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 validation_method t_ref_count validation_status validation_tumor_sample t_alt_count validation_alt_allele pox qox pox_cutoff isArtifactMode oxoGCut PDILT 204474 broad.mit.edu 37 16 20380929 20380929 + Missense_Mutation SNP G A A TCGA-EE-A3AC-06A-11D-A196-08 TCGA-EE-A3AC-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 883d623b-c427-4444-9ee3-66d18648130f f8f00311-8db5-4187-bcb8-5054d9fbdac3 g.chr16:20380929G>A uc002dhc.1 - 7 1224 c.1001C>T c.(1000-1002)cCa>cTa p.P334L NM_174924 NP_777584 Q8N807 PDILT_HUMAN Homo sapiens protein disulfide isomerase-like, testis expressed (PDILT), mRNA. 334 cell differentiation|cell redox homeostasis|multicellular organismal development|spermatogenesis endoplasmic reticulum isomerase activity breast(2)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(13)|liver(1)|lung(33)|prostate(3)|skin(1)|urinary_tract(1) 61 TTGGACGGATGGGATATCGAC 0.468000 69 52 0 0 0.000781405 0 0 RABL3 285282 broad.mit.edu 37 3 120424951 120424951 + Silent SNP G A A TCGA-EE-A3AC-06A-11D-A196-08 TCGA-EE-A3AC-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 883d623b-c427-4444-9ee3-66d18648130f f8f00311-8db5-4187-bcb8-5054d9fbdac3 g.chr3:120424951G>A uc003edx.3 - 3 309 c.279C>T c.(277-279)ttC>ttT p.F93F NM_173825 NP_776186 Q5HYI8 RABL3_HUMAN Homo sapiens RAB, member of RAS oncogene family-like 3 (RABL3), mRNA. 93 Small GTPase-like. small GTPase mediated signal transduction GTP binding breast(1)|endometrium(1)|kidney(2)|large_intestine(3)|lung(10) 17 GBM - Glioblastoma multiforme(114;0.151) AGTCGTGTACGAAAATAATAC 0.378000 33 22 0 0 0.00188189 0 0 LIM2 3982 broad.mit.edu 37 19 51883763 51883763 + Silent SNP G A A TCGA-EE-A3AC-06A-11D-A196-08 TCGA-EE-A3AC-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 883d623b-c427-4444-9ee3-66d18648130f f8f00311-8db5-4187-bcb8-5054d9fbdac3 g.chr19:51883763G>A uc002pwl.2 - 3 626 c.582C>T c.(580-582)ttC>ttT p.F194F LIM2_uc002pwm.2_Silent_p.F152F NM_030657 NP_085915 P55344 LMIP_HUMAN Homo sapiens lens intrinsic membrane protein 2, 19kDa (LIM2), transcript variant 1, mRNA. 152 cell-cell junction assembly cell junction|integral to membrane structural constituent of eye lens p.F194F(2) endometrium(1)|large_intestine(3)|lung(2)|skin(1) 7 all_neural(266;0.0529) GBM - Glioblastoma multiforme(134;0.000214)|OV - Ovarian serous cystadenocarcinoma(262;0.00985) CAGTACCTGCGAAGAACGTCA 0.617000 87 46 0 0 0.000781405 0 0 SERPINA7 6906 broad.mit.edu 37 X 105279279 105279279 + Silent SNP C T T TCGA-EE-A3AC-06A-11D-A196-08 TCGA-EE-A3AC-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 883d623b-c427-4444-9ee3-66d18648130f f8f00311-8db5-4187-bcb8-5054d9fbdac3 g.chrX:105279279C>T uc010npd.3 - 1 955 c.720G>A c.(718-720)caG>caA p.Q240Q SERPINA7_uc004eme.2_Silent_p.Q240Q|SERPINA7_uc010npe.2_Silent_p.Q240Q NM_000354 NP_000345 P05543 THBG_HUMAN Homo sapiens serpin peptidase inhibitor, clade A (alpha-1 antiproteinase, antitrypsin), member 7 (SERPINA7), mRNA. 240 regulation of proteolysis extracellular space serine-type endopeptidase inhibitor activity endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(14)|ovary(1)|skin(3) 24 Levothyroxine(DB00451)|Liothyronine(DB00279) ATTGTTCCATCTGGTGCATCA 0.453000 7 19 0 0 0.00152264 0 0 OR2M3 127062 broad.mit.edu 37 1 248366844 248366844 + Missense_Mutation SNP G A A TCGA-EE-A3AC-06A-11D-A196-08 TCGA-EE-A3AC-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 883d623b-c427-4444-9ee3-66d18648130f f8f00311-8db5-4187-bcb8-5054d9fbdac3 g.chr1:248366844G>A uc010pzg.2 + 0 475 c.475G>A c.(475-477)Gat>Aat p.D159N NM_001004689 NP_001004689 Q8NG83 OR2M3_HUMAN Homo sapiens olfactory receptor, family 2, subfamily M, member 3 (OR2M3), mRNA. 159 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity endometrium(6)|large_intestine(4)|lung(33)|ovary(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(1) 50 all_cancers(71;0.000149)|all_epithelial(71;1.27e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136) OV - Ovarian serous cystadenocarcinoma(106;0.0245) TGGAATTATTGATGTTGTAGC 0.463000 68 25 0 0 0.00047179 0 0 TJP2 9414 broad.mit.edu 37 9 71852825 71852826 + Missense_Mutation DNP CC TT TT TCGA-EE-A3AC-06A-11D-A196-08 TCGA-EE-A3AC-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 883d623b-c427-4444-9ee3-66d18648130f f8f00311-8db5-4187-bcb8-5054d9fbdac3 g.chr9:71852825_71852826CC>TT uc004ahe.3 + 14 2529_2530 c.2211_2212CC>TT c.(2209-2214)ggcccc>ggTTcc p.P738S TJP2_uc011lrs.2_Missense_Mutation_p.P715S|TJP2_uc011lrt.1_Missense_Mutation_p.P715S|TJP2_uc004ahd.3_Missense_Mutation_p.P738S|TJP2_uc004ahf.3_Missense_Mutation_p.P738S|TJP2_uc011lru.2_Missense_Mutation_p.P742S|TJP2_uc011lrv.2_Missense_Mutation_p.P769S NM_004817 NP_004808 Q9UDY2 ZO2_HUMAN Homo sapiens tight junction protein 2 (zona occludens 2) (TJP2), transcript variant 1, mRNA. 738 Guanylate kinase-like. cellular component disassembly involved in apoptosis adherens junction|cytoplasm|nucleus|tight junction guanylate kinase activity|protein binding p.G737S(1) NS(1)|breast(1)|central_nervous_system(1)|endometrium(8)|kidney(2)|large_intestine(5)|lung(9)|prostate(3)|skin(3)|soft_tissue(1)|upper_aerodigestive_tract(1) 35 TCTTATTCGGCCCCATAGCTGA 0.386000 32 13 0 0 6.4e-05 0 0 THADA 63892 broad.mit.edu 37 2 43519318 43519318 + Missense_Mutation SNP G A A TCGA-EE-A3AC-06A-11D-A196-08 TCGA-EE-A3AC-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 883d623b-c427-4444-9ee3-66d18648130f f8f00311-8db5-4187-bcb8-5054d9fbdac3 g.chr2:43519318G>A uc002rsw.4 - 32 5214 c.4862C>T c.(4861-4863)cCc>cTc p.P1621L THADA_uc010far.3_Missense_Mutation_p.P816L|THADA_uc002rsx.4_Missense_Mutation_p.P1621L|THADA_uc002rsy.4_Non-coding_Transcript NM_001083953 NP_071348 Q6YHU6 THADA_HUMAN Homo sapiens thyroid adenoma associated (THADA), transcript variant 3, mRNA. 1621 binding breast(1)|endometrium(9)|kidney(5)|large_intestine(9)|liver(1)|lung(28)|ovary(4)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(5) 66 Acute lymphoblastic leukemia(82;0.00361)|all_hematologic(82;0.00837) CTCCGTCTGGGGAAGCCACTC 0.478000 228 122 0 0 0.000781405 0 0 STAT5B 6777 broad.mit.edu 37 17 40370242 40370242 + Missense_Mutation SNP G T T TCGA-EE-A3AC-06A-11D-A196-08 TCGA-EE-A3AC-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 883d623b-c427-4444-9ee3-66d18648130f f8f00311-8db5-4187-bcb8-5054d9fbdac3 g.chr17:40370242G>T uc002hzh.3 - 8 1265 c.1096C>A c.(1096-1098)Ccc>Acc p.P366T STAT5B_uc002hzi.3_Missense_Mutation_p.P366T NM_012448 NP_036580 P51692 STA5B_HUMAN Homo sapiens signal transducer and activator of transcription 5B (STAT5B), mRNA. 366 2-oxoglutarate metabolic process|JAK-STAT cascade involved in growth hormone signaling pathway|allantoin metabolic process|citrate metabolic process|creatine metabolic process|creatinine metabolic process|fatty acid metabolic process|isoleucine metabolic process|oxaloacetate metabolic process|response to estradiol stimulus|succinate metabolic process|taurine metabolic process|valine metabolic process cytosol|nucleoplasm calcium ion binding|glucocorticoid receptor binding|sequence-specific DNA binding transcription factor activity breast(2)|endometrium(3)|kidney(2)|large_intestine(5)|lung(5)|ovary(3)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 27 all_cancers(22;4.15e-07)|all_epithelial(22;2.83e-05)|Breast(137;0.000143) BRCA - Breast invasive adenocarcinoma(366;0.135) Dasatinib(DB01254) ACCTGGGGGGGGTTCATGTGC 0.572000 21 23 9.95505e-16 4.58739e-15 0.00229938 1 0 FCRL2 79368 broad.mit.edu 37 1 157738389 157738389 + Missense_Mutation SNP C T T TCGA-EE-A3AC-06A-11D-A196-08 TCGA-EE-A3AC-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 883d623b-c427-4444-9ee3-66d18648130f f8f00311-8db5-4187-bcb8-5054d9fbdac3 g.chr1:157738389C>T uc001fre.2 - 4 757 c.698G>A c.(697-699)gGa>gAa p.G233E FCRL2_uc001frd.2_5'Flank|FCRL2_uc010phz.1_Missense_Mutation_p.G233E|FCRL2_uc009wsp.2_Intron NM_030764 NP_110391 Q96LA5 FCRL2_HUMAN Homo sapiens Fc receptor-like 2 (FCRL2), mRNA. 233 Ig-like C2-type 3. cell-cell signaling integral to membrane|plasma membrane|soluble fraction SH3/SH2 adaptor activity|receptor activity central_nervous_system(2)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(7)|lung(29)|ovary(1)|pancreas(1)|prostate(3)|skin(2) 51 all_hematologic(112;0.0378) LUSC - Lung squamous cell carcinoma(543;0.24) TGTGACATTTCCTGTACCCCC 0.542000 116 48 0 0 0.000781405 0 0 OR4N4 283694 broad.mit.edu 37 15 22382940 22382940 + Silent SNP C T T TCGA-EE-A3AC-06A-11D-A196-08 TCGA-EE-A3AC-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 883d623b-c427-4444-9ee3-66d18648130f f8f00311-8db5-4187-bcb8-5054d9fbdac3 g.chr15:22382940C>T uc001yuc.1 + 6 1449 c.468C>T c.(466-468)tcC>tcT p.S156S abParts_uc001yuj.2_Intron|OR4N4_uc001yub.1_Intron|OR4N4_uc010tzv.2_Silent_p.S156S NM_001005241 NP_001005241 Q8N0Y3 OR4N4_HUMAN Homo sapiens olfactory receptor, family 4, subfamily N, member 4 (OR4N4), mRNA. 156 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity breast(1)|endometrium(3)|kidney(3)|large_intestine(6)|lung(19)|ovary(4)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1) 40 all_cancers(20;1.94e-20)|all_epithelial(15;3.94e-18)|Lung NSC(15;8.53e-15)|all_lung(15;2.87e-14)|Breast(32;0.00519)|Colorectal(260;0.101) GBM - Glioblastoma multiforme(6;0.124) all cancers(64;1.64e-11)|Epithelial(43;5.81e-10)|BRCA - Breast invasive adenocarcinoma(123;0.000255)|Kidney(6;0.00736)|KIRC - Kidney renal clear cell carcinoma(6;0.0135)|GBM - Glioblastoma multiforme(186;0.0963) TTGTCCACTCCATTATCCAGG 0.532000 85 14 0 0 0.00121646 0 0 TSHZ2 128553 broad.mit.edu 37 20 51870638 51870638 + Missense_Mutation SNP G A A TCGA-EE-A3AC-06A-11D-A196-08 TCGA-EE-A3AC-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 883d623b-c427-4444-9ee3-66d18648130f f8f00311-8db5-4187-bcb8-5054d9fbdac3 g.chr20:51870638G>A uc002xwo.3 + 1 1528 c.641G>A c.(640-642)aGa>aAa p.R214K TSHZ2_uc021wex.1_Missense_Mutation_p.R211K NM_173485 NP_775756 Q9NRE2 TSH2_HUMAN Homo sapiens teashirt zinc finger homeobox 2 (TSHZ2), transcript variant 1, mRNA. 214 multicellular organismal development nucleus sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding 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) GGGGCCAGCAGATTCCGATGC 0.562000 47 12 0 0 0.00136819 0 0 CIB2 10518 broad.mit.edu 37 15 78401717 78401717 + Missense_Mutation SNP G A A TCGA-EE-A3AC-06A-11D-A196-08 TCGA-EE-A3AC-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 883d623b-c427-4444-9ee3-66d18648130f f8f00311-8db5-4187-bcb8-5054d9fbdac3 g.chr15:78401717G>A uc010ums.1 - 3 527 c.206C>T c.(205-207)cCc>cTc p.P69L CIB2_uc002bdb.1_Missense_Mutation_p.P69L|CIB2_uc002bdc.1_Missense_Mutation_p.P26L NM_006383 NP_006374 O75838 CIB2_HUMAN Homo sapiens calcium and integrin binding family member 2 (CIB2), mRNA. 69 EF-hand 1. calcium ion binding p.P69P(1) NS(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(2)|prostate(1) 11 TTCTTTGAAGGGATTCTCCTG 0.552000 31 29 0 0 0.000953801 0 0 BIRC6 57448 broad.mit.edu 37 2 32689721 32689721 + Missense_Mutation SNP C T T TCGA-EE-A3AC-06A-11D-A196-08 TCGA-EE-A3AC-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 883d623b-c427-4444-9ee3-66d18648130f f8f00311-8db5-4187-bcb8-5054d9fbdac3 g.chr2:32689721C>T uc010ezu.3 + 24 5220 c.5086C>T c.(5086-5088)Ccc>Tcc p.P1696S NM_016252 NP_057336 Q9NR09 BIRC6_HUMAN Homo sapiens baculoviral IAP repeat containing 6 (BIRC6), mRNA. 1696 anti-apoptosis|apoptosis intracellular acid-amino acid ligase activity|cysteine-type endopeptidase inhibitor activity|protein binding NS(4)|breast(8)|central_nervous_system(3)|endometrium(21)|haematopoietic_and_lymphoid_tissue(1)|kidney(15)|large_intestine(31)|lung(65)|ovary(7)|pancreas(1)|prostate(5)|skin(5)|stomach(1)|urinary_tract(5) 172 Acute lymphoblastic leukemia(172;0.155) TGTTATTCCACCCACTCCAAA 0.488000 35 16 0 0 0.00074312 0 0 SPACA3 124912 broad.mit.edu 37 17 31323938 31323938 + Missense_Mutation SNP G A A TCGA-EE-A3AC-06A-11D-A196-08 TCGA-EE-A3AC-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 883d623b-c427-4444-9ee3-66d18648130f f8f00311-8db5-4187-bcb8-5054d9fbdac3 g.chr17:31323938G>A uc002hhs.1 + 2 496 c.421G>A c.(421-423)Ggg>Agg p.G141R SPACA3_uc010cte.1_Non-coding_Transcript NM_173847 NP_776246 Q8IXA5 SACA3_HUMAN Homo sapiens sperm acrosome associated 3 (SPACA3), mRNA. 141 cell wall macromolecule catabolic process|defense response to Gram-positive bacterium|monocyte activation|peptidoglycan catabolic process|positive regulation of macrophage activation|positive regulation of phagocytosis|response to virus acrosomal membrane|extracellular region|integral to membrane|lysosome bacterial cell surface binding|lysozyme activity|protein binding breast(1)|endometrium(1)|large_intestine(3)|lung(10)|ovary(2)|urinary_tract(1) 18 BRCA - Breast invasive adenocarcinoma(9;0.193) CACCAACAACGGGATCTTCCA 0.592000 73 33 0 0 0.000953801 0 0 NXF4 55999 broad.mit.edu 37 X 101818438 101818438 + RNA SNP G A A TCGA-EE-A3AC-06A-11D-A196-08 TCGA-EE-A3AC-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 883d623b-c427-4444-9ee3-66d18648130f f8f00311-8db5-4187-bcb8-5054d9fbdac3 g.chrX:101818438G>A uc004ejf.1 + 6 c.1028G>A Homo sapiens nuclear RNA export factor 4 pseudogene (NXF4), non-coding RNA. endometrium(2)|lung(8) 10 TCATTGAAAGGAATTTCCCTG 0.443000 5 17 0 0 0.00074312 0 0 MYCBP2 23077 broad.mit.edu 37 13 77635390 77635390 + Missense_Mutation SNP C T T TCGA-EE-A3AC-06A-11D-A196-08 TCGA-EE-A3AC-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 883d623b-c427-4444-9ee3-66d18648130f f8f00311-8db5-4187-bcb8-5054d9fbdac3 g.chr13:77635390C>T uc021rks.1 - 75 13217 c.12950G>A c.(12949-12951)gGt>gAt p.G4317D MYCBP2_uc010aev.3_Missense_Mutation_p.G3683D|MYCBP2_uc001vke.3_Missense_Mutation_p.G896D NM_015057 NP_055872 O75592 MYCB2_HUMAN Homo sapiens MYC binding protein 2 (MYCBP2), mRNA. 4279 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus ligase activity|protein binding|zinc ion binding NS(1)|autonomic_ganglia(1)|breast(8)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(17)|lung(51)|ovary(5)|pancreas(2)|prostate(5)|skin(7)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(2) 118 Breast(118;0.212)|Acute lymphoblastic leukemia(28;0.22) GBM - Glioblastoma multiforme(99;0.109) TCTACCACAACCTTCATGAAG 0.363000 33 15 0 0 0.000308642 0 0 TFAP2A 7020 broad.mit.edu 37 6 10410440 10410440 + Silent SNP G A A TCGA-EE-A3AC-06A-11D-A196-08 TCGA-EE-A3AC-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 883d623b-c427-4444-9ee3-66d18648130f f8f00311-8db5-4187-bcb8-5054d9fbdac3 g.chr6:10410440G>A uc003myr.3 - 1 426 c.174C>T c.