 6387073 + Splice_Site SNP C C T TCGA-D3-A2JL-06A-11D-A196-08 TCGA-D3-A2JL-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 06d6341f-cb6d-4a7e-9213-c7bb394aca56 bf91785e-7b33-4bd0-8ff5-c20c20b4e985 g.chr17:6387073C>T ENST00000262483.8 - 6 439 c.e6-1 ACKR6_ENST00000421306.3_Splice_Site NM_031220.3 NP_112497.2 GGCAGCCTTCCTGAGAGCCAA 0.627000 19 14 0 0 9.7654e-05 0 0 RRN3P2 653390 broad.mit.edu 37 16 29107453 29107453 + RNA SNP G G A TCGA-D3-A2JL-06A-11D-A196-08 TCGA-D3-A2JL-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 06d6341f-cb6d-4a7e-9213-c7bb394aca56 bf91785e-7b33-4bd0-8ff5-c20c20b4e985 g.chr16:29107453G>A ENST00000564580.1 + 0 845 TTTTTATAGGGATTCGCAGAG 0.393000 8 41 0 0 2.17888e-05 0 0 SLC12A7 10723 broad.mit.edu 37 5 1081726 1081726 + Silent SNP G G A rs113279957 TCGA-D3-A2JL-06A-11D-A196-08 TCGA-D3-A2JL-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 06d6341f-cb6d-4a7e-9213-c7bb394aca56 bf91785e-7b33-4bd0-8ff5-c20c20b4e985 g.chr5:1081726G>A ENST00000264930.5 - 9 1306 c.1263C>T c.(1261-1263)acC>acT p.T421T NM_006598.2 NP_006589.2 Q9Y666 S12A7_HUMAN solute carrier family 12 (potassium/chloride transporter), member 7 421 potassium ion transport|sodium ion transport integral to plasma membrane potassium:chloride symporter activity breast(1)|endometrium(3)|kidney(2)|large_intestine(3)|lung(14)|ovary(2)|prostate(1)|skin(4)|urinary_tract(2) 32 Lung NSC(6;2.47e-13)|all_lung(6;1.67e-12)|all_epithelial(6;5.44e-09) Epithelial(17;0.000497)|OV - Ovarian serous cystadenocarcinoma(19;0.00239)|all cancers(22;0.00241)|Lung(60;0.165) Potassium Chloride(DB00761) CAACCAGCAGGGTGAAGGAGG 0.607000 11 25 0 0 0.00010058 0 0 WFDC2 10406 broad.mit.edu 37 20 44108723 44108723 + Missense_Mutation SNP C C T rs147125152 TCGA-D3-A2JL-06A-11D-A196-08 TCGA-D3-A2JL-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 06d6341f-cb6d-4a7e-9213-c7bb394aca56 bf91785e-7b33-4bd0-8ff5-c20c20b4e985 g.chr20:44108723C>T ENST00000342873.3 + 1 645 c.212C>T c.(211-213)cCc>cTc p.P71L WFDC2_ENST00000339946.3_Missense_Mutation_p.P74L|WFDC2_ENST00000372676.3_Missense_Mutation_p.P122L|WFDC2_ENST00000488143.1_3'UTR Q14508 WFDC2_HUMAN WAP four-disulfide core domain 2 122 WAP 1. SL -> LLC (in Ref. 1; CAA44869 and 2; AAL37485). proteolysis|spermatogenesis extracellular space serine-type endopeptidase inhibitor activity lung(1) 1 Myeloproliferative disorder(115;0.0122) TGTGTCACTCCCAATTTCTGA 0.567000 46 66 0 0 0.000147903 0 0 DKK2 27123 broad.mit.edu 37 4 107845320 107845320 + Missense_Mutation SNP C C T TCGA-D3-A2JL-06A-11D-A196-08 TCGA-D3-A2JL-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 06d6341f-cb6d-4a7e-9213-c7bb394aca56 bf91785e-7b33-4bd0-8ff5-c20c20b4e985 g.chr4:107845320C>T ENST00000285311.3 - 4 1276 c.571G>A c.(571-573)Gaa>Aaa p.E191K DKK2_ENST00000513208.1_Missense_Mutation_p.E91K|DKK2_ENST00000510463.1_Missense_Mutation_p.E145K NM_014421.2 NP_055236.1 Q9UBU2 DKK2_HUMAN dickkopf WNT signaling pathway inhibitor 2 191 DKK-type Cys-2. multicellular organismal development|negative regulation of canonical Wnt receptor signaling pathway|positive regulation of canonical Wnt receptor signaling pathway|Wnt receptor signaling pathway extracellular space autonomic_ganglia(1)|breast(1)|endometrium(2)|large_intestine(7)|lung(10)|ovary(3)|pancreas(1)|prostate(3)|skin(2)|stomach(1)|upper_aerodigestive_tract(1) 32 Hepatocellular(203;0.217) OV - Ovarian serous cystadenocarcinoma(123;6.34e-06) CAAAACCCTTCAATGCAGTCT 0.458000 10 24 0 0 2.17888e-05 0 0 UBE2J2 118424 broad.mit.edu 37 1 1203265 1203265 + Silent SNP G G A TCGA-D3-A2JL-06A-11D-A196-08 TCGA-D3-A2JL-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 06d6341f-cb6d-4a7e-9213-c7bb394aca56 bf91785e-7b33-4bd0-8ff5-c20c20b4e985 g.chr1:1203265G>A ENST00000349431.6 - 2 327 c.108C>T c.(106-108)ccC>ccT p.P36P UBE2J2_ENST00000400929.2_Intron|UBE2J2_ENST00000400930.4_Silent_p.P36P|UBE2J2_ENST00000347370.2_5'UTR|UBE2J2_ENST00000491779.1_Intron|UBE2J2_ENST00000360466.2_Silent_p.P36P|UBE2J2_ENST00000348298.7_5'UTR NM_058167.2 NP_477515.2 Q8N2K1 UB2J2_HUMAN ubiquitin-conjugating enzyme E2, J2 36 response to unfolded protein endoplasmic reticulum membrane|integral to membrane ATP binding|ubiquitin-protein ligase activity cervix(2)|kidney(1)|large_intestine(1)|lung(5)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(2) 13 all_cancers(77;0.00164)|all_epithelial(69;0.000959)|all_lung(157;0.00963)|Lung NSC(156;0.0232)|Ovarian(185;0.0634) all_epithelial(116;8.75e-19)|all_lung(118;2.3e-08)|Lung NSC(185;2.38e-06)|Renal(390;0.00183)|Breast(487;0.00354)|Hepatocellular(190;0.00826)|Myeloproliferative disorder(586;0.0122)|Ovarian(437;0.0308)|Lung SC(97;0.128) Epithelial(90;6.66e-35)|OV - Ovarian serous cystadenocarcinoma(86;3.53e-21)|Colorectal(212;0.00019)|COAD - Colon adenocarcinoma(227;0.000215)|Kidney(185;0.00255)|BRCA - Breast invasive adenocarcinoma(365;0.00266)|STAD - Stomach adenocarcinoma(132;0.00645)|KIRC - Kidney renal clear cell carcinoma(229;0.0371)|Lung(427;0.205) TCGAAGGGAGGGGCTCGGCAC 0.632000 82 170 0 0 0.000147903 0 0 DIDO1 11083 broad.mit.edu 37 20 61525513 61525513 + Missense_Mutation SNP G G A TCGA-D3-A2JL-06A-11D-A196-08 TCGA-D3-A2JL-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 06d6341f-cb6d-4a7e-9213-c7bb394aca56 bf91785e-7b33-4bd0-8ff5-c20c20b4e985 g.chr20:61525513G>A ENST00000266070.4 - 12 2931 c.2606C>T c.(2605-2607)cCg>cTg p.P869L DIDO1_ENST00000395343.1_Missense_Mutation_p.P869L|DIDO1_ENST00000395340.1_Missense_Mutation_p.P869L|DIDO1_ENST00000395335.2_Missense_Mutation_p.P869L NM_033081.2 NP_149072.2 Q9BTC0 DIDO1_HUMAN death inducer-obliterator 1 869 apoptosis|transcription, DNA-dependent cytoplasm|nucleus zinc ion binding NS(6)|breast(5)|central_nervous_system(1)|cervix(3)|endometrium(6)|kidney(1)|large_intestine(17)|lung(39)|ovary(8)|prostate(3)|skin(7)|stomach(2)|upper_aerodigestive_tract(1) 99 Breast(26;5.68e-08) TTGTTTTTTCGGAGCTGGCTC 0.502000 43 180 0 0 0.000147903 0 0 AGBL1 123624 broad.mit.edu 37 15 86940602 86940602 + Missense_Mutation SNP C C T TCGA-D3-A2JL-06A-11D-A196-08 TCGA-D3-A2JL-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 06d6341f-cb6d-4a7e-9213-c7bb394aca56 bf91785e-7b33-4bd0-8ff5-c20c20b4e985 g.chr15:86940602C>T ENST00000441037.2 + 17 2337 c.2242C>T c.(2242-2244)Cgt>Tgt p.R748C AGBL1_ENST00000421325.2_Missense_Mutation_p.R748C|AGBL1_ENST00000389298.3_Missense_Mutation_p.R479C NM_152336.2 NP_689549.2 Q96MI9 CBPC4_HUMAN ATP/GTP binding protein-like 1 748 C-terminal protein deglutamylation|protein side chain deglutamylation|proteolysis cytosol metallocarboxypeptidase activity|tubulin binding|zinc ion binding NS(3)|breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(8)|liver(2)|lung(28)|ovary(2)|prostate(4)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 62 TGCAGGACATCGTCCATATCA 0.398000 5 5 0 0 8.12818e-05 0 0 HSPA1L 3305 broad.mit.edu 37 6 31779099 31779099 + Silent SNP C C T TCGA-D3-A2JL-06A-11D-A196-08 TCGA-D3-A2JL-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 06d6341f-cb6d-4a7e-9213-c7bb394aca56 bf91785e-7b33-4bd0-8ff5-c20c20b4e985 g.chr6:31779099C>T ENST00000375654.4 - 2 840 c.651G>A c.(649-651)ggG>ggA p.G217G HSPA1L_ENST00000417199.3_Silent_p.G217G NM_005527.3 NP_005518.3 P34931 HS71L_HUMAN heat shock 70kDa protein 1-like 217 response to unfolded protein ATP binding breast(1)|endometrium(3)|kidney(2)|large_intestine(10)|lung(10)|ovary(3)|pleura(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1) 34 CCTCAAAAATCCCATCATCTA 0.483000 93 500 0 0 0.000147903 0 0 RBM47 54502 broad.mit.edu 37 4 40440442 40440442 + Missense_Mutation SNP C C T TCGA-D3-A2JL-06A-11D-A196-08 TCGA-D3-A2JL-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 06d6341f-cb6d-4a7e-9213-c7bb394aca56 bf91785e-7b33-4bd0-8ff5-c20c20b4e985 g.chr4:40440442C>T ENST00000319592.4 - 4 1178 c.469G>A c.(469-471)Ggg>Agg p.G157R RBM47_ENST00000514014.1_Missense_Mutation_p.G119R|RBM47_ENST00000381795.6_Missense_Mutation_p.G157R|RBM47_ENST00000515809.1_Intron|RBM47_ENST00000381793.2_Missense_Mutation_p.G157R|RBM47_ENST00000295971.7_Missense_Mutation_p.G157R A0AV96 RBM47_HUMAN RNA binding motif protein 47 157 RRM 2. nucleus nucleotide binding|RNA binding breast(5)|endometrium(1)|kidney(3)|large_intestine(2)|lung(9)|ovary(1)|prostate(3)|skin(4)|upper_aerodigestive_tract(1) 29 TTGGGGATCCCGCCGATGAAG 0.647000 23 46 0 0 7.16444e-05 0 0 SORCS3 22986 broad.mit.edu 37 10 106924130 106924130 + Nonsense_Mutation SNP G G A TCGA-D3-A2JL-06A-11D-A196-08 TCGA-D3-A2JL-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 06d6341f-cb6d-4a7e-9213-c7bb394aca56 bf91785e-7b33-4bd0-8ff5-c20c20b4e985 g.chr10:106924130G>A ENST00000369701.3 + 12 2029 c.1802G>A c.(1801-1803)tGg>tAg p.W601* NM_014978.1 NP_055793.1 Q9UPU3 SORC3_HUMAN sortilin-related VPS10 domain containing receptor 3 601 integral to membrane neuropeptide receptor activity autonomic_ganglia(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(19)|lung(63)|ovary(6)|pancreas(1)|prostate(6)|skin(8)|stomach(3)|upper_aerodigestive_tract(3)|urinary_tract(2) 131 Colorectal(252;0.134)|Breast(234;0.142)|Lung NSC(174;0.191) Epithelial(162;1.58e-07)|all cancers(201;1.02e-05)|BRCA - Breast invasive adenocarcinoma(275;0.0628) GGCAACACATGGAGACAGGTA 0.443000 5 7 0 0 3.59834e-05 0 0 WDR65 149465 broad.mit.edu 37 1 43664180 43664180 + Missense_Mutation SNP G G A TCGA-D3-A2JL-06A-11D-A196-08 TCGA-D3-A2JL-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 06d6341f-cb6d-4a7e-9213-c7bb394aca56 bf91785e-7b33-4bd0-8ff5-c20c20b4e985 g.chr1:43664180G>A ENST00000372492.4 + 8 1615 c.1291G>A c.(1291-1293)Gaa>Aaa p.E431K WDR65_ENST00000528956.1_Missense_Mutation_p.E431K NM_001195831.2 NP_001182760.2 Q96MR6 WDR65_HUMAN WD repeat domain 65 431 NS(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(4)|lung(7)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1) 23 Acute lymphoblastic leukemia(166;0.155) Myeloproliferative disorder(586;0.0505) GGAATACCAAGAAGAGGCATA 0.393000 11 38 0 0 0.000151284 0 0 ACE 1636 broad.mit.edu 37 17 61559936 61559936 + Missense_Mutation SNP C C T TCGA-D3-A2JL-06A-11D-A196-08 TCGA-D3-A2JL-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 06d6341f-cb6d-4a7e-9213-c7bb394aca56 bf91785e-7b33-4bd0-8ff5-c20c20b4e985 g.chr17:61559936C>T ENST00000290866.4 + 8 1252 c.1228C>T c.(1228-1230)Cgg>Tgg p.R410W ACE_ENST00000584529.1_3'UTR|ACE_ENST00000538928.1_Missense_Mutation_p.R410W|ACE_ENST00000428043.1_Missense_Mutation_p.R410W NM_000789.3 NP_000780.1 P12821 ACE_HUMAN angiotensin I converting enzyme 410 Peptidase M2 1. arachidonic acid secretion|hormone catabolic process|kidney development|peptide catabolic process|regulation of smooth muscle cell migration endosome|external side of plasma membrane|extracellular space|integral to membrane|membrane fraction|plasma membrane actin binding|bradykinin receptor binding|carboxypeptidase activity|chloride ion binding|drug binding|metallopeptidase activity|peptidyl-dipeptidase activity|zinc ion binding autonomic_ganglia(1)|breast(2)|endometrium(5)|kidney(3)|large_intestine(3)|lung(22)|ovary(6)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2) 51 Benazepril(DB00542)|Captopril(DB01197)|Deserpidine(DB01089)|Enalapril(DB00584)|Fosinopril(DB00492)|Lisinopril(DB00722)|Moexipril(DB00691)|Perindopril(DB00790)|Quinapril(DB00881)|Ramipril(DB00178)|Rescinnamine(DB01180)|Spirapril(DB01348)|Trandolapril(DB00519) CTCCCTGCGTCGGGGGGCCAA 0.607000 13 144 0 0 0.000422831 0 0 PTPRH 5794 broad.mit.edu 37 19 55707899 55707899 + Missense_Mutation SNP C C T rs145253735 by1000genomes TCGA-D3-A2JL-06A-11D-A196-08 TCGA-D3-A2JL-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 06d6341f-cb6d-4a7e-9213-c7bb394aca56 bf91785e-7b33-4bd0-8ff5-c20c20b4e985 g.chr19:55707899C>T ENST00000376350.3 - 10 2270 c.2248G>A c.(2248-2250)Gag>Aag p.E750K PTPRH_ENST00000588559.1_5'UTR|PTPRH_ENST00000263434.5_Missense_Mutation_p.E572K NM_002842.3 NP_002833.3 Q9HD43 PTPRH_HUMAN protein tyrosine phosphatase, receptor type, H 750 apoptosis cytoplasm|integral to plasma membrane protein binding|transmembrane receptor protein tyrosine phosphatase activity breast(2)|central_nervous_system(3)|endometrium(4)|kidney(3)|large_intestine(8)|lung(27)|ovary(2)|prostate(5)|skin(10)|upper_aerodigestive_tract(1)|urinary_tract(2) 67 Renal(1328;0.245) BRCA - Breast invasive adenocarcinoma(297;0.209) GBM - Glioblastoma multiforme(193;0.0479) CCTGCACTCTCGGTGTGGCAG 0.597000 17 44 0 0 0.000229342 0 0 SPATA8 145946 broad.mit.edu 37 15 97326971 97326971 + Missense_Mutation SNP C C A TCGA-D3-A2JL-06A-11D-A196-08 TCGA-D3-A2JL-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 06d6341f-cb6d-4a7e-9213-c7bb394aca56 bf91785e-7b33-4bd0-8ff5-c20c20b4e985 g.chr15:97326971C>A ENST00000328504.3 + 1 353 c.86C>A c.(85-87)cCt>cAt p.P29H SPATA8_ENST00000558553.1_Intron NM_173499.3 NP_775770.1 Q6RVD6 SPAT8_HUMAN spermatogenesis associated 8 29 large_intestine(4)|lung(8)|ovary(1)|skin(3) 16 Melanoma(26;0.0142)|Lung NSC(78;0.041)|all_lung(78;0.0468) OV - Ovarian serous cystadenocarcinoma(32;0.0718) CTGCCTTGTCCTAGGTATCTG 0.522000 24 33 8.24728e-16 2.13807e-14 9.22233e-05 1 0 SCN4A 6329 broad.mit.edu 37 17 62020202 62020202 + Silent SNP G G A TCGA-D3-A2JL-06A-11D-A196-08 TCGA-D3-A2JL-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 06d6341f-cb6d-4a7e-9213-c7bb394aca56 bf91785e-7b33-4bd0-8ff5-c20c20b4e985 g.chr17:62020202G>A ENST00000578147.1 - 23 4348 c.4272C>T c.(4270-4272)gtC>gtT p.V1424V SCN4A_ENST00000435607.1_Silent_p.V1424V P35499 SCN4A_HUMAN sodium channel, voltage-gated, type IV, alpha subunit 1424 muscle contraction voltage-gated sodium channel complex voltage-gated sodium channel activity p.V1424V(1) breast(4)|central_nervous_system(3)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(23)|lung(40)|ovary(3)|pancreas(1)|prostate(6)|skin(4)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 101 Lamotrigine(DB00555) TGGACAGGATGACGACCACGA 0.602000 8 38 0 0 0.000274275 0 0 NRAS 4893 broad.mit.edu 37 1 115258748 115258748 + Missense_Mutation SNP C C G rs121913250 TCGA-D3-A2JL-06A-11D-A196-08 TCGA-D3-A2JL-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 06d6341f-cb6d-4a7e-9213-c7bb394aca56 bf91785e-7b33-4bd0-8ff5-c20c20b4e985 g.chr1:115258748C>G ENST00000369535.4 - 2 287 c.34G>C c.(34-36)Ggt>Cgt p.G12R NM_002524.4 NP_002515.1 P01111 RASN_HUMAN neuroblastoma RAS viral (v-ras) oncogene homolog 12 G -> C (in leukemia). activation of MAPKK activity|axon guidance|blood coagulation|epidermal growth factor receptor signaling pathway|insulin receptor signaling pathway|leukocyte migration|nerve growth factor receptor signaling pathway|Ras protein signal transduction Golgi membrane|plasma membrane GTP binding|GTPase activity p.G12S(133)|p.G12C(81)|p.G12R(18)|p.G12N(2)|p.G12P(1)|p.G12Y(1) NS(134)|adrenal_gland(9)|autonomic_ganglia(9)|biliary_tract(6)|bone(1)|breast(9)|central_nervous_system(10)|cervix(2)|endometrium(11)|eye(3)|haematopoietic_and_lymphoid_tissue(1115)|kidney(3)|large_intestine(105)|liver(10)|lung(42)|meninges(2)|ovary(7)|pancreas(5)|prostate(8)|skin(1144)|soft_tissue(37)|stomach(5)|testis(8)|thyroid(359)|upper_aerodigestive_tract(28)|urinary_tract(13) 3085 all_epithelial(7;5.11e-05)|all_lung(7;0.000179)|Lung NSC(6;0.00195)|Lung SC(450;0.211) all_cancers(81;4.64e-07)|all_epithelial(167;4.2e-07)|all_lung(203;9.97e-06)|Lung NSC(69;1.74e-05) Lung(183;0.0234)|Colorectal(144;0.0686)|COAD - Colon adenocarcinoma(174;0.111)|all cancers(265;0.112)|Epithelial(280;0.124)|LUSC - Lung squamous cell carcinoma(189;0.133) CCAACACCACCTGCTCCAACC 0.493000 G12C(KHM1B_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12C(MOLT4_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12C(P31FUJ_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12S(PF382_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE) 50 Mis """melanoma, MM, AML, thyroid""" Noonan syndrome TSP Lung(23;0.16)|Multiple Myeloma(1;<1E-6) 32 103 0 0 0.000132358 0 0 ARHGAP6 395 broad.mit.edu 37 X 11682527 11682527 + Missense_Mutation SNP G G A TCGA-D3-A2JL-06A-11D-A196-08 TCGA-D3-A2JL-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 06d6341f-cb6d-4a7e-9213-c7bb394aca56 bf91785e-7b33-4bd0-8ff5-c20c20b4e985 g.chrX:11682527G>A ENST00000337414.4 - 1 1294 c.422C>T c.(421-423)tCt>tTt p.S141F ARHGAP6_ENST00000380732.3_Missense_Mutation_p.S141F|ARHGAP6_ENST00000380718.1_Missense_Mutation_p.S141F NM_013427.2 NP_038286.2 O43182 RHG06_HUMAN Rho GTPase activating protein 6 141 actin filament polymerization|activation of phospholipase C activity|negative regulation of focal adhesion assembly|negative regulation of stress fiber assembly|Rho protein signal transduction actin filament|cytosol phospholipase activator activity|phospholipase binding|Rho GTPase activator activity|SH3 domain binding|SH3/SH2 adaptor activity cervix(1)|endometrium(5)|kidney(1)|large_intestine(5)|lung(19)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2) 38 GGCCAGGACAGAAGGCAGGTC 0.627000 5 17 0 0 8.12818e-05 0 0 PSMD2 5708 broad.mit.edu 37 3 184024179 184024179 + Missense_Mutation SNP T T A TCGA-D3-A2JL-06A-11D-A196-08 TCGA-D3-A2JL-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 06d6341f-cb6d-4a7e-9213-c7bb394aca56 bf91785e-7b33-4bd0-8ff5-c20c20b4e985 g.chr3:184024179T>A ENST00000310118.4 + 15 2404 c.1846T>A c.(1846-1848)Tgt>Agt p.C616S EIF2B5_ENST00000444495.1_Intron|PSMD2_ENST00000435761.1_Missense_Mutation_p.C457S|PSMD2_ENST00000439383.1_Missense_Mutation_p.C486S NM_002808.3 NP_002799.3 Q13200 PSMD2_HUMAN proteasome (prosome, macropain) 26S subunit, non-ATPase, 2 616 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|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|regulation of protein catabolic process|S phase of mitotic cell cycle|viral reproduction proteasome regulatory particle enzyme regulator activity|protein binding breast(1)|central_nervous_system(1)|cervix(1)|kidney(1)|large_intestine(5)|liver(1)|lung(12)|prostate(3)|upper_aerodigestive_tract(2) 27 all_cancers(143;1.54e-10)|Ovarian(172;0.0339) Epithelial(37;1.53e-33)|OV - Ovarian serous cystadenocarcinoma(80;2.72e-22) Bortezomib(DB00188) GCTCCACATTTGTAGCGAACA 0.488000 69 141 0 0 0.000147903 0 0 BCAM 4059 broad.mit.edu 37 19 45317959 45317959 + Silent SNP G G A TCGA-D3-A2JL-06A-11D-A196-08 TCGA-D3-A2JL-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 06d6341f-cb6d-4a7e-9213-c7bb394aca56 bf91785e-7b33-4bd0-8ff5-c20c20b4e985 g.chr19:45317959G>A ENST00000391955.1 + 8 1064 c.1020G>A c.(1018-1020)gaG>gaA p.E340E BCAM_ENST00000270233.6_Silent_p.E340E P50895 BCAM_HUMAN basal cell adhesion molecule (Lutheran blood group) 340 Ig-like C2-type 1. cell-matrix adhesion integral to plasma membrane laminin binding|laminin receptor activity central_nervous_system(1)|kidney(3)|large_intestine(4)|lung(9)|prostate(2)|skin(2)|upper_aerodigestive_tract(1) 22 Lung NSC(12;0.000789)|all_lung(12;0.00218) Ovarian(192;0.0728)|all_neural(266;0.112) GCAGAGTGGAGGATTACGACG 0.647000 142 294 0 0 0.000147903 0 0 BAHCC1 57597 broad.mit.edu 37 17 79428154 79428154 + Silent SNP C C T TCGA-D3-A2JL-06A-11D-A196-08 TCGA-D3-A2JL-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 06d6341f-cb6d-4a7e-9213-c7bb394aca56 bf91785e-7b33-4bd0-8ff5-c20c20b4e985 g.chr17:79428154C>T ENST00000307745.7 + 30 6465 c.6465C>T c.(6463-6465)gcC>gcT p.A2155A RP11-1055B8.8_ENST00000572590.1_RNA GCTTCCGCGCCGACTCCTTCA 0.692000 4 16 0 0 1.23904e-05 0 0 SLC17A3 10786 broad.mit.edu 37 6 25862090 25862090 + Silent SNP G G A TCGA-D3-A2JL-06A-11D-A196-08 TCGA-D3-A2JL-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 06d6341f-cb6d-4a7e-9213-c7bb394aca56 bf91785e-7b33-4bd0-8ff5-c20c20b4e985 g.chr6:25862090G>A ENST00000397060.4 - 4 580 c.471C>T c.(469-471)atC>atT p.I157I SLC17A3_ENST00000360657.3_Intron|SLC17A3_ENST00000361703.6_Intron NM_001098486.1 NP_001091956.1 O00476 NPT4_HUMAN solute carrier family 17 (organic anion transporter), member 3 308 glucose-6-phosphate transport|urate metabolic process apical plasma membrane|brush border membrane|endoplasmic reticulum membrane|integral to plasma membrane|perinuclear region of cytoplasm drug transmembrane transporter activity|efflux transmembrane transporter activity|organic anion transmembrane transporter activity|sodium:phosphate symporter activity|toxin transporter activity|urate transmembrane transporter activity|voltage-gated anion channel activity breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(10)|prostate(1) 20 TGGCCAGAGGGATGCATAGAG 0.443000 8 9 0 0 0.000274275 0 0 SLC35G3 146861 broad.mit.edu 37 17 33520392 33520392 + Missense_Mutation SNP G G C TCGA-D3-A2JL-06A-11D-A196-08 TCGA-D3-A2JL-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 06d6341f-cb6d-4a7e-9213-c7bb394aca56 bf91785e-7b33-4bd0-8ff5-c20c20b4e985 g.chr17:33520392G>C ENST00000297307.5 - 1 1020 c.935C>G c.(934-936)gCg>gGg p.A312G NM_152462.2 NP_689675.1 Q8N808 AMAC1_HUMAN solute carrier family 35, member G3 312 DUF6 2. integral to membrane p.A312G(4) AACCCCTGCCGCCACGATGTC 0.567000 5 192 0 0 8.12818e-05 0 0 FAM179A 165186 broad.mit.edu 37 2 29259496 29259496 + Silent SNP C C T TCGA-D3-A2JL-06A-11D-A196-08 TCGA-D3-A2JL-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 06d6341f-cb6d-4a7e-9213-c7bb394aca56 bf91785e-7b33-4bd0-8ff5-c20c20b4e985 g.chr2:29259496C>T ENST00000379558.4 + 18 2859 c.2508C>T c.(2506-2508)ctC>ctT p.L836L FAM179A_ENST00000403861.2_Silent_p.L781L|FAM179A_ENST00000465300.1_3'UTR NM_199280.2 NP_954974.2 Q6ZUX3 F179A_HUMAN family with sequence similarity 179, member A 836 binding breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(5)|lung(9)|ovary(3)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1) 26 TGATCCCCCTCCTCAGAGAGA 0.517000 17 49 0 0 5.01169e-05 0 0 PLIN5 440503 broad.mit.edu 37 19 4523746 4523746 + Missense_Mutation SNP C C G TCGA-D3-A2JL-06A-11D-A196-08 TCGA-D3-A2JL-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 06d6341f-cb6d-4a7e-9213-c7bb394aca56 bf91785e-7b33-4bd0-8ff5-c20c20b4e985 g.chr19:4523746C>G ENST00000381848.3 - 8 1266 c.1186G>C c.(1186-1188)Gtg>Ctg p.V396L NM_001013706.2 NP_001013728.2 Q00G26 PLIN5_HUMAN perilipin 5 396 lipid particle endometrium(4)|lung(3)|skin(2)|upper_aerodigestive_tract(1) 10 ACCTCGTCCACCAGGTCCGCC 0.731000 18 45 0 0 0.000175454 0 0 TMEM251 26175 broad.mit.edu 37 14 93652793 93652793 + Missense_Mutation SNP C C T TCGA-D3-A2JL-06A-11D-A196-08 TCGA-D3-A2JL-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 06d6341f-cb6d-4a7e-9213-c7bb394aca56 bf91785e-7b33-4bd0-8ff5-c20c20b4e985 g.chr14:93652793C>T ENST00000415050.2 + 2 662 c.287C>T c.(286-288)tCc>tTc p.S96F TMEM251_ENST00000283534.4_Missense_Mutation_p.S58F|RP11-371E8.4_ENST00000557048.1_Intron|RP11-371E8.4_ENST00000557574.1_Missense_Mutation_p.S58F NM_001098621.1 NP_001092091.1 transmembrane protein 251 TGGACACACTCCTTGAAAGCT 0.423000 22 64 0 0 0.000295444 0 0 PCDH10 57575 broad.mit.edu 37 4 134072858 134072858 + Silent SNP G G A TCGA-D3-A2JL-06A-11D-A196-08 TCGA-D3-A2JL-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 06d6341f-cb6d-4a7e-9213-c7bb394aca56 bf91785e-7b33-4bd0-8ff5-c20c20b4e985 g.chr4:134072858G>A ENST00000264360.4 + 1 2389 c.1563G>A c.(1561-1563)gaG>gaA p.E521E NM_032961.1 NP_116586.1 Q9P2E7 PCD10_HUMAN protocadherin 10 521 Cadherin 5. homophilic cell adhesion integral to membrane|plasma membrane calcium ion binding NS(2)|breast(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(30)|liver(1)|lung(72)|ovary(2)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(6)|urinary_tract(2) 136 LUSC - Lung squamous cell carcinoma(193;0.227) TCAACTCTGAGAACGGCTACT 0.602000 35 86 0 0 0.000132358 0 0 ACTR2 10097 broad.mit.edu 37 2 65492226 65492226 + Missense_Mutation SNP C C T TCGA-D3-A2JL-06A-11D-A196-08 TCGA-D3-A2JL-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 06d6341f-cb6d-4a7e-9213-c7bb394aca56 bf91785e-7b33-4bd0-8ff5-c20c20b4e985 g.chr2:65492226C>T ENST00000260641.5 + 8 1088 c.931C>T c.(931-933)Cct>Tct p.P311S ACTR2_ENST00000542850.1_Missense_Mutation_p.P256S|ACTR2_ENST00000377982.4_Missense_Mutation_p.P316S NM_005722.3 NP_005713.1 P61160 ARP2_HUMAN ARP2 actin-related protein 2 homolog (yeast) 311 cellular component movement Arp2/3 protein complex|cell projection|cytoplasm actin binding|ATP binding NS(1)|breast(2)|endometrium(3)|kidney(1)|large_intestine(3)|lung(1)|prostate(1) 12 TACTATGTATCCTGGCCTGCC 0.383000 50 110 0 0 0.000147903 0 0 ART4 420 broad.mit.edu 37 12 14993586 14993586 + Missense_Mutation SNP C C T TCGA-D3-A2JL-06A-11D-A196-08 TCGA-D3-A2JL-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 06d6341f-cb6d-4a7e-9213-c7bb394aca56 bf91785e-7b33-4bd0-8ff5-c20c20b4e985 g.chr12:14993586C>T ENST00000228936.4 - 2 1027 c.646G>A c.(646-648)Gag>Aag p.E216K C12orf60_ENST00000527783.1_Intron NM_021071.2 NP_066549.2 Q93070 NAR4_HUMAN ADP-ribosyltransferase 4 216 arginine metabolic process|protein ADP-ribosylation anchored to membrane|plasma membrane NAD(P)+-protein-arginine ADP-ribosyltransferase activity large_intestine(5)|liver(1)|lung(3)|prostate(1)|skin(2)|stomach(3) 15 TCCTGTGCCTCTTCTTTCAGG 0.493000 4 18 0 0 0.00024832 0 0 GAS6 2621 broad.mit.edu 37 13 114524980 114524980 + Silent SNP G G T TCGA-D3-A2JL-06A-11D-A196-08 TCGA-D3-A2JL-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 06d6341f-cb6d-4a7e-9213-c7bb394aca56 bf91785e-7b33-4bd0-8ff5-c20c20b4e985 g.chr13:114524980G>T ENST00000357389.3 - 14 2114 c.1962C>A c.(1960-1962)ctC>ctA p.L654L GAS6_ENST00000355761.4_Silent_p.L557L|GAS6-AS1_ENST00000458001.1_RNA|GAS6_ENST00000480426.1_5'UTR|GAS6_ENST00000327773.6_Silent_p.L611L|GAS6_ENST00000450766.1_Silent_p.L338L|GAS6_ENST00000418959.3_Silent_p.L312L Q14393 GAS6_HUMAN growth arrest-specific 6 654 Laminin G-like 2. cell proliferation|leukocyte migration|peptidyl-glutamic acid carboxylation|platelet activation|platelet degranulation|positive regulation of ERK1 and ERK2 cascade|positive regulation of fibroblast proliferation|post-translational protein modification|proteolysis|regulation of growth endoplasmic reticulum lumen|extracellular space|Golgi lumen|platelet alpha granule lumen calcium ion binding|receptor agonist activity central_nervous_system(4)|ovary(1) 5 Lung NSC(43;0.00976)|all_neural(89;0.0337)|Hepatocellular(20;0.0877)|Medulloblastoma(90;0.163)|Lung SC(71;0.218) all_cancers(25;0.0176)|all_epithelial(44;0.0104)|all_lung(25;0.0249)|Lung NSC(25;0.0908)|Breast(118;0.188) GGTGCCTCTCGAGCACGGCCA 0.716000 4 4 0.00024832 0.0063151 0.00024832 1 0 IQCC 55721 broad.mit.edu 37 1 32673199 32673199 + Missense_Mutation SNP G G A TCGA-D3-A2JL-06A-11D-A196-08 TCGA-D3-A2JL-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 06d6341f-cb6d-4a7e-9213-c7bb394aca56 bf91785e-7b33-4bd0-8ff5-c20c20b4e985 g.chr1:32673199G>A ENST00000537469.1 + 5 1204 c.1157G>A c.(1156-1158)aGa>aAa p.R386K IQCC_ENST00000291358.6_Missense_Mutation_p.R306K NM_001160042.1 NP_001153514.1 Q4KMZ1 IQCC_HUMAN IQ motif containing C 306 endometrium(4)|large_intestine(1)|lung(3)|ovary(4)|skin(2)|urinary_tract(1) 15 Myeloproliferative disorder(586;0.0393)|all_neural(195;0.186) GACGATGGAAGACAGACCTTT 0.552000 7 52 0 0 8.12818e-05 0 0 OR1E1 8387 broad.mit.edu 37 17 3301419 3301419 + Missense_Mutation SNP C C T TCGA-D3-A2JL-06A-11D-A196-08 TCGA-D3-A2JL-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 06d6341f-cb6d-4a7e-9213-c7bb394aca56 bf91785e-7b33-4bd0-8ff5-c20c20b4e985 g.chr17:3301419C>T ENST00000322608.2 - 1 285 c.286G>A c.(286-288)Gac>Aac p.D96N NM_003553.2 NP_003544.2 P30953 OR1E1_HUMAN olfactory receptor, family 1, subfamily E, member 1 96 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity endometrium(3)|large_intestine(2)|lung(5) 10 GTCAGGCAGTCCGCATAGGGG 0.522000 16 26 0 0 5.01169e-05 0 0 ABCC9 10060 broad.mit.edu 37 12 22025665 22025665 + Splice_Site SNP C C T TCGA-D3-A2JL-06A-11D-A196-08 TCGA-D3-A2JL-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 06d6341f-cb6d-4a7e-9213-c7bb394aca56 bf91785e-7b33-4bd0-8ff5-c20c20b4e985 g.chr12:22025665C>T ENST00000261200.4 - 16 2092 c.e16-1 RP11-729I10.2_ENST00000539874.1_RNA|ABCC9_ENST00000345162.2_Splice_Site|ABCC9_ENST00000261201.4_Splice_Site NM_020297.2 NP_064693.2 O60706 ABCC9_HUMAN ATP-binding cassette, sub-family C (CFTR/MRP), member 9 defense response to virus|potassium ion import ATP-sensitive potassium channel complex ATP binding|ATPase activity, coupled to transmembrane movement of substances|potassium channel regulator activity|sulfonylurea receptor activity NS(2)|breast(5)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(15)|lung(56)|ovary(4)|pancreas(1)|prostate(4)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(5) 118 Adenosine triphosphate(DB00171)|Glibenclamide(DB01016) GTTAACTGACCTAGGAAAGCA 0.403000 45 103 0 0 0.000147903 0 0 DNM1P46 196968 broad.mit.edu 37 15 100332264 100332264 + RNA SNP C C T TCGA-D3-A2JL-06A-11D-A196-08 TCGA-D3-A2JL-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 06d6341f-cb6d-4a7e-9213-c7bb394aca56 bf91785e-7b33-4bd0-8ff5-c20c20b4e985 g.chr15:100332264C>T ENST00000341853.1 - 0 1927 NR_003260.1 GACTAGGGGCCAGTCTGTGAG 0.657000 11 50 0 0 6.40141e-05 0 0 ARMC4 55130 broad.mit.edu 37 10 28225687 28225687 + Nonsense_Mutation SNP C C T TCGA-D3-A2JL-06A-11D-A196-08 TCGA-D3-A2JL-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 06d6341f-cb6d-4a7e-9213-c7bb394aca56 bf91785e-7b33-4bd0-8ff5-c20c20b4e985 g.chr10:28225687C>T ENST00000305242.5 - 15 2312 c.2220G>A c.(2218-2220)tgG>tgA p.W740* ARMC4_ENST00000537576.1_Nonsense_Mutation_p.W432*|ARMC4_ENST00000545014.1_Nonsense_Mutation_p.W265* NM_018076.2 NP_060546.2 Q5T2S8 ARMC4_HUMAN armadillo repeat containing 4 740 binding p.W740*(1) NS(2)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(7)|kidney(6)|large_intestine(17)|liver(1)|lung(17)|ovary(5)|prostate(3)|skin(8)|stomach(2)|urinary_tract(3) 75 TGGAACATTTCCATATAGCCC 0.443000 8 45 0 0 3.86212e-05 0 0 OR51I2 390064 broad.mit.edu 37 11 5475540 5475540 + Silent SNP C C T TCGA-D3-A2JL-06A-11D-A196-08 TCGA-D3-A2JL-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 06d6341f-cb6d-4a7e-9213-c7bb394aca56 bf91785e-7b33-4bd0-8ff5-c20c20b4e985 g.chr11:5475540C>T ENST00000341449.2 + 1 903 c.822C>T c.(820-822)gtC>gtT p.V274V AC104389.28_ENST00000415970.1_RNA|HBG2_ENST00000380252.1_Intron|HBE1_ENST00000380237.1_Intron|HBG2_ENST00000380259.2_Intron NM_001004754.2 NP_001004754.1 Q9H344 O51I2_HUMAN olfactory receptor, family 51, subfamily I, member 2 274 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity endometrium(3)|kidney(1)|large_intestine(7)|lung(8)|ovary(2)|prostate(1)|skin(6)|upper_aerodigestive_tract(1) 29 Medulloblastoma(188;0.0075)|all_neural(188;0.0572)|Breast(177;0.0675) Epithelial(150;1.09e-10)|BRCA - Breast invasive adenocarcinoma(625;0.135) ACATACATGTCCTCATGTCAA 0.478000 23 96 0 0 9.22233e-05 0 0 ACVRL1 94 broad.mit.edu 37 12 52306947 52306947 + Silent SNP G G A TCGA-D3-A2JL-06A-11D-A196-08 TCGA-D3-A2JL-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 06d6341f-cb6d-4a7e-9213-c7bb394aca56 bf91785e-7b33-4bd0-8ff5-c20c20b4e985 g.chr12:52306947G>A ENST00000550683.1 + 2 269 c.168G>A c.(166-168)aaG>aaA p.K56K ACVRL1_ENST00000419526.2_Intron|ACVRL1_ENST00000388922.4_Silent_p.K42K NM_001077401.1 NP_001070869.1 P37023 ACVL1_HUMAN activin A receptor type II-like 1 42 blood vessel endothelial cell proliferation involved in sprouting angiogenesis|blood vessel maturation|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of endothelial cell migration|negative regulation of focal adhesion assembly|positive regulation of BMP signaling pathway|positive regulation of transcription, DNA-dependent|regulation of blood pressure|regulation of blood vessel endothelial cell migration|regulation of DNA replication|regulation of endothelial cell proliferation|transforming growth factor beta receptor signaling pathway|wound healing, spreading of epidermal cells cell surface|integral to plasma membrane activin binding|activin receptor activity, type I|ATP binding|metal ion binding|receptor signaling protein serine/threonine kinase activity|SMAD binding|transforming growth factor beta binding|transforming growth factor beta receptor activity breast(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(9)|prostate(1)|skin(1)|urinary_tract(1) 20 BRCA - Breast invasive adenocarcinoma(357;0.0991) Adenosine triphosphate(DB00171) CACATTGCAAGGGGCCTACCT 0.672000 9 21 0 0 2.17888e-05 0 0 ECE2 9718 broad.mit.edu 37 3 184009945 184009945 + Silent SNP C C T TCGA-D3-A2JL-06A-11D-A196-08 TCGA-D3-A2JL-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 06d6341f-cb6d-4a7e-9213-c7bb394aca56 bf91785e-7b33-4bd0-8ff5-c20c20b4e985 g.chr3:184009945C>T ENST00000402825.3 + 19 2571 c.2571C>T c.(2569-2571)tcC>tcT p.S857S ECE2_ENST00000404464.3_Silent_p.S739S|ECE2_ENST00000359140.4_Silent_p.S710S|EIF2B5_ENST00000444495.1_Intron|ECE2_ENST00000357474.5_Silent_p.S785S NM_014693.3 NP_055508.3 O60344 ECE2_HUMAN endothelin converting enzyme 2 857 Endothelin-converting enzyme 2 region. brain development|cardioblast differentiation|cell-cell signaling|peptide hormone processing cytoplasmic vesicle membrane|Golgi membrane|integral to membrane metal ion binding|metalloendopeptidase activity|methyltransferase activity breast(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(11)|lung(13)|ovary(3)|prostate(1)|skin(4)|upper_aerodigestive_tract(4)|urinary_tract(4) 49 all_cancers(143;1.39e-10)|Ovarian(172;0.0339) Epithelial(37;8.28e-34)|OV - Ovarian serous cystadenocarcinoma(80;2.72e-22) GCACTCTCTCCAACTCCCGTG 0.662000 12 60 0 0 0.00010058 0 0 NPHS2 7827 broad.mit.edu 37 1 179520438 179520438 + Missense_Mutation SNP G G A TCGA-D3-A2JL-06A-11D-A196-08 TCGA-D3-A2JL-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 06d6341f-cb6d-4a7e-9213-c7bb394aca56 bf91785e-7b33-4bd0-8ff5-c20c20b4e985 g.chr1:179520438G>A ENST00000367615.4 - 8 1090 c.1022C>T c.(1021-1023)cCt>cTt p.P341L AXDND1_ENST00000367618.3_Intron|NPHS2_ENST00000367616.4_Missense_Mutation_p.P273L NM_014625.2 NP_055440.1 Q9NP85 PODO_HUMAN nephrosis 2, idiopathic, steroid-resistant (podocin) 341 excretion integral to plasma membrane protein binding NS(1)|endometrium(1)|large_intestine(3)|lung(10)|skin(1)|stomach(1)|upper_aerodigestive_tract(3) 20 AAATGGCAAAGGTAAAACCAC 0.522000 11 26 0 0 0.000151284 0 0 FLG 2312 broad.mit.edu 37 1 152285890 152285890 + Missense_Mutation SNP C C T TCGA-D3-A2JL-06A-11D-A196-08 TCGA-D3-A2JL-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 06d6341f-cb6d-4a7e-9213-c7bb394aca56 bf91785e-7b33-4bd0-8ff5-c20c20b4e985 g.chr1:152285890C>T ENST00000368799.1 - 3 1507 c.1472G>A c.(1471-1473)gGa>gAa p.G491E FLG-AS1_ENST00000593011.1_RNA|FLG-AS1_ENST00000420707.1_RNA NM_002016.1 NP_002007.1 P20930 FILA_HUMAN filaggrin 491 Ser-rich. keratinocyte differentiation cytoplasmic membrane-bounded vesicle|intermediate filament calcium ion binding|structural molecule activity autonomic_ganglia(1)|breast(13)|central_nervous_system(5)|cervix(2)|endometrium(38)|haematopoietic_and_lymphoid_tissue(1)|kidney(16)|large_intestine(57)|lung(211)|ovary(13)|pancreas(1)|prostate(15)|skin(24)|stomach(5)|upper_aerodigestive_tract(10)|urinary_tract(12) 424 Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127) LUSC - Lung squamous cell carcinoma(543;0.206) TCCTTGTCTTCCTCCAGTGCT 0.607000 Ichthyosis 36 112 0 0 8.91981e-05 0 0 AK7 122481 broad.mit.edu 37 14 96953373 96953373 + Missense_Mutation SNP G G A TCGA-D3-A2JL-06A-11D-A196-08 TCGA-D3-A2JL-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 06d6341f-cb6d-4a7e-9213-c7bb394aca56 bf91785e-7b33-4bd0-8ff5-c20c20b4e985 g.chr14:96953373G>A ENST00000267584.4 + 17 2157 c.2113G>A c.(2113-2115)Gaa>Aaa p.E705K NM_152327.3 NP_689540.2 Q96M32 KAD7_HUMAN adenylate kinase 7 705 DPY-30. cell projection organization cytosol adenylate kinase activity|ATP binding|cytidylate kinase activity breast(2)|cervix(2)|endometrium(3)|large_intestine(8)|lung(11)|ovary(1)|prostate(2)|skin(1)|urinary_tract(1) 31 all_cancers(154;0.0482)|all_epithelial(191;0.128)|Melanoma(154;0.155) Epithelial(152;0.134)|COAD - Colon adenocarcinoma(157;0.228) CGTCCGACCCGAAGACCCTGT 0.413000 38 90 0 0 0.000147903 0 0 U2SURP 23350 broad.mit.edu 37 3 142769799 142769799 + Nonsense_Mutation SNP C C T TCGA-D3-A2JL-06A-11D-A196-08 TCGA-D3-A2JL-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 06d6341f-cb6d-4a7e-9213-c7bb394aca56 bf91785e-7b33-4bd0-8ff5-c20c20b4e985 g.chr3:142769799C>T ENST00000397933.2 + 24 2618 c.1336C>T c.(1336-1338)Cag>Tag p.Q446* U2SURP_ENST00000493598.2_Nonsense_Mutation_p.Q854*|U2SURP_ENST00000473835.2_Nonsense_Mutation_p.Q855* O15042 SR140_HUMAN U2 snRNP-associated SURP domain containing 855 RNA processing nucleus nucleotide binding|RNA binding NS(1)|breast(2)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(6)|lung(12)|ovary(2)|pancreas(1)|prostate(1)|skin(1) 31 TATGAAGTTTCAGGATGAATT 0.333000 11 52 0 0 6.40141e-05 0 0 CDH6 1004 broad.mit.edu 37 5 31305298 31305298 + Silent SNP G G A TCGA-D3-A2JL-06A-11D-A196-08 TCGA-D3-A2JL-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 06d6341f-cb6d-4a7e-9213-c7bb394aca56 bf91785e-7b33-4bd0-8ff5-c20c20b4e985 g.chr5:31305298G>A ENST00000265071.2 + 7 1282 c.1017G>A c.(1015-1017)aaG>aaA p.K339K CDH6_ENST00000514738.1_Silent_p.K284K NM_004932.3 NP_004923.1 P55285 CADH6_HUMAN cadherin 6, type 2, K-cadherin (fetal kidney) 339 Cadherin 3. adherens junction organization|cell junction assembly|homophilic cell adhesion cytoplasm|integral to membrane|nucleus|plasma membrane calcium ion binding NS(3)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(42)|ovary(4)|prostate(6)|skin(7)|upper_aerodigestive_tract(2)|urinary_tract(1) 77 ACTTTGAAAAGAAGAAAGTGT 0.438000 10 12 0 0 0.00010058 0 0 PCDHA13 56136 broad.mit.edu 37 5 140262123 140262123 + Silent SNP C C T TCGA-D3-A2JL-06A-11D-A196-08 TCGA-D3-A2JL-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 06d6341f-cb6d-4a7e-9213-c7bb394aca56 bf91785e-7b33-4bd0-8ff5-c20c20b4e985 g.chr5:140262123C>T ENST00000289272.2 + 1 270 c.270C>T c.(268-270)atC>atT p.I90I PCDHA10_ENST00000506939.2_Intron|PCDHA4_ENST00000512229.2_Intron|PCDHA2_ENST00000526136.1_Intron|PCDHA6_ENST00000527624.1_Intron|PCDHA3_ENST00000522353.2_Intron|PCDHA5_ENST00000529619.1_Intron|PCDHA9_ENST00000532602.1_Intron|PCDHA1_ENST00000504120.2_Intron|PCDHA10_ENST00000307360.5_Intron|PCDHA12_ENST00000398631.2_Intron|PCDHA5_ENST00000529859.1_Intron|PCDHA4_ENST00000530339.1_Intron|PCDHA1_ENST00000394633.3_Intron|PCDHA7_ENST00000525929.1_Intron|PCDHA6_ENST00000529310.1_Intron|PCDHA11_ENST00000398640.2_Intron|PCDHA8_ENST00000531613.1_Intron|PCDHA13_ENST00000409494.1_Silent_p.I90I NM_018904.2|NM_031865.1 NP_061727.1|NP_114071.1 NS(1)|biliary_tract(2)|breast(3)|central_nervous_system(2)|cervix(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(7)|kidney(2)|large_intestine(18)|liver(3)|lung(23)|ovary(4)|prostate(6)|skin(7)|upper_aerodigestive_tract(2)|urinary_tract(2) 95 KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191) ATTCTCGGATCGACCGCGAGG 0.592000 74 126 0 0 0.000147903 0 0 DTNBP1 84062 broad.mit.edu 37 6 15523240 15523240 + Missense_Mutation SNP G G A TCGA-D3-A2JL-06A-11D-A196-08 TCGA-D3-A2JL-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 06d6341f-cb6d-4a7e-9213-c7bb394aca56 bf91785e-7b33-4bd0-8ff5-c20c20b4e985 g.chr6:15523240G>A ENST00000344537.5 - 10 1194 c.1022C>T c.(1021-1023)gCc>gTc p.A341V DTNBP1_ENST00000355917.3_Missense_Mutation_p.A342V|DTNBP1_ENST00000462989.2_Missense_Mutation_p.A185V NM_032122.4 NP_115498.2 Q96EV8 DTBP1_HUMAN dystrobrevin binding protein 1 341 actin cytoskeleton reorganization|cellular membrane organization|neuron projection morphogenesis|post-Golgi vesicle-mediated transport|regulation of dopamine receptor signaling pathway axon part|BLOC-1 complex|cell junction|dendritic spine|endoplasmic reticulum membrane|endosome membrane|growth cone|melanosome membrane|nucleus|postsynaptic density|postsynaptic membrane|sarcolemma|synaptic vesicle membrane|synaptosome identical protein binding cervix(1)|endometrium(1)|kidney(2)|large_intestine(2)|lung(5)|ovary(1)|skin(2) 14 Breast(50;0.0289)|Ovarian(93;0.103) all_hematologic(90;0.0895) Epithelial(50;0.211) ATCCGGAGTGGCCTCTCTGTC 0.572000 Hermansky-Pudlak syndrome 36 97 0 0 0.000132358 0 0 AKAP13 11214 broad.mit.edu 37 15 86259042 86259042 + Missense_Mutation SNP C C T TCGA-D3-A2JL-06A-11D-A196-08 TCGA-D3-A2JL-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 06d6341f-cb6d-4a7e-9213-c7bb394aca56 bf91785e-7b33-4bd0-8ff5-c20c20b4e985 g.chr15:86259042C>T ENST00000394518.2 + 20 5718 c.5623C>T c.(5623-5625)Cgg>Tgg p.R1875W AKAP13_ENST00000361243.2_Missense_Mutation_p.R1879W|AKAP13_ENST00000560579.1_3'UTR|AKAP13_ENST00000394510.2_Missense_Mutation_p.R120W NM_001270546.1|NM_007200.3 NP_001257475.1|NP_009131.2 Q12802 AKP13_HUMAN A kinase (PRKA) anchor protein 13 1875 apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction cytosol|membrane|membrane fraction|nucleus cAMP-dependent protein kinase activity|metal ion binding|protein binding|Rho guanyl-nucleotide exchange factor activity|signal transducer activity NS(1)|breast(2)|central_nervous_system(4)|endometrium(12)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(13)|liver(1)|lung(43)|ovary(1)|prostate(1)|skin(2)|urinary_tract(1) 98 GGAGCGTCCTCGGTCCGCAGT 0.532000 14 47 0 0 0.000151284 0 0 SPINK14 408187 broad.mit.edu 37 5 147549340 147549340 + Silent SNP G G A TCGA-D3-A2JL-06A-11D-A196-08 TCGA-D3-A2JL-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 06d6341f-cb6d-4a7e-9213-c7bb394aca56 bf91785e-7b33-4bd0-8ff5-c20c20b4e985 g.chr5:147549340G>A ENST00000356972.1 + 1 45 c.45G>A c.(43-45)ttG>ttA p.L15L SPINK14_ENST00000562793.1_Silent_p.L15L NM_001001325.1 NP_001001325.1 Q6IE38 ISK14_HUMAN serine peptidase inhibitor, Kazal type 14 (putative) 15 extracellular region serine-type endopeptidase inhibitor activity breast(1)|large_intestine(1)|lung(1) 3 CCTTTATCTTGATACATTTGG 0.393000 6 3 0 0 3.59834e-05 0 0 ARHGEF2 9181 broad.mit.edu 37 1 155935153 155935153 + Missense_Mutation SNP G G A TCGA-D3-A2JL-06A-11D-A196-08 TCGA-D3-A2JL-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 06d6341f-cb6d-4a7e-9213-c7bb394aca56 bf91785e-7b33-4bd0-8ff5-c20c20b4e985 g.chr1:155935153G>A ENST00000368316.1 - 10 910 c.440C>T c.(439-441)tCc>tTc p.S147F ARHGEF2_ENST00000361247.4_Missense_Mutation_p.S174F|ARHGEF2_ENST00000313695.7_Missense_Mutation_p.S147F|ARHGEF2_ENST00000368315.3_Missense_Mutation_p.S175F|ARHGEF2_ENST00000313667.4_Missense_Mutation_p.S174F Q92974 ARHG2_HUMAN Rho/Rac guanine nucleotide exchange factor (GEF) 2 174 actin filament organization|apoptosis|cell division|cell morphogenesis|induction of apoptosis by extracellular signals|intracellular protein transport|mitosis|negative regulation of microtubule depolymerization|nerve growth factor receptor signaling pathway|positive regulation of NF-kappaB transcription factor activity|regulation of cell proliferation|regulation of Rho protein signal transduction|small GTPase mediated signal transduction cytosol|Golgi apparatus|microtubule|ruffle membrane|spindle|tight junction microtubule binding|Rac GTPase binding|Rac guanyl-nucleotide exchange factor activity|zinc ion binding breast(4)|cervix(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(4)|kidney(2)|large_intestine(6)|lung(15)|ovary(1)|skin(2) 40 Hepatocellular(266;0.133)|all_hematologic(923;0.145)|all_neural(408;0.195) GGAGTCTGTGGACTGTGAGAG 0.577000 30 54 0 0 0.000132358 0 0 ZNF480 147657 broad.mit.edu 37 19 52817502 52817502 + Silent SNP T T C TCGA-D3-A2JL-06A-11D-A196-08 TCGA-D3-A2JL-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 06d6341f-cb6d-4a7e-9213-c7bb394aca56 bf91785e-7b33-4bd0-8ff5-c20c20b4e985 g.chr19:52817502T>C ENST00000595962.1 + 3 235 c.169T>C c.(169-171)Ttg>Ctg p.L57L ZNF480_ENST00000334564.7_Silent_p.L57L|ZNF480_ENST00000490272.1_Intron|ZNF480_ENST00000335090.6_Intron|CTD-2525I3.6_ENST00000594379.1_RNA NM_144684.2 NP_653285.2 Q8WV37 ZN480_HUMAN zinc finger protein 480 57 KRAB. regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus nucleic acid binding|zinc ion binding endometrium(2)|kidney(1)|large_intestine(3)|lung(4)|prostate(1)|upper_aerodigestive_tract(1) 12 GBM - Glioblastoma multiforme(134;0.00212)|OV - Ovarian serous cystadenocarcinoma(262;0.00369) GGATGTGATGTTGGAGAACTA 0.522000 9 26 0 0 2.17888e-05 0 0 WARS2 10352 broad.mit.edu 37 1 119575597 119575597 + Silent SNP T T C TCGA-D3-A2JL-06A-11D-A196-08 TCGA-D3-A2JL-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 06d6341f-cb6d-4a7e-9213-c7bb394aca56 bf91785e-7b33-4bd0-8ff5-c20c20b4e985 g.chr1:119575597T>C ENST00000235521.4 - 6 1046 c.1020A>G c.