(172-174)ttC>ttT p.F58F TFAP2A_uc003myq.3_Silent_p.F52F|TFAP2A_uc003mys.3_Intron|TFAP2A_uc011dih.2_Silent_p.F58F|TFAP2A_uc003myt.3_Silent_p.F54F|TFAP2A_uc003myu.1_Silent_p.F58F|TFAP2A_uc011dii.1_Silent_p.F54F|LOC100130275_uc003myw.3_5'Flank NM_003220 NP_003211 P05549 AP2A_HUMAN Homo sapiens transcription factor AP-2 alpha (activating enhancer binding protein 2 alpha) (TFAP2A), transcript variant 1, mRNA. 58 Gln/Pro-rich (transactivation domain). ectoderm development|positive regulation of bone mineralization|positive regulation of tooth mineralization|positive regulation of transcription, DNA-dependent|regulation of transcription from RNA polymerase II promoter Golgi apparatus|centrosome|nucleus chromatin binding|protein dimerization activity|sequence-specific DNA binding transcription factor activity|transcription coactivator activity|transcription regulatory region DNA binding breast(1)|endometrium(1)|large_intestine(5)|lung(5)|ovary(1) 13 Breast(50;0.0427)|Ovarian(93;0.0991) all_hematologic(90;0.107) AGGGTGGGGGGAAGTATGGGG 0.662000 14 20 0 0 0.000375601 0 0 CSMD1 64478 broad.mit.edu 37 8 2800022 2800022 + Missense_Mutation SNP C T T TCGA-EE-A3AC-06A-11D-A196-08 TCGA-EE-A3AC-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 883d623b-c427-4444-9ee3-66d18648130f f8f00311-8db5-4187-bcb8-5054d9fbdac3 g.chr8:2800022C>T uc022aqr.1 - 68 10897 c.10507G>A c.(10507-10509)Ggg>Agg p.G3503R CSMD1_uc011kwj.2_Missense_Mutation_p.G2818R|CSMD1_uc010lrg.3_Missense_Mutation_p.G1395R NM_033225 NP_150094 Q96PZ7 CSMD1_HUMAN Homo sapiens CUB and Sushi multiple domains 1 (CSMD1), mRNA. 3504 integral to membrane breast(20)|large_intestine(5) 25 all_cancers(1;5.7e-41)|all_epithelial(1;2.54e-36)|Lung NSC(1;7.54e-11)|all_lung(1;3.2e-10)|Hepatocellular(1;3.78e-05)|Breast(1;0.000196)|Myeloproliferative disorder(4;0.000374)|Esophageal squamous(1;0.0157)|Ovarian(12;0.091)|Renal(68;0.144)|Colorectal(14;0.234) all cancers(1;5.03e-41)|Epithelial(1;4.78e-31)|Lung(1;1.14e-14)|LUSC - Lung squamous cell carcinoma(1;2.34e-14)|GBM - Glioblastoma multiforme(1;4.49e-10)|Colorectal(4;1.18e-07)|OV - Ovarian serous cystadenocarcinoma(1;3.2e-07)|BRCA - Breast invasive adenocarcinoma(1;6.17e-07)|COAD - Colon adenocarcinoma(4;0.000539)|READ - Rectum adenocarcinoma(4;0.00896)|Kidney(5;0.00957)|KIRC - Kidney renal clear cell carcinoma(5;0.0689) AATGCAAACCCTGATAAAATT 0.438000 6 7 0 0 0.000157383 0 0 SEC14L5 9717 broad.mit.edu 37 16 5053556 5053556 + Missense_Mutation SNP C G G TCGA-EE-A3AC-06A-11D-A196-08 TCGA-EE-A3AC-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 883d623b-c427-4444-9ee3-66d18648130f f8f00311-8db5-4187-bcb8-5054d9fbdac3 g.chr16:5053556C>G uc002cye.2 + 10 1464 c.1284C>G c.(1282-1284)ttC>ttG p.F428L NM_014692 NP_055507 O43304 S14L5_HUMAN Homo sapiens SEC14-like 5 (S. cerevisiae) (SEC14L5), mRNA. 428 CRAL-TRIO. integral to membrane|intracellular transporter activity NS(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(7)|lung(9)|ovary(1)|skin(1) 29 CCCGAGTCTTCCCCGTGCTCT 0.652000 25 14 0 0 0.000566183 0 0 ANKRD45 339416 broad.mit.edu 37 1 173594003 173594003 + Missense_Mutation SNP G A A TCGA-EE-A3AC-06A-11D-A196-08 TCGA-EE-A3AC-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 883d623b-c427-4444-9ee3-66d18648130f f8f00311-8db5-4187-bcb8-5054d9fbdac3 g.chr1:173594003G>A uc001gja.1 - 4 714 c.653C>T c.(652-654)tCc>tTc p.S218F NM_198493 NP_940895 Q5TZF3 ANR45_HUMAN Homo sapiens ankyrin repeat domain 45 (ANKRD45), mRNA. 234 NS(2)|endometrium(2)|large_intestine(4)|lung(3)|skin(1) 12 CTCATTAATGGAAGCTTCTGT 0.393000 51 18 0 0 0.00074312 0 0 UGT2B15 7366 broad.mit.edu 37 4 69519884 69519884 + Missense_Mutation SNP G A A TCGA-EE-A3AC-06A-11D-A196-08 TCGA-EE-A3AC-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 883d623b-c427-4444-9ee3-66d18648130f f8f00311-8db5-4187-bcb8-5054d9fbdac3 g.chr4:69519884G>A uc021xow.1 - 4 1342 c.1184C>T c.(1183-1185)cCc>cTc p.P395L NM_001076 NP_001067 P54855 UDB15_HUMAN Homo sapiens UDP glucuronosyltransferase 2 family, polypeptide B15 (UGT2B15), mRNA. 395 steroid metabolic process|xenobiotic metabolic process endoplasmic reticulum membrane|integral to membrane|microsome glucuronosyltransferase activity CGCAAACAAGGGAATGCCCAC 0.463000 74 16 0 0 0.00188189 0 0 IQCJ-SCHIP1 100505385 broad.mit.edu 37 3 159605541 159605541 + Silent SNP G A A TCGA-EE-A3AC-06A-11D-A196-08 TCGA-EE-A3AC-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 883d623b-c427-4444-9ee3-66d18648130f f8f00311-8db5-4187-bcb8-5054d9fbdac3 g.chr3:159605541G>A uc003fcq.2 + 7 1450 c.1269G>A c.(1267-1269)gaG>gaA p.E423E IQCJ-SCHIP1_uc003fcr.2_Silent_p.E396E|IQCJ-SCHIP1_uc003fcs.2_Silent_p.E347E|IQCJ-SCHIP1_uc003fct.2_Silent_p.E334E|IQCJ-SCHIP1_uc021xgm.1_Silent_p.E115E|IQCJ-SCHIP1_uc010hvz.1_Silent_p.E307E|IQCJ-SCHIP1_uc003fcu.2_Silent_p.E104E NM_001197113 NP_001184042 Q9P0W5 SCHI1_HUMAN Homo sapiens IQCJ-SCHIP1 readthrough (IQCJ-SCHIP1), transcript variant 1, mRNA. 347 cytoplasm identical protein binding|protein binding p.E347D(1) central_nervous_system(1)|cervix(1)|endometrium(1)|large_intestine(2)|lung(7) 12 CTACTGAAGAGGAGTCTGAAT 0.468000 114 89 0 0 0.000781405 0 0 HSD17B2 3294 broad.mit.edu 37 16 82131705 82131705 + Nonsense_Mutation SNP G A A TCGA-EE-A3AC-06A-11D-A196-08 TCGA-EE-A3AC-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 883d623b-c427-4444-9ee3-66d18648130f f8f00311-8db5-4187-bcb8-5054d9fbdac3 g.chr16:82131705G>A uc002fgv.3 + 4 1000 c.828G>A c.(826-828)tgG>tgA p.W276* NM_002153 NP_002144 P37059 DHB2_HUMAN Homo sapiens hydroxysteroid (17-beta) dehydrogenase 2 (HSD17B2), mRNA. 276 response to retinoic acid|steroid biosynthetic process endoplasmic reticulum membrane|integral to membrane 17-alpha,20-alpha-dihydroxypregn-4-en-3-one dehydrogenase activity|binding|estradiol 17-beta-dehydrogenase activity|testosterone 17-beta-dehydrogenase (NAD+) activity breast(2)|central_nervous_system(1)|endometrium(1)|large_intestine(3)|lung(1)|ovary(1)|upper_aerodigestive_tract(1) 10 NADH(DB00157) GTGACAAGTGGGAAAAGCTGG 0.537000 23 18 0 0 0.000958276 0 0 FCHSD2 9873 broad.mit.edu 37 11 72600882 72600882 + Missense_Mutation SNP G T T TCGA-EE-A3AC-06A-11D-A196-08 TCGA-EE-A3AC-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 883d623b-c427-4444-9ee3-66d18648130f f8f00311-8db5-4187-bcb8-5054d9fbdac3 g.chr11:72600882G>T uc009ytl.3 - 10 1254 c.1033C>A c.(1033-1035)Caa>Aaa p.Q345K FCHSD2_uc010rrg.2_Missense_Mutation_p.Q209K|FCHSD2_uc001oth.4_Missense_Mutation_p.Q289K|FCHSD2_uc001oti.2_Missense_Mutation_p.Q304K NM_014824 NP_055639 O94868 FCSD2_HUMAN Homo sapiens FCH and double SH3 domains 2 (FCHSD2), mRNA. 345 protein binding endometrium(2)|large_intestine(11)|lung(5)|ovary(2)|prostate(1)|skin(1) 22 BRCA - Breast invasive adenocarcinoma(5;3.3e-05) ACCCGTTGTTGGTGAACAATG 0.398000 405 12 0.000219431 0.00100175 0.000219431 1 0 UBA6 55236 broad.mit.edu 37 4 68543347 68543347 + Silent SNP G A A TCGA-EE-A3AC-06A-11D-A196-08 TCGA-EE-A3AC-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 883d623b-c427-4444-9ee3-66d18648130f f8f00311-8db5-4187-bcb8-5054d9fbdac3 g.chr4:68543347G>A uc003hdg.4 - 5 499 c.447C>T c.(445-447)tcC>tcT p.S149S UBA6_uc003hdi.3_Silent_p.S149S|UBA6_uc003hdj.2_Silent_p.S149S NM_018227 NP_060697 A0AVT1 UBA6_HUMAN Homo sapiens ubiquitin-like modifier activating enzyme 6 (UBA6), mRNA. 149 protein ubiquitination|ubiquitin-dependent protein catabolic process cytoplasm ATP binding|FAT10 activating enzyme activity|ligase activity|protein binding central_nervous_system(1)|endometrium(5)|kidney(4)|large_intestine(6)|liver(1)|lung(23)|skin(2)|upper_aerodigestive_tract(2) 44 TATCTAAAAAGGAGAGATCTG 0.313000 30 19 0 0 0.000958276 0 0 KIR3DX1 90011 broad.mit.edu 37 19 55045054 55045054 + RNA SNP G A A TCGA-EE-A3AC-06A-11D-A196-08 TCGA-EE-A3AC-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 883d623b-c427-4444-9ee3-66d18648130f f8f00311-8db5-4187-bcb8-5054d9fbdac3 g.chr19:55045054G>A uc010yfa.1 + 2 c.280G>A KIR3DX1_uc010yfb.1_Non-coding_Transcript|KIR3DX1_uc010yfc.1_Non-coding_Transcript|KIR3DX1_uc010yfd.1_Non-coding_Transcript Homo sapiens killer cell immunoglobulin-like receptor, three domains, X1 (KIR3DX1), non-coding RNA. endometrium(1)|kidney(2)|large_intestine(4)|lung(14)|ovary(1)|pancreas(1)|skin(1) 24 GBM - Glioblastoma multiforme(193;0.099) TTGTCATATGGACAATATTCC 0.547000 26 9 0 0 0.000274275 0 0 STAB2 55576 broad.mit.edu 37 12 104067779 104067779 + Silent SNP C T T TCGA-EE-A3AC-06A-11D-A196-08 TCGA-EE-A3AC-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 883d623b-c427-4444-9ee3-66d18648130f f8f00311-8db5-4187-bcb8-5054d9fbdac3 g.chr12:104067779C>T uc001tjw.3 + 22 2652 c.2466C>T c.(2464-2466)ctC>ctT p.L822L NM_017564 NP_060034 Q8WWQ8 STAB2_HUMAN Homo sapiens stabilin 2 (STAB2), mRNA. 822 angiogenesis|cell adhesion|defense response to bacterium|receptor-mediated endocytosis cytoplasm|external side of plasma membrane|integral to plasma membrane Gram-negative bacterial cell surface binding|hyaluronic acid binding|low-density lipoprotein receptor activity|protein disulfide oxidoreductase activity|scavenger receptor activity NS(4)|breast(7)|central_nervous_system(1)|cervix(1)|endometrium(15)|kidney(11)|large_intestine(26)|lung(77)|ovary(10)|pancreas(1)|prostate(5)|skin(14)|stomach(2) 174 CCGGGAGACTCTGTGATAAGC 0.562000 40 20 0 0 0.00152264 0 0 FSHR 2492 broad.mit.edu 37 2 49210076 49210076 + Missense_Mutation SNP G A A TCGA-EE-A3AC-06A-11D-A196-08 TCGA-EE-A3AC-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 883d623b-c427-4444-9ee3-66d18648130f f8f00311-8db5-4187-bcb8-5054d9fbdac3 g.chr2:49210076G>A uc002rww.3 - 7 753 c.643C>T c.(643-645)Cac>Tac p.H215Y FSHR_uc010fbn.3_Missense_Mutation_p.H189Y|FSHR_uc002rwx.3_Missense_Mutation_p.H215Y NM_000145 NP_000136 P23945 FSHR_HUMAN Homo sapiens follicle stimulating hormone receptor (FSHR), transcript variant 1, mRNA. 215 female gamete generation|male gonad development|spermatogenesis integral to membrane|plasma membrane follicle-stimulating hormone receptor activity|protein binding NS(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(10)|liver(1)|lung(45)|ovary(4)|pancreas(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2) 73 all_hematologic(82;0.152)|Acute lymphoblastic leukemia(82;0.181) Lung(47;0.101)|LUSC - Lung squamous cell carcinoma(58;0.151) Choriogonadotropin alfa(DB00097)|Follitropin beta(DB00066)|Menotropins(DB00032)|Urofollitropin(DB00094) GAGGCTCCGTGGAAAACATCA 0.418000 Gonadal Dysgenesis, 46 XX 18 12 0 0 0.00136819 0 0 CDK5RAP2 55755 broad.mit.edu 37 9 123330627 123330627 + Missense_Mutation SNP C T T TCGA-EE-A3AC-06A-11D-A196-08 TCGA-EE-A3AC-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 883d623b-c427-4444-9ee3-66d18648130f f8f00311-8db5-4187-bcb8-5054d9fbdac3 g.chr9:123330627C>T uc004bkf.3 - 2 348 c.167G>A c.(166-168)aGa>aAa p.R56K CDK5RAP2_uc004bkg.3_Missense_Mutation_p.R56K|CDK5RAP2_uc011lxw.2_5'UTR|CDK5RAP2_uc011lxx.2_Non-coding_Transcript|CDK5RAP2_uc011lxy.2_Non-coding_Transcript|CDK5RAP2_uc011lxz.2_5'UTR|CDK5RAP2_uc011lya.2_5'UTR|CDK5RAP2_uc004bkh.1_Missense_Mutation_p.R56K NM_018249 NP_060719 Q96SN8 CK5P2_HUMAN Homo sapiens CDK5 regulatory subunit associated protein 2 (CDK5RAP2), transcript variant 1, mRNA. 56 G2/M transition of mitotic cell cycle|brain development|centrosome organization|chromosome segregation|microtubule bundle formation|negative regulation of centriole replication|positive regulation of transcription, DNA-dependent|regulation of neuron differentiation|regulation of spindle checkpoint Golgi apparatus|cytosol|microtubule|pericentriolar material|perinuclear region of cytoplasm|spindle pole calmodulin binding|microtubule binding|neuronal Cdc2-like kinase binding|transcription regulatory region DNA binding breast(6)|central_nervous_system(1)|endometrium(3)|kidney(4)|large_intestine(12)|lung(21)|ovary(2)|prostate(2)|skin(6)|urinary_tract(1) 58 GTTCCGTGCTCTGGTGGGAGA 0.453000 83 67 0 0 0.000781405 0 0 RGS3 5998 broad.mit.edu 37 9 116260307 116260307 + Missense_Mutation SNP C T T TCGA-EE-A3AC-06A-11D-A196-08 TCGA-EE-A3AC-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 883d623b-c427-4444-9ee3-66d18648130f f8f00311-8db5-4187-bcb8-5054d9fbdac3 g.chr9:116260307C>T uc004bhq.3 + 10 1053 c.844C>T c.(844-846)Ccg>Tcg p.P282S RGS3_uc004bhr.3_Missense_Mutation_p.P170S|RGS3_uc004bhs.3_Missense_Mutation_p.P172S NM_144488 NP_652759 P49796 RGS3_HUMAN Homo sapiens regulator of G-protein signaling 3 (RGS3), transcript variant 6, mRNA. 282 inactivation of MAPK activity|regulation of G-protein coupled receptor protein signaling pathway cytosol|nucleus|plasma membrane GTPase activator activity|signal transducer activity cervix(1)|endometrium(3)|kidney(5)|large_intestine(11)|lung(22)|ovary(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(2) 48 CCTTCCAGACCCGCTGCTGAG 0.567000 22 9 0 0 0.000442599 0 0 DNASE2B 58511 broad.mit.edu 37 1 84880389 84880389 + Nonsense_Mutation SNP G A A TCGA-EE-A3AC-06A-11D-A196-08 TCGA-EE-A3AC-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 883d623b-c427-4444-9ee3-66d18648130f f8f00311-8db5-4187-bcb8-5054d9fbdac3 g.chr1:84880389G>A uc001djt.1 + 5 957 c.924G>A c.(922-924)tgG>tgA p.W308* DNASE2B_uc001dju.1_Nonsense_Mutation_p.W100*|DNASE2B_uc009wch.1_Nonsense_Mutation_p.W100* NM_021233 NP_067056 Q8WZ79 DNS2B_HUMAN Homo sapiens deoxyribonuclease II beta (DNASE2B), transcript variant 1, mRNA. 308 DNA metabolic process lysosome deoxyribonuclease II activity endometrium(1)|lung(4)|skin(1) 6 all cancers(265;0.00303)|Epithelial(280;0.0112)|OV - Ovarian serous cystadenocarcinoma(397;0.0808) ATGCCAAGTGGTGTATTTCCC 0.408000 19 19 0 0 0.00121646 0 0 DNAH7 56171 broad.mit.edu 37 2 196659171 196659171 + Missense_Mutation SNP C T T TCGA-EE-A3AC-06A-11D-A196-08 TCGA-EE-A3AC-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 883d623b-c427-4444-9ee3-66d18648130f f8f00311-8db5-4187-bcb8-5054d9fbdac3 g.chr2:196659171C>T uc002utj.4 - 56 10708 c.10607G>A c.(10606-10608)gGa>gAa p.G3536E DNAH7_uc002uti.4_Missense_Mutation_p.G19E NM_018897 NP_061720 Q8WXX0 DYH7_HUMAN Homo sapiens dynein, axonemal, heavy chain 7 (DNAH7), mRNA. 3536 AAA 6 (By similarity). ciliary or flagellar motility|microtubule-based movement axonemal dynein complex|cilium axoneme|cytoplasm|microtubule ATP binding|microtubule motor activity NS(4)|breast(2)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(15)|large_intestine(28)|liver(3)|lung(100)|ovary(4)|prostate(5)|skin(26)|upper_aerodigestive_tract(2)|urinary_tract(3) 205 CATTTTCACTCCATTCTGCAG 0.458000 45 28 0 0 0.00127121 0 0 MERTK 10461 broad.mit.edu 37 2 112722775 112722775 + Silent SNP G A A TCGA-EE-A3AC-06A-11D-A196-08 TCGA-EE-A3AC-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 883d623b-c427-4444-9ee3-66d18648130f f8f00311-8db5-4187-bcb8-5054d9fbdac3 g.chr2:112722775G>A uc002thk.1 + 4 887 c.765G>A c.(763-765)acG>acA p.T255T MERTK_uc002thl.1_Silent_p.T79T NM_006343 NP_006334 Q12866 MERTK_HUMAN Homo sapiens c-mer proto-oncogene tyrosine kinase (MERTK), mRNA. 255 Ig-like C2-type 2. cell surface receptor linked signaling pathway|cell-cell signaling|leukocyte migration integral to plasma membrane|soluble fraction ATP binding|transmembrane receptor protein tyrosine kinase activity breast(1)|endometrium(3)|kidney(2)|large_intestine(6)|liver(1)|lung(18)|pancreas(1)|skin(1)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(10) 46 CAGGCCTGACGGAGATGGCGG 0.483000 50 26 0 0 0.0024448 0 0 MUC16 94025 broad.mit.edu 37 19 9077737 9077737 + Missense_Mutation SNP G A A TCGA-EE-A3AC-06A-11D-A196-08 TCGA-EE-A3AC-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 883d623b-c427-4444-9ee3-66d18648130f f8f00311-8db5-4187-bcb8-5054d9fbdac3 g.chr19:9077737G>A uc002mkp.3 - 2 9913 c.9709C>T c.(9709-9711)Ccc>Tcc p.P3237S NM_024690 NP_078966 Q8WXI7 MUC16_HUMAN Homo sapiens mucin 16, cell surface associated (MUC16), mRNA. 3238 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 GTCTCCATGGGAACAGTTGTT 0.527000 70 35 0 0 0.000814825 0 0 MUC17 140453 broad.mit.edu 37 7 100678106 100678106 + Missense_Mutation SNP G A A TCGA-EE-A3AC-06A-11D-A196-08 TCGA-EE-A3AC-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 883d623b-c427-4444-9ee3-66d18648130f f8f00311-8db5-4187-bcb8-5054d9fbdac3 g.chr7:100678106G>A uc003uxp.1 + 2 3462 c.3409G>A c.(3409-3411)Gaa>Aaa p.E1137K MUC17_uc010lho.1_Non-coding_Transcript NM_001040105 NP_001035194 Q685J3 MUC17_HUMAN Homo sapiens mucin 17, cell surface associated (MUC17), mRNA. 1137 59 X approximate tandem repeats.|Ser-rich. extracellular region|integral to membrane|plasma membrane extracellular matrix constituent, lubricant activity NS(3)|breast(14)|central_nervous_system(2)|cervix(2)|endometrium(27)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(28)|lung(179)|ovary(19)|pancreas(1)|prostate(13)|skin(26)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(4) 343 Lung NSC(181;0.136)|all_lung(186;0.182) CACTTCTACTGAAGCCAGTTC 0.532000 177 109 0 0 0.000781405 0 0 ROBO3 64221 broad.mit.edu 37 11 124749733 124749733 + Silent SNP C T T TCGA-EE-A3AC-06A-11D-A196-08 TCGA-EE-A3AC-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 883d623b-c427-4444-9ee3-66d18648130f f8f00311-8db5-4187-bcb8-5054d9fbdac3 g.chr11:124749733C>T uc001qbc.3 + 25 4016 c.3847C>T c.(3847-3849)Cta>Tta p.L1283L ROBO3_uc001qbd.2_Silent_p.L208L|ROBO3_uc010sar.2_Silent_p.L332L|ROBO3_uc001qbe.3_Silent_p.L208L|ROBO3_uc001qbf.1_Silent_p.L167L NM_022370 NP_071765 Q96MS0 ROBO3_HUMAN Homo sapiens roundabout, axon guidance receptor, homolog 3 (Drosophila) (ROBO3), mRNA. 1283 axon midline choice point recognition integral to membrane receptor activity breast(2)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(17)|ovary(1)|prostate(3)|upper_aerodigestive_tract(1) 35 all_hematologic(175;0.215) Lung NSC(97;0.0177)|all_lung(97;0.0179)|Medulloblastoma(222;0.0425)|Breast(109;0.0481)|all_neural(223;0.112) BRCA - Breast invasive adenocarcinoma(274;1.5e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0296) GAGCTGGGCCCTAGAGCTGAG 0.677000 16 6 0 0 0.00198382 0 0 TTC4 7268 broad.mit.edu 37 1 55188376 55188376 + Silent SNP C T T TCGA-EE-A3AC-06A-11D-A196-08 TCGA-EE-A3AC-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 883d623b-c427-4444-9ee3-66d18648130f f8f00311-8db5-4187-bcb8-5054d9fbdac3 g.chr1:55188376C>T uc001cxv.3 + 4 663 c.531C>T c.(529-531)caC>caT p.H177H HEATR8_uc001cxq.3_Non-coding_Transcript|TTC4_uc001cxx.4_Silent_p.H166H O95801 TTC4_HUMAN Homo sapiens tetratricopeptide repeat domain 4 (TTC4), mRNA. 166 binding breast(2)|endometrium(3)|kidney(1)|lung(2)|stomach(1) 9 AACTGAAACACTTTGCCGAGG 0.483000 55 42 0 0 0.000781405 0 0 SLC12A3 6559 broad.mit.edu 37 16 56928513 56928513 + Silent SNP C T T TCGA-EE-A3AC-06A-11D-A196-08 TCGA-EE-A3AC-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 883d623b-c427-4444-9ee3-66d18648130f f8f00311-8db5-4187-bcb8-5054d9fbdac3 g.chr16:56928513C>T uc002ekd.4 + 21 2648 c.2619C>T c.(2617-2619)ttC>ttT p.F873F SLC12A3_uc010ccm.3_Silent_p.F864F|SLC12A3_uc010ccn.3_Silent_p.F872F NM_000339 NP_000330 P55017 S12A3_HUMAN Homo sapiens solute carrier family 12 (sodium/chloride transporters), member 3 (SLC12A3), transcript variant 1, mRNA. 864 sodium ion transmembrane transport apical plasma membrane|integral to plasma membrane|membrane fraction sodium:chloride symporter activity breast(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(28)|ovary(2)|prostate(1)|skin(1)|stomach(1)|urinary_tract(1) 50 Bendroflumethiazide(DB00436)|Benzthiazide(DB00562)|Chlorothiazide(DB00880)|Diazoxide(DB01119)|Hydrochlorothiazide(DB00999)|Metolazone(DB00524)|Polythiazide(DB01324)|Quinethazone(DB01325) TCCGTGTGTTCGTAGGCGGCC 0.582000 27 17 0 0 0.00152264 0 0 SYT10 341359 broad.mit.edu 37 12 33559763 33559763 + Silent SNP C T T TCGA-EE-A3AC-06A-11D-A196-08 TCGA-EE-A3AC-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 883d623b-c427-4444-9ee3-66d18648130f f8f00311-8db5-4187-bcb8-5054d9fbdac3 g.chr12:33559763C>T uc001rll.1 - 2 1335 c.1038G>A c.(1036-1038)agG>agA p.R346R SYT10_uc009zju.1_Silent_p.R156R NM_198992 NP_945343 Q6XYQ8 SYT10_HUMAN Homo sapiens synaptotagmin X (SYT10), mRNA. 346 cell junction|integral to membrane|synaptic vesicle membrane metal ion binding|transporter activity NS(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|liver(1)|lung(18)|ovary(1)|prostate(3)|skin(4)|urinary_tract(1) 42 Lung NSC(5;8.37e-07)|Acute lymphoblastic leukemia(23;0.0122)|all_hematologic(23;0.0334) CTGTGGCTTCCCTGGAGAGAT 0.343000 21 18 0 0 0.00188189 0 0 GRIK3 2899 broad.mit.edu 37 1 37270649 37270649 + Missense_Mutation SNP G A A TCGA-EE-A3AC-06A-11D-A196-08 TCGA-EE-A3AC-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 883d623b-c427-4444-9ee3-66d18648130f f8f00311-8db5-4187-bcb8-5054d9fbdac3 g.chr1:37270649G>A uc001caz.2 - 14 2639 c.2504C>T c.(2503-2505)tCt>tTt p.S835F GRIK3_uc001cba.1_Missense_Mutation_p.S835F NM_000831 NP_000822 Q13003 GRIK3_HUMAN Homo sapiens glutamate receptor, ionotropic, kainate 3 (GRIK3), mRNA. 835 negative regulation of synaptic transmission, glutamatergic|regulation of membrane potential|synaptic transmission cell junction|dendrite cytoplasm|integral to plasma membrane|perikaryon|postsynaptic membrane|terminal button G-protein-coupled receptor binding|adenylate cyclase inhibiting metabotropic glutamate receptor activity|extracellular-glutamate-gated ion channel activity|kainate selective glutamate receptor activity breast(4)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(27)|lung(35)|ovary(5)|prostate(3)|skin(5)|stomach(1)|urinary_tract(1) 89 Myeloproliferative disorder(586;0.0258)|all_neural(195;0.169) L-Glutamic Acid(DB00142) CACCAGCACAGAGAGGACCAG 0.592000 32 20 0 0 0.00121646 0 0 COG8 84342 broad.mit.edu 37 16 69364885 69364886 + Missense_Mutation DNP CC TT TT TCGA-EE-A3AC-06A-11D-A196-08 TCGA-EE-A3AC-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 883d623b-c427-4444-9ee3-66d18648130f f8f00311-8db5-4187-bcb8-5054d9fbdac3 g.chr16:69364885_69364886CC>TT uc002ewy.2 - 4 1766_1767 c.1695_1696GG>AA c.(1693-1698)ctggat>ctAAat p.D566N PDF_uc002ewx.1_5'Flank NM_032382 NP_115758 Q96MW5 COG8_HUMAN Homo sapiens component of oligomeric golgi complex 8 (COG8), mRNA. 566 protein transport Golgi membrane|Golgi transport complex breast(3)|kidney(1)|large_intestine(2)|ovary(2)|skin(1) 9 GCCTGGTCATCCAGGGTGAAAA 0.658000 5 4 0 0 6.4e-05 0 0 GRM1 2911 broad.mit.edu 37 6 146351187 146351187 + Silent SNP C T T TCGA-EE-A3AC-06A-11D-A196-08 TCGA-EE-A3AC-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 883d623b-c427-4444-9ee3-66d18648130f f8f00311-8db5-4187-bcb8-5054d9fbdac3 g.chr6:146351187C>T uc010khw.1 + 1 1004 c.534C>T c.(532-534)ttC>ttT p.F178F GRM1_uc010khu.1_Silent_p.F178F|GRM1_uc010khv.1_Silent_p.F178F|GRM1_uc003qll.2_Silent_p.F178F|GRM1_uc011edz.1_Silent_p.F178F|GRM1_uc011eea.1_Silent_p.F178F NM_000838 NP_000829 Q13255 GRM1_HUMAN Homo sapiens glutamate receptor, metabotropic 1 (GRM1), transcript variant 1, mRNA. 178 synaptic transmission integral to plasma membrane G-protein coupled receptor activity|glutamate receptor activity NS(2)|breast(5)|central_nervous_system(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(23)|lung(54)|ovary(7)|pancreas(2)|prostate(5)|skin(7)|upper_aerodigestive_tract(4)|urinary_tract(1) 126 Ovarian(120;0.0387) OV - Ovarian serous cystadenocarcinoma(155;5.35e-08)|GBM - Glioblastoma multiforme(68;0.00762) Acamprosate(DB00659)|L-Glutamic Acid(DB00142) TCCAGCTCTTCGACATCCCCC 0.542000 15 24 0 0 0.000586117 0 0 ULK1 8408 broad.mit.edu 37 12 132398952 132398952 + Missense_Mutation SNP C T T TCGA-EE-A3AC-06A-11D-A196-08 TCGA-EE-A3AC-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 883d623b-c427-4444-9ee3-66d18648130f f8f00311-8db5-4187-bcb8-5054d9fbdac3 g.chr12:132398952C>T uc001uje.3 + 15 1571 c.1303C>T c.(1303-1305)Ccc>Tcc p.P435S NM_003565 NP_003556 O75385 ULK1_HUMAN Homo sapiens unc-51-like kinase 1 (C. elegans) (ULK1), mRNA. 435 autophagy|protein localization|regulation of autophagy ULK1-ATG13-FIP200 complex|autophagic vacuole|cytosol|pre-autophagosomal structure ATP binding|protein complex binding|protein serine/threonine kinase activity breast(1)|central_nervous_system(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(11)|ovary(1)|prostate(2)|skin(2)|urinary_tract(2) 29 all_neural(191;0.0982)|Medulloblastoma(191;0.163) OV - Ovarian serous cystadenocarcinoma(86;2.07e-08)|Epithelial(86;2.56e-07)|all cancers(50;3.01e-07) CATCCCAGTCCCCACGCAGGT 0.637000 19 22 0 0 0.00152264 0 0 MECOM 2122 broad.mit.edu 37 3 168838981 168838981 + Missense_Mutation SNP C T T TCGA-EE-A3AC-06A-11D-A196-08 TCGA-EE-A3AC-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 883d623b-c427-4444-9ee3-66d18648130f f8f00311-8db5-4187-bcb8-5054d9fbdac3 g.chr3:168838981C>T uc011bpj.1 - 6 1398 c.995G>A c.(994-996)aGc>aAc p.S332N MECOM_uc010hwk.1_Missense_Mutation_p.S167N|MECOM_uc003ffj.3_Missense_Mutation_p.S209N|MECOM_uc003ffi.3_Missense_Mutation_p.S144N|MECOM_uc011bpi.1_Missense_Mutation_p.S145N|MECOM_uc003ffn.3_Missense_Mutation_p.S144N|MECOM_uc003ffk.2_Missense_Mutation_p.S144N|MECOM_uc003ffl.2_Missense_Mutation_p.S304N|MECOM_uc011bpk.1_Missense_Mutation_p.S144N|MECOM_uc010hwn.2_Missense_Mutation_p.S332N NM_004991 NP_004982 Q13465 MDS1_HUMAN Homo sapiens MDS1 and EVI1 complex locus (MECOM), transcript variant 4, mRNA. 0 sequence-specific DNA binding transcription factor activity NS(1)|breast(4)|central_nervous_system(1)|endometrium(9)|kidney(4)|large_intestine(13)|liver(1)|lung(28)|ovary(2)|pancreas(1)|prostate(2)|skin(12)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(4) 85 CTGAAGGTTGCTAGGGTCCGT 0.502000 17 10 0 0 0.000442599 0 0 DARS 1615 broad.mit.edu 37 2 136664915 136664915 + Missense_Mutation SNP G A A TCGA-EE-A3AC-06A-11D-A196-08 TCGA-EE-A3AC-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 883d623b-c427-4444-9ee3-66d18648130f f8f00311-8db5-4187-bcb8-5054d9fbdac3 g.chr2:136664915G>A uc002tux.1 - 15 1661 c.1477C>T c.(1477-1479)Cct>Tct p.P493S DARS_uc010fnj.1_Missense_Mutation_p.P393S NM_001349 NP_001340 P14868 SYDC_HUMAN Homo sapiens aspartyl-tRNA synthetase (DARS), mRNA. 493 aspartyl-tRNA aminoacylation|protein complex assembly cytosol|nuclear membrane|plasma membrane|soluble fraction ATP binding|aminoacylase activity|aspartate-tRNA ligase activity|nucleic acid binding|protein binding central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(4)|lung(3)|ovary(2)|urinary_tract(2) 15 BRCA - Breast invasive adenocarcinoma(221;0.168) L-Aspartic Acid(DB00128) GGATCACGAGGGAACATGGAG 0.403000 27 12 0 0 0.000978159 0 0 DZIP1 22873 broad.mit.edu 37 13 96246260 96246260 + Missense_Mutation SNP C T T TCGA-EE-A3AC-06A-11D-A196-08 TCGA-EE-A3AC-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 883d623b-c427-4444-9ee3-66d18648130f f8f00311-8db5-4187-bcb8-5054d9fbdac3 g.chr13:96246260C>T uc001vmk.3 - 15 2470 c.1618G>A c.(1618-1620)Gga>Aga p.G540R DZIP1_uc001vmj.3_Missense_Mutation_p.G16R|DZIP1_uc001vml.3_Missense_Mutation_p.G521R NM_198968 NP_945319 Q86YF9 DZIP1_HUMAN Homo sapiens DAZ interacting protein 1 (DZIP1), transcript variant 2, mRNA. 540 germ cell development|multicellular organismal development|spermatogenesis cytoplasm|nucleus nucleic acid binding|protein binding|zinc ion binding endometrium(1)|kidney(1)|large_intestine(20)|lung(11)|ovary(2)|pancreas(1)|skin(1)|stomach(1) 38 all_neural(89;0.0878)|Breast(111;0.148)|Medulloblastoma(90;0.163) BRCA - Breast invasive adenocarcinoma(86;0.141) GTTCTTAGTCCCTTAGTGAGG 0.343000 47 28 0 0 0.001512 0 0 CASC4 113201 broad.mit.edu 37 15 44673052 44673052 + Missense_Mutation SNP C T T rs150204732 TCGA-EE-A3AC-06A-11D-A196-08 TCGA-EE-A3AC-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 883d623b-c427-4444-9ee3-66d18648130f f8f00311-8db5-4187-bcb8-5054d9fbdac3 g.chr15:44673052C>T uc001ztp.3 + 7 1269 c.950C>T c.(949-951)cCt>cTt p.P317L CASC4_uc001ztq.3_Missense_Mutation_p.P317L|CASC4_uc001zto.2_Missense_Mutation_p.P317L NM_138423 NP_612432 Q6P4E1 CASC4_HUMAN Homo sapiens cancer susceptibility candidate 4 (CASC4), transcript variant 1, mRNA. 317 integral to membrane NS(1)|breast(1)|endometrium(2)|large_intestine(3)|lung(7)|ovary(1)|urinary_tract(2) 17 all_cancers(109;1.69e-13)|all_epithelial(112;3.94e-11)|Lung NSC(122;1.66e-07)|all_lung(180;1.47e-06)|Melanoma(134;0.027) all cancers(107;2.91e-20)|GBM - Glioblastoma multiforme(94;1.57e-06)|COAD - Colon adenocarcinoma(120;0.217)|Colorectal(105;0.237) AAACAGAATCCTTCCAGTCCT 0.363000 29 23 0 0 0.00178596 0 0 NRD1 4898 broad.mit.edu 37 1 52299747 52299747 + Missense_Mutation SNP C T T TCGA-EE-A3AC-06A-11D-A196-08 TCGA-EE-A3AC-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 883d623b-c427-4444-9ee3-66d18648130f f8f00311-8db5-4187-bcb8-5054d9fbdac3 g.chr1:52299747C>T uc001ctc.4 - 5 1334 c.1012G>A c.(1012-1014)Gaa>Aaa p.E338K NRD1_uc009vzb.3_Missense_Mutation_p.E33K|NRD1_uc001cte.3_Missense_Mutation_p.E206K|NRD1_uc001ctd.4_Missense_Mutation_p.E270K|NRD1_uc001ctf.2_Missense_Mutation_p.E270K|NRD1_uc010ong.1_Non-coding_Transcript|NRD1_uc009vzc.1_Missense_Mutation_p.E138K NM_002525 NP_001229290 O43847 NRDC_HUMAN Homo sapiens nardilysin (N-arginine dibasic convertase) (NRD1), transcript variant 1, mRNA. 269 cell migration|cell proliferation|neuromuscular junction development|positive regulation of membrane protein ectodomain proteolysis|proteolysis|regulation of endopeptidase activity cell surface|cytosol epidermal growth factor binding|metalloendopeptidase activity|zinc ion binding NS(1)|breast(2)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(6)|lung(9)|pancreas(1)|prostate(1)|skin(1) 27 ACAGTGCGTTCACAATCAGTT 0.373000 96 73 0 0 0.000781405 0 0 GOLGA6L5 374650 broad.mit.edu 37 15 85055759 85055759 + RNA SNP C T T TCGA-EE-A3AC-06A-11D-A196-08 TCGA-EE-A3AC-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 883d623b-c427-4444-9ee3-66d18648130f f8f00311-8db5-4187-bcb8-5054d9fbdac3 g.chr15:85055759C>T uc002bkm.2 - 5 c.801G>A Homo sapiens golgin A6 family-like 5 (pseudogene) (GOLGA6L5), non-coding RNA. AGCCTCTCCTCCTGTTCACAC 0.547000 13 6 0 0 0.000157383 0 0 SLCO2A1 6578 broad.mit.edu 37 3 133654723 133654723 + Missense_Mutation SNP G A A TCGA-EE-A3AC-06A-11D-A196-08 TCGA-EE-A3AC-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 883d623b-c427-4444-9ee3-66d18648130f f8f00311-8db5-4187-bcb8-5054d9fbdac3 g.chr3:133654723G>A uc003eqa.4 - 12 1983 c.1709C>T c.