(1018-1020)gcA>gcG p.A340A WARS2_ENST00000537870.1_Silent_p.A246A|WARS2_ENST00000369426.5_3'UTR NM_015836.3|NM_201263.2 NP_056651.1|NP_957715.1 Q9UGM6 SYWM_HUMAN tryptophanyl tRNA synthetase 2, mitochondrial 340 tryptophanyl-tRNA aminoacylation mitochondrial matrix ATP binding|tryptophan-tRNA ligase activity breast(1)|endometrium(1)|kidney(2)|large_intestine(2)|lung(7)|prostate(2) 15 all_neural(166;0.187) all_lung(203;2.48e-06)|Lung NSC(69;1.74e-05)|all_epithelial(167;0.000564) Lung(183;0.0629) L-Tryptophan(DB00150) CTTTGGCTTTTGCTGATCCAA 0.408000 36 107 0 0 0.000109025 0 0 OR2T1 26696 broad.mit.edu 37 1 248569723 248569723 + Missense_Mutation SNP C C T TCGA-D3-A2JL-06A-11D-A196-08 TCGA-D3-A2JL-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 06d6341f-cb6d-4a7e-9213-c7bb394aca56 bf91785e-7b33-4bd0-8ff5-c20c20b4e985 g.chr1:248569723C>T ENST00000366474.1 + 1 428 c.428C>T c.(427-429)tCc>tTc p.S143F NM_030904.1 NP_112166.1 O43869 OR2T1_HUMAN olfactory receptor, family 2, subfamily T, member 1 143 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity NS(1)|endometrium(1)|kidney(1)|large_intestine(5)|lung(24)|pancreas(1)|prostate(2)|skin(2)|stomach(1)|urinary_tract(1) 39 all_cancers(71;0.000108)|all_epithelial(71;1.03e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136) OV - Ovarian serous cystadenocarcinoma(106;0.0265) AGGACCATTTCCTTTGTGGGG 0.473000 12 14 0 0 6.40141e-05 0 0 SLC13A2 9058 broad.mit.edu 37 17 26818751 26818751 + Silent SNP C C A TCGA-D3-A2JL-06A-11D-A196-08 TCGA-D3-A2JL-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 06d6341f-cb6d-4a7e-9213-c7bb394aca56 bf91785e-7b33-4bd0-8ff5-c20c20b4e985 g.chr17:26818751C>A ENST00000444914.3 + 6 1326 c.906C>A c.(904-906)ctC>ctA p.L302L SLC13A2_ENST00000537681.1_Silent_p.L182L|SLC13A2_ENST00000314669.5_Silent_p.L253L|SLC13A2_ENST00000545060.1_Silent_p.L210L NM_001145975.1 NP_001139447.1 Q13183 S13A2_HUMAN solute carrier family 13 (sodium-dependent dicarboxylate transporter), member 2 253 integral to plasma membrane|membrane fraction low affinity sodium:dicarboxylate symporter activity breast(2)|endometrium(2)|kidney(1)|large_intestine(8)|lung(10)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 26 all_lung(13;0.000871)|Lung NSC(42;0.0027) UCEC - Uterine corpus endometrioid carcinoma (53;0.154) Succinic acid(DB00139) CCTTCAGGCTCTTCCCCCAAA 0.602000 15 70 6.72482e-11 1.7359e-09 0.000308642 1 0 PLIN5 440503 broad.mit.edu 37 19 4523747 4523747 + Silent SNP C C T TCGA-D3-A2JL-06A-11D-A196-08 TCGA-D3-A2JL-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 06d6341f-cb6d-4a7e-9213-c7bb394aca56 bf91785e-7b33-4bd0-8ff5-c20c20b4e985 g.chr19:4523747C>T ENST00000381848.3 - 8 1265 c.1185G>A c.(1183-1185)ctG>ctA p.L395L NM_001013706.2 NP_001013728.2 Q00G26 PLIN5_HUMAN perilipin 5 395 lipid particle endometrium(4)|lung(3)|skin(2)|upper_aerodigestive_tract(1) 10 CCTCGTCCACCAGGTCCGCCA 0.731000 18 46 0 0 0.000175454 0 0 CYP2B7P 1556 broad.mit.edu 37 19 41450753 41450753 + RNA SNP C C T TCGA-D3-A2JL-06A-11D-A196-08 TCGA-D3-A2JL-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 06d6341f-cb6d-4a7e-9213-c7bb394aca56 bf91785e-7b33-4bd0-8ff5-c20c20b4e985 g.chr19:41450753C>T ENST00000599198.1 + 0 1344 NR_001278.1 NS(1)|endometrium(6)|kidney(1)|lung(2)|ovary(1)|skin(1) 12 TCCCCTTCTCCTTAGGTAAGC 0.453000 11 71 0 0 0.000219431 0 0 FBXL18 80028 broad.mit.edu 37 7 5521422 5521422 + Missense_Mutation SNP G G A TCGA-D3-A2JL-06A-11D-A196-08 TCGA-D3-A2JL-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 06d6341f-cb6d-4a7e-9213-c7bb394aca56 bf91785e-7b33-4bd0-8ff5-c20c20b4e985 g.chr7:5521422G>A ENST00000382368.3 - 5 2264 c.2141C>T c.(2140-2142)cCg>cTg p.P714L NM_024963.4 NP_079239.3 Q96ME1 FXL18_HUMAN F-box and leucine-rich repeat protein 18 0 FBXL18/RNF216(2) central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(10)|ovary(3) 21 Ovarian(82;0.0607) UCEC - Uterine corpus endometrioid carcinoma (126;0.181)|OV - Ovarian serous cystadenocarcinoma(56;3.64e-13) CCACAGGTTCGGCGGTTCCTC 0.632000 62 118 0 0 0.000147903 0 0 C6orf118 168090 broad.mit.edu 37 6 165715662 165715662 + Missense_Mutation SNP T T A TCGA-D3-A2JL-06A-11D-A196-08 TCGA-D3-A2JL-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 06d6341f-cb6d-4a7e-9213-c7bb394aca56 bf91785e-7b33-4bd0-8ff5-c20c20b4e985 g.chr6:165715662T>A ENST00000230301.8 - 2 169 c.149A>T c.(148-150)aAa>aTa p.K50I C6orf118_ENST00000543069.1_5'UTR NM_144980.3 NP_659417.2 Q5T5N4 CF118_HUMAN chromosome 6 open reading frame 118 50 breast(1)|kidney(2)|large_intestine(9)|liver(1)|lung(21)|prostate(2)|skin(3)|upper_aerodigestive_tract(1) 40 Breast(66;6.27e-05)|Ovarian(120;0.0228)|Prostate(117;0.0906)|all_neural(5;0.157) OV - Ovarian serous cystadenocarcinoma(33;3.23e-18)|BRCA - Breast invasive adenocarcinoma(81;3.11e-06)|GBM - Glioblastoma multiforme(31;0.000313) CCGGTGGTCTTTCTGAAGCCG 0.547000 41 40 0 0 0.000437636 0 0 ZFHX4 79776 broad.mit.edu 37 8 77768164 77768164 + Missense_Mutation SNP G G A TCGA-D3-A2JL-06A-11D-A196-08 TCGA-D3-A2JL-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 06d6341f-cb6d-4a7e-9213-c7bb394aca56 bf91785e-7b33-4bd0-8ff5-c20c20b4e985 g.chr8:77768164G>A ENST00000521891.2 + 10 9455 c.9007G>A c.(9007-9009)Gaa>Aaa p.E3003K ZFHX4_ENST00000050961.6_Missense_Mutation_p.E2958K|ZFHX4_ENST00000455469.2_Missense_Mutation_p.E2958K|ZFHX4_ENST00000518282.1_Missense_Mutation_p.E2977K NM_024721.4 NP_078997.4 Q86UP3 ZFHX4_HUMAN zinc finger homeobox 4 2958 nucleus sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding NS(3)|breast(11)|central_nervous_system(1)|endometrium(36)|haematopoietic_and_lymphoid_tissue(2)|kidney(15)|large_intestine(66)|liver(2)|lung(245)|ovary(11)|pancreas(3)|prostate(11)|skin(7)|upper_aerodigestive_tract(13)|urinary_tract(6) 432 BRCA - Breast invasive adenocarcinoma(89;0.0895) AGGCGGAACGGAAGGCACCAA 0.458000 HNSCC(33;0.089) 4 8 0 0 0.00024832 0 0 WBSCR17 64409 broad.mit.edu 37 7 70800662 70800662 + Missense_Mutation SNP C C T TCGA-D3-A2JL-06A-11D-A196-08 TCGA-D3-A2JL-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 06d6341f-cb6d-4a7e-9213-c7bb394aca56 bf91785e-7b33-4bd0-8ff5-c20c20b4e985 g.chr7:70800662C>T ENST00000333538.5 + 2 999 c.365C>T c.(364-366)tCa>tTa p.S122L WBSCR17_ENST00000498380.2_3'UTR NM_022479.1 NP_071924.1 Q6IS24 GLTL3_HUMAN Williams-Beuren syndrome chromosome region 17 122 Golgi membrane|integral to membrane polypeptide N-acetylgalactosaminyltransferase activity|sugar binding NS(5)|breast(2)|central_nervous_system(1)|endometrium(7)|kidney(7)|large_intestine(22)|lung(45)|ovary(2)|pancreas(2)|prostate(1)|skin(4)|upper_aerodigestive_tract(2) 100 all_cancers(73;0.2)|Lung NSC(55;0.094)|all_lung(88;0.125) GGCTACAATTCATACCTCAGT 0.502000 7 25 0 0 0.000274275 0 0 SQSTM1 8878 broad.mit.edu 37 5 179260650 179260650 + Missense_Mutation SNP G G A TCGA-D3-A2JL-06A-11D-A196-08 TCGA-D3-A2JL-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 06d6341f-cb6d-4a7e-9213-c7bb394aca56 bf91785e-7b33-4bd0-8ff5-c20c20b4e985 g.chr5:179260650G>A ENST00000389805.4 + 7 1211 c.1033G>A c.(1033-1035)Gaa>Aaa p.E345K SQSTM1_ENST00000360718.5_Missense_Mutation_p.E261K|SQSTM1_ENST00000510187.1_Intron|SQSTM1_ENST00000402874.3_Missense_Mutation_p.E261K|SQSTM1_ENST00000376929.3_Missense_Mutation_p.E261K NM_003900.4 NP_003891.1 Q13501 SQSTM_HUMAN sequestosome 1 345 Interaction with NTRK1 (By similarity). anti-apoptosis|apoptosis|cell differentiation|endosome transport|induction of apoptosis by extracellular signals|intracellular signal transduction|macroautophagy|nerve growth factor receptor signaling pathway|positive regulation of transcription from RNA polymerase II promoter|protein localization|regulation of I-kappaB kinase/NF-kappaB cascade|ubiquitin-dependent protein catabolic process cytosol|late endosome|nucleoplasm protein kinase C binding|receptor tyrosine kinase binding|SH2 domain binding|ubiquitin binding|zinc ion binding SQSTM1/ALK(2) NS(1)|breast(1)|endometrium(1)|large_intestine(2)|liver(2)|lung(5)|ovary(1) 13 all_cancers(89;0.000205)|all_epithelial(37;7.15e-05)|Renal(175;0.000159)|Lung NSC(126;0.00136)|all_lung(126;0.00243) all_cancers(40;0.0395)|Medulloblastoma(196;0.00498)|all_neural(177;0.0138) Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178) GTCTTCAAAAGAAGTGGACCC 0.542000 14 36 0 0 0.000219431 0 0 CTAGE1 64693 broad.mit.edu 37 18 19996016 19996016 + Missense_Mutation SNP C C T TCGA-D3-A2JL-06A-11D-A196-08 TCGA-D3-A2JL-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 06d6341f-cb6d-4a7e-9213-c7bb394aca56 bf91785e-7b33-4bd0-8ff5-c20c20b4e985 g.chr18:19996016C>T ENST00000391403.2 - 1 1862 c.1759G>A c.(1759-1761)Gct>Act p.A587T NM_172241.2 NP_758441.2 Q96RT6 CTGE2_HUMAN cutaneous T-cell lymphoma-associated antigen 1 587 integral to membrane cervix(1)|endometrium(2)|kidney(3)|large_intestine(1)|lung(19)|ovary(1) 27 all_cancers(21;0.000361)|all_epithelial(16;9.61e-06)|Colorectal(14;0.0533)|Lung NSC(20;0.0605)|Ovarian(2;0.116)|all_lung(20;0.135) GGAGGGAGAGCTGAATCAGGA 0.473000 21 42 0 0 0.000295444 0 0 C16orf45 89927 broad.mit.edu 37 16 15609187 15609187 + Silent SNP G G A TCGA-D3-A2JL-06A-11D-A196-08 TCGA-D3-A2JL-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 06d6341f-cb6d-4a7e-9213-c7bb394aca56 bf91785e-7b33-4bd0-8ff5-c20c20b4e985 g.chr16:15609187G>A ENST00000300006.4 + 2 491 c.132G>A c.(130-132)gcG>gcA p.A44A C16orf45_ENST00000452191.2_Silent_p.A27A|RP11-1021N1.1_ENST00000568222.1_3'UTR|C16orf45_ENST00000566490.1_Silent_p.A44A NM_033201.2 NP_149978.1 Q96MC5 CP045_HUMAN chromosome 16 open reading frame 45 44 endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(3)|ovary(1) 11 TCTCCATGGCGGAGACAACCA 0.547000 18 35 0 0 0.000229342 0 0 OR9Q1 219956 broad.mit.edu 37 11 57947716 57947716 + Missense_Mutation SNP C C T rs142831243 TCGA-D3-A2JL-06A-11D-A196-08 TCGA-D3-A2JL-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 06d6341f-cb6d-4a7e-9213-c7bb394aca56 bf91785e-7b33-4bd0-8ff5-c20c20b4e985 g.chr11:57947716C>T ENST00000335397.3 + 3 1116 c.800C>T c.(799-801)tCg>tTg p.S267L NM_001005212.3 NP_001005212.1 Q8NGQ5 OR9Q1_HUMAN olfactory receptor, family 9, subfamily Q, member 1 267 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity cervix(1)|endometrium(3)|kidney(1)|large_intestine(1)|liver(1)|lung(12)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2) 26 Breast(21;0.222) GATCAGTCTTCGGAGAAGAAT 0.512000 4 15 0 0 0.00024832 0 0 RBBP6 5930 broad.mit.edu 37 16 24581764 24581764 + Silent SNP C C T TCGA-D3-A2JL-06A-11D-A196-08 TCGA-D3-A2JL-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 06d6341f-cb6d-4a7e-9213-c7bb394aca56 bf91785e-7b33-4bd0-8ff5-c20c20b4e985 g.chr16:24581764C>T ENST00000319715.4 + 17 4185 c.3753C>T c.(3751-3753)gtC>gtT p.V1251V RBBP6_ENST00000381039.3_Intron|RBBP6_ENST00000348022.2_Silent_p.V1217V NM_006910.4 NP_008841.2 Q7Z6E9 RBBP6_HUMAN retinoblastoma binding protein 6 1251 protein ubiquitination involved in ubiquitin-dependent protein catabolic process chromosome|nucleolus|ubiquitin ligase complex nucleic acid binding|protein binding|ubiquitin-protein ligase activity|zinc ion binding NS(1)|breast(3)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(10)|lung(17)|ovary(4)|pancreas(1)|prostate(2)|urinary_tract(1) 46 GBM - Glioblastoma multiforme(48;0.0518) AAGGAAAGGTCAGACGAAAAG 0.413000 17 54 0 0 7.07596e-05 0 0 SF3B1 23451 broad.mit.edu 37 2 198265476 198265476 + Missense_Mutation SNP T T C TCGA-D3-A2JL-06A-11D-A196-08 TCGA-D3-A2JL-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 06d6341f-cb6d-4a7e-9213-c7bb394aca56 bf91785e-7b33-4bd0-8ff5-c20c20b4e985 g.chr2:198265476T>C ENST00000335508.5 - 18 2772 c.2681A>G c.(2680-2682)gAt>gGt p.D894G NM_012433.2 NP_036565.2 O75533 SF3B1_HUMAN splicing factor 3b, subunit 1, 155kDa 894 nuclear mRNA splicing, via spliceosome catalytic step 2 spliceosome|nuclear speck|U12-type spliceosomal complex protein binding p.D894G(1) NS(35)|breast(10)|central_nervous_system(3)|endometrium(8)|haematopoietic_and_lymphoid_tissue(524)|kidney(4)|large_intestine(10)|lung(19)|ovary(1)|pancreas(4)|prostate(6)|salivary_gland(1)|skin(4)|testis(1)|upper_aerodigestive_tract(1)|urinary_tract(2) 633 OV - Ovarian serous cystadenocarcinoma(117;0.246) AAGAATACCATCAATCAGTTG 0.333000 Mis myelodysplastic syndrome 12 25 0 0 0.000219431 0 0 ERN2 10595 broad.mit.edu 37 16 23702489 23702489 + Silent SNP C C T TCGA-D3-A2JL-06A-11D-A196-08 TCGA-D3-A2JL-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 06d6341f-cb6d-4a7e-9213-c7bb394aca56 bf91785e-7b33-4bd0-8ff5-c20c20b4e985 g.chr16:23702489C>T ENST00000256797.4 - 21 2841 c.2673G>A c.(2671-2673)ggG>ggA p.G891G ERN2_ENST00000457008.2_Silent_p.G791G NM_033266.3 NP_150296.3 Q76MJ5 ERN2_HUMAN endoplasmic reticulum to nucleus signaling 2 843 KEN. apoptosis|induction of apoptosis|mRNA processing|negative regulation of transcription, DNA-dependent|rRNA catabolic process|transcription, DNA-dependent endoplasmic reticulum membrane|integral to membrane ATP binding|endoribonuclease activity, producing 5'-phosphomonoesters|magnesium ion binding|protein serine/threonine kinase activity large_intestine(2)|lung(2)|ovary(2) 6 GBM - Glioblastoma multiforme(48;0.0156) GCACTGATGTCCCCTTATAGG 0.617000 43 103 0 0 0.000147903 0 0 ZAN 7455 broad.mit.edu 37 7 100350192 100350192 + RNA SNP C C A TCGA-D3-A2JL-06A-11D-A196-08 TCGA-D3-A2JL-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 06d6341f-cb6d-4a7e-9213-c7bb394aca56 bf91785e-7b33-4bd0-8ff5-c20c20b4e985 g.chr7:100350192C>A ENST00000542585.1 + 0 2612 ZAN_ENST00000538115.1_RNA|ZAN_ENST00000546213.1_RNA|ZAN_ENST00000348028.3_RNA|ZAN_ENST00000349350.6_RNA|ZAN_ENST00000427578.1_RNA|ZAN_ENST00000449052.1_RNA|ZAN_ENST00000546292.1_RNA|ZAN_ENST00000443370.1_RNA|ZAN_ENST00000421100.1_RNA NM_003386.1 NP_003377.1 Q9Y493 ZAN_HUMAN zonadhesin (gene/pseudogene) binding of sperm to zona pellucida|cell-cell adhesion integral to membrane|plasma membrane NS(2)|breast(3)|central_nervous_system(3)|endometrium(21)|kidney(6)|large_intestine(18)|lung(60)|ovary(4)|pancreas(3)|prostate(5)|skin(8)|stomach(3)|upper_aerodigestive_tract(3) 139 Lung NSC(181;0.041)|all_lung(186;0.0581) STAD - Stomach adenocarcinoma(171;0.19) CATGGAAAAACCCACTCTCCC 0.512000 12 116 2.62699e-14 6.79571e-13 0.000308642 1 0 HIVEP2 3097 broad.mit.edu 37 6 143092937 143092937 + Missense_Mutation SNP G G A TCGA-D3-A2JL-06A-11D-A196-08 TCGA-D3-A2JL-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 06d6341f-cb6d-4a7e-9213-c7bb394aca56 bf91785e-7b33-4bd0-8ff5-c20c20b4e985 g.chr6:143092937G>A ENST00000367603.2 - 5 3681 c.2939C>T c.(2938-2940)tCc>tTc p.S980F HIVEP2_ENST00000012134.2_Missense_Mutation_p.S980F|HIVEP2_ENST00000367604.1_Missense_Mutation_p.S980F NM_006734.3 NP_006725.3 P31629 ZEP2_HUMAN human immunodeficiency virus type I enhancer binding protein 2 980 Ser-rich. regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding NS(2)|breast(4)|central_nervous_system(6)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(19)|lung(35)|ovary(4)|prostate(6)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 100 OV - Ovarian serous cystadenocarcinoma(155;1.61e-05)|GBM - Glioblastoma multiforme(68;0.0102) AAAAGACATGGAGAAACTGGA 0.512000 42 61 0 0 0.000437636 0 0 OCRL 4952 broad.mit.edu 37 X 128691357 128691357 + Silent SNP C C T TCGA-D3-A2JL-06A-11D-A196-08 TCGA-D3-A2JL-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 06d6341f-cb6d-4a7e-9213-c7bb394aca56 bf91785e-7b33-4bd0-8ff5-c20c20b4e985 g.chrX:128691357C>T ENST00000371113.4 + 5 459 c.294C>T c.(292-294)atC>atT p.I98I OCRL_ENST00000486673.1_3'UTR|OCRL_ENST00000357121.5_Silent_p.I98I NM_000276.3 NP_000267.2 Q01968 OCRL_HUMAN oculocerebrorenal syndrome of Lowe 98 regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction clathrin-coated vesicle|cytosol|early endosome|Golgi stack|Golgi-associated vesicle GTPase activator activity|phosphatidylinositol-4,5-bisphosphate 5-phosphatase activity|protein binding breast(1)|endometrium(3)|kidney(4)|large_intestine(11)|lung(24)|ovary(2)|upper_aerodigestive_tract(3) 48 GCTTTGAAATCCCTGATGAGG 0.433000 36 47 0 0 0.000437636 0 0 WDR3 10885 broad.mit.edu 37 1 118499811 118499811 + Silent SNP C C T TCGA-D3-A2JL-06A-11D-A196-08 TCGA-D3-A2JL-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 06d6341f-cb6d-4a7e-9213-c7bb394aca56 bf91785e-7b33-4bd0-8ff5-c20c20b4e985 g.chr1:118499811C>T ENST00000349139.4 + 25 2621 c.2574C>T c.(2572-2574)ttC>ttT p.F858F SPAG17_ENST00000336338.5_Intron NM_006784.2 NP_006775.1 Q9UNX4 WDR3_HUMAN WD repeat domain 3 858 nuclear membrane|nucleolus breast(2)|cervix(2)|endometrium(5)|kidney(4)|large_intestine(9)|liver(2)|lung(22)|prostate(2)|upper_aerodigestive_tract(1) 49 Esophageal squamous(2;0.162) all_cancers(81;2.72e-05)|Acute lymphoblastic leukemia(138;1e-08)|all_epithelial(167;4.4e-07)|all_lung(203;1.7e-06)|Lung NSC(69;1.98e-05)|Prostate(1639;0.00955)|Breast(1374;0.244) OV - Ovarian serous cystadenocarcinoma(397;1.39e-08)|Epithelial(280;1.82e-07)|all cancers(265;2.04e-05)|Lung(183;0.0525)|BRCA - Breast invasive adenocarcinoma(282;0.0695)|COAD - Colon adenocarcinoma(174;0.111)|LUSC - Lung squamous cell carcinoma(189;0.185) GCCTCTTCTTCCTCCTTAGGT 0.413000 10 66 0 0 0.000151284 0 0 ZCCHC5 203430 broad.mit.edu 37 X 77913863 77913863 + Missense_Mutation SNP G G A rs148985625 TCGA-D3-A2JL-06A-11D-A196-08 TCGA-D3-A2JL-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 06d6341f-cb6d-4a7e-9213-c7bb394aca56 bf91785e-7b33-4bd0-8ff5-c20c20b4e985 g.chrX:77913863G>A ENST00000321110.1 - 2 350 c.55C>T c.(55-57)Cgg>Tgg p.R19W NM_152694.2 NP_689907.1 Q8N8U3 ZCHC5_HUMAN zinc finger, CCHC domain containing 5 19 nucleic acid binding|zinc ion binding breast(3)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(3)|large_intestine(6)|lung(18)|ovary(1)|prostate(1)|skin(1) 37 TGAGCCTGCCGAATTTCATTC 0.463000 6 37 0 0 8.12818e-05 0 0 SRCIN1 80725 broad.mit.edu 37 17 36708983 36708983 + Silent SNP C C T TCGA-D3-A2JL-06A-11D-A196-08 TCGA-D3-A2JL-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 06d6341f-cb6d-4a7e-9213-c7bb394aca56 bf91785e-7b33-4bd0-8ff5-c20c20b4e985 g.chr17:36708983C>T ENST00000264659.7 - 12 2534 c.2310G>A c.(2308-2310)ggG>ggA p.G770G SRCIN1_ENST00000578925.1_Silent_p.G804G|SRCIN1_ENST00000398579.4_5'UTR NM_025248.2 NP_079524.2 Q9C0H9 SRCN1_HUMAN SRC kinase signaling inhibitor 1 642 exocytosis|negative regulation of protein tyrosine kinase activity|positive regulation of protein tyrosine kinase activity|regulation of cell migration|regulation of dendritic spine morphogenesis|substrate adhesion-dependent cell spreading actin cytoskeleton|axon|cell junction|cytoplasm|dendrite|postsynaptic density|postsynaptic membrane protein kinase binding endometrium(2)|kidney(1)|large_intestine(6)|lung(9)|prostate(1) 19 TCAGCGTCTCCCCGAGCTGCT 0.617000 52 36 0 0 0.000147903 0 0 EN2 2020 broad.mit.edu 37 7 155255099 155255099 + Missense_Mutation SNP C C T TCGA-D3-A2JL-06A-11D-A196-08 TCGA-D3-A2JL-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 06d6341f-cb6d-4a7e-9213-c7bb394aca56 bf91785e-7b33-4bd0-8ff5-c20c20b4e985 g.chr7:155255099C>T ENST00000297375.4 + 2 968 c.719C>T c.(718-720)cCg>cTg p.P240L NM_001427.3 NP_001418.2 P19622 HME2_HUMAN engrailed homeobox 2 240 nucleus sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity central_nervous_system(1)|large_intestine(1)|lung(2) 4 all_neural(206;0.119) all_hematologic(28;0.0592) OV - Ovarian serous cystadenocarcinoma(82;0.011) UCEC - Uterine corpus endometrioid carcinoma (81;0.168) AAGAAGAACCCGAACAAAGAG 0.597000 10 80 0 0 2.17888e-05 0 0 PDE1A 5136 broad.mit.edu 37 2 183099217 183099217 + Missense_Mutation SNP C C T TCGA-D3-A2JL-06A-11D-A196-08 TCGA-D3-A2JL-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 06d6341f-cb6d-4a7e-9213-c7bb394aca56 bf91785e-7b33-4bd0-8ff5-c20c20b4e985 g.chr2:183099217C>T ENST00000435564.1 - 4 607 c.407G>A c.(406-408)cGa>cAa p.R136Q PDE1A_ENST00000456212.1_Missense_Mutation_p.R136Q|PDE1A_ENST00000482538.1_5'UTR|PDE1A_ENST00000536095.1_Missense_Mutation_p.R32Q|PDE1A_ENST00000331935.6_Missense_Mutation_p.R136Q|PDE1A_ENST00000410103.1_Missense_Mutation_p.R136Q|PDE1A_ENST00000358139.2_Missense_Mutation_p.R136Q|PDE1A_ENST00000346717.4_Missense_Mutation_p.R102Q|PDE1A_ENST00000351439.5_Missense_Mutation_p.R120Q|PDE1A_ENST00000409365.1_Missense_Mutation_p.R120Q NM_001258312.1|NM_005019.4 NP_001245241.1|NP_005010.2 P54750 PDE1A_HUMAN phosphodiesterase 1A, calmodulin-dependent 136 activation of phospholipase C activity|nerve growth factor receptor signaling pathway|platelet activation cytosol 3',5'-cyclic-AMP phosphodiesterase activity|3',5'-cyclic-GMP phosphodiesterase activity|calmodulin binding|calmodulin-dependent cyclic-nucleotide phosphodiesterase activity|metal ion binding endometrium(5)|large_intestine(3)|lung(12)|ovary(1)|pancreas(1)|skin(9)|upper_aerodigestive_tract(2)|urinary_tract(2) 35 OV - Ovarian serous cystadenocarcinoma(117;0.061) ATATGTTTTTCGGTACATTCT 0.269000 28 51 0 0 0.000279167 0 0 CTPS2 56474 broad.mit.edu 37 X 16688706 16688706 + Silent SNP G G A TCGA-D3-A2JL-06A-11D-A196-08 TCGA-D3-A2JL-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 06d6341f-cb6d-4a7e-9213-c7bb394aca56 bf91785e-7b33-4bd0-8ff5-c20c20b4e985 g.chrX:16688706G>A ENST00000443824.1 - 11 1929 c.1186C>T c.(1186-1188)Ctg>Ttg p.L396L CTPS2_ENST00000359276.4_Silent_p.L396L|CTPS2_ENST00000380241.3_Silent_p.L396L NM_001144002.1 NP_001137474.1 Q9NRF8 PYRG2_HUMAN CTP synthase 2 396 Glutamine amidotransferase type-1. glutamine metabolic process|nucleobase, nucleoside and nucleotide interconversion|pyrimidine nucleotide biosynthetic process cytosol ATP binding|CTP synthase activity breast(1)|endometrium(3)|large_intestine(4)|lung(6)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1) 19 Hepatocellular(33;0.0997) GTTTTACCCAGAAAAGGAATC 0.403000 75 178 0 0 0.000147903 0 0 DUSP18 150290 broad.mit.edu 37 22 31059613 31059613 + Missense_Mutation SNP G G A TCGA-D3-A2JL-06A-11D-A196-08 TCGA-D3-A2JL-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 06d6341f-cb6d-4a7e-9213-c7bb394aca56 bf91785e-7b33-4bd0-8ff5-c20c20b4e985 g.chr22:31059613G>A ENST00000403268.1 - 3 738 c.268C>T c.(268-270)Cct>Tct p.P90S DUSP18_ENST00000334679.3_Silent_p.S126S|DUSP18_ENST00000407308.1_Silent_p.S126S|DUSP18_ENST00000461301.1_Intron|DUSP18_ENST00000404885.1_Silent_p.S126S Q8NEJ0 DUS18_HUMAN dual specificity phosphatase 18 0 Tyrosine-protein phosphatase. cytoplasm|nucleus MAP kinase tyrosine/serine/threonine phosphatase activity|protein tyrosine phosphatase activity large_intestine(1)|lung(1)|prostate(1)|skin(1) 4 CGTCCAGCAGGGACATGGCGT 0.587000 5 65 0 0 1.23904e-05 0 0 IGLV1-51 28820 broad.mit.edu 37 22 22677150 22677150 + RNA SNP C C T TCGA-D3-A2JL-06A-11D-A196-08 TCGA-D3-A2JL-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 06d6341f-cb6d-4a7e-9213-c7bb394aca56 bf91785e-7b33-4bd0-8ff5-c20c20b4e985 g.chr22:22677150C>T ENST00000390290.2 + 0 214 LL22NC03-80A10.6_ENST00000426066.1_RNA CCAGCAGCTCCCAGGAACAGC 0.542000 84 74 0 0 0.000147903 0 0 PRR12 57479 broad.mit.edu 37 19 50105142 50105142 + Silent SNP C C T TCGA-D3-A2JL-06A-11D-A196-08 TCGA-D3-A2JL-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 06d6341f-cb6d-4a7e-9213-c7bb394aca56 bf91785e-7b33-4bd0-8ff5-c20c20b4e985 g.chr19:50105142C>T ENST00000418929.2 + 6 4752 c.4740C>T c.(4738-4740)ttC>ttT p.F1580F NM_020719.1 NP_065770.1 Q9ULL5 PRR12_HUMAN proline rich 12 759 DNA binding NS(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(2)|pancreas(1)|prostate(2) 11 all_lung(116;2.45e-07)|Lung NSC(112;1.24e-06)|Ovarian(192;0.0728)|all_neural(266;0.0887) OV - Ovarian serous cystadenocarcinoma(262;0.00319)|GBM - Glioblastoma multiforme(134;0.0132) GGGACGAGTTCGTCATCCGTG 0.612000 6 38 0 0 3.59834e-05 0 0 OR4D10 390197 broad.mit.edu 37 11 59245544 59245544 + Silent SNP C C T TCGA-D3-A2JL-06A-11D-A196-08 TCGA-D3-A2JL-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 06d6341f-cb6d-4a7e-9213-c7bb394aca56 bf91785e-7b33-4bd0-8ff5-c20c20b4e985 g.chr11:59245544C>T ENST00000530162.1 + 1 699 c.642C>T c.(640-642)ctC>ctT p.L214L NM_001004705.1 NP_001004705.1 Q8NGI6 OR4DA_HUMAN olfactory receptor, family 4, subfamily D, member 10 214 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity NS(1)|breast(2)|endometrium(2)|kidney(2)|large_intestine(4)|lung(12)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 30 TTTTCCTGCTCCTGGTGTCCT 0.488000 6 17 0 0 3.59834e-05 0 0 TAF8 129685 broad.mit.edu 37 6 42025228 42025228 + Missense_Mutation SNP C C T TCGA-D3-A2JL-06A-11D-A196-08 TCGA-D3-A2JL-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 06d6341f-cb6d-4a7e-9213-c7bb394aca56 bf91785e-7b33-4bd0-8ff5-c20c20b4e985 g.chr6:42025228C>T ENST00000372977.3 + 5 484 c.466C>T c.(466-468)Ccc>Tcc p.P156S TAF8_ENST00000494547.1_Missense_Mutation_p.P156S|TAF8_ENST00000456846.2_Missense_Mutation_p.P156S|TAF8_ENST00000482926.1_3'UTR|TAF8_ENST00000465926.1_Missense_Mutation_p.P93S|TAF8_ENST00000372978.3_Missense_Mutation_p.P156S|TAF8_ENST00000372982.4_Missense_Mutation_p.P156S NM_138572.2 NP_612639.2 Q7Z7C8 TAF8_HUMAN TAF8 RNA polymerase II, TATA box binding protein (TBP)-associated factor, 43kDa 156 cell differentiation|maintenance of protein location in nucleus|positive regulation of transcription, DNA-dependent|regulation of fat cell differentiation|transcription, DNA-dependent perinuclear region of cytoplasm|transcription factor TFIID complex DNA binding|protein binding endometrium(1)|large_intestine(1)|lung(2)|ovary(1)|prostate(1) 6 Colorectal(47;0.196) STAD - Stomach adenocarcinoma(11;0.000204)|Colorectal(64;0.00062)|COAD - Colon adenocarcinoma(64;0.00152)|Epithelial(12;0.00179) GTTCCCTGATCCCCACACCTA 0.592000 10 38 0 0 6.40141e-05 0 0 TECRL 253017 broad.mit.edu 37 4 65180469 65180469 + Missense_Mutation SNP C C T TCGA-D3-A2JL-06A-11D-A196-08 TCGA-D3-A2JL-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 06d6341f-cb6d-4a7e-9213-c7bb394aca56 bf91785e-7b33-4bd0-8ff5-c20c20b4e985 g.chr4:65180469C>T ENST00000381210.3 - 5 558 c.448G>A c.(448-450)Gaa>Aaa p.E150K TECRL_ENST00000507440.1_Missense_Mutation_p.E150K|TECRL_ENST00000513125.1_5'UTR NM_001010874.4 NP_001010874.2 Q5HYJ1 TECRL_HUMAN trans-2,3-enoyl-CoA reductase-like 150 lipid metabolic process cytoplasm|integral to membrane oxidoreductase activity, acting on the CH-CH group of donors endometrium(2)|kidney(5)|large_intestine(7)|lung(30)|prostate(1)|skin(1)|stomach(1) 47 CCTGTGTATTCAGCCAAAAAC 0.348000 13 36 0 0 0.00010058 0 0 OR2Z1 284383 broad.mit.edu 37 19 8841477 8841477 + Silent SNP C C T TCGA-D3-A2JL-06A-11D-A196-08 TCGA-D3-A2JL-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 06d6341f-cb6d-4a7e-9213-c7bb394aca56 bf91785e-7b33-4bd0-8ff5-c20c20b4e985 g.chr19:8841477C>T ENST00000324060.2 + 1 162 c.87C>T c.(85-87)tcC>tcT p.S29S NM_001004699.1 NP_001004699.1 Q8NG97 OR2Z1_HUMAN olfactory receptor, family 2, subfamily Z, member 1 29 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(2)|lung(7)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 18 TCCTCTTCTCCCTGGTGGCTG 0.537000 17 25 0 0 7.07596e-05 0 0 MS4A15 219995 broad.mit.edu 37 11 60541316 60541316 + Missense_Mutation SNP G G A TCGA-D3-A2JL-06A-11D-A196-08 TCGA-D3-A2JL-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 06d6341f-cb6d-4a7e-9213-c7bb394aca56 bf91785e-7b33-4bd0-8ff5-c20c20b4e985 g.chr11:60541316G>A ENST00000405633.3 + 6 584 c.505G>A c.(505-507)Gac>Aac p.D169N MS4A15_ENST00000528170.1_Missense_Mutation_p.D128N|MS4A15_ENST00000337911.4_Missense_Mutation_p.D76N NM_001098835.1 NP_001092305.1 Q8N5U1 M4A15_HUMAN membrane-spanning 4-domains, subfamily A, member 15 169 integral to membrane receptor activity breast(1)|large_intestine(2)|lung(3) 6 CCAGGATGTGGACAGGGGCTA 0.572000 19 68 0 0 0.000229342 0 0 ZFHX4 79776 broad.mit.edu 37 8 77768230 77768230 + Missense_Mutation SNP C C T TCGA-D3-A2JL-06A-11D-A196-08 TCGA-D3-A2JL-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 06d6341f-cb6d-4a7e-9213-c7bb394aca56 bf91785e-7b33-4bd0-8ff5-c20c20b4e985 g.chr8:77768230C>T ENST00000521891.2 + 10 9521 c.9073C>T c.(9073-9075)Cac>Tac p.H3025Y ZFHX4_ENST00000050961.6_Missense_Mutation_p.H2980Y|ZFHX4_ENST00000455469.2_Missense_Mutation_p.H2980Y|ZFHX4_ENST00000518282.1_Missense_Mutation_p.H2999Y NM_024721.4 NP_078997.4 Q86UP3 ZFHX4_HUMAN zinc finger homeobox 4 2980 nucleus sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding NS(3)|breast(11)|central_nervous_system(1)|endometrium(36)|haematopoietic_and_lymphoid_tissue(2)|kidney(15)|large_intestine(66)|liver(2)|lung(245)|ovary(11)|pancreas(3)|prostate(11)|skin(7)|upper_aerodigestive_tract(13)|urinary_tract(6) 432 BRCA - Breast invasive adenocarcinoma(89;0.0895) CATCAGAGATCACATTTTCTC 0.527000 HNSCC(33;0.089) 5 15 0 0 1.23904e-05 0 0 OFD1 8481 broad.mit.edu 37 X 13757012 13757012 + Silent SNP T T C TCGA-D3-A2JL-06A-11D-A196-08 TCGA-D3-A2JL-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 06d6341f-cb6d-4a7e-9213-c7bb394aca56 bf91785e-7b33-4bd0-8ff5-c20c20b4e985 g.chrX:13757012T>C ENST00000340096.6 + 4 687 c.360T>C c.(358-360)acT>acC p.T120T OFD1_ENST00000380550.3_Silent_p.T120T|OFD1_ENST00000398395.3_Silent_p.T120T|OFD1_ENST00000380567.1_5'UTR|OFD1_ENST00000490265.1_3'UTR NM_003611.2 NP_003602.1 O75665 OFD1_HUMAN oral-facial-digital syndrome 1 120 cilium movement involved in determination of left/right asymmetry|G2/M transition of mitotic cell cycle centriole|cilium|cytosol|microtubule basal body|nuclear membrane alpha-tubulin binding|gamma-tubulin binding breast(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(5)|lung(7)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1) 25 TCAACCCTACTTCCAGTCTCT 0.279000 31 151 0 0 0.000159656 0 0 NR4A2 4929 broad.mit.edu 37 2 157182748 157182748 + Missense_Mutation SNP G G A TCGA-D3-A2JL-06A-11D-A196-08 TCGA-D3-A2JL-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 06d6341f-cb6d-4a7e-9213-c7bb394aca56 bf91785e-7b33-4bd0-8ff5-c20c20b4e985 g.chr2:157182748G>A ENST00000339562.4 - 7 1816 c.1454C>T c.(1453-1455)tCc>tTc p.S485F NR4A2_ENST00000409108.2_Intron|NR4A2_ENST00000426264.1_Missense_Mutation_p.S422F|NR4A2_ENST00000409572.1_Missense_Mutation_p.S485F|NR4A2_ENST00000429376.1_Intron|NR4A2_ENST00000539077.1_Missense_Mutation_p.S496F NM_006186.3 NP_006177.1 P43354 NR4A2_HUMAN nuclear receptor subfamily 4, group A, member 2 485 cellular response to extracellular stimulus|dopaminergic neuron differentiation|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor|response to protein stimulus nucleoplasm sequence-specific DNA binding transcription factor activity|steroid hormone receptor activity|zinc ion binding breast(3)|endometrium(4)|kidney(1)|large_intestine(7)|lung(15)|ovary(5)|prostate(1)|skin(3)|urinary_tract(1) 40 TTCAACAATGGAATCAATCCA 0.488000 22 56 0 0 0.000117367 0 0 CPXM1 56265 broad.mit.edu 37 20 2775247 2775247 + Silent SNP G G A TCGA-D3-A2JL-06A-11D-A196-08 TCGA-D3-A2JL-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 06d6341f-cb6d-4a7e-9213-c7bb394aca56 bf91785e-7b33-4bd0-8ff5-c20c20b4e985 g.chr20:2775247G>A ENST00000380605.2 - 13 1963 c.1899C>T c.(1897-1899)gaC>gaT p.D633D NM_001184699.1|NM_019609.4 NP_001171628.1|NP_062555.1 Q96SM3 CPXM1_HUMAN carboxypeptidase X (M14 family), member 1 633 cell adhesion|proteolysis metallocarboxypeptidase activity|zinc ion binding endometrium(5)|kidney(5)|large_intestine(8)|lung(17)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1) 43 CAAGCTCCGTGTCCTTGTCCC 0.567000 34 77 0 0 8.96297e-05 0 0 SORCS2 57537 broad.mit.edu 37 4 7705995 7705995 + Missense_Mutation SNP G G A TCGA-D3-A2JL-06A-11D-A196-08 TCGA-D3-A2JL-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 06d6341f-cb6d-4a7e-9213-c7bb394aca56 bf91785e-7b33-4bd0-8ff5-c20c20b4e985 g.chr4:7705995G>A ENST00000507866.2 + 14 1961 c.1852G>A c.(1852-1854)Gag>Aag p.E618K SORCS2_ENST00000329016.9_Missense_Mutation_p.E446K NM_020777.2 NP_065828.2 Q96PQ0 SORC2_HUMAN sortilin-related VPS10 domain containing receptor 2 618 integral to membrane neuropeptide receptor activity autonomic_ganglia(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(9)|kidney(4)|large_intestine(8)|lung(8)|ovary(2)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(2) 42 GCCAGGGGACGAGACGCTGGT 0.657000 6 20 0 0 3.59834e-05 0 0 ARAF 369 broad.mit.edu 37 X 47426121 47426121 + Missense_Mutation SNP C C T TCGA-D3-A2JL-06A-11D-A196-08 TCGA-D3-A2JL-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 06d6341f-cb6d-4a7e-9213-c7bb394aca56 bf91785e-7b33-4bd0-8ff5-c20c20b4e985 g.chrX:47426121C>T ENST00000377045.4 + 7 835 c.641C>T c.(640-642)tCc>tTc p.S214F ARAF_ENST00000290277.6_Intron NM_001256196.1|NM_001654.4 NP_001243125.1|NP_001645.1 P10398 ARAF_HUMAN v-raf murine sarcoma 3611 viral oncogene homolog 214 intracellular signal transduction|negative regulation of apoptosis|positive regulation of peptidyl-serine phosphorylation ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity|receptor signaling protein activity p.S214F(1) biliary_tract(1)|endometrium(4)|large_intestine(7)|liver(2)|lung(11)|ovary(2)|skin(1)|urinary_tract(1) 29 Adenosine triphosphate(DB00171) CGCTCCACGTCCACTCCCAAC 0.662000 5 20 0 0 1.23904e-05 0 0 FAM3B 54097 broad.mit.edu 37 21 42720632 42720632 + Missense_Mutation SNP C C T TCGA-D3-A2JL-06A-11D-A196-08 TCGA-D3-A2JL-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 06d6341f-cb6d-4a7e-9213-c7bb394aca56 bf91785e-7b33-4bd0-8ff5-c20c20b4e985 g.chr21:42720632C>T ENST00000398652.3 + 8 782 c.716C>T c.(715-717)tCc>tTc p.S239F FAM3B_ENST00000398646.3_Missense_Mutation_p.S223F|FAM3B_ENST00000357985.2_Missense_Mutation_p.S200F|FAM3B_ENST00000479810.2_3'UTR|FAM3B_ENST00000398647.3_Missense_Mutation_p.S152F P58499 FAM3B_HUMAN family with sequence similarity 3, member B 200 apoptosis|insulin secretion extracellular space cytokine activity central_nervous_system(2)|endometrium(1)|lung(2) 5 Prostate(19;1.57e-07)|all_epithelial(19;0.0404) GAACTCCCTTCCGAAATTCAG 0.423000 25 53 0 0 0.000147802 0 0 CHGB 1114 broad.mit.edu 37 20 5903925 5903925 + Missense_Mutation SNP G G A TCGA-D3-A2JL-06A-11D-A196-08 TCGA-D3-A2JL-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 06d6341f-cb6d-4a7e-9213-c7bb394aca56 bf91785e-7b33-4bd0-8ff5-c20c20b4e985 g.chr20:5903925G>A ENST00000378961.4 + 4 1339 c.1135G>A c.(1135-1137)Gag>Aag p.E379K NM_001819.2 NP_001810.2 P05060 SCG1_HUMAN chromogranin B (secretogranin 1) 379 extracellular region hormone activity breast(7)|kidney(2)|large_intestine(8)|lung(19)|ovary(1)|pancreas(2)|skin(5)|stomach(2)|upper_aerodigestive_tract(1) 47 TCAGAGTGAGGAGAGTTGGGA 0.532000 19 59 0 0 0.000175454 0 0 NPEPL1 79716 broad.mit.edu 37 20 57269626 57269626 + Missense_Mutation SNP C C A rs139042887 by1000genomes TCGA-D3-A2JL-06A-11D-A196-08 TCGA-D3-A2JL-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 06d6341f-cb6d-4a7e-9213-c7bb394aca56 bf91785e-7b33-4bd0-8ff5-c20c20b4e985 g.chr20:57269626C>A ENST00000356091.6 + 3 773 c.485C>A c.(484-486)cCg>cAg p.P162Q NPEPL1_ENST00000525817.1_Missense_Mutation_p.P114Q|STX16-NPEPL1_ENST00000530122.1_3'UTR|NPEPL1_ENST00000525967.1_Missense_Mutation_p.P134Q NM_024663.3 NP_078939.3 Q8NDH3 PEPL1_HUMAN aminopeptidase-like 1 162 proteolysis cytoplasm aminopeptidase activity|manganese ion binding|metalloexopeptidase activity endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(7)|prostate(1) 14 all_lung(29;0.0175) BRCA - Breast invasive adenocarcinoma(13;2.88e-09)|Colorectal(105;0.109) GACAACGGGCCGGTGGAGGTG 0.652000 14 18 1.49906e-05 0.000386128 0.000219431 1 0 MS4A15 219995 broad.mit.edu 37 11 60541315 60541315 + Silent SNP G G A TCGA-D3-A2JL-06A-11D-A196-08 TCGA-D3-A2JL-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 06d6341f-cb6d-4a7e-9213-c7bb394aca56 bf91785e-7b33-4bd0-8ff5-c20c20b4e985 g.chr11:60541315G>A ENST00000405633.3 + 6 583 c.504G>A c.(502-504)gtG>gtA p.V168V MS4A15_ENST00000528170.1_Silent_p.V127V|MS4A15_ENST00000337911.4_Silent_p.V75V NM_001098835.1 NP_001092305.1 Q8N5U1 M4A15_HUMAN membrane-spanning 4-domains, subfamily A, member 15 168 integral to membrane receptor activity breast(1)|large_intestine(2)|lung(3) 6 CCCAGGATGTGGACAGGGGCT 0.567000 19 67 0 0 0.000175454 0 0 PLXND1 23129 broad.mit.edu 37 3 129293200 129293200 + Silent SNP G G A TCGA-D3-A2JL-06A-11D-A196-08 TCGA-D3-A2JL-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 06d6341f-cb6d-4a7e-9213-c7bb394aca56 bf91785e-7b33-4bd0-8ff5-c20c20b4e985 g.chr3:129293200G>A ENST00000393239.1 - 12 2842 c.2664C>T c.(2662-2664)tgC>tgT p.C888C PLXND1_ENST00000324093.4_Silent_p.C888C Q9Y4D7 PLXD1_HUMAN plexin D1 888 axon guidance integral to membrane|intracellular|plasma membrane PLXND1/TMCC1(4) NS(1)|breast(1)|endometrium(4)|kidney(5)|large_intestine(17)|lung(28)|prostate(10)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(2) 72 CGGGGGCGGGGCAGGTGCCAG 0.697000 4 8 0 0 0.00024832 0 0 ZNF704 619279 broad.mit.edu 37 8 81733664 81733664 + Missense_Mutation SNP G G A TCGA-D3-A2JL-06A-11D-A196-08 TCGA-D3-A2JL-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 06d6341f-cb6d-4a7e-9213-c7bb394aca56 bf91785e-7b33-4bd0-8ff5-c20c20b4e985 g.chr8:81733664G>A ENST00000327835.3 - 2 397 c.166C>T c.(166-168)Ctc>Ttc p.L56F NM_001033723.2 NP_001028895.1 Q6ZNC4 ZN704_HUMAN zinc finger protein 704 56 intracellular zinc ion binding lung(9)|skin(1)|upper_aerodigestive_tract(1) 11 all_cancers(3;8.53e-08)|all_epithelial(4;4.59e-10)|Breast(3;2.56e-06)|Lung NSC(7;2.58e-06)|all_lung(9;9.4e-06) BRCA - Breast invasive adenocarcinoma(6;0.00401)|Epithelial(68;0.00448)|all cancers(69;0.0277) TGCTCAAGGAGACAGATGGAG 0.453000 26 117 0 0 0.000147802 0 0 MDM1 56890 broad.mit.edu 37 12 68720383 68720383 + Silent SNP G G A TCGA-D3-A2JL-06A-11D-A196-08 TCGA-D3-A2JL-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 06d6341f-cb6d-4a7e-9213-c7bb394aca56 bf91785e-7b33-4bd0-8ff5-c20c20b4e985 g.chr12:68720383G>A ENST00000430606.2 - 3 687 c.552C>T c.(550-552)ttC>ttT p.F184F MDM1_ENST00000303145.7_Intron|MDM1_ENST00000411698.2_Intron|MDM1_ENST00000545724.1_Intron|MDM1_ENST00000540418.1_Intron|MDM1_ENST00000393543.3_3'UTR NM_001205029.1|NM_020128.2 NP_001191958.1|NP_064513.1 Q8TC05 MDM1_HUMAN Mdm1 nuclear protein homolog (mouse) 0 nucleus breast(1)|endometrium(4)|kidney(1)|large_intestine(4)|lung(10)|ovary(3)|pancreas(1)|prostate(2)|skin(7) 33 Lung(24;0.000131)|LUAD - Lung adenocarcinoma(15;0.00107)|STAD - Stomach adenocarcinoma(21;0.018) GBM - Glioblastoma multiforme(7;0.000174) AAATGACAATGAAACCAATGA 0.313000 16 49 0 0 0.000308642 0 0 TONSL 4796 broad.mit.edu 37 8 145659413 145659413 + Missense_Mutation SNP G G T TCGA-D3-A2JL-06A-11D-A196-08 TCGA-D3-A2JL-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 06d6341f-cb6d-4a7e-9213-c7bb394aca56 bf91785e-7b33-4bd0-8ff5-c20c20b4e985 g.chr8:145659413G>T ENST00000409379.3 - 21 3364 c.3335C>A c.(3334-3336)cCc>cAc p.P1112H NM_013432.4 NP_038460.4 Q96HA7 TONSL_HUMAN tonsoku-like, DNA repair protein 1112 cytoplasmic sequestering of transcription factor|double-strand break repair via homologous recombination|replication fork processing cytoplasm|nuclear replication fork histone binding|transcription corepressor activity biliary_tract(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(2)|lung(14)|ovary(3)|prostate(1)|skin(1) 26 CAGGCCTTCGGGACCCAGGTG 0.662000 10 35 6.40141e-05 0.00164185 6.40141e-05 1 0 LRRC56 115399 broad.mit.edu 37 11 554044 554044 + Missense_Mutation SNP C C T TCGA-D3-A2JL-06A-11D-A196-08 TCGA-D3-A2JL-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 06d6341f-cb6d-4a7e-9213-c7bb394aca56 bf91785e-7b33-4bd0-8ff5-c20c20b4e985 g.chr11:554044C>T ENST00000270115.7 + 14 1897 c.1397C>T c.(1396-1398)cCg>cTg p.P466L NM_198075.3 NP_932341.1 Q8IYG6 LRC56_HUMAN leucine rich repeat containing 56 466 kidney(1)|lung(4)|skin(1) 6 all_cancers(49;2.16e-06)|all_epithelial(84;0.000256)|Breast(177;0.00122)|Ovarian(85;0.0228)|Medulloblastoma(188;0.0321)|all_neural(188;0.0762) 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) AGCAGCTCCCCGCGGTGGTCG 0.677000 13 39 0 0 5.01169e-05 0 0 FBXO32 114907 broad.mit.edu 37 8 124518738 124518738 + Missense_Mutation SNP C C T TCGA-D3-A2JL-06A-11D-A196-08 TCGA-D3-A2JL-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 06d6341f-cb6d-4a7e-9213-c7bb394aca56 bf91785e-7b33-4bd0-8ff5-c20c20b4e985 g.chr8:124518738C>T ENST00000517956.1 - 7 919 c.728G>A c.(727-729)gGg>gAg p.G243E FBXO32_ENST00000443022.2_Missense_Mutation_p.G150E NM_058229.3|NM_148177.2 NP_478136.1|NP_680482.1 Q969P5 FBX32_HUMAN F-box protein 32 243 F-box. autonomic_ganglia(1)|breast(3)|endometrium(2)|large_intestine(5)|lung(6)|skin(3)|stomach(1) 21 Lung NSC(37;1.13e-13)|Ovarian(258;0.00838) STAD - Stomach adenocarcinoma(47;0.00288) CAGGTCCCGCCCGTCGCTCAG 0.602000 23 33 0 0 9.22233e-05 0 0 LRRK2 120892 broad.mit.edu 37 12 40704267 40704267 + Missense_Mutation SNP G G A TCGA-D3-A2JL-06A-11D-A196-08 TCGA-D3-A2JL-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 06d6341f-cb6d-4a7e-9213-c7bb394aca56 bf91785e-7b33-4bd0-8ff5-c20c20b4e985 g.chr12:40704267G>A ENST00000298910.7 + 31 4410 c.4352G>A c.(4351-4353)gGc>gAc p.G1451D NM_198578.3 NP_940980.3 Q5S007 LRRK2_HUMAN leucine-rich repeat kinase 2 1451 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) ATTCTCGTTGGCACACATTTG 0.488000 4 15 0 0 1.23904e-05 0 0 NCSTN 23385 broad.mit.edu 37 1 160321843 160321843 + Splice_Site SNP G G A TCGA-D3-A2JL-06A-11D-A196-08 TCGA-D3-A2JL-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 06d6341f-cb6d-4a7e-9213-c7bb394aca56 bf91785e-7b33-4bd0-8ff5-c20c20b4e985 g.chr1:160321843G>A ENST00000368063.1 + 9 1063 c.e9-1 NCSTN_ENST00000392212.4_Splice_Site|NCSTN_ENST00000294785.5_Splice_Site|NCSTN_ENST00000535857.1_Intron|NCSTN_ENST00000368065.4_Splice_Site|NCSTN_ENST00000459963.1_Splice_Site Q92542 NICA_HUMAN nicastrin amyloid precursor protein catabolic process|apoptosis|induction of apoptosis by extracellular signals|membrane protein ectodomain proteolysis|membrane protein intracellular domain proteolysis|nerve growth factor receptor signaling pathway|Notch receptor processing|Notch signaling pathway|positive regulation of catalytic activity|protein processing endoplasmic reticulum|Golgi apparatus|integral to plasma membrane|melanosome protein binding breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(16)|ovary(1)|prostate(1)|skin(2) 34 all_cancers(52;8.15e-18)|all_hematologic(112;0.093) BRCA - Breast invasive adenocarcinoma(70;0.111) GTTGTACCTAGCTGGATAGTC 0.488000 29 58 0 0 0.000339439 0 0 PRM2 5620 broad.mit.edu 37 16 11369729 11369729 + Nonsense_Mutation SNP C C T TCGA-D3-A2JL-06A-11D-A196-08 TCGA-D3-A2JL-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 06d6341f-cb6d-4a7e-9213-c7bb394aca56 bf91785e-7b33-4bd0-8ff5-c20c20b4e985 g.chr16:11369729C>T ENST00000435245.2 - 2 490 c.381G>A c.(379-381)tgG>tgA p.W127* PRM2_ENST00000241808.4_3'UTR|RMI2_ENST00000572173.1_Intron P04554 PRM2_HUMAN protamine 2 0 chromosome condensation|multicellular organismal development nucleoplasm|nucleosome DNA binding p.0?(1) central_nervous_system(1)|endometrium(2)|large_intestine(2)|lung(2) 7 TTCTTAATTTCCAGCTGGGGG 0.512000 11 75 0 0 6.40141e-05 0 0 SYCP1 6847 broad.mit.edu 37 1 115401176 115401176 + Silent SNP G G A TCGA-D3-A2JL-06A-11D-A196-08 TCGA-D3-A2JL-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 06d6341f-cb6d-4a7e-9213-c7bb394aca56 bf91785e-7b33-4bd0-8ff5-c20c20b4e985 g.chr1:115401176G>A ENST00000369522.3 + 6 540 c.300G>A c.(298-300)gaG>gaA p.E100E SYCP1_ENST00000369518.1_Silent_p.E100E NM_003176.2 NP_003167.2 Q15431 SYCP1_HUMAN synaptonemal complex protein 1 100 Asp/Glu-rich (acidic). cell division|reciprocal meiotic recombination|spermatogenesis|synaptonemal complex assembly DNA binding RGS22/SYCP1(2) NS(1)|breast(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(17)|lung(20)|prostate(1)|skin(2)|upper_aerodigestive_tract(1) 48 Lung SC(450;0.211) all_cancers(81;8.65e-08)|all_epithelial(167;3.32e-07)|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)|all cancers(265;0.112)|Epithelial(280;0.124)|LUSC - Lung squamous cell carcinoma(189;0.133) AGAATTCAGAGGGATTGAGCA 0.299000 8 108 0 0 3.86212e-05 0 0 GSG1 83445 broad.mit.edu 37 12 13240172 13240172 + Missense_Mutation SNP C C T TCGA-D3-A2JL-06A-11D-A196-08 TCGA-D3-A2JL-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 06d6341f-cb6d-4a7e-9213-c7bb394aca56 bf91785e-7b33-4bd0-8ff5-c20c20b4e985 g.chr12:13240172C>T ENST00000337630.6 - 5 619 c.552G>A c.