(1708-1710)gCc>gTc p.A570V NM_005630 NP_005621 Q92959 SO2A1_HUMAN Homo sapiens solute carrier organic anion transporter family, member 2A1 (SLCO2A1), mRNA. 570 sodium-independent organic anion transport integral to plasma membrane|membrane fraction prostaglandin transmembrane transporter activity|protein binding breast(3)|central_nervous_system(1)|cervix(1)|endometrium(3)|large_intestine(5)|lung(10)|ovary(1)|prostate(2)|skin(2)|stomach(2) 30 GCCATAGAGGGCTGGAGATGG 0.622000 8 4 0 0 0.00024832 0 0 PIK3C2B 5287 broad.mit.edu 37 1 204426965 204426965 + Missense_Mutation SNP G A A TCGA-EE-A3AC-06A-11D-A196-08 TCGA-EE-A3AC-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 883d623b-c427-4444-9ee3-66d18648130f f8f00311-8db5-4187-bcb8-5054d9fbdac3 g.chr1:204426965G>A uc001haw.3 - 9 2083 c.1604C>T c.(1603-1605)tCc>tTc p.S535F PIK3C2B_uc010pqv.2_Missense_Mutation_p.S535F|PIK3C2B_uc001hax.1_Missense_Mutation_p.S535F|PIK3C2B_uc009xbd.1_Non-coding_Transcript NM_002646 NP_002637 O00750 P3C2B_HUMAN Homo sapiens phosphoinositide-3-kinase, class 2, beta polypeptide (PIK3C2B), mRNA. 535 cell communication|phosphatidylinositol-mediated signaling endoplasmic reticulum|microsome|nucleus|phosphatidylinositol 3-kinase complex|plasma membrane 1-phosphatidylinositol-3-kinase activity|ATP binding|phosphatidylinositol binding|phosphatidylinositol-4-phosphate 3-kinase activity|protein binding breast(3)|central_nervous_system(1)|cervix(2)|endometrium(4)|large_intestine(11)|lung(24)|prostate(3)|skin(2)|stomach(1)|upper_aerodigestive_tract(1) 52 all_cancers(21;0.00347)|all_neural(3;0.0218)|Glioma(3;0.0382)|all_epithelial(62;0.171)|Breast(84;0.179)|Prostate(682;0.227) GBM - Glioblastoma multiforme(2;2.69e-45)|all cancers(3;1.66e-30)|KIRC - Kidney renal clear cell carcinoma(13;0.0584)|Kidney(21;0.0934)|BRCA - Breast invasive adenocarcinoma(75;0.143)|Epithelial(59;0.193) GGCCTTGACGGACTGGACCAC 0.632000 35 11 0 0 0.00185496 0 0 UQCRC2 7385 broad.mit.edu 37 16 21979970 21979970 + Missense_Mutation SNP C A A TCGA-EE-A3AC-06A-11D-A196-08 TCGA-EE-A3AC-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 883d623b-c427-4444-9ee3-66d18648130f f8f00311-8db5-4187-bcb8-5054d9fbdac3 g.chr16:21979970C>A uc002djx.3 + 7 770 c.634C>A c.(634-636)Cat>Aat p.H212N UQCRC2_uc002djz.1_Missense_Mutation_p.H79N NM_003366 NP_003357 P22695 QCR2_HUMAN Homo sapiens ubiquinol-cytochrome c reductase core protein II (UQCRC2), nuclear gene encoding mitochondrial protein, mRNA. 212 aerobic respiration|oxidative phosphorylation|proteolysis|respiratory electron transport chain|transport metalloendopeptidase activity|zinc ion binding breast(1)|cervix(1)|endometrium(2)|large_intestine(5)|lung(4)|prostate(1)|skin(1) 15 GBM - Glioblastoma multiforme(48;0.0264) CGTTCAGAACCATTTCACAAG 0.333000 169 7 0.000274275 0.00125122 0.000274275 1 0 ADAM2 2515 broad.mit.edu 37 8 39618716 39618716 + Missense_Mutation SNP C T T TCGA-EE-A3AC-06A-11D-A196-08 TCGA-EE-A3AC-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 883d623b-c427-4444-9ee3-66d18648130f f8f00311-8db5-4187-bcb8-5054d9fbdac3 g.chr8:39618716C>T uc003xnj.3 - 14 1667 c.1592G>A c.(1591-1593)gGa>gAa p.G531E ADAM2_uc003xnk.3_Missense_Mutation_p.G512E|ADAM2_uc011lck.2_Missense_Mutation_p.G531E|ADAM2_uc003xnl.3_Missense_Mutation_p.G405E NM_001464 NP_001455 Q99965 ADAM2_HUMAN Homo sapiens ADAM metallopeptidase domain 2 (ADAM2), mRNA. 531 Cys-rich. cell adhesion|fusion of sperm to egg plasma membrane|proteolysis integral to plasma membrane integrin binding|metalloendopeptidase activity|zinc ion binding haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(11)|lung(29)|ovary(3)|prostate(1)|skin(5)|urinary_tract(1) 53 all_cancers(7;2.38e-28)|all_epithelial(6;8.85e-21)|all_lung(54;1.24e-07)|Lung NSC(58;1.94e-07)|Hepatocellular(245;0.00745)|Breast(189;0.00908)|Renal(179;0.0183)|Colorectal(162;0.246) LUSC - Lung squamous cell carcinoma(45;0.000149) READ - Rectum adenocarcinoma(644;0.0689)|Kidney(114;0.162) CTGTGTGTATCCTGAATCACT 0.323000 52 38 0 0 0.000680045 0 0 FAM13A 10144 broad.mit.edu 37 4 89688742 89688742 + Missense_Mutation SNP C T T TCGA-EE-A3AC-06A-11D-A196-08 TCGA-EE-A3AC-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 883d623b-c427-4444-9ee3-66d18648130f f8f00311-8db5-4187-bcb8-5054d9fbdac3 g.chr4:89688742C>T uc003hse.1 - 12 1748 c.1540G>A c.(1540-1542)Gga>Aga p.G514R FAM13A_uc003hsb.1_Missense_Mutation_p.G188R|FAM13A_uc003hsd.1_Missense_Mutation_p.G188R|FAM13A_uc003hsc.1_Missense_Mutation_p.G174R|FAM13A_uc011cdq.1_Missense_Mutation_p.G160R|FAM13A_uc003hsf.1_Missense_Mutation_p.G100R|FAM13A_uc003hsg.1_5'UTR|FAM13A_uc010ikr.1_Missense_Mutation_p.G10R NM_014883 NP_055698 O94988 FA13A_HUMAN Homo sapiens family with sequence similarity 13, member A (FAM13A), transcript variant 1, mRNA. 514 regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction cytosol GTPase activator activity NS(1)|breast(2)|central_nervous_system(2)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(11)|liver(1)|lung(22)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(2) 55 TTTTCATTTCCTTTCCTATAA 0.333000 27 10 0 0 0.00136819 0 0 FOXJ3 22887 broad.mit.edu 37 1 42657072 42657072 + Missense_Mutation SNP G A A TCGA-EE-A3AC-06A-11D-A196-08 TCGA-EE-A3AC-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 883d623b-c427-4444-9ee3-66d18648130f f8f00311-8db5-4187-bcb8-5054d9fbdac3 g.chr1:42657072G>A uc001che.3 - 10 1565 c.1253C>T c.(1252-1254)cCc>cTc p.P418L FOXJ3_uc001chf.3_Missense_Mutation_p.P418L|FOXJ3_uc001chh.2_Missense_Mutation_p.P384L|FOXJ3_uc001chg.3_Missense_Mutation_p.P418L NM_001198851 NP_001185780 Q9UPW0 FOXJ3_HUMAN Homo sapiens forkhead box J3 (FOXJ3), transcript variant 3, mRNA. 418 embryo development|organ development|pattern specification process|positive regulation of transcription, DNA-dependent|regulation of sequence-specific DNA binding transcription factor activity|tissue development transcription factor complex DNA bending activity|double-stranded DNA binding|promoter binding|protein domain specific binding|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|specific RNA polymerase II transcription factor activity|specific transcriptional repressor activity|transcription activator activity|transcription factor binding NS(1)|endometrium(3)|kidney(2)|large_intestine(4)|lung(3)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1) 18 Ovarian(52;0.01)|all_hematologic(146;0.0977)|Acute lymphoblastic leukemia(166;0.155) Myeloproliferative disorder(586;0.0333) ATGTGGAGAGGGATGCTGGGG 0.577000 36 25 0 0 0.000720815 0 0 OR2T4 127074 broad.mit.edu 37 1 248525769 248525769 + Missense_Mutation SNP C G G TCGA-EE-A3AC-06A-11D-A196-08 TCGA-EE-A3AC-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 883d623b-c427-4444-9ee3-66d18648130f f8f00311-8db5-4187-bcb8-5054d9fbdac3 g.chr1:248525769C>G uc001ieh.1 + 0 887 c.887C>G c.(886-888)tCc>tGc p.S296C NM_001004696 NP_001004696 Q8NH00 OR2T4_HUMAN Homo sapiens olfactory receptor, family 2, subfamily T, member 4 (OR2T4), mRNA. 296 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity p.S296F(2) 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) CTCCCCAGCTCCTACCACACC 0.517000 55 64 0 0 0.000781405 0 0 HABP2 3026 broad.mit.edu 37 10 115334134 115334134 + Missense_Mutation SNP C T T TCGA-EE-A3AC-06A-11D-A196-08 TCGA-EE-A3AC-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 883d623b-c427-4444-9ee3-66d18648130f f8f00311-8db5-4187-bcb8-5054d9fbdac3 g.chr10:115334134C>T uc001lai.4 + 2 296 c.193C>T c.(193-195)Cct>Tct p.P65S HABP2_uc021pyr.1_Missense_Mutation_p.P39S|HABP2_uc010qrz.1_Non-coding_Transcript|HABP2_uc010qry.1_Silent_p.I53I NM_004132 NP_001171131 Q14520 HABP2_HUMAN Homo sapiens hyaluronan binding protein 2 (HABP2), transcript variant 1, mRNA. 65 cell adhesion|proteolysis extracellular space glycosaminoglycan binding|serine-type endopeptidase activity p.P65T(2) breast(2)|endometrium(1)|kidney(1)|large_intestine(5)|lung(8)|ovary(2)|skin(2)|upper_aerodigestive_tract(2) 23 Colorectal(252;0.0233)|Breast(234;0.0672) Epithelial(162;0.00319)|all cancers(201;0.0112) CGCTGAGAATCCTGACTGGTA 0.507000 35 19 0 0 0.00188189 0 0 SPHKAP 80309 broad.mit.edu 37 2 228882998 228882998 + Missense_Mutation SNP C T T TCGA-EE-A3AC-06A-11D-A196-08 TCGA-EE-A3AC-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 883d623b-c427-4444-9ee3-66d18648130f f8f00311-8db5-4187-bcb8-5054d9fbdac3 g.chr2:228882998C>T uc002vpq.2 - 6 2619 c.2572G>A c.(2572-2574)Gaa>Aaa p.E858K SPHKAP_uc002vpp.2_Missense_Mutation_p.E858K|SPHKAP_uc010zlx.1_Missense_Mutation_p.E858K NM_001142644 NP_001136116 Q2M3C7 SPKAP_HUMAN Homo sapiens SPHK1 interactor, AKAP domain containing (SPHKAP), transcript variant 1, mRNA. 858 cytoplasm protein binding p.E858*(3)|p.S857S(1) NS(5)|breast(5)|central_nervous_system(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(3)|kidney(12)|large_intestine(25)|lung(86)|ovary(6)|pancreas(1)|prostate(6)|skin(17)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1) 185 Renal(207;0.025)|all_hematologic(139;0.15)|all_lung(227;0.204)|Acute lymphoblastic leukemia(138;0.205)|Esophageal squamous(248;0.23) Epithelial(121;8.17e-11)|all cancers(144;7.92e-08)|Lung(261;0.0168)|LUSC - Lung squamous cell carcinoma(224;0.0232) CTTTGTCCTTCGGAAGAGGCT 0.488000 54 33 0 0 0.0024448 0 0 FNTA 2339 broad.mit.edu 37 8 42940407 42940407 + Silent SNP A T T TCGA-EE-A3AC-06A-11D-A196-08 TCGA-EE-A3AC-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 883d623b-c427-4444-9ee3-66d18648130f f8f00311-8db5-4187-bcb8-5054d9fbdac3 g.chr8:42940407A>T uc003xps.3 + 8 1170 c.1122A>T c.(1120-1122)ccA>ccT p.P374P FNTA_uc003xpt.3_Silent_p.P283P|FNTA_uc003xpv.3_Non-coding_Transcript NM_002027 NP_002018 P49354 FNTA_HUMAN Homo sapiens farnesyltransferase, CAAX box, alpha (FNTA), transcript variant 1, mRNA. 374 cellular component disassembly involved in apoptosis|positive regulation of deacetylase activity|positive regulation of tubulin deacetylation|protein farnesylation|protein geranylgeranylation|transforming growth factor beta receptor signaling pathway cytosol|microtubule associated complex CAAX-protein geranylgeranyltransferase activity|alpha-tubulin binding|microtubule binding|protein farnesyltransferase activity cervix(1)|endometrium(2)|large_intestine(1)|liver(1)|lung(8)|ovary(1)|prostate(1)|urinary_tract(1) 16 Prostate(17;0.0119)|Ovarian(28;0.0172)|Lung SC(25;0.184) all_cancers(86;0.000223)|all_epithelial(80;1.61e-07)|all_lung(54;0.00021)|Lung NSC(58;0.000778)|Hepatocellular(245;0.0524)|Renal(179;0.0822)|Esophageal squamous(32;0.129) Lung(22;0.0777)|LUSC - Lung squamous cell carcinoma(45;0.17) ATGACTCACCAACAAATGTAC 0.393000 31 12 0 0 0.000978159 0 0 RELN 5649 broad.mit.edu 37 7 103130325 103130325 + Silent SNP G A A TCGA-EE-A3AC-06A-11D-A196-08 TCGA-EE-A3AC-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 883d623b-c427-4444-9ee3-66d18648130f f8f00311-8db5-4187-bcb8-5054d9fbdac3 g.chr7:103130325G>A uc022ajr.1 - 59 9787 c.9627C>T c.(9625-9627)atC>atT p.I3209I RELN_uc022ajq.1_Silent_p.I3209I|RELN_uc010liz.3_Silent_p.I3209I NM_005045 NP_005036 P78509 RELN_HUMAN Homo sapiens reelin (RELN), transcript variant 1, mRNA. 3209 axon guidance|cell adhesion|cerebral cortex tangential migration|glial cell differentiation|neuron migration|peptidyl-tyrosine phosphorylation|positive regulation of protein kinase activity|positive regulation of small GTPase mediated signal transduction|response to pain|spinal cord patterning cytoplasm|dendrite|extracellular space|proteinaceous extracellular matrix metal ion binding|protein serine/threonine/tyrosine kinase activity|serine-type peptidase activity p.W3208L(1) NS(3)|breast(8)|central_nervous_system(3)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(4)|kidney(6)|large_intestine(43)|lung(101)|ovary(9)|pancreas(2)|prostate(4)|skin(14)|stomach(2)|upper_aerodigestive_tract(12)|urinary_tract(2) 227 COAD - Colon adenocarcinoma(1;8.98e-05)|Colorectal(1;0.00184) CTCCCTTCTGGATCCAGCGGA 0.542000 26 23 0 0 0.000878237 0 0 SUCLA2 8803 broad.mit.edu 37 13 48523624 48523624 + Silent SNP A G G TCGA-EE-A3AC-06A-11D-A196-08 TCGA-EE-A3AC-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 883d623b-c427-4444-9ee3-66d18648130f f8f00311-8db5-4187-bcb8-5054d9fbdac3 g.chr13:48523624A>G uc001vbs.3 - 8 1279 c.1222T>C c.(1222-1224)Tta>Cta p.L408L SUCLA2_uc010tgb.2_Silent_p.L348L|SUCLA2_uc010tgc.2_Silent_p.L274L|SUCLA2_uc010tgd.2_Silent_p.L348L NM_003850 NP_003841 Q9P2R7 SUCB1_HUMAN Homo sapiens succinate-CoA ligase, ADP-forming, beta subunit (SUCLA2), nuclear gene encoding mitochondrial protein, mRNA. 408 succinyl-CoA pathway|tricarboxylic acid cycle mitochondrial matrix ATP binding|metal ion binding|protein binding|succinate-CoA ligase (ADP-forming) activity p.R407W(1) central_nervous_system(1)|cervix(1)|endometrium(1)|large_intestine(5)|lung(3)|skin(4) 15 all_cancers(8;1.13e-24)|all_epithelial(8;1.78e-13)|all_lung(13;2.85e-06)|Breast(56;0.000141)|Lung NSC(96;0.000226)|all_hematologic(8;0.000885)|Prostate(109;0.00132)|Acute lymphoblastic leukemia(8;0.0167)|Myeloproliferative disorder(33;0.039)|Hepatocellular(98;0.0556)|Lung SC(185;0.102)|Glioma(44;0.236) GBM - Glioblastoma multiforme(144;2.1e-06) Succinic acid(DB00139) TCACCTTGTAACCGTACCACA 0.353000 31 14 0 0 0.00074312 0 0 POFUT1 23509 broad.mit.edu 37 20 30822425 30822425 + Silent SNP C T T TCGA-EE-A3AC-06A-11D-A196-08 TCGA-EE-A3AC-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 883d623b-c427-4444-9ee3-66d18648130f f8f00311-8db5-4187-bcb8-5054d9fbdac3 g.chr20:30822425C>T uc002wxp.3 + 6 1177 c.1128C>T c.(1126-1128)ttC>ttT p.F376F POFUT1_uc010ztt.2_Silent_p.F268F|POFUT1_uc010ztu.2_Silent_p.F165F NM_015352 NP_056167 Q9H488 OFUT1_HUMAN Homo sapiens protein O-fucosyltransferase 1 (POFUT1), transcript variant 1, mRNA. 376 Notch signaling pathway|O-glycan processing|fucose metabolic process|regulation of transcription, DNA-dependent endoplasmic reticulum|membrane peptide-O-fucosyltransferase activity breast(1)|endometrium(1)|large_intestine(1)|lung(2)|urinary_tract(1) 6 UCEC - Uterine corpus endometrioid carcinoma (5;0.0241) CTTCTTTCTTCGGCATGGACA 0.607000 129 37 0 0 0.00170553 0 0 CAMTA1 23261 broad.mit.edu 37 1 7700579 7700579 + Silent SNP G A A TCGA-EE-A3AC-06A-11D-A196-08 TCGA-EE-A3AC-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 883d623b-c427-4444-9ee3-66d18648130f f8f00311-8db5-4187-bcb8-5054d9fbdac3 g.chr1:7700579G>A uc001aoi.3 + 6 837 c.630G>A c.(628-630)acG>acA p.T210T NM_015215 NP_056030 Q9Y6Y1 CMTA1_HUMAN Homo sapiens calmodulin binding transcription activator 1 (CAMTA1), transcript variant 1, mRNA. 210 regulation of transcription, DNA-dependent|transcription, DNA-dependent cytoplasm|nucleus calmodulin binding breast(5)|central_nervous_system(4)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(11)|lung(29)|ovary(5)|pancreas(2)|prostate(4)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(3) 85 Ovarian(185;0.0634) all_epithelial(116;8.38e-23)|all_lung(118;5.87e-07)|Lung NSC(185;3.43e-06)|Renal(390;0.000219)|Breast(487;0.000307)|Colorectal(325;0.000615)|Hepatocellular(190;0.0088)|Myeloproliferative disorder(586;0.0303)|Ovarian(437;0.0388) UCEC - Uterine corpus endometrioid carcinoma (279;0.101)|Colorectal(212;1.33e-05)|COAD - Colon adenocarcinoma(227;0.000235)|BRCA - Breast invasive adenocarcinoma(304;0.000864)|Kidney(185;0.00244)|STAD - Stomach adenocarcinoma(132;0.00644)|KIRC - Kidney renal clear cell carcinoma(229;0.0179)|READ - Rectum adenocarcinoma(331;0.133) CGAAATGGACGAAAGAAGAGC 0.637000 T WWTR1 epitheliod hemangioendothelioma 29 30 0 0 0.00209593 0 0 FERD3L 222894 broad.mit.edu 37 7 19184901 19184901 + Missense_Mutation SNP G A A TCGA-EE-A3AC-06A-11D-A196-08 TCGA-EE-A3AC-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 883d623b-c427-4444-9ee3-66d18648130f f8f00311-8db5-4187-bcb8-5054d9fbdac3 g.chr7:19184901G>A uc003suo.1 - 0 144 c.85C>T c.(85-87)Ctc>Ttc p.L29F BC043576_uc003sun.1_Non-coding_Transcript NM_152898 NP_690862 Q96RJ6 FER3L_HUMAN Homo sapiens Fer3-like (Drosophila) (FERD3L), mRNA. 29 negative regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding p.P28T(1) breast(1)|endometrium(4)|large_intestine(8)|lung(16)|ovary(1)|prostate(2)|skin(1)|urinary_tract(2) 35 TCGCAGAGGAGAGGGCGTCTC 0.682000 25 11 0 0 0.00185496 0 0 TAS2R1 50834 broad.mit.edu 37 5 9629337 9629337 + Missense_Mutation SNP G A A TCGA-EE-A3AC-06A-11D-A196-08 TCGA-EE-A3AC-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 883d623b-c427-4444-9ee3-66d18648130f f8f00311-8db5-4187-bcb8-5054d9fbdac3 g.chr5:9629337G>A uc003jem.1 - 0 1127 c.808C>T c.(808-810)Cct>Tct p.P270S NM_019599 NP_062545 Q9NYW7 TA2R1_HUMAN Homo sapiens taste receptor, type 2, member 1 (TAS2R1), mRNA. 270 chemosensory behavior|sensory perception of taste integral to membrane taste receptor activity breast(5)|central_nervous_system(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(19)|ovary(3)|prostate(1)|skin(1)|stomach(1) 39 TGTCCAGAAGGGTATATACCA 0.373000 63 38 0 0 0.000509022 0 0 CSMD2 114784 broad.mit.edu 37 1 34080129 34080129 + Nonsense_Mutation SNP C T T TCGA-EE-A3AC-06A-11D-A196-08 TCGA-EE-A3AC-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 883d623b-c427-4444-9ee3-66d18648130f f8f00311-8db5-4187-bcb8-5054d9fbdac3 g.chr1:34080129C>T uc001bxm.1 - 39 6285 c.6108G>A c.(6106-6108)tgG>tgA p.W2036* CSMD2_uc001bxn.1_Nonsense_Mutation_p.W1996*|CSMD2_uc001bxo.1_Nonsense_Mutation_p.W909* NM_052896 NP_443128 Q7Z408 CSMD2_HUMAN Homo sapiens CUB and Sushi multiple domains 2 (CSMD2), mRNA. 1996 CUB 12. integral to membrane|plasma membrane protein binding NS(5)|breast(5)|central_nervous_system(3)|cervix(2)|endometrium(20)|haematopoietic_and_lymphoid_tissue(4)|kidney(9)|large_intestine(43)|lung(114)|ovary(8)|pancreas(1)|prostate(6)|skin(20)|upper_aerodigestive_tract(5)|urinary_tract(1) 246 Myeloproliferative disorder(586;0.0294)|all_neural(195;0.249) GTGCTATTTTCCAGGAGCAGT 0.567000 10 7 0 0 0.000274275 0 0 CMYA5 202333 broad.mit.edu 37 5 79029566 79029566 + Missense_Mutation SNP C T T TCGA-EE-A3AC-06A-11D-A196-08 TCGA-EE-A3AC-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 883d623b-c427-4444-9ee3-66d18648130f f8f00311-8db5-4187-bcb8-5054d9fbdac3 g.chr5:79029566C>T uc003kgc.3 + 1 5050 c.4978C>T c.(4978-4980)Ccc>Tcc p.P1660S NM_153610 NP_705838 Q8N3K9 CMYA5_HUMAN Homo sapiens cardiomyopathy associated 5 (CMYA5), mRNA. 1660 perinuclear region of cytoplasm NS(2)|breast(4)|central_nervous_system(1)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(4)|kidney(4)|large_intestine(37)|lung(34)|ovary(6)|pancreas(2)|prostate(5)|skin(5)|stomach(11)|upper_aerodigestive_tract(3)|urinary_tract(1) 128 Lung NSC(167;0.00296)|all_lung(232;0.00327)|Ovarian(174;0.0262) OV - Ovarian serous cystadenocarcinoma(54;9.85e-46)|Epithelial(54;3.38e-40)|all cancers(79;3.43e-35) AGCAAAGTCTCCCATAACTGA 0.413000 18 12 0 0 0.00136819 0 0 SLC35C2 51006 broad.mit.edu 37 20 44986401 44986401 + Silent SNP G A A TCGA-EE-A3AC-06A-11D-A196-08 TCGA-EE-A3AC-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 883d623b-c427-4444-9ee3-66d18648130f f8f00311-8db5-4187-bcb8-5054d9fbdac3 g.chr20:44986401G>A uc010zxp.2 - 3 312 c.219C>T c.(217-219)ttC>ttT p.F73F SLC35C2_uc002xro.3_Silent_p.F44F|SLC35C2_uc002xrp.3_Silent_p.F44F|SLC35C2_uc002xrq.3_Silent_p.F44F|SLC35C2_uc002xrr.3_Silent_p.F44F|SLC35C2_uc010zxn.2_Intron|SLC35C2_uc010zxo.2_Intron NM_173179 NP_775271 Q9NQQ7 S35C2_HUMAN Homo sapiens solute carrier family 35, member C2 (SLC35C2), transcript variant 1, mRNA. 44 transport integral to membrane p.F44F(1) cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(4)|ovary(2)|prostate(1) 16 Myeloproliferative disorder(115;0.0122) TGAAGAGGGGGAAATGGAAGC 0.632000 15 46 0 0 0.000781405 0 0 DYSF 8291 broad.mit.edu 37 2 71791229 71791229 + Silent SNP G A A TCGA-EE-A3AC-06A-11D-A196-08 TCGA-EE-A3AC-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 883d623b-c427-4444-9ee3-66d18648130f f8f00311-8db5-4187-bcb8-5054d9fbdac3 g.chr2:71791229G>A uc010fen.3 + 23 2592 c.2451G>A c.(2449-2451)caG>caA p.Q817Q DYSF_uc010fei.3_Silent_p.Q816Q|DYSF_uc010feh.3_Silent_p.Q785Q|DYSF_uc002sig.4_Silent_p.Q785Q|DYSF_uc010yqx.2_Non-coding_Transcript|DYSF_uc010feg.3_Silent_p.Q830Q|DYSF_uc010fee.3_Silent_p.Q799Q|DYSF_uc010fef.3_Silent_p.Q816Q|DYSF_uc002sie.3_Silent_p.Q799Q|DYSF_uc010feo.3_Silent_p.Q831Q|DYSF_uc010fej.3_Silent_p.Q786Q|DYSF_uc010fel.3_Silent_p.Q786Q|DYSF_uc010fem.3_Silent_p.Q800Q|DYSF_uc002sif.3_Silent_p.Q800Q|DYSF_uc010fek.3_Silent_p.Q817Q NM_001130987 NP_001124459 O75923 DYSF_HUMAN Homo sapiens dysferlin, limb girdle muscular dystrophy 2B (autosomal recessive) (DYSF), transcript variant 1, mRNA. 799 cytoplasmic vesicle membrane|integral to membrane|sarcolemma calcium-dependent phospholipid binding autonomic_ganglia(2)|breast(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(22)|lung(57)|ovary(3)|pancreas(1)|prostate(2)|skin(6)|upper_aerodigestive_tract(3)|urinary_tract(2) 111 GGATGCTGCAGGGAGACAAGC 0.632000 28 30 0 0 0.0024448 0 0 SPRR3 6707 broad.mit.edu 37 1 152975906 152975906 + Missense_Mutation SNP G A A TCGA-EE-A3AC-06A-11D-A196-08 TCGA-EE-A3AC-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 883d623b-c427-4444-9ee3-66d18648130f f8f00311-8db5-4187-bcb8-5054d9fbdac3 g.chr1:152975906G>A uc021ozo.1 + 0 410 c.410G>A c.(409-411)gGa>gAa p.G137E SPRR3_uc001fax.4_Missense_Mutation_p.G137E|SPRR3_uc001faz.4_Missense_Mutation_p.G137E|SPRR3_uc001fay.2_Missense_Mutation_p.G129E NM_005416 NP_005407 Q9UBC9 SPRR3_HUMAN Homo sapiens small proline-rich protein 3 (SPRR3), transcript variant 1, mRNA. 137 14 X 8 AA approximate tandem repeats. keratinization|peptide cross-linking|wound healing cytoplasm protein binding|structural molecule activity endometrium(1)|kidney(1)|large_intestine(2)|lung(1)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1) 11 Lung NSC(65;1.49e-28)|Hepatocellular(266;0.0877)|all_hematologic(923;0.127)|Melanoma(130;0.242) LUSC - Lung squamous cell carcinoma(543;0.171) CCTGAGCAAGGATACACCAAA 0.537000 14 11 0 0 0.000673444 0 0 ZNF275 10838 broad.mit.edu 37 X 152612510 152612510 + Missense_Mutation SNP C T T TCGA-EE-A3AC-06A-11D-A196-08 TCGA-EE-A3AC-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 883d623b-c427-4444-9ee3-66d18648130f f8f00311-8db5-4187-bcb8-5054d9fbdac3 g.chrX:152612510C>T uc011myn.2 + 1 1080 c.178C>T c.(178-180)Cac>Tac p.H60Y ZNF275_uc004fhg.2_Missense_Mutation_p.H123Y|ZNF275_uc022cht.1_Missense_Mutation_p.H60Y|ZNF275_uc022chu.1_5'Flank NM_001080485 NP_001073954 A6NFS0 A6NFS0_HUMAN Homo sapiens zinc finger protein 275 (ZNF275), mRNA. 123 intracellular nucleic acid binding|zinc ion binding p.L59I(1) endometrium(5)|large_intestine(4)|lung(4)|ovary(1)|prostate(1)|urinary_tract(1) 16 all_hematologic(71;4.25e-06)|Acute lymphoblastic leukemia(192;6.56e-05) CCAGAGAGTCCACAGTGAGGA 0.547000 2 10 0 0 0.000978159 0 0 CHRM4 1132 broad.mit.edu 37 11 46407402 46407402 + Missense_Mutation SNP C T T TCGA-EE-A3AC-06A-11D-A196-08 TCGA-EE-A3AC-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 883d623b-c427-4444-9ee3-66d18648130f f8f00311-8db5-4187-bcb8-5054d9fbdac3 g.chr11:46407402C>T uc001nct.1 - 0 706 c.706G>A c.(706-708)Gag>Aag p.E236K NM_000741 NP_000732 P08173 ACM4_HUMAN Homo sapiens cholinergic receptor, muscarinic 4 (CHRM4), mRNA. 236 cell proliferation cell junction|integral to plasma membrane|postsynaptic membrane muscarinic acetylcholine receptor activity breast(1)|endometrium(7)|kidney(1)|large_intestine(1)|lung(6)|prostate(3)|skin(1) 20 GBM - Glioblastoma multiforme(35;0.0254)|Lung(87;0.14) Atropine(DB00572)|Benzquinamide(DB00767)|Cryptenamine(DB00785)|Homatropine Methylbromide(DB00725)|Methotrimeprazine(DB01403)|Metixene(DB00340)|Olanzapine(DB00334)|Procyclidine(DB00387)|Promazine(DB00420)|Promethazine(DB01069)|Propiomazine(DB00777)|Thiethylperazine(DB00372)|Tropicamide(DB00809) GCTTTCTTCTCCTTCGGGCCC 0.637000 6 8 0 0 0.000157383 0 0 CEP290 80184 broad.mit.edu 37 12 88483138 88483138 + Missense_Mutation SNP A T T TCGA-EE-A3AC-06A-11D-A196-08 TCGA-EE-A3AC-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 883d623b-c427-4444-9ee3-66d18648130f f8f00311-8db5-4187-bcb8-5054d9fbdac3 g.chr12:88483138A>T uc001tar.3 - 30 4044 c.3700T>A c.(3700-3702)Tac>Aac p.Y1234N CEP290_uc001taq.3_Missense_Mutation_p.Y294N NM_025114 NP_079390 O15078 CE290_HUMAN Homo sapiens centrosomal protein 290kDa (CEP290), mRNA. 1234 G2/M transition of mitotic cell cycle|cilium assembly|eye photoreceptor cell development|hindbrain development|otic vesicle formation|positive regulation of transcription, DNA-dependent|pronephros development|protein transport cell surface|centrosome|cytosol|nucleus|photoreceptor connecting cilium protein binding breast(4)|central_nervous_system(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(20)|liver(1)|lung(18)|ovary(5)|pancreas(1)|prostate(2)|stomach(1)|upper_aerodigestive_tract(1) 73 CGCAAGTTGTAGGCCTCCATC 0.433000 32 20 0 0 0.00188189 0 0 VPS13D 55187 broad.mit.edu 37 1 12409243 12409243 + Silent SNP C T T TCGA-EE-A3AC-06A-11D-A196-08 TCGA-EE-A3AC-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 883d623b-c427-4444-9ee3-66d18648130f f8f00311-8db5-4187-bcb8-5054d9fbdac3 g.chr1:12409243C>T uc001atv.3 + 45 9384 c.9243C>T c.(9241-9243)atC>atT p.I3081I VPS13D_uc001atw.3_Silent_p.I3056I|VPS13D_uc001atx.3_Silent_p.I2268I NM_015378 NP_056193 Q5THJ4 VP13D_HUMAN Homo sapiens vacuolar protein sorting 13 homolog D (S. cerevisiae) (VPS13D), transcript variant 1, mRNA. 3080 protein localization NS(1)|breast(6)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(13)|large_intestine(28)|lung(44)|ovary(5)|pancreas(1)|prostate(8)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(4) 130 Ovarian(185;0.249) Lung NSC(185;4.08e-05)|all_lung(284;4.55e-05)|Renal(390;0.000147)|Colorectal(325;0.00058)|Breast(348;0.00093)|Ovarian(437;0.00965)|Hepatocellular(190;0.0202)|Myeloproliferative disorder(586;0.0255) UCEC - Uterine corpus endometrioid carcinoma (279;0.0327)|Colorectal(212;4.63e-06)|BRCA - Breast invasive adenocarcinoma(304;0.000289)|COAD - Colon adenocarcinoma(227;0.000801)|Kidney(185;0.00216)|KIRC - Kidney renal clear cell carcinoma(229;0.00544)|STAD - Stomach adenocarcinoma(313;0.012)|READ - Rectum adenocarcinoma(331;0.0476)|Lung(427;0.209) TTCCTGCTATCATGCCAGGGG 0.507000 66 31 0 0 0.000692331 0 0 C3orf62 375341 broad.mit.edu 37 3 49314045 49314045 + Silent SNP C T T TCGA-EE-A3AC-06A-11D-A196-08 TCGA-EE-A3AC-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 883d623b-c427-4444-9ee3-66d18648130f f8f00311-8db5-4187-bcb8-5054d9fbdac3 g.chr3:49314045C>T uc003cwn.2 - 0 464 c.261G>A c.(259-261)gaG>gaA p.E87E C3orf62_uc003cwm.2_5'Flank NM_198562 NP_940964 Q6ZUJ4 CC062_HUMAN Homo sapiens chromosome 3 open reading frame 62 (C3orf62), mRNA. 87 p.E87E(2) breast(1)|kidney(1)|large_intestine(1)|lung(3) 6 BRCA - Breast invasive adenocarcinoma(193;8.01e-05)|Kidney(197;0.00218)|KIRC - Kidney renal clear cell carcinoma(197;0.00244) GGTTCTCATTCTCAGGAGCAC 0.532000 43 38 0 0 0.000953801 0 0 EPB41L1 2036 broad.mit.edu 37 20 34778246 34778246 + Silent SNP G A A TCGA-EE-A3AC-06A-11D-A196-08 TCGA-EE-A3AC-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 883d623b-c427-4444-9ee3-66d18648130f f8f00311-8db5-4187-bcb8-5054d9fbdac3 g.chr20:34778246G>A uc002xfb.3 + 9 1245 c.1074G>A c.(1072-1074)cgG>cgA p.R358R EPB41L1_uc002xeu.3_Silent_p.R296R|EPB41L1_uc010zvo.1_Silent_p.R358R|EPB41L1_uc002xev.3_Silent_p.R358R|EPB41L1_uc002xew.3_Silent_p.R261R|EPB41L1_uc002xex.3_Silent_p.R327R|EPB41L1_uc002xey.3_Silent_p.R285R|EPB41L1_uc002xez.3_Silent_p.R296R NM_012156 NP_036288 Q9H4G0 E41L1_HUMAN Homo sapiens erythrocyte membrane protein band 4.1-like 1 (EPB41L1), transcript variant 1, mRNA. 358 FERM. cortical actin cytoskeleton organization|synaptic transmission cytoskeleton|cytosol|extrinsic to membrane|plasma membrane actin binding|structural molecule activity breast(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|lung(10)|ovary(2)|pancreas(1)|upper_aerodigestive_tract(1)|urinary_tract(3) 37 Breast(12;0.0239) CAAACCACCGGTCAGCCAAGA 0.537000 29 45 0 0 0.000781405 0 0 STRN4 29888 broad.mit.edu 37 19 47232010 47232010 + Missense_Mutation SNP C T T TCGA-EE-A3AC-06A-11D-A196-08 TCGA-EE-A3AC-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 883d623b-c427-4444-9ee3-66d18648130f f8f00311-8db5-4187-bcb8-5054d9fbdac3 g.chr19:47232010C>T uc002pfm.3 - 6 937 c.904G>A c.(904-906)Gaa>Aaa p.E302K STRN4_uc002pfl.3_Missense_Mutation_p.E302K|STRN4_uc010xyf.2_Non-coding_Transcript|STRN4_uc010xyg.1_Non-coding_Transcript NM_001039877 NP_001034966 Q9NRL3 STRN4_HUMAN Homo sapiens striatin, calmodulin binding protein 4 (STRN4), transcript variant 2, mRNA. 302 cytoplasm|membrane armadillo repeat domain binding|calmodulin binding|protein complex binding|protein phosphatase 2A binding NS(1)|endometrium(3)|kidney(2)|large_intestine(4)|lung(4)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 17 Ovarian(192;0.0129)|all_neural(266;0.0459)|Breast(70;0.212) OV - Ovarian serous cystadenocarcinoma(262;0.000563)|all cancers(93;0.00138)|Epithelial(262;0.0217)|GBM - Glioblastoma multiforme(486;0.035) TCTTCCATTTCGGGCACCAGA 0.567000 67 39 0 0 0.000781405 0 0 PCLO 27445 broad.mit.edu 37 7 82545358 82545358 + Missense_Mutation SNP G A A TCGA-EE-A3AC-06A-11D-A196-08 TCGA-EE-A3AC-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 883d623b-c427-4444-9ee3-66d18648130f f8f00311-8db5-4187-bcb8-5054d9fbdac3 g.chr7:82545358G>A uc003uhx.2 - 6 12233 c.11944C>T c.