(550-552)atG>atA p.M184I GSG1_ENST00000396302.3_Missense_Mutation_p.D226N|GSG1_ENST00000457134.2_Missense_Mutation_p.M133I|GSG1_ENST00000351606.6_Missense_Mutation_p.D262N|GSG1_ENST00000537302.1_Missense_Mutation_p.M156I|GSG1_ENST00000324458.8_Missense_Mutation_p.M220I|GSG1_ENST00000432710.2_Missense_Mutation_p.M197I|GSG1_ENST00000396310.2_Missense_Mutation_p.M153I NM_153823.3 NP_722545.2 Q2KHT4 GSG1_HUMAN germ cell associated 1 207 endoplasmic reticulum membrane|integral to membrane endometrium(1)|large_intestine(3)|lung(4)|skin(1)|urinary_tract(1) 10 Prostate(47;0.183) BRCA - Breast invasive adenocarcinoma(232;0.15) GTGAATACATCATGTGGGCCA 0.498000 5 37 0 0 3.59834e-05 0 0 SUCO 51430 broad.mit.edu 37 1 172571886 172571886 + Missense_Mutation SNP C C A TCGA-D3-A2JL-06A-11D-A196-08 TCGA-D3-A2JL-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 06d6341f-cb6d-4a7e-9213-c7bb394aca56 bf91785e-7b33-4bd0-8ff5-c20c20b4e985 g.chr1:172571886C>A ENST00000367723.3 + 21 3804 c.3680C>A c.(3679-3681)cCa>cAa p.P1227Q SUCO_ENST00000263688.3_Missense_Mutation_p.P1075Q|SUCO_ENST00000486569.1_3'UTR NM_016227.2 NP_057311.2 SUN domain containing ossification factor ACTTCATTCCCACTCATGAGA 0.323000 9 286 0.00010058 0.0025633 0.00010058 1 0 PTPRS 5802 broad.mit.edu 37 19 5212148 5212148 + Missense_Mutation SNP C C T TCGA-D3-A2JL-06A-11D-A196-08 TCGA-D3-A2JL-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 06d6341f-cb6d-4a7e-9213-c7bb394aca56 bf91785e-7b33-4bd0-8ff5-c20c20b4e985 g.chr19:5212148C>T ENST00000372412.4 - 32 5119 c.4886G>A c.(4885-4887)cGc>cAc p.R1629H PTPRS_ENST00000353284.2_Missense_Mutation_p.R1181H|PTPRS_ENST00000587303.1_Missense_Mutation_p.R1628H|PTPRS_ENST00000588012.1_Missense_Mutation_p.R1590H|PTPRS_ENST00000588552.1_5'UTR|PTPRS_ENST00000592099.1_Missense_Mutation_p.R1181H|PTPRS_ENST00000262963.6_Missense_Mutation_p.R1608H|PTPRS_ENST00000357368.4_Missense_Mutation_p.R1628H|PTPRS_ENST00000348075.2_Missense_Mutation_p.R1590H Q13332 PTPRS_HUMAN protein tyrosine phosphatase, receptor type, S 1628 Tyrosine-protein phosphatase 1. cell adhesion integral to plasma membrane protein binding|transmembrane receptor protein tyrosine phosphatase activity NS(1)|biliary_tract(1)|central_nervous_system(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(12)|liver(1)|lung(9)|ovary(4)|prostate(1)|skin(12)|stomach(2)|upper_aerodigestive_tract(1) 61 UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.0321)|Lung(535;0.182) CATGTAGTTGCGCTGGGACCT 0.602000 15 67 0 0 0.000308642 0 0 NCR2 9436 broad.mit.edu 37 6 41304028 41304028 + Missense_Mutation SNP G G A TCGA-D3-A2JL-06A-11D-A196-08 TCGA-D3-A2JL-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 06d6341f-cb6d-4a7e-9213-c7bb394aca56 bf91785e-7b33-4bd0-8ff5-c20c20b4e985 g.chr6:41304028G>A ENST00000373083.4 + 2 478 c.256G>A c.(256-258)Gac>Aac p.D86N NCR2_ENST00000373089.5_Missense_Mutation_p.D86N|NCR2_ENST00000373086.3_Missense_Mutation_p.D86N NM_001199510.1 NP_001186439.1 O95944 NCTR2_HUMAN natural cytotoxicity triggering receptor 2 86 Ig-like. cellular defense response integral to plasma membrane transmembrane receptor activity NS(1)|breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(3)|ovary(1)|urinary_tract(1) 14 Ovarian(28;0.0327)|Colorectal(47;0.196) AATCTGGGACGACCCTGATGC 0.522000 22 40 0 0 0.000295444 0 0 METRNL 284207 broad.mit.edu 37 17 81052056 81052056 + Silent SNP C C T TCGA-D3-A2JL-06A-11D-A196-08 TCGA-D3-A2JL-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 06d6341f-cb6d-4a7e-9213-c7bb394aca56 bf91785e-7b33-4bd0-8ff5-c20c20b4e985 g.chr17:81052056C>T ENST00000571814.1 + 3 1367 c.426C>T c.(424-426)gcC>gcT p.A142A METRNL_ENST00000570778.1_Silent_p.A142A|METRNL_ENST00000320095.7_Silent_p.A224A|METRNL_ENST00000571940.1_3'UTR Q641Q3 METRL_HUMAN meteorin, glial cell differentiation regulator-like 224 extracellular region endometrium(1)|kidney(1)|large_intestine(1)|lung(3)|skin(1)|upper_aerodigestive_tract(1) 8 Breast(20;0.000443)|all_neural(118;0.0779) BRCA - Breast invasive adenocarcinoma(99;0.0517)|OV - Ovarian serous cystadenocarcinoma(97;0.0868) AGGACTCAGCCATCCACCTGC 0.652000 82 73 0 0 0.000147903 0 0 SPAM1 6677 broad.mit.edu 37 7 123594288 123594288 + Missense_Mutation SNP C C T TCGA-D3-A2JL-06A-11D-A196-08 TCGA-D3-A2JL-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 06d6341f-cb6d-4a7e-9213-c7bb394aca56 bf91785e-7b33-4bd0-8ff5-c20c20b4e985 g.chr7:123594288C>T ENST00000340011.5 + 3 1021 c.664C>T c.(664-666)Ccg>Tcg p.P222S SPAM1_ENST00000223028.7_Missense_Mutation_p.P222S|SPAM1_ENST00000460182.1_Missense_Mutation_p.P222S|SPAM1_ENST00000402183.2_Missense_Mutation_p.P222S|SPAM1_ENST00000439500.1_Missense_Mutation_p.P222S NM_003117.4 NP_003108.2 P38567 HYALP_HUMAN sperm adhesion molecule 1 (PH-20 hyaluronidase, zona pellucida binding) 222 binding of sperm to zona pellucida|carbohydrate metabolic process|cell adhesion|fusion of sperm to egg plasma membrane anchored to membrane|plasma membrane hyalurononglucosaminidase activity breast(1)|cervix(1)|endometrium(3)|kidney(5)|large_intestine(5)|lung(23)|ovary(3)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1) 46 Hyaluronidase(DB00070) TTATCTTTTTCCGGATTGTTA 0.363000 6 15 0 0 8.12818e-05 0 0 GLI2 2736 broad.mit.edu 37 2 121554883 121554883 + Translation_Start_Site SNP G G A TCGA-D3-A2JL-06A-11D-A196-08 TCGA-D3-A2JL-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 06d6341f-cb6d-4a7e-9213-c7bb394aca56 bf91785e-7b33-4bd0-8ff5-c20c20b4e985 g.chr2:121554883G>A ENST00000452319.1 + 0 47 GLI2_ENST00000314490.11_De_novo_Start_OutOfFrame|GLI2_ENST00000435313.2_3'UTR|GLI2_ENST00000361492.4_De_novo_Start_OutOfFrame P10070 GLI2_HUMAN GLI family zinc finger 2 axon guidance|branching morphogenesis of a tube|cell proliferation|cerebellar cortex morphogenesis|developmental growth|embryonic digestive tract development|epidermal cell differentiation|floor plate formation|heart development|hindgut morphogenesis|kidney development|lung development|negative regulation of transcription from RNA polymerase II promoter|odontogenesis of dentine-containing tooth|osteoblast development|osteoblast differentiation|pituitary gland development|positive regulation of DNA replication|positive regulation of T cell differentiation in thymus|positive regulation of transcription from RNA polymerase II promoter|proximal/distal pattern formation|skeletal system development|smoothened signaling pathway involved in ventral spinal cord interneuron specification|spinal cord ventral commissure morphogenesis nucleus protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding NS(1)|breast(3)|central_nervous_system(4)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(7)|lung(24)|ovary(8)|pancreas(1)|prostate(2)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1) 64 Renal(3;0.0496) Prostate(154;0.0623) CACCCAGGACGATGAGCGGCT 0.607000 91 257 0 0 0.000147903 0 0 NCR3 259197 broad.mit.edu 37 6 31557860 31557860 + Silent SNP G G A TCGA-D3-A2JL-06A-11D-A196-08 TCGA-D3-A2JL-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 06d6341f-cb6d-4a7e-9213-c7bb394aca56 bf91785e-7b33-4bd0-8ff5-c20c20b4e985 g.chr6:31557860G>A ENST00000376073.4 - 2 350 c.87C>T c.(85-87)acC>acT p.T29T NCR3_ENST00000491161.1_5'UTR|NCR3_ENST00000340027.5_Silent_p.T29T|NCR3_ENST00000376071.4_Silent_p.T29T|NCR3_ENST00000376072.3_Silent_p.T29T NM_001145466.1 NP_001138938.1 O14931 NCTR3_HUMAN natural cytotoxicity triggering receptor 3 29 Ig-like. cell recognition|immune response|inflammatory response|positive regulation of natural killer cell mediated cytotoxicity integral to plasma membrane receptor activity cervix(1)|large_intestine(2)|liver(1)|lung(2)|ovary(1)|skin(2) 9 ATCCTTCCAGGGTACGAATCT 0.577000 28 72 0 0 0.000279167 0 0 F8 2157 broad.mit.edu 37 X 154124378 154124378 + Nonsense_Mutation SNP G G A rs137852356 TCGA-D3-A2JL-06A-11D-A196-08 TCGA-D3-A2JL-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 06d6341f-cb6d-4a7e-9213-c7bb394aca56 bf91785e-7b33-4bd0-8ff5-c20c20b4e985 g.chrX:154124378G>A ENST00000360256.4 - 22 6603 c.6403C>T c.(6403-6405)Cga>Tga p.R2135* NM_000132.3 NP_000123.1 P00451 FA8_HUMAN coagulation factor VIII, procoagulant component 2135 F5/8 type C 1. R -> P (in HEMA; severe). acute-phase response|blood coagulation, intrinsic pathway|cell adhesion|platelet activation|platelet degranulation extracellular space|plasma membrane|platelet alpha granule lumen copper ion binding|oxidoreductase activity|protein binding NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(3)|kidney(6)|large_intestine(27)|liver(1)|lung(47)|ovary(5)|pancreas(3)|prostate(1)|skin(5)|upper_aerodigestive_tract(5)|urinary_tract(2) 120 all_cancers(53;7.19e-17)|all_epithelial(53;9.83e-11)|all_lung(58;6.63e-07)|Lung NSC(58;2.08e-06)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176)|Renal(33;0.214) Antihemophilic Factor(DB00025)|Coagulation Factor IX(DB00100)|Drotrecogin alfa(DB00055) GAATTTCCTCGATAAGTCTGC 0.408000 27 107 0 0 0.000227799 0 0 ACAA1 30 broad.mit.edu 37 3 38167171 38167171 + Missense_Mutation SNP G G A TCGA-D3-A2JL-06A-11D-A196-08 TCGA-D3-A2JL-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 06d6341f-cb6d-4a7e-9213-c7bb394aca56 bf91785e-7b33-4bd0-8ff5-c20c20b4e985 g.chr3:38167171G>A ENST00000333167.8 - 11 1256 c.1084C>T c.(1084-1086)Ccc>Tcc p.P362S ACAA1_ENST00000480865.1_5'UTR|ACAA1_ENST00000301810.7_Missense_Mutation_p.P269S|ACAA1_ENST00000450296.1_Missense_Mutation_p.P321S NM_001607.3 NP_001598.1 P09110 THIK_HUMAN acetyl-CoA acyltransferase 1 362 fatty acid beta-oxidation using acyl-CoA oxidase|generation of precursor metabolites and energy peroxisomal matrix acetyl-CoA C-acyltransferase activity|protein binding endometrium(1)|large_intestine(4)|lung(2)|ovary(1)|prostate(1) 9 KIRC - Kidney renal clear cell carcinoma(284;0.0523)|Kidney(284;0.0657) TTCTCAGGGGGGAGTCGTAGC 0.622000 10 22 0 0 2.17888e-05 0 0 GSTP1 2950 broad.mit.edu 37 11 67353993 67353993 + Missense_Mutation SNP T T C TCGA-D3-A2JL-06A-11D-A196-08 TCGA-D3-A2JL-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 06d6341f-cb6d-4a7e-9213-c7bb394aca56 bf91785e-7b33-4bd0-8ff5-c20c20b4e985 g.chr11:67353993T>C ENST00000398606.3 + 7 827 c.578T>C c.(577-579)tTc>tCc p.F193S GSTP1_ENST00000398603.1_Missense_Mutation_p.F157S|GSTP1_ENST00000498765.1_3'UTR NM_000852.3 NP_000843.1 P09211 GSTP1_HUMAN glutathione S-transferase pi 1 193 GST C-terminal. anti-apoptosis|cellular response to lipopolysaccharide|central nervous system development|common myeloid progenitor cell proliferation|glutathione metabolic process|negative regulation of acute inflammatory response|negative regulation of ERK1 and ERK2 cascade|negative regulation of fibroblast proliferation|negative regulation of I-kappaB kinase/NF-kappaB cascade|negative regulation of interleukin-1 beta production|negative regulation of JUN kinase activity|negative regulation of leukocyte proliferation|negative regulation of monocyte chemotactic protein-1 production|negative regulation of necrotic cell death|negative regulation of nitric-oxide synthase 2 biosynthetic process|negative regulation of stress-activated MAPK cascade|negative regulation of tumor necrosis factor production|nitric oxide storage|positive regulation of superoxide anion generation|response to reactive oxygen species|xenobiotic metabolic process cytosol|protein complex dinitrosyl-iron complex binding|glutathione transferase activity|JUN kinase binding|kinase regulator activity|nitric oxide binding|S-nitrosoglutathione binding central_nervous_system(1)|cervix(1)|endometrium(4)|lung(2)|ovary(1) 9 Ethacrynic acid(DB00903)|Glutathione(DB00143) CTCAAGGCCTTCCTGGCCTCC 0.622000 13 21 0 0 0.000219431 0 0 FLG 2312 broad.mit.edu 37 1 152279024 152279024 + Nonsense_Mutation SNP G G A TCGA-D3-A2JL-06A-11D-A196-08 TCGA-D3-A2JL-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 06d6341f-cb6d-4a7e-9213-c7bb394aca56 bf91785e-7b33-4bd0-8ff5-c20c20b4e985 g.chr1:152279024G>A ENST00000368799.1 - 3 8373 c.8338C>T c.(8338-8340)Caa>Taa p.Q2780* FLG-AS1_ENST00000593011.1_RNA|FLG-AS1_ENST00000420707.1_RNA NM_002016.1 NP_002007.1 P20930 FILA_HUMAN filaggrin 2780 Ser-rich. keratinocyte differentiation cytoplasmic membrane-bounded vesicle|intermediate filament calcium ion binding|structural molecule activity autonomic_ganglia(1)|breast(13)|central_nervous_system(5)|cervix(2)|endometrium(38)|haematopoietic_and_lymphoid_tissue(1)|kidney(16)|large_intestine(57)|lung(211)|ovary(13)|pancreas(1)|prostate(15)|skin(24)|stomach(5)|upper_aerodigestive_tract(10)|urinary_tract(12) 424 Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127) LUSC - Lung squamous cell carcinoma(543;0.206) TGACCGTCTTGGGATGCTGAG 0.597000 Ichthyosis 94 518 0 0 0.000147903 0 0 ARMC6 93436 broad.mit.edu 37 19 19162883 19162883 + Nonsense_Mutation SNP G G A TCGA-D3-A2JL-06A-11D-A196-08 TCGA-D3-A2JL-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 06d6341f-cb6d-4a7e-9213-c7bb394aca56 bf91785e-7b33-4bd0-8ff5-c20c20b4e985 g.chr19:19162883G>A ENST00000535612.1 + 5 1164 c.732G>A c.(730-732)tgG>tgA p.W244* ARMC6_ENST00000546344.1_Nonsense_Mutation_p.W151*|ARMC6_ENST00000392335.2_Nonsense_Mutation_p.W219*|ARMC6_ENST00000392336.3_Nonsense_Mutation_p.W244*|ARMC6_ENST00000269932.6_Nonsense_Mutation_p.W219* NM_001199196.1 NP_001186125.1 Q6NXE6 ARMC6_HUMAN armadillo repeat containing 6 244 protein binding NS(1)|endometrium(2)|kidney(1)|large_intestine(1)|liver(2)|lung(5)|ovary(1)|prostate(1) 14 OV - Ovarian serous cystadenocarcinoma(5;5.66e-06)|Epithelial(12;0.000391) AAGCCTGCTGGGCCCTGCGTG 0.577000 6 37 0 0 3.59834e-05 0 0 KCNH5 27133 broad.mit.edu 37 14 63473091 63473091 + Silent SNP C C T TCGA-D3-A2JL-06A-11D-A196-08 TCGA-D3-A2JL-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 06d6341f-cb6d-4a7e-9213-c7bb394aca56 bf91785e-7b33-4bd0-8ff5-c20c20b4e985 g.chr14:63473091C>T ENST00000322893.7 - 3 565 c.297G>A c.(295-297)aaG>aaA p.K99K KCNH5_ENST00000420622.2_Silent_p.K99K|KCNH5_ENST00000394968.1_Silent_p.K41K|KCNH5_ENST00000394964.2_Silent_p.K41K NM_139318.3 NP_647479.2 Q8NCM2 KCNH5_HUMAN potassium voltage-gated channel, subfamily H (eag-related), member 5 99 PAC. regulation of transcription, DNA-dependent integral to membrane calmodulin binding|two-component sensor activity|voltage-gated potassium channel activity p.K99N(1) NS(1)|biliary_tract(1)|breast(3)|central_nervous_system(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(22)|lung(33)|ovary(5)|prostate(2)|skin(17)|upper_aerodigestive_tract(4)|urinary_tract(2) 99 OV - Ovarian serous cystadenocarcinoma(108;0.00958)|BRCA - Breast invasive adenocarcinoma(234;0.168) TACTGTTTTTCTTGTACAGAA 0.338000 5 13 0 0 8.12818e-05 0 0 ZFP42 132625 broad.mit.edu 37 4 188924832 188924832 + Missense_Mutation SNP A A G TCGA-D3-A2JL-06A-11D-A196-08 TCGA-D3-A2JL-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 06d6341f-cb6d-4a7e-9213-c7bb394aca56 bf91785e-7b33-4bd0-8ff5-c20c20b4e985 g.chr4:188924832A>G ENST00000326866.4 + 4 1279 c.871A>G c.(871-873)Aac>Gac p.N291D ZFP42_ENST00000509524.1_Missense_Mutation_p.N291D NM_174900.3 NP_777560.2 Q96MM3 ZFP42_HUMAN ZFP42 zinc finger protein 291 female gonad development|male gonad development|meiosis cytoplasm|nucleus DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding breast(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(15)|ovary(1)|skin(2)|stomach(1) 27 all_cancers(14;6.2e-52)|all_epithelial(14;7.36e-37)|all_lung(41;2.29e-15)|Lung NSC(41;6.7e-15)|Breast(6;1.53e-05)|Melanoma(20;3.01e-05)|Hepatocellular(41;0.00335)|all_hematologic(60;0.014)|Renal(120;0.0183)|Prostate(90;0.0421)|Colorectal(36;0.227) OV - Ovarian serous cystadenocarcinoma(60;1.54e-11)|BRCA - Breast invasive adenocarcinoma(30;4.21e-06)|GBM - Glioblastoma multiforme(59;8.93e-05)|STAD - Stomach adenocarcinoma(60;0.000279)|LUSC - Lung squamous cell carcinoma(40;0.00902)|READ - Rectum adenocarcinoma(43;0.157) TCAGTCAAATAACCTGAAAGC 0.458000 31 80 0 0 0.000191422 0 0 COL4A1 1282 broad.mit.edu 37 13 110838777 110838777 + Missense_Mutation SNP C C T TCGA-D3-A2JL-06A-11D-A196-08 TCGA-D3-A2JL-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 06d6341f-cb6d-4a7e-9213-c7bb394aca56 bf91785e-7b33-4bd0-8ff5-c20c20b4e985 g.chr13:110838777C>T ENST00000375820.4 - 26 1973 c.1852G>A c.(1852-1854)Gga>Aga p.G618R NM_001845.4 NP_001836.2 P02462 CO4A1_HUMAN collagen, type IV, alpha 1 618 Triple-helical region. angiogenesis|axon guidance extracellular matrix structural constituent|platelet-derived growth factor binding breast(2)|central_nervous_system(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(16)|lung(57)|ovary(4)|pancreas(1)|prostate(4)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 105 all_cancers(4;9.8e-13)|all_epithelial(4;9.66e-08)|all_lung(23;3.75e-06)|Lung NSC(43;0.000274)|Colorectal(4;0.00178)|all_neural(89;0.00459)|Medulloblastoma(90;0.00596)|Lung SC(71;0.0604) Breast(118;0.2) BRCA - Breast invasive adenocarcinoma(86;0.11)|all cancers(43;0.145) CCTGCTTGTCCTTTGTCACCA 0.617000 19 90 0 0 7.07596e-05 0 0 UPK3B 80761 broad.mit.edu 37 7 76144448 76144448 + Missense_Mutation SNP C C T TCGA-D3-A2JL-06A-11D-A196-08 TCGA-D3-A2JL-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 06d6341f-cb6d-4a7e-9213-c7bb394aca56 bf91785e-7b33-4bd0-8ff5-c20c20b4e985 g.chr7:76144448C>T ENST00000443097.2 + 6 983 c.758C>T c.(757-759)cCa>cTa p.P253L UPK3B_ENST00000394849.1_Silent_p.P226P|UPK3B_ENST00000257632.5_Silent_p.P281P|UPK3B_ENST00000448265.3_Silent_p.P281P|UPK3B_ENST00000419923.2_Silent_p.P281P|UPK3B_ENST00000334348.3_Missense_Mutation_p.P253L Q9BT76 UPK3B_HUMAN uroplakin 3B 0 negative regulation of gene expression integral to membrane|plasma membrane breast(1)|central_nervous_system(2)|kidney(1)|large_intestine(1)|lung(1)|skin(2) 8 Myeloproliferative disorder(862;0.204) CACCACATCCCACCCAGAGAG 0.706000 6 6 0 0 8.12818e-05 0 0 HRH1 3269 broad.mit.edu 37 3 11301470 11301470 + Silent SNP G G A TCGA-D3-A2JL-06A-11D-A196-08 TCGA-D3-A2JL-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 06d6341f-cb6d-4a7e-9213-c7bb394aca56 bf91785e-7b33-4bd0-8ff5-c20c20b4e985 g.chr3:11301470G>A ENST00000397056.1 + 3 938 c.747G>A c.(745-747)aaG>aaA p.K249K HRH1_ENST00000431010.2_Silent_p.K249K|HRH1_ENST00000438284.2_Silent_p.K249K NM_000861.3|NM_001098211.1 NP_000852.1|NP_001091681.1 P35367 HRH1_HUMAN histamine receptor H1 249 activation of phospholipase C activity by G-protein coupled receptor protein signaling pathway coupled to IP3 second messenger|inflammatory response cytoplasm|integral to plasma membrane|nucleus histamine receptor activity autonomic_ganglia(1)|central_nervous_system(1)|endometrium(4)|large_intestine(3)|lung(11)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2) 25 Aceprometazine(DB01615)|Astemizole(DB00637)|Azatadine(DB00719)|Azelastine(DB00972)|Benzquinamide(DB00767)|Bepotastine(DB04890)|Bromodiphenhydramine(DB01237)|Brompheniramine(DB00835)|Buclizine(DB00354)|Carbinoxamine(DB00748)|Cetirizine(DB00341)|Chlophedianol(DB04837)|Chlorpheniramine(DB01114)|Chlorprothixene(DB01239)|Cinnarizine(DB00568)|Clemastine(DB00283)|Clozapine(DB00363)|Cyclizine(DB01176)|Cyproheptadine(DB00434)|Desipramine(DB01151)|Desloratadine(DB00967)|Dexbrompheniramine(DB00405)|Dimenhydrinate(DB00985)|Diphenhydramine(DB01075)|Diphenylpyraline(DB01146)|Doxepin(DB01142)|Doxylamine(DB00366)|Emedastine(DB01084)|Epinastine(DB00751)|Fexofenadine(DB00950)|Flunarizine(DB04841)|Histamine Phosphate(DB00667)|Hydroxyzine(DB00557)|Ketotifen(DB00920)|Levocabastine(DB01106)|Loratadine(DB00455)|Maprotiline(DB00934)|Meclizine(DB00737)|Mequitazine(DB01071)|Methdilazine(DB00902)|Methotrimeprazine(DB01403)|Mianserin(DB06148)|Mirtazapine(DB00370)|Nedocromil(DB00716)|Olanzapine(DB00334)|Olopatadine(DB00768)|Orphenadrine(DB01173)|Pemirolast(DB00885)|Phenindamine(DB01619)|Pheniramine(DB01620)|Prochlorperazine(DB00433)|Promazine(DB00420)|Promethazine(DB01069)|Propiomazine(DB00777)|Quetiapine(DB01224)|Risperidone(DB00734)|Terfenadine(DB00342)|Thiethylperazine(DB00372)|Trazodone(DB00656)|Trimeprazine(DB01246)|Tripelennamine(DB00792)|Triprolidine(DB00427)|Ziprasidone(DB00246) GGGATGCCAAGAAACCAGGGA 0.542000 7 21 0 0 0.000157383 0 0 SIGLEC10 89790 broad.mit.edu 37 19 51920407 51920407 + Missense_Mutation SNP A A G TCGA-D3-A2JL-06A-11D-A196-08 TCGA-D3-A2JL-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 06d6341f-cb6d-4a7e-9213-c7bb394aca56 bf91785e-7b33-4bd0-8ff5-c20c20b4e985 g.chr19:51920407A>G ENST00000353836.5 - 2 571 c.350T>C c.(349-351)tTc>tCc p.F117S SIGLEC10_ENST00000339313.5_Missense_Mutation_p.F117S|SIGLEC10_ENST00000525998.1_Missense_Mutation_p.F117S|SIGLEC10_ENST00000436984.2_Missense_Mutation_p.F117S|SIGLEC10_ENST00000439889.2_Missense_Mutation_p.F117S|SIGLEC10_ENST00000441969.3_Missense_Mutation_p.F117S|SIGLEC10_ENST00000432469.2_Missense_Mutation_p.F117S|CTD-2616J11.2_ENST00000532688.1_RNA|SIGLEC10_ENST00000356298.5_Missense_Mutation_p.F117S|SIGLEC10_ENST00000442846.3_Missense_Mutation_p.F117S NM_001171157.1|NM_001171158.1|NM_001171159.1 NP_001164628.1|NP_001164629.1|NP_001164630.1 Q96LC7 SIG10_HUMAN sialic acid binding Ig-like lectin 10 117 Ig-like V-type. cell adhesion extracellular region|integral to membrane|plasma membrane sugar binding breast(1)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(1)|large_intestine(10)|lung(27)|ovary(1)|prostate(1)|skin(5)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 58 all_neural(266;0.0199) GBM - Glioblastoma multiforme(134;0.000668)|OV - Ovarian serous cystadenocarcinoma(262;0.0101) CACCCGAAAGAAGTACTGTGA 0.527000 25 52 0 0 5.49717e-05 0 0 SEPT9 10801 broad.mit.edu 37 17 75398449 75398449 + Missense_Mutation SNP C C T TCGA-D3-A2JL-06A-11D-A196-08 TCGA-D3-A2JL-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 06d6341f-cb6d-4a7e-9213-c7bb394aca56 bf91785e-7b33-4bd0-8ff5-c20c20b4e985 g.chr17:75398449C>T ENST00000329047.8 + 2 1143 c.331C>T c.(331-333)Cgg>Tgg p.R111W SEPT9_ENST00000592420.1_5'UTR|SEPT9_ENST00000588690.1_5'UTR|SEPT9_ENST00000591198.1_Missense_Mutation_p.R110W|SEPT9_ENST00000449803.2_5'UTR|SEPT9_ENST00000427674.2_5'UTR|SEPT9_ENST00000590294.1_Missense_Mutation_p.R111W|SEPT9_ENST00000423034.2_Missense_Mutation_p.R122W|SEPT9_ENST00000431235.2_5'UTR|SEPT9_ENST00000427177.1_Missense_Mutation_p.R129W NM_006640.4 NP_006631.2 Q9UHD8 SEPT9_HUMAN septin 9 129 S -> F (in HNA). cell cycle|cell division|protein heterooligomerization microtubule|perinuclear region of cytoplasm|stress fiber GTP binding|GTPase activity|protein binding autonomic_ganglia(1)|breast(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(2)|ovary(1)|pancreas(1)|prostate(2) 16 BRCA - Breast invasive adenocarcinoma(99;0.153) CGGCCCGTCCCGGTTCGGGCT 0.682000 26 15 0 0 0.000227799 0 0 PSG5 5673 broad.mit.edu 37 19 43680036 43680036 + Missense_Mutation SNP G G A TCGA-D3-A2JL-06A-11D-A196-08 TCGA-D3-A2JL-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 06d6341f-cb6d-4a7e-9213-c7bb394aca56 bf91785e-7b33-4bd0-8ff5-c20c20b4e985 g.chr19:43680036G>A ENST00000404580.1 - 3 783 c.695C>T c.(694-696)aCc>aTc p.T232I PSG5_ENST00000407356.1_Missense_Mutation_p.T232I|PSG5_ENST00000366175.3_Missense_Mutation_p.T232I|PSG5_ENST00000407568.1_Intron|PSG5_ENST00000599812.1_Missense_Mutation_p.T325I|PSG5_ENST00000342951.6_Missense_Mutation_p.T232I Q15238 PSG5_HUMAN pregnancy specific beta-1-glycoprotein 5 232 Ig-like C2-type 1. T -> S (in Ref. 2; AAA60205 and 3; AAA36514). female pregnancy extracellular region breast(1)|endometrium(2)|kidney(2)|large_intestine(1)|lung(18)|prostate(1)|skin(6)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 35 Prostate(69;0.00899) GACATTCAGGGTGACTGGGTC 0.498000 11 30 0 0 3.86212e-05 0 0 PLEC 5339 broad.mit.edu 37 8 144995805 144995805 + Silent SNP G G A TCGA-D3-A2JL-06A-11D-A196-08 TCGA-D3-A2JL-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 06d6341f-cb6d-4a7e-9213-c7bb394aca56 bf91785e-7b33-4bd0-8ff5-c20c20b4e985 g.chr8:144995805G>A ENST00000322810.4 - 32 8764 c.8595C>T c.(8593-8595)atC>atT p.I2865I PLEC_ENST00000356346.3_Silent_p.I2714I|PLEC_ENST00000357649.2_Silent_p.I2732I|PLEC_ENST00000398774.2_Silent_p.I2696I|PLEC_ENST00000436759.2_Silent_p.I2755I|PLEC_ENST00000354958.2_Silent_p.I2706I|PLEC_ENST00000345136.3_Silent_p.I2728I|PLEC_ENST00000527096.1_Silent_p.I2751I|PLEC_ENST00000354589.3_Silent_p.I2728I NM_201380.2 NP_958782.1 Q15149 PLEC_HUMAN plectin 2865 Globular 2. cellular component disassembly involved in apoptosis|hemidesmosome assembly cytosol|focal adhesion|hemidesmosome|intermediate filament cytoskeleton|sarcolemma actin binding|structural constituent of muscle NS(1)|breast(3)|central_nervous_system(4)|cervix(7)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(8)|lung(57)|ovary(4)|pancreas(2)|prostate(11)|skin(9)|stomach(2)|upper_aerodigestive_tract(10) 137 CCTCCAGCAGGATGAGGGCCG 0.667000 14 37 0 0 0.000308642 0 0 MIR329-2 574409 broad.mit.edu 37 14 101493486 101493486 + RNA SNP G G A TCGA-D3-A2JL-06A-11D-A196-08 TCGA-D3-A2JL-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 06d6341f-cb6d-4a7e-9213-c7bb394aca56 bf91785e-7b33-4bd0-8ff5-c20c20b4e985 g.chr14:101493486G>A ENST00000385029.1 + 0 50 NR_029968.1 TATTGAGGACGAAACACACCT 0.458000 85 117 0 0 0.000147903 0 0 FAAH2 158584 broad.mit.edu 37 X 57475082 57475082 + Missense_Mutation SNP C C T TCGA-D3-A2JL-06A-11D-A196-08 TCGA-D3-A2JL-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 06d6341f-cb6d-4a7e-9213-c7bb394aca56 bf91785e-7b33-4bd0-8ff5-c20c20b4e985 g.chrX:57475082C>T ENST00000374900.4 + 10 1474 c.1354C>T c.(1354-1356)Ccc>Tcc p.P452S FAAH2_ENST00000491179.1_Intron NM_174912.3 NP_777572.2 Q6GMR7 FAAH2_HUMAN fatty acid amide hydrolase 2 452 integral to membrane carbon-nitrogen ligase activity, with glutamine as amido-N-donor|hydrolase activity endometrium(2)|large_intestine(4)|lung(10)|ovary(3)|upper_aerodigestive_tract(3) 22 GTTCTTATATCCCTCACATCC 0.423000 HNSCC(52;0.14) 4 17 0 0 0.00024832 0 0 OR10J3 441911 broad.mit.edu 37 1 159283990 159283990 + Missense_Mutation SNP G G A TCGA-D3-A2JL-06A-11D-A196-08 TCGA-D3-A2JL-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 06d6341f-cb6d-4a7e-9213-c7bb394aca56 bf91785e-7b33-4bd0-8ff5-c20c20b4e985 g.chr1:159283990G>A ENST00000332217.5 - 1 459 c.460C>T c.(460-462)Ctt>Ttt p.L154F NM_001004467.1 NP_001004467.1 Q5JRS4 O10J3_HUMAN olfactory receptor, family 10, subfamily J, member 3 154 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity breast(2)|endometrium(7)|kidney(4)|large_intestine(7)|lung(19)|ovary(3)|prostate(2)|skin(2)|upper_aerodigestive_tract(1) 47 all_hematologic(112;0.0429) GCCATGCCAAGGCCAATCCCC 0.507000 4 2 0 0 1.23904e-05 0 0 ZZEF1 23140 broad.mit.edu 37 17 3954306 3954306 + Missense_Mutation SNP G G A TCGA-D3-A2JL-06A-11D-A196-08 TCGA-D3-A2JL-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 06d6341f-cb6d-4a7e-9213-c7bb394aca56 bf91785e-7b33-4bd0-8ff5-c20c20b4e985 g.chr17:3954306G>A ENST00000381638.2 - 36 5756 c.5632C>T c.(5632-5634)Cca>Tca p.P1878S NM_015113.3 NP_055928.3 O43149 ZZEF1_HUMAN zinc finger, ZZ-type with EF-hand domain 1 1878 calcium ion binding|zinc ion binding central_nervous_system(1)|cervix(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(17)|lung(19)|ovary(3)|pancreas(1)|prostate(3)|skin(8)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(3) 84 GTTACCATTGGGTGGGCCGTG 0.517000 14 101 0 0 0.000422831 0 0 LRRC49 54839 broad.mit.edu 37 15 71305224 71305224 + Missense_Mutation SNP C C T TCGA-D3-A2JL-06A-11D-A196-08 TCGA-D3-A2JL-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 06d6341f-cb6d-4a7e-9213-c7bb394aca56 bf91785e-7b33-4bd0-8ff5-c20c20b4e985 g.chr15:71305224C>T ENST00000260382.5 + 14 1935 c.1675C>T c.(1675-1677)Cgt>Tgt p.R559C LRRC49_ENST00000560158.2_Missense_Mutation_p.R247C|LRRC49_ENST00000443425.2_Missense_Mutation_p.R515C|LRRC49_ENST00000560369.1_Missense_Mutation_p.R564C|LRRC49_ENST00000544974.2_Missense_Mutation_p.R549C|LRRC49_ENST00000436542.2_3'UTR|LRRC49_ENST00000560691.1_Missense_Mutation_p.R265C NM_001199017.1|NM_017691.3 NP_001185946.1|NP_060161.2 Q8IUZ0 LRC49_HUMAN leucine rich repeat containing 49 559 cytoplasm|microtubule breast(1)|central_nervous_system(1)|endometrium(4)|large_intestine(6)|lung(14)|ovary(2)|prostate(3)|skin(3) 34 ACCCCAGTATCGTCTGATTTC 0.363000 13 21 0 0 0.000151284 0 0 FLG 2312 broad.mit.edu 37 1 152285304 152285304 + Silent SNP C C T TCGA-D3-A2JL-06A-11D-A196-08 TCGA-D3-A2JL-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 06d6341f-cb6d-4a7e-9213-c7bb394aca56 bf91785e-7b33-4bd0-8ff5-c20c20b4e985 g.chr1:152285304C>T ENST00000368799.1 - 3 2093 c.2058G>A c.(2056-2058)caG>caA p.Q686Q FLG-AS1_ENST00000593011.1_RNA|FLG-AS1_ENST00000420707.1_RNA NM_002016.1 NP_002007.1 P20930 FILA_HUMAN filaggrin 686 Ser-rich. keratinocyte differentiation cytoplasmic membrane-bounded vesicle|intermediate filament calcium ion binding|structural molecule activity autonomic_ganglia(1)|breast(13)|central_nervous_system(5)|cervix(2)|endometrium(38)|haematopoietic_and_lymphoid_tissue(1)|kidney(16)|large_intestine(57)|lung(211)|ovary(13)|pancreas(1)|prostate(15)|skin(24)|stomach(5)|upper_aerodigestive_tract(10)|urinary_tract(12) 424 Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127) LUSC - Lung squamous cell carcinoma(543;0.206) TAGAGGAATTCTGTGTGTGAC 0.552000 Ichthyosis 100 299 0 0 0.000147903 0 0 TMEM56 148534 broad.mit.edu 37 1 95616880 95616880 + Splice_Site SNP G G A TCGA-D3-A2JL-06A-11D-A196-08 TCGA-D3-A2JL-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 06d6341f-cb6d-4a7e-9213-c7bb394aca56 bf91785e-7b33-4bd0-8ff5-c20c20b4e985 g.chr1:95616880G>A ENST00000370203.4 + 5 595 c.e5-1 RP11-57H12.6_ENST00000604534.1_Splice_Site NM_001199679.1|NM_152487.2 NP_001186608.1|NP_689700.1 Q96MV1 TMM56_HUMAN transmembrane protein 56 integral to membrane breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(3)|prostate(2)|skin(1)|urinary_tract(1) 12 all_lung(203;0.0232)|Lung NSC(277;0.0739) all cancers(265;0.133) CTTTCTTACAGATTTGTCCAT 0.348000 7 13 0 0 0.000157383 0 0 LRRC46 90506 broad.mit.edu 37 17 45913763 45913763 + Missense_Mutation SNP T T C TCGA-D3-A2JL-06A-11D-A196-08 TCGA-D3-A2JL-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 06d6341f-cb6d-4a7e-9213-c7bb394aca56 bf91785e-7b33-4bd0-8ff5-c20c20b4e985 g.chr17:45913763T>C ENST00000269025.4 + 7 880 c.517T>C c.(517-519)Tgg>Cgg p.W173R NM_033413.3 NP_219481.1 Q96FV0 LRC46_HUMAN leucine rich repeat containing 46 173 LRRCT. endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(3)|ovary(1) 9 GGTGGAGCGCTGGATTTCGGA 0.592000 28 22 0 0 0.000279167 0 0 DOCK11 139818 broad.mit.edu 37 X 117749610 117749610 + Silent SNP C C T TCGA-D3-A2JL-06A-11D-A196-08 TCGA-D3-A2JL-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 06d6341f-cb6d-4a7e-9213-c7bb394aca56 bf91785e-7b33-4bd0-8ff5-c20c20b4e985 g.chrX:117749610C>T ENST00000276204.6 + 30 3302 c.3228C>T c.(3226-3228)caC>caT p.H1076H DOCK11_ENST00000276202.7_Silent_p.H1076H Q5JSL3 DOC11_HUMAN dedicator of cytokinesis 11 1076 blood coagulation cytosol GTP binding breast(4)|cervix(2)|endometrium(8)|kidney(5)|large_intestine(17)|liver(1)|lung(35)|ovary(4)|prostate(3)|skin(3)|stomach(1)|urinary_tract(1) 84 TTTGCAATCACGAACATTACA 0.353000 9 16 0 0 6.40141e-05 0 0 ABCB8 11194 broad.mit.edu 37 7 150730720 150730720 + Missense_Mutation SNP C C T TCGA-D3-A2JL-06A-11D-A196-08 TCGA-D3-A2JL-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 06d6341f-cb6d-4a7e-9213-c7bb394aca56 bf91785e-7b33-4bd0-8ff5-c20c20b4e985 g.chr7:150730720C>T ENST00000358849.4 + 2 217 c.124C>T c.(124-126)Ctc>Ttc p.L42F ABCB8_ENST00000477719.1_Missense_Mutation_p.L42F|ABCB8_ENST00000356058.4_Missense_Mutation_p.L79F|ABCB8_ENST00000498578.1_Missense_Mutation_p.L42F|ABCB8_ENST00000477092.1_Missense_Mutation_p.L42F|ABCB8_ENST00000493338.1_3'UTR|ABCB8_ENST00000297504.6_Missense_Mutation_p.L59F|ABCB8_ENST00000542328.1_Intron NM_007188.3 NP_009119.2 Q9NUT2 ABCB8_HUMAN ATP-binding cassette, sub-family B (MDR/TAP), member 8 59 ATP-binding cassette (ABC) transporter complex|integral to membrane|membrane fraction|mitochondrial inner membrane ATP binding|ATPase activity, coupled to transmembrane movement of substances breast(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(5)|lung(8)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1) 26 OV - Ovarian serous cystadenocarcinoma(82;0.0121) UCEC - Uterine corpus endometrioid carcinoma (81;0.168) CAGCTCCTCCCTCCTCCGGGC 0.677000 29 61 0 0 0.000191422 0 0 CPT1C 126129 broad.mit.edu 37 19 50200690 50200690 + Silent SNP G G A TCGA-D3-A2JL-06A-11D-A196-08 TCGA-D3-A2JL-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 06d6341f-cb6d-4a7e-9213-c7bb394aca56 bf91785e-7b33-4bd0-8ff5-c20c20b4e985 g.chr19:50200690G>A ENST00000392518.4 + 4 621 c.249G>A c.(247-249)ctG>ctA p.L83L CPT1C_ENST00000405931.2_Silent_p.L83L|CPT1C_ENST00000323446.5_Silent_p.L83L|CPT1C_ENST00000598293.1_Silent_p.L83L|CPT1C_ENST00000354199.5_Silent_p.L83L NM_001199752.1 NP_001186681.1 Q8TCG5 CPT1C_HUMAN carnitine palmitoyltransferase 1C 83 fatty acid metabolic process integral to membrane|mitochondrial outer membrane carnitine O-palmitoyltransferase activity breast(1)|central_nervous_system(3)|endometrium(3)|kidney(1)|lung(12)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 27 all_lung(116;1.05e-05)|Lung NSC(112;3.77e-05)|all_neural(266;0.107)|Ovarian(192;0.231) OV - Ovarian serous cystadenocarcinoma(262;0.0011)|GBM - Glioblastoma multiforme(134;0.00786) CCTTAGGACTGATGGAGAAGA 0.557000 19 89 0 0 0.000295444 0 0 RGP1 9827 broad.mit.edu 37 9 35749253 35749253 + Silent SNP G G A TCGA-D3-A2JL-06A-11D-A196-08 TCGA-D3-A2JL-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 06d6341f-cb6d-4a7e-9213-c7bb394aca56 bf91785e-7b33-4bd0-8ff5-c20c20b4e985 g.chr9:35749253G>A ENST00000456972.2 + 1 51 c.51G>A c.(49-51)agG>agA p.R17R GBA2_ENST00000545786.1_Intron Q92546 RGP1_HUMAN RGP1 retrograde golgi transport homolog (S. cerevisiae) 0 cervix(1)|kidney(3)|large_intestine(1)|lung(4)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(2) 14 all_epithelial(49;0.167) Lung(28;0.00416)|LUSC - Lung squamous cell carcinoma(32;0.00418)|STAD - Stomach adenocarcinoma(86;0.194) CGGCCGGAAGGGACTCCGCGG 0.771000 3 6 0 0 0.00024832 0 0 UBR2 23304 broad.mit.edu 37 6 42585058 42585058 + Silent SNP C C T TCGA-D3-A2JL-06A-11D-A196-08 TCGA-D3-A2JL-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 06d6341f-cb6d-4a7e-9213-c7bb394aca56 bf91785e-7b33-4bd0-8ff5-c20c20b4e985 g.chr6:42585058C>T ENST00000372899.1 + 11 1521 c.1263C>T c.(1261-1263)ttC>ttT p.F421F UBR2_ENST00000372901.1_Intron|UBR2_ENST00000372903.2_Intron|UBR2_ENST00000372883.3_Intron NM_015255.2 NP_056070.1 Q8IWV8 UBR2_HUMAN ubiquitin protein ligase E3 component n-recognin 2 421 cellular response to leucine|chromatin silencing|histone H2A ubiquitination|negative regulation of TOR signaling cascade nucleus|plasma membrane leucine binding|zinc ion binding breast(1)|central_nervous_system(1)|endometrium(10)|kidney(7)|large_intestine(14)|lung(22)|ovary(3)|pancreas(1)|skin(5) 64 Colorectal(47;0.196) Colorectal(64;0.00062)|COAD - Colon adenocarcinoma(64;0.00152)|all cancers(41;0.004)|KIRC - Kidney renal clear cell carcinoma(15;0.02)|Kidney(15;0.0388)|OV - Ovarian serous cystadenocarcinoma(102;0.196) CTGTCCAGTTCTTCACCGCAC 0.458000 11 26 0 0 6.40141e-05 0 0 KCNB2 9312 broad.mit.edu 37 8 73849751 73849751 + Missense_Mutation SNP G G A TCGA-D3-A2JL-06A-11D-A196-08 TCGA-D3-A2JL-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 06d6341f-cb6d-4a7e-9213-c7bb394aca56 bf91785e-7b33-4bd0-8ff5-c20c20b4e985 g.chr8:73849751G>A ENST00000523207.1 + 3 2749 c.2161G>A c.(2161-2163)Gaa>Aaa p.E721K NM_004770.2 NP_004761.2 Q92953 KCNB2_HUMAN potassium voltage-gated channel, Shab-related subfamily, member 2 721 regulation of smooth muscle contraction voltage-gated potassium channel complex delayed rectifier potassium channel activity|protein binding NS(1)|breast(4)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(20)|liver(2)|lung(31)|ovary(2)|pancreas(3)|prostate(2)|skin(8)|upper_aerodigestive_tract(4)|urinary_tract(1) 85 Breast(64;0.137) Epithelial(68;0.105) GAACTTTAAGGAAAATAGAGG 0.527000 6 60 0 0 8.12818e-05 0 0 EVC2 132884 broad.mit.edu 37 4 5564588 5564588 + Nonsense_Mutation SNP A A T TCGA-D3-A2JL-06A-11D-A196-08 TCGA-D3-A2JL-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 06d6341f-cb6d-4a7e-9213-c7bb394aca56 bf91785e-7b33-4bd0-8ff5-c20c20b4e985 g.chr4:5564588A>T ENST00000310917.2 - 22 4405 c.3674T>A c.(3673-3675)tTg>tAg p.L1225* EVC2_ENST00000344408.5_Nonsense_Mutation_p.L1305*|EVC2_ENST00000344938.1_Intron NM_001166136.1 NP_001159608.1 Q86UK5 LBN_HUMAN Ellis van Creveld syndrome 2 1305 integral to membrane NS(2)|breast(3)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(32)|lung(28)|ovary(4)|pancreas(1)|prostate(2)|skin(2)|stomach(1)|urinary_tract(2) 81 GTCCATGCCCAAGGCCCTCAT 0.478000 28 72 0 0 0.000279167 0 0 RASSF9 9182 broad.mit.edu 37 12 86198613 86198613 + Missense_Mutation SNP C C T TCGA-D3-A2JL-06A-11D-A196-08 TCGA-D3-A2JL-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 06d6341f-cb6d-4a7e-9213-c7bb394aca56 bf91785e-7b33-4bd0-8ff5-c20c20b4e985 g.chr12:86198613C>T ENST00000361228.3 - 2 1543 c.1175G>A c.(1174-1176)gGg>gAg p.G392E NM_005447.3 NP_005438.2 O75901 RASF9_HUMAN Ras association (RalGDS/AF-6) domain family (N-terminal) member 9 392 endosome transport|protein targeting|signal transduction cytosol|endosome|trans-Golgi network transport vesicle membrane protein binding|transporter activity endometrium(2)|kidney(2)|large_intestine(3)|liver(1)|lung(11)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 22 AGGAATCTCCCCATTGCTACT 0.443000 37 135 0 0 0.000270559 0 0 HMGCR 3156 broad.mit.edu 37 5 74638497 74638497 + Missense_Mutation SNP G G T TCGA-D3-A2JL-06A-11D-A196-08 TCGA-D3-A2JL-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 06d6341f-cb6d-4a7e-9213-c7bb394aca56 bf91785e-7b33-4bd0-8ff5-c20c20b4e985 g.chr5:74638497G>T ENST00000287936.4 + 2 223 c.67G>T c.(67-69)Ggg>Tgg p.G23W HMGCR_ENST00000511206.1_Missense_Mutation_p.G23W|HMGCR_ENST00000343975.5_Missense_Mutation_p.G23W NM_000859.2 NP_000850.1 P04035 HMDH_HUMAN 3-hydroxy-3-methylglutaryl-CoA reductase 23 cholesterol biosynthetic process|coenzyme A metabolic process|germ cell migration|gonad development|isoprenoid biosynthetic process endoplasmic reticulum membrane|integral to membrane|peroxisomal membrane hydroxymethylglutaryl-CoA reductase (NADPH) activity|NADP binding breast(1)|endometrium(5)|kidney(3)|large_intestine(3)|lung(6)|ovary(1)|prostate(1) 20 all_lung(232;0.00101)|Lung NSC(167;0.00278)|Ovarian(174;0.0129)|Prostate(461;0.174) OV - Ovarian serous cystadenocarcinoma(47;2.24e-54) Atorvastatin(DB01076)|Bezafibrate(DB01393)|Cerivastatin(DB00439)|Fluvastatin(DB01095)|Lovastatin(DB00227)|NADH(DB00157)|Pravastatin(DB00175)|Rosuvastatin(DB01098)|Simvastatin(DB00641) AGTCATAGTGGGGACAGTGAC 0.438000 15 608 9.7654e-05 0.00249932 9.7654e-05 1 0 CNTNAP5 129684 broad.mit.edu 37 2 125262126 125262126 + Silent SNP C C T TCGA-D3-A2JL-06A-11D-A196-08 TCGA-D3-A2JL-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 06d6341f-cb6d-4a7e-9213-c7bb394aca56 bf91785e-7b33-4bd0-8ff5-c20c20b4e985 g.chr2:125262126C>T ENST00000431078.1 + 8 1681 c.1317C>T c.(1315-1317)atC>atT p.I439I NM_130773.2 NP_570129.1 Q8WYK1 CNTP5_HUMAN contactin associated protein-like 5 439 Laminin G-like 2. cell adhesion|signal transduction integral to membrane receptor binding NS(1)|breast(4)|central_nervous_system(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(3)|kidney(4)|large_intestine(24)|lung(100)|ovary(10)|prostate(12)|skin(4)|upper_aerodigestive_tract(3) 176 BRCA - Breast invasive adenocarcinoma(221;0.248) TAGCTGAAATCCTCACAGGTA 0.498000 3 5 0 0 0.00024832 0 0 FUT5 2527 broad.mit.edu 37 19 5867530 5867530 + Silent SNP C C T TCGA-D3-A2JL-06A-11D-A196-08 TCGA-D3-A2JL-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 06d6341f-cb6d-4a7e-9213-c7bb394aca56 bf91785e-7b33-4bd0-8ff5-c20c20b4e985 g.chr19:5867530C>T ENST00000252675.5 - 5 769 c.207G>A c.(205-207)gcG>gcA p.A69A FUT5_ENST00000588525.1_Silent_p.A69A Q11128 FUT5_HUMAN fucosyltransferase 5 (alpha (1,3) fucosyltransferase) 69 L-fucose catabolic process|protein glycosylation Golgi cisterna membrane|integral to membrane 3-galactosyl-N-acetylglucosaminide 4-alpha-L-fucosyltransferase activity|alpha(1,3)-fucosyltransferase activity central_nervous_system(1)|endometrium(1)|large_intestine(1)|lung(8)|upper_aerodigestive_tract(1) 12 GGGCAGGGGTCGCCATGCTGT 0.667000 10 43 0 0 0.000151284 0 0 AHNAK2 113146 broad.mit.edu 37 14 105418710 105418710 + Silent SNP G G T TCGA-D3-A2JL-06A-11D-A196-08 TCGA-D3-A2JL-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 06d6341f-cb6d-4a7e-9213-c7bb394aca56 bf91785e-7b33-4bd0-8ff5-c20c20b4e985 g.chr14:105418710G>T ENST00000333244.5 - 7 3197 c.3078C>A c.(3076-3078)ccC>ccA p.P1026P AHNAK2_ENST00000557457.1_Intron NM_138420.2 NP_612429.2 Q8IVF2 AHNK2_HUMAN AHNAK nucleoprotein 2 1026 nucleus p.P1026P(1) cervix(4)|endometrium(4)|large_intestine(3)|lung(14)|ovary(2)|prostate(2)|skin(1)|stomach(3) 33 all_cancers(154;0.115)|Melanoma(154;0.155)|all_epithelial(191;0.183) all cancers(16;0.000479)|OV - Ovarian serous cystadenocarcinoma(23;0.00659)|Epithelial(46;0.0151)|GBM - Glioblastoma multiforme(11;0.116) CCTCCACCTTGGGTGCAGACA 0.577000 12 247 0.00010058 0.0025633 0.00010058 1 0 TACC2 10579 broad.mit.edu 37 10 123842478 123842478 + Missense_Mutation SNP C C T TCGA-D3-A2JL-06A-11D-A196-08 TCGA-D3-A2JL-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 06d6341f-cb6d-4a7e-9213-c7bb394aca56 bf91785e-7b33-4bd0-8ff5-c20c20b4e985 g.chr10:123842478C>T ENST00000369005.1 + 4 803 c.463C>T c.(463-465)Ccc>Tcc p.P155S TACC2_ENST00000513429.1_Intron|TACC2_ENST00000515603.1_Missense_Mutation_p.P155S|TACC2_ENST00000453444.2_Missense_Mutation_p.P155S|TACC2_ENST00000515273.1_Missense_Mutation_p.P155S|TACC2_ENST00000334433.3_Missense_Mutation_p.P155S|TACC2_ENST00000358010.1_Intron NM_206862.2 NP_996744.2 O95359 TACC2_HUMAN transforming, acidic coiled-coil containing protein 2 155 microtubule organizing center|nucleus nuclear hormone receptor binding NS(1)|breast(5)|central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(15)|lung(27)|ovary(6)|prostate(3)|skin(8)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(3) 83 all_neural(114;0.0656)|Lung NSC(174;0.136)|all_lung(145;0.17)|Breast(234;0.197) GGCGGCATTTCCCGCTGAGAG 0.587000 7 18 0 0 8.12818e-05 0 0 DPP10 57628 broad.mit.edu 37 2 116594278 116594278 + Missense_Mutation SNP G G A TCGA-D3-A2JL-06A-11D-A196-08 TCGA-D3-A2JL-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 06d6341f-cb6d-4a7e-9213-c7bb394aca56 bf91785e-7b33-4bd0-8ff5-c20c20b4e985 g.chr2:116594278G>A ENST00000410059.1 + 24 2618 c.2138G>A c.(2137-2139)gGc>gAc p.G713D DPP10_ENST00000393147.2_Missense_Mutation_p.G717D|DPP10_ENST00000409163.1_Missense_Mutation_p.G663D|DPP10_ENST00000310323.8_Missense_Mutation_p.G706D NM_001178037.1|NM_020868.3 NP_001171508.1|NP_065919.2 Q8N608 DPP10_HUMAN dipeptidyl-peptidase 10 (non-functional) 713 proteolysis integral to membrane|membrane fraction serine-type peptidase activity breast(4)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(24)|liver(2)|lung(48)|ovary(6)|prostate(1)|skin(5)|soft_tissue(1) 101 AATGTTCATGGCTTGAAAGAA 0.313000 79 181 0 0 0.000147903 0 0 MOV10L1 54456 broad.mit.edu 37 22 50598106 50598106 + Splice_Site SNP G G A TCGA-D3-A2JL-06A-11D-A196-08 TCGA-D3-A2JL-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 06d6341f-cb6d-4a7e-9213-c7bb394aca56 bf91785e-7b33-4bd0-8ff5-c20c20b4e985 g.chr22:50598106G>A ENST00000262794.5 + 24 3299 c.e24-1 MOV10L1_ENST00000395858.3_Splice_Site|MOV10L1_ENST00000395852.1_Splice_Site|MOV10L1_ENST00000545383.1_Splice_Site|MOV10L1_ENST00000540615.1_Splice_Site NM_018995.2 NP_061868.1 Q9BXT6 M10L1_HUMAN Mov10l1, Moloney leukemia virus 10-like 1, homolog (mouse) germ cell development|multicellular organismal development|spermatogenesis ATP binding|ATP-dependent RNA helicase activity|magnesium ion binding|RNA binding breast(2)|endometrium(2)|kidney(5)|large_intestine(18)|lung(20)|ovary(3)|prostate(1)|skin(9)|stomach(4)|urinary_tract(3) 67 all_cancers(38;3.31e-11)|all_epithelial(38;5.69e-10)|all_lung(38;3.73e-05)|Breast(42;0.000525)|Lung NSC(38;0.000954)|Ovarian(80;0.0367)|Lung SC(80;0.114) LUAD - Lung adenocarcinoma(64;0.0215)|BRCA - Breast invasive adenocarcinoma(115;0.24) CTGTTCTCAAGGTGGAGAAAA 0.343000 15 48 0 0 0.000308642 0 0 TP53I13 90313 broad.mit.edu 37 17 27899038 27899038 + Missense_Mutation SNP C C T TCGA-D3-A2JL-06A-11D-A196-08 TCGA-D3-A2JL-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 06d6341f-cb6d-4a7e-9213-c7bb394aca56 bf91785e-7b33-4bd0-8ff5-c20c20b4e985 g.chr17:27899038C>T ENST00000301057.7 + 5 591 c.476C>T c.