(11944-11946)Cgc>Tgc p.R3982C PCLO_uc003uhv.2_Missense_Mutation_p.R3982C|PCLO_uc010lec.3_Missense_Mutation_p.R947C NM_033026 NP_149015 Q9Y6V0 PCLO_HUMAN Homo sapiens piccolo (presynaptic cytomatrix protein) (PCLO), transcript variant 1, mRNA. 3913 cytoskeleton organization|synaptic vesicle exocytosis cell junction|cytoskeleton|synaptic vesicle calcium ion binding|calcium-dependent phospholipid binding|profilin binding|transporter activity p.R3982C(3) breast(3)|central_nervous_system(3)|cervix(5)|endometrium(19)|haematopoietic_and_lymphoid_tissue(3)|kidney(19)|large_intestine(35)|lung(145)|ovary(7)|prostate(4)|upper_aerodigestive_tract(14)|urinary_tract(2) 259 GGTTGGTTGCGAATCACTTCA 0.388000 78 62 0 0 0.000781405 0 0 abParts 0 broad.mit.edu 37 14 107218762 107218762 + RNA SNP T A A TCGA-EE-A3AC-06A-11D-A196-08 TCGA-EE-A3AC-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 883d623b-c427-4444-9ee3-66d18648130f f8f00311-8db5-4187-bcb8-5054d9fbdac3 g.chr14:107218762T>A uc021ser.1 - 12 c.1001A>T Parts of antibodies, mostly variable regions. TCTCTGGAGATGGTGAATCGG 0.552000 115 61 0 0 0.000781405 0 0 OR4X2 119764 broad.mit.edu 37 11 48267210 48267210 + Silent SNP C T T TCGA-EE-A3AC-06A-11D-A196-08 TCGA-EE-A3AC-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 883d623b-c427-4444-9ee3-66d18648130f f8f00311-8db5-4187-bcb8-5054d9fbdac3 g.chr11:48267210C>T uc001ngs.1 + 0 555 c.555C>T c.(553-555)ttC>ttT p.F185F NM_001004727 NP_001004727 Q8NGF9 OR4X2_HUMAN Homo sapiens olfactory receptor, family 4, subfamily X, member 2 (OR4X2), mRNA. 185 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity breast(1)|large_intestine(4)|lung(12)|pancreas(1)|stomach(1)|upper_aerodigestive_tract(1) 20 CTGACACCTTCCTCATTGGTC 0.483000 77 49 0 0 0.000781405 0 0 CTR9 9646 broad.mit.edu 37 11 10772987 10772987 + Missense_Mutation SNP C T T TCGA-EE-A3AC-06A-11D-A196-08 TCGA-EE-A3AC-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 883d623b-c427-4444-9ee3-66d18648130f f8f00311-8db5-4187-bcb8-5054d9fbdac3 g.chr11:10772987C>T uc001mja.3 + 0 177 c.28C>T c.(28-30)Ctc>Ttc p.L10F NM_014633 NP_055448 Q6PD62 CTR9_HUMAN Homo sapiens Ctr9, Paf1/RNA polymerase II complex component, homolog (S. cerevisiae) (CTR9), mRNA. 10 histone H2B ubiquitination|histone monoubiquitination Cdc73/Paf1 complex|nuclear speck breast(4)|central_nervous_system(2)|cervix(1)|endometrium(7)|kidney(3)|large_intestine(7)|lung(12)|ovary(2)|pancreas(1)|stomach(1) 40 all cancers(16;1.64e-07)|Epithelial(150;2.47e-07)|BRCA - Breast invasive adenocarcinoma(625;0.111) CGAGATTCCCCTCCGGGACAC 0.617000 18 9 0 0 0.000442599 0 0 CFHR1 3078 broad.mit.edu 37 1 196801090 196801090 + Nonsense_Mutation SNP G A A TCGA-EE-A3AC-06A-11D-A196-08 TCGA-EE-A3AC-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 883d623b-c427-4444-9ee3-66d18648130f f8f00311-8db5-4187-bcb8-5054d9fbdac3 g.chr1:196801090G>A uc001gtn.3 + 5 1068 c.954G>A c.(952-954)tgG>tgA p.W318* CFH_uc021pgt.1_Intron|CFHR1_uc001gtm.3_Nonsense_Mutation_p.W222* NM_002113 NP_002104 Q03591 FHR1_HUMAN Homo sapiens complement factor H-related 1 (CFHR1), mRNA. 318 Sushi 5. complement activation extracellular space NS(1)|kidney(1)|large_intestine(2)|lung(7) 11 CAACATGTTGGGATGGGAAAC 0.358000 74 29 0 0 0.000491102 0 0 MUC17 140453 broad.mit.edu 37 7 100691326 100691326 + Silent SNP G A A TCGA-EE-A3AC-06A-11D-A196-08 TCGA-EE-A3AC-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 883d623b-c427-4444-9ee3-66d18648130f f8f00311-8db5-4187-bcb8-5054d9fbdac3 g.chr7:100691326G>A uc003uxp.1 + 3 12518 c.12465G>A c.(12463-12465)ggG>ggA p.G4155G MUC17_uc010lho.1_Non-coding_Transcript NM_001040105 NP_001035194 Q685J3 MUC17_HUMAN Homo sapiens mucin 17, cell surface associated (MUC17), mRNA. 4155 EGF-like. extracellular region|integral to membrane|plasma membrane extracellular matrix constituent, lubricant activity NS(3)|breast(14)|central_nervous_system(2)|cervix(2)|endometrium(27)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(28)|lung(179)|ovary(19)|pancreas(1)|prostate(13)|skin(26)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(4) 343 Lung NSC(181;0.136)|all_lung(186;0.182) CCTGGGATGGGCTCAAGTGCC 0.547000 36 26 0 0 0.00127121 0 0 SLC29A4 222962 broad.mit.edu 37 7 5340081 5340081 + Missense_Mutation SNP G T T TCGA-EE-A3AC-06A-11D-A196-08 TCGA-EE-A3AC-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 883d623b-c427-4444-9ee3-66d18648130f f8f00311-8db5-4187-bcb8-5054d9fbdac3 g.chr7:5340081G>T uc003sod.3 + 9 1399 c.1238G>T c.(1237-1239)cGg>cTg p.R413L SLC29A4_uc003soc.3_Missense_Mutation_p.R413L|SLC29A4_uc003soe.3_Missense_Mutation_p.R399L NM_153247 NP_694979 Q7RTT9 S29A4_HUMAN Homo sapiens solute carrier family 29 (nucleoside transporters), member 4 (SLC29A4), transcript variant 2, mRNA. 413 nucleobase, nucleoside and nucleotide metabolic process apical plasma membrane|integral to membrane nucleoside transmembrane transporter activity breast(1)|cervix(2)|kidney(7)|large_intestine(1)|liver(1)|lung(7)|urinary_tract(1) 20 Ovarian(82;0.0175) UCEC - Uterine corpus endometrioid carcinoma (126;0.0903)|OV - Ovarian serous cystadenocarcinoma(56;2.65e-15) GTGGACTGGCGGGGCACCCAC 0.706000 63 5 0.000602214 0.00273746 0.000602214 1 0 SON 6651 broad.mit.edu 37 21 34925573 34925573 + Missense_Mutation SNP C T T TCGA-EE-A3AC-06A-11D-A196-08 TCGA-EE-A3AC-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 883d623b-c427-4444-9ee3-66d18648130f f8f00311-8db5-4187-bcb8-5054d9fbdac3 g.chr21:34925573C>T uc002yse.1 + 2 4085 c.4036C>T c.(4036-4038)Ccg>Tcg p.P1346S SON_uc002ysb.1_Missense_Mutation_p.P1346S|SON_uc002ysc.3_Missense_Mutation_p.P1346S|SON_uc002ysd.3_Missense_Mutation_p.P337S|SON_uc002ysf.1_Intron|SON_uc021win.1_Missense_Mutation_p.P992S|SON_uc002ysg.3_Missense_Mutation_p.P337S NM_138927 NP_620305 P18583 SON_HUMAN Homo sapiens SON DNA binding protein (SON), transcript variant f, mRNA. 1346 RNA splicing|anti-apoptosis|cytokinesis|mRNA processing|regulation of RNA splicing|regulation of cell cycle|spindle pole body separation nuclear speck DNA binding|double-stranded RNA binding breast(3)|central_nervous_system(2)|cervix(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(13)|lung(25)|ovary(4)|prostate(2)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(1) 72 CATTCTGGAGCCGCCAGCCAT 0.547000 20 24 0 0 0.000878237 0 0 COL22A1 169044 broad.mit.edu 37 8 139642954 139642954 + Missense_Mutation SNP C T T TCGA-EE-A3AC-06A-11D-A196-08 TCGA-EE-A3AC-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 883d623b-c427-4444-9ee3-66d18648130f f8f00311-8db5-4187-bcb8-5054d9fbdac3 g.chr8:139642954C>T uc003yvd.3 - 49 4094 c.3647G>A c.(3646-3648)gGa>gAa p.G1216E COL22A1_uc011ljo.2_Missense_Mutation_p.G496E NM_152888 NP_690848 Q8NFW1 COMA1_HUMAN Homo sapiens collagen, type XXII, alpha 1 (COL22A1), mRNA. 1216 Gly-rich.|Pro-rich. cell adhesion collagen|cytoplasm structural molecule activity p.P1215Q(1) 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) CCCTTGGATTCCTGGTGGTCC 0.473000 HNSCC(7;0.00092) 49 27 0 0 0.001512 0 0 COPS8 10920 broad.mit.edu 37 2 237994633 237994633 + Missense_Mutation SNP G A A TCGA-EE-A3AC-06A-11D-A196-08 TCGA-EE-A3AC-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 883d623b-c427-4444-9ee3-66d18648130f f8f00311-8db5-4187-bcb8-5054d9fbdac3 g.chr2:237994633G>A uc002vwh.3 + 0 550 c.26G>A c.(25-27)aGc>aAc p.S9N AK056246_uc002vwf.1_5'Flank|COPS8_uc010fys.1_Non-coding_Transcript|COPS8_uc002vwg.3_5'UTR NM_006710 NP_937832 Q99627 CSN8_HUMAN Homo sapiens COP9 constitutive photomorphogenic homolog subunit 8 (Arabidopsis) (COPS8), transcript variant 1, mRNA. 9 cullin deneddylation cytoplasm|signalosome large_intestine(1)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1) 4 Breast(86;0.000162)|Renal(207;0.00339)|all_hematologic(139;0.0123)|Ovarian(221;0.0694)|Acute lymphoblastic leukemia(138;0.0775)|all_lung(227;0.169)|all_neural(83;0.211) Epithelial(121;7.41e-23)|OV - Ovarian serous cystadenocarcinoma(60;5.42e-11)|Kidney(56;3.04e-09)|KIRC - Kidney renal clear cell carcinoma(57;5.98e-08)|BRCA - Breast invasive adenocarcinoma(100;0.000175)|Lung(119;0.011)|LUSC - Lung squamous cell carcinoma(224;0.0258) ATGGCGGAAAGCGCCTTTAGT 0.627000 9 8 0 0 0.000274275 0 0 DLC1 10395 broad.mit.edu 37 8 12957202 12957202 + Missense_Mutation SNP C T T TCGA-EE-A3AC-06A-11D-A196-08 TCGA-EE-A3AC-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 883d623b-c427-4444-9ee3-66d18648130f f8f00311-8db5-4187-bcb8-5054d9fbdac3 g.chr8:12957202C>T uc003wwm.2 - 8 3088 c.2644G>A c.(2644-2646)Gtg>Atg p.V882M DLC1_uc003wwk.1_Missense_Mutation_p.V445M|DLC1_uc003wwl.1_Missense_Mutation_p.V479M|DLC1_uc011kxx.1_Missense_Mutation_p.V371M NM_182643 NP_872584 Q96QB1 RHG07_HUMAN Homo sapiens deleted in liver cancer 1 (DLC1), transcript variant 1, mRNA. 882 actin cytoskeleton organization|activation of caspase activity|focal adhesion assembly|forebrain development|heart morphogenesis|hindbrain morphogenesis|induction of apoptosis|negative regulation of Rho protein signal transduction|negative regulation of cell migration|negative regulation of cell proliferation|negative regulation of stress fiber assembly|neural tube closure|positive regulation of protein dephosphorylation|regulation of cell shape|small GTPase mediated signal transduction caveola|cytosol|focal adhesion|nucleus Rho GTPase activator activity|SH2 domain binding p.V882V(1) NS(2)|breast(2)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(39)|lung(32)|ovary(4)|pancreas(2)|prostate(4)|skin(2)|stomach(2)|upper_aerodigestive_tract(5)|urinary_tract(1) 110 GAGCCCGGCACGTTGTCGTAG 0.582000 5 8 0 0 0.000274275 0 0 ZFP1 162239 broad.mit.edu 37 16 75203807 75203807 + Missense_Mutation SNP C T T TCGA-EE-A3AC-06A-11D-A196-08 TCGA-EE-A3AC-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 883d623b-c427-4444-9ee3-66d18648130f f8f00311-8db5-4187-bcb8-5054d9fbdac3 g.chr16:75203807C>T uc002fdq.3 + 3 923 c.799C>T c.(799-801)Ccc>Tcc p.P267S ZFP1_uc010cgt.3_Missense_Mutation_p.P234S|ZFP1_uc002fdo.3_Missense_Mutation_p.P267S|ZFP1_uc002fdp.3_Missense_Mutation_p.P212S|ZFP1_uc010cgs.3_Missense_Mutation_p.P212S NM_153688 NP_710155 Q6P2D0 ZFP1_HUMAN Homo sapiens zinc finger protein 1 homolog (mouse) (ZFP1), mRNA. 267 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding endometrium(2)|large_intestine(4)|lung(2)|ovary(1)|skin(2)|upper_aerodigestive_tract(1) 12 GGAGAAGAAGCCCTATGAGTG 0.468000 16 19 0 0 0.00152264 0 0 REV1 51455 broad.mit.edu 37 2 100038043 100038043 + Silent SNP G A A TCGA-EE-A3AC-06A-11D-A196-08 TCGA-EE-A3AC-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 883d623b-c427-4444-9ee3-66d18648130f f8f00311-8db5-4187-bcb8-5054d9fbdac3 g.chr2:100038043G>A uc002tad.3 - 10 1961 c.1749C>T c.(1747-1749)acC>acT p.T583T REV1_uc002tac.3_Silent_p.T582T NM_016316 NP_057400 Q9UBZ9 REV1_HUMAN Homo sapiens REV1 homolog (S. cerevisiae) (REV1), transcript variant 1, mRNA. 583 UmuC. DNA replication|error-prone translesion synthesis|response to UV nucleoplasm DNA-directed DNA polymerase activity|damaged DNA binding|magnesium ion binding|protein binding NS(1)|breast(1)|endometrium(2)|kidney(1)|large_intestine(14)|lung(12)|ovary(2)|prostate(4)|upper_aerodigestive_tract(1)|urinary_tract(1) 39 GAGTAAGTTTGGTCTCTGCAA 0.418000 Direct reversal of damage 70 46 0 0 0.000589545 0 0 LAMC2 3918 broad.mit.edu 37 1 183177078 183177078 + Missense_Mutation SNP G T T TCGA-EE-A3AC-06A-11D-A196-08 TCGA-EE-A3AC-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 883d623b-c427-4444-9ee3-66d18648130f f8f00311-8db5-4187-bcb8-5054d9fbdac3 g.chr1:183177078G>T uc001gqa.2 + 1 456 c.142G>T c.(142-144)Ggt>Tgt p.G48C LAMC2_uc001gpz.4_Missense_Mutation_p.G48C|LAMC2_uc010poa.2_5'UTR NM_005562 NP_005553 Q13753 LAMC2_HUMAN Homo sapiens laminin, gamma 2 (LAMC2), transcript variant 1, mRNA. 48 Laminin EGF-like 1. cell adhesion|epidermis development|hemidesmosome assembly heparin binding breast(2)|endometrium(6)|kidney(8)|large_intestine(11)|lung(18)|ovary(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2) 55 CAGACAAACTGGTAATGGATT 0.473000 277 11 0.000978159 0.00443687 0.000978159 1 0 TMEM119 338773 broad.mit.edu 37 12 108985639 108985639 + Missense_Mutation SNP G A A TCGA-EE-A3AC-06A-11D-A196-08 TCGA-EE-A3AC-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 883d623b-c427-4444-9ee3-66d18648130f f8f00311-8db5-4187-bcb8-5054d9fbdac3 g.chr12:108985639G>A uc001tng.3 - 1 684 c.521C>T c.(520-522)gCc>gTc p.A174V TMEM119_uc021rdl.1_Missense_Mutation_p.A174V NM_181724 NP_859075 Q4V9L6 TM119_HUMAN Homo sapiens transmembrane protein 119 (TMEM119), mRNA. 174 integral to membrane large_intestine(2)|lung(3)|ovary(1)|skin(1) 7 CAAGATGTCGGCCTGGAGCTG 0.716000 30 21 0 0 0.00106085 0 0 TRIM49 57093 broad.mit.edu 37 11 89531642 89531642 + Missense_Mutation SNP C T T TCGA-EE-A3AC-06A-11D-A196-08 TCGA-EE-A3AC-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 883d623b-c427-4444-9ee3-66d18648130f f8f00311-8db5-4187-bcb8-5054d9fbdac3 g.chr11:89531642C>T uc001pdb.3 - 7 1344 c.1015G>A c.(1015-1017)Ggc>Agc p.G339S NM_020358 NP_065091 P0CI25 TRI49_HUMAN Homo sapiens tripartite motif containing 49 (TRIM49), mRNA. 339 B30.2/SPRY. intracellular zinc ion binding breast(2)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|liver(1)|lung(14)|prostate(1)|skin(2)|stomach(1) 27 Acute lymphoblastic leukemia(157;2.31e-05)|all_hematologic(158;0.00556) TAATATTTGCCCGAGGTGAAA 0.428000 34 17 0 0 0.000878237 0 0 STMN2 11075 broad.mit.edu 37 8 80567234 80567234 + Missense_Mutation SNP G A A TCGA-EE-A3AC-06A-11D-A196-08 TCGA-EE-A3AC-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 883d623b-c427-4444-9ee3-66d18648130f f8f00311-8db5-4187-bcb8-5054d9fbdac3 g.chr8:80567234G>A uc022awk.1 + 3 799 c.417G>A c.(415-417)atG>atA p.M139I STMN2_uc003ybj.3_Missense_Mutation_p.M139I|STMN2_uc010lzp.3_Non-coding_Transcript NM_001199214 NP_001186143 Q93045 STMN2_HUMAN Homo sapiens stathmin-like 2 (STMN2), transcript variant 1, mRNA. 139 intracellular signal transduction|negative regulation of microtubule depolymerization|negative regulation of microtubule polymerization|negative regulation of neuron projection development|neuron differentiation|positive regulation of microtubule depolymerization|positive regulation of neuron projection development axon|growth cone|membrane|membrane fraction|perinuclear region of cytoplasm|soluble fraction protein binding central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(4)|ovary(1)|skin(1) 11 all_lung(9;8.34e-05) Epithelial(68;0.0229)|all cancers(69;0.0874) TCCTGAAAATGGAACAAATTA 0.453000 6 17 0 0 0.000422831 0 0 KRT36 8689 broad.mit.edu 37 17 39643315 39643315 + Silent SNP G A A TCGA-EE-A3AC-06A-11D-A196-08 TCGA-EE-A3AC-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 883d623b-c427-4444-9ee3-66d18648130f f8f00311-8db5-4187-bcb8-5054d9fbdac3 g.chr17:39643315G>A uc002hwt.3 - 5 1095 c.1095C>T c.(1093-1095)atC>atT p.I365I NM_003771 NP_003762 O76013 KRT36_HUMAN Homo sapiens keratin 36 (KRT36), mRNA. 365 Coil 2.|Rod. intermediate filament protein binding|structural constituent of epidermis breast(2)|cervix(1)|kidney(2)|large_intestine(3)|lung(8)|skin(1) 17 Breast(137;0.000286) GGTCGCAGCGGATCTCAGACA 0.647000 53 49 0 0 0.000781405 0 0 KCNK18 338567 broad.mit.edu 37 10 118969168 118969168 + Silent SNP C T T TCGA-EE-A3AC-06A-11D-A196-08 TCGA-EE-A3AC-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 883d623b-c427-4444-9ee3-66d18648130f f8f00311-8db5-4187-bcb8-5054d9fbdac3 g.chr10:118969168C>T uc010qsr.2 + 2 513 c.513C>T c.(511-513)ttC>ttT p.F171F NM_181840 NP_862823 Q7Z418 KCNKI_HUMAN Homo sapiens potassium channel, subfamily K, member 18 (KCNK18), mRNA. 171 integral to membrane|plasma membrane breast(1)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(7)|lung(24)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2) 41 Colorectal(252;0.19) all cancers(201;0.0211) AATTCCCTTTCTTTACCCGCC 0.502000 57 36 0 0 0.00058488 0 0 COL4A5 1287 broad.mit.edu 37 X 107935983 107935983 + Missense_Mutation SNP G A A TCGA-EE-A3AC-06A-11D-A196-08 TCGA-EE-A3AC-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 883d623b-c427-4444-9ee3-66d18648130f f8f00311-8db5-4187-bcb8-5054d9fbdac3 g.chrX:107935983G>A uc022ccg.1 + 49 4736 c.4534G>A c.(4534-4536)Gct>Act p.A1512T COL4A5_uc004enz.1_Missense_Mutation_p.A1506T NM_033380 NP_203699 P29400 CO4A5_HUMAN Homo sapiens collagen, type IV, alpha 5 (COL4A5), transcript variant 2, mRNA. 1506 Collagen IV NC1. axon guidance collagen type IV extracellular matrix structural constituent|protein binding p.R1512H(1) NS(1)|breast(2)|central_nervous_system(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(25)|lung(32)|ovary(4)|prostate(2)|skin(8)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1) 99 TCTAGGGACGGCTGGCAGCTG 0.398000 Alport syndrome with Diffuse Leiomyomatosis 8 25 0 0 0.000491102 0 0 LAMA3 3909 broad.mit.edu 37 18 21441765 21441765 + Silent SNP G A A TCGA-EE-A3AC-06A-11D-A196-08 TCGA-EE-A3AC-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 883d623b-c427-4444-9ee3-66d18648130f f8f00311-8db5-4187-bcb8-5054d9fbdac3 g.chr18:21441765G>A uc002kuq.3 + 34 4664 c.4578G>A c.(4576-4578)ggG>ggA p.G1526G LAMA3_uc002kur.3_Silent_p.G1526G NM_198129 NP_937762 Q16787 LAMA3_HUMAN Homo sapiens laminin, alpha 3 (LAMA3), transcript variant 1, mRNA. 1526 Laminin IV type A. cell adhesion|epidermis development|hemidesmosome assembly|regulation of cell adhesion|regulation of cell migration|regulation of embryonic development laminin-1 complex receptor binding|structural molecule activity NS(2)|breast(4)|central_nervous_system(3)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(24)|lung(54)|ovary(8)|prostate(6)|skin(7)|urinary_tract(4) 128 all_cancers(21;7.81e-05)|all_epithelial(16;4.45e-07)|Lung NSC(20;0.00156)|all_lung(20;0.00508)|Colorectal(14;0.0202)|Ovarian(20;0.17) Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Tenecteplase(DB00031) CCTACCTGGGGGACAAGGTAA 0.572000 7 4 0 0 0.00024832 0 0 ZNF750 79755 broad.mit.edu 37 17 80790094 80790094 + Silent SNP G T T rs34808874 byFrequency TCGA-EE-A3AC-06A-11D-A196-08 TCGA-EE-A3AC-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 883d623b-c427-4444-9ee3-66d18648130f f8f00311-8db5-4187-bcb8-5054d9fbdac3 g.chr17:80790094G>T uc002kga.3 - 1 548 c.237C>A c.(235-237)ccC>ccA p.P79P TBCD_uc002kfx.1_Intron|TBCD_uc002kfy.1_Intron|TBCD_uc002kfz.3_Intron NM_024702 NP_078978 Q32MQ0 ZN750_HUMAN Homo sapiens zinc finger protein 750 (ZNF750), mRNA. 79 intracellular zinc ion binding NS(3)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(4)|large_intestine(4)|lung(12)|prostate(1)|skin(1)|upper_aerodigestive_tract(2) 31 Breast(20;0.000523)|all_neural(118;0.0779) all_cancers(8;0.0514)|all_epithelial(8;0.0748) OV - Ovarian serous cystadenocarcinoma(97;0.0868)|BRCA - Breast invasive adenocarcinoma(99;0.149) CCGTGGCATCGGGCTGGTTGG 0.507000 99 7 0.00198382 0.00892858 0.00198382 1 0 RBP3 5949 broad.mit.edu 37 10 48389177 48389177 + Silent SNP C T T TCGA-EE-A3AC-06A-11D-A196-08 TCGA-EE-A3AC-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 883d623b-c427-4444-9ee3-66d18648130f f8f00311-8db5-4187-bcb8-5054d9fbdac3 g.chr10:48389177C>T uc001jez.3 - 0 1815 c.1701G>A c.(1699-1701)gaG>gaA p.E567E NM_002900 NP_002891 P10745 RET3_HUMAN Homo sapiens retinol binding protein 3, interstitial (RBP3), mRNA. 567 4 X approximate tandem repeats. lipid metabolic process|proteolysis|transport|visual perception interphotoreceptor matrix retinal binding|serine-type peptidase activity central_nervous_system(3)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(8)|lung(30)|ovary(1)|prostate(7)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 59 Vitamin A(DB00162) CCGCGGTGATCTCACCTACCA 0.667000 26 15 0 0 0.000422831 0 0 PCDHGC5 56097 broad.mit.edu 37 5 140754857 140754857 + Nonsense_Mutation SNP C T T TCGA-EE-A3AC-06A-11D-A196-08 TCGA-EE-A3AC-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 883d623b-c427-4444-9ee3-66d18648130f f8f00311-8db5-4187-bcb8-5054d9fbdac3 g.chr5:140754857C>T uc003ljy.2 + 0 1207 c.1207C>T c.(1207-1209)Cga>Tga p.R403* PCDHGC5_uc003lji.2_Intron|PCDHGC5_uc003ljk.2_Intron|PCDHGC5_uc003ljm.2_Intron|PCDHGC5_uc003ljo.2_Intron|PCDHGC5_uc003ljq.2_Intron|PCDHGC5_uc003ljs.2_Intron|PCDHGC5_uc003lju.2_Intron|PCDHGC5_uc003ljw.2_Intron|PCDHGC5_uc011dau.2_Nonsense_Mutation_p.R403* NM_018919 NP_061742 Q9Y5F6 PCDGM_HUMAN Homo sapiens protocadherin gamma subfamily A, 6 (PCDHGA6), transcript variant 1, mRNA. 405 Cadherin 4. homophilic cell adhesion integral to membrane|plasma membrane calcium ion binding breast(2)|central_nervous_system(2)|endometrium(6)|kidney(4)|large_intestine(4)|lung(10)|ovary(4)|prostate(1)|urinary_tract(2) 35 KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191) CAATTATTATCGATTAGTGAC 0.458000 53 28 0 0 0.001512 0 0 FAM83C 128876 broad.mit.edu 37 20 33874858 33874859 + Missense_Mutation DNP GG AA AA TCGA-EE-A3AC-06A-11D-A196-08 TCGA-EE-A3AC-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 883d623b-c427-4444-9ee3-66d18648130f f8f00311-8db5-4187-bcb8-5054d9fbdac3 g.chr20:33874858_33874859GG>AA uc021wck.1 - 3 1841_1842 c.1723_1724CC>TT c.(1723-1725)cct>TTt p.P575F EIF6_uc002xbv.1_5'Flank|EIF6_uc002xbx.1_5'Flank|EIF6_uc002xbz.1_5'Flank|EIF6_uc002xby.1_5'Flank|FAM83C_uc002xcb.1_Missense_Mutation_p.P230F NM_178468 NP_848563 Q9BQN1 FA83C_HUMAN Homo sapiens family with sequence similarity 83, member C (FAM83C), mRNA. 575 central_nervous_system(2)|endometrium(3)|kidney(1)|large_intestine(6)|lung(19)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1) 40 BRCA - Breast invasive adenocarcinoma(18;0.00252) CCGATCACCAGGTCTGAGGGAA 0.634000 64 12 0 0 6.4e-05 0 0 STK11IP 114790 broad.mit.edu 37 2 220476525 220476525 + Silent SNP C T T TCGA-EE-A3AC-06A-11D-A196-08 TCGA-EE-A3AC-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 883d623b-c427-4444-9ee3-66d18648130f f8f00311-8db5-4187-bcb8-5054d9fbdac3 g.chr2:220476525C>T uc002vml.3 + 17 2380 c.2337C>T c.(2335-2337)acC>acT p.T779T NM_052902 NP_443134 Q8N1F8 S11IP_HUMAN Homo sapiens serine/threonine kinase 11 interacting protein (STK11IP), mRNA. 779 protein localization cytoplasm protein kinase binding breast(2)|endometrium(5)|kidney(1)|large_intestine(2)|lung(10)|ovary(1)|prostate(1)|urinary_tract(1) 23 Renal(207;0.0183) Epithelial(149;2.69e-07)|all cancers(144;5.91e-05)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942) CACCGAGCACCCGTGACCATG 0.597000 10 5 0 0 0.000602214 0 0 PMP2 5375 broad.mit.edu 37 8 82357094 82357094 + Silent SNP G A A TCGA-EE-A3AC-06A-11D-A196-08 TCGA-EE-A3AC-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 883d623b-c427-4444-9ee3-66d18648130f f8f00311-8db5-4187-bcb8-5054d9fbdac3 g.chr8:82357094G>A uc003ycb.1 - 1 302 c.204C>T c.(202-204)ggC>ggT p.G68G PMP2_uc010lzv.1_Intron NM_002677 NP_002668 P02689 MYP2_HUMAN Homo sapiens peripheral myelin protein 2 (PMP2), mRNA. 68 cytoplasm cholesterol binding|fatty acid binding|transporter activity endometrium(1)|kidney(1)|large_intestine(1)|lung(3) 6 Epithelial(68;0.186) CAAATTCCTGGCCTAGCTTGA 0.393000 48 31 0 0 0.00058488 0 0 VPS13A 23230 broad.mit.edu 37 9 79946995 79946995 + Missense_Mutation SNP G A A TCGA-EE-A3AC-06A-11D-A196-08 TCGA-EE-A3AC-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 883d623b-c427-4444-9ee3-66d18648130f f8f00311-8db5-4187-bcb8-5054d9fbdac3 g.chr9:79946995G>A uc004akr.3 + 45 6321 c.6061G>A c.(6061-6063)Gaa>Aaa p.E2021K VPS13A_uc004akp.4_Missense_Mutation_p.E2021K|VPS13A_uc004akq.4_Missense_Mutation_p.E2021K|VPS13A_uc004aks.3_Missense_Mutation_p.E1982K|VPS13A_uc004akt.3_Missense_Mutation_p.E361K NM_033305 NP_150648 Q96RL7 VP13A_HUMAN Homo sapiens vacuolar protein sorting 13 homolog A (S. cerevisiae) (VPS13A), transcript variant A, mRNA. 2021 Golgi to endosome transport|protein transport intracellular protein binding p.E2021*(4) breast(4)|central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(28)|liver(1)|lung(42)|ovary(3)|pancreas(3)|prostate(3)|skin(9)|upper_aerodigestive_tract(1)|urinary_tract(1) 104 TGCCTCACCTGAAAATGAATT 0.313000 69 43 0 0 0.000781405 0 0 HLTF 6596 broad.mit.edu 37 3 148792076 148792076 + Missense_Mutation SNP C T T TCGA-EE-A3AC-06A-11D-A196-08 TCGA-EE-A3AC-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 883d623b-c427-4444-9ee3-66d18648130f f8f00311-8db5-4187-bcb8-5054d9fbdac3 g.chr3:148792076C>T uc003ewq.1 - 3 673 c.455G>A c.(454-456)gGa>gAa p.G152E HLTF_uc003ewr.1_Missense_Mutation_p.G152E|HLTF_uc003ews.1_Missense_Mutation_p.G152E|HLTF_uc010hve.1_Missense_Mutation_p.G152E NM_139048 NP_620636 Q14527 HLTF_HUMAN Homo sapiens helicase-like transcription factor (HLTF), transcript variant 2, mRNA. 152 chromatin modification|transcription, DNA-dependent nucleus ATP binding|DNA binding|helicase activity|ligase activity|zinc ion binding breast(2)|cervix(1)|endometrium(5)|kidney(3)|large_intestine(9)|lung(18)|ovary(1)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(2) 47 LUSC - Lung squamous cell carcinoma(72;0.0473)|Lung(72;0.0607) TTCTTCTTTTCCCCAAAAAGT 0.353000 45 31 0 0 0.00209593 0 0 MUC16 94025 broad.mit.edu 37 19 9090772 9090772 + Missense_Mutation SNP G A A TCGA-EE-A3AC-06A-11D-A196-08 TCGA-EE-A3AC-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 883d623b-c427-4444-9ee3-66d18648130f f8f00311-8db5-4187-bcb8-5054d9fbdac3 g.chr19:9090772G>A uc002mkp.3 - 0 1247 c.1043C>T c.(1042-1044)tCc>tTc p.S348F NM_024690 NP_078966 Q8WXI7 MUC16_HUMAN Homo sapiens mucin 16, cell surface associated (MUC16), mRNA. 348 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 CCCCAGAGAGGAAATTGTGCT 0.502000 23 12 0 0 0.00136819 0 0 USHBP1 83878 broad.mit.edu 37 19 17373400 17373400 + Silent SNP C T T TCGA-EE-A3AC-06A-11D-A196-08 TCGA-EE-A3AC-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 883d623b-c427-4444-9ee3-66d18648130f f8f00311-8db5-4187-bcb8-5054d9fbdac3 g.chr19:17373400C>T uc002nfs.1 - 3 716 c.603G>A c.(601-603)ctG>ctA p.L201L USHBP1_uc002nft.1_Non-coding_Transcript|USHBP1_uc010xpk.1_Silent_p.L137L|USHBP1_uc010eam.1_Silent_p.L129L NM_031941 NP_114147 Q8N6Y0 USBP1_HUMAN Homo sapiens Usher syndrome 1C binding protein 1 (USHBP1), mRNA. 201 PDZ domain binding p.S200F(1) breast(3)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(4)|large_intestine(10)|liver(1)|lung(12)|ovary(3)|prostate(3)|skin(2)|upper_aerodigestive_tract(1) 44 GGATGGCCTCCAGGGAGGCCT 0.657000 36 15 0 0 0.000566183 0 0 DMRTC2 63946 broad.mit.edu 37 19 42354564 42354564 + Missense_Mutation SNP C T T TCGA-EE-A3AC-06A-11D-A196-08 TCGA-EE-A3AC-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 883d623b-c427-4444-9ee3-66d18648130f f8f00311-8db5-4187-bcb8-5054d9fbdac3 g.chr19:42354564C>T uc010xwe.2 + 6 1023 c.940C>T c.(940-942)Cca>Tca p.P314S DMRTC2_uc002orr.1_Missense_Mutation_p.P191S|DMRTC2_uc002ors.3_Intron NM_001040283 NP_001035373 Q8IXT2 DMRTD_HUMAN Homo sapiens DMRT-like family C2 (DMRTC2), mRNA. 275 Pro-rich. cell differentiation|sex differentiation nucleus DNA binding|metal ion binding|sequence-specific DNA binding transcription factor activity endometrium(1)|large_intestine(2)|lung(5)|prostate(1)|skin(1) 10 GCGGGGGTTCCCAGTCTGCTT 0.617000 22 17 0 0 0.00229938 0 0 USP26 83844 broad.mit.edu 37 X 132160351 132160351 + Missense_Mutation SNP G A A TCGA-EE-A3AC-06A-11D-A196-08 TCGA-EE-A3AC-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 883d623b-c427-4444-9ee3-66d18648130f f8f00311-8db5-4187-bcb8-5054d9fbdac3 g.chrX:132160351G>A uc011mvf.2 - 0 1950 c.1898C>T c.(1897-1899)tCt>tTt p.S633F USP26_uc010nrm.1_Missense_Mutation_p.S633F NM_031907 NP_114113 Q9BXU7 UBP26_HUMAN Homo sapiens ubiquitin specific peptidase 26 (USP26), mRNA. 633 protein deubiquitination|ubiquitin-dependent protein catabolic process nucleus cysteine-type peptidase activity|protein binding|ubiquitin thiolesterase activity breast(3)|central_nervous_system(3)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(11)|liver(2)|lung(18)|ovary(1)|prostate(2)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(3) 60 Acute lymphoblastic leukemia(192;0.000127) ATTTGGTTTAGAATTTTTTCC 0.398000 2 12 0 0 0.00185496 0 0 ATP6V1H 51606 broad.mit.edu 37 8 54684653 54684653 + Silent SNP C T T TCGA-EE-A3AC-06A-11D-A196-08 TCGA-EE-A3AC-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 883d623b-c427-4444-9ee3-66d18648130f f8f00311-8db5-4187-bcb8-5054d9fbdac3 g.chr8:54684653C>T uc003xrl.3 - 9 1097 c.945G>A c.(943-945)ctG>ctA p.L315L ATP6V1H_uc003xrk.3_Silent_p.L275L|ATP6V1H_uc003xrm.3_Silent_p.L315L|ATP6V1H_uc003xrn.3_Silent_p.L297L|ATP6V1H_uc011ldv.2_Silent_p.L235L|ATP6V1H_uc010lyd.3_Silent_p.L251L NM_213620 NP_998785 Q9UI12 VATH_HUMAN Homo sapiens ATPase, H+ transporting, lysosomal 50/57kDa, V1 subunit H (ATP6V1H), transcript variant 3, mRNA. 315 ATP hydrolysis coupled proton transport|cellular iron ion homeostasis|endocytosis|insulin receptor signaling pathway|interspecies interaction between organisms|regulation of defense response to virus by virus|transferrin transport|vacuolar acidification|viral reproduction cytosol|plasma membrane|vacuolar proton-transporting V-type ATPase, V1 domain enzyme regulator activity|protein binding|proton-transporting ATPase activity, rotational mechanism endometrium(3)|large_intestine(5)|lung(8)|ovary(1)|urinary_tract(1) 18 all_epithelial(80;0.0487)|Lung NSC(129;0.109)|all_lung(136;0.181) OV - Ovarian serous cystadenocarcinoma(7;2.79e-06)|Epithelial(17;0.000629)|all cancers(17;0.00359) CCAACTGTTTCAGAACTTTGC 0.393000 30 22 0 0 0.00152264 0 0 PCDP1 200373 broad.mit.edu 37 2 120369239 120369239 + Missense_Mutation SNP G A A TCGA-EE-A3AC-06A-11D-A196-08 TCGA-EE-A3AC-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 883d623b-c427-4444-9ee3-66d18648130f f8f00311-8db5-4187-bcb8-5054d9fbdac3 g.chr2:120369239G>A uc002tmb.3 + 13 1486 c.374G>A c.(373-375)gGa>gAa p.G125E PCDP1_uc010yyq.2_Missense_Mutation_p.G255E NM_001029996 NP_001025167 Q4G0U5 PCDP1_HUMAN Homo sapiens primary ciliary dyskinesia protein 1 (PCDP1), mRNA. 411 cilium calmodulin binding Colorectal(110;0.196) CTAGACAGAGGAGATCCTATT 0.328000 38 22 0 0 0.000586117 0 0 GPI 2821 broad.mit.edu 37 19 34884842 34884843 + Silent DNP CC TT TT TCGA-EE-A3AC-06A-11D-A196-08 TCGA-EE-A3AC-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 883d623b-c427-4444-9ee3-66d18648130f f8f00311-8db5-4187-bcb8-5054d9fbdac3 g.chr19:34884842_34884843CC>TT uc002nvf.3 + 12 1220_1221 c.1050_1051CC>TT c.