(475-477)cCc>cTc p.P159L RP11-68I3.2_ENST00000581474.1_RNA NM_138349.2 NP_612358.3 Q8NBR0 P5I13_HUMAN tumor protein p53 inducible protein 13 159 cytoplasm|integral to membrane|plasma membrane NS(1)|kidney(1)|lung(1)|urinary_tract(1) 4 READ - Rectum adenocarcinoma(3;0.236) GAGCCAACTCCCGGTAGAGGG 0.622000 28 23 0 0 0.000227799 0 0 SART1 9092 broad.mit.edu 37 11 65734802 65734802 + Missense_Mutation SNP G G A TCGA-D3-A2JL-06A-11D-A196-08 TCGA-D3-A2JL-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 06d6341f-cb6d-4a7e-9213-c7bb394aca56 bf91785e-7b33-4bd0-8ff5-c20c20b4e985 g.chr11:65734802G>A ENST00000312397.5 + 10 1353 c.1261G>A c.(1261-1263)Gat>Aat p.D421N NM_005146.4 NP_005137.1 O43290 SNUT1_HUMAN squamous cell carcinoma antigen recognized by T cells 421 cell cycle arrest|induction of apoptosis by intracellular signals|positive regulation of cytotoxic T cell differentiation|spliceosomal snRNP assembly Cajal body|catalytic step 2 spliceosome|cytosol endometrium(1)|large_intestine(1)|lung(5)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 11 AGTGCGGGCAGATGACTTGCT 0.587000 29 121 0 0 0.000279167 0 0 MORC1 27136 broad.mit.edu 37 3 108723946 108723946 + Missense_Mutation SNP C C T TCGA-D3-A2JL-06A-11D-A196-08 TCGA-D3-A2JL-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 06d6341f-cb6d-4a7e-9213-c7bb394aca56 bf91785e-7b33-4bd0-8ff5-c20c20b4e985 g.chr3:108723946C>T ENST00000232603.5 - 19 2066 c.1984G>A c.(1984-1986)Gaa>Aaa p.E662K MORC1_ENST00000483760.1_Missense_Mutation_p.E641K NM_014429.3 NP_055244.3 Q86VD1 MORC1_HUMAN MORC family CW-type zinc finger 1 662 cell differentiation|multicellular organismal development|spermatogenesis nucleus ATP binding|zinc ion binding breast(7)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(14)|lung(47)|ovary(3)|prostate(6)|skin(12)|upper_aerodigestive_tract(3) 105 TTGACATTTTCTGGCAGAGCT 0.348000 37 49 0 0 0.000319135 0 0 GTPBP2 54676 broad.mit.edu 37 6 43592393 43592393 + Silent SNP G G A TCGA-D3-A2JL-06A-11D-A196-08 TCGA-D3-A2JL-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 06d6341f-cb6d-4a7e-9213-c7bb394aca56 bf91785e-7b33-4bd0-8ff5-c20c20b4e985 g.chr6:43592393G>A ENST00000307126.5 - 7 953 c.954C>T c.(952-954)atC>atT p.I318I GTPBP2_ENST00000307114.7_Silent_p.I230I|GTPBP2_ENST00000476510.1_5'UTR NM_019096.3 NP_061969.3 Q9BX10 GTPB2_HUMAN GTP binding protein 2 318 GTP binding|GTPase activity breast(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(3)|liver(1)|lung(3)|prostate(1)|skin(2)|urinary_tract(1) 18 all_cancers(18;9.36e-06)|Lung NSC(15;0.00161)|all_lung(25;0.004) all cancers(41;0.000501)|Colorectal(64;0.00245)|COAD - Colon adenocarcinoma(64;0.00536)|STAD - Stomach adenocarcinoma(11;0.0826)|OV - Ovarian serous cystadenocarcinoma(102;0.167) CACATAGGTCGATCTTGCTGA 0.602000 11 71 0 0 6.40141e-05 0 0 C10orf137 26098 broad.mit.edu 37 10 127436243 127436243 + Missense_Mutation SNP T T A TCGA-D3-A2JL-06A-11D-A196-08 TCGA-D3-A2JL-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 06d6341f-cb6d-4a7e-9213-c7bb394aca56 bf91785e-7b33-4bd0-8ff5-c20c20b4e985 g.chr10:127436243T>A ENST00000337623.3 + 19 2956 c.2851T>A c.(2851-2853)Tct>Act p.S951T C10orf137_ENST00000356792.4_Missense_Mutation_p.S985T|RP11-383C5.7_ENST00000593871.1_RNA|RP11-383C5.7_ENST00000602030.1_RNA|RP11-383C5.7_ENST00000449436.1_RNA|RP11-383C5.7_ENST00000594025.1_RNA|RP11-383C5.7_ENST00000600784.1_RNA NM_015608.2 NP_056423.2 Q3B7T1 EDRF1_HUMAN chromosome 10 open reading frame 137 985 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus binding NS(1)|breast(1)|central_nervous_system(1)|endometrium(4)|kidney(5)|large_intestine(12)|lung(20)|ovary(8)|pancreas(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(4) 61 all_lung(145;0.0096)|Lung NSC(174;0.0145)|Colorectal(57;0.0846)|all_neural(114;0.0936) TGCTCCGTTATCTAGAAAAGC 0.378000 4 17 0 0 0.00024832 0 0 BCL11A 53335 broad.mit.edu 37 2 60773237 60773237 + Missense_Mutation SNP G G T TCGA-D3-A2JL-06A-11D-A196-08 TCGA-D3-A2JL-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 06d6341f-cb6d-4a7e-9213-c7bb394aca56 bf91785e-7b33-4bd0-8ff5-c20c20b4e985 g.chr2:60773237G>T ENST00000335712.6 - 2 481 c.254C>A c.(253-255)cCt>cAt p.P85H BCL11A_ENST00000537768.1_5'UTR|BCL11A_ENST00000356842.4_Missense_Mutation_p.P85H|BCL11A_ENST00000538214.1_Missense_Mutation_p.P85H|BCL11A_ENST00000358510.4_Missense_Mutation_p.P85H|BCL11A_ENST00000359629.5_Missense_Mutation_p.P85H NM_022893.3 NP_075044.2 Q9H165 BC11A_HUMAN B-cell CLL/lymphoma 11A (zinc finger protein) 85 Required for nuclear body formation and for SUMO1 recruitment (By similarity). negative regulation of axon extension|negative regulation of collateral sprouting|negative regulation of dendrite development|positive regulation of collateral sprouting|positive regulation of neuron projection development|positive regulation of transcription from RNA polymerase II promoter|protein sumoylation|regulation of dendrite development|regulation of transcription, DNA-dependent|transcription, DNA-dependent cytoplasm|nucleus nucleic acid binding|protein heterodimerization activity|protein homodimerization activity|zinc ion binding NS(1)|breast(6)|central_nervous_system(6)|endometrium(4)|kidney(1)|large_intestine(8)|lung(25)|ovary(2)|pancreas(1)|prostate(2)|skin(3) 59 LUSC - Lung squamous cell carcinoma(5;9.29e-08)|Lung(5;1.34e-06)|Epithelial(17;0.0562)|all cancers(80;0.199) TGAAGGGGAAGGTGGCTTATC 0.463000 T IGH@ B-CLL 232 508 1.85892e-132 4.84002e-131 0.000147903 1 0 RP11-407N17.3 0 broad.mit.edu 37 14 39703424 39703424 + Missense_Mutation SNP G G A TCGA-D3-A2JL-06A-11D-A196-08 TCGA-D3-A2JL-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 06d6341f-cb6d-4a7e-9213-c7bb394aca56 bf91785e-7b33-4bd0-8ff5-c20c20b4e985 g.chr14:39703424G>A ENST00000553728.1 + 1 319 c.106G>A c.(106-108)Gaa>Aaa p.E36K MIA2_ENST00000556784.1_Missense_Mutation_p.E36K|MIA2_ENST00000280082.3_Missense_Mutation_p.E36K TGGTGACTTGGAATGTGAAGG 0.408000 6 7 0 0 3.59834e-05 0 0 FAM166A 401565 broad.mit.edu 37 9 140140000 140140000 + Missense_Mutation SNP G G A rs77069806 by1000genomes TCGA-D3-A2JL-06A-11D-A196-08 TCGA-D3-A2JL-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 06d6341f-cb6d-4a7e-9213-c7bb394aca56 bf91785e-7b33-4bd0-8ff5-c20c20b4e985 g.chr9:140140000G>A ENST00000344774.4 - 3 335 c.281C>T c.(280-282)cCc>cTc p.P94L FAM166A_ENST00000388932.2_Missense_Mutation_p.P94L NM_001001710.1 NP_001001710.1 Q6J272 F166A_HUMAN family with sequence similarity 166, member A 94 kidney(3)|lung(7)|ovary(2)|prostate(1)|urinary_tract(2) 15 GTTCTTAGAGGGCTTCAGACC 0.622000 8 58 0 0 3.86212e-05 0 0 NALCN 259232 broad.mit.edu 37 13 101762990 101762990 + Missense_Mutation SNP G G A TCGA-D3-A2JL-06A-11D-A196-08 TCGA-D3-A2JL-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 06d6341f-cb6d-4a7e-9213-c7bb394aca56 bf91785e-7b33-4bd0-8ff5-c20c20b4e985 g.chr13:101762990G>A ENST00000251127.6 - 20 2425 c.2344C>T c.(2344-2346)Ctt>Ttt p.L782F NM_052867.2 NP_443099.1 Q8IZF0 NALCN_HUMAN sodium leak channel, non-selective 782 integral to membrane sodium channel activity|voltage-gated ion channel activity NS(1)|autonomic_ganglia(2)|breast(6)|central_nervous_system(2)|cervix(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(3)|kidney(10)|large_intestine(33)|liver(2)|lung(81)|ovary(8)|pancreas(3)|prostate(5)|skin(6)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1) 177 all_neural(89;0.0438)|Medulloblastoma(90;0.163)|Lung SC(71;0.184) AAAGTTTCAAGAGATTTTCCC 0.383000 5 3 0 0 8.12818e-05 0 0 ABCC10 89845 broad.mit.edu 37 6 43400805 43400805 + Silent SNP C C T TCGA-D3-A2JL-06A-11D-A196-08 TCGA-D3-A2JL-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 06d6341f-cb6d-4a7e-9213-c7bb394aca56 bf91785e-7b33-4bd0-8ff5-c20c20b4e985 g.chr6:43400805C>T ENST00000244533.3 + 1 1317 c.958C>T c.(958-960)Ctg>Ttg p.L320L ABCC10_ENST00000372530.4_Silent_p.L363L|ABCC10_ENST00000443426.2_Intron NM_033450.2 NP_258261.2 Q5T3U5 MRP7_HUMAN ATP-binding cassette, sub-family C (CFTR/MRP), member 10 363 ABC transmembrane type-1 1. integral to membrane|plasma membrane ATP binding|ATPase activity, coupled to transmembrane movement of substances NS(1)|breast(3)|central_nervous_system(1)|endometrium(6)|kidney(4)|large_intestine(8)|lung(21)|ovary(7)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 56 all_lung(25;0.00536) Colorectal(64;0.00245)|COAD - Colon adenocarcinoma(64;0.00536)|all cancers(41;0.0152)|OV - Ovarian serous cystadenocarcinoma(102;0.0804) GCTGAACATCCTGTACTGCAA 0.577000 35 61 0 0 8.91981e-05 0 0 ABCC4 10257 broad.mit.edu 37 13 95858979 95858979 + Missense_Mutation SNP G G A TCGA-D3-A2JL-06A-11D-A196-08 TCGA-D3-A2JL-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 06d6341f-cb6d-4a7e-9213-c7bb394aca56 bf91785e-7b33-4bd0-8ff5-c20c20b4e985 g.chr13:95858979G>A ENST00000376887.4 - 8 1082 c.968C>T c.(967-969)tCa>tTa p.S323L ABCC4_ENST00000536256.1_Missense_Mutation_p.S248L|ABCC4_ENST00000538287.1_3'UTR|ABCC4_ENST00000412704.1_Missense_Mutation_p.S323L|ABCC4_ENST00000431522.1_Missense_Mutation_p.S323L NM_005845.3 NP_005836.2 O15439 MRP4_HUMAN ATP-binding cassette, sub-family C (CFTR/MRP), member 4 323 ABC transmembrane type-1 1. platelet activation|platelet degranulation integral to membrane|membrane fraction|plasma membrane|platelet dense granule membrane 15-hydroxyprostaglandin dehydrogenase (NAD+) activity|ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|chloride channel activity breast(1)|central_nervous_system(4)|endometrium(5)|kidney(4)|large_intestine(9)|lung(13)|ovary(1)|prostate(1)|skin(4)|urinary_tract(1) 43 all_neural(89;0.0878)|Medulloblastoma(90;0.163) Cefazolin(DB01327) ACTGAAAAATGAAGCCAAATT 0.473000 32 110 0 0 0.000191422 0 0 SPATA8 145946 broad.mit.edu 37 15 97328286 97328286 + Missense_Mutation SNP C C T TCGA-D3-A2JL-06A-11D-A196-08 TCGA-D3-A2JL-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 06d6341f-cb6d-4a7e-9213-c7bb394aca56 bf91785e-7b33-4bd0-8ff5-c20c20b4e985 g.chr15:97328286C>T ENST00000328504.3 + 3 524 c.257C>T c.(256-258)tCc>tTc p.S86F SPATA8_ENST00000558553.1_Silent_p.F45F NM_173499.3 NP_775770.1 Q6RVD6 SPAT8_HUMAN spermatogenesis associated 8 86 large_intestine(4)|lung(8)|ovary(1)|skin(3) 16 Melanoma(26;0.0142)|Lung NSC(78;0.041)|all_lung(78;0.0468) OV - Ovarian serous cystadenocarcinoma(32;0.0718) CCATCTGCTTCCCCACTGATT 0.453000 36 99 0 0 0.000132358 0 0 RANGAP1 5905 broad.mit.edu 37 22 41660752 41660752 + Silent SNP G G A TCGA-D3-A2JL-06A-11D-A196-08 TCGA-D3-A2JL-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 06d6341f-cb6d-4a7e-9213-c7bb394aca56 bf91785e-7b33-4bd0-8ff5-c20c20b4e985 g.chr22:41660752G>A ENST00000455915.2 - 4 1865 c.396C>T c.(394-396)ttC>ttT p.F132F RANGAP1_ENST00000405486.1_Silent_p.F132F|RANGAP1_ENST00000356244.3_Silent_p.F132F|RANGAP1_ENST00000407260.4_Silent_p.F122F P46060 RAGP1_HUMAN Ran GTPase activating protein 1 132 mitotic prometaphase|signal transduction condensed chromosome kinetochore|cytosol|nuclear membrane|nuclear pore|soluble fraction|spindle pole protein binding|Ran GTPase activator activity breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(3)|lung(7)|upper_aerodigestive_tract(1)|urinary_tract(1) 19 GCAGGGCCTCGAAGCCTTGCA 0.617000 9 51 0 0 0.000274275 0 0 TMEM189 387521 broad.mit.edu 37 20 48699408 48699408 + Missense_Mutation SNP G G A TCGA-D3-A2JL-06A-11D-A196-08 TCGA-D3-A2JL-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 06d6341f-cb6d-4a7e-9213-c7bb394aca56 bf91785e-7b33-4bd0-8ff5-c20c20b4e985 g.chr20:48699408G>A ENST00000557021.1 - 8 1170 c.1010C>T c.(1009-1011)tCa>tTa p.S337L UBE2V1_ENST00000371657.5_Missense_Mutation_p.S72L|UBE2V1_ENST00000340309.3_Missense_Mutation_p.S137L|UBE2V1_ENST00000371677.3_Missense_Mutation_p.S137L|UBE2V1_ENST00000371674.3_Missense_Mutation_p.S114L|UBE2V1_ENST00000415862.2_Missense_Mutation_p.S70L|UBE2V1_ENST00000420027.2_Missense_Mutation_p.S70L|UBE2V1_ENST00000396059.3_5'UTR|TMEM189-UBE2V1_ENST00000341698.2_Missense_Mutation_p.S337L NM_199203.2 NP_954673.1 transmembrane protein 189 breast(1)|endometrium(2)|large_intestine(3)|lung(2) 8 BRCA - Breast invasive adenocarcinoma(9;3.02e-07) GATGCTATATGAATTCTGCCA 0.423000 38 124 0 0 0.000132358 0 0 NDST2 8509 broad.mit.edu 37 10 75566505 75566505 + Silent SNP G G A rs35023121 byFrequency TCGA-D3-A2JL-06A-11D-A196-08 TCGA-D3-A2JL-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 06d6341f-cb6d-4a7e-9213-c7bb394aca56 bf91785e-7b33-4bd0-8ff5-c20c20b4e985 g.chr10:75566505G>A ENST00000299641.4 - 6 1759 c.789C>T c.(787-789)ttC>ttT p.F263F NDST2_ENST00000309979.6_Silent_p.F386F NM_003635.3 NP_003626.1 P52849 NDST2_HUMAN N-deacetylase/N-sulfotransferase (heparan glucosaminyl) 2 386 Heparan sulfate N-deacetylase 2. Golgi membrane|integral to membrane [heparan sulfate]-glucosamine N-sulfotransferase activity|hydrolase activity cervix(1)|endometrium(4)|kidney(1)|large_intestine(7)|lung(11)|ovary(2)|prostate(2)|skin(1)|urinary_tract(1) 30 Prostate(51;0.0112) ACATGTGGGGGAACCACCAGA 0.577000 12 32 0 0 0.000151284 0 0 SLC9C1 285335 broad.mit.edu 37 3 111950327 111950327 + Missense_Mutation SNP C C T TCGA-D3-A2JL-06A-11D-A196-08 TCGA-D3-A2JL-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 06d6341f-cb6d-4a7e-9213-c7bb394aca56 bf91785e-7b33-4bd0-8ff5-c20c20b4e985 g.chr3:111950327C>T ENST00000305815.5 - 13 1705 c.1453G>A c.(1453-1455)Gaa>Aaa p.E485K SLC9C1_ENST00000487372.1_Missense_Mutation_p.E437K NM_183061.1 NP_898884.1 Q4G0N8 S9A10_HUMAN solute carrier family 9, subfamily C (Na+-transporting carboxylic acid decarboxylase), member 1 485 cell differentiation|multicellular organismal development|sodium ion transport|spermatogenesis cilium|flagellar membrane|integral to membrane solute:hydrogen antiporter activity GTTTCTTCTTCGTTCAACTAA 0.333000 6 7 0 0 3.59834e-05 0 0 ISM2 145501 broad.mit.edu 37 14 77951247 77951247 + Missense_Mutation SNP C C T TCGA-D3-A2JL-06A-11D-A196-08 TCGA-D3-A2JL-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 06d6341f-cb6d-4a7e-9213-c7bb394aca56 bf91785e-7b33-4bd0-8ff5-c20c20b4e985 g.chr14:77951247C>T ENST00000342219.4 - 2 213 c.157G>A c.(157-159)Gat>Aat p.D53N ISM2_ENST00000393684.3_5'UTR|ISM2_ENST00000429906.1_Intron|ISM2_ENST00000412904.1_Missense_Mutation_p.D53N|ISM2_ENST00000493585.1_Missense_Mutation_p.D53N NM_199296.2 NP_954993.1 Q6H9L7 ISM2_HUMAN isthmin 2 53 extracellular region endometrium(3)|large_intestine(4)|lung(11)|prostate(1)|skin(1)|urinary_tract(1) 21 GGCCTAGGATCTGGGGAGGCT 0.607000 39 80 0 0 0.000125731 0 0 HEATR6 63897 broad.mit.edu 37 17 58147098 58147098 + Missense_Mutation SNP C C T TCGA-D3-A2JL-06A-11D-A196-08 TCGA-D3-A2JL-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 06d6341f-cb6d-4a7e-9213-c7bb394aca56 bf91785e-7b33-4bd0-8ff5-c20c20b4e985 g.chr17:58147098C>T ENST00000184956.6 - 7 929 c.913G>A c.(913-915)Gaa>Aaa p.E305K HEATR6_ENST00000585976.1_Missense_Mutation_p.E305K NM_022070.4 NP_071353.4 Q6AI08 HEAT6_HUMAN HEAT repeat containing 6 305 binding NS(1)|breast(4)|endometrium(5)|kidney(2)|large_intestine(4)|lung(7)|ovary(2)|pancreas(1)|prostate(4)|skin(10)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2) 44 all_cancers(5;2.25e-13)|Breast(5;4.84e-25)|all_neural(34;0.0878)|Medulloblastoma(34;0.0922) BRCA - Breast invasive adenocarcinoma(1;5.93e-19)|Epithelial(12;7.59e-12)|all cancers(12;1.26e-10) GCACTGGATTCTGATTGCTGT 0.403000 22 133 0 0 0.000295444 0 0 MXRA5 25878 broad.mit.edu 37 X 3242878 3242878 + Missense_Mutation SNP G G A TCGA-D3-A2JL-06A-11D-A196-08 TCGA-D3-A2JL-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 06d6341f-cb6d-4a7e-9213-c7bb394aca56 bf91785e-7b33-4bd0-8ff5-c20c20b4e985 g.chrX:3242878G>A ENST00000217939.6 - 5 1002 c.848C>T c.(847-849)cCt>cTt p.P283L NM_015419.3 NP_056234.2 Q9NR99 MXRA5_HUMAN matrix-remodelling associated 5 283 extracellular region NS(1)|biliary_tract(1)|breast(4)|central_nervous_system(3)|cervix(2)|endometrium(8)|kidney(2)|large_intestine(32)|lung(81)|ovary(6)|prostate(3)|skin(9)|stomach(3)|urinary_tract(2) 157 all_lung(23;0.00031)|Lung NSC(23;0.000946) CTGTCTCAGAGGGGACTCTAT 0.493000 39 80 0 0 0.000147903 0 0 PARP1 142 broad.mit.edu 37 1 226564968 226564968 + Silent SNP C C A TCGA-D3-A2JL-06A-11D-A196-08 TCGA-D3-A2JL-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 06d6341f-cb6d-4a7e-9213-c7bb394aca56 bf91785e-7b33-4bd0-8ff5-c20c20b4e985 g.chr1:226564968C>A ENST00000366794.5 - 13 1925 c.1782G>T c.(1780-1782)acG>acT p.T594T NM_001618.3 NP_001609.2 P09874 PARP1_HUMAN poly (ADP-ribose) polymerase 1 594 cellular response to insulin stimulus|protein ADP-ribosylation|regulation of transcription, DNA-dependent|transcription from RNA polymerase II promoter nuclear envelope|nucleolus|transcription factor complex DNA binding|identical protein binding|NAD+ ADP-ribosyltransferase activity|protein N-terminus binding|transcription factor binding|zinc ion binding breast(2)|endometrium(4)|kidney(4)|large_intestine(8)|lung(15)|ovary(3)|prostate(2)|skin(4)|upper_aerodigestive_tract(2) 44 Breast(184;0.133) GBM - Glioblastoma multiforme(131;0.0531) TACCGATCACCGTACCCACAC 0.512000 Poly(ADP-ribose) polymerase (PARP) enzymes that bind to DNA 8 300 0.000274275 0.00696045 0.000274275 1 0 LMTK2 22853 broad.mit.edu 37 7 97822756 97822756 + Silent SNP C C T TCGA-D3-A2JL-06A-11D-A196-08 TCGA-D3-A2JL-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 06d6341f-cb6d-4a7e-9213-c7bb394aca56 bf91785e-7b33-4bd0-8ff5-c20c20b4e985 g.chr7:97822756C>T ENST00000297293.5 + 11 3272 c.2979C>T c.(2977-2979)tcC>tcT p.S993S NM_014916.3 NP_055731.2 Q8IWU2 LMTK2_HUMAN lemur tyrosine kinase 2 993 early endosome to late endosome transport|endocytic recycling|peptidyl-serine phosphorylation|peptidyl-threonine phosphorylation|protein autophosphorylation|receptor recycling|transferrin transport early endosome|Golgi apparatus|integral to membrane|perinuclear region of cytoplasm|recycling endosome ATP binding|myosin VI binding|protein phosphatase inhibitor activity|protein serine/threonine kinase activity|protein tyrosine kinase activity NS(2)|breast(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(13)|lung(25)|ovary(1)|pancreas(2)|skin(2)|stomach(3) 59 all_cancers(62;3.23e-09)|all_epithelial(64;7.65e-10)|Lung NSC(181;0.00902)|all_lung(186;0.0104)|Esophageal squamous(72;0.0125) CTGAGCCGTCCCTGGAAACCC 0.587000 58 113 0 0 0.000147903 0 0 GRIN2A 2903 broad.mit.edu 37 16 9858416 9858416 + Silent SNP C C T TCGA-D3-A2JL-06A-11D-A196-08 TCGA-D3-A2JL-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 06d6341f-cb6d-4a7e-9213-c7bb394aca56 bf91785e-7b33-4bd0-8ff5-c20c20b4e985 g.chr16:9858416C>T ENST00000396573.2 - 14 3294 c.2985G>A c.(2983-2985)acG>acA p.T995T GRIN2A_ENST00000330684.3_Silent_p.T995T|GRIN2A_ENST00000396575.2_Silent_p.T995T|GRIN2A_ENST00000562109.1_Silent_p.T995T|GRIN2A_ENST00000404927.2_Silent_p.T995T|GRIN2A_ENST00000535259.1_Silent_p.T838T NM_000833.3 NP_000824.1 Q12879 NMDE1_HUMAN glutamate receptor, ionotropic, N-methyl D-aspartate 2A 995 response to ethanol cell junction|N-methyl-D-aspartate selective glutamate receptor complex|outer membrane-bounded periplasmic space|postsynaptic membrane N-methyl-D-aspartate selective glutamate receptor activity|zinc ion binding NS(7)|breast(5)|cervix(1)|endometrium(11)|kidney(6)|large_intestine(36)|lung(71)|ovary(4)|prostate(9)|skin(45)|upper_aerodigestive_tract(2)|urinary_tract(1) 198 Felbamate(DB00949)|Glycine(DB00145)|L-Glutamic Acid(DB00142)|Loperamide(DB00836)|Memantine(DB01043) CCACCTCCACCGTGTTAGGGT 0.498000 10 26 0 0 2.17888e-05 0 0 XRRA1 143570 broad.mit.edu 37 11 74554479 74554479 + Nonsense_Mutation SNP C C T TCGA-D3-A2JL-06A-11D-A196-08 TCGA-D3-A2JL-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 06d6341f-cb6d-4a7e-9213-c7bb394aca56 bf91785e-7b33-4bd0-8ff5-c20c20b4e985 g.chr11:74554479C>T ENST00000340360.6 - 19 2476 c.2145G>A c.(2143-2145)tgG>tgA p.W715* XRRA1_ENST00000527087.1_Missense_Mutation_p.G593E|XRRA1_ENST00000321448.8_Nonsense_Mutation_p.W440* NM_182969.2 NP_892014.1 Q6P2D8 XRRA1_HUMAN X-ray radiation resistance associated 1 715 response to X-ray cytoplasm|nucleus breast(1)|central_nervous_system(2)|endometrium(1)|kidney(1)|large_intestine(4)|lung(8)|prostate(3) 20 GCCGTTCTGTCCACTGGTGCA 0.582000 3 6 0 0 0.00024832 0 0 GYS2 2998 broad.mit.edu 37 12 21690091 21690091 + Missense_Mutation SNP G G A TCGA-D3-A2JL-06A-11D-A196-08 TCGA-D3-A2JL-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 06d6341f-cb6d-4a7e-9213-c7bb394aca56 bf91785e-7b33-4bd0-8ff5-c20c20b4e985 g.chr12:21690091G>A ENST00000261195.2 - 16 2163 c.1909C>T c.(1909-1911)Ccc>Tcc p.P637S NM_021957.3 NP_068776.2 P54840 GYS2_HUMAN glycogen synthase 2 (liver) 637 glucose metabolic process|glycogen biosynthetic process|response to glucose stimulus cortical actin cytoskeleton|cytosol|ectoplasm|insoluble fraction|soluble fraction glycogen (starch) synthase activity|protein homodimerization activity NS(1)|breast(2)|endometrium(5)|kidney(1)|large_intestine(14)|lung(14)|prostate(6)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1) 48 GAAGGCCTGGGATATTTAAAT 0.433000 5 13 0 0 8.12818e-05 0 0 SPTBN5 51332 broad.mit.edu 37 15 42145866 42145866 + Silent SNP G G A TCGA-D3-A2JL-06A-11D-A196-08 TCGA-D3-A2JL-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 06d6341f-cb6d-4a7e-9213-c7bb394aca56 bf91785e-7b33-4bd0-8ff5-c20c20b4e985 g.chr15:42145866G>A ENST00000320955.6 - 58 10121 c.9894C>T c.(9892-9894)acC>acT p.T3298T NM_016642.2 NP_057726.4 Q9NRC6 SPTN5_HUMAN spectrin, beta, non-erythrocytic 5 3298 actin cytoskeleton organization|actin filament capping|axon guidance cytosol|membrane|spectrin NS(1)|breast(1)|central_nervous_system(3)|endometrium(9)|haematopoietic_and_lymphoid_tissue(3)|kidney(4)|large_intestine(6)|lung(18)|ovary(5)|prostate(8)|skin(2)|stomach(1)|upper_aerodigestive_tract(1) 62 all_cancers(109;1.84e-17)|all_epithelial(112;1.12e-15)|Lung NSC(122;7.6e-10)|all_lung(180;4.15e-09)|Melanoma(134;0.0179)|Ovarian(310;0.143)|Colorectal(260;0.173) all cancers(2;4.33e-34)|Epithelial(2;1.72e-25)|OV - Ovarian serous cystadenocarcinoma(18;8.32e-20)|GBM - Glioblastoma multiforme(94;4.69e-07)|Colorectal(2;0.00104)|COAD - Colon adenocarcinoma(120;0.0405)|READ - Rectum adenocarcinoma(92;0.0908) TCGCCTGCAGGGTGGCCCAGG 0.697000 5 31 0 0 0.000157383 0 0 MFAP1 4236 broad.mit.edu 37 15 44107265 44107265 + Nonsense_Mutation SNP G G A TCGA-D3-A2JL-06A-11D-A196-08 TCGA-D3-A2JL-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 06d6341f-cb6d-4a7e-9213-c7bb394aca56 bf91785e-7b33-4bd0-8ff5-c20c20b4e985 g.chr15:44107265G>A ENST00000267812.3 - 3 539 c.307C>T c.(307-309)Cga>Tga p.R103* NM_005926.2 NP_005917.2 P55081 MFAP1_HUMAN microfibrillar-associated protein 1 103 microfibril breast(2)|endometrium(1)|kidney(1)|lung(6)|skin(2)|upper_aerodigestive_tract(3) 15 all_cancers(109;7.57e-15)|all_epithelial(112;3.51e-12)|Lung NSC(122;4.72e-08)|all_lung(180;4.9e-07)|Melanoma(134;0.027)|Colorectal(260;0.215) GBM - Glioblastoma multiforme(94;4.33e-07) TTTCGATGTCGAGCCAATCTG 0.423000 17 39 0 0 7.07596e-05 0 0 EN2 2020 broad.mit.edu 37 7 155255095 155255095 + Missense_Mutation SNP A A G TCGA-D3-A2JL-06A-11D-A196-08 TCGA-D3-A2JL-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 06d6341f-cb6d-4a7e-9213-c7bb394aca56 bf91785e-7b33-4bd0-8ff5-c20c20b4e985 g.chr7:155255095A>G ENST00000297375.4 + 2 964 c.715A>G c.(715-717)Aac>Gac p.N239D NM_001427.3 NP_001418.2 P19622 HME2_HUMAN engrailed homeobox 2 239 nucleus sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity central_nervous_system(1)|large_intestine(1)|lung(2) 4 all_neural(206;0.119) all_hematologic(28;0.0592) OV - Ovarian serous cystadenocarcinoma(82;0.011) UCEC - Uterine corpus endometrioid carcinoma (81;0.168) AAAGAAGAAGAACCCGAACAA 0.582000 9 82 0 0 0.000274275 0 0 KIAA1549 57670 broad.mit.edu 37 7 138583706 138583706 + Missense_Mutation SNP G G A TCGA-D3-A2JL-06A-11D-A196-08 TCGA-D3-A2JL-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 06d6341f-cb6d-4a7e-9213-c7bb394aca56 bf91785e-7b33-4bd0-8ff5-c20c20b4e985 g.chr7:138583706G>A ENST00000440172.1 - 9 3890 c.3842C>T c.(3841-3843)gCc>gTc p.A1281V KIAA1549_ENST00000242365.4_Missense_Mutation_p.A1231V|KIAA1549_ENST00000422774.1_Missense_Mutation_p.A1281V NM_001164665.1|NM_020910.2 NP_001158137.1|NP_065961.2 Q9HCM3 K1549_HUMAN KIAA1549 1281 integral to membrane KIAA1549/BRAF(703) large_intestine(4)|pancreas(1)|upper_aerodigestive_tract(2) 7 CTTACGCTGGGCAATGACACC 0.512000 O BRAF pilocytic astrocytoma 19 79 0 0 0.000175454 0 0 EPAS1 2034 broad.mit.edu 37 2 46574202 46574202 + Splice_Site SNP G G A TCGA-D3-A2JL-06A-11D-A196-08 TCGA-D3-A2JL-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 06d6341f-cb6d-4a7e-9213-c7bb394aca56 bf91785e-7b33-4bd0-8ff5-c20c20b4e985 g.chr2:46574202G>A ENST00000263734.3 + 2 727 c.217_splice c.e2+1 p.V73_splice EPAS1_ENST00000467888.1_3'UTR NM_001430.4 NP_001421.2 Q99814 EPAS1_HUMAN endothelial PAS domain protein 1 73 angiogenesis|myoblast cell fate commitment|positive regulation of transcription from RNA polymerase II promoter|response to hypoxia transcription factor complex histone acetyltransferase binding|protein heterodimerization activity|sequence-specific enhancer binding RNA polymerase II transcription factor activity|signal transducer activity|transcription coactivator activity|transcription factor binding NS(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|liver(2)|lung(11)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1) 39 all_hematologic(82;0.152)|Acute lymphoblastic leukemia(82;0.18) LUSC - Lung squamous cell carcinoma(58;0.151) CCTCTCCTCAGGTAAGGCCAG 0.592000 11 48 0 0 0.00010058 0 0 RSF1 51773 broad.mit.edu 37 11 77412870 77412870 + Silent SNP C C T TCGA-D3-A2JL-06A-11D-A196-08 TCGA-D3-A2JL-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 06d6341f-cb6d-4a7e-9213-c7bb394aca56 bf91785e-7b33-4bd0-8ff5-c20c20b4e985 g.chr11:77412870C>T ENST00000308488.6 - 6 1706 c.1404G>A c.(1402-1404)aaG>aaA p.K468K RSF1_ENST00000360355.2_Silent_p.K437K|RSF1_ENST00000480887.1_Silent_p.K216K Q96T23 RSF1_HUMAN remodeling and spacing factor 1 468 CenH3-containing nucleosome assembly at centromere|negative regulation of DNA binding|negative regulation of transcription, DNA-dependent|nucleosome positioning|positive regulation of transcription, DNA-dependent|positive regulation of viral transcription|transcription initiation, DNA-dependent RSF complex histone binding|protein binding|zinc ion binding breast(3)|central_nervous_system(2)|endometrium(3)|kidney(4)|large_intestine(9)|lung(14)|ovary(2)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1) 43 all_cancers(14;1.54e-17)|all_epithelial(13;4.06e-20)|Ovarian(111;0.152) Epithelial(5;3e-50)|all cancers(3;6.37e-47)|BRCA - Breast invasive adenocarcinoma(5;9.82e-31) AGCTCTCTTCCTTTGTCTCAT 0.398000 4 32 0 0 0.00024832 0 0 MORC4 79710 broad.mit.edu 37 X 106224175 106224175 + Missense_Mutation SNP C C T TCGA-D3-A2JL-06A-11D-A196-08 TCGA-D3-A2JL-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 06d6341f-cb6d-4a7e-9213-c7bb394aca56 bf91785e-7b33-4bd0-8ff5-c20c20b4e985 g.chrX:106224175C>T ENST00000355610.4 - 7 1156 c.882G>A c.(880-882)atG>atA p.M294I MORC4_ENST00000255495.7_Missense_Mutation_p.M294I|MORC4_ENST00000535534.1_Missense_Mutation_p.M42I NM_001085354.2|NM_024657.4 NP_001078823.1|NP_078933.3 Q8TE76 MORC4_HUMAN MORC family CW-type zinc finger 4 294 ATP binding|zinc ion binding endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(4)|lung(7)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2) 28 TCTTGGCAATCATCTGGGTAG 0.398000 7 22 0 0 0.000157383 0 0 PPP2R2B 5521 broad.mit.edu 37 5 145979880 145979880 + Missense_Mutation SNP C C T TCGA-D3-A2JL-06A-11D-A196-08 TCGA-D3-A2JL-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 06d6341f-cb6d-4a7e-9213-c7bb394aca56 bf91785e-7b33-4bd0-8ff5-c20c20b4e985 g.chr5:145979880C>T ENST00000394413.3 - 7 1504 c.934G>A c.(934-936)Gaa>Aaa p.E312K PPP2R2B_ENST00000394414.1_Missense_Mutation_p.E378K|PPP2R2B_ENST00000394409.3_Missense_Mutation_p.E370K|PPP2R2B_ENST00000453001.1_Missense_Mutation_p.E312K|PPP2R2B_ENST00000356826.3_Missense_Mutation_p.E312K|PPP2R2B_ENST00000504198.1_Missense_Mutation_p.E318K|PPP2R2B_ENST00000530902.1_5'UTR|PPP2R2B_ENST00000394410.2_Missense_Mutation_p.E301K|PPP2R2B_ENST00000336640.6_Missense_Mutation_p.E315K|PPP2R2B_ENST00000394411.4_Missense_Mutation_p.E312K|CTB-99A3.1_ENST00000512730.1_RNA|PPP2R2B_ENST00000508545.2_Missense_Mutation_p.E301K Q00005 2ABB_HUMAN protein phosphatase 2, regulatory subunit B, beta 312 apoptosis|signal transduction cytoskeleton|mitochondrial outer membrane|protein phosphatase type 2A complex protein binding|protein phosphatase type 2A regulator activity endometrium(3)|kidney(4)|large_intestine(6)|liver(2)|lung(9)|ovary(1)|prostate(4)|skin(3) 32 KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101) GGGCGGTTTTCCATGTTGAGA 0.468000 14 29 0 0 0.000308642 0 0 MOV10L1 54456 broad.mit.edu 37 22 50598107 50598107 + Splice_Site SNP G G A TCGA-D3-A2JL-06A-11D-A196-08 TCGA-D3-A2JL-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 06d6341f-cb6d-4a7e-9213-c7bb394aca56 bf91785e-7b33-4bd0-8ff5-c20c20b4e985 g.chr22:50598107G>A ENST00000262794.5 + 24 3300 c.3216_splice c.e24-1 p.V1073_splice MOV10L1_ENST00000395858.3_Splice_Site_p.V1073_splice|MOV10L1_ENST00000395852.1_Splice_Site_p.V200_splice|MOV10L1_ENST00000545383.1_Splice_Site_p.V1073_splice|MOV10L1_ENST00000540615.1_Splice_Site_p.V1053_splice NM_018995.2 NP_061868.1 Q9BXT6 M10L1_HUMAN Mov10l1, Moloney leukemia virus 10-like 1, homolog (mouse) 1073 germ cell development|multicellular organismal development|spermatogenesis ATP binding|ATP-dependent RNA helicase activity|magnesium ion binding|RNA binding breast(2)|endometrium(2)|kidney(5)|large_intestine(18)|lung(20)|ovary(3)|prostate(1)|skin(9)|stomach(4)|urinary_tract(3) 67 all_cancers(38;3.31e-11)|all_epithelial(38;5.69e-10)|all_lung(38;3.73e-05)|Breast(42;0.000525)|Lung NSC(38;0.000954)|Ovarian(80;0.0367)|Lung SC(80;0.114) LUAD - Lung adenocarcinoma(64;0.0215)|BRCA - Breast invasive adenocarcinoma(115;0.24) TGTTCTCAAGGTGGAGAAAAT 0.338000 16 48 0 0 0.000422831 0 0 TTC3 7267 broad.mit.edu 37 21 38568329 38568329 + Missense_Mutation SNP T T G TCGA-D3-A2JL-06A-11D-A196-08 TCGA-D3-A2JL-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 06d6341f-cb6d-4a7e-9213-c7bb394aca56 bf91785e-7b33-4bd0-8ff5-c20c20b4e985 g.chr21:38568329T>G ENST00000399017.2 + 42 8318 c.5571T>G c.(5569-5571)tgT>tgG p.C1857W TTC3_ENST00000355666.1_Missense_Mutation_p.C1857W|TTC3_ENST00000354749.2_Missense_Mutation_p.C1857W|TTC3_ENST00000479930.1_3'UTR NM_003316.3 NP_003307.3 P53804 TTC3_HUMAN tetratricopeptide repeat domain 3 1857 protein K48-linked ubiquitination|ubiquitin-dependent protein catabolic process nucleus protein binding|ubiquitin-protein ligase activity|zinc ion binding breast(5)|endometrium(7)|kidney(5)|large_intestine(17)|liver(1)|lung(18)|ovary(4)|prostate(2)|skin(9)|upper_aerodigestive_tract(2)|urinary_tract(5) 75 Myeloproliferative disorder(46;0.0412) TATTCCCATGTTACAACAGGT 0.423000 5 38 0 0 3.59834e-05 0 0 PFKFB2 5208 broad.mit.edu 37 1 207235977 207235977 + Missense_Mutation SNP G G T TCGA-D3-A2JL-06A-11D-A196-08 TCGA-D3-A2JL-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 06d6341f-cb6d-4a7e-9213-c7bb394aca56 bf91785e-7b33-4bd0-8ff5-c20c20b4e985 g.chr1:207235977G>T ENST00000367080.3 + 4 348 c.224G>T c.(223-225)gGg>gTg p.G75V PFKFB2_ENST00000367079.2_Missense_Mutation_p.G75V|PFKFB2_ENST00000411990.2_5'UTR|PFKFB2_ENST00000545806.1_Missense_Mutation_p.G42V NM_006212.2 NP_006203.2 O60825 F262_HUMAN 6-phosphofructo-2-kinase/fructose-2,6-biphosphatase 2 75 6-phosphofructo-2-kinase. fructose 2,6-bisphosphate metabolic process|glycolysis cytosol 6-phosphofructo-2-kinase activity|ATP binding|fructose-2,6-bisphosphate 2-phosphatase activity endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(3)|liver(1)|lung(7)|ovary(1)|skin(1)|urinary_tract(1) 20 Prostate(682;0.19) TTTAATCTTGGGGTGTATCGG 0.458000 12 498 0.000308642 0.00781611 0.000308642 1 0 SNHG14 104472715 broad.mit.edu 37 15 25304718 25304718 + RNA SNP C C T TCGA-D3-A2JL-06A-11D-A196-08 TCGA-D3-A2JL-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 06d6341f-cb6d-4a7e-9213-c7bb394aca56 bf91785e-7b33-4bd0-8ff5-c20c20b4e985 g.chr15:25304718C>T ENST00000549804.2 + 0 111 SNHG14_ENST00000384733.1_RNA AAAAACATTCCTTGGAAAAGC 0.502000 23 111 0 0 0.000117367 0 0 SPATA32 124783 broad.mit.edu 37 17 43332772 43332772 + Silent SNP G G A TCGA-D3-A2JL-06A-11D-A196-08 TCGA-D3-A2JL-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 06d6341f-cb6d-4a7e-9213-c7bb394aca56 bf91785e-7b33-4bd0-8ff5-c20c20b4e985 g.chr17:43332772G>A ENST00000543122.1 - 6 1495 c.714C>T c.(712-714)ccC>ccT p.P238P SPATA32_ENST00000331780.4_Silent_p.P259P|MAP3K14-AS1_ENST00000590100.1_RNA|MAP3K14-AS1_ENST00000588698.1_RNA|MAP3K14-AS1_ENST00000588504.1_RNA|MAP3K14-AS1_ENST00000591263.1_RNA|MAP3K14-AS1_ENST00000588160.1_RNA|MAP3K14-AS1_ENST00000592422.1_RNA|MAP3K14-AS1_ENST00000585346.1_RNA spermatogenesis associated 32 GTTCCAAACTGGGCAGGTCCA 0.587000 30 27 0 0 0.000227799 0 0 CTIF 9811 broad.mit.edu 37 18 46146061 46146061 + Missense_Mutation SNP C C T TCGA-D3-A2JL-06A-11D-A196-08 TCGA-D3-A2JL-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 06d6341f-cb6d-4a7e-9213-c7bb394aca56 bf91785e-7b33-4bd0-8ff5-c20c20b4e985 g.chr18:46146061C>T ENST00000256413.3 + 2 420 c.125C>T c.(124-126)gCt>gTt p.A42V CTIF_ENST00000382998.4_Missense_Mutation_p.A42V NM_014772.2 NP_055587.1 O43310 CTIF_HUMAN CBP80/20-dependent translation initiation factor 42 Interaction with NCBP1/CBP80. nuclear-transcribed mRNA catabolic process, nonsense-mediated decay|regulation of translational initiation perinuclear region of cytoplasm protein binding breast(2)|endometrium(1)|kidney(2)|large_intestine(3)|lung(14)|ovary(3)|prostate(1)|skin(4)|upper_aerodigestive_tract(1) 31 GGGCTGCTGGCTGACAAGACG 0.662000 5 9 0 0 3.59834e-05 0 0 KLHL13 90293 broad.mit.edu 37 X 117033291 117033291 + Silent SNP G G A TCGA-D3-A2JL-06A-11D-A196-08 TCGA-D3-A2JL-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 06d6341f-cb6d-4a7e-9213-c7bb394aca56 bf91785e-7b33-4bd0-8ff5-c20c20b4e985 g.chrX:117033291G>A ENST00000371876.1 - 6 3816 c.1395C>T c.(1393-1395)atC>atT p.I465I KLHL13_ENST00000539496.1_Silent_p.I519I|KLHL13_ENST00000540167.1_Silent_p.I500I|KLHL13_ENST00000469946.1_Silent_p.I465I|KLHL13_ENST00000541812.1_Silent_p.I500I|KLHL13_ENST00000262820.3_Silent_p.I516I|KLHL13_ENST00000545703.1_Silent_p.I474I|KLHL13_ENST00000371878.1_Silent_p.I465I|KLHL13_ENST00000371882.1_Silent_p.I465I Q9P2N7 KLH13_HUMAN kelch-like family member 13 516 cytokinesis|mitosis|protein ubiquitination Cul3-RING ubiquitin ligase complex NS(1)|breast(3)|cervix(1)|endometrium(6)|kidney(1)|large_intestine(6)|lung(9)|prostate(2)|skin(3)|stomach(1)|urinary_tract(1) 34 GCGCCTTCTGGATCCATTTGT 0.423000 11 35 0 0 0.00010058 0 0 DIDO1 11083 broad.mit.edu 37 20 61511484 61511484 + Missense_Mutation SNP G G A TCGA-D3-A2JL-06A-11D-A196-08 TCGA-D3-A2JL-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 06d6341f-cb6d-4a7e-9213-c7bb394aca56 bf91785e-7b33-4bd0-8ff5-c20c20b4e985 g.chr20:61511484G>A ENST00000266070.4 - 16 6149 c.5824C>T c.(5824-5826)Ccc>Tcc p.P1942S DIDO1_ENST00000395343.1_Missense_Mutation_p.P1942S NM_033081.2 NP_149072.2 Q9BTC0 DIDO1_HUMAN death inducer-obliterator 1 1942 Pro-rich. apoptosis|transcription, DNA-dependent cytoplasm|nucleus zinc ion binding NS(6)|breast(5)|central_nervous_system(1)|cervix(3)|endometrium(6)|kidney(1)|large_intestine(17)|lung(39)|ovary(8)|prostate(3)|skin(7)|stomach(2)|upper_aerodigestive_tract(1) 99 Breast(26;5.68e-08) AACTGGTTGGGATGAGGGCCC 0.587000 49 162 0 0 0.000147903 0 0 UBE2J2 118424 broad.mit.edu 37 1 1203266 1203266 + Missense_Mutation SNP G G A TCGA-D3-A2JL-06A-11D-A196-08 TCGA-D3-A2JL-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 06d6341f-cb6d-4a7e-9213-c7bb394aca56 bf91785e-7b33-4bd0-8ff5-c20c20b4e985 g.chr1:1203266G>A ENST00000349431.6 - 2 326 c.107C>T c.(106-108)cCc>cTc p.P36L UBE2J2_ENST00000400929.2_Intron|UBE2J2_ENST00000400930.4_Missense_Mutation_p.P36L|UBE2J2_ENST00000347370.2_5'UTR|UBE2J2_ENST00000491779.1_Intron|UBE2J2_ENST00000360466.2_Missense_Mutation_p.P36L|UBE2J2_ENST00000348298.7_5'UTR NM_058167.2 NP_477515.2 Q8N2K1 UB2J2_HUMAN ubiquitin-conjugating enzyme E2, J2 36 response to unfolded protein endoplasmic reticulum membrane|integral to membrane ATP binding|ubiquitin-protein ligase activity cervix(2)|kidney(1)|large_intestine(1)|lung(5)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(2) 13 all_cancers(77;0.00164)|all_epithelial(69;0.000959)|all_lung(157;0.00963)|Lung NSC(156;0.0232)|Ovarian(185;0.0634) all_epithelial(116;8.75e-19)|all_lung(118;2.3e-08)|Lung NSC(185;2.38e-06)|Renal(390;0.00183)|Breast(487;0.00354)|Hepatocellular(190;0.00826)|Myeloproliferative disorder(586;0.0122)|Ovarian(437;0.0308)|Lung SC(97;0.128) Epithelial(90;6.66e-35)|OV - Ovarian serous cystadenocarcinoma(86;3.53e-21)|Colorectal(212;0.00019)|COAD - Colon adenocarcinoma(227;0.000215)|Kidney(185;0.00255)|BRCA - Breast invasive adenocarcinoma(365;0.00266)|STAD - Stomach adenocarcinoma(132;0.00645)|KIRC - Kidney renal clear cell carcinoma(229;0.0371)|Lung(427;0.205) CGAAGGGAGGGGCTCGGCACA 0.627000 82 172 0 0 0.000147903 0 0 PPP1R26 9858 broad.mit.edu 37 9 138376596 138376596 + Silent SNP C C T TCGA-D3-A2JL-06A-11D-A196-08 TCGA-D3-A2JL-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 06d6341f-cb6d-4a7e-9213-c7bb394aca56 bf91785e-7b33-4bd0-8ff5-c20c20b4e985 g.chr9:138376596C>T ENST00000356818.2 + 4 789 c.240C>T c.(238-240)gaC>gaT p.D80D PPP1R26_ENST00000602993.1_Intron|PPP1R26_ENST00000401470.3_Silent_p.D80D|PPP1R26_ENST00000605660.1_Silent_p.D80D|PPP1R26_ENST00000605286.1_Silent_p.D80D|PPP1R26_ENST00000604351.1_Silent_p.D80D NM_014811.3 NP_055626.3 Q5T8A7 K0649_HUMAN protein phosphatase 1, regulatory subunit 26 80 nucleolus protein binding GATGCCACGACGCCAGGCCGG 0.662000 6 37 0 0 8.12818e-05 0 0 TSHZ2 128553 broad.mit.edu 37 20 51872316 51872316 + Silent SNP G G A TCGA-D3-A2JL-06A-11D-A196-08 TCGA-D3-A2JL-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 06d6341f-cb6d-4a7e-9213-c7bb394aca56 bf91785e-7b33-4bd0-8ff5-c20c20b4e985 g.chr20:51872316G>A ENST00000371497.5 + 2 3206 c.2319G>A c.(2317-2319)aaG>aaA p.K773K TSHZ2_ENST00000329613.6_Silent_p.K770K|TSHZ2_ENST00000603338.2_Silent_p.K770K NM_001193421.1|NM_173485.5 NP_001180350.1|NP_775756.3 Q9NRE2 TSH2_HUMAN teashirt zinc finger homeobox 2 773 multicellular organismal development nucleus sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding p.K773K(1) NS(2)|breast(4)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(16)|lung(38)|ovary(5)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2) 84 STAD - Stomach adenocarcinoma(23;0.1) CCAAAAGCAAGAAAGCCGAGT 0.557000 32 108 0 0 8.91981e-05 0 0 NLGN3 54413 broad.mit.edu 37 X 70389545 70389545 + Silent SNP G G A TCGA-D3-A2JL-06A-11D-A196-08 TCGA-D3-A2JL-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 06d6341f-cb6d-4a7e-9213-c7bb394aca56 bf91785e-7b33-4bd0-8ff5-c20c20b4e985 g.chrX:70389545G>A ENST00000374051.3 + 7 2407 c.2085G>A c.(2083-2085)ggG>ggA p.G695G NLGN3_ENST00000536169.1_Silent_p.G675G|NLGN3_ENST00000476589.1_3'UTR|NLGN3_ENST00000358741.3_Silent_p.G715G NM_018977.3 NP_061850.2 Q9NZ94 NLGN3_HUMAN neuroligin 3 715 neuron cell-cell adhesion|positive regulation of synaptogenesis|receptor-mediated endocytosis|social behavior|synapse assembly cell surface|endocytic vesicle|integral to plasma membrane|synapse neurexin binding|receptor activity biliary_tract(1)|breast(1)|central_nervous_system(2)|endometrium(4)|large_intestine(10)|lung(14)|ovary(2)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1) 37 Renal(35;0.156) TCGCCGTGGGGGCCTCCCTCC 0.632000 7 34 0 0 0.000274275 0 0 ARHGAP39 80728 broad.mit.edu 37 8 145773187 145773187 + Missense_Mutation SNP G G A TCGA-D3-A2JL-06A-11D-A196-08 TCGA-D3-A2JL-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 06d6341f-cb6d-4a7e-9213-c7bb394aca56 bf91785e-7b33-4bd0-8ff5-c20c20b4e985 g.chr8:145773187G>A ENST00000276826.5 - 4 1484 c.1283C>T c.(1282-1284)tCc>tTc p.S428F ARHGAP39_ENST00000540274.1_Missense_Mutation_p.S428F|ARHGAP39_ENST00000377307.2_Missense_Mutation_p.S428F Q9C0H5 RHG39_HUMAN Rho GTPase activating protein 39 428 axon guidance|regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction cytoskeleton|cytosol|nucleus GTPase activator activity NS(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|lung(11)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(3) 22 GGGCTGCAAGGAGTACGAACC 0.711000 4 16 0 0 0.00024832 0 0 LIPF 8513 broad.mit.edu 37 10 90427420 90427420 + Missense_Mutation SNP G G A TCGA-D3-A2JL-06A-11D-A196-08 TCGA-D3-A2JL-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 06d6341f-cb6d-4a7e-9213-c7bb394aca56 bf91785e-7b33-4bd0-8ff5-c20c20b4e985 g.chr10:90427420G>A ENST00000394375.3 + 4 343 c.230G>A c.(229-231)gGg>gAg p.G77E LIPF_ENST00000355843.2_Missense_Mutation_p.G67E|LIPF_ENST00000238983.4_Missense_Mutation_p.G67E NM_001198829.1 NP_001185758.1 P07098 LIPG_HUMAN lipase, gastric 67 lipid catabolic process|triglyceride metabolic process extracellular region lipid binding|triglyceride lipase activity NS(1)|cervix(1)|kidney(1)|large_intestine(4)|lung(6) 13 Colorectal(252;0.0161) Colorectal(12;3.91e-05)|COAD - Colon adenocarcinoma(12;5.43e-05) ATTCCTTATGGGAAGAAAAAT 0.358000 16 114 0 0 9.7654e-05 0 0 REXO1 57455 broad.mit.edu 37 19 1827447 1827447 + Silent SNP C C T TCGA-D3-A2JL-06A-11D-A196-08 TCGA-D3-A2JL-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 06d6341f-cb6d-4a7e-9213-c7bb394aca56 bf91785e-7b33-4bd0-8ff5-c20c20b4e985 g.chr19:1827447C>T ENST00000170168.4 - 2 1435 c.1341G>A c.(1339-1341)ggG>ggA p.G447G NM_020695.3 NP_065746.3 Q8N1G1 REXO1_HUMAN REX1, RNA exonuclease 1 homolog (S. cerevisiae) 447 nucleus exonuclease activity|nucleic acid binding breast(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(5)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(1) 16 Ovarian(11;1.78e-06)|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) GCCTCCCTTTCCCTGAGGTGG 0.741000 5 15 0 0 1.23904e-05 0 0 NES 10763 broad.mit.edu 37 1 156642965 156642965 + Missense_Mutation SNP G G A TCGA-D3-A2JL-06A-11D-A196-08 TCGA-D3-A2JL-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 06d6341f-cb6d-4a7e-9213-c7bb394aca56 bf91785e-7b33-4bd0-8ff5-c20c20b4e985 g.chr1:156642965G>A ENST00000368223.3 - 4 1147 c.1015C>T c.(1015-1017)Cca>Tca p.P339S NM_006617.1 NP_006608.1 P48681 NEST_HUMAN nestin 339 Tail. brain development|embryonic camera-type eye development|G2/M transition of mitotic cell cycle|negative regulation of apoptosis|positive regulation of intermediate filament depolymerization|positive regulation of neural precursor cell proliferation|stem cell proliferation cytoplasm|intermediate filament intermediate filament binding|structural molecule activity central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|lung(30)|ovary(6)|prostate(1)|skin(3)|stomach(1)|urinary_tract(4) 64 all_hematologic(923;0.088)|Hepatocellular(266;0.158) CGGCCCTCTGGGGTCCTAGGG 0.587000 6 24 0 0 8.12818e-05 0 0 LOC101928517 101928517 broad.mit.edu 37 19 51671524 51671524 + RNA SNP C C T TCGA-D3-A2JL-06A-11D-A196-08 TCGA-D3-A2JL-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 06d6341f-cb6d-4a7e-9213-c7bb394aca56 bf91785e-7b33-4bd0-8ff5-c20c20b4e985 g.chr19:51671524C>T ENST00000600074.1 - 0 493 SIGLEC17P_ENST00000598286.1_RNA p.I200I(1) TGCTCACGATCATCCCACGGC 0.632000 8 20 0 0 2.17888e-05 0 0 KRIT1 889 broad.mit.edu 37 7 91842565 91842565 + Missense_Mutation SNP G G A TCGA-D3-A2JL-06A-11D-A196-08 TCGA-D3-A2JL-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 06d6341f-cb6d-4a7e-9213-c7bb394aca56 bf91785e-7b33-4bd0-8ff5-c20c20b4e985 g.chr7:91842565G>A ENST00000394507.1 - 18 2752 c.1969C>T c.(1969-1971)Cct>Tct p.P657S KRIT1_ENST00000412043.2_Missense_Mutation_p.P657S|KRIT1_ENST00000340022.2_Missense_Mutation_p.P657S|KRIT1_ENST00000394503.2_Missense_Mutation_p.P609S|KRIT1_ENST00000394505.2_Missense_Mutation_p.P657S NM_194456.1 NP_919438.1 O00522 KRIT1_HUMAN KRIT1, ankyrin repeat containing 657 FERM.|Required for RAP1A binding. angiogenesis|cell redox homeostasis|negative regulation of angiogenesis|negative regulation of endothelial cell apoptosis|negative regulation of endothelial cell migration|negative regulation of endothelial cell proliferation|regulation of establishment of cell polarity|small GTPase mediated signal transduction cell-cell junction|cytoskeleton protein binding|small GTPase regulator activity autonomic_ganglia(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(9)|ovary(2)|stomach(1) 22 all_cancers(62;1.04e-09)|all_epithelial(64;5.75e-09)|Breast(17;0.00206)|all_lung(186;0.0509)|Lung NSC(181;0.0692) STAD - Stomach adenocarcinoma(171;6.16e-05)|Lung(22;0.123)|LUSC - Lung squamous cell carcinoma(200;0.225) ACATACACAGGGATGACTTTA 0.368000 6 71 0 0 0.000274275 0 0 TTLL4 9654 broad.mit.edu 37 2 219614105 219614105 + Silent SNP C C T TCGA-D3-A2JL-06A-11D-A196-08 TCGA-D3-A2JL-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 06d6341f-cb6d-4a7e-9213-c7bb394aca56 bf91785e-7b33-4bd0-8ff5-c20c20b4e985 g.chr2:219614105C>T ENST00000392102.1 + 14 3070 c.2730C>T c.(2728-2730)tcC>tcT p.S910S TTLL4_ENST00000442769.1_Silent_p.S846S|TTLL4_ENST00000258398.4_Silent_p.S910S|TTLL4_ENST00000457313.1_Silent_p.S745S NM_014640.4 NP_055455.3 Q14679 TTLL4_HUMAN tubulin tyrosine ligase-like family, member 4 910 TTL. protein polyglutamylation cilium|microtubule basal body ATP binding|tubulin binding|tubulin-tyrosine ligase activity endometrium(3)|kidney(1)|large_intestine(6)|lung(21)|ovary(3)|skin(3)|upper_aerodigestive_tract(2) 39 Renal(207;0.0915) Epithelial(149;5.03e-07)|all cancers(144;0.000106)|LUSC - Lung squamous cell carcinoma(224;0.00829)|Lung(261;0.0101) TCAACATTTCCCCAAGGTAGG 0.443000 13 27 0 0 0.000308642 0 0 ZNF683 257101 broad.mit.edu 37 1 26691141 26691141 + Missense_Mutation SNP G G A TCGA-D3-A2JL-06A-11D-A196-08 TCGA-D3-A2JL-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 06d6341f-cb6d-4a7e-9213-c7bb394aca56 bf91785e-7b33-4bd0-8ff5-c20c20b4e985 g.chr1:26691141G>A ENST00000436292.1 - 4 1016 c.896C>T c.(895-897)cCa>cTa p.P299L ZNF683_ENST00000403843.1_Missense_Mutation_p.P299L|ZNF683_ENST00000349618.3_Missense_Mutation_p.P299L|ZNF683_ENST00000374204.1_Missense_Mutation_p.P299L Q8IZ20 ZN683_HUMAN zinc finger protein 683 299 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding NS(1)|breast(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(8)|prostate(1)|skin(1) 15 all_cancers(24;2.39e-25)|Colorectal(325;3.46e-05)|all_lung(284;5.94e-05)|Lung NSC(340;7.26e-05)|Renal(390;0.0007)|Ovarian(437;0.00473)|Breast(348;0.00637)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0381) UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|OV - Ovarian serous cystadenocarcinoma(117;1.76e-26)|Colorectal(126;1.38e-08)|COAD - Colon adenocarcinoma(152;9.31e-07)|KIRC - Kidney renal clear cell carcinoma(1967;0.000751)|BRCA - Breast invasive adenocarcinoma(304;0.00099)|STAD - Stomach adenocarcinoma(196;0.00151)|GBM - Glioblastoma multiforme(114;0.00793)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.159)|LUSC - Lung squamous cell carcinoma(448;0.233) GGAACTCAATGGGACCCGCTT 0.587000 47 124 0 0 0.000147903 0 0 SLC30A8 169026 broad.mit.edu 37 8 118184820 118184820 + Missense_Mutation SNP C C T TCGA-D3-A2JL-06A-11D-A196-08 TCGA-D3-A2JL-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 06d6341f-cb6d-4a7e-9213-c7bb394aca56 bf91785e-7b33-4bd0-8ff5-c20c20b4e985 g.chr8:118184820C>T ENST00000427715.2 + 11 1297 c.863C>T c.(862-864)gCc>gTc p.A288V SLC30A8_ENST00000521243.1_Missense_Mutation_p.A288V|SLC30A8_ENST00000456015.2_Missense_Mutation_p.A337V|SLC30A8_ENST00000519688.1_Missense_Mutation_p.A288V NM_001172813.1|NM_001172815.1 NP_001166284.1|NP_001166286.1 Q8IWU4 ZNT8_HUMAN solute carrier family 30 (zinc transporter), member 8 337 insulin secretion|positive regulation of insulin secretion|regulation of sequestering of zinc ion|regulation of vesicle-mediated transport|response to glucose stimulus|sequestering of zinc ion integral to membrane|plasma membrane|secretory granule membrane|transport vesicle membrane protein homodimerization activity|zinc ion transmembrane transporter activity breast(1)|endometrium(2)|large_intestine(9)|liver(2)|lung(18)|ovary(2)|pancreas(2)|skin(5) 41 all_cancers(13;2.11e-22)|Lung NSC(37;6.08e-05)|Ovarian(258;0.0173) STAD - Stomach adenocarcinoma(47;0.203) ATTGCTAAAGCCCTTAGCAAA 0.512000 7 26 0 0 2.17888e-05 0 0 ESYT3 83850 broad.mit.edu 37 3 138170908 138170908 + Missense_Mutation SNP G G A TCGA-D3-A2JL-06A-11D-A196-08 TCGA-D3-A2JL-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 06d6341f-cb6d-4a7e-9213-c7bb394aca56 bf91785e-7b33-4bd0-8ff5-c20c20b4e985 g.chr3:138170908G>A ENST00000389567.4 + 2 532 c.346G>A c.(346-348)Gag>Aag p.E116K ESYT3_ENST00000289135.4_Missense_Mutation_p.E116K NM_031913.3 NP_114119.2 A0FGR9 ESYT3_HUMAN extended synaptotagmin-like protein 3 116 integral to membrane|plasma membrane breast(1)|endometrium(5)|large_intestine(7)|lung(9)|prostate(1)|skin(1)|urinary_tract(1) 25 CCCGGACGTGGAGCGGGTCGA 0.672000 44 210 0 0 0.000147903 0 0 ZDBF2 57683 broad.mit.edu 37 2 207174295 207174295 + Silent SNP G G A TCGA-D3-A2JL-06A-11D-A196-08 TCGA-D3-A2JL-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 06d6341f-cb6d-4a7e-9213-c7bb394aca56 bf91785e-7b33-4bd0-8ff5-c20c20b4e985 g.chr2:207174295G>A ENST00000374423.3 + 5 5429 c.5043G>A c.(5041-5043)caG>caA p.Q1681Q NM_020923.1 NP_065974.1 Q9HCK1 ZDBF2_HUMAN zinc finger, DBF-type containing 2 1681 nucleic acid binding|zinc ion binding endometrium(4)|kidney(5)|large_intestine(28)|lung(50)|ovary(4)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 95 ACCGACTGCAGAAAGCTCACA 0.413000 7 31 0 0 0.000157383 0 0 LRP2 4036 broad.mit.edu 37 2 170031750 170031750 + Missense_Mutation SNP G G T TCGA-D3-A2JL-06A-11D-A196-08 TCGA-D3-A2JL-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 06d6341f-cb6d-4a7e-9213-c7bb394aca56 bf91785e-7b33-4bd0-8ff5-c20c20b4e985 g.chr2:170031750G>T ENST00000263816.3 - 55 11006 c.10721C>A c.(10720-10722)gCt>gAt p.A3574D NM_004525.2 NP_004516.2 P98164 LRP2_HUMAN low density lipoprotein receptor-related protein 2 3574 LDL-receptor class A 27. hormone biosynthetic process|protein glycosylation|receptor-mediated endocytosis|vitamin D metabolic process coated pit|integral to membrane|lysosome calcium ion binding|receptor activity|SH3 domain binding biliary_tract(1)|breast(16)|central_nervous_system(6)|cervix(2)|endometrium(24)|haematopoietic_and_lymphoid_tissue(2)|kidney(17)|large_intestine(70)|liver(1)|lung(117)|ovary(19)|pancreas(1)|prostate(2)|skin(17)|upper_aerodigestive_tract(7)|urinary_tract(13) 315 STAD - Stomach adenocarcinoma(1183;0.000766)|COAD - Colon adenocarcinoma(177;0.0101) Gentamicin(DB00798)|Insulin Glargine recombinant(DB00047)|Insulin Lyspro recombinant(DB00046)|Insulin recombinant(DB00030)|Insulin, porcine(DB00071)|Urokinase(DB00013) ATTTTGGTGAGCATTGCATAA 0.517000 15 73 4.63292e-17 1.20366e-15 0.000132079 1 0 DMBT1 1755 broad.mit.edu 37 10 124350197 124350197 + Silent SNP G G A TCGA-D3-A2JL-06A-11D-A196-08 TCGA-D3-A2JL-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 06d6341f-cb6d-4a7e-9213-c7bb394aca56 bf91785e-7b33-4bd0-8ff5-c20c20b4e985 g.chr10:124350197G>A ENST00000368909.3 + 18 2230 c.2124G>A c.(2122-2124)tcG>tcA p.S708S DMBT1_ENST00000368956.2_Intron|DMBT1_ENST00000368955.3_Silent_p.S698S|DMBT1_ENST00000359586.6_Intron|DMBT1_ENST00000344338.3_Silent_p.S698S|DMBT1_ENST00000338354.3_Silent_p.S708S|DMBT1_ENST00000330163.4_Intron NM_007329.2 NP_015568.2 Q9UGM3 DMBT1_HUMAN deleted in malignant brain tumors 1 708 epithelial cell differentiation|induction of bacterial agglutination|innate immune response|interspecies interaction between organisms|protein transport|response to virus extrinsic to membrane|phagocytic vesicle membrane|zymogen granule membrane calcium-dependent protein binding|Gram-negative bacterial cell surface binding|Gram-positive bacterial cell surface binding|pattern recognition receptor activity|scavenger receptor activity|zymogen binding breast(2)|central_nervous_system(7)|cervix(3)|endometrium(8)|kidney(1)|large_intestine(1)|lung(46)|prostate(1)|urinary_tract(3) 72 all_neural(114;0.0765)|Lung NSC(174;0.132)|all_lung(145;0.163)|Breast(234;0.238) AGTCCCGGTCGACGCCCAGGC 0.507000 142 254 0 0 0.000147903 0 0 ANK1 286 broad.mit.edu 37 8 41585483 41585483 + Silent SNP C C T TCGA-D3-A2JL-06A-11D-A196-08 TCGA-D3-A2JL-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 06d6341f-cb6d-4a7e-9213-c7bb394aca56 bf91785e-7b33-4bd0-8ff5-c20c20b4e985 g.chr8:41585483C>T ENST00000396942.1 - 4 353 c.270G>A c.(268-270)caG>caA p.Q90Q ANK1_ENST00000289734.7_Silent_p.Q90Q|ANK1_ENST00000379758.2_Silent_p.Q90Q|ANK1_ENST00000352337.4_Silent_p.Q90Q|ANK1_ENST00000347528.4_Silent_p.Q90Q|ANK1_ENST00000265709.8_Silent_p.Q123Q|ANK1_ENST00000396945.1_Silent_p.Q90Q P16157 ANK1_HUMAN ankyrin 1, erythrocytic 90 89 kDa domain. axon guidance|cytoskeleton organization|exocytosis|maintenance of epithelial cell apical/basal polarity|signal transduction basolateral plasma membrane|cytosol|sarcomere|sarcoplasmic reticulum|spectrin-associated cytoskeleton cytoskeletal adaptor activity|enzyme binding|protein binding|spectrin binding|structural constituent of cytoskeleton breast(5)|central_nervous_system(4)|endometrium(9)|kidney(1)|large_intestine(26)|lung(62)|ovary(3)|prostate(5)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(3) 122 Ovarian(28;0.00541)|Colorectal(14;0.0398)|Lung SC(25;0.211) all_lung(54;0.000626)|Lung NSC(58;0.00245)|Esophageal squamous(32;0.0559)|Hepatocellular(245;0.0663)|Renal(179;0.188) OV - Ovarian serous cystadenocarcinoma(14;0.000984)|Lung(22;0.00108)|Colorectal(10;0.00245)|LUSC - Lung squamous cell carcinoma(45;0.00392)|COAD - Colon adenocarcinoma(11;0.0264) CCACCTCATCCTGCCCGGCTA 0.602000 23 41 0 0 0.000227799 0 0 SBNO1 55206 broad.mit.edu 37 12 123829915 123829915 + Missense_Mutation SNP G G A TCGA-D3-A2JL-06A-11D-A196-08 TCGA-D3-A2JL-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 06d6341f-cb6d-4a7e-9213-c7bb394aca56 bf91785e-7b33-4bd0-8ff5-c20c20b4e985 g.chr12:123829915G>A ENST00000420886.2 - 3 439 c.440C>T c.(439-441)cCt>cTt p.P147L SBNO1_ENST00000602750.1_Missense_Mutation_p.P146L|SBNO1_ENST00000602398.1_Missense_Mutation_p.P147L|SBNO1_ENST00000267176.4_Missense_Mutation_p.P146L NM_001167856.1 NP_001161328.1 A3KN83 SBNO1_HUMAN strawberry notch homolog 1 (Drosophila) 147 ATP binding|DNA binding|hydrolase activity NS(2)|breast(6)|cervix(2)|endometrium(8)|kidney(3)|large_intestine(11)|lung(18)|ovary(2)|pancreas(1)|prostate(3)|skin(4)|stomach(2) 62 all_neural(191;0.101)|Medulloblastoma(191;0.163) OV - Ovarian serous cystadenocarcinoma(86;0.000701)|Epithelial(86;0.00197) GTCTTTTGAAGGTGCAGAGGT 0.418000 47 106 0 0 0.000147903 0 0 SLC12A6 9990 broad.mit.edu 37 15 34542930 34542930 + Splice_Site SNP C C T TCGA-D3-A2JL-06A-11D-A196-08 TCGA-D3-A2JL-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 06d6341f-cb6d-4a7e-9213-c7bb394aca56 bf91785e-7b33-4bd0-8ff5-c20c20b4e985 g.chr15:34542930C>T ENST00000354181.3 - 12 1985 c.1492_splice c.e12-1 p.G498_splice SLC12A6_ENST00000560611.1_Splice_Site_p.G498_splice|SLC12A6_ENST00000558589.1_Splice_Site_p.G489_splice|SLC12A6_ENST00000558667.1_Splice_Site_p.G498_splice|SLC12A6_ENST00000451844.2_Splice_Site_p.G310_splice|SLC12A6_ENST00000458406.2_Splice_Site_p.G439_splice|SLC12A6_ENST00000397702.2_Splice_Site_p.G439_splice|SLC12A6_ENST00000397707.2_Splice_Site_p.G483_splice|SLC12A6_ENST00000560164.1_Splice_Site_p.G310_splice|SLC12A6_ENST00000290209.5_Splice_Site_p.G447_splice Q9UHW9 S12A6_HUMAN solute carrier family 12 (potassium/chloride transporter), member 6 498 angiogenesis|cellular hypotonic salinity response|potassium ion transport|sodium ion transport basolateral plasma membrane|integral to membrane potassium:chloride symporter activity central_nervous_system(5)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(8)|lung(17)|ovary(4)|skin(3) 45 all_lung(180;2.78e-08) all cancers(64;3.43e-17)|GBM - Glioblastoma multiforme(113;2.6e-07)|BRCA - Breast invasive adenocarcinoma(123;0.0301) Potassium Chloride(DB00761) AGCCATGATACCTTTAGAGAT 0.403000 12 35 0 0 0.000151284 0 0 SULT1B1 27284 broad.mit.edu 37 4 70599213 70599213 + Missense_Mutation SNP G G A TCGA-D3-A2JL-06A-11D-A196-08 TCGA-D3-A2JL-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 06d6341f-cb6d-4a7e-9213-c7bb394aca56 bf91785e-7b33-4bd0-8ff5-c20c20b4e985 g.chr4:70599213G>A ENST00000310613.2 - 6 812 c.515C>T c.(514-516)tCc>tTc p.S172F NM_014465.3 NP_055280.2 O43704 ST1B1_HUMAN sulfotransferase family, cytosolic, 1B, member 1 172 3'-phosphoadenosine 5'-phosphosulfate metabolic process|cellular biogenic amine metabolic process|flavonoid metabolic process|steroid metabolic process|sulfation|thyroid hormone metabolic process|xenobiotic metabolic process cytosol breast(1)|cervix(1)|endometrium(2)|large_intestine(4)|lung(14)|prostate(1)|upper_aerodigestive_tract(1) 24 AGTAAACCAGGAACCATAGGC 0.294000 51 93 0 0 0.000147903 0 0 HEATR1 55127 broad.mit.edu 37 1 236720519 236720519 + Silent SNP G G A TCGA-D3-A2JL-06A-11D-A196-08 TCGA-D3-A2JL-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 06d6341f-cb6d-4a7e-9213-c7bb394aca56 bf91785e-7b33-4bd0-8ff5-c20c20b4e985 g.chr1:236720519G>A ENST00000366582.3 - 37 5445 c.5331C>T c.(5329-5331)ccC>ccT p.P1777P HEATR1_ENST00000366581.2_Silent_p.P1696P NM_018072.5 NP_060542.4 Q9H583 HEAT1_HUMAN HEAT repeat containing 1 1777 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) CTTCCAGATAGGGGCTGATGA 0.542000 6 19 0 0 0.000274275 0 0 OR5D14 219436 broad.mit.edu 37 11 55563485 55563485 + Missense_Mutation SNP C C T rs138241507 TCGA-D3-A2JL-06A-11D-A196-08 TCGA-D3-A2JL-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 06d6341f-cb6d-4a7e-9213-c7bb394aca56 bf91785e-7b33-4bd0-8ff5-c20c20b4e985 g.chr11:55563485C>T ENST00000335605.1 + 1 454 c.454C>T c.(454-456)Ctc>Ttc p.L152F NM_001004735.1 NP_001004735.1 Q8NGL3 OR5DE_HUMAN olfactory receptor, family 5, subfamily D, member 14 152 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(30)|ovary(2)|prostate(1)|skin(2)|stomach(3)|urinary_tract(1) 48 all_epithelial(135;0.196) TGGGTCATATCTCTGGGGCAT 0.498000 4 17 0 0 0.00024832 0 0 NAP1L2 4674 broad.mit.edu 37 X 72434266 72434266 + Silent SNP C C T TCGA-D3-A2JL-06A-11D-A196-08 TCGA-D3-A2JL-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 06d6341f-cb6d-4a7e-9213-c7bb394aca56 bf91785e-7b33-4bd0-8ff5-c20c20b4e985 g.chrX:72434266C>T ENST00000373517.3 - 1 418 c.63G>A c.(61-63)caG>caA p.Q21Q NAP1L2_ENST00000536638.1_Intron NM_021963.3 NP_068798.1 Q9ULW6 NP1L2_HUMAN nucleosome assembly protein 1-like 2 21 nucleosome assembly chromatin assembly complex NS(1)|breast(2)|endometrium(2)|kidney(3)|large_intestine(6)|lung(12)|skin(3) 29 Renal(35;0.156) CCACCATTATCTGATTACCAG 0.567000 40 81 0 0 0.000106405 0 0 CDH10 1008 broad.mit.edu 37 5 24488092 24488092 + Missense_Mutation SNP C C T TCGA-D3-A2JL-06A-11D-A196-08 TCGA-D3-A2JL-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 06d6341f-cb6d-4a7e-9213-c7bb394aca56 bf91785e-7b33-4bd0-8ff5-c20c20b4e985 g.chr5:24488092C>T ENST00000264463.4 - 12 2554 c.2047G>A c.(2047-2049)Gaa>Aaa p.E683K CDH10_ENST00000502921.1_5'UTR NM_006727.3 NP_006718.2 Q9Y6N8 CAD10_HUMAN cadherin 10, type 2 (T2-cadherin) 683 adherens junction organization|cell junction assembly|homophilic cell adhesion integral to membrane|plasma membrane calcium ion binding NS(1)|breast(8)|central_nervous_system(2)|cervix(1)|endometrium(9)|kidney(2)|large_intestine(29)|lung(111)|ovary(6)|pancreas(6)|skin(4)|stomach(2)|upper_aerodigestive_tract(4) 185 STAD - Stomach adenocarcinoma(35;0.0556) AGCTTTTTTTCCTCAATGGCT 0.478000 HNSCC(23;0.051) 7 17 0 0 0.000274275 0 0 SLC28A1 9154 broad.mit.edu 37 15 85438173 85438173 + Missense_Mutation SNP C C T TCGA-D3-A2JL-06A-11D-A196-08 TCGA-D3-A2JL-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 06d6341f-cb6d-4a7e-9213-c7bb394aca56 bf91785e-7b33-4bd0-8ff5-c20c20b4e985 g.chr15:85438173C>T ENST00000394573.1 + 6 482 c.280C>T c.(280-282)Ctc>Ttc p.L94F SLC28A1_ENST00000537703.1_Missense_Mutation_p.L16F|SLC28A1_ENST00000537216.1_Missense_Mutation_p.L94F|SLC28A1_ENST00000286749.3_Missense_Mutation_p.L94F|SLC28A1_ENST00000538177.1_Missense_Mutation_p.L94F|SLC28A1_ENST00000338602.2_Missense_Mutation_p.L94F|SLC28A1_ENST00000537624.1_Missense_Mutation_p.L94F NM_004213.3 NP_004204.3 O00337 S28A1_HUMAN solute carrier family 28 (concentrative nucleoside transporter), member 1 94 nucleobase, nucleoside and nucleotide metabolic process integral to plasma membrane|membrane fraction nucleoside binding breast(2)|endometrium(4)|kidney(2)|large_intestine(4)|lung(17)|ovary(1)|prostate(4)|skin(3)|stomach(3)|upper_aerodigestive_tract(1) 41 BRCA - Breast invasive adenocarcinoma(143;0.0587) TCCCCCAGGGCTCTCTGCCTT 0.647000 26 87 0 0 8.91981e-05 0 0 JSRP1 126306 broad.mit.edu 37 19 2252666 2252666 + Missense_Mutation SNP C C T TCGA-D3-A2JL-06A-11D-A196-08 TCGA-D3-A2JL-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 06d6341f-cb6d-4a7e-9213-c7bb394aca56 bf91785e-7b33-4bd0-8ff5-c20c20b4e985 g.chr19:2252666C>T ENST00000300961.5 - 7 722 c.658G>A c.(658-660)Gga>Aga p.G220R JSRP1_ENST00000586471.1_Missense_Mutation_p.G220R NM_144616.3 NP_653217.1 Q96MG2 JSPR1_HUMAN junctional sarcoplasmic reticulum protein 1 220 sarcoplasmic reticulum membrane haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(1)|pancreas(1)|urinary_tract(1) 6 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) ACGGCCTCTCCGGTGGCCTCG 0.711000 39 85 0 0 0.000374591 0 0 AZU1 566 broad.mit.edu 37 19 829624 829624 + Missense_Mutation SNP C C T TCGA-D3-A2JL-06A-11D-A196-08 TCGA-D3-A2JL-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 06d6341f-cb6d-4a7e-9213-c7bb394aca56 bf91785e-7b33-4bd0-8ff5-c20c20b4e985 g.chr19:829624C>T ENST00000233997.2 + 3 299 c.278C>T c.(277-279)tCc>tTc p.S93F NM_001700.3 NP_001691.1 P20160 CAP7_HUMAN azurocidin 1 93 Peptidase S1. activation of protein kinase C activity by G-protein coupled receptor protein signaling pathway|anti-apoptosis|cellular extravasation|defense response to Gram-negative bacterium|glial cell migration|induction of positive chemotaxis|inflammatory response|macrophage chemotaxis|microglial cell activation|monocyte activation|positive regulation of cell adhesion|positive regulation of fractalkine biosynthetic process|positive regulation of interleukin-1 beta biosynthetic process|positive regulation of MHC class II biosynthetic process|positive regulation of phagocytosis|positive regulation of tumor necrosis factor biosynthetic process|proteolysis|regulation of vascular permeability azurophil granule|extracellular region heparin binding|serine-type endopeptidase activity|toxin binding NS(1)|endometrium(1)|kidney(1)|lung(4)|pancreas(1)|upper_aerodigestive_tract(2) 10 Acute lymphoblastic leukemia(61;2.53e-14)|all_hematologic(61;8.18e-10)|Lung NSC(49;6.59e-06)|all_lung(49;9.97e-06)|Breast(49;0.000172)|Hepatocellular(1079;0.137)|Renal(1328;0.228) 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) GAGAGGCAGTCCCGCCAGACG 0.617000 13 60 0 0 0.000219431 0 0 OR2T4 127074 broad.mit.edu 37 1 248525516 248525516 + Missense_Mutation SNP G G A TCGA-D3-A2JL-06A-11D-A196-08 TCGA-D3-A2JL-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 06d6341f-cb6d-4a7e-9213-c7bb394aca56 bf91785e-7b33-4bd0-8ff5-c20c20b4e985 g.chr1:248525516G>A ENST00000366475.1 + 1 634 c.634G>A c.(634-636)Gaa>Aaa p.E212K NM_001004696.1 NP_001004696.1 Q8NH00 OR2T4_HUMAN olfactory receptor, family 2, subfamily T, member 4 212 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(3)|liver(2)|lung(47) 56 all_cancers(71;0.000108)|all_epithelial(71;1.03e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136) OV - Ovarian serous cystadenocarcinoma(106;0.0265) TTTCTTCTGTGAAGTTCCTGC 0.502000 25 23 0 0 5.49717e-05 0 0 NFATC4 4776 broad.mit.edu 37 14 24842431 24842431 + Missense_Mutation SNP G G A TCGA-D3-A2JL-06A-11D-A196-08 TCGA-D3-A2JL-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 06d6341f-cb6d-4a7e-9213-c7bb394aca56 bf91785e-7b33-4bd0-8ff5-c20c20b4e985 g.chr14:24842431G>A ENST00000413692.2 + 5 1747 c.1603G>A c.(1603-1605)Gat>Aat p.D535N NFATC4_ENST00000555167.1_Missense_Mutation_p.D7N|NFATC4_ENST00000554050.1_Missense_Mutation_p.D472N|NFATC4_ENST00000553708.1_Missense_Mutation_p.D472N|NFATC4_ENST00000555590.1_Missense_Mutation_p.D485N|NFATC4_ENST00000539237.2_Missense_Mutation_p.D504N|NFATC4_ENST00000554661.1_Missense_Mutation_p.D402N|NFATC4_ENST00000424781.2_Missense_Mutation_p.D485N|NFATC4_ENST00000554473.1_Missense_Mutation_p.D7N|NFATC4_ENST00000250373.4_Missense_Mutation_p.D472N|NFATC4_ENST00000554344.1_Missense_Mutation_p.D402N|NFATC4_ENST00000556759.1_Missense_Mutation_p.D7N|NFATC4_ENST00000553879.1_Missense_Mutation_p.D402N|NFATC4_ENST00000556279.1_Missense_Mutation_p.D504N|NFATC4_ENST00000553469.1_Missense_Mutation_p.D504N|NFATC4_ENST00000554591.1_Missense_Mutation_p.D535N|NFATC4_ENST00000556169.1_Missense_Mutation_p.D460N|NFATC4_ENST00000557451.1_Missense_Mutation_p.D402N|NFATC4_ENST00000555453.1_Missense_Mutation_p.D460N|NFATC4_ENST00000554966.1_Missense_Mutation_p.D485N|NFATC4_ENST00000422617.3_Missense_Mutation_p.D460N NM_001136022.1|NM_001198967.1 NP_001129494.1|NP_001185896.1 Q14934 NFAC4_HUMAN nuclear factor of activated T-cells, cytoplasmic, calcineurin-dependent 4 472 RHD. cell differentiation|inflammatory response|transcription from RNA polymerase II promoter cytoplasm|intermediate filament cytoskeleton|nucleus DNA binding|sequence-specific DNA binding transcription factor activity|transcription coactivator activity breast(2)|central_nervous_system(1)|endometrium(1)|kidney(4)|large_intestine(7)|liver(4)|lung(12)|ovary(1)|skin(2) 34 GBM - Glioblastoma multiforme(265;0.018) CGGCACTGCAGATGAAAGGAA 0.567000 44 58 0 0 0.000147903 0 0 DNAH8 1769 broad.mit.edu 37 6 38781865 38781865 + Missense_Mutation SNP C C T TCGA-D3-A2JL-06A-11D-A196-08 TCGA-D3-A2JL-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 06d6341f-cb6d-4a7e-9213-c7bb394aca56 bf91785e-7b33-4bd0-8ff5-c20c20b4e985 g.chr6:38781865C>T ENST00000359357.3 + 23 2896 c.2642C>T c.(2641-2643)tCc>tTc p.S881F DNAH8_ENST00000449981.2_Missense_Mutation_p.S1098F|DNAH8_ENST00000441566.1_Missense_Mutation_p.S881F dynein, axonemal, heavy chain 8 NS(7)|breast(9)|central_nervous_system(4)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(3)|kidney(16)|large_intestine(44)|liver(4)|lung(101)|ovary(7)|pancreas(2)|prostate(8)|skin(28)|stomach(4)|upper_aerodigestive_tract(6)|urinary_tract(4) 260 GATATTATTTCCTTTATAAAA 0.313000 9 54 0 0 6.40141e-05 0 0 SLC35G3 146861 broad.mit.edu 37 17 33520358 33520358 + Silent SNP A A G rs74740601 by1000genomes TCGA-D3-A2JL-06A-11D-A196-08 TCGA-D3-A2JL-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 06d6341f-cb6d-4a7e-9213-c7bb394aca56 bf91785e-7b33-4bd0-8ff5-c20c20b4e985 g.chr17:33520358A>G ENST00000297307.5 - 1 1054 c.969T>C c.(967-969)atT>atC p.I323I NM_152462.2 NP_689675.1 Q8N808 AMAC1_HUMAN solute carrier family 35, member G3 323 DUF6 2. integral to membrane p.I323I(1) TCTGGGCTGTAATGATGGCAA 0.547000 5 126 0 0 3.59834e-05 0 0 KIAA1210 57481 broad.mit.edu 37 X 118222375 118222375 + Missense_Mutation SNP C C T TCGA-D3-A2JL-06A-11D-A196-08 TCGA-D3-A2JL-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 06d6341f-cb6d-4a7e-9213-c7bb394aca56 bf91785e-7b33-4bd0-8ff5-c20c20b4e985 g.chrX:118222375C>T ENST00000402510.2 - 11 2817 c.2818G>A c.(2818-2820)Gat>Aat p.D940N NM_020721.1 NP_065772.1 Q9ULL0 K1210_HUMAN KIAA1210 940 breast(3)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|lung(31)|ovary(4)|prostate(2)|skin(3)|stomach(1)|urinary_tract(1) 64 TCCACGGAATCGCTCTGTTTT 0.512000 6 27 0 0 8.12818e-05 0 0 LAMA2 3908 broad.mit.edu 37 6 129649516 129649516 + Missense_Mutation SNP G G A TCGA-D3-A2JL-06A-11D-A196-08 TCGA-D3-A2JL-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 06d6341f-cb6d-4a7e-9213-c7bb394aca56 bf91785e-7b33-4bd0-8ff5-c20c20b4e985 g.chr6:129649516G>A ENST00000421865.2 + 29 4319 c.4270G>A c.(4270-4272)Gga>Aga p.G1424R NM_000426.3|NM_001079823.1 NP_000417.2|NP_001073291.1 P24043 LAMA2_HUMAN laminin, alpha 2 1424 Laminin EGF-like 15. cell adhesion|muscle organ development|regulation of cell adhesion|regulation of cell migration|regulation of embryonic development laminin-1 complex receptor binding|structural molecule activity NS(2)|biliary_tract(2)|breast(10)|central_nervous_system(1)|endometrium(18)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(35)|lung(84)|ovary(10)|prostate(4)|skin(9)|stomach(1)|upper_aerodigestive_tract(7)|urinary_tract(2) 194 OV - Ovarian serous cystadenocarcinoma(136;0.178)|all cancers(137;0.245) TCAATGTAATGGACACAGCAG 0.527000 10 22 0 0 2.17888e-05 0 0 RBM46 166863 broad.mit.edu 37 4 155720135 155720135 + Missense_Mutation SNP C C T TCGA-D3-A2JL-06A-11D-A196-08 TCGA-D3-A2JL-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 06d6341f-cb6d-4a7e-9213-c7bb394aca56 bf91785e-7b33-4bd0-8ff5-c20c20b4e985 g.chr4:155720135C>T ENST00000510397.1 + 4 1000 c.821C>T c.(820-822)gCt>gTt p.A274V RBM46_ENST00000281722.3_Missense_Mutation_p.A274V|RBM46_ENST00000514866.1_Missense_Mutation_p.A274V NM_001277173.1 NP_001264102.1 Q8TBY0 RBM46_HUMAN RNA binding motif protein 46 274 RRM 3. nucleotide binding|RNA binding central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|lung(7)|skin(3)|urinary_tract(2) 26 all_hematologic(180;0.24) Renal(120;0.0854) AGAGATTATGCTTTTGTTCAC 0.358000 12 21 0 0 0.00010058 0 0 SORCS3 22986 broad.mit.edu 37 10 106924131 106924131 + Nonsense_Mutation SNP G G A TCGA-D3-A2JL-06A-11D-A196-08 TCGA-D3-A2JL-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 06d6341f-cb6d-4a7e-9213-c7bb394aca56 bf91785e-7b33-4bd0-8ff5-c20c20b4e985 g.chr10:106924131G>A ENST00000369701.3 + 12 2030 c.1803G>A c.(1801-1803)tgG>tgA p.W601* NM_014978.1 NP_055793.1 Q9UPU3 SORC3_HUMAN sortilin-related VPS10 domain containing receptor 3 601 integral to membrane neuropeptide receptor activity autonomic_ganglia(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(19)|lung(63)|ovary(6)|pancreas(1)|prostate(6)|skin(8)|stomach(3)|upper_aerodigestive_tract(3)|urinary_tract(2) 131 Colorectal(252;0.134)|Breast(234;0.142)|Lung NSC(174;0.191) Epithelial(162;1.58e-07)|all cancers(201;1.02e-05)|BRCA - Breast invasive adenocarcinoma(275;0.0628) GCAACACATGGAGACAGGTAA 0.443000 5 7 0 0 3.59834e-05 0 0 GYS2 2998 broad.mit.edu 37 12 21716251 21716251 + Silent SNP A A G TCGA-D3-A2JL-06A-11D-A196-08 TCGA-D3-A2JL-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 06d6341f-cb6d-4a7e-9213-c7bb394aca56 bf91785e-7b33-4bd0-8ff5-c20c20b4e985 g.chr12:21716251A>G ENST00000261195.2 - 6 1106 c.852T>C c.(850-852)gtT>gtC p.V284V NM_021957.3 NP_068776.2 P54840 GYS2_HUMAN glycogen synthase 2 (liver) 284 glucose metabolic process|glycogen biosynthetic process|response to glucose stimulus cortical actin cytoskeleton|cytosol|ectoplasm|insoluble fraction|soluble fraction glycogen (starch) synthase activity|protein homodimerization activity NS(1)|breast(2)|endometrium(5)|kidney(1)|large_intestine(14)|lung(14)|prostate(6)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1) 48 AAAATTTCTTAACATTCAAGC 0.338000 37 58 0 0 0.000132358 0 0 ADAMTS10 81794 broad.mit.edu 37 19 8665993 8665993 + Missense_Mutation SNP C C G TCGA-D3-A2JL-06A-11D-A196-08 TCGA-D3-A2JL-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 06d6341f-cb6d-4a7e-9213-c7bb394aca56 bf91785e-7b33-4bd0-8ff5-c20c20b4e985 g.chr19:8665993C>G ENST00000270328.4 - 5 895 c.629G>C c.(628-630)cGg>cCg p.R210P ADAMTS10_ENST00000596709.1_5'UTR|ADAMTS10_ENST00000597188.1_Missense_Mutation_p.R210P Q9H324 ATS10_HUMAN ADAM metallopeptidase with thrombospondin type 1 motif, 10 210 proteolysis proteinaceous extracellular matrix metalloendopeptidase activity|zinc ion binding NS(1)|autonomic_ganglia(1)|breast(2)|endometrium(2)|kidney(16)|large_intestine(5)|lung(9)|ovary(1)|pancreas(2)|prostate(3)|skin(10)|urinary_tract(1) 53 CTTCAAGGTCCGCAGCCACCA 0.637000 12 36 0 0 0.000422831 0 0 TNRC18 84629 broad.mit.edu 37 7 5427351 5427351 + Missense_Mutation SNP G G A TCGA-D3-A2JL-06A-11D-A196-08 TCGA-D3-A2JL-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 06d6341f-cb6d-4a7e-9213-c7bb394aca56 bf91785e-7b33-4bd0-8ff5-c20c20b4e985 g.chr7:5427351G>A ENST00000399537.4 - 5 2452 c.2104C>T c.(2104-2106)Cct>Tct p.P702S TNRC18_ENST00000430969.1_Missense_Mutation_p.P702S O15417 TNC18_HUMAN trinucleotide repeat containing 18 702 DNA binding central_nervous_system(1)|endometrium(1)|large_intestine(1)|lung(8) 11 Ovarian(82;0.142) UCEC - Uterine corpus endometrioid carcinoma (126;0.195)|OV - Ovarian serous cystadenocarcinoma(56;5.32e-15) ACCAGCCCAGGCCCCAGCCGG 0.662000 17 82 0 0 5.49717e-05 0 0 NAALAD2 10003 broad.mit.edu 37 11 89891349 89891349 + Missense_Mutation SNP G G A TCGA-D3-A2JL-06A-11D-A196-08 TCGA-D3-A2JL-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 06d6341f-cb6d-4a7e-9213-c7bb394aca56 bf91785e-7b33-4bd0-8ff5-c20c20b4e985 g.chr11:89891349G>A ENST00000534061.1 + 7 1063 c.833G>A c.(832-834)gGa>gAa p.G278E NAALAD2_ENST00000525171.1_Intron|NAALAD2_ENST00000321955.4_Missense_Mutation_p.G278E|NAALAD2_ENST00000375944.3_Intron NM_005467.3 NP_005458.1 Q9Y3Q0 NALD2_HUMAN N-acetylated alpha-linked acidic dipeptidase 2 278 NAALADase. proteolysis integral to membrane carboxypeptidase activity|dipeptidase activity|dipeptidyl-peptidase activity|metal ion binding|metallopeptidase activity|serine-type peptidase activity NS(1)|breast(1)|endometrium(1)|kidney(1)|large_intestine(12)|lung(32)|pancreas(1)|prostate(3)|skin(5)|stomach(2) 59 Acute lymphoblastic leukemia(157;2.31e-05)|all_hematologic(158;0.00556) GAAGGAGTGGGAATCCCCCGA 0.318000 17 72 0 0 0.000175454 0 0 USP8 9101 broad.mit.edu 37 15 50733667 50733667 + Nonsense_Mutation SNP A A T rs148744702 TCGA-D3-A2JL-06A-11D-A196-08 TCGA-D3-A2JL-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 06d6341f-cb6d-4a7e-9213-c7bb394aca56 bf91785e-7b33-4bd0-8ff5-c20c20b4e985 g.chr15:50733667A>T ENST00000433963.1 + 4 726 c.226A>T c.(226-228)Aga>Tga p.R76* USP8_ENST00000558892.1_3'UTR|USP8_ENST00000396444.3_Nonsense_Mutation_p.R76*|USP8_ENST00000425032.3_Intron|USP8_ENST00000307179.4_Nonsense_Mutation_p.R76* NM_001128611.1 NP_001122083.1 P40818 UBP8_HUMAN ubiquitin specific peptidase 8 76 MIT. cell cycle|cell proliferation|endosome organization|protein K48-linked deubiquitination|protein K63-linked deubiquitination|ubiquitin-dependent protein catabolic process cytosol|early endosome|extrinsic to plasma membrane|nucleus cysteine-type endopeptidase activity|SH3 domain binding|ubiquitin thiolesterase activity|ubiquitin-specific protease activity central_nervous_system(2)|endometrium(2)|kidney(2)|large_intestine(5)|lung(16)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1) 35 all cancers(107;0.000225)|GBM - Glioblastoma multiforme(94;0.000771) TATCAAAAAAAGACCTGATTT 0.303000 15 32 0 0 0.000422831 0 0 FAM171A1 221061 broad.mit.edu 37 10 15255119 15255119 + Missense_Mutation SNP C C T TCGA-D3-A2JL-06A-11D-A196-08 TCGA-D3-A2JL-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 06d6341f-cb6d-4a7e-9213-c7bb394aca56 bf91785e-7b33-4bd0-8ff5-c20c20b4e985 g.chr10:15255119C>T ENST00000378116.4 - 8 2474 c.2468G>A c.(2467-2469)aGa>aAa p.R823K NM_001010924.1 NP_001010924.1 Q5VUB5 F1711_HUMAN family with sequence similarity 171, member A1 823 integral to membrane breast(6)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(9)|lung(20)|ovary(3)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(2) 52 GCCACCACTTCTCCGACTCGA 0.642000 25 64 0 0 5.49717e-05 0 0 MAGEE2 139599 broad.mit.edu 37 X 75004478 75004478 + Missense_Mutation SNP C C T TCGA-D3-A2JL-06A-11D-A196-08 TCGA-D3-A2JL-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 06d6341f-cb6d-4a7e-9213-c7bb394aca56 bf91785e-7b33-4bd0-8ff5-c20c20b4e985 g.chrX:75004478C>T ENST00000373359.2 - 1 601 c.409G>A c.(409-411)Gac>Aac p.D137N NM_138703.4 NP_619648.1 Q8TD90 MAGE2_HUMAN melanoma antigen family E, 2 137 MAGE 1. autonomic_ganglia(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(5)|lung(17)|ovary(1)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 34 AAGACCTGGTCCAGGTGAGCT 0.522000 5 8 0 0 1.23904e-05 0 0 KRT20 54474 broad.mit.edu 37 17 39036116 39036116 + Silent SNP C C T TCGA-D3-A2JL-06A-11D-A196-08 TCGA-D3-A2JL-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 06d6341f-cb6d-4a7e-9213-c7bb394aca56 bf91785e-7b33-4bd0-8ff5-c20c20b4e985 g.chr17:39036116C>T ENST00000167588.3 - 5 908 c.867G>A c.(865-867)ctG>ctA p.L289L NM_019010.2 NP_061883.1 P35900 K1C20_HUMAN keratin 20 289 Coil 2.|Rod. apoptosis|intermediate filament organization Golgi apparatus|intermediate filament protein binding|structural constituent of cytoskeleton NS(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(5)|skin(1) 14 Breast(137;0.000301)|Ovarian(249;0.15) AGGTGCGTCTCAGCTCCGTTA 0.428000 41 46 0 0 0.000147903 0 0 CXCL12 6387 broad.mit.edu 37 10 44871456 44871456 + Silent SNP C C T TCGA-D3-A2JL-06A-11D-A196-08 TCGA-D3-A2JL-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 06d6341f-cb6d-4a7e-9213-c7bb394aca56 bf91785e-7b33-4bd0-8ff5-c20c20b4e985 g.chr10:44871456C>T ENST00000374426.2 - 4 328 c.291G>A c.(289-291)ggG>ggA p.G97G CXCL12_ENST00000395793.3_Intron|CXCL12_ENST00000374429.2_Intron|CXCL12_ENST00000395795.4_Intron NM_001033886.2 NP_001029058.1 P48061 SDF1_HUMAN chemokine (C-X-C motif) ligand 12 0 blood circulation|cell adhesion|cellular calcium ion homeostasis|chemotaxis|G-protein coupled receptor protein signaling pathway|immune response|negative regulation of leukocyte apoptosis|positive regulation of monocyte chemotaxis|regulation of actin polymerization or depolymerization|response to virus extracellular space chemokine activity|growth factor activity|signal transducer activity endometrium(1)|large_intestine(1)|lung(3)|skin(1) 6 Dexamethasone(DB01234) TTTCTTTTTTCCCCACTTTTT 0.383000 57 385 0 0 0.000147903 0 0 OPN4 94233 broad.mit.edu 37 10 88419090 88419090 + Missense_Mutation SNP C C T TCGA-D3-A2JL-06A-11D-A196-08 TCGA-D3-A2JL-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 06d6341f-cb6d-4a7e-9213-c7bb394aca56 bf91785e-7b33-4bd0-8ff5-c20c20b4e985 g.chr10:88419090C>T ENST00000372071.2 + 6 925 c.698C>T c.(697-699)tCc>tTc p.S233F OPN4_ENST00000241891.5_Missense_Mutation_p.S222F NM_001030015.2 NP_001025186.1 Q9UHM6 OPN4_HUMAN opsin 4 222 phototransduction|protein-chromophore linkage|regulation of circadian rhythm|rhythmic process|visual perception integral to membrane|plasma membrane 11-cis retinal binding|G-protein coupled photoreceptor activity breast(1)|endometrium(3)|kidney(2)|large_intestine(2)|liver(2)|lung(5)|ovary(3) 18 ACATCCTGCTCCTGGGACTAC 0.612000 16 80 0 0 0.000308642 0 0 RAI2 10742 broad.mit.edu 37 X 17819465 17819465 + Silent SNP G G A TCGA-D3-A2JL-06A-11D-A196-08 TCGA-D3-A2JL-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 06d6341f-cb6d-4a7e-9213-c7bb394aca56 bf91785e-7b33-4bd0-8ff5-c20c20b4e985 g.chrX:17819465G>A ENST00000545871.1 - 3 1126 c.666C>T c.(664-666)tcC>tcT p.S222S RAI2_ENST00000360011.1_Silent_p.S222S|RAI2_ENST00000451717.1_Silent_p.S222S|RAI2_ENST00000415486.3_Silent_p.S172S|RAI2_ENST00000331511.1_Silent_p.S222S NM_001172739.1|NM_001172743.1 NP_001166210.1|NP_001166214.1 Q9Y5P3 RAI2_HUMAN retinoic acid induced 2 222 Pro-rich. embryo development breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(4)|lung(7)|ovary(1)|pancreas(1)|prostate(1) 22 Hepatocellular(33;0.183) GGACCAGGGGGGACAAGGGGG 0.622000 10 39 0 0 2.17888e-05 0 0 ABCA12 26154 broad.mit.edu 37 2 215890504 215890504 + Splice_Site SNP C C T TCGA-D3-A2JL-06A-11D-A196-08 TCGA-D3-A2JL-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 06d6341f-cb6d-4a7e-9213-c7bb394aca56 bf91785e-7b33-4bd0-8ff5-c20c20b4e985 g.chr2:215890504C>T ENST00000272895.7 - 11 1400 c.e11-1 AC072062.3_ENST00000437897.3_RNA|ABCA12_ENST00000389661.4_Splice_Site NM_173076.2 NP_775099.2 Q86UK0 ABCAC_HUMAN ATP-binding cassette, sub-family A (ABC1), member 12 cellular homeostasis|lipid transport integral to membrane ATP binding|ATPase activity NS(3)|breast(5)|central_nervous_system(2)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(45)|lung(44)|ovary(8)|pancreas(2)|prostate(4)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1) 139 Renal(323;0.127) Epithelial(149;1.01e-05)|all cancers(144;0.00112)|LUSC - Lung squamous cell carcinoma(224;0.00829)|Lung(261;0.011) CTTAGATTTTCTGTAAAGGAA 0.358000 30 60 0 0 0.000227799 0 0 ZNF341 84905 broad.mit.edu 37 20 32369172 32369172 + Silent SNP C C T TCGA-D3-A2JL-06A-11D-A196-08 TCGA-D3-A2JL-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 06d6341f-cb6d-4a7e-9213-c7bb394aca56 bf91785e-7b33-4bd0-8ff5-c20c20b4e985 g.chr20:32369172C>T ENST00000375200.1 + 11 2063 c.1698C>T c.(1696-1698)ttC>ttT p.F566F ZNF341_ENST00000342427.2_Silent_p.F559F Q9BYN7 ZN341_HUMAN zinc finger protein 341 566 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding NS(1)|breast(1)|central_nervous_system(2)|endometrium(3)|kidney(4)|large_intestine(3)|lung(8)|ovary(2)|prostate(3)|skin(1)|urinary_tract(3) 31 CTCACAACTTCCCCTGCCCAC 0.577000 37 65 0 0 0.000228196 0 0 CDH8 1006 broad.mit.edu 37 16 61854894 61854894 + Missense_Mutation SNP C C T TCGA-D3-A2JL-06A-11D-A196-08 TCGA-D3-A2JL-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 06d6341f-cb6d-4a7e-9213-c7bb394aca56 bf91785e-7b33-4bd0-8ff5-c20c20b4e985 g.chr16:61854894C>T ENST00000577390.1 - 6 1913 c.959G>A c.(958-960)gGa>gAa p.G320E CDH8_ENST00000584337.1_Missense_Mutation_p.G320E|CDH8_ENST00000299345.6_Missense_Mutation_p.G320E|CDH8_ENST00000577730.1_Missense_Mutation_p.G320E NM_001796.4 NP_001787.2 P55286 CADH8_HUMAN cadherin 8, type 2 320 Cadherin 3. adherens junction organization|cell junction assembly|homophilic cell adhesion integral to membrane|plasma membrane calcium ion binding biliary_tract(1)|breast(3)|cervix(1)|endometrium(7)|kidney(6)|large_intestine(22)|liver(2)|lung(49)|ovary(6)|pancreas(2)|prostate(5)|skin(4)|urinary_tract(4) 112 Ovarian(137;0.0799)|Melanoma(118;0.16) UCEC - Uterine corpus endometrioid carcinoma (183;0.196)|Epithelial(162;0.0155)|all cancers(182;0.0305)|OV - Ovarian serous cystadenocarcinoma(108;0.0499)|BRCA - Breast invasive adenocarcinoma(181;0.249) AAGTGCTGTTCCATCTCCATC 0.408000 4 5 0 0 0.00024832 0 0 MUC6 4588 broad.mit.edu 37 11 1019477 1019477 + Silent SNP C C T TCGA-D3-A2JL-06A-11D-A196-08 TCGA-D3-A2JL-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 06d6341f-cb6d-4a7e-9213-c7bb394aca56 bf91785e-7b33-4bd0-8ff5-c20c20b4e985 g.chr11:1019477C>T ENST00000421673.2 - 30 3878 c.3828G>A c.(3826-3828)acG>acA p.T1276T NM_005961.2 NP_005952.2 Q6W4X9 MUC6_HUMAN mucin 6, oligomeric mucus/gel-forming 1276 Pro-rich.|Thr-rich. maintenance of gastrointestinal epithelium extracellular region extracellular matrix structural constituent breast(1)|central_nervous_system(1)|cervix(2)|endometrium(8)|kidney(10)|large_intestine(6)|lung(43)|ovary(4)|prostate(1)|upper_aerodigestive_tract(3)|urinary_tract(1) 80 all_cancers(49;3.3e-08)|all_epithelial(84;5.08e-05)|Breast(177;0.000307)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.229) all cancers(45;1.24e-24)|BRCA - Breast invasive adenocarcinoma(625;0.00031)|Lung(200;0.0576)|LUSC - Lung squamous cell carcinoma(625;0.0703) GGGTGACGGCCGTGGTTGGTC 0.637000 26 113 0 0 9.22233e-05 0 0 ZC4H2 55906 broad.mit.edu 37 X 64138969 64138969 + Missense_Mutation SNP C C T TCGA-D3-A2JL-06A-11D-A196-08 TCGA-D3-A2JL-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 06d6341f-cb6d-4a7e-9213-c7bb394aca56 bf91785e-7b33-4bd0-8ff5-c20c20b4e985 g.chrX:64138969C>T ENST00000545618.1 - 5 1062 c.499G>A c.(499-501)Gat>Aat p.D167N ZC4H2_ENST00000374839.3_Missense_Mutation_p.D172N|ZC4H2_ENST00000488608.1_5'UTR|ZC4H2_ENST00000337990.2_Missense_Mutation_p.D149N|ZC4H2_ENST00000447788.2_Intron Q9NQZ6 ZC4H2_HUMAN zinc finger, C4H2 domain containing 172 metal ion binding|protein binding endometrium(2)|large_intestine(4)|lung(13)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 24 TGCCGAGTATCCTGCTTCCTA 0.597000 17 31 0 0 5.01169e-05 0 0 PTPRB 5787 broad.mit.edu 37 12 70949773 70949773 + Missense_Mutation SNP C C T TCGA-D3-A2JL-06A-11D-A196-08 TCGA-D3-A2JL-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 06d6341f-cb6d-4a7e-9213-c7bb394aca56 bf91785e-7b33-4bd0-8ff5-c20c20b4e985 g.chr12:70949773C>T ENST00000334414.6 - 19 4914 c.4870G>A c.(4870-4872)Gaa>Aaa p.E1624K PTPRB_ENST00000261266.5_Missense_Mutation_p.E1406K|PTPRB_ENST00000550857.1_Missense_Mutation_p.E1316K|PTPRB_ENST00000550358.1_Missense_Mutation_p.E1536K|PTPRB_ENST00000538708.1_Missense_Mutation_p.E1316K|PTPRB_ENST00000451516.2_Missense_Mutation_p.E1316K NM_001109754.2 NP_001103224.1 P23467 PTPRB_HUMAN protein tyrosine phosphatase, receptor type, B 1406 angiogenesis integral to plasma membrane protein binding|transmembrane receptor protein tyrosine phosphatase activity breast(4)|central_nervous_system(2)|endometrium(13)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(8)|lung(46)|prostate(4)|skin(18)|upper_aerodigestive_tract(1)|urinary_tract(3) 107 Renal(347;0.236) GBM - Glioblastoma multiforme(2;2.17e-05)|Lung(24;0.000636)|OV - Ovarian serous cystadenocarcinoma(12;0.00306)|STAD - Stomach adenocarcinoma(21;0.149) AGAGATTTTTCTTTCTCCAGC 0.468000 4 11 0 0 1.23904e-05 0 0 FAM65C 140876 broad.mit.edu 37 20 49224937 49224937 + Silent SNP C C T TCGA-D3-A2JL-06A-11D-A196-08 TCGA-D3-A2JL-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 06d6341f-cb6d-4a7e-9213-c7bb394aca56 bf91785e-7b33-4bd0-8ff5-c20c20b4e985 g.chr20:49224937C>T ENST00000327979.2 - 11 1344 c.933G>A c.(931-933)gaG>gaA p.E311E FAM65C_ENST00000045083.2_Silent_p.E311E|FAM65C_ENST00000535356.1_Silent_p.E315E Q96MK2 FA65C_HUMAN family with sequence similarity 65, member C 311 endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|liver(1)|lung(12)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 29 TCCACTGCACCTCCAGCTGCA 0.652000 32 39 0 0 0.000109025 0 0 OPALIN 93377 broad.mit.edu 37 10 98105749 98105749 + Missense_Mutation SNP C C T TCGA-D3-A2JL-06A-11D-A196-08 TCGA-D3-A2JL-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 06d6341f-cb6d-4a7e-9213-c7bb394aca56 bf91785e-7b33-4bd0-8ff5-c20c20b4e985 g.chr10:98105749C>T ENST00000419479.1 - 7 852 c.345G>A c.(343-345)atG>atA p.M115I OPALIN_ENST00000393871.1_Missense_Mutation_p.M102I|OPALIN_ENST00000536387.1_Missense_Mutation_p.M115I|OPALIN_ENST00000371172.3_Missense_Mutation_p.M125I|OPALIN_ENST00000393870.2_Missense_Mutation_p.M114I NM_001040103.1 NP_001035192.1 Q96PE5 OPALI_HUMAN oligodendrocytic myelin paranodal and inner loop protein 125 Golgi apparatus|integral to membrane|plasma membrane breast(1)|large_intestine(1)|lung(5)|prostate(2) 9 TCCTTCTTTCCATTTCTATAG 0.512000 5 6 0 0 3.59834e-05 0 0 ZNF470 388566 broad.mit.edu 37 19 57089571 57089571 + Missense_Mutation SNP C C T TCGA-D3-A2JL-06A-11D-A196-08 TCGA-D3-A2JL-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 06d6341f-cb6d-4a7e-9213-c7bb394aca56 bf91785e-7b33-4bd0-8ff5-c20c20b4e985 g.chr19:57089571C>T ENST00000330619.8 + 6 2460 c.1774C>T c.(1774-1776)Ccg>Tcg p.P592S ZNF470_ENST00000391709.3_Missense_Mutation_p.P592S|ZNF470_ENST00000601902.1_Intron NM_001001668.3 NP_001001668.3 Q6ECI4 ZN470_HUMAN zinc finger protein 470 592 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding endometrium(7)|large_intestine(12)|lung(11)|ovary(1)|pancreas(3)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1) 41 Colorectal(82;5.46e-05)|Ovarian(87;0.0822)|Renal(1328;0.157) GBM - Glioblastoma multiforme(193;0.0294) TGGCAAAAGACCGTATGAATG 0.428000 5 26 0 0 1.23904e-05 0 0 RNPS1 10921 broad.mit.edu 37 16 2305647 2305647 + Missense_Mutation SNP G G A TCGA-D3-A2JL-06A-11D-A196-08 TCGA-D3-A2JL-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 06d6341f-cb6d-4a7e-9213-c7bb394aca56 bf91785e-7b33-4bd0-8ff5-c20c20b4e985 g.chr16:2305647G>A ENST00000565678.1 - 7 1302 c.757C>T c.(757-759)Ccc>Tcc p.P253S RNPS1_ENST00000566397.1_Missense_Mutation_p.P76S|RNPS1_ENST00000568631.1_Missense_Mutation_p.P253S|RNPS1_ENST00000569598.2_Missense_Mutation_p.P159S|RNPS1_ENST00000566458.1_Missense_Mutation_p.P230S|AC009065.1_ENST00000454671.1_Missense_Mutation_p.G130E|RNPS1_ENST00000567147.1_Intron|RNPS1_ENST00000561718.1_Missense_Mutation_p.P76S|RNPS1_ENST00000320225.5_Missense_Mutation_p.P253S|RNPS1_ENST00000397086.2_Missense_Mutation_p.P253S|RNPS1_ENST00000301730.8_Missense_Mutation_p.P253S Q15287 RNPS1_HUMAN RNA binding protein S1, serine-rich domain 253 Arg/Pro-rich.|Necessary for interaction with TRA2B, nuclear localization and exon-skipping. mRNA 3'-end processing|mRNA export from nucleus|nuclear mRNA splicing, via spliceosome|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay|termination of RNA polymerase II transcription cytosol|nuclear speck mRNA 3'-UTR binding|nucleotide binding|protein binding endometrium(1)|large_intestine(1)|lung(4)|ovary(2)|urinary_tract(1) 9 ATTCTCCTGGGAGGGCTGAAT 0.572000 26 43 0 0 0.000147802 0 0 ZNF610 162963 broad.mit.edu 37 19 52869869 52869869 + Missense_Mutation SNP T T C TCGA-D3-A2JL-06A-11D-A196-08 TCGA-D3-A2JL-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 06d6341f-cb6d-4a7e-9213-c7bb394aca56 bf91785e-7b33-4bd0-8ff5-c20c20b4e985 g.chr19:52869869T>C ENST00000601151.1 + 5 1561 c.1109T>C c.(1108-1110)tTa>tCa p.L370S ZNF610_ENST00000327920.8_Missense_Mutation_p.L413S|ZNF610_ENST00000403906.3_Missense_Mutation_p.L413S|ZNF610_ENST00000321287.8_Missense_Mutation_p.L413S NM_001161427.1 NP_001154899.1 Q8N9Z0 ZN610_HUMAN zinc finger protein 610 413 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding NS(1)|autonomic_ganglia(1)|breast(1)|endometrium(3)|kidney(3)|large_intestine(8)|liver(2)|lung(9)|ovary(2)|stomach(2)|upper_aerodigestive_tract(2) 34 OV - Ovarian serous cystadenocarcinoma(262;0.00396)|GBM - Glioblastoma multiforme(134;0.00434) GGGCGCAAATTATACCTAACC 0.423000 14 34 0 0 0.000308642 0 0 MAGEC1 9947 broad.mit.edu 37 X 140994657 140994657 + Silent SNP C C T TCGA-D3-A2JL-06A-11D-A196-08 TCGA-D3-A2JL-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 06d6341f-cb6d-4a7e-9213-c7bb394aca56 bf91785e-7b33-4bd0-8ff5-c20c20b4e985 g.chrX:140994657C>T ENST00000285879.4 + 4 1753 c.1467C>T c.(1465-1467)tcC>tcT p.S489S MAGEC1_ENST00000406005.2_Intron NM_005462.4 NP_005453.2 O60732 MAGC1_HUMAN melanoma antigen family C, 1 489 protein binding breast(3)|central_nervous_system(1)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(8)|large_intestine(22)|lung(60)|ovary(1)|pancreas(1)|prostate(1)|skin(7)|stomach(5)|upper_aerodigestive_tract(7)|urinary_tract(1) 127 Acute lymphoblastic leukemia(192;6.56e-05) CCTCCTCCTCCACTTTATTGA 0.493000 HNSCC(15;0.026) 60 137 0 0 0.000147903 0 0 SGSM1 129049 broad.mit.edu 37 22 25251323 25251323 + Missense_Mutation SNP G G A TCGA-D3-A2JL-06A-11D-A196-08 TCGA-D3-A2JL-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 06d6341f-cb6d-4a7e-9213-c7bb394aca56 bf91785e-7b33-4bd0-8ff5-c20c20b4e985 g.chr22:25251323G>A ENST00000400358.4 + 7 652 c.595G>A c.(595-597)Gaa>Aaa p.E199K SGSM1_ENST00000400359.4_Missense_Mutation_p.E199K NM_001098497.1|NM_001098498.1 NP_001091967.1|NP_001091968.1 Q2NKQ1 SGSM1_HUMAN small G protein signaling modulator 1 199 Golgi apparatus Rab GTPase activator activity NS(2)|breast(1)|central_nervous_system(2)|endometrium(5)|kidney(2)|large_intestine(14)|lung(10)|ovary(2)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1) 41 CTCGGCTGACGAACTTGTCCA 0.627000 19 12 0 0 0.000132079 0 0 MAGED1 9500 broad.mit.edu 37 X 51638416 51638416 + Missense_Mutation SNP A A G TCGA-D3-A2JL-06A-11D-A196-08 TCGA-D3-A2JL-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 06d6341f-cb6d-4a7e-9213-c7bb394aca56 bf91785e-7b33-4bd0-8ff5-c20c20b4e985 g.chrX:51638416A>G ENST00000375695.2 + 4 634 c.481A>G c.(481-483)Aac>Gac p.N161D MAGED1_ENST00000375772.3_Missense_Mutation_p.N105D|MAGED1_ENST00000494718.1_3'UTR|MAGED1_ENST00000326587.7_Missense_Mutation_p.N105D|MAGED1_ENST00000375722.1_Missense_Mutation_p.N105D NM_001005333.1 NP_001005333.1 Q9Y5V3 MAGD1_HUMAN melanoma antigen family D, 1 105 apoptosis|induction of apoptosis by extracellular signals|negative regulation of epithelial cell proliferation|nerve growth factor receptor signaling pathway|regulation of transcription, DNA-dependent cytoplasm|plasma membrane|protein complex protein binding breast(1)|endometrium(4)|large_intestine(10)|lung(13)|ovary(3)|upper_aerodigestive_tract(1) 32 Ovarian(276;0.236) GGATGTGCCCAACACGCAGCC 0.502000 Multiple Myeloma(10;0.10) 5 21 0 0 3.59834e-05 0 0 LTBP2 4053 broad.mit.edu 37 14 75078537 75078537 + Silent SNP C C T TCGA-D3-A2JL-06A-11D-A196-08 TCGA-D3-A2JL-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 06d6341f-cb6d-4a7e-9213-c7bb394aca56 bf91785e-7b33-4bd0-8ff5-c20c20b4e985 g.chr14:75078537C>T ENST00000261978.4 - 1 497 c.111G>A c.(109-111)agG>agA p.R37R LTBP2_ENST00000557425.1_Intron|LTBP2_ENST00000556690.1_Silent_p.R37R NM_000428.2 NP_000419.1 Q14767 LTBP2_HUMAN latent transforming growth factor beta binding protein 2 37 R -> M (in dbSNP:rs934996). protein secretion|protein targeting|transforming growth factor beta receptor signaling pathway extracellular space|proteinaceous extracellular matrix calcium ion binding|growth factor binding breast(3)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(9)|liver(1)|lung(29)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2) 58 BRCA - Breast invasive adenocarcinoma(234;0.00219)|READ - Rectum adenocarcinoma(1;0.0649) CTACGGGGTCCCTTTGGGCAT 0.706000 15 37 0 0 5.01169e-05 0 0 ZNF596 169270 broad.mit.edu 37 8 195562 195562 + Nonsense_Mutation SNP C C T TCGA-D3-A2JL-06A-11D-A196-08 TCGA-D3-A2JL-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 06d6341f-cb6d-4a7e-9213-c7bb394aca56 bf91785e-7b33-4bd0-8ff5-c20c20b4e985 g.chr8:195562C>T ENST00000398612.1 + 6 1098 c.715C>T c.(715-717)Cga>Tga p.R239* ZNF596_ENST00000308811.4_Nonsense_Mutation_p.R239*|ZNF596_ENST00000320552.2_Nonsense_Mutation_p.R169* NM_001042415.1|NM_001042416.1 NP_001035880.1|NP_001035881.1 Q8TC21 ZN596_HUMAN zinc finger protein 596 239 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding autonomic_ganglia(1)|endometrium(2)|large_intestine(6)|lung(5) 14 all_cancers(2;4.81e-29)|all_epithelial(2;5.03e-19)|Lung NSC(2;8.68e-08)|all_lung(2;1.52e-07)|Ovarian(12;0.00965)|Colorectal(14;0.0367)|all_neural(12;0.0837)|Myeloproliferative disorder(644;0.116)|all_hematologic(2;0.138)|Acute lymphoblastic leukemia(644;0.242) Epithelial(5;3.77e-18)|all cancers(2;5.2e-17)|OV - Ovarian serous cystadenocarcinoma(5;5.37e-09)|BRCA - Breast invasive adenocarcinoma(11;1.7e-06)|Colorectal(2;6.51e-05)|READ - Rectum adenocarcinoma(2;0.0276)|COAD - Colon adenocarcinoma(149;0.0702) CTCTGATCTTCGAAAACATGA 0.413000 6 23 0 0 3.59834e-05 0 0 KIF24 347240 broad.mit.edu 37 9 34256461 34256461 + Silent SNP G G A TCGA-D3-A2JL-06A-11D-A196-08 TCGA-D3-A2JL-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 06d6341f-cb6d-4a7e-9213-c7bb394aca56 bf91785e-7b33-4bd0-8ff5-c20c20b4e985 g.chr9:34256461G>A ENST00000379166.2 - 11 3263 c.3144C>T c.(3142-3144)ctC>ctT p.L1048L KIF24_ENST00000379174.3_Silent_p.L914L|KIF24_ENST00000402558.2_Silent_p.L1048L|KIF24_ENST00000345050.2_Silent_p.L914L NM_194313.2 NP_919289.2 Q5T7B8 KIF24_HUMAN kinesin family member 24 1048 microtubule-based movement cytoplasm|microtubule ATP binding|microtubule motor activity breast(1)|central_nervous_system(1)|endometrium(5)|large_intestine(4)|liver(1)|lung(13)|prostate(3)|skin(1)|stomach(1)|upper_aerodigestive_tract(2) 32 LUSC - Lung squamous cell carcinoma(29;0.0107) GGGGAGACATGAGTCCAGAAG 0.582000 34 34 0 0 0.000228196 0 0 SLC45A4 57210 broad.mit.edu 37 8 142229077 142229077 + Missense_Mutation SNP G G A TCGA-D3-A2JL-06A-11D-A196-08 TCGA-D3-A2JL-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 06d6341f-cb6d-4a7e-9213-c7bb394aca56 bf91785e-7b33-4bd0-8ff5-c20c20b4e985 g.chr8:142229077G>A ENST00000519067.1 - 4 812 c.509C>T c.(508-510)aCc>aTc p.T170I SLC45A4_ENST00000433583.2_Missense_Mutation_p.T163I|SLC45A4_ENST00000024061.3_Missense_Mutation_p.T170I|SLC45A4_ENST00000517878.1_Missense_Mutation_p.T221I Q5BKX6 S45A4_HUMAN solute carrier family 45, member 4 221 transport integral to membrane breast(1)|central_nervous_system(1)|endometrium(5)|kidney(2)|large_intestine(6)|lung(9)|ovary(3)|prostate(2)|skin(1)|upper_aerodigestive_tract(1) 31 all_cancers(97;1.52e-15)|all_epithelial(106;2.92e-14)|Lung NSC(106;1.23e-05)|all_lung(105;1.75e-05)|Ovarian(258;0.01)|Acute lymphoblastic leukemia(118;0.155) BRCA - Breast invasive adenocarcinoma(115;0.0493) GCCCAGGAAGGTCTGGGTCCA 0.657000 11 74 0 0 0.000219431 0 0 EYA1 2138 broad.mit.edu 37 8 72184096 72184096 + Missense_Mutation SNP T T C TCGA-D3-A2JL-06A-11D-A196-08 TCGA-D3-A2JL-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 06d6341f-cb6d-4a7e-9213-c7bb394aca56 bf91785e-7b33-4bd0-8ff5-c20c20b4e985 g.chr8:72184096T>C ENST00000340726.3 - 10 1502 c.863A>G c.(862-864)aAa>aGa p.K288R EYA1_ENST00000388741.2_Missense_Mutation_p.K254R|EYA1_ENST00000388743.2_Missense_Mutation_p.K287R|EYA1_ENST00000388742.4_Missense_Mutation_p.K288R|EYA1_ENST00000388740.3_Missense_Mutation_p.K255R|EYA1_ENST00000419131.1_Missense_Mutation_p.K283R|EYA1_ENST00000303824.7_Missense_Mutation_p.K282R NM_000503.4 NP_000494.2 Q99502 EYA1_HUMAN eyes absent homolog 1 (Drosophila) 288 double-strand break repair|histone dephosphorylation|positive regulation of DNA repair|protein sumoylation|regulation of transcription, DNA-dependent|response to ionizing radiation|sensory perception of sound|transcription, DNA-dependent cytoplasm|nucleus metal ion binding|protein tyrosine phosphatase activity NS(2)|breast(3)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(8)|lung(15)|ovary(4)|prostate(2)|skin(3)|upper_aerodigestive_tract(2) 44 Breast(64;0.046) Epithelial(68;0.0837)|all cancers(69;0.247) ATCTGAATCTTTAATGGGTGT 0.453000 33 68 0 0 0.000191422 0 0 TCHHL1 126637 broad.mit.edu 37 1 152058306 152058306 + Missense_Mutation SNP C C T TCGA-D3-A2JL-06A-11D-A196-08 TCGA-D3-A2JL-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 06d6341f-cb6d-4a7e-9213-c7bb394aca56 bf91785e-7b33-4bd0-8ff5-c20c20b4e985 g.chr1:152058306C>T ENST00000368806.1 - 3 1916 c.1852G>A c.(1852-1854)Gat>Aat p.D618N NM_001008536.1 NP_001008536.1 Q5QJ38 TCHL1_HUMAN trichohyalin-like 1 618 calcium ion binding breast(4)|endometrium(1)|kidney(2)|large_intestine(9)|lung(33)|ovary(2)|prostate(1)|skin(7)|stomach(1) 60 Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127) LUSC - Lung squamous cell carcinoma(543;0.246) AGCTGTACATCCTCTCCTCTG 0.557000 16 58 0 0 7.07596e-05 0 0 ZNF783 100289678 broad.mit.edu 37 7 148975604 148975604 + Missense_Mutation SNP C C T TCGA-D3-A2JL-06A-11D-A196-08 TCGA-D3-A2JL-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 06d6341f-cb6d-4a7e-9213-c7bb394aca56 bf91785e-7b33-4bd0-8ff5-c20c20b4e985 g.chr7:148975604C>T ENST00000434415.1 + 5 951 c.788C>T c.(787-789)gCc>gTc p.A263V ZNF783_ENST00000489518.1_3'UTR NM_001195220.1 NP_001182149.1 C9J9J2 C9J9J2_HUMAN zinc finger family member 783 263 regulation of transcription, DNA-dependent intracellular nucleic acid binding|zinc ion binding cervix(1)|endometrium(2)|kidney(2)|large_intestine(6)|lung(10)|prostate(1) 22 Melanoma(164;0.15) OV - Ovarian serous cystadenocarcinoma(82;0.0014) GTGGCCCCAGCCGGGCCAGAA 0.642000 11 29 0 0 0.000151284 0 0 SLC41A1 254428 broad.mit.edu 37 1 205779249 205779249 + Silent SNP G G A TCGA-D3-A2JL-06A-11D-A196-08 TCGA-D3-A2JL-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 06d6341f-cb6d-4a7e-9213-c7bb394aca56 bf91785e-7b33-4bd0-8ff5-c20c20b4e985 g.chr1:205779249G>A ENST00000367137.3 - 2 1335 c.321C>T c.(319-321)ctC>ctT p.L107L NM_173854.4 NP_776253.3 Q8IVJ1 S41A1_HUMAN solute carrier family 41 (magnesium transporter), member 1 107 integral to membrane|plasma membrane magnesium ion transmembrane transporter activity endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(2)|lung(4)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1) 17 Breast(84;0.0799) BRCA - Breast invasive adenocarcinoma(75;0.0252) AGCCTGCCAGGAGGAATGGAA 0.597000 39 55 0 0 0.000270559 0 0 SYCP1 6847 broad.mit.edu 37 1 115401177 115401177 + Missense_Mutation SNP G G A TCGA-D3-A2JL-06A-11D-A196-08 TCGA-D3-A2JL-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 06d6341f-cb6d-4a7e-9213-c7bb394aca56 bf91785e-7b33-4bd0-8ff5-c20c20b4e985 g.chr1:115401177G>A ENST00000369522.3 + 6 541 c.301G>A c.(301-303)Gga>Aga p.G101R SYCP1_ENST00000369518.1_Missense_Mutation_p.G101R NM_003176.2 NP_003167.2 Q15431 SYCP1_HUMAN synaptonemal complex protein 1 101 cell division|reciprocal meiotic recombination|spermatogenesis|synaptonemal complex assembly DNA binding RGS22/SYCP1(2) NS(1)|breast(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(17)|lung(20)|prostate(1)|skin(2)|upper_aerodigestive_tract(1) 48 Lung SC(450;0.211) all_cancers(81;8.65e-08)|all_epithelial(167;3.32e-07)|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)|all cancers(265;0.112)|Epithelial(280;0.124)|LUSC - Lung squamous cell carcinoma(189;0.133) GAATTCAGAGGGATTGAGCAG 0.299000 8 104 0 0 2.17888e-05 0 0 RMI2 116028 broad.mit.edu 37 16 11444541 11444541 + Missense_Mutation SNP C C T TCGA-D3-A2JL-06A-11D-A196-08 TCGA-D3-A2JL-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 06d6341f-cb6d-4a7e-9213-c7bb394aca56 bf91785e-7b33-4bd0-8ff5-c20c20b4e985 g.chr16:11444541C>T ENST00000572173.1 + 5 794 c.149C>T c.(148-150)cCt>cTt p.P50L RMI2_ENST00000576027.1_3'UTR|RMI2_ENST00000381820.2_Missense_Mutation_p.P50L|RMI2_ENST00000312499.5_Missense_Mutation_p.P113L Q96E14 RMI2_HUMAN RecQ mediated genome instability 2 113 DNA replication nucleus DNA binding endometrium(1)|kidney(1)|ovary(1) 3 GCCTGCAGCCCTGAGCCCTGC 0.423000 34 87 0 0 0.000228196 0 0 KDR 3791 broad.mit.edu 37 4 55956220 55956220 + Missense_Mutation SNP C C T TCGA-D3-A2JL-06A-11D-A196-08 TCGA-D3-A2JL-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 06d6341f-cb6d-4a7e-9213-c7bb394aca56 bf91785e-7b33-4bd0-8ff5-c20c20b4e985 g.chr4:55956220C>T ENST00000263923.4 - 23 3390 c.3095G>A c.(3094-3096)cGa>cAa p.R1032Q RP11-530I17.1_ENST00000511222.1_RNA NM_002253.2 NP_002244.1 P35968 VGFR2_HUMAN kinase insert domain receptor (a type III receptor tyrosine kinase) 1032 Protein kinase. angiogenesis|cell differentiation|interspecies interaction between organisms|positive regulation of endothelial cell migration|positive regulation of endothelial cell proliferation|positive regulation of focal adhesion assembly|positive regulation of positive chemotaxis|regulation of cell shape integral to plasma membrane ATP binding|growth factor binding|Hsp90 protein binding|integrin binding|receptor signaling protein tyrosine kinase activity|vascular endothelial growth factor receptor activity p.R1032Q(2) NS(1)|breast(3)|central_nervous_system(4)|endometrium(2)|haematopoietic_and_lymphoid_tissue(6)|kidney(8)|large_intestine(16)|lung(71)|ovary(2)|prostate(2)|skin(10)|soft_tissue(4)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(2) 135 all_cancers(7;0.0255)|all_lung(4;0.00175)|Lung NSC(11;0.00384)|all_epithelial(27;0.034)|Glioma(25;0.08)|all_neural(26;0.101) Epithelial(7;0.189) Sorafenib(DB00398)|Sunitinib(DB01268) GAGGATATTTCGTGCCGCCAG 0.448000 Mis """NSCLC, angiosarcoma""" TSP Lung(20;0.16) 12 24 0 0 0.000308642 0 0 MTOR 2475 broad.mit.edu 37 1 11199666 11199666 + Missense_Mutation SNP G G A TCGA-D3-A2JL-06A-11D-A196-08 TCGA-D3-A2JL-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 06d6341f-cb6d-4a7e-9213-c7bb394aca56 bf91785e-7b33-4bd0-8ff5-c20c20b4e985 g.chr1:11199666G>A ENST00000361445.4 - 35 4998 c.4922C>T c.(4921-4923)tCc>tTc p.S1641F MTOR_ENST00000495435.1_5'UTR NM_004958.3 NP_004949.1 P42345 MTOR_HUMAN mechanistic target of rapamycin (serine/threonine kinase) 1641 FAT. cell growth|cellular response to hypoxia|insulin receptor signaling pathway|nerve growth factor receptor signaling pathway|peptidyl-serine phosphorylation|phosphatidylinositol-mediated signaling|protein autophosphorylation|protein catabolic process|response to amino acid stimulus|response to nutrient|T cell costimulation|TOR signaling cascade endoplasmic reticulum membrane|Golgi membrane|lysosome|mitochondrial outer membrane|phosphatidylinositol 3-kinase complex|PML body|TORC1 complex|TORC2 complex ATP binding|phosphoprotein binding|protein serine/threonine kinase activity breast(5)|central_nervous_system(7)|endometrium(20)|kidney(34)|large_intestine(21)|lung(43)|ovary(9)|prostate(3)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1) 149 GACCACAAGGGACCGCACCAT 0.502000 30 86 0 0 0.000132358 0 0 KCNH5 27133 broad.mit.edu 37 14 63453898 63453898 + Silent SNP C C T TCGA-D3-A2JL-06A-11D-A196-08 TCGA-D3-A2JL-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 06d6341f-cb6d-4a7e-9213-c7bb394aca56 bf91785e-7b33-4bd0-8ff5-c20c20b4e985 g.chr14:63453898C>T ENST00000322893.7 - 5 709 c.441G>A c.(439-441)acG>acA p.T147T KCNH5_ENST00000420622.2_Silent_p.T147T|KCNH5_ENST00000394968.1_Silent_p.T89T|KCNH5_ENST00000394964.2_Silent_p.T89T NM_139318.3 NP_647479.2 Q8NCM2 KCNH5_HUMAN potassium voltage-gated channel, subfamily H (eag-related), member 5 147 regulation of transcription, DNA-dependent integral to membrane calmodulin binding|two-component sensor activity|voltage-gated potassium channel activity NS(1)|biliary_tract(1)|breast(3)|central_nervous_system(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(22)|lung(33)|ovary(5)|prostate(2)|skin(17)|upper_aerodigestive_tract(4)|urinary_tract(2) 99 OV - Ovarian serous cystadenocarcinoma(108;0.00958)|BRCA - Breast invasive adenocarcinoma(234;0.168) GGGCAAATTTCGTCCAACCTT 0.388000 8 26 0 0 0.000157383 0 0 GBA3 57733 broad.mit.edu 37 4 22749597 22749597 + RNA SNP G G A TCGA-D3-A2JL-06A-11D-A196-08 TCGA-D3-A2JL-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 06d6341f-cb6d-4a7e-9213-c7bb394aca56 bf91785e-7b33-4bd0-8ff5-c20c20b4e985 g.chr4:22749597G>A ENST00000508166.1 + 0 1067 GBA3_ENST00000503442.1_RNA|GBA3_ENST00000511446.1_RNA NM_020973.4 NP_066024.1 Q9H227 GBA3_HUMAN glucosidase, beta, acid 3 (gene/pseudogene) glycoside catabolic process|glycosylceramide catabolic process cytosol beta-galactosidase activity|beta-glucosidase activity|cation binding|glycosylceramidase activity breast(1)|kidney(2)|large_intestine(4)|lung(20)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 33 AACAAGAAAGGAGAACTAGGT 0.383000 5 18 0 0 1.23904e-05 0 0 FBXW9 84261 broad.mit.edu 37 19 12800923 12800923 + Splice_Site SNP G G A TCGA-D3-A2JL-06A-11D-A196-08 TCGA-D3-A2JL-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 06d6341f-cb6d-4a7e-9213-c7bb394aca56 bf91785e-7b33-4bd0-8ff5-c20c20b4e985 g.chr19:12800923G>A ENST00000393261.3 - 6 946 c.883_splice c.e6-1 p.A295_splice FBXW9_ENST00000587955.1_Silent_p.A315A|FBXW9_ENST00000544494.1_Splice_Site_p.A33_splice|FBXW9_ENST00000380339.3_Silent_p.A325A NM_032301.2 NP_115677.2 Q5XUX1 FBXW9_HUMAN F-box and WD repeat domain containing 9 325 protein binding cervix(1)|lung(4)|ovary(1)|prostate(1) 7 GGGCTGGGCCGGCTTCATGGG 0.637000 25 55 0 0 9.22233e-05 0 0 PROCR 10544 broad.mit.edu 37 20 33764014 33764014 + Silent SNP C C T TCGA-D3-A2JL-06A-11D-A196-08 TCGA-D3-A2JL-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 06d6341f-cb6d-4a7e-9213-c7bb394aca56 bf91785e-7b33-4bd0-8ff5-c20c20b4e985 g.chr20:33764014C>T ENST00000216968.4 + 3 448 c.366C>T c.(364-366)ccC>ccT p.P122P EDEM2_ENST00000540582.1_Intron NM_006404.3 NP_006395.2 Q9UNN8 EPCR_HUMAN protein C receptor, endothelial 122 antigen processing and presentation|blood coagulation|immune response integral to plasma membrane|MHC class I protein complex receptor activity breast(1)|kidney(2)|large_intestine(1)|lung(4)|prostate(1)|upper_aerodigestive_tract(1) 10 BRCA - Breast invasive adenocarcinoma(18;0.0152) Drotrecogin alfa(DB00055) AGCTGCCTCCCGAGGGCTCTA 0.612000 21 137 0 0 9.22233e-05 0 0 PRICKLE1 144165 broad.mit.edu 37 12 42853782 42853782 + Missense_Mutation SNP T T G TCGA-D3-A2JL-06A-11D-A196-08 TCGA-D3-A2JL-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 06d6341f-cb6d-4a7e-9213-c7bb394aca56 bf91785e-7b33-4bd0-8ff5-c20c20b4e985 g.chr12:42853782T>G ENST00000455697.1 - 8 2610 c.2325A>C c.(2323-2325)gaA>gaC p.E775D RP11-328C8.4_ENST00000547824.1_RNA|PRICKLE1_ENST00000445766.2_Missense_Mutation_p.E775D|PRICKLE1_ENST00000552240.1_Missense_Mutation_p.E775D|PRICKLE1_ENST00000345127.3_Missense_Mutation_p.E775D|PRICKLE1_ENST00000548696.1_Missense_Mutation_p.E775D NM_001144882.1|NM_001144883.1 NP_001138354.1|NP_001138355.1 Q96MT3 PRIC1_HUMAN prickle homolog 1 (Drosophila) 775 negative regulation of canonical Wnt receptor signaling pathway|negative regulation of cardiac muscle cell myoblast differentiation|negative regulation of transcription, DNA-dependent|positive regulation of proteasomal ubiquitin-dependent protein catabolic process|positive regulation of protein ubiquitination|protein import into nucleus cytosol|nuclear membrane zinc ion binding NS(1)|breast(2)|endometrium(4)|kidney(2)|large_intestine(12)|liver(1)|lung(13)|ovary(3)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(1) 47 all_cancers(12;4.25e-05)|Breast(8;0.176) GBM - Glioblastoma multiforme(48;0.2) GAAAATATCCTTCTTCTTCCG 0.517000 26 36 0 0 7.16444e-05 0 0 DIDO1 11083 broad.mit.edu 37 20 61525514 61525514 + Missense_Mutation SNP G G A TCGA-D3-A2JL-06A-11D-A196-08 TCGA-D3-A2JL-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 06d6341f-cb6d-4a7e-9213-c7bb394aca56 bf91785e-7b33-4bd0-8ff5-c20c20b4e985 g.chr20:61525514G>A ENST00000266070.4 - 12 2930 c.2605C>T c.(2605-2607)Ccg>Tcg p.P869S DIDO1_ENST00000395343.1_Missense_Mutation_p.P869S|DIDO1_ENST00000395340.1_Missense_Mutation_p.P869S|DIDO1_ENST00000395335.2_Missense_Mutation_p.P869S NM_033081.2 NP_149072.2 Q9BTC0 DIDO1_HUMAN death inducer-obliterator 1 869 apoptosis|transcription, DNA-dependent cytoplasm|nucleus zinc ion binding NS(6)|breast(5)|central_nervous_system(1)|cervix(3)|endometrium(6)|kidney(1)|large_intestine(17)|lung(39)|ovary(8)|prostate(3)|skin(7)|stomach(2)|upper_aerodigestive_tract(1) 99 Breast(26;5.68e-08) TGTTTTTTCGGAGCTGGCTCA 0.502000 42 176 0 0 0.000147903 0 0 KRT34 3885 broad.mit.edu 37 17 39537356 39537356 + Silent SNP C C T TCGA-D3-A2JL-06A-11D-A196-08 TCGA-D3-A2JL-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 06d6341f-cb6d-4a7e-9213-c7bb394aca56 bf91785e-7b33-4bd0-8ff5-c20c20b4e985 g.chr17:39537356C>T ENST00000394001.1 - 3 696 c.666G>A c.(664-666)gtG>gtA p.V222V NM_021013.3 NP_066293.2 O76011 KRT34_HUMAN keratin 34 222 Coil 1B.|Rod. epidermis development intermediate filament protein binding|structural molecule activity NS(1)|breast(2)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(4)|lung(9)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 25 Breast(137;0.000496) TCAGGGACTCCACCTGGGACT 0.537000 15 110 0 0 7.07596e-05 0 0 PLB1 151056 broad.mit.edu 37 2 28865849 28865849 + Silent SNP C C T TCGA-D3-A2JL-06A-11D-A196-08 TCGA-D3-A2JL-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 06d6341f-cb6d-4a7e-9213-c7bb394aca56 bf91785e-7b33-4bd0-8ff5-c20c20b4e985 g.chr2:28865849C>T ENST00000422425.2 + 57 4310 c.4266C>T c.(4264-4266)atC>atT p.I1422I PLB1_ENST00000541605.1_Silent_p.I398I|AC074011.2_ENST00000431376.1_RNA|PLB1_ENST00000327757.5_Silent_p.I1433I NM_001170585.1 NP_001164056.1 Q6P1J6 PLB1_HUMAN phospholipase B1 1433 Necessary for membrane localization (By similarity). lipid catabolic process|retinoid metabolic process|steroid metabolic process apical plasma membrane|integral to membrane lysophospholipase activity|phospholipase A2 activity|retinyl-palmitate esterase activity NS(2)|breast(1)|central_nervous_system(1)|endometrium(6)|kidney(2)|large_intestine(10)|lung(31)|ovary(6)|prostate(1)|skin(7)|stomach(2) 69 Acute lymphoblastic leukemia(172;0.155) TGGGCATCATCGGGACAGTGG 0.662000 7 16 0 0 0.000157383 0 0 SOWAHC 65124 broad.mit.edu 37 2 110373044 110373044 + Silent SNP C C T TCGA-D3-A2JL-06A-11D-A196-08 TCGA-D3-A2JL-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 06d6341f-cb6d-4a7e-9213-c7bb394aca56 bf91785e-7b33-4bd0-8ff5-c20c20b4e985 g.chr2:110373044C>T ENST00000356454.3 + 1 1134 c.978C>T c.(976-978)aaC>aaT p.N326N NM_023016.3 NP_075392.2 Q53LP3 ANR57_HUMAN sosondowah ankyrin repeat domain family member C 326 ACTTCGCCAACAAACACCAGC 0.627000 21 50 0 0 5.49717e-05 0 0 FBXW9 84261 broad.mit.edu 37 19 12800924 12800924 + Missense_Mutation SNP G G A TCGA-D3-A2JL-06A-11D-A196-08 TCGA-D3-A2JL-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 06d6341f-cb6d-4a7e-9213-c7bb394aca56 bf91785e-7b33-4bd0-8ff5-c20c20b4e985 g.chr19:12800924G>A ENST00000380339.3 - 6 1010 c.974C>T c.(973-975)gCc>gTc p.A325V FBXW9_ENST00000587955.1_Missense_Mutation_p.A315V|FBXW9_ENST00000393261.3_Splice_Site_p.A295_splice|FBXW9_ENST00000544494.1_Splice_Site_p.A33_splice Q5XUX1 FBXW9_HUMAN F-box and WD repeat domain containing 9 325 protein binding cervix(1)|lung(4)|ovary(1)|prostate(1) 7 GGCTGGGCCGGCTTCATGGGT 0.637000 25 54 0 0 9.22233e-05 0 0 AOC4P 90586 broad.mit.edu 37 17 41020841 41020841 + RNA SNP G G A TCGA-D3-A2JL-06A-11D-A196-08 TCGA-D3-A2JL-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 06d6341f-cb6d-4a7e-9213-c7bb394aca56 bf91785e-7b33-4bd0-8ff5-c20c20b4e985 g.chr17:41020841G>A ENST00000585538.1 + 0 1680 NR_002773.1 GCACACCCTGGGCACGGTCCA 0.567000 7 6 0 0 0.000157383 0 0 CFHR4 10877 broad.mit.edu 37 1 196887484 196887484 + Missense_Mutation SNP C C T TCGA-D3-A2JL-06A-11D-A196-08 TCGA-D3-A2JL-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 06d6341f-cb6d-4a7e-9213-c7bb394aca56 bf91785e-7b33-4bd0-8ff5-c20c20b4e985 g.chr1:196887484C>T ENST00000367416.2 + 10 1819 c.1682C>T c.(1681-1683)tCa>tTa p.S561L CFHR4_ENST00000367418.1_Missense_Mutation_p.S315L|CFHR4_ENST00000251424.4_Missense_Mutation_p.S315L|CFHR2_ENST00000367421.3_Intron NM_001201550.2|NM_001201551.1 NP_001188479.1|NP_001188480.1 complement factor H-related 4 NS(1)|breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(20)|ovary(1)|pancreas(1)|skin(2)|stomach(1) 36 TCAGTTCTATCATTTCAAGCA 0.368000 12 23 0 0 0.000151284 0 0 SERINC3 10955 broad.mit.edu 37 20 43138550 43138550 + Missense_Mutation SNP G G A TCGA-D3-A2JL-06A-11D-A196-08 TCGA-D3-A2JL-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 06d6341f-cb6d-4a7e-9213-c7bb394aca56 bf91785e-7b33-4bd0-8ff5-c20c20b4e985 g.chr20:43138550G>A ENST00000342374.4 - 5 752 c.595C>T c.(595-597)Cca>Tca p.P199S SERINC3_ENST00000255175.1_Missense_Mutation_p.P199S|SERINC3_ENST00000541235.1_Missense_Mutation_p.P144S NM_006811.2 NP_006802.1 Q13530 SERC3_HUMAN serine incorporator 3 199 integral to membrane|plasma membrane protein binding endometrium(4)|large_intestine(2)|lung(8)|skin(3)|urinary_tract(1) 18 Myeloproliferative disorder(115;0.0122) Colorectal(3;0.000291)|COAD - Colon adenocarcinoma(18;0.00189) CACAACCTTGGGTTTCCTTCT 0.443000 49 55 0 0 0.000147903 0 0 CHAT 1103 broad.mit.edu 37 10 50856615 50856615 + Silent SNP C C T TCGA-D3-A2JL-06A-11D-A196-08 TCGA-D3-A2JL-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 06d6341f-cb6d-4a7e-9213-c7bb394aca56 bf91785e-7b33-4bd0-8ff5-c20c20b4e985 g.chr10:50856615C>T ENST00000395562.2 + 10 1567 c.1098C>T c.(1096-1098)atC>atT p.I366I CHAT_ENST00000337653.2_Silent_p.I448I|CHAT_ENST00000339797.1_Silent_p.I330I|CHAT_ENST00000395559.2_Silent_p.I330I|CHAT_ENST00000351556.3_Silent_p.I330I|CHAT_ENST00000455728.2_Silent_p.I330I NM_001142933.1|NM_001142934.1 NP_001136405.1|NP_001136406.1 P28329 CLAT_HUMAN choline O-acetyltransferase 448 neurotransmitter biosynthetic process|neurotransmitter secretion cytosol|nucleus choline O-acetyltransferase activity central_nervous_system(3)|endometrium(2)|kidney(2)|large_intestine(11)|lung(34)|prostate(3)|urinary_tract(1) 56 all_neural(218;0.107) GBM - Glioblastoma multiforme(2;0.000585) Choline(DB00122) TCGATGGCATCGTCCTGGTGC 0.607000 13 23 0 0 0.000219431 0 0 RXFP2 122042 broad.mit.edu 37 13 32363266 32363266 + Missense_Mutation SNP G G A TCGA-D3-A2JL-06A-11D-A196-08 TCGA-D3-A2JL-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 06d6341f-cb6d-4a7e-9213-c7bb394aca56 bf91785e-7b33-4bd0-8ff5-c20c20b4e985 g.chr13:32363266G>A ENST00000298386.2 + 14 1152 c.1081G>A c.(1081-1083)Gaa>Aaa p.E361K RXFP2_ENST00000380314.1_Missense_Mutation_p.E337K NM_130806.3 NP_570718.1 Q8WXD0 RXFP2_HUMAN relaxin/insulin-like family peptide receptor 2 361 integral to membrane|plasma membrane cervix(1)|endometrium(2)|large_intestine(15)|lung(13)|prostate(1)|stomach(1) 33 Lung SC(185;0.0262) all cancers(112;0.000559)|Epithelial(112;0.0017)|OV - Ovarian serous cystadenocarcinoma(117;0.0145)|BRCA - Breast invasive adenocarcinoma(63;0.0535) CAGAGACCTGGAAAGGATAGA 0.343000 9 37 0 0 2.17888e-05 0 0 PLXNC1 10154 broad.mit.edu 37 12 94673364 94673364 + Missense_Mutation SNP C C G TCGA-D3-A2JL-06A-11D-A196-08 TCGA-D3-A2JL-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 06d6341f-cb6d-4a7e-9213-c7bb394aca56 bf91785e-7b33-4bd0-8ff5-c20c20b4e985 g.chr12:94673364C>G ENST00000258526.4 + 22 3963 c.3714C>G c.(3712-3714)ttC>ttG p.F1238L RP11-1105G2.3_ENST00000551941.1_Intron|PLXNC1_ENST00000545312.1_5'UTR|PLXNC1_ENST00000547057.1_Missense_Mutation_p.F285L NM_005761.2 NP_005752.1 O60486 PLXC1_HUMAN plexin C1 1238 axon guidance|cell adhesion integral to membrane|intracellular|plasma membrane receptor activity|receptor binding breast(2)|central_nervous_system(1)|cervix(2)|endometrium(4)|kidney(4)|large_intestine(12)|lung(30)|ovary(2)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1) 64 AAAAGATTTTCCAAGCATTCT 0.448000 19 90 0 0 0.000229342 0 0 THEMIS 387357 broad.mit.edu 37 6 128150713 128150713 + Missense_Mutation SNP G G A TCGA-D3-A2JL-06A-11D-A196-08 TCGA-D3-A2JL-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 06d6341f-cb6d-4a7e-9213-c7bb394aca56 bf91785e-7b33-4bd0-8ff5-c20c20b4e985 g.chr6:128150713G>A ENST00000368250.1 - 4 878 c.380C>T c.(379-381)tCa>tTa p.S127L THEMIS_ENST00000543064.1_Missense_Mutation_p.S206L|THEMIS_ENST00000537166.1_Missense_Mutation_p.S171L|THEMIS_ENST00000368248.2_Missense_Mutation_p.S206L Q8N1K5 THMS1_HUMAN thymocyte selection associated 206 CABIT 1. negative T cell selection|positive T cell selection|T cell receptor signaling pathway cytoplasm|nucleus breast(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(10)|liver(1)|lung(28)|ovary(2)|pancreas(1)|prostate(1)|skin(4)|stomach(1)|urinary_tract(3) 60 CCACTTATTTGAAAAATCTGT 0.353000 32 36 0 0 0.000339439 0 0 KRT79 338785 broad.mit.edu 37 12 53216811 53216811 + Silent SNP G G A TCGA-D3-A2JL-06A-11D-A196-08 TCGA-D3-A2JL-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 06d6341f-cb6d-4a7e-9213-c7bb394aca56 bf91785e-7b33-4bd0-8ff5-c20c20b4e985 g.chr12:53216811G>A ENST00000330553.5 - 7 1390 c.1356C>T c.(1354-1356)agC>agT p.S452S NM_175834.2 NP_787028.1 Q5XKE5 K2C79_HUMAN keratin 79 452 Coil 2.|Rod. keratin filament structural molecule activity endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(11)|ovary(2)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 30 TGCTCTCCTCGCTCTCCAGAA 0.652000 10 29 0 0 0.00010058 0 0 TTLL6 284076 broad.mit.edu 37 17 46846367 46846367 + Missense_Mutation SNP C C T TCGA-D3-A2JL-06A-11D-A196-08 TCGA-D3-A2JL-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 06d6341f-cb6d-4a7e-9213-c7bb394aca56 bf91785e-7b33-4bd0-8ff5-c20c20b4e985 g.chr17:46846367C>T ENST00000393382.3 - 15 2801 c.2660G>A c.(2659-2661)gGa>gAa p.G887E TTLL6_ENST00000433608.2_Missense_Mutation_p.G580E NM_001130918.1 NP_001124390.1 Q8N841 TTLL6_HUMAN tubulin tyrosine ligase-like family, member 6 839 cilium|microtubule basal body ATP binding|tubulin binding|tubulin-tyrosine ligase activity endometrium(1)|large_intestine(5)|lung(9)|prostate(1)|skin(2) 18 CCTCTCACATCCTTTTTGGCC 0.498000 36 52 0 0 0.000270559 0 0 SMOC1 64093 broad.mit.edu 37 14 70442529 70442529 + Missense_Mutation SNP C C T TCGA-D3-A2JL-06A-11D-A196-08 TCGA-D3-A2JL-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 06d6341f-cb6d-4a7e-9213-c7bb394aca56 bf91785e-7b33-4bd0-8ff5-c20c20b4e985 g.chr14:70442529C>T ENST00000381280.4 + 4 729 c.476C>T c.(475-477)tCa>tTa p.S159L SMOC1_ENST00000361956.3_Missense_Mutation_p.S159L NM_001034852.2|NM_022137.5 NP_001030024.1|NP_071420.1 Q9H4F8 SMOC1_HUMAN SPARC related modular calcium binding 1 159 cell differentiation|eye development|limb development|regulation of osteoblast differentiation|signal transduction basement membrane calcium ion binding breast(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(10)|ovary(1)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2) 21 all cancers(60;0.00417)|BRCA - Breast invasive adenocarcinoma(234;0.0119)|OV - Ovarian serous cystadenocarcinoma(108;0.028) CCTGTATGTTCAGGTACCGTA 0.527000 9 19 0 0 3.86212e-05 0 0 MAPK15 225689 broad.mit.edu 37 8 144801635 144801635 + Missense_Mutation SNP C C T TCGA-D3-A2JL-06A-11D-A196-08 TCGA-D3-A2JL-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 06d6341f-cb6d-4a7e-9213-c7bb394aca56 bf91785e-7b33-4bd0-8ff5-c20c20b4e985 g.chr8:144801635C>T ENST00000338033.4 + 7 823 c.704C>T c.(703-705)cCa>cTa p.P235L MAPK15_ENST00000395107.4_Missense_Mutation_p.P252L|MAPK15_ENST00000395108.2_Missense_Mutation_p.P235L NM_139021.2 NP_620590.2 Q8TD08 MK15_HUMAN mitogen-activated protein kinase 15 235 Protein kinase. protein autophosphorylation extracellular region ATP binding|MAP kinase activity|SH3 domain binding endometrium(1)|kidney(1)|large_intestine(1)|lung(6)|prostate(1)|skin(1)|stomach(1) 12 all_cancers(97;3.74e-11)|all_epithelial(106;2.62e-09)|Lung NSC(106;0.00013)|all_lung(105;0.000374)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155) OV - Ovarian serous cystadenocarcinoma(54;3.38e-41)|Epithelial(56;6.8e-40)|all cancers(56;6.43e-35)|Colorectal(110;0.055)|BRCA - Breast invasive adenocarcinoma(115;0.146) GAGACCATCCCACCGCCATCT 0.657000 10 33 0 0 2.17888e-05 0 0 SOX21 11166 broad.mit.edu 37 13 95364222 95364222 + Nonsense_Mutation SNP G G A TCGA-D3-A2JL-06A-11D-A196-08 TCGA-D3-A2JL-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 06d6341f-cb6d-4a7e-9213-c7bb394aca56 bf91785e-7b33-4bd0-8ff5-c20c20b4e985 g.chr13:95364222G>A ENST00000376945.2 - 1 167 c.82C>T c.(82-84)Cag>Tag p.Q28* NM_007084.2 NP_009015.1 Q9Y651 SOX21_HUMAN SRY (sex determining region Y)-box 21 28 regulation of transcription from RNA polymerase II promoter|stem cell differentiation nucleus DNA binding|sequence-specific DNA binding RNA polymerase II transcription factor activity large_intestine(3)|lung(1)|prostate(1)|skin(1) 6 all_neural(89;0.0646)|Medulloblastoma(90;0.163) GGGTTCTCCTGGGCCATCTTG 0.647000 8 23 0 0 0.000274275 0 0 DDX28 55794 broad.mit.edu 37 16 68056616 68056616 + Missense_Mutation SNP G G A TCGA-D3-A2JL-06A-11D-A196-08 TCGA-D3-A2JL-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 06d6341f-cb6d-4a7e-9213-c7bb394aca56 bf91785e-7b33-4bd0-8ff5-c20c20b4e985 g.chr16:68056616G>A ENST00000332395.5 - 1 1154 c.490C>T c.(490-492)Cgc>Tgc p.R164C NM_018380.3 NP_060850.2 Q9NUL7 DDX28_HUMAN DEAD (Asp-Glu-Ala-Asp) box polypeptide 28 164 Helicase ATP-binding. mitochondrial nucleoid|nucleus ATP binding|ATP-dependent helicase activity|RNA binding central_nervous_system(1)|kidney(2)|large_intestine(2)|lung(3)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1) 13 Ovarian(137;0.0563) OV - Ovarian serous cystadenocarcinoma(108;0.0116)|Epithelial(162;0.0474)|all cancers(182;0.233) TGGCGGCCGCGAAGTAGTGAG 0.642000 11 25 0 0 6.40141e-05 0 0 ATOH7 220202 broad.mit.edu 37 10 69991054 69991054 + Silent SNP C C T TCGA-D3-A2JL-06A-11D-A196-08 TCGA-D3-A2JL-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 06d6341f-cb6d-4a7e-9213-c7bb394aca56 bf91785e-7b33-4bd0-8ff5-c20c20b4e985 g.chr10:69991054C>T ENST00000373673.3 - 1 817 c.381G>A c.(379-381)gcG>gcA p.A127A NM_145178.3 NP_660161.1 Q8N100 ATOH7_HUMAN atonal homolog 7 (Drosophila) 127 cell differentiation|nervous system development|regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding CCGGCAGCTTCGCGCCCGGGA 0.706000 6 23 0 0 8.12818e-05 0 0 TNS4 84951 broad.mit.edu 37 17 38640807 38640807 + Missense_Mutation SNP G G A TCGA-D3-A2JL-06A-11D-A196-08 TCGA-D3-A2JL-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 06d6341f-cb6d-4a7e-9213-c7bb394aca56 bf91785e-7b33-4bd0-8ff5-c20c20b4e985 g.chr17:38640807G>A ENST00000254051.6 - 6 1588 c.1430C>T c.(1429-1431)tCt>tTt p.S477F NM_032865.5 NP_116254.4 Q8IZW8 TENS4_HUMAN tensin 4 477 SH2. apoptosis|protein localization cytoplasm|cytoskeleton|focal adhesion actin binding NS(2)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(3)|ovary(2)|prostate(2)|skin(10)|upper_aerodigestive_tract(1) 30 Breast(137;0.000496) STAD - Stomach adenocarcinoma(5;5.91e-05) TCGGTATGAAGAGCTGTCCCT 0.582000 41 31 0 0 0.000437636 0 0 TBX2 6909 broad.mit.edu 37 17 59482937 59482937 + Missense_Mutation SNP G G A TCGA-D3-A2JL-06A-11D-A196-08 TCGA-D3-A2JL-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 06d6341f-cb6d-4a7e-9213-c7bb394aca56 bf91785e-7b33-4bd0-8ff5-c20c20b4e985 g.chr17:59482937G>A ENST00000240328.3 + 6 1707 c.1426G>A c.(1426-1428)Ggg>Agg p.G476R RP11-332H18.4_ENST00000592009.1_RNA NM_005994.3 NP_005985.3 Q13207 TBX2_HUMAN T-box 2 476 Gly-rich. cell aging|positive regulation of cell proliferation sequence-specific DNA binding endometrium(1)|lung(7)|ovary(1) 9 CCACTTGCACGGGCAGCAGTT 0.701000 6 25 0 0 0.000157383 0 0 DSCAM 1826 broad.mit.edu 37 21 41414391 41414391 + Missense_Mutation SNP C C T TCGA-D3-A2JL-06A-11D-A196-08 TCGA-D3-A2JL-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 06d6341f-cb6d-4a7e-9213-c7bb394aca56 bf91785e-7b33-4bd0-8ff5-c20c20b4e985 g.chr21:41414391C>T ENST00000400454.1 - 32 6070 c.5593G>A c.(5593-5595)Gaa>Aaa p.E1865K NM_001389.3 NP_001380.2 O60469 DSCAM_HUMAN Down syndrome cell adhesion molecule 1865 cell adhesion|dendrite self-avoidance|negative regulation of cell adhesion|positive regulation of axon extension involved in axon guidance|positive regulation of phosphorylation axon|extracellular region|growth cone|integral to plasma membrane|membrane fraction protein binding p.E1865K(1) NS(2)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(22)|haematopoietic_and_lymphoid_tissue(4)|kidney(6)|large_intestine(22)|lung(47)|ovary(7)|pancreas(2)|prostate(3)|skin(14)|upper_aerodigestive_tract(6)|urinary_tract(4) 142 all_cancers(19;0.186)|Prostate(19;1.15e-05)|all_epithelial(19;0.0103) ATTCCCGATTCGGAAGGGGTG 0.537000 19 78 0 0 9.7654e-05 0 0 IL1F10 84639 broad.mit.edu 37 2 113832237 113832237 + Missense_Mutation SNP C C T TCGA-D3-A2JL-06A-11D-A196-08 TCGA-D3-A2JL-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 06d6341f-cb6d-4a7e-9213-c7bb394aca56 bf91785e-7b33-4bd0-8ff5-c20c20b4e985 g.chr2:113832237C>T ENST00000337569.3 + 3 131 c.56C>T c.(55-57)cCt>cTt p.P19L IL1F10_ENST00000393197.2_Intron|IL1F10_ENST00000341010.2_Intron Q8WWZ1 IL1FA_HUMAN interleukin 1 family, member 10 (theta) 19 extracellular space cytokine activity|interleukin-1 receptor antagonist activity endometrium(1)|lung(6)|ovary(1) 8 GAGCCTTTACCTGCCAAGAGC 0.577000 35 71 0 0 0.000319135 0 0 PCDHGB3 56102 broad.mit.edu 37 5 140750352 140750352 + Missense_Mutation SNP C C T TCGA-D3-A2JL-06A-11D-A196-08 TCGA-D3-A2JL-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 06d6341f-cb6d-4a7e-9213-c7bb394aca56 bf91785e-7b33-4bd0-8ff5-c20c20b4e985 g.chr5:140750352C>T ENST00000576222.1 + 1 522 c.391C>T c.(391-393)Ccg>Tcg p.P131S PCDHGA4_ENST00000571252.1_Intron|PCDHGA2_ENST00000394576.2_Intron|PCDHGA3_ENST00000253812.6_Intron|PCDHGA5_ENST00000518069.1_Intron|PCDHGB2_ENST00000522605.1_Intron|PCDHGA1_ENST00000517417.1_Intron|PCDHGB1_ENST00000523390.1_Intron NM_018924.2|NM_032097.1 NP_061747.1|NP_115268.1 endometrium(1)|kidney(1)|lung(3) 5 KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191) CGACAACCCACCGACCTTTAG 0.448000 70 80 0 0 0.000147903 0 0 HGFAC 3083 broad.mit.edu 37 4 3449240 3449240 + Silent SNP C C T TCGA-D3-A2JL-06A-11D-A196-08 TCGA-D3-A2JL-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 06d6341f-cb6d-4a7e-9213-c7bb394aca56 bf91785e-7b33-4bd0-8ff5-c20c20b4e985 g.chr4:3449240C>T ENST00000382774.3 + 11 1492 c.1377C>T c.(1375-1377)tcC>tcT p.S459S HGFAC_ENST00000511533.1_Silent_p.S466S NM_001528.2 NP_001519.1 Q04756 HGFA_HUMAN HGF activator 459 Peptidase S1. proteolysis extracellular space protein binding|serine-type endopeptidase activity central_nervous_system(3)|cervix(1)|endometrium(4)|large_intestine(2)|lung(8)|upper_aerodigestive_tract(2)|urinary_tract(2) 22 UCEC - Uterine corpus endometrioid carcinoma (64;0.163) ACAGCGTCTCCGTGGTGCTGG 0.662000 30 70 0 0 0.000227799 0 0 SLC6A13 6540 broad.mit.edu 37 12 369146 369146 + Missense_Mutation SNP C C T TCGA-D3-A2JL-06A-11D-A196-08 TCGA-D3-A2JL-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 06d6341f-cb6d-4a7e-9213-c7bb394aca56 bf91785e-7b33-4bd0-8ff5-c20c20b4e985 g.chr12:369146C>T ENST00000343164.4 - 2 125 c.73G>A c.(73-75)Gag>Aag p.E25K SLC6A13_ENST00000445055.2_Missense_Mutation_p.E25K|SLC6A13_ENST00000436453.1_Missense_Mutation_p.E25K NM_016615.4 NP_057699.2 Q9NSD5 S6A13_HUMAN solute carrier family 6 (neurotransmitter transporter), member 13 25 Missing (in Ref. 1; AAF64247). neurotransmitter secretion integral to plasma membrane gamma-aminobutyric acid:sodium symporter activity|neurotransmitter:sodium symporter activity NS(1)|autonomic_ganglia(1)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(7)|lung(11)|prostate(1)|urinary_tract(1) 28 all_cancers(10;0.0416)|all_epithelial(11;0.0537)|all_lung(10;0.0989)|Lung NSC(10;0.139)|Ovarian(42;0.142) OV - Ovarian serous cystadenocarcinoma(31;0.00153)|BRCA - Breast invasive adenocarcinoma(9;0.239) CCATCTTCCTCCTTCTTTTCC 0.522000 24 90 0 0 0.000117367 0 0 KEL 3792 broad.mit.edu 37 7 142650956 142650956 + Missense_Mutation SNP G G A TCGA-D3-A2JL-06A-11D-A196-08 TCGA-D3-A2JL-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 06d6341f-cb6d-4a7e-9213-c7bb394aca56 bf91785e-7b33-4bd0-8ff5-c20c20b4e985 g.chr7:142650956G>A ENST00000355265.2 - 9 1486 c.1012C>T c.(1012-1014)Cat>Tat p.H338Y KEL_ENST00000479768.2_5'UTR NM_000420.2 NP_000411.1 P23276 KELL_HUMAN Kell blood group, metallo-endopeptidase 338 proteolysis|vasoconstriction integral to membrane|plasma membrane metal ion binding|metalloendopeptidase activity|protein binding central_nervous_system(1)|endometrium(3)|kidney(5)|large_intestine(11)|lung(34)|ovary(3)|prostate(2)|skin(1) 60 Melanoma(164;0.059) TCCACGTCATGGACCACGAGG 0.537000 43 61 0 0 8.96297e-05 0 0 NCKAP5 344148 broad.mit.edu 37 2 133539526 133539526 + Missense_Mutation SNP C C T TCGA-D3-A2JL-06A-11D-A196-08 TCGA-D3-A2JL-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 06d6341f-cb6d-4a7e-9213-c7bb394aca56 bf91785e-7b33-4bd0-8ff5-c20c20b4e985 g.chr2:133539526C>T ENST00000409261.1 - 14 5231 c.4858G>A c.(4858-4860)Gaa>Aaa p.E1620K NCKAP5_ENST00000473859.1_5'UTR|NCKAP5_ENST00000409213.1_Intron|NCKAP5_ENST00000405974.3_Intron|NCKAP5_ENST00000317721.6_Missense_Mutation_p.E1620K NM_207363.2 NP_997246.2 O14513 NCKP5_HUMAN NCK-associated protein 5 1620 protein binding NS(4)|autonomic_ganglia(1)|breast(5)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(29)|lung(51)|prostate(5)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 118 TTCAAGAGTTCCGTCATGAAG 0.448000 46 65 0 0 0.000147903 0 0 CYP2B7P 1556 broad.mit.edu 37 19 41450752 41450752 + RNA SNP C C T TCGA-D3-A2JL-06A-11D-A196-08 TCGA-D3-A2JL-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 06d6341f-cb6d-4a7e-9213-c7bb394aca56 bf91785e-7b33-4bd0-8ff5-c20c20b4e985 g.chr19:41450752C>T ENST00000599198.1 + 0 1343 NR_001278.1 NS(1)|endometrium(6)|kidney(1)|lung(2)|ovary(1)|skin(1) 12 ATCCCCTTCTCCTTAGGTAAG 0.458000 12 72 0 0 0.000308642 0 0 NR4A2 4929 broad.mit.edu 37 2 157183340 157183340 + Silent SNP G G A TCGA-D3-A2JL-06A-11D-A196-08 TCGA-D3-A2JL-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 06d6341f-cb6d-4a7e-9213-c7bb394aca56 bf91785e-7b33-4bd0-8ff5-c20c20b4e985 g.chr2:157183340G>A ENST00000339562.4 - 6 1613 c.1251C>T c.(1249-1251)atC>atT p.I417I NR4A2_ENST00000409108.2_Silent_p.I417I|NR4A2_ENST00000426264.1_Silent_p.I354I|NR4A2_ENST00000409572.1_Silent_p.I417I|NR4A2_ENST00000429376.1_Silent_p.I354I|NR4A2_ENST00000539077.1_Silent_p.I428I NM_006186.3 NP_006177.1 P43354 NR4A2_HUMAN nuclear receptor subfamily 4, group A, member 2 417 Ligand-binding (Potential). cellular response to extracellular stimulus|dopaminergic neuron differentiation|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor|response to protein stimulus nucleoplasm sequence-specific DNA binding transcription factor activity|steroid hormone receptor activity|zinc ion binding breast(3)|endometrium(4)|kidney(1)|large_intestine(7)|lung(15)|ovary(5)|prostate(1)|skin(3)|urinary_tract(1) 40 CCCAGCCCCGGATGATCTCCA 0.502000 60 158 0 0 0.000147903 0 0 ADAMTS20 80070 broad.mit.edu 37 12 43826523 43826523 + Missense_Mutation SNP C C T TCGA-D3-A2JL-06A-11D-A196-08 TCGA-D3-A2JL-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 06d6341f-cb6d-4a7e-9213-c7bb394aca56 bf91785e-7b33-4bd0-8ff5-c20c20b4e985 g.chr12:43826523C>T ENST00000389420.3 - 20 2811 c.2812G>A c.(2812-2814)Gaa>Aaa p.E938K ADAMTS20_ENST00000553158.1_Missense_Mutation_p.E938K|ADAMTS20_ENST00000395541.2_Missense_Mutation_p.E92K NM_025003.3 NP_079279.3 P59510 ATS20_HUMAN ADAM metallopeptidase with thrombospondin type 1 motif, 20 938 TSP type-1 3. proteinaceous extracellular matrix zinc ion binding breast(1)|central_nervous_system(6)|endometrium(3)|kidney(4)|large_intestine(11)|liver(1)|lung(43)|ovary(4)|pancreas(3)|prostate(5)|skin(12)|upper_aerodigestive_tract(1)|urinary_tract(1) 95 all_cancers(12;2.6e-05)|Lung SC(27;0.184) Lung NSC(34;0.0569)|all_lung(34;0.129) GBM - Glioblastoma multiforme(48;0.0473) GTCTGTCCTTCATGAATGGAA 0.423000 25 44 0 0 9.22233e-05 0 0 RP1 6101 broad.mit.edu 37 8 55537354 55537354 + Silent SNP G G A TCGA-D3-A2JL-06A-11D-A196-08 TCGA-D3-A2JL-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 06d6341f-cb6d-4a7e-9213-c7bb394aca56 bf91785e-7b33-4bd0-8ff5-c20c20b4e985 g.chr8:55537354G>A ENST00000220676.1 + 4 1060 c.912G>A c.(910-912)aaG>aaA p.K304K NM_006269.1 NP_006260.1 P56715 RP1_HUMAN retinitis pigmentosa 1 (autosomal dominant) 304 axoneme assembly|intracellular signal transduction|photoreceptor cell maintenance|photoreceptor cell outer segment organization|phototransduction, visible light|retinal cone cell development|retinal rod cell development cilium axoneme|cytoplasm|microtubule|microtubule associated complex|photoreceptor connecting cilium|photoreceptor inner segment|photoreceptor outer segment microtubule binding NS(4)|breast(6)|central_nervous_system(2)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(4)|kidney(7)|large_intestine(29)|lung(69)|ovary(6)|pancreas(1)|prostate(9)|skin(17)|upper_aerodigestive_tract(3)|urinary_tract(2) 169 all_lung(136;0.0831)|Lung NSC(129;0.109)|all_epithelial(80;0.123) OV - Ovarian serous cystadenocarcinoma(7;4.4e-07)|Epithelial(17;3.37e-05)|all cancers(17;0.000285) CCTTAGAAAAGAATGATTCTC 0.318000 5 58 0 0 3.59834e-05 0 0 THOC6 79228 broad.mit.edu 37 16 3076282 3076282 + Missense_Mutation SNP C C T TCGA-D3-A2JL-06A-11D-A196-08 TCGA-D3-A2JL-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 06d6341f-cb6d-4a7e-9213-c7bb394aca56 bf91785e-7b33-4bd0-8ff5-c20c20b4e985 g.chr16:3076282C>T ENST00000326266.8 + 5 651 c.355C>T c.(355-357)Cca>Tca p.P119S THOC6_ENST00000574549.1_Missense_Mutation_p.P95S|THOC6_ENST00000575576.1_Missense_Mutation_p.P95S|THOC6_ENST00000253952.9_Missense_Mutation_p.P119S NM_024339.3 NP_077315.2 Q86W42 THOC6_HUMAN THO complex 6 homolog (Drosophila) 119 intronless viral mRNA export from host nucleus|mRNA processing|RNA splicing THO complex part of transcription export complex RNA binding central_nervous_system(1)|endometrium(4)|large_intestine(2)|lung(4)|ovary(1)|prostate(1) 13 TCGTCAGCCTCCATACAGGTG 0.577000 5 40 0 0 0.000157383 0 0 ADAM18 8749 broad.mit.edu 37 8 39442147 39442147 + Silent SNP C C T TCGA-D3-A2JL-06A-11D-A196-08 TCGA-D3-A2JL-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 06d6341f-cb6d-4a7e-9213-c7bb394aca56 bf91785e-7b33-4bd0-8ff5-c20c20b4e985 g.chr8:39442147C>T ENST00000265707.5 + 1 51 c.6C>T c.(4-6)ttC>ttT p.F2F ADAM18_ENST00000379866.1_Silent_p.F2F|ADAM18_ENST00000541111.1_5'UTR|ADAM18_ENST00000520772.1_Silent_p.F2F NM_014237.2 NP_055052.1 Q9Y3Q7 ADA18_HUMAN ADAM metallopeptidase domain 18 2 cell differentiation|multicellular organismal development|proteolysis|spermatogenesis integral to membrane|membrane fraction metalloendopeptidase activity|zinc ion binding NS(2)|central_nervous_system(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|lung(31)|ovary(1)|prostate(1)|skin(12)|stomach(1)|upper_aerodigestive_tract(3) 71 all_cancers(7;1.32e-05)|all_epithelial(6;3.08e-10)|all_lung(54;0.00187)|Hepatocellular(245;0.00745)|Lung NSC(58;0.00769)|Breast(189;0.0112) LUSC - Lung squamous cell carcinoma(45;0.000199) GAGCCATGTTCCTTCTCCTCG 0.627000 26 38 0 0 0.000109025 0 0 DCAF4 26094 broad.mit.edu 37 14 73404716 73404716 + Translation_Start_Site SNP A A T TCGA-D3-A2JL-06A-11D-A196-08 TCGA-D3-A2JL-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 06d6341f-cb6d-4a7e-9213-c7bb394aca56 bf91785e-7b33-4bd0-8ff5-c20c20b4e985 g.chr14:73404716A>T ENST00000553457.1 + 0 20 DCAF4_ENST00000555042.1_Missense_Mutation_p.R10S|DCAF4_ENST00000510612.1_3'UTR|DCAF4_ENST00000509153.1_Missense_Mutation_p.R10S|DCAF4_ENST00000394234.2_Intron|DCAF4_ENST00000358377.2_Missense_Mutation_p.R10S|DCAF4_ENST00000353777.3_Missense_Mutation_p.R10S Q8WV16 DCAF4_HUMAN DDB1 and CUL4 associated factor 4 CUL4 RING ubiquitin ligase complex NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(5)|lung(6)|ovary(1)|skin(1) 22 AGAGTAGAAGACGACATGGGA 0.478000 56 119 0 0 0.000147903 0 0 CXCL6 6372 broad.mit.edu 37 4 74702991 74702991 + Missense_Mutation SNP A A T TCGA-D3-A2JL-06A-11D-A196-08 TCGA-D3-A2JL-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 06d6341f-cb6d-4a7e-9213-c7bb394aca56 bf91785e-7b33-4bd0-8ff5-c20c20b4e985 g.chr4:74702991A>T ENST00000226317.5 + 3 568 c.314A>T c.(313-315)aAa>aTa p.K105I CXCL6_ENST00000515050.1_Missense_Mutation_p.K105I|CXCL6_ENST00000503446.1_3'UTR NM_002993.3 NP_002984.1 P80162 CXCL6_HUMAN chemokine (C-X-C motif) ligand 6 105 cell-cell signaling|chemotaxis|immune response|inflammatory response|signal transduction extracellular space chemokine activity|heparin binding large_intestine(1)|lung(7) 8 Breast(15;0.00102) all cancers(17;0.00176)|Lung(101;0.128)|LUSC - Lung squamous cell carcinoma(112;0.187) GTCATCCAGAAAATTTTGGAC 0.403000 19 55 0 0 0.000295444 0 0 ZNF184 7738 broad.mit.edu 37 6 27419241 27419241 + Silent SNP G G A TCGA-D3-A2JL-06A-11D-A196-08 TCGA-D3-A2JL-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 06d6341f-cb6d-4a7e-9213-c7bb394aca56 bf91785e-7b33-4bd0-8ff5-c20c20b4e985 g.chr6:27419241G>A ENST00000211936.6 - 6 2381 c.2097C>T c.(2095-2097)aaC>aaT p.N699N ZNF184_ENST00000377419.1_Silent_p.N699N NM_007149.2 NP_009080.2 Q99676 ZN184_HUMAN zinc finger protein 184 699 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding breast(1)|cervix(1)|endometrium(4)|kidney(9)|large_intestine(13)|lung(14)|ovary(1)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1) 48 ATTCATTACAGTTATAAGGTT 0.413000 19 47 0 0 0.000132079 0 0 RRN3P2 653390 broad.mit.edu 37 16 29110458 29110458 + RNA SNP T T C rs151074589 by1000genomes TCGA-D3-A2JL-06A-11D-A196-08 TCGA-D3-A2JL-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 06d6341f-cb6d-4a7e-9213-c7bb394aca56 bf91785e-7b33-4bd0-8ff5-c20c20b4e985 g.chr16:29110458T>C ENST00000564580.1 + 0 1131 p.W375R(25) GAATTTTGAGTGGATAGTGAT 0.328000 5 56 0 0 3.59834e-05 0 0 BTNL8 79908 broad.mit.edu 37 5 180335889 180335889 + Missense_Mutation SNP C C T TCGA-D3-A2JL-06A-11D-A196-08 TCGA-D3-A2JL-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 06d6341f-cb6d-4a7e-9213-c7bb394aca56 bf91785e-7b33-4bd0-8ff5-c20c20b4e985 g.chr5:180335889C>T ENST00000231229.4 + 2 587 c.353C>T c.(352-354)tCc>tTc p.S118F BTNL8_ENST00000508408.1_Missense_Mutation_p.S118F|BTNL8_ENST00000511704.1_Intron|BTNL8_ENST00000340184.4_Missense_Mutation_p.S118F|BTNL8_ENST00000400707.3_Intron NM_001159708.1|NM_024850.2 NP_001153180.1|NP_079126.1 Q6UX41 BTNL8_HUMAN butyrophilin-like 8 118 Ig-like V-type 1. integral to membrane breast(1)|endometrium(4)|kidney(2)|large_intestine(4)|lung(12)|prostate(3)|skin(1)|upper_aerodigestive_tract(1) 28 all_cancers(89;3.37e-05)|all_epithelial(37;3.77e-06)|Renal(175;0.000159)|Lung NSC(126;0.00211)|all_lung(126;0.00371)|Breast(19;0.114) all_cancers(40;0.0801)|Medulloblastoma(196;0.0392)|all_neural(177;0.0529)|all_hematologic(541;0.191) Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178) AGGATTAGTTCCCAGTCTTAC 0.463000 136 202 0 0 0.000147903 0 0 MUC6 4588 broad.mit.edu 37 11 1019476 1019476 + Missense_Mutation SNP C C T TCGA-D3-A2JL-06A-11D-A196-08 TCGA-D3-A2JL-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 06d6341f-cb6d-4a7e-9213-c7bb394aca56 bf91785e-7b33-4bd0-8ff5-c20c20b4e985 g.chr11:1019476C>T ENST00000421673.2 - 30 3879 c.3829G>A c.(3829-3831)Gcc>Acc p.A1277T NM_005961.2 NP_005952.2 Q6W4X9 MUC6_HUMAN mucin 6, oligomeric mucus/gel-forming 1277 Pro-rich.|Thr-rich. maintenance of gastrointestinal epithelium extracellular region extracellular matrix structural constituent breast(1)|central_nervous_system(1)|cervix(2)|endometrium(8)|kidney(10)|large_intestine(6)|lung(43)|ovary(4)|prostate(1)|upper_aerodigestive_tract(3)|urinary_tract(1) 80 all_cancers(49;3.3e-08)|all_epithelial(84;5.08e-05)|Breast(177;0.000307)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.229) all cancers(45;1.24e-24)|BRCA - Breast invasive adenocarcinoma(625;0.00031)|Lung(200;0.0576)|LUSC - Lung squamous cell carcinoma(625;0.0703) GGGGTGACGGCCGTGGTTGGT 0.642000 26 114 0 0 9.22233e-05 0 0 PIK3C2A 5286 broad.mit.edu 37 11 17140817 17140817 + Missense_Mutation SNP C C T TCGA-D3-A2JL-06A-11D-A196-08 TCGA-D3-A2JL-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 06d6341f-cb6d-4a7e-9213-c7bb394aca56 bf91785e-7b33-4bd0-8ff5-c20c20b4e985 g.chr11:17140817C>T ENST00000265970.7 - 16 2889 c.2890G>A c.(2890-2892)Gag>Aag p.E964K PIK3C2A_ENST00000540361.1_Missense_Mutation_p.E584K|PIK3C2A_ENST00000531428.1_Intron NM_002645.2 NP_002636.2 O00443 P3C2A_HUMAN phosphatidylinositol-4-phosphate 3-kinase, catalytic subunit type 2 alpha 964 cell communication|phosphatidylinositol biosynthetic process|phosphatidylinositol-mediated signaling clathrin-coated vesicle|Golgi apparatus|nucleus|phosphatidylinositol 3-kinase complex|plasma membrane 1-phosphatidylinositol-3-kinase activity|ATP binding|phosphatidylinositol binding|phosphatidylinositol-4-phosphate 3-kinase activity central_nervous_system(4)|endometrium(5)|kidney(5)|large_intestine(7)|lung(24)|ovary(3)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 58 Phosphatidylserine(DB00144) CTAATGGCCTCAATCCAGGTC 0.378000 21 65 0 0 0.000295444 0 0 RBM25 58517 broad.mit.edu 37 14 73581037 73581037 + Missense_Mutation SNP C C T TCGA-D3-A2JL-06A-11D-A196-08 TCGA-D3-A2JL-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 06d6341f-cb6d-4a7e-9213-c7bb394aca56 bf91785e-7b33-4bd0-8ff5-c20c20b4e985 g.chr14:73581037C>T ENST00000261973.7 + 18 2720 c.2435C>T c.(2434-2436)gCc>gTc p.A812V RBM25_ENST00000532483.1_3'UTR|RBM25_ENST00000527432.1_Missense_Mutation_p.A812V NM_021239.2 NP_067062.1 P49756 RBM25_HUMAN RNA binding motif protein 25 812 PWI. apoptosis|mRNA processing|regulation of alternative nuclear mRNA splicing, via spliceosome|RNA splicing cytoplasm|nuclear speck mRNA binding|nucleotide binding|protein binding breast(2)|central_nervous_system(2)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(7)|lung(6)|ovary(2)|pancreas(1) 31 BRCA - Breast invasive adenocarcinoma(234;0.00362)|OV - Ovarian serous cystadenocarcinoma(108;0.0688) GATGATGTTGCCATGGTAAGT 0.279000 70 194 0 0 0.000147903 0 0 KALRN 8997 broad.mit.edu 37 3 124420920 124420920 + Missense_Mutation SNP G G A TCGA-D3-A2JL-06A-11D-A196-08 TCGA-D3-A2JL-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 06d6341f-cb6d-4a7e-9213-c7bb394aca56 bf91785e-7b33-4bd0-8ff5-c20c20b4e985 g.chr3:124420920G>A ENST00000360013.3 + 57 8159 c.8032G>A c.(8032-8034)Gaa>Aaa p.E2678K KALRN_ENST00000291478.4_Missense_Mutation_p.E981K|KALRN_ENST00000428018.2_Missense_Mutation_p.E949K NM_001024660.3 NP_001019831.2 O60229 KALRN_HUMAN kalirin, RhoGEF kinase 2677 apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|nervous system development|regulation of Rho protein signal transduction|small GTPase mediated signal transduction|vesicle-mediated transport actin cytoskeleton|cytosol ATP binding|GTPase activator activity|metal ion binding|protein binding|protein serine/threonine kinase activity|Rho guanyl-nucleotide exchange factor activity NS(1)|breast(1)|central_nervous_system(1)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(21)|lung(28)|ovary(4)|prostate(5)|skin(6)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3) 83 TTCTTGGAAGGAAAATTTTGA 0.358000 18 50 0 0 0.000229342 0 0 OGDHL 55753 broad.mit.edu 37 10 50944148 50944148 + Missense_Mutation SNP C C T TCGA-D3-A2JL-06A-11D-A196-08 TCGA-D3-A2JL-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 06d6341f-cb6d-4a7e-9213-c7bb394aca56 bf91785e-7b33-4bd0-8ff5-c20c20b4e985 g.chr10:50944148C>T ENST00000374103.4 - 22 2915 c.2830G>A c.(2830-2832)Gag>Aag p.E944K OGDHL_ENST00000432695.1_Missense_Mutation_p.E735K|OGDHL_ENST00000490844.1_5'UTR|OGDHL_ENST00000419399.1_Missense_Mutation_p.E887K NM_018245.2 NP_060715.2 Q9ULD0 OGDHL_HUMAN oxoglutarate dehydrogenase-like 944 glycolysis mitochondrial matrix oxoglutarate dehydrogenase (succinyl-transferring) activity|thiamine pyrophosphate binding central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(14)|lung(30)|ovary(1)|pancreas(1)|prostate(2)|skin(1)|soft_tissue(1)|upper_aerodigestive_tract(1) 61 TTGTGCTCCTCCTGACACCAG 0.577000 12 23 0 0 6.40141e-05 0 0 GRPEL1 80273 broad.mit.edu 37 4 7062907 7062907 + Silent SNP C C T TCGA-D3-A2JL-06A-11D-A196-08 TCGA-D3-A2JL-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 06d6341f-cb6d-4a7e-9213-c7bb394aca56 bf91785e-7b33-4bd0-8ff5-c20c20b4e985 g.chr4:7062907C>T ENST00000264954.4 - 4 500 c.336G>A c.(334-336)ttG>ttA p.L112L GRPEL1_ENST00000514056.1_5'UTR NM_025196.2 NP_079472.1 Q9HAV7 GRPE1_HUMAN GrpE-like 1, mitochondrial (E. coli) 112 protein folding|protein import into mitochondrial matrix mitochondrial matrix adenyl-nucleotide exchange factor activity|chaperone binding|protein homodimerization activity|unfolded protein binding endometrium(1)|kidney(1)|large_intestine(2)|lung(1) 5 CTGCCACCTCCAACAAGTCCT 0.473000 47 113 0 0 0.000147903 0 0 AKT2 208 broad.mit.edu 37 19 40743886 40743886 + Missense_Mutation SNP C C G rs121434593 TCGA-D3-A2JL-06A-11D-A196-08 TCGA-D3-A2JL-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 06d6341f-cb6d-4a7e-9213-c7bb394aca56 bf91785e-7b33-4bd0-8ff5-c20c20b4e985 g.chr19:40743886C>G ENST00000392038.2 - 9 1119 c.821G>C c.(820-822)cGc>cCc p.R274P AKT2_ENST00000579047.1_Missense_Mutation_p.R212P|AKT2_ENST00000424901.1_Missense_Mutation_p.R274P|AKT2_ENST00000311278.6_Missense_Mutation_p.R274P NM_001243027.1|NM_001243028.1|NM_001626.4 NP_001229956.1|NP_001229957.1|NP_001617.1 P31751 AKT2_HUMAN v-akt murine thymoma viral oncogene homolog 2 274 Protein kinase. insulin receptor signaling pathway|negative regulation of plasma membrane long-chain fatty acid transport|positive regulation of fatty acid beta-oxidation|positive regulation of glucose import|positive regulation of glycogen biosynthetic process cytosol|nucleus ATP binding|protein binding|protein serine/threonine kinase activity breast(1)|cervix(1)|kidney(3)|large_intestine(9)|lung(10)|prostate(2)|skin(1) 27 Lung(22;0.000499) CTTGATGTCGCGGTATACCAC 0.597000 A """ovarian, pancreatic """ 36 63 0 0 0.000191422 0 0 SLC45A4 57210 broad.mit.edu 37 8 142229076 142229076 + Silent SNP G G A TCGA-D3-A2JL-06A-11D-A196-08 TCGA-D3-A2JL-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 06d6341f-cb6d-4a7e-9213-c7bb394aca56 bf91785e-7b33-4bd0-8ff5-c20c20b4e985 g.chr8:142229076G>A ENST00000519067.1 - 4 813 c.510C>T c.(508-510)acC>acT p.T170T SLC45A4_ENST00000433583.2_Silent_p.T163T|SLC45A4_ENST00000024061.3_Silent_p.T170T|SLC45A4_ENST00000517878.1_Silent_p.T221T Q5BKX6 S45A4_HUMAN solute carrier family 45, member 4 221 transport integral to membrane breast(1)|central_nervous_system(1)|endometrium(5)|kidney(2)|large_intestine(6)|lung(9)|ovary(3)|prostate(2)|skin(1)|upper_aerodigestive_tract(1) 31 all_cancers(97;1.52e-15)|all_epithelial(106;2.92e-14)|Lung NSC(106;1.23e-05)|all_lung(105;1.75e-05)|Ovarian(258;0.01)|Acute lymphoblastic leukemia(118;0.155) BRCA - Breast invasive adenocarcinoma(115;0.0493) TGCCCAGGAAGGTCTGGGTCC 0.657000 11 75 0 0 0.000219431 0 0 DUXA 503835 broad.mit.edu 37 19 57666693 57666693 + Silent SNP C C T TCGA-D3-A2JL-06A-11D-A196-08 TCGA-D3-A2JL-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 06d6341f-cb6d-4a7e-9213-c7bb394aca56 bf91785e-7b33-4bd0-8ff5-c20c20b4e985 g.chr19:57666693C>T ENST00000554048.2 - 5 485 c.486G>A c.(484-486)agG>agA p.R162R NM_001012729.1 NP_001012747.1 A6NLW8 DUXA_HUMAN double homeobox A 162 nucleus sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity breast(2)|central_nervous_system(1)|endometrium(1)|large_intestine(2)|lung(9)|ovary(1)|upper_aerodigestive_tract(1) 17 Colorectal(82;5.46e-05)|all_neural(62;0.0218)|Ovarian(87;0.0822)|Renal(1328;0.157) UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0123) CCACAGGTTCCCTTTTTCTCT 0.413000 13 70 0 0 5.01169e-05 0 0 SCN9A 6335 broad.mit.edu 37 2 167162385 167162385 + Silent SNP G G A TCGA-D3-A2JL-06A-11D-A196-08 TCGA-D3-A2JL-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 06d6341f-cb6d-4a7e-9213-c7bb394aca56 bf91785e-7b33-4bd0-8ff5-c20c20b4e985 g.chr2:167162385G>A ENST00000375387.4 - 5 856 c.516C>T c.(514-516)atC>atT p.I172I SCN9A_ENST00000409672.1_Silent_p.I171I|SCN9A_ENST00000303354.6_Silent_p.I172I|SCN9A_ENST00000409435.1_Silent_p.I171I Q15858 SCN9A_HUMAN sodium channel, voltage-gated, type IX, alpha subunit 171 voltage-gated sodium channel complex voltage-gated sodium channel activity NS(1)|breast(5)|central_nervous_system(6)|endometrium(6)|kidney(3)|large_intestine(27)|lung(38)|ovary(6)|prostate(8)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(2) 108 Lamotrigine(DB00555)|Lidocaine(DB00281) CTCTTGCAAGGATTTTTACAA 0.378000 16 45 0 0 0.000308642 0 0 COL22A1 169044 broad.mit.edu 37 8 139833559 139833559 + Silent SNP C C T TCGA-D3-A2JL-06A-11D-A196-08 TCGA-D3-A2JL-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 06d6341f-cb6d-4a7e-9213-c7bb394aca56 bf91785e-7b33-4bd0-8ff5-c20c20b4e985 g.chr8:139833559C>T ENST00000303045.6 - 7 1511 c.1065G>A c.(1063-1065)cgG>cgA p.R355R COL22A1_ENST00000435777.1_Silent_p.R355R NM_152888.1 NP_690848.1 Q8NFW1 COMA1_HUMAN collagen, type XXII, alpha 1 355 TSP N-terminal. cell adhesion collagen|cytoplasm structural molecule activity breast(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(2)|kidney(14)|large_intestine(29)|lung(107)|ovary(13)|pancreas(1)|prostate(3)|skin(12)|upper_aerodigestive_tract(15)|urinary_tract(4) 211 all_epithelial(106;1.55e-12)|Lung NSC(106;1.67e-05)|all_lung(105;3.39e-05)|Ovarian(258;0.00672)|Acute lymphoblastic leukemia(118;0.155) BRCA - Breast invasive adenocarcinoma(115;0.0517) GGTCATTGACCCGAGAACCTC 0.577000 HNSCC(7;0.00092) 10 30 0 0 3.86212e-05 0 0 DNAH10 196385 broad.mit.edu 37 12 124330613 124330613 + Missense_Mutation SNP C C T TCGA-D3-A2JL-06A-11D-A196-08 TCGA-D3-A2JL-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 06d6341f-cb6d-4a7e-9213-c7bb394aca56 bf91785e-7b33-4bd0-8ff5-c20c20b4e985 g.chr12:124330613C>T ENST00000409039.3 + 31 5397 c.5372C>T c.(5371-5373)aCc>aTc p.T1791I NM_207437.3 NP_997320.2 Q8IVF4 DYH10_HUMAN dynein, axonemal, heavy chain 10 1791 Stem (By similarity). microtubule-based movement cilium axoneme|cytoplasm|dynein complex|microtubule ATP binding|ATPase activity|microtubule motor activity breast(1)|central_nervous_system(1)|cervix(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|lung(14)|ovary(4)|prostate(2)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(1) 52 all_neural(191;0.101)|Medulloblastoma(191;0.163) OV - Ovarian serous cystadenocarcinoma(86;0.000207)|Epithelial(86;0.000556)|all cancers(50;0.00346) TGCACGGGAACCTTTGGCTAC 0.592000 28 63 0 0 0.000279167 0 0 XKR4 114786 broad.mit.edu 37 8 56436558 56436558 + Silent SNP G G A TCGA-D3-A2JL-06A-11D-A196-08 TCGA-D3-A2JL-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 06d6341f-cb6d-4a7e-9213-c7bb394aca56 bf91785e-7b33-4bd0-8ff5-c20c20b4e985 g.chr8:56436558G>A ENST00000327381.5 + 3 1825 c.1725G>A c.(1723-1725)gtG>gtA p.V575V NM_052898.1 NP_443130.1 Q5GH76 XKR4_HUMAN XK, Kell blood group complex subunit-related family, member 4 575 integral to membrane NS(1)|autonomic_ganglia(1)|endometrium(1)|kidney(3)|large_intestine(4)|liver(2)|lung(12)|ovary(1)|pancreas(2)|prostate(2)|skin(3)|upper_aerodigestive_tract(2) 34 Epithelial(17;0.000117)|all cancers(17;0.000836) TCTTTCAAGTGAGGCCCACTG 0.532000 28 42 0 0 0.000147802 0 0 OR7D4 125958 broad.mit.edu 37 19 9325039 9325039 + Missense_Mutation SNP G G A rs140587334 TCGA-D3-A2JL-06A-11D-A196-08 TCGA-D3-A2JL-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 06d6341f-cb6d-4a7e-9213-c7bb394aca56 bf91785e-7b33-4bd0-8ff5-c20c20b4e985 g.chr19:9325039G>A ENST00000308682.2 - 1 503 c.475C>T c.(475-477)Cat>Tat p.H159Y NM_001005191.2 NP_001005191.1 Q8NG98 OR7D4_HUMAN olfactory receptor, family 7, subfamily D, member 4 159 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity p.H159Y(1) breast(2)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(2)|lung(10)|ovary(2)|skin(3)|stomach(1) 26 AGTAGAATATGAACCAGGGAG 0.522000 14 32 0 0 0.000151284 0 0 ACTC1 70 broad.mit.edu 37 15 35084474 35084474 + Missense_Mutation SNP C C T TCGA-D3-A2JL-06A-11D-A196-08 TCGA-D3-A2JL-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 06d6341f-cb6d-4a7e-9213-c7bb394aca56 bf91785e-7b33-4bd0-8ff5-c20c20b4e985 g.chr15:35084474C>T ENST00000290378.4 - 5 1280 c.625G>A c.(625-627)Gaa>Aaa p.E209K RP11-814P5.1_ENST00000503496.1_RNA|ACTC1_ENST00000557860.1_5'UTR NM_005159.4 NP_005150.1 P68032 ACTC_HUMAN actin, alpha, cardiac muscle 1 209 apoptosis|cardiac muscle tissue morphogenesis|cardiac myofibril assembly|muscle filament sliding|skeletal muscle thin filament assembly actomyosin, actin part|cytosol|I band ATP binding|ATPase activity|myosin binding central_nervous_system(1)|endometrium(5)|kidney(1)|lung(14)|ovary(1)|prostate(2)|skin(4)|upper_aerodigestive_tract(3) 31 all_lung(180;2.3e-08) all cancers(64;5.83e-19)|GBM - Glioblastoma multiforme(113;1.98e-07)|BRCA - Breast invasive adenocarcinoma(123;0.0244) CGGACAATTTCACGTTCAGCT 0.468000 19 33 0 0 0.000229342 0 0 OR4K5 79317 broad.mit.edu 37 14 20389533 20389533 + Silent SNP C C T TCGA-D3-A2JL-06A-11D-A196-08 TCGA-D3-A2JL-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 06d6341f-cb6d-4a7e-9213-c7bb394aca56 bf91785e-7b33-4bd0-8ff5-c20c20b4e985 g.chr14:20389533C>T ENST00000315915.4 + 1 793 c.768C>T c.(766-768)ttC>ttT p.F256F NM_001005483.1 NP_001005483.1 Q8NGD3 OR4K5_HUMAN olfactory receptor, family 4, subfamily K, member 5 256 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(6)|liver(1)|lung(27)|ovary(1)|skin(3)|stomach(1)|urinary_tract(1) 47 all_cancers(95;0.00108) Epithelial(56;9.96e-07)|all cancers(55;2.95e-06) GBM - Glioblastoma multiforme(265;0.00327) CTTGCATCTTCATCTATGTGT 0.398000 21 55 0 0 0.000375601 0 0 XDH 7498 broad.mit.edu 37 2 31573079 31573079 + Missense_Mutation SNP C C T TCGA-D3-A2JL-06A-11D-A196-08 TCGA-D3-A2JL-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 06d6341f-cb6d-4a7e-9213-c7bb394aca56 bf91785e-7b33-4bd0-8ff5-c20c20b4e985 g.chr2:31573079C>T ENST00000379416.3 - 25 2690 c.2642G>A c.(2641-2643)cGa>cAa p.R881Q NM_000379.3 NP_000370.2 P47989 XDH_HUMAN xanthine dehydrogenase 881 purine nucleotide catabolic process|xanthine catabolic process cytosol|extracellular region|peroxisome 2 iron, 2 sulfur cluster binding|electron carrier activity|flavin adenine dinucleotide binding|iron ion binding|molybdopterin cofactor binding|protein homodimerization activity|xanthine dehydrogenase activity|xanthine oxidase activity p.R881Q(1) breast(3)|central_nervous_system(2)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(13)|lung(31)|ovary(1)|pancreas(1)|prostate(3)|skin(9)|urinary_tract(1) 74 Acute lymphoblastic leukemia(172;0.155) Allopurinol(DB00437)|Carvedilol(DB01136)|Daunorubicin(DB00694)|Deferoxamine(DB00746)|Desflurane(DB01189)|Menadione(DB00170)|Mercaptopurine(DB01033)|Methotrexate(DB00563)|NADH(DB00157)|Nitrofurazone(DB00336)|Papaverine(DB01113)|Procarbazine(DB01168)|Pyrazinamide(DB00339)|Rasburicase(DB00049)|Spermine(DB00127)|Trifluoperazine(DB00831)|Vitamin E(DB00163) GAATAAAGCTCGTTCCATAAT 0.498000 7 29 0 0 8.12818e-05 0 0 USP43 124739 broad.mit.edu 37 17 9632267 9632267 + Missense_Mutation SNP C C T TCGA-D3-A2JL-06A-11D-A196-08 TCGA-D3-A2JL-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 06d6341f-cb6d-4a7e-9213-c7bb394aca56 bf91785e-7b33-4bd0-8ff5-c20c20b4e985 g.chr17:9632267C>T ENST00000570827.2 + 15 3473 c.2399C>T c.(2398-2400)tCt>tTt p.S800F USP43_ENST00000285199.6_Missense_Mutation_p.S1111F|USP43_ENST00000570475.1_Missense_Mutation_p.S1106F Q70EL4 UBP43_HUMAN ubiquitin specific peptidase 43 1111 ubiquitin-dependent protein catabolic process cysteine-type peptidase activity|ubiquitin thiolesterase activity breast(2)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(5)|ovary(2)|upper_aerodigestive_tract(3)|urinary_tract(2) 26 CACACTCTTTCTTTAGGTCGA 0.507000 OREG0024168 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 29 154 0 0 0.000339439 0 0 PRKCZ 5590 broad.mit.edu 37 1 2103786 2103786 + Missense_Mutation SNP C C T TCGA-D3-A2JL-06A-11D-A196-08 TCGA-D3-A2JL-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 06d6341f-cb6d-4a7e-9213-c7bb394aca56 bf91785e-7b33-4bd0-8ff5-c20c20b4e985 g.chr1:2103786C>T ENST00000400921.2 + 10 1378 c.695C>T c.(694-696)cCg>cTg p.P232L PRKCZ_ENST00000400920.1_Missense_Mutation_p.P232L|PRKCZ_ENST00000479263.1_3'UTR NM_001033581.1 NP_001028753.1 Q05513 KPCZ_HUMAN protein kinase C, zeta 415 anti-apoptosis|intracellular signal transduction|negative regulation of insulin receptor signaling pathway|negative regulation of peptidyl-tyrosine phosphorylation|negative regulation of protein complex assembly|peptidyl-serine phosphorylation|platelet activation endosome ATP binding|protein kinase C activity|zinc ion binding breast(2)|central_nervous_system(4)|endometrium(1)|large_intestine(5)|lung(5)|stomach(1) 18 all_cancers(77;0.000177)|all_epithelial(69;6.41e-05)|all_lung(157;0.00963)|Lung NSC(156;0.0232)|Ovarian(185;0.0634) all_epithelial(116;1.14e-19)|all_lung(118;1.22e-08)|Lung NSC(185;1.24e-06)|Renal(390;0.00183)|Breast(487;0.00354)|Hepatocellular(190;0.00826)|Myeloproliferative disorder(586;0.0122)|Ovarian(437;0.0308)|Medulloblastoma(700;0.123)|Lung SC(97;0.128) Epithelial(90;2.96e-37)|OV - Ovarian serous cystadenocarcinoma(86;3.3e-23)|GBM - Glioblastoma multiforme(42;2.85e-08)|Colorectal(212;6.15e-05)|COAD - Colon adenocarcinoma(227;0.000241)|Kidney(185;0.00294)|BRCA - Breast invasive adenocarcinoma(365;0.00493)|STAD - Stomach adenocarcinoma(132;0.00669)|KIRC - Kidney renal clear cell carcinoma(229;0.0411)|Lung(427;0.213) TGCGGAACCCCGAATTACATC 0.637000 8 14 0 0 3.86212e-05 0 0 IGSF1 3547 broad.mit.edu 37 X 130419794 130419794 + Nonsense_Mutation SNP C C T TCGA-D3-A2JL-06A-11D-A196-08 TCGA-D3-A2JL-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 06d6341f-cb6d-4a7e-9213-c7bb394aca56 bf91785e-7b33-4bd0-8ff5-c20c20b4e985 g.chrX:130419794C>T ENST00000370904.1 - 10 1209 c.299G>A c.(298-300)tGg>tAg p.W100* IGSF1_ENST00000361420.3_Nonsense_Mutation_p.W109*|IGSF1_ENST00000370900.1_Nonsense_Mutation_p.W109*|IGSF1_ENST00000370903.3_Nonsense_Mutation_p.W109*|IGSF1_ENST00000370910.1_Nonsense_Mutation_p.W100*|IGSF1_ENST00000370901.4_Nonsense_Mutation_p.W109* Q8N6C5 IGSF1_HUMAN immunoglobulin superfamily, member 1 109 Ig-like C2-type 1. regulation of transcription, DNA-dependent extracellular region|integral to membrane inhibin beta-A binding|inhibin beta-B binding breast(2)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(15)|liver(1)|lung(37)|ovary(4)|skin(3)|upper_aerodigestive_tract(2) 78 TGTCTCCTTCCAGTAGCAGCA 0.498000 42 73 0 0 0.000437636 0 0 C1QTNF8 390664 broad.mit.edu 37 16 1144728 1144728 + Silent SNP G G A TCGA-D3-A2JL-06A-11D-A196-08 TCGA-D3-A2JL-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 06d6341f-cb6d-4a7e-9213-c7bb394aca56 bf91785e-7b33-4bd0-8ff5-c20c20b4e985 g.chr16:1144728G>A ENST00000328449.5 - 3 468 c.195C>T c.(193-195)atC>atT p.I65I NM_207419.3 NP_997302.2 P60827 C1QT8_HUMAN C1q and tumor necrosis factor related protein 8 65 collagen lung(2)|prostate(1)|skin(1) 4 Hepatocellular(780;0.00369) TGAGGATTTCGATGTCTATAG 0.672000 18 15 0 0 9.7654e-05 0 0 ULK4 54986 broad.mit.edu 37 3 41860970 41860970 + Missense_Mutation SNP C C G TCGA-D3-A2JL-06A-11D-A196-08 TCGA-D3-A2JL-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 06d6341f-cb6d-4a7e-9213-c7bb394aca56 bf91785e-7b33-4bd0-8ff5-c20c20b4e985 g.chr3:41860970C>G ENST00000301831.4 - 19 2255 c.1793G>C c.(1792-1794)tGc>tCc p.C598S NM_017886.2 NP_060356.2 Q96C45 ULK4_HUMAN unc-51 like kinase 4 598 ATP binding|protein serine/threonine kinase activity breast(2)|cervix(1)|large_intestine(6)|lung(7)|prostate(5)|skin(1) 22 KIRC - Kidney renal clear cell carcinoma(284;0.214) AACAGCCCAGCACTCTCTAGG 0.433000 10 17 0 0 0.000151284 0 0 OR8J3 81168 broad.mit.edu 37 11 55904804 55904804 + Missense_Mutation SNP G G A TCGA-D3-A2JL-06A-11D-A196-08 TCGA-D3-A2JL-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 06d6341f-cb6d-4a7e-9213-c7bb394aca56 bf91785e-7b33-4bd0-8ff5-c20c20b4e985 g.chr11:55904804G>A ENST00000301529.1 - 1 390 c.391C>T c.(391-393)Ctc>Ttc p.L131F NM_001004064.1 NP_001004064.1 Q8NGG0 OR8J3_HUMAN olfactory receptor, family 8, subfamily J, member 3 131 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity NS(1)|breast(2)|central_nervous_system(1)|endometrium(5)|kidney(3)|large_intestine(1)|lung(38)|pancreas(1)|prostate(1)|skin(2)|stomach(3)|upper_aerodigestive_tract(1) 59 Esophageal squamous(21;0.00693) ACCATGTAGAGCAGAGGGTTA 0.502000 23 55 0 0 0.000375601 0 0 PKHD1L1 93035 broad.mit.edu 37 8 110509266 110509266 + Missense_Mutation SNP G G C TCGA-D3-A2JL-06A-11D-A196-08 TCGA-D3-A2JL-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 06d6341f-cb6d-4a7e-9213-c7bb394aca56 bf91785e-7b33-4bd0-8ff5-c20c20b4e985 g.chr8:110509266G>C ENST00000378402.5 + 64 10550 c.10446G>C c.(10444-10446)tgG>tgC p.W3482C NM_177531.4 NP_803875.2 Q86WI1 PKHL1_HUMAN polycystic kidney and hepatic disease 1 (autosomal recessive)-like 1 3482 immune response cytosol|extracellular space|integral to membrane receptor activity NS(4)|breast(13)|central_nervous_system(6)|cervix(1)|endometrium(19)|kidney(17)|large_intestine(34)|lung(122)|ovary(11)|pancreas(3)|prostate(9)|skin(3)|stomach(4)|upper_aerodigestive_tract(13)|urinary_tract(4) 263 OV - Ovarian serous cystadenocarcinoma(57;9.88e-13) TTACCATTTGGACATGCTGGG 0.338000 HNSCC(38;0.096) 26 81 0 0 5.49717e-05 0 0 NCAPH 23397 broad.mit.edu 37 2 97007508 97007508 + Missense_Mutation SNP C C T TCGA-D3-A2JL-06A-11D-A196-08 TCGA-D3-A2JL-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 06d6341f-cb6d-4a7e-9213-c7bb394aca56 bf91785e-7b33-4bd0-8ff5-c20c20b4e985 g.chr2:97007508C>T ENST00000455200.1 + 2 410 c.115C>T c.(115-117)Cca>Tca p.P39S NCAPH_ENST00000427946.1_Intron|NCAPH_ENST00000240423.4_Missense_Mutation_p.P50S Q15003 CND2_HUMAN non-SMC condensin I complex, subunit H 50 cell division|mitotic chromosome condensation condensin complex|cytoplasm|microtubule cytoskeleton|nucleus haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(11)|ovary(1)|prostate(1)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 28 Ovarian(717;0.0221) TCCTGGCACCCCAGTCCTCGA 0.597000 28 66 0 0 0.000227799 0 0 EPHB1 2047 broad.mit.edu 37 3 134898763 134898763 + Silent SNP C C T TCGA-D3-A2JL-06A-11D-A196-08 TCGA-D3-A2JL-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 06d6341f-cb6d-4a7e-9213-c7bb394aca56 bf91785e-7b33-4bd0-8ff5-c20c20b4e985 g.chr3:134898763C>T ENST00000398015.3 + 10 2191 c.1821C>T c.(1819-1821)gtC>gtT p.V607V EPHB1_ENST00000493838.1_Silent_p.V168V NM_004441.4 NP_004432.1 P54762 EPHB1_HUMAN EPH receptor B1 607 integral to plasma membrane ATP binding|ephrin receptor activity|protein binding NS(1)|breast(3)|central_nervous_system(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(13)|lung(63)|ovary(8)|pancreas(2)|prostate(8)|skin(7)|stomach(4)|upper_aerodigestive_tract(4)|urinary_tract(2) 130 ACGAAGCTGTCCGGGAGTTTG 0.483000 38 72 0 0 0.000228196 0 0 TNFRSF12A 51330 broad.mit.edu 37 16 3070469 3070469 + Missense_Mutation SNP C C T TCGA-D3-A2JL-06A-11D-A196-08 TCGA-D3-A2JL-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 06d6341f-cb6d-4a7e-9213-c7bb394aca56 bf91785e-7b33-4bd0-8ff5-c20c20b4e985 g.chr16:3070469C>T ENST00000575124.1 + 1 94 c.71C>T c.(70-72)tCc>tTc p.S24F TNFRSF12A_ENST00000573001.1_Intron|TNFRSF12A_ENST00000326577.4_Missense_Mutation_p.S24F|TNFRSF12A_ENST00000341627.5_Missense_Mutation_p.S24F Q9NP84 TNR12_HUMAN tumor necrosis factor receptor superfamily, member 12A 24 angiogenesis|apoptosis integral to membrane receptor activity lung(1)|skin(1) 2 TTGCTGCGCTCCGTGGCCGGG 0.746000 4 17 0 0 0.00024832 0 0 RADIL 55698 broad.mit.edu 37 7 4841434 4841434 + Missense_Mutation SNP C C T TCGA-D3-A2JL-06A-11D-A196-08 TCGA-D3-A2JL-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 06d6341f-cb6d-4a7e-9213-c7bb394aca56 bf91785e-7b33-4bd0-8ff5-c20c20b4e985 g.chr7:4841434C>T ENST00000399583.3 - 12 2879 c.2692G>A c.(2692-2694)Gac>Aac p.D898N RADIL_ENST00000536091.1_3'UTR|RADIL_ENST00000538469.1_Missense_Mutation_p.D658N NM_018059.4 NP_060529.4 Q96JH8 RADIL_HUMAN Ras association and DIL domains 898 Pro-rich. cell adhesion|multicellular organismal development|signal transduction protein binding NS(1)|biliary_tract(2)|breast(1)|central_nervous_system(3)|endometrium(2)|large_intestine(2)|lung(22)|pancreas(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 41 Ovarian(82;0.0175) UCEC - Uterine corpus endometrioid carcinoma (126;0.0986)|OV - Ovarian serous cystadenocarcinoma(56;7.41e-15) CAGGACGAGTCCGTGTGCGGG 0.721000 10 16 0 0 0.000219431 0 0 ANK3 288 broad.mit.edu 37 10 61834169 61834169 + Missense_Mutation SNP G G A TCGA-D3-A2JL-06A-11D-A196-08 TCGA-D3-A2JL-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 06d6341f-cb6d-4a7e-9213-c7bb394aca56 bf91785e-7b33-4bd0-8ff5-c20c20b4e985 g.chr10:61834169G>A ENST00000280772.1 - 37 6661 c.6470C>T c.(6469-6471)cCc>cTc p.P2157L ANK3_ENST00000355288.2_Intron|ANK3_ENST00000373827.2_Intron|ANK3_ENST00000503366.1_Intron NM_020987.3 NP_066267.2 Q12955 ANK3_HUMAN ankyrin 3, node of Ranvier (ankyrin G) 2157 establishment of protein localization|signal transduction basolateral plasma membrane|cytoplasm|cytoskeleton protein binding NS(4)|breast(7)|central_nervous_system(5)|endometrium(19)|haematopoietic_and_lymphoid_tissue(5)|kidney(14)|large_intestine(30)|liver(2)|lung(59)|ovary(8)|pancreas(2)|prostate(5)|skin(26)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(7) 196 AGGAGGGATGGGAACTTCATG 0.483000 4 18 0 0 0.00024832 0 0 PLEC 5339 broad.mit.edu 37 8 144993494 144993494 + Missense_Mutation SNP T T C TCGA-D3-A2JL-06A-11D-A196-08 TCGA-D3-A2JL-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 06d6341f-cb6d-4a7e-9213-c7bb394aca56 bf91785e-7b33-4bd0-8ff5-c20c20b4e985 g.chr8:144993494T>C ENST00000322810.4 - 32 11075 c.10906A>G c.(10906-10908)Aac>Gac p.N3636D PLEC_ENST00000356346.3_Missense_Mutation_p.N3485D|PLEC_ENST00000357649.2_Missense_Mutation_p.N3503D|PLEC_ENST00000398774.2_Missense_Mutation_p.N3467D|PLEC_ENST00000436759.2_Missense_Mutation_p.N3526D|PLEC_ENST00000354958.2_Missense_Mutation_p.N3477D|PLEC_ENST00000345136.3_Missense_Mutation_p.N3499D|PLEC_ENST00000527096.1_Missense_Mutation_p.N3522D|PLEC_ENST00000354589.3_Missense_Mutation_p.N3499D NM_201380.2 NP_958782.1 Q15149 PLEC_HUMAN plectin 3636 Globular 2. cellular component disassembly involved in apoptosis|hemidesmosome assembly cytosol|focal adhesion|hemidesmosome|intermediate filament cytoskeleton|sarcolemma actin binding|structural constituent of muscle NS(1)|breast(3)|central_nervous_system(4)|cervix(7)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(8)|lung(57)|ovary(4)|pancreas(2)|prostate(11)|skin(9)|stomach(2)|upper_aerodigestive_tract(10) 137 AGGACGCGGTTCATCTCCTCA 0.657000 28 64 0 0 0.000117367 0 0 FCGBP 8857 broad.mit.edu 37 19 40421209 40421209 + Silent SNP C C T TCGA-D3-A2JL-06A-11D-A196-08 TCGA-D3-A2JL-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 06d6341f-cb6d-4a7e-9213-c7bb394aca56 bf91785e-7b33-4bd0-8ff5-c20c20b4e985 g.chr19:40421209C>T ENST00000221347.6 - 5 2719 c.2712G>A c.(2710-2712)cgG>cgA p.R904R NM_003890.2 NP_003881.2 Q9Y6R7 FCGBP_HUMAN Fc fragment of IgG binding protein 904 VWFD 2. extracellular region protein binding NS(3)|autonomic_ganglia(1)|breast(7)|central_nervous_system(5)|endometrium(13)|kidney(9)|large_intestine(27)|lung(49)|ovary(8)|pancreas(3)|prostate(13)|skin(9)|stomach(9)|upper_aerodigestive_tract(6)|urinary_tract(3) 165 all_cancers(60;6.03e-06)|all_lung(34;5.58e-08)|Lung NSC(34;6.62e-08)|Ovarian(47;0.06) Epithelial(26;6.25e-23)|all cancers(26;1.13e-20) CCACCAGCACCCGGAAGGCAG 0.682000 4 19 0 0 0.00024832 0 0 MUC16 94025 broad.mit.edu 37 19 9073985 9073985 + Silent SNP G G A TCGA-D3-A2JL-06A-11D-A196-08 TCGA-D3-A2JL-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 06d6341f-cb6d-4a7e-9213-c7bb394aca56 bf91785e-7b33-4bd0-8ff5-c20c20b4e985 g.chr19:9073985G>A ENST00000397910.4 - 3 13664 c.13461C>T c.(13459-13461)acC>acT p.T4487T NM_024690.2 NP_078966.2 Q8WXI7 MUC16_HUMAN mucin 16, cell surface associated 4489 Thr-rich. cell adhesion extracellular space|extrinsic to membrane|integral to membrane|plasma membrane protein binding NS(9)|autonomic_ganglia(1)|breast(26)|central_nervous_system(11)|cervix(1)|endometrium(46)|haematopoietic_and_lymphoid_tissue(5)|kidney(35)|large_intestine(91)|liver(1)|lung(278)|ovary(17)|pancreas(2)|prostate(17)|skin(18)|soft_tissue(1)|stomach(8)|upper_aerodigestive_tract(16)|urinary_tract(7) 590 CCAGTCCAGAGGTAAGAACTG 0.458000 10 14 0 0 0.000219431 0 0 ARSD 414 broad.mit.edu 37 X 2825553 2825553 + Missense_Mutation SNP G G A TCGA-D3-A2JL-06A-11D-A196-08 TCGA-D3-A2JL-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 06d6341f-cb6d-4a7e-9213-c7bb394aca56 bf91785e-7b33-4bd0-8ff5-c20c20b4e985 g.chrX:2825553G>A ENST00000381154.1 - 10 1616 c.1541C>T c.(1540-1542)cCt>cTt p.P514L NM_001669.3 NP_001660.2 P51689 ARSD_HUMAN arylsulfatase D 514 lysosome arylsulfatase activity|metal ion binding large_intestine(3)|lung(3) 6 all_cancers(21;4.28e-07)|all_epithelial(21;2.07e-08)|all_lung(23;2.81e-05)|Lung NSC(23;0.000693)|Lung SC(21;0.122) AAAGAGCAAAGGGGGTCTGTG 0.692000 4 11 0 0 1.23904e-05 0 0 KCNK10 54207 broad.mit.edu 37 14 88654351 88654351 + Missense_Mutation SNP C C T TCGA-D3-A2JL-06A-11D-A196-08 TCGA-D3-A2JL-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 06d6341f-cb6d-4a7e-9213-c7bb394aca56 bf91785e-7b33-4bd0-8ff5-c20c20b4e985 g.chr14:88654351C>T ENST00000340700.5 - 6 1407 c.956G>A c.(955-957)gGa>gAa p.G319E KCNK10_ENST00000312350.5_Missense_Mutation_p.G324E|KCNK10_ENST00000319231.5_Missense_Mutation_p.G324E NM_021161.4 NP_066984.1 P57789 KCNKA_HUMAN potassium channel, subfamily K, member 10 319 signal transduction integral to membrane potassium channel activity|voltage-gated ion channel activity breast(1)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(5)|lung(25)|ovary(3)|pancreas(2)|prostate(2)|skin(4)|upper_aerodigestive_tract(1) 47 TAGCCAATCTCCGATCATACT 0.478000 75 110 0 0 0.000147903 0 0 AFM 173 broad.mit.edu 37 4 74351594 74351594 + Missense_Mutation SNP G G A TCGA-D3-A2JL-06A-11D-A196-08 TCGA-D3-A2JL-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 06d6341f-cb6d-4a7e-9213-c7bb394aca56 bf91785e-7b33-4bd0-8ff5-c20c20b4e985 g.chr4:74351594G>A ENST00000226355.3 + 4 379 c.286G>A c.(286-288)Gaa>Aaa p.E96K NM_001133.2 NP_001124.1 P43652 AFAM_HUMAN afamin 96 Albumin 1. vitamin transport vitamin E binding breast(2)|central_nervous_system(2)|endometrium(2)|kidney(1)|large_intestine(8)|lung(9)|ovary(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2) 32 Breast(15;0.00102) Epithelial(6;5.69e-05)|OV - Ovarian serous cystadenocarcinoma(6;0.000324)|all cancers(17;0.000555)|Lung(101;0.103)|LUSC - Lung squamous cell carcinoma(112;0.154) TGTTTTACAGGAAAAAATATG 0.348000 6 25 0 0 8.12818e-05 0 0 AK7 122481 broad.mit.edu 37 14 96949417 96949417 + Missense_Mutation SNP G G A TCGA-D3-A2JL-06A-11D-A196-08 TCGA-D3-A2JL-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 06d6341f-cb6d-4a7e-9213-c7bb394aca56 bf91785e-7b33-4bd0-8ff5-c20c20b4e985 g.chr14:96949417G>A ENST00000267584.4 + 16 1879 c.1835G>A c.(1834-1836)gGt>gAt p.G612D NM_152327.3 NP_689540.2 Q96M32 KAD7_HUMAN adenylate kinase 7 612 cell projection organization cytosol adenylate kinase activity|ATP binding|cytidylate kinase activity breast(2)|cervix(2)|endometrium(3)|large_intestine(8)|lung(11)|ovary(1)|prostate(2)|skin(1)|urinary_tract(1) 31 all_cancers(154;0.0482)|all_epithelial(191;0.128)|Melanoma(154;0.155) Epithelial(152;0.134)|COAD - Colon adenocarcinoma(157;0.228) CGAAATTATGGTTTAACAGAC 0.507000 56 112 0 0 0.000147903 0 0 CASS4 57091 broad.mit.edu 37 20 55012333 55012333 + Silent SNP T T C TCGA-D3-A2JL-06A-11D-A196-08 TCGA-D3-A2JL-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 06d6341f-cb6d-4a7e-9213-c7bb394aca56 bf91785e-7b33-4bd0-8ff5-c20c20b4e985 g.chr20:55012333T>C ENST00000371336.3 + 2 351 c.150T>C c.(148-150)ggT>ggC p.G50G CASS4_ENST00000360314.3_Silent_p.G50G|CASS4_ENST00000434344.1_Silent_p.G50G NM_001164114.1|NM_020356.3 NP_001157586.1|NP_065089.2 Q9NQ75 CASS4_HUMAN Cas scaffolding protein family member 4 50 SH3. cell adhesion cytoplasm|cytoskeleton|focal adhesion two-component sensor activity breast(1)|endometrium(5)|kidney(1)|large_intestine(7)|lung(26)|ovary(4)|prostate(3)|skin(5)|stomach(1)|urinary_tract(1) 54 AAAGCGAGGGTTGGTGGAAGT 0.607000 41 58 0 0 0.000147903 0 0 RCE1 9986 broad.mit.edu 37 11 66613398 66613398 + Silent SNP G G A rs139646297 TCGA-D3-A2JL-06A-11D-A196-08 TCGA-D3-A2JL-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 06d6341f-cb6d-4a7e-9213-c7bb394aca56 bf91785e-7b33-4bd0-8ff5-c20c20b4e985 g.chr11:66613398G>A ENST00000309657.3 + 8 866 c.822G>A c.(820-822)gcG>gcA p.A274A RCE1_ENST00000524506.1_Silent_p.A253A|RCE1_ENST00000525356.1_Silent_p.A151A NM_001032279.1|NM_005133.2 NP_001027450.1|NP_005124.1 Q9Y256 FACE2_HUMAN Ras converting CAAX endopeptidase 1 274 proteolysis endoplasmic reticulum membrane|integral to plasma membrane metalloendopeptidase activity breast(2)|kidney(1)|large_intestine(2)|lung(2)|ovary(1)|prostate(1)|skin(1) 10 CTGTTTGCGCGGCCTTGGAGC 0.617000 12 73 0 0 0.000151284 0 0 EXTL1 2134 broad.mit.edu 37 1 26360198 26360198 + Silent SNP C C T TCGA-D3-A2JL-06A-11D-A196-08 TCGA-D3-A2JL-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 06d6341f-cb6d-4a7e-9213-c7bb394aca56 bf91785e-7b33-4bd0-8ff5-c20c20b4e985 g.chr1:26360198C>T ENST00000374280.3 + 9 2397 c.1530C>T c.(1528-1530)gcC>gcT p.A510A NM_004455.2 NP_004446.2 Q92935 EXTL1_HUMAN exostosin-like glycosyltransferase 1 510 skeletal system development integral to membrane|intrinsic to endoplasmic reticulum membrane glucuronosyl-N-acetylglucosaminyl-proteoglycan 4-alpha-N-acetylglucosaminyltransferase activity|protein binding central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(4)|lung(10)|ovary(1)|stomach(1)|urinary_tract(1) 23 Colorectal(325;3.46e-05)|Lung NSC(340;6.18e-05)|all_lung(284;9.43e-05)|Renal(390;0.0007)|Ovarian(437;0.00473)|Breast(348;0.0155)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0298) UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|OV - Ovarian serous cystadenocarcinoma(117;6.44e-26)|Colorectal(126;2.96e-08)|COAD - Colon adenocarcinoma(152;1.7e-06)|KIRC - Kidney renal clear cell carcinoma(1967;0.000716)|BRCA - Breast invasive adenocarcinoma(304;0.000954)|STAD - Stomach adenocarcinoma(196;0.00151)|GBM - Glioblastoma multiforme(114;0.00594)|READ - Rectum adenocarcinoma(331;0.0649) TGGACTTTGCCTTTCTGGTGT 0.597000 70 144 0 0 0.000147903 0 0 PTGFR 5737 broad.mit.edu 37 1 78958726 78958726 + Missense_Mutation SNP C C T TCGA-D3-A2JL-06A-11D-A196-08 TCGA-D3-A2JL-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 06d6341f-cb6d-4a7e-9213-c7bb394aca56 bf91785e-7b33-4bd0-8ff5-c20c20b4e985 g.chr1:78958726C>T ENST00000370756.3 + 2 535 c.298C>T c.(298-300)Cgc>Tgc p.R100C PTGFR_ENST00000370757.3_Missense_Mutation_p.R100C|PTGFR_ENST00000370758.1_Missense_Mutation_p.R100C NM_001039585.1 NP_001034674.1 P43088 PF2R_HUMAN prostaglandin F receptor (FP) 100 parturition extracellular region|integral to plasma membrane prostaglandin F receptor activity breast(6)|endometrium(2)|kidney(1)|large_intestine(6)|lung(11)|ovary(3)|prostate(1)|skin(2)|urinary_tract(1) 33 Colorectal(170;0.248) Bimatoprost(DB00905)|Latanoprost(DB00654)|Travoprost(DB00287) AGAATGGATCCGCTTTGACCA 0.443000 54 122 0 0 0.000147903 0 0 AOC3 8639 broad.mit.edu 37 17 41004022 41004022 + Missense_Mutation SNP G G A TCGA-D3-A2JL-06A-11D-A196-08 TCGA-D3-A2JL-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 06d6341f-cb6d-4a7e-9213-c7bb394aca56 bf91785e-7b33-4bd0-8ff5-c20c20b4e985 g.chr17:41004022G>A ENST00000308423.2 + 1 822 c.662G>A c.(661-663)gGg>gAg p.G221E NM_003734.2 NP_003725.1 Q16853 AOC3_HUMAN amine oxidase, copper containing 3 221 amine metabolic process|cell adhesion|inflammatory response cell surface|integral to membrane|plasma membrane aliphatic-amine oxidase activity|aminoacetone:oxygen oxidoreductase(deaminating) activity|copper ion binding|phenethylamine:oxygen oxidoreductase (deaminating) activity|primary amine oxidase activity|protein homodimerization activity|quinone binding|tryptamine:oxygen oxidoreductase (deaminating) activity breast(1)|central_nervous_system(4)|endometrium(4)|kidney(1)|large_intestine(8)|lung(14)|ovary(1)|skin(8) 41 Breast(137;0.000143) BRCA - Breast invasive adenocarcinoma(366;0.156) Hydralazine(DB01275)|Phenelzine(DB00780) CTGCAATCAGGGGACCGGGCC 0.612000 6 36 0 0 8.12818e-05 0 0 STYK1 55359 broad.mit.edu 37 12 10783853 10783853 + Missense_Mutation SNP C C T TCGA-D3-A2JL-06A-11D-A196-08 TCGA-D3-A2JL-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 06d6341f-cb6d-4a7e-9213-c7bb394aca56 bf91785e-7b33-4bd0-8ff5-c20c20b4e985 g.chr12:10783853C>T ENST00000075503.3 - 5 762 c.242G>A c.(241-243)gGa>gAa p.G81E NM_018423.2 NP_060893.2 Q6J9G0 STYK1_HUMAN serine/threonine/tyrosine kinase 1 81 integral to membrane|plasma membrane ATP binding|non-membrane spanning protein tyrosine kinase activity breast(1)|central_nervous_system(3)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(1)|liver(1)|lung(8)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(3) 26 AGCCACATTTCCTCCATGTCC 0.557000 HNSCC(73;0.22) 32 49 0 0 0.000109025 0 0 ACTL6A 86 broad.mit.edu 37 3 179287645 179287645 + Missense_Mutation SNP C C T TCGA-D3-A2JL-06A-11D-A196-08 TCGA-D3-A2JL-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 06d6341f-cb6d-4a7e-9213-c7bb394aca56 bf91785e-7b33-4bd0-8ff5-c20c20b4e985 g.chr3:179287645C>T ENST00000429709.2 + 2 272 c.59C>T c.(58-60)tCc>tTc p.S20F ACTL6A_ENST00000392662.1_5'UTR|ACTL6A_ENST00000450518.2_5'UTR NM_004301.3 NP_004292.1 O96019 ACL6A_HUMAN actin-like 6A 20 chromatin remodeling|DNA recombination|DNA repair|histone H2A acetylation|histone H4 acetylation|nervous system development|regulation of growth|regulation of transcription, DNA-dependent|signal transduction|transcription, DNA-dependent Ino80 complex|npBAF complex|NuA4 histone acetyltransferase complex|plasma membrane|SWI/SNF complex ATP binding|chromatin binding central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(5)|lung(8)|ovary(1)|urinary_tract(1) 21 all_cancers(143;3.94e-16)|Ovarian(172;0.0172)|Breast(254;0.191) OV - Ovarian serous cystadenocarcinoma(80;5.98e-26)|GBM - Glioblastoma multiforme(14;0.0169) GACATTGGATCCTATACTGTG 0.353000 47 66 0 0 0.000147903 0 0 RP1 6101 broad.mit.edu 37 8 55541396 55541396 + Missense_Mutation SNP C C T rs151328121 byFrequency TCGA-D3-A2JL-06A-11D-A196-08 TCGA-D3-A2JL-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 06d6341f-cb6d-4a7e-9213-c7bb394aca56 bf91785e-7b33-4bd0-8ff5-c20c20b4e985 g.chr8:55541396C>T ENST00000220676.1 + 4 5102 c.4954C>T c.(4954-4956)Cgc>Tgc p.R1652C NM_006269.1 NP_006260.1 P56715 RP1_HUMAN retinitis pigmentosa 1 (autosomal dominant) 1652 R -> L (in RP1; uncertain pathogenicity). axoneme assembly|intracellular signal transduction|photoreceptor cell maintenance|photoreceptor cell outer segment organization|phototransduction, visible light|retinal cone cell development|retinal rod cell development cilium axoneme|cytoplasm|microtubule|microtubule associated complex|photoreceptor connecting cilium|photoreceptor inner segment|photoreceptor outer segment microtubule binding NS(4)|breast(6)|central_nervous_system(2)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(4)|kidney(7)|large_intestine(29)|lung(69)|ovary(6)|pancreas(1)|prostate(9)|skin(17)|upper_aerodigestive_tract(3)|urinary_tract(2) 169 all_lung(136;0.0831)|Lung NSC(129;0.109)|all_epithelial(80;0.123) OV - Ovarian serous cystadenocarcinoma(7;4.4e-07)|Epithelial(17;3.37e-05)|all cancers(17;0.000285) TGGGTCTACCCGCAAATCTCA 0.373000 37 64 0 0 0.000132358 0 0 DDX51 317781 broad.mit.edu 37 12 132627336 132627336 + Missense_Mutation SNP G G A TCGA-D3-A2JL-06A-11D-A196-08 TCGA-D3-A2JL-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 06d6341f-cb6d-4a7e-9213-c7bb394aca56 bf91785e-7b33-4bd0-8ff5-c20c20b4e985 g.chr12:132627336G>A ENST00000397333.3 - 3 645 c.607C>T c.(607-609)Cct>Tct p.P203S NM_175066.3 NP_778236.2 Q8N8A6 DDX51_HUMAN DEAD (Asp-Glu-Ala-Asp) box polypeptide 51 203 rRNA processing nucleolus ATP binding|ATP-dependent helicase activity|RNA binding endometrium(1)|lung(5)|ovary(2)|pancreas(1)|upper_aerodigestive_tract(1) 10 all_neural(191;0.0982)|Medulloblastoma(191;0.163) all_epithelial(31;0.241) OV - Ovarian serous cystadenocarcinoma(86;7.59e-08)|Epithelial(86;3.62e-07)|all cancers(50;2.13e-05) TGGACGTCAGGGATGTCCTCG 0.592000 19 127 0 0 0.000229342 0 0 FAT4 79633 broad.mit.edu 37 4 126411726 126411726 + Silent SNP C C T TCGA-D3-A2JL-06A-11D-A196-08 TCGA-D3-A2JL-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 06d6341f-cb6d-4a7e-9213-c7bb394aca56 bf91785e-7b33-4bd0-8ff5-c20c20b4e985 g.chr4:126411726C>T ENST00000394329.3 + 17 13762 c.13749C>T c.(13747-13749)atC>atT p.I4583I FAT4_ENST00000335110.5_Silent_p.I2824I NM_024582.4 NP_078858.4 Q6V0I7 FAT4_HUMAN FAT atypical cadherin 4 4583 homophilic cell adhesion integral to membrane|plasma membrane calcium ion binding NS(6)|autonomic_ganglia(1)|breast(4)|central_nervous_system(3)|cervix(3)|endometrium(27)|haematopoietic_and_lymphoid_tissue(3)|kidney(10)|large_intestine(93)|liver(3)|lung(120)|ovary(9)|pancreas(2)|prostate(21)|skin(31)|stomach(1)|upper_aerodigestive_tract(12)|urinary_tract(6) 355 AACCAGATATCATTGAAAGGG 0.478000 11 64 0 0 3.86212e-05 0 0 UGT2B4 7363 broad.mit.edu 37 4 70350966 70350966 + Missense_Mutation SNP C C T TCGA-D3-A2JL-06A-11D-A196-08 TCGA-D3-A2JL-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 06d6341f-cb6d-4a7e-9213-c7bb394aca56 bf91785e-7b33-4bd0-8ff5-c20c20b4e985 g.chr4:70350966C>T ENST00000305107.6 - 5 1316 c.1270G>A c.(1270-1272)Gac>Aac p.D424N UGT2B4_ENST00000506580.1_Intron|UGT2B4_ENST00000381096.3_Missense_Mutation_p.D288N|UGT2B4_ENST00000512583.1_Intron NM_021139.2 NP_066962.2 P06133 UD2B4_HUMAN UDP glucuronosyltransferase 2 family, polypeptide B4 424 estrogen catabolic process|xenobiotic metabolic process endoplasmic reticulum membrane|integral to membrane|microsome glucuronosyltransferase activity autonomic_ganglia(1)|breast(1)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(29)|prostate(1)|skin(4)|upper_aerodigestive_tract(1) 47 TTGAGTAAGTCTGTACTCGAC 0.413000 8 38 0 0 2.17888e-05 0 0 SEPT9 10801 broad.mit.edu 37 17 75398448 75398448 + Silent SNP C C T TCGA-D3-A2JL-06A-11D-A196-08 TCGA-D3-A2JL-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 06d6341f-cb6d-4a7e-9213-c7bb394aca56 bf91785e-7b33-4bd0-8ff5-c20c20b4e985 g.chr17:75398448C>T ENST00000329047.8 + 2 1142 c.330C>T c.(328-330)tcC>tcT p.S110S SEPT9_ENST00000592420.1_5'UTR|SEPT9_ENST00000588690.1_5'UTR|SEPT9_ENST00000591198.1_Silent_p.S109S|SEPT9_ENST00000449803.2_5'UTR|SEPT9_ENST00000427674.2_5'UTR|SEPT9_ENST00000590294.1_Silent_p.S110S|SEPT9_ENST00000423034.2_Silent_p.S121S|SEPT9_ENST00000431235.2_5'UTR|SEPT9_ENST00000427177.1_Silent_p.S128S NM_006640.4 NP_006631.2 Q9UHD8 SEPT9_HUMAN septin 9 128 cell cycle|cell division|protein heterooligomerization microtubule|perinuclear region of cytoplasm|stress fiber GTP binding|GTPase activity|protein binding autonomic_ganglia(1)|breast(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(2)|ovary(1)|pancreas(1)|prostate(2) 16 BRCA - Breast invasive adenocarcinoma(99;0.153) TCGGCCCGTCCCGGTTCGGGC 0.682000 25 16 0 0 0.000184323 0 0 BCRP7 100133163 broad.mit.edu 37 22 18844763 18844763 + RNA SNP T T C TCGA-D3-A2JL-06A-11D-A196-08 TCGA-D3-A2JL-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 06d6341f-cb6d-4a7e-9213-c7bb394aca56 bf91785e-7b33-4bd0-8ff5-c20c20b4e985 g.chr22:18844763T>C ENST00000412938.1 + 0 3013 TCACAGCCTCTGAGGGCAGCA 0.562000 4 11 0 0 1.23904e-05 0 0 HTR7 3363 broad.mit.edu 37 10 92508946 92508946 + Silent SNP G G A TCGA-D3-A2JL-06A-11D-A196-08 TCGA-D3-A2JL-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 06d6341f-cb6d-4a7e-9213-c7bb394aca56 bf91785e-7b33-4bd0-8ff5-c20c20b4e985 g.chr10:92508946G>A ENST00000371721.3 - 2 1187 c.945C>T c.(943-945)aaC>aaT p.N315N HTR7_ENST00000336152.3_Silent_p.N315N|HTR7_ENST00000371719.2_Silent_p.N315N|HTR7_ENST00000277874.6_Silent_p.N315N P34969 5HT7R_HUMAN 5-hydroxytryptamine (serotonin) receptor 7, adenylate cyclase-coupled 315 blood circulation|circadian rhythm integral to plasma membrane protein binding|serotonin receptor activity NS(1)|endometrium(3)|kidney(2)|large_intestine(9)|lung(11)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 30 Eletriptan(DB00216)|Methysergide(DB00247)|Ziprasidone(DB00246) AGATGGAGATGTTTTTCCTTT 0.527000 5 15 0 0 1.23904e-05 0 0 SPINK14 408187 broad.mit.edu 37 5 147549342 147549342 + Missense_Mutation SNP T T A TCGA-D3-A2JL-06A-11D-A196-08 TCGA-D3-A2JL-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 06d6341f-cb6d-4a7e-9213-c7bb394aca56 bf91785e-7b33-4bd0-8ff5-c20c20b4e985 g.chr5:147549342T>A ENST00000356972.1 + 1 47 c.47T>A c.(46-48)aTa>aAa p.I16K SPINK14_ENST00000562793.1_Missense_Mutation_p.I16K NM_001001325.1 NP_001001325.1 Q6IE38 ISK14_HUMAN serine peptidase inhibitor, Kazal type 14 (putative) 16 extracellular region serine-type endopeptidase inhibitor activity breast(1)|large_intestine(1)|lung(1) 3 TTTATCTTGATACATTTGGTG 0.388000 6 4 0 0 3.59834e-05 0 0 HCN4 10021 broad.mit.edu 37 15 73615110 73615110 + Silent SNP G G A TCGA-D3-A2JL-06A-11D-A196-08 TCGA-D3-A2JL-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 06d6341f-cb6d-4a7e-9213-c7bb394aca56 bf91785e-7b33-4bd0-8ff5-c20c20b4e985 g.chr15:73615110G>A ENST00000261917.3 - 8 4317 c.3324C>T c.(3322-3324)tcC>tcT p.S1108S NM_005477.2 NP_005468.1 Q9Y3Q4 HCN4_HUMAN hyperpolarization activated cyclic nucleotide-gated potassium channel 4 1108 blood circulation|muscle contraction integral to membrane cAMP binding|protein binding|sodium channel activity|voltage-gated potassium channel activity NS(2)|biliary_tract(1)|breast(1)|endometrium(4)|kidney(1)|large_intestine(13)|liver(1)|lung(18)|ovary(6)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1) 55 COAD - Colon adenocarcinoma(1;0.142) ACTCCCCTGAGGAGTGCGGGG 0.736000 3 6 0 0 6.4e-05 0 0 MST1L 11223 broad.mit.edu 37 1 17084327 17084327 + RNA SNP G G A TCGA-D3-A2JL-06A-11D-A196-08 TCGA-D3-A2JL-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 06d6341f-cb6d-4a7e-9213-c7bb394aca56 bf91785e-7b33-4bd0-8ff5-c20c20b4e985 g.chr1:17084327G>A ENST00000455405.2 - 0 481 AGGCAGATCAGGGCCACACGC 0.577000 10 208 0 0 0.00010058 0 0 LOC101929735 101929735 broad.mit.edu 37 14 22935262 22935262 + RNA SNP G G A TCGA-D3-A2JL-06A-11D-A196-08 TCGA-D3-A2JL-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 06d6341f-cb6d-4a7e-9213-c7bb394aca56 bf91785e-7b33-4bd0-8ff5-c20c20b4e985 g.chr14:22935262G>A ENST00000514473.2 - 0 225 AE000661.37_ENST00000556777.1_RNA GAAAGGCACTGCTTTCTGtta 0.378000 20 132 0 0 0.000175454 0 0 DLX2 1746 broad.mit.edu 37 2 172966256 172966256 + Silent SNP C C T TCGA-D3-A2JL-06A-11D-A196-08 TCGA-D3-A2JL-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 06d6341f-cb6d-4a7e-9213-c7bb394aca56 bf91785e-7b33-4bd0-8ff5-c20c20b4e985 g.chr2:172966256C>T ENST00000234198.4 - 2 880 c.519G>A c.(517-519)aaG>aaA p.K173K DLX2_ENST00000466293.2_Silent_p.K173K NM_004405.3 NP_004396.1 Q07687 DLX2_HUMAN distal-less homeobox 2 173 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) AGTATTGAGTCTTTTGGAAAC 0.617000 17 26 0 0 7.07596e-05 0 0 HENMT1 113802 broad.mit.edu 37 1 109191350 109191350 + Silent SNP G G A TCGA-D3-A2JL-06A-11D-A196-08 TCGA-D3-A2JL-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 06d6341f-cb6d-4a7e-9213-c7bb394aca56 bf91785e-7b33-4bd0-8ff5-c20c20b4e985 g.chr1:109191350G>A ENST00000370032.5 - 8 1440 c.1020C>T c.(1018-1020)ttC>ttT p.F340F HENMT1_ENST00000370031.1_Silent_p.F371F|HENMT1_ENST00000402983.1_Silent_p.F340F NM_144584.2 NP_653185.2 Q5T8I9 HENMT_HUMAN HEN1 methyltransferase homolog 1 (Arabidopsis) 340 gene silencing by RNA|piRNA metabolic process P granule metal ion binding|O-methyltransferase activity|RNA binding|RNA methyltransferase activity central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(6)|ovary(2)|prostate(1)|skin(2)|stomach(1) 16 GCAGAGGTACGAAAAATTTAT 0.473000 9 71 0 0 3.86212e-05 0 0 USP29 57663 broad.mit.edu 37 19 57640991 57640991 + Missense_Mutation SNP A A C TCGA-D3-A2JL-06A-11D-A196-08 TCGA-D3-A2JL-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 06d6341f-cb6d-4a7e-9213-c7bb394aca56 bf91785e-7b33-4bd0-8ff5-c20c20b4e985 g.chr19:57640991A>C ENST00000254181.4 + 4 1402 c.948A>C c.(946-948)caA>caC p.Q316H USP29_ENST00000598197.1_Missense_Mutation_p.Q316H NM_020903.2 NP_065954.1 Q9HBJ7 UBP29_HUMAN ubiquitin specific peptidase 29 316 protein modification process|ubiquitin-dependent protein catabolic process cysteine-type peptidase activity|protein binding|ubiquitin thiolesterase activity breast(3)|endometrium(4)|kidney(3)|large_intestine(15)|lung(47)|ovary(2)|pancreas(1)|prostate(2)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1) 85 Colorectal(82;5.46e-05)|all_neural(62;0.0218)|Ovarian(87;0.0822)|Renal(1328;0.157) UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.026) TACTCACTCAAGGTGTCCCAT 0.413000 17 47 0 0 0.000132079 0 0 IPO5 3843 broad.mit.edu 37 13 98652899 98652899 + Splice_Site SNP C C T TCGA-D3-A2JL-06A-11D-A196-08 TCGA-D3-A2JL-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 06d6341f-cb6d-4a7e-9213-c7bb394aca56 bf91785e-7b33-4bd0-8ff5-c20c20b4e985 g.chr13:98652899C>T ENST00000261574.5 + 13 1342 c.1162_splice c.e13+1 p.P388_splice IPO5_ENST00000490680.1_Splice_Site_p.P370_splice|IPO5_ENST00000539640.1_Splice_Site_p.P245_splice NM_002271.4 NP_002262.3 O00410 IPO5_HUMAN importin 5 370 interspecies interaction between organisms|NLS-bearing substrate import into nucleus|ribosomal protein import into nucleus cytoplasm|nuclear pore|nucleolus GTPase inhibitor activity|protein transporter activity|Ran GTPase binding breast(2)|endometrium(2)|large_intestine(8)|lung(8)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2) 27 GCTTCAAAATCGTAAGCTGTG 0.398000 23 90 0 0 5.49717e-05 0 0 MTHFD1 4522 broad.mit.edu 37 14 64906890 64906890 + Missense_Mutation SNP C C T TCGA-D3-A2JL-06A-11D-A196-08 TCGA-D3-A2JL-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 06d6341f-cb6d-4a7e-9213-c7bb394aca56 bf91785e-7b33-4bd0-8ff5-c20c20b4e985 g.chr14:64906890C>T ENST00000555709.1 + 18 2108 c.1721C>T c.(1720-1722)gCt>gTt p.A574V MTHFD1_ENST00000216605.7_Missense_Mutation_p.A630V|MTHFD1_ENST00000555252.1_Missense_Mutation_p.A554V|CTD-2555O16.2_ENST00000556640.1_RNA|MTHFD1_ENST00000545908.1_Missense_Mutation_p.A630V NM_005956.3 NP_005947.3 P11586 C1TC_HUMAN methylenetetrahydrofolate dehydrogenase (NADP+ dependent) 1, methenyltetrahydrofolate cyclohydrolase, formyltetrahydrofolate synthetase 574 Formyltetrahydrofolate synthetase. folic acid metabolic process|folic acid-containing compound biosynthetic process|histidine biosynthetic process|methionine biosynthetic process|one-carbon metabolic process|purine nucleotide biosynthetic process cytosol|mitochondrion ATP binding|formate-tetrahydrofolate ligase activity|methenyltetrahydrofolate cyclohydrolase activity|methylenetetrahydrofolate dehydrogenase|methylenetetrahydrofolate dehydrogenase (NADP+) activity|protein binding endometrium(3)|kidney(2)|large_intestine(8)|lung(10)|ovary(2)|pancreas(1)|prostate(2)|skin(2) 30 OV - Ovarian serous cystadenocarcinoma(108;8.7e-12)|all cancers(60;3.29e-11)|BRCA - Breast invasive adenocarcinoma(234;0.0488) NADH(DB00157)|Tetrahydrofolic acid(DB00116) GCTGTCCTGGCTCTCACCACT 0.493000 38 73 0 0 0.000319135 0 0 ARMC6 93436 broad.mit.edu 37 19 19162882 19162882 + Nonsense_Mutation SNP G G A TCGA-D3-A2JL-06A-11D-A196-08 TCGA-D3-A2JL-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 06d6341f-cb6d-4a7e-9213-c7bb394aca56 bf91785e-7b33-4bd0-8ff5-c20c20b4e985 g.chr19:19162882G>A ENST00000535612.1 + 5 1163 c.731G>A c.(730-732)tGg>tAg p.W244* ARMC6_ENST00000546344.1_Nonsense_Mutation_p.W151*|ARMC6_ENST00000392335.2_Nonsense_Mutation_p.W219*|ARMC6_ENST00000392336.3_Nonsense_Mutation_p.W244*|ARMC6_ENST00000269932.6_Nonsense_Mutation_p.W219* NM_001199196.1 NP_001186125.1 Q6NXE6 ARMC6_HUMAN armadillo repeat containing 6 244 protein binding NS(1)|endometrium(2)|kidney(1)|large_intestine(1)|liver(2)|lung(5)|ovary(1)|prostate(1) 14 OV - Ovarian serous cystadenocarcinoma(5;5.66e-06)|Epithelial(12;0.000391) GAAGCCTGCTGGGCCCTGCGT 0.577000 5 36 0 0 1.23904e-05 0 0 NCAN 1463 broad.mit.edu 37 19 19339082 19339082 + Missense_Mutation SNP C C T TCGA-D3-A2JL-06A-11D-A196-08 TCGA-D3-A2JL-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 06d6341f-cb6d-4a7e-9213-c7bb394aca56 bf91785e-7b33-4bd0-8ff5-c20c20b4e985 g.chr19:19339082C>T ENST00000252575.5 + 8 2696 c.2653C>T c.(2653-2655)Cca>Tca p.P885S NCAN_ENST00000538881.1_Missense_Mutation_p.P336S NM_004386.2 NP_004377.2 O14594 NCAN_HUMAN neurocan 885 axon guidance|cell adhesion extracellular region calcium ion binding|hyaluronic acid binding|sugar binding breast(1)|cervix(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|lung(32)|ovary(5)|pancreas(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(1) 64 Epithelial(12;0.00544) GGTTGGAGTTCCAGCCATGTC 0.602000 14 57 0 0 0.000219431 0 0 KIF27 55582 broad.mit.edu 37 9 86451956 86451956 + Missense_Mutation SNP G G A TCGA-D3-A2JL-06A-11D-A196-08 TCGA-D3-A2JL-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 06d6341f-cb6d-4a7e-9213-c7bb394aca56 bf91785e-7b33-4bd0-8ff5-c20c20b4e985 g.chr9:86451956G>A ENST00000297814.2 - 18 4309 c.4166C>T c.(4165-4167)tCc>tTc p.S1389F KIF27_ENST00000413982.1_Missense_Mutation_p.S1323F|RP11-575L7.2_ENST00000458016.1_RNA|KIF27_ENST00000334204.2_Missense_Mutation_p.S1292F|RP11-575L7.2_ENST00000439378.3_RNA|RP11-575L7.2_ENST00000417672.1_RNA|RP11-575L7.4_ENST00000591217.1_RNA NM_017576.1 NP_060046.1 Q86VH2 KIF27_HUMAN kinesin family member 27 1389 cilium assembly|microtubule-based movement cilium|cytoplasm|microtubule ATP binding|microtubule motor activity breast(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(7)|lung(17)|prostate(2)|skin(3)|stomach(1)|urinary_tract(1) 43 TACTTCGATGGAATCAGCAGC 0.363000 25 29 0 0 7.16444e-05 0 0 PLEC 5339 broad.mit.edu 37 8 144995804 144995804 + Silent SNP G G A TCGA-D3-A2JL-06A-11D-A196-08 TCGA-D3-A2JL-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 06d6341f-cb6d-4a7e-9213-c7bb394aca56 bf91785e-7b33-4bd0-8ff5-c20c20b4e985 g.chr8:144995804G>A ENST00000322810.4 - 32 8765 c.8596C>T c.(8596-8598)Ctg>Ttg p.L2866L PLEC_ENST00000356346.3_Silent_p.L2715L|PLEC_ENST00000357649.2_Silent_p.L2733L|PLEC_ENST00000398774.2_Silent_p.L2697L|PLEC_ENST00000436759.2_Silent_p.L2756L|PLEC_ENST00000354958.2_Silent_p.L2707L|PLEC_ENST00000345136.3_Silent_p.L2729L|PLEC_ENST00000527096.1_Silent_p.L2752L|PLEC_ENST00000354589.3_Silent_p.L2729L NM_201380.2 NP_958782.1 Q15149 PLEC_HUMAN plectin 2866 Globular 2. cellular component disassembly involved in apoptosis|hemidesmosome assembly cytosol|focal adhesion|hemidesmosome|intermediate filament cytoskeleton|sarcolemma actin binding|structural constituent of muscle NS(1)|breast(3)|central_nervous_system(4)|cervix(7)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(8)|lung(57)|ovary(4)|pancreas(2)|prostate(11)|skin(9)|stomach(2)|upper_aerodigestive_tract(10) 137 GCCTCCAGCAGGATGAGGGCC 0.662000 14 38 0 0 0.000308642 0 0 SNTG2 54221 broad.mit.edu 37 2 1079206 1079206 + Silent SNP G G A TCGA-D3-A2JL-06A-11D-A196-08 TCGA-D3-A2JL-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 06d6341f-cb6d-4a7e-9213-c7bb394aca56 bf91785e-7b33-4bd0-8ff5-c20c20b4e985 g.chr2:1079206G>A ENST00000308624.5 + 2 204 c.75G>A c.(73-75)acG>acA p.T25T SNTG2_ENST00000407292.1_Silent_p.T25T NM_018968.3 NP_061841.2 Q9NY99 SNTG2_HUMAN syntrophin, gamma 2 25 central nervous system development cytoplasm|cytoskeleton|sarcolemma|syntrophin complex actin binding|PDZ domain binding p.T25T(1) breast(1)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(9)|lung(20)|ovary(1)|pancreas(1)|prostate(2)|skin(2)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1) 52 Acute lymphoblastic leukemia(172;0.0627)|all_hematologic(175;0.0797) all_cancers(51;0.00469) all cancers(51;0.0178)|OV - Ovarian serous cystadenocarcinoma(76;0.07)|Epithelial(75;0.0864)|GBM - Glioblastoma multiforme(21;0.173) CCCTACAGACGAAAACCACTA 0.478000 12 117 0 0 0.000308642 0 0 FLT1 2321 broad.mit.edu 37 13 29041220 29041220 + Missense_Mutation SNP C C T TCGA-D3-A2JL-06A-11D-A196-08 TCGA-D3-A2JL-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 06d6341f-cb6d-4a7e-9213-c7bb394aca56 bf91785e-7b33-4bd0-8ff5-c20c20b4e985 g.chr13:29041220C>T ENST00000282397.4 - 3 459 c.208G>A c.(208-210)Gaa>Aaa p.E70K FLT1_ENST00000539099.1_Missense_Mutation_p.E70K|FLT1_ENST00000541932.1_Missense_Mutation_p.E70K NM_002019.4 NP_002010.2 P17948 VGFR1_HUMAN fms-related tyrosine kinase 1 70 Ig-like C2-type 1. cell differentiation|female pregnancy|positive regulation of vascular endothelial growth factor receptor signaling pathway extracellular space|Golgi apparatus|integral to plasma membrane|nucleus ATP binding|growth factor binding|vascular endothelial growth factor receptor activity NS(1)|breast(2)|central_nervous_system(5)|endometrium(8)|kidney(3)|large_intestine(20)|lung(55)|ovary(3)|prostate(1)|skin(12)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(2) 115 Acute lymphoblastic leukemia(6;0.04) Lung SC(185;0.0262)|Breast(139;0.188) Colorectal(13;0.000674) all cancers(112;0.0301)|Epithelial(112;0.155)|GBM - Glioblastoma multiforme(144;0.184)|OV - Ovarian serous cystadenocarcinoma(117;0.205)|Lung(94;0.207) Sunitinib(DB01268) CTTTCGCTTTCCTTACTCACC 0.448000 18 42 0 0 0.000175454 0 0 RGS7 6000 broad.mit.edu 37 1 241262011 241262011 + Missense_Mutation SNP G G A TCGA-D3-A2JL-06A-11D-A196-08 TCGA-D3-A2JL-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 06d6341f-cb6d-4a7e-9213-c7bb394aca56 bf91785e-7b33-4bd0-8ff5-c20c20b4e985 g.chr1:241262011G>A ENST00000366565.1 - 3 511 c.130C>T c.(130-132)Cgt>Tgt p.R44C RGS7_ENST00000348120.2_Missense_Mutation_p.R44C|RGS7_ENST00000446183.2_5'UTR|RGS7_ENST00000331110.7_Missense_Mutation_p.R18C|RGS7_ENST00000366563.1_Missense_Mutation_p.R44C|RGS7_ENST00000366564.1_Missense_Mutation_p.R44C|RGS7_ENST00000366562.4_Missense_Mutation_p.R44C|RGS7_ENST00000401882.1_Missense_Mutation_p.R44C|RGS7_ENST00000407727.1_Missense_Mutation_p.R44C NM_002924.4 NP_002915.3 P49802 RGS7_HUMAN regulator of G-protein signaling 7 44 DEP. G-protein coupled receptor protein signaling pathway|intracellular signal transduction|negative regulation of signal transduction|regulation of G-protein coupled receptor protein signaling pathway cytoplasm|heterotrimeric G-protein complex GTPase activator activity|protein binding|signal transducer activity p.R44S(2) breast(1)|endometrium(2)|kidney(4)|large_intestine(6)|lung(51)|ovary(4)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 76 all_cancers(173;0.0131) OV - Ovarian serous cystadenocarcinoma(106;0.027) TTGACCGTACGAATAGGAATT 0.358000 10 49 0 0 6.40141e-05 0 0 PCDH17 27253 broad.mit.edu 37 13 58208094 58208094 + Missense_Mutation SNP T T C TCGA-D3-A2JL-06A-11D-A196-08 TCGA-D3-A2JL-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 06d6341f-cb6d-4a7e-9213-c7bb394aca56 bf91785e-7b33-4bd0-8ff5-c20c20b4e985 g.chr13:58208094T>C ENST00000377918.3 + 1 1440 c.1414T>C c.(1414-1416)Ttc>Ctc p.F472L NM_001040429.2 NP_001035519.1 O14917 PCD17_HUMAN protocadherin 17 472 Cadherin 4. 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) CCCGCCTCGGTTCACCAAAGG 0.617000 5 29 0 0 1.23904e-05 0 0 SLC6A20 54716 broad.mit.edu 37 3 45817435 45817435 + Missense_Mutation SNP C C T TCGA-D3-A2JL-06A-11D-A196-08 TCGA-D3-A2JL-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 06d6341f-cb6d-4a7e-9213-c7bb394aca56 bf91785e-7b33-4bd0-8ff5-c20c20b4e985 g.chr3:45817435C>T ENST00000358525.4 - 4 515 c.400G>A c.(400-402)Ggc>Agc p.G134S SLC6A20_ENST00000456124.2_Missense_Mutation_p.G134S|SLC6A20_ENST00000353278.4_Missense_Mutation_p.G134S NM_020208.3 NP_064593.1 Q9NP91 S6A20_HUMAN solute carrier family 6 (proline IMINO transporter), member 20 134 cellular nitrogen compound metabolic process|glycine transport|proline transport apical plasma membrane|integral to plasma membrane amino acid transmembrane transporter activity|neurotransmitter:sodium symporter activity breast(1)|endometrium(1)|large_intestine(6)|ovary(2)|skin(2)|urinary_tract(1) 13 BRCA - Breast invasive adenocarcinoma(193;0.01)|KIRC - Kidney renal clear cell carcinoma(197;0.0225)|Kidney(197;0.0267) TCATCGTAGCCCGTGTGGTTA 0.567000 23 72 0 0 0.000184323 0 0 TTF2 8458 broad.mit.edu 37 1 117618345 117618345 + Missense_Mutation SNP C C G TCGA-D3-A2JL-06A-11D-A196-08 TCGA-D3-A2JL-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 06d6341f-cb6d-4a7e-9213-c7bb394aca56 bf91785e-7b33-4bd0-8ff5-c20c20b4e985 g.chr1:117618345C>G ENST00000369466.3 + 5 1183 c.1139C>G c.(1138-1140)aCg>aGg p.T380R NM_003594.3 NP_003585.3 Q9UNY4 TTF2_HUMAN transcription termination factor, RNA polymerase II 380 mRNA processing|regulation of transcription, DNA-dependent|RNA splicing|termination of RNA polymerase II transcription cytoplasm|spliceosomal complex|transcription elongation factor complex ATP binding|ATP-dependent helicase activity|DNA binding|DNA-dependent ATPase activity|protein binding|zinc ion binding NS(1)|autonomic_ganglia(1)|breast(1)|cervix(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|liver(1)|lung(24)|ovary(1)|prostate(2)|skin(2)|urinary_tract(2) 50 Lung SC(450;0.225) all_cancers(81;4.23e-06)|all_epithelial(167;3.65e-07)|all_lung(203;2.81e-06)|Lung NSC(69;1.98e-05) Lung(183;0.0553)|Colorectal(144;0.179)|LUSC - Lung squamous cell carcinoma(189;0.19) GACTTAGAGACGAAGGAAAAC 0.517000 7 37 0 0 8.12818e-05 0 0 KDR 3791 broad.mit.edu 37 4 55976861 55976861 + Missense_Mutation SNP G G A TCGA-D3-A2JL-06A-11D-A196-08 TCGA-D3-A2JL-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 06d6341f-cb6d-4a7e-9213-c7bb394aca56 bf91785e-7b33-4bd0-8ff5-c20c20b4e985 g.chr4:55976861G>A ENST00000263923.4 - 8 1346 c.1051C>T c.(1051-1053)Cct>Tct p.P351S NM_002253.2 NP_002244.1 P35968 VGFR2_HUMAN kinase insert domain receptor (a type III receptor tyrosine kinase) 351 Ig-like C2-type 4. angiogenesis|cell differentiation|interspecies interaction between organisms|positive regulation of endothelial cell migration|positive regulation of endothelial cell proliferation|positive regulation of focal adhesion assembly|positive regulation of positive chemotaxis|regulation of cell shape integral to plasma membrane ATP binding|growth factor binding|Hsp90 protein binding|integrin binding|receptor signaling protein tyrosine kinase activity|vascular endothelial growth factor receptor activity NS(1)|breast(3)|central_nervous_system(4)|endometrium(2)|haematopoietic_and_lymphoid_tissue(6)|kidney(8)|large_intestine(16)|lung(71)|ovary(2)|prostate(2)|skin(10)|soft_tissue(4)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(2) 135 all_cancers(7;0.0255)|all_lung(4;0.00175)|Lung NSC(11;0.00384)|all_epithelial(27;0.034)|Glioma(25;0.08)|all_neural(26;0.101) Epithelial(7;0.189) Sorafenib(DB00398)|Sunitinib(DB01268) TACTTCGCAGGGATTCTGACA 0.413000 Mis """NSCLC, angiosarcoma""" TSP Lung(20;0.16) 10 29 0 0 6.40141e-05 0 0 PPP1R16B 26051 broad.mit.edu 37 20 37547165 37547165 + Silent SNP G G A TCGA-D3-A2JL-06A-11D-A196-08 TCGA-D3-A2JL-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 06d6341f-cb6d-4a7e-9213-c7bb394aca56 bf91785e-7b33-4bd0-8ff5-c20c20b4e985 g.chr20:37547165G>A ENST00000299824.1 + 11 1749 c.1560G>A c.(1558-1560)ttG>ttA p.L520L PPP1R16B_ENST00000373331.2_Silent_p.L478L NM_015568.2 NP_056383.1 Q96T49 PP16B_HUMAN protein phosphatase 1, regulatory subunit 16B 520 regulation of filopodium assembly|signal transduction nucleus|plasma membrane protein phosphatase binding biliary_tract(1)|endometrium(4)|kidney(3)|large_intestine(10)|lung(23)|prostate(2)|skin(4)|upper_aerodigestive_tract(2) 49 Myeloproliferative disorder(115;0.00878) AGGCCCCCTTGATCGGAGGCA 0.597000 13 41 0 0 0.000219431 0 0 GRIA2 2891 broad.mit.edu 37 4 158242727 158242727 + Silent SNP T T A TCGA-D3-A2JL-06A-11D-A196-08 TCGA-D3-A2JL-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 06d6341f-cb6d-4a7e-9213-c7bb394aca56 bf91785e-7b33-4bd0-8ff5-c20c20b4e985 g.chr4:158242727T>A ENST00000296526.7 + 6 1183 c.858T>A c.(856-858)ccT>ccA p.P286P GRIA2_ENST00000507898.1_Silent_p.P239P|GRIA2_ENST00000264426.9_Silent_p.P286P|GRIA2_ENST00000449365.1_Silent_p.P239P|GRIA2_ENST00000393815.2_Silent_p.P239P NM_000826.3 NP_000817.2 P42262 GRIA2_HUMAN glutamate receptor, ionotropic, AMPA 2 286 synaptic transmission alpha-amino-3-hydroxy-5-methyl-4-isoxazolepropionic acid selective glutamate receptor complex|cell junction|endocytic vesicle membrane|endoplasmic reticulum membrane|postsynaptic membrane alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity|extracellular-glutamate-gated ion channel activity|kainate selective glutamate receptor activity NS(1)|breast(2)|central_nervous_system(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(16)|liver(2)|lung(32)|ovary(3)|prostate(3)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(1) 79 all_hematologic(180;0.24) Renal(120;0.0458) COAD - Colon adenocarcinoma(41;0.0294) L-Glutamic Acid(DB00142) AAGAATACCCTGGAGCTCACA 0.378000 18 36 0 0 9.7654e-05 0 0 NLGN3 54413 broad.mit.edu 37 X 70389544 70389544 + Missense_Mutation SNP G G A TCGA-D3-A2JL-06A-11D-A196-08 TCGA-D3-A2JL-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 06d6341f-cb6d-4a7e-9213-c7bb394aca56 bf91785e-7b33-4bd0-8ff5-c20c20b4e985 g.chrX:70389544G>A ENST00000374051.3 + 7 2406 c.2084G>A c.(2083-2085)gGg>gAg p.G695E NLGN3_ENST00000536169.1_Missense_Mutation_p.G675E|NLGN3_ENST00000476589.1_3'UTR|NLGN3_ENST00000358741.3_Missense_Mutation_p.G715E NM_018977.3 NP_061850.2 Q9NZ94 NLGN3_HUMAN neuroligin 3 715 neuron cell-cell adhesion|positive regulation of synaptogenesis|receptor-mediated endocytosis|social behavior|synapse assembly cell surface|endocytic vesicle|integral to plasma membrane|synapse neurexin binding|receptor activity biliary_tract(1)|breast(1)|central_nervous_system(2)|endometrium(4)|large_intestine(10)|lung(14)|ovary(2)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1) 37 Renal(35;0.156) ATCGCCGTGGGGGCCTCCCTC 0.627000 7 33 0 0 0.000274275 0 0 AMFR 267 broad.mit.edu 37 16 56436943 56436943 + Missense_Mutation SNP G G A TCGA-D3-A2JL-06A-11D-A196-08 TCGA-D3-A2JL-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 06d6341f-cb6d-4a7e-9213-c7bb394aca56 bf91785e-7b33-4bd0-8ff5-c20c20b4e985 g.chr16:56436943G>A ENST00000290649.5 - 7 1138 c.928C>T c.(928-930)Cgt>Tgt p.R310C NM_001144.5 NP_001135.3 Q9UKV5 AMFR2_HUMAN autocrine motility factor receptor, E3 ubiquitin protein ligase 310 endoplasmic reticulum unfolded protein response|ER-associated protein catabolic process|protein oligomerization|protein polyubiquitination integral to endoplasmic reticulum membrane|integral to membrane of membrane fraction protein binding|receptor activity|ubiquitin-protein ligase activity|zinc ion binding p.R310C(1) NS(1)|breast(2)|endometrium(1)|kidney(1)|large_intestine(4)|lung(6)|skin(1)|upper_aerodigestive_tract(1) 17 TTGTGCCGACGAATTCGACGT 0.428000 41 67 0 0 8.96297e-05 0 0 C2orf16 84226 broad.mit.edu 37 2 27804235 27804235 + Missense_Mutation SNP C C T TCGA-D3-A2JL-06A-11D-A196-08 TCGA-D3-A2JL-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 06d6341f-cb6d-4a7e-9213-c7bb394aca56 bf91785e-7b33-4bd0-8ff5-c20c20b4e985 g.chr2:27804235C>T ENST00000408964.2 + 1 4847 c.4796C>T c.(4795-4797)tCc>tTc p.S1599F NM_032266.3 NP_115642.3 Q68DN1 CB016_HUMAN chromosome 2 open reading frame 16 1599 27 X 8 AA approximative tandem repeat of P-S-E-R-S-H-H-S.|Arg-rich. breast(1)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(33)|urinary_tract(1) 47 Acute lymphoblastic leukemia(172;0.155) AAAAACCATTCCAGTCCTTCT 0.552000 8 64 0 0 2.17888e-05 0 0 DCAF4 26094 broad.mit.edu 37 14 73404717 73404717 + Nonsense_Mutation SNP C C T TCGA-D3-A2JL-06A-11D-A196-08 TCGA-D3-A2JL-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 06d6341f-cb6d-4a7e-9213-c7bb394aca56 bf91785e-7b33-4bd0-8ff5-c20c20b4e985 g.chr14:73404717C>T ENST00000555042.1 + 2 96 c.31C>T c.(31-33)Cga>Tga p.R11* DCAF4_ENST00000510612.1_3'UTR|DCAF4_ENST00000553457.1_5'UTR|DCAF4_ENST00000509153.1_Nonsense_Mutation_p.R11*|DCAF4_ENST00000394234.2_Intron|DCAF4_ENST00000358377.2_Nonsense_Mutation_p.R11*|DCAF4_ENST00000353777.3_Nonsense_Mutation_p.R11* NM_001163508.1 NP_001156980.1 Q8WV16 DCAF4_HUMAN DDB1 and CUL4 associated factor 4 11 CUL4 RING ubiquitin ligase complex NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(5)|lung(6)|ovary(1)|skin(1) 22 GAGTAGAAGACGACATGGGAG 0.473000 57 120 0 0 0.000147903 0 0 KRT84 3890 broad.mit.edu 37 12 52775207 52775207 + Missense_Mutation SNP C C T TCGA-D3-A2JL-06A-11D-A196-08 TCGA-D3-A2JL-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 06d6341f-cb6d-4a7e-9213-c7bb394aca56 bf91785e-7b33-4bd0-8ff5-c20c20b4e985 g.chr12:52775207C>T ENST00000257951.3 - 5 1081 c.1015G>A c.(1015-1017)Gcc>Acc p.A339T RP3-416H24.4_ENST00000547174.1_RNA NM_033045.3 NP_149034.2 Q9NSB2 KRT84_HUMAN keratin 84 339 Coil 2.|Rod. keratin filament structural constituent of epidermis breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|liver(1)|lung(10)|skin(3) 27 all_hematologic(5;0.12) BRCA - Breast invasive adenocarcinoma(357;0.189) TCATACTGGGCCTTGACCTCA 0.587000 31 156 0 0 0.000339439 0 0 FGD3 89846 broad.mit.edu 37 9 95797848 95797848 + Missense_Mutation SNP C C T TCGA-D3-A2JL-06A-11D-A196-08 TCGA-D3-A2JL-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 06d6341f-cb6d-4a7e-9213-c7bb394aca56 bf91785e-7b33-4bd0-8ff5-c20c20b4e985 g.chr9:95797848C>T ENST00000375482.3 + 18 2651 c.2155C>T c.(2155-2157)Cct>Tct p.P719S FGD3_ENST00000337352.6_Missense_Mutation_p.P719S|FGD3_ENST00000416701.2_Missense_Mutation_p.P718S|FGD3_ENST00000538555.1_Missense_Mutation_p.P322S NM_001083536.1 NP_001077005.1 Q5JSP0 FGD3_HUMAN FYVE, RhoGEF and PH domain containing 3 719 actin cytoskeleton organization|apoptosis|filopodium assembly|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Cdc42 GTPase activity|regulation of cell shape|small GTPase mediated signal transduction cytoskeleton|cytosol|Golgi apparatus|lamellipodium|ruffle metal ion binding|Rho guanyl-nucleotide exchange factor activity|small GTPase binding breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(4)|ovary(2)|prostate(1)|urinary_tract(1) 17 GCTTCAGGTCCCTATGGGCGC 0.657000 13 22 0 0 7.07596e-05 0 0 C1GALT1C1 29071 broad.mit.edu 37 X 119760874 119760874 + Missense_Mutation SNP C C T TCGA-D3-A2JL-06A-11D-A196-08 TCGA-D3-A2JL-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 06d6341f-cb6d-4a7e-9213-c7bb394aca56 bf91785e-7b33-4bd0-8ff5-c20c20b4e985 g.chrX:119760874C>T ENST00000304661.5 - 2 386 c.148G>A c.(148-150)Gaa>Aaa p.E50K C1GALT1C1_ENST00000371313.2_Missense_Mutation_p.E50K NM_001011551.2 NP_001011551.1 Q96EU7 C1GLC_HUMAN C1GALT1-specific chaperone 1 50 integral to membrane breast(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(4)|skin(1) 11 AAGATATCTTCTTTGTTAGGA 0.398000 26 160 0 0 0.000117367 0 0 TNXB 7148 broad.mit.edu 37 6 32046849 32046849 + Missense_Mutation SNP C C T TCGA-D3-A2JL-06A-11D-A196-08 TCGA-D3-A2JL-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 06d6341f-cb6d-4a7e-9213-c7bb394aca56 bf91785e-7b33-4bd0-8ff5-c20c20b4e985 g.chr6:32046849C>T ENST00000375244.3 - 11 4537 c.4336G>A c.(4336-4338)Ggg>Agg p.G1446R TNXB_ENST00000375247.2_Missense_Mutation_p.G1446R P22105 TENX_HUMAN tenascin XB 1533 actin cytoskeleton organization|cell adhesion|collagen metabolic process|elastic fiber assembly|signal transduction extracellular space|intracellular|proteinaceous extracellular matrix heparin binding|integrin binding endometrium(1)|kidney(1)|large_intestine(1)|lung(4)|prostate(1) 8 ACGCGCTGCCCCTCGTGGAGG 0.692000 16 99 0 0 5.01169e-05 0 0 SRSF4 6429 broad.mit.edu 37 1 29475298 29475309 + In_Frame_Del DEL CTGCGACTGCGA CTGCGACTGCGA - rs146585589 byFrequency TCGA-D3-A2JL-06A-11D-A196-08 TCGA-D3-A2JL-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 06d6341f-cb6d-4a7e-9213-c7bb394aca56 bf91785e-7b33-4bd0-8ff5-c20c20b4e985 g.chr1:29475298_29475309delCTGCGACTGCGA ENST00000373795.4 - 6 1332_1343 c.1098_1109delTCGCAGTCGCAG c.(1096-1110)agc>ag p.SRSRS366del SRSF4_ENST00000546138.1_3'UTR|SRSF4_ENST00000466448.1_5'UTR NM_005626.4 NP_005617.2 Q08170 SRSF4_HUMAN serine/arginine-rich splicing factor 4 366 Arg/Ser-rich (RS domain). mRNA 3'-end processing|mRNA export from nucleus|nuclear mRNA splicing, via spliceosome|termination of RNA polymerase II transcription nuclear speck nucleotide binding|RNA binding breast(2)|central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(8)|liver(1)|lung(8)|ovary(1)|prostate(1) 27 cttgctgcggctgcgactgcgactgcggctct 0.618 8 22 --- --- --- --- APOA1BP 128240 broad.mit.edu 37 1 156562376 156562376 + Frame_Shift_Del DEL A A - TCGA-D3-A2JL-06A-11D-A196-08 TCGA-D3-A2JL-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 06d6341f-cb6d-4a7e-9213-c7bb394aca56 bf91785e-7b33-4bd0-8ff5-c20c20b4e985 g.chr1:156562376delA ENST00000368235.3 + 4 473 c.430delA c.(430-432)aafs p.K144fs APOA1BP_ENST00000368234.3_Frame_Shift_Del_p.K144fs|APOA1BP_ENST00000467374.1_3'UTR|APOA1BP_ENST00000368233.3_Frame_Shift_Del_p.K144fs NM_144772.2 NP_658985.2 Q8NCW5 AIBP_HUMAN apolipoprotein A-I binding protein 144 YjeF N-terminal. extracellular region protein binding central_nervous_system(1)|large_intestine(2)|lung(3)|prostate(2)|urinary_tract(1) 9 all_hematologic(923;0.088)|Hepatocellular(266;0.158) CTATTACCCCAAAAGGCCTAA 0.567 7 368 --- --- --- --- NCOA1 8648 broad.mit.edu 37 2 24985616 24985618 + In_Frame_Del DEL CTT CTT - TCGA-D3-A2JL-06A-11D-A196-08 TCGA-D3-A2JL-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 06d6341f-cb6d-4a7e-9213-c7bb394aca56 bf91785e-7b33-4bd0-8ff5-c20c20b4e985 g.chr2:24985616_24985618delCTT ENST00000405141.1 + 23 4837_4839 c.4126_4128delCTT c.(4126-4128)del p.L1377del NCOA1_ENST00000407230.1_In_Frame_Del_p.L1226del|NCOA1_ENST00000406961.1_In_Frame_Del_p.L1377del|NCOA1_ENST00000395856.3_In_Frame_Del_p.L1377del|NCOA1_ENST00000538539.1_In_Frame_Del_p.L1377del|NCOA1_ENST00000348332.3_In_Frame_Del_p.L1377del|NCOA1_ENST00000288599.5_In_Frame_Del_p.L1377del Q15788 NCOA1_HUMAN nuclear receptor coactivator 1 1377 PAX3/NCOA1(8) breast(3)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(13)|lung(26)|ovary(2)|prostate(1)|skin(1)|urinary_tract(1) 53 Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215) ATCCACTGACCTTCTCAAAACAG 0.424 T PAX3 alveolar rhadomyosarcoma 91 268 --- --- --- --- ZXDC 79364 broad.mit.edu 37 3 126178522 126178522 + Frame_Shift_Del DEL T T - TCGA-D3-A2JL-06A-11D-A196-08 TCGA-D3-A2JL-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 06d6341f-cb6d-4a7e-9213-c7bb394aca56 bf91785e-7b33-4bd0-8ff5-c20c20b4e985 g.chr3:126178522delT ENST00000389709.3 - 7 2239 c.2186delA c.(2185-2187)agfs p.K729fs NM_025112.4 NP_079388.3 Q2QGD7 ZXDC_HUMAN ZXD family zinc finger C 729 positive regulation of transcription, DNA-dependent nucleus C2H2 zinc finger domain binding|identical protein binding|LRR domain binding|nucleic acid binding|sequence-specific DNA binding transcription factor activity|zinc ion binding endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(9)|ovary(1) 17 GBM - Glioblastoma multiforme(114;0.155) TCCTCTCTGCTTTTTTTCCTT 0.522 7 785 --- --- --- --- ARHGAP10 79658 broad.mit.edu 37 4 148827861 148827861 + Frame_Shift_Del DEL A A - TCGA-D3-A2JL-06A-11D-A196-08 TCGA-D3-A2JL-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 06d6341f-cb6d-4a7e-9213-c7bb394aca56 bf91785e-7b33-4bd0-8ff5-c20c20b4e985 g.chr4:148827861delA ENST00000336498.3 + 11 1346 c.1107delA c.(1105-1107)ggfs p.G369fs ARHGAP10_ENST00000414545.2_Frame_Shift_Del_p.G18fs NM_024605.3 NP_078881.3 A1A4S6 RHG10_HUMAN Rho GTPase activating protein 10 369 PH. apoptosis|filopodium assembly|regulation of apoptosis|small GTPase mediated signal transduction cytosol|perinuclear region of cytoplasm|plasma membrane cytoskeletal adaptor activity|SH3 domain binding autonomic_ganglia(2)|endometrium(5)|kidney(2)|large_intestine(4)|liver(2)|lung(13)|ovary(1)|pancreas(1)|prostate(1)|skin(2) 33 all_hematologic(180;0.151) Renal(17;0.0166) GBM - Glioblastoma multiforme(119;0.0423) CTCTGGGTGGAAAGGAAGCTG 0.393 13 65 --- --- --- --- C8orf86 389649 broad.mit.edu 37 8 38385986 38385987 + Frame_Shift_Ins INS - - CC TCGA-D3-A2JL-06A-11D-A196-08 TCGA-D3-A2JL-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 06d6341f-cb6d-4a7e-9213-c7bb394aca56 bf91785e-7b33-4bd0-8ff5-c20c20b4e985 g.chr8:38385986_38385987insCC ENST00000358138.1 - 1 193_194 c.169_170insGG c.(169-171)tgafs p.*57fs C8orf86_ENST00000437935.2_Frame_Shift_Ins_p.*57fs NM_207412.1 NP_997295.1 Q6ZUL3 CH086_HUMAN chromosome 8 open reading frame 86 57 breast(1)|endometrium(1)|large_intestine(1)|lung(1)|prostate(1) 5 TCGCTGCTCAACCCTTTCCTTC 0.550 15 46 --- --- --- --- TEP1 7011 broad.mit.edu 37 14 20852647 20852647 + Frame_Shift_Del DEL C C - TCGA-D3-A2JL-06A-11D-A196-08 TCGA-D3-A2JL-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 06d6341f-cb6d-4a7e-9213-c7bb394aca56 bf91785e-7b33-4bd0-8ff5-c20c20b4e985 g.chr14:20852647delC ENST00000262715.5 - 23 3282 c.3242delG c.(3241-3243)gtfs p.G1081fs TEP1_ENST00000556935.1_Frame_Shift_Del_p.G973fs NM_007110.4 NP_009041.2 Q99973 TEP1_HUMAN telomerase-associated protein 1 1081 telomere maintenance via recombination chromosome, telomeric region|cytoplasm|nuclear matrix|soluble fraction|telomerase holoenzyme complex ATP binding|RNA binding p.V1082fs*47(1) NS(4)|breast(1)|central_nervous_system(4)|endometrium(10)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(9)|lung(48)|ovary(7)|pancreas(1)|prostate(2)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1) 96 all_cancers(95;0.00123) all_lung(585;0.235) Epithelial(56;7.42e-08)|all cancers(55;6.46e-07) GBM - Glioblastoma multiforme(265;0.028)|READ - Rectum adenocarcinoma(17;0.233) AGCTGCCACACCCCCCCACTC 0.587 7 401 --- --- --- --- CTAGE5 4253 broad.mit.edu 37 14 39746242 39746243 + Frame_Shift_Ins INS - - T rs75842899 byFrequency TCGA-D3-A2JL-06A-11D-A196-08 TCGA-D3-A2JL-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 06d6341f-cb6d-4a7e-9213-c7bb394aca56 bf91785e-7b33-4bd0-8ff5-c20c20b4e985 g.chr14:39746242_39746243insT ENST00000553728.1 + 6 1986_1987 c.1773_1774insT c.(1771-1776)ctttttfs p.LF591fs CTAGE5_ENST00000396165.4_Frame_Shift_Ins_p.LF27fs|CTAGE5_ENST00000280083.3_Frame_Shift_Ins_p.LF56fs|CTAGE5_ENST00000556148.1_Intron|CTAGE5_ENST00000553352.1_Frame_Shift_Ins_p.LF27fs|CTAGE5_ENST00000341502.5_Frame_Shift_Ins_p.LF56fs|CTAGE5_ENST00000396158.2_Frame_Shift_Ins_p.LF56fs|CTAGE5_ENST00000557038.1_5'UTR|RP11-407N17.3_ENST00000603904.1_Frame_Shift_Ins_p.LF27fs|CTAGE5_ENST00000341749.3_Frame_Shift_Ins_p.LF44fs|CTAGE5_ENST00000348007.3_Frame_Shift_Ins_p.LF56fs TTGCTGTTCTCTTTTTTTTGTG 0.371 8 144 --- --- --- --- MESP2 145873 broad.mit.edu 37 15 90320121 90320144 + In_Frame_Del DEL AGGGGCAGGGGCAAGGGCAGGGGC AGGGGCAGGGGCAAGGGCAGGGGC - rs56192595 TCGA-D3-A2JL-06A-11D-A196-08 TCGA-D3-A2JL-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 06d6341f-cb6d-4a7e-9213-c7bb394aca56 bf91785e-7b33-4bd0-8ff5-c20c20b4e985 g.chr15:90320121_90320144delAGGGGCAGGGGCAAGGGCAGGGGC ENST00000341735.3 + 1 533_556 c.533_556delAGGGGCAGGGGCAAGGGCAGGGGC c.(532-558)gag>g p.EGQGQGQGQ178del MESP2_ENST00000558723.1_Intron|MESP2_ENST00000560219.1_Intron NM_001039958.1 NP_001035047.1 Q0VG99 MESP2_HUMAN mesoderm posterior 2 homolog (mouse) 178 Notch signaling pathway nucleus DNA binding p.Q198_G205delQGQGQGQG(1) kidney(1)|large_intestine(2)|lung(1)|skin(1)|upper_aerodigestive_tract(1) 6 Lung NSC(78;0.0221)|all_lung(78;0.0448) BRCA - Breast invasive adenocarcinoma(143;0.0146)|KIRC - Kidney renal clear cell carcinoma(17;0.0286)|Kidney(142;0.0514) ACGCaggcggaggggcaggggcaagggcaggggcaggggcaggg 0.777 2 4 --- --- --- --- COIL 8161 broad.mit.edu 37 17 55028117 55028118 + Frame_Shift_Ins INS - - T TCGA-D3-A2JL-06A-11D-A196-08 TCGA-D3-A2JL-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 06d6341f-cb6d-4a7e-9213-c7bb394aca56 bf91785e-7b33-4bd0-8ff5-c20c20b4e985 g.chr17:55028117_55028118insT ENST00000240316.4 - 2 519_520 c.485_486insA c.(484-486)aaafs p.K162fs NM_004645.2 NP_004636.1 P38432 COIL_HUMAN coilin 162 Cajal body|nucleolus protein C-terminus binding NS(1)|endometrium(4)|kidney(1)|large_intestine(1)|lung(4)|ovary(1)|prostate(2)|urinary_tract(1) 15 Breast(9;6.15e-08) TTTTTCTCTTGTTTTTTTTGCT 0.366 15 270 --- --- --- --- SMDT1 91689 broad.mit.edu 37 22 42478046 42478048 + In_Frame_Del DEL GAT GAT - rs141840500 TCGA-D3-A2JL-06A-11D-A196-08 TCGA-D3-A2JL-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 06d6341f-cb6d-4a7e-9213-c7bb394aca56 bf91785e-7b33-4bd0-8ff5-c20c20b4e985 g.chr22:42478046_42478048delGAT ENST00000331479.3 + 2 378_380 c.304_306delGAT c.(304-306)del p.D107del SMDT1_ENST00000547929.1_Intron NM_033318.4 NP_201575.3 single-pass membrane protein with aspartate-rich tail 1 TGTTCCAGAGGATGATGATGATG 0.478 7 253 --- --- --- ---