(1048-1053)cccctg>ccTTtg p.350_351PL>PL GPI_uc010xrv.2_Silent_p.322_323PL>PL|GPI_uc002nvg.2_Silent_p.311_312PL>PL|GPI_uc010xrw.2_Silent_p.283_284PL>PL|GPI_uc002nvi.2_5'UTR NM_000175 NP_000166 P06744 G6PI_HUMAN Homo sapiens glucose-6-phosphate isomerase (GPI), transcript variant 2, mRNA. 311 angiogenesis|gluconeogenesis|glycolysis|hemostasis|humoral immune response cytosol|extracellular space|nucleus|plasma membrane cytokine activity|glucose-6-phosphate isomerase activity|growth factor activity breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(5)|lung(11)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1) 25 Esophageal squamous(110;0.162) GCACGACGCCCCTGGAGAAGAA 0.614000 75 39 0 0 6.4e-05 0 0 CNTNAP4 85445 broad.mit.edu 37 16 76482807 76482807 + Missense_Mutation SNP C T T TCGA-EE-A3AC-06A-11D-A196-08 TCGA-EE-A3AC-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 883d623b-c427-4444-9ee3-66d18648130f f8f00311-8db5-4187-bcb8-5054d9fbdac3 g.chr16:76482807C>T uc002fex.1 + 4 1034 c.895C>T c.(895-897)Cat>Tat p.H299Y CNTNAP4_uc002feu.1_Missense_Mutation_p.H295Y|CNTNAP4_uc002fev.1_Missense_Mutation_p.H208Y|CNTNAP4_uc010chb.1_Missense_Mutation_p.H271Y|CNTNAP4_uc002few.2_Missense_Mutation_p.H271Y NM_033401 NP_207837 Q9C0A0 CNTP4_HUMAN Homo sapiens contactin associated protein-like 4 (CNTNAP4), transcript variant 1, mRNA. 296 Laminin G-like 1. cell adhesion|signal transduction integral to membrane receptor binding breast(4)|central_nervous_system(1)|cervix(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(6)|lung(33)|ovary(2)|pancreas(1)|prostate(3)|upper_aerodigestive_tract(1) 64 GCATCATTTCCATGCACGGGG 0.423000 18 11 0 0 0.000673444 0 0 AQP8 343 broad.mit.edu 37 16 25228638 25228638 + Silent SNP C T T TCGA-EE-A3AC-06A-11D-A196-08 TCGA-EE-A3AC-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 883d623b-c427-4444-9ee3-66d18648130f f8f00311-8db5-4187-bcb8-5054d9fbdac3 g.chr16:25228638C>T uc002doc.3 + 1 214 c.132C>T c.(130-132)ggC>ggT p.G44G NM_001169 NP_001160 O94778 AQP8_HUMAN Homo sapiens aquaporin 8 (AQP8), mRNA. 44 cellular response to cAMP integral to plasma membrane water channel activity NS(1)|breast(1)|large_intestine(3)|lung(8)|pancreas(1)|stomach(1)|upper_aerodigestive_tract(1) 16 GBM - Glioblastoma multiforme(48;0.044) AACTGCTGGGCTCTGCTCTCT 0.622000 88 60 0 0 0.000781405 0 0 BTNL2 56244 broad.mit.edu 37 6 32364160 32364160 + Missense_Mutation SNP G A A TCGA-EE-A3AC-06A-11D-A196-08 TCGA-EE-A3AC-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 883d623b-c427-4444-9ee3-66d18648130f f8f00311-8db5-4187-bcb8-5054d9fbdac3 g.chr6:32364160G>A uc003obg.1 - 4 734 c.734C>T c.(733-735)tCt>tTt p.S245F BTNL2_uc010jty.1_5'UTR|BTNL2_uc010jtz.1_Non-coding_Transcript|BTNL2_uc010jua.1_Missense_Mutation_p.S35F NM_019602 NP_062548 Q9UIR0 BTNL2_HUMAN Homo sapiens butyrophilin-like 2 (MHC class II associated) (BTNL2), mRNA. 245 Ig-like V-type 3. integral to membrane p.S245Y(2) central_nervous_system(3)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(5)|prostate(1)|urinary_tract(1) 19 CACTTTTAAAGAAGCTGTTAA 0.428000 17 6 0 0 0.000157383 0 0 EAPP 55837 broad.mit.edu 37 14 35005439 35005439 + Silent SNP G A A TCGA-EE-A3AC-06A-11D-A196-08 TCGA-EE-A3AC-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 883d623b-c427-4444-9ee3-66d18648130f f8f00311-8db5-4187-bcb8-5054d9fbdac3 g.chr14:35005439G>A uc001wsd.1 - 1 226 c.117C>T c.(115-117)gaC>gaT p.D39D NM_018453 NP_060923 Q56P03 EAPP_HUMAN Homo sapiens E2F-associated phosphoprotein (EAPP), mRNA. 39 negative regulation of transcription elongation from RNA polymerase II promoter|positive regulation of cell proliferation|positive regulation of transcription elongation from RNA polymerase II promoter Golgi apparatus|nucleus|plasma membrane breast(1)|endometrium(1)|large_intestine(3)|lung(4)|ovary(1)|urinary_tract(2) 12 Breast(36;0.0473)|Hepatocellular(127;0.158) LUAD - Lung adenocarcinoma(48;0.00169)|Lung(238;0.00342)|Epithelial(34;0.18) GBM - Glioblastoma multiforme(112;0.0196) TTCGTTTTTGGTCAGGAGTTC 0.308000 35 27 0 0 0.0024448 0 0 C1orf216 127703 broad.mit.edu 37 1 36181741 36181741 + Missense_Mutation SNP G A A TCGA-EE-A3AC-06A-11D-A196-08 TCGA-EE-A3AC-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 883d623b-c427-4444-9ee3-66d18648130f f8f00311-8db5-4187-bcb8-5054d9fbdac3 g.chr1:36181741G>A uc001bzh.1 - 1 670 c.182C>T c.(181-183)tCc>tTc p.S61F C1orf216_uc021oli.1_Missense_Mutation_p.S61F NM_152374 NP_689587 Q8TAB5 CA216_HUMAN Homo sapiens chromosome 1 open reading frame 216 (C1orf216), mRNA. 61 kidney(2)|lung(3)|skin(2)|urinary_tract(1) 8 Myeloproliferative disorder(586;0.0393)|all_neural(195;0.196) TGACTCAGAGGAGCTCCTCCT 0.602000 OREG0013357 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 32 30 0 0 0.000953801 0 0 ZNF41 7592 broad.mit.edu 37 X 47307898 47307898 + Missense_Mutation SNP G A A TCGA-EE-A3AC-06A-11D-A196-08 TCGA-EE-A3AC-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 883d623b-c427-4444-9ee3-66d18648130f f8f00311-8db5-4187-bcb8-5054d9fbdac3 g.chrX:47307898G>A uc004dhs.4 - 3 1464 c.1397C>T c.(1396-1398)tCa>tTa p.S466L ZNF41_uc004dhu.4_Missense_Mutation_p.S458L|ZNF41_uc004dht.4_Missense_Mutation_p.S338L|ZNF41_uc004dhv.4_Missense_Mutation_p.S434L|ZNF41_uc004dhw.4_Missense_Mutation_p.S426L|ZNF41_uc004dhy.4_Missense_Mutation_p.S424L|ZNF41_uc004dhx.4_Missense_Mutation_p.S424L|ZNF41_uc011mlm.2_Missense_Mutation_p.S338L NM_153380 NP_700359 P51814 ZNF41_HUMAN Homo sapiens zinc finger protein 41 (ZNF41), transcript variant 2, mRNA. 466 nucleus DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding breast(1)|cervix(1)|endometrium(4)|large_intestine(5)|lung(8)|ovary(3)|upper_aerodigestive_tract(2) 24 all_lung(315;0.000129) CCTGAGTGCTGATTTTCTTGT 0.448000 11 53 0 0 0.000781405 0 0 TPP2 7174 broad.mit.edu 37 13 103301256 103301256 + Splice_Site SNP G A A TCGA-EE-A3AC-06A-11D-A196-08 TCGA-EE-A3AC-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 883d623b-c427-4444-9ee3-66d18648130f f8f00311-8db5-4187-bcb8-5054d9fbdac3 g.chr13:103301256G>A uc001vpi.4 + 22 2732 c.2629_splice c.e22-1 p.Y877_splice NM_003291 NP_003282 P29144 TPP2_HUMAN Homo sapiens tripeptidyl peptidase II (TPP2), mRNA. 877 proteolysis cytoplasm|nucleus aminopeptidase activity|serine-type endopeptidase activity|tripeptidyl-peptidase activity breast(2)|endometrium(5)|kidney(2)|large_intestine(12)|lung(21)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(4)|urinary_tract(1) 52 all_neural(89;0.0438)|Medulloblastoma(90;0.163)|Lung SC(71;0.184) TTCTTTTTCAGTATTCTTTGA 0.353000 10 8 0 0 0.000274275 0 0 MTTP 4547 broad.mit.edu 37 4 100528101 100528101 + Missense_Mutation SNP C T T TCGA-EE-A3AC-06A-11D-A196-08 TCGA-EE-A3AC-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 883d623b-c427-4444-9ee3-66d18648130f f8f00311-8db5-4187-bcb8-5054d9fbdac3 g.chr4:100528101C>T uc011cej.2 + 10 1635 c.1622C>T c.(1621-1623)cCt>cTt p.P541L MTTP_uc003hvc.4_Missense_Mutation_p.P514L NM_000253 NP_000244 P55157 MTP_HUMAN Homo sapiens microsomal triglyceride transfer protein (MTTP), mRNA. 514 Vitellogenin. lipid metabolic process|lipoprotein metabolic process endoplasmic reticulum lumen lipid binding|lipid transporter activity breast(3)|central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(14)|lung(19)|ovary(4)|prostate(5)|skin(1)|urinary_tract(1) 57 OV - Ovarian serous cystadenocarcinoma(123;6.04e-09) Hesperetin(DB01094) TATGATCTCCCTTTCATAACT 0.433000 16 14 0 0 0.000219431 0 0 SYT10 341359 broad.mit.edu 37 12 33559748 33559748 + Nonsense_Mutation SNP C T T TCGA-EE-A3AC-06A-11D-A196-08 TCGA-EE-A3AC-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 883d623b-c427-4444-9ee3-66d18648130f f8f00311-8db5-4187-bcb8-5054d9fbdac3 g.chr12:33559748C>T uc001rll.1 - 2 1350 c.1053G>A c.(1051-1053)tgG>tgA p.W351* SYT10_uc009zju.1_Nonsense_Mutation_p.W161* NM_198992 NP_945343 Q6XYQ8 SYT10_HUMAN Homo sapiens synaptotagmin X (SYT10), mRNA. 351 cell junction|integral to membrane|synaptic vesicle membrane metal ion binding|transporter activity NS(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|liver(1)|lung(18)|ovary(1)|prostate(3)|skin(4)|urinary_tract(1) 42 Lung NSC(5;8.37e-07)|Acute lymphoblastic leukemia(23;0.0122)|all_hematologic(23;0.0334) GAATATCTTTCCATACTGTGG 0.333000 27 13 0 0 0.000219431 0 0 ASXL3 80816 broad.mit.edu 37 18 31324786 31324786 + Silent SNP G A A TCGA-EE-A3AC-06A-11D-A196-08 TCGA-EE-A3AC-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 883d623b-c427-4444-9ee3-66d18648130f f8f00311-8db5-4187-bcb8-5054d9fbdac3 g.chr18:31324786G>A uc010dmg.1 + 11 5029 c.4974G>A c.(4972-4974)agG>agA p.R1658R ASXL3_uc002kxq.2_Silent_p.R1365R NM_030632 NP_085135 Q9C0F0 ASXL3_HUMAN Homo sapiens additional sex combs like 3 (Drosophila) (ASXL3), mRNA. 1658 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus metal ion binding breast(3)|endometrium(3)|kidney(3)|large_intestine(6)|lung(22)|ovary(2)|pancreas(1)|skin(2)|urinary_tract(1) 43 TTCATCCCAGGAATCTTGTAA 0.438000 44 28 0 0 0.000491102 0 0 OR2G3 81469 broad.mit.edu 37 1 247769751 247769751 + Silent SNP C T T TCGA-EE-A3AC-06A-11D-A196-08 TCGA-EE-A3AC-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 883d623b-c427-4444-9ee3-66d18648130f f8f00311-8db5-4187-bcb8-5054d9fbdac3 g.chr1:247769751C>T uc010pyz.2 + 0 864 c.864C>T c.(862-864)atC>atT p.I288I NM_001001914 NP_001001914 Q8NGZ4 OR2G3_HUMAN Homo sapiens olfactory receptor, family 2, subfamily G, member 3 (OR2G3), mRNA. 288 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity NS(1)|breast(3)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(2)|liver(1)|lung(31)|skin(5) 50 all_cancers(71;3.24e-05)|all_epithelial(71;1.3e-05)|Breast(184;0.0149)|Ovarian(71;0.0377)|all_lung(81;0.0662)|Lung NSC(105;0.0724) OV - Ovarian serous cystadenocarcinoma(106;0.017) TAAATCCTATCATCTATACTT 0.418000 74 24 0 0 0.000878237 0 0 FUT8 2530 broad.mit.edu 37 14 66082806 66082806 + Missense_Mutation SNP G A A TCGA-EE-A3AC-06A-11D-A196-08 TCGA-EE-A3AC-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 883d623b-c427-4444-9ee3-66d18648130f f8f00311-8db5-4187-bcb8-5054d9fbdac3 g.chr14:66082806G>A uc001xin.3 + 3 2041 c.314G>A c.(313-315)aGa>aAa p.R105K FUT8_uc001xio.3_Missense_Mutation_p.R105K|FUT8_uc010tsp.2_5'UTR|FUT8_uc001xir.4_Non-coding_Transcript|FUT8_uc001xip.3_Missense_Mutation_p.R105K|FUT8_uc001xiq.3_5'UTR|FUT8_uc021ruy.1_5'Flank NM_178155 NP_004471 Q9BYC5 FUT8_HUMAN Homo sapiens fucosyltransferase 8 (alpha (1,6) fucosyltransferase) (FUT8), transcript variant 1, mRNA. 105 L-fucose catabolic process|N-glycan processing|in utero embryonic development|oligosaccharide biosynthetic process|post-translational protein modification|protein N-linked glycosylation via asparagine|protein glycosylation in Golgi Golgi cisterna membrane|integral to membrane SH3 domain binding|glycoprotein 6-alpha-L-fucosyltransferase activity endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(12)|ovary(1)|prostate(2)|stomach(1)|upper_aerodigestive_tract(2) 22 all cancers(60;0.00109)|OV - Ovarian serous cystadenocarcinoma(108;0.00242)|BRCA - Breast invasive adenocarcinoma(234;0.0114) AAACAGACCAGAAATGGTAGG 0.398000 16 8 0 0 0.000157383 0 0 FAM208B 54906 broad.mit.edu 37 10 5789846 5789847 + Missense_Mutation DNP GG AA AA TCGA-EE-A3AC-06A-11D-A196-08 TCGA-EE-A3AC-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 883d623b-c427-4444-9ee3-66d18648130f f8f00311-8db5-4187-bcb8-5054d9fbdac3 g.chr10:5789846_5789847GG>AA uc001iij.3 + 14 5087_5088 c.4462_4463GG>AA c.(4462-4464)gga>AAa p.G1488K FAM208B_uc001iik.3_Missense_Mutation_p.G332K NM_017782 NP_060252 Q5VWN6 CJ018_HUMAN Homo sapiens family with sequence similarity 208, member B (FAM208B), mRNA. 1488 TGATCATCCAGGAAGAACAGGT 0.441000 16 15 0 0 6.4e-05 0 0 CACNA1E 777 broad.mit.edu 37 1 181725113 181725113 + Silent SNP G A A TCGA-EE-A3AC-06A-11D-A196-08 TCGA-EE-A3AC-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 883d623b-c427-4444-9ee3-66d18648130f f8f00311-8db5-4187-bcb8-5054d9fbdac3 g.chr1:181725113G>A uc009wxt.3 + 28 4206 c.4011G>A c.(4009-4011)gaG>gaA p.E1337E CACNA1E_uc001gow.3_Silent_p.E1337E|CACNA1E_uc009wxs.3_Silent_p.E1318E|CACNA1E_uc001gox.1_Silent_p.E563E NM_001205293 NP_001192222 Q15878 CAC1E_HUMAN Homo sapiens calcium channel, voltage-dependent, R type, alpha 1E subunit (CACNA1E), transcript variant 1, mRNA. 1337 energy reserve metabolic process|membrane depolarization|synaptic transmission voltage-gated calcium channel complex voltage-gated calcium channel activity NS(2)|breast(9)|central_nervous_system(3)|cervix(1)|endometrium(22)|haematopoietic_and_lymphoid_tissue(6)|kidney(4)|large_intestine(34)|lung(99)|ovary(6)|pancreas(1)|prostate(9)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2) 204 TAGATCATGAGAAAAACAAGA 0.488000 46 11 0 0 0.00185496 0 0 OR2H1 26716 broad.mit.edu 37 6 29430318 29430318 + Missense_Mutation SNP C T T TCGA-EE-A3AC-06A-11D-A196-08 TCGA-EE-A3AC-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 883d623b-c427-4444-9ee3-66d18648130f f8f00311-8db5-4187-bcb8-5054d9fbdac3 g.chr6:29430318C>T uc003nmi.3 + 2 1215 c.772C>T c.(772-774)Ctc>Ttc p.L258F OR2H1_uc003nmj.1_Missense_Mutation_p.L258F|OR2H1_uc010jri.2_Missense_Mutation_p.L180F|OR2H1_uc021ytr.1_Missense_Mutation_p.L258F NM_030883 NP_112145 Q9GZK4 OR2H1_HUMAN Homo sapiens olfactory receptor, family 2, subfamily H, member 1 (OR2H1), mRNA. 258 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity large_intestine(5)|lung(12) 17 TGCTGTCTACCTCCAGCCCAA 0.527000 48 32 0 0 0.00058488 0 0 USP29 57663 broad.mit.edu 37 19 57642498 57642498 + Missense_Mutation SNP C T T TCGA-EE-A3AC-06A-11D-A196-08 TCGA-EE-A3AC-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 883d623b-c427-4444-9ee3-66d18648130f f8f00311-8db5-4187-bcb8-5054d9fbdac3 g.chr19:57642498C>T uc002qny.3 + 3 2811 c.2455C>T c.(2455-2457)Cct>Tct p.P819S USP29_uc021vci.1_Missense_Mutation_p.P819S NM_020903 NP_065954 Q9HBJ7 UBP29_HUMAN Homo sapiens ubiquitin specific peptidase 29 (USP29), mRNA. 819 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) GATGGGGGATCCTCTCCAGGC 0.483000 30 12 0 0 0.000308642 0 0 KIAA1462 57608 broad.mit.edu 37 10 30336558 30336558 + Missense_Mutation SNP C T T TCGA-EE-A3AC-06A-11D-A196-08 TCGA-EE-A3AC-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 883d623b-c427-4444-9ee3-66d18648130f f8f00311-8db5-4187-bcb8-5054d9fbdac3 g.chr10:30336558C>T uc009xle.2 - 1 321 c.184G>A c.(184-186)Ggg>Agg p.G62R KIAA1462_uc001iux.3_Missense_Mutation_p.G62R|KIAA1462_uc001iuy.3_Missense_Mutation_p.G62R|KIAA1462_uc001iuz.3_5'UTR NM_020848 NP_065899 Q9P266 K1462_HUMAN Homo sapiens KIAA1462 (KIAA1462), mRNA. 62 p.A61A(1) breast(3)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(17)|lung(23)|ovary(6)|prostate(3)|skin(5)|upper_aerodigestive_tract(1) 75 TGTCCTTTCCCCGCGGACGTC 0.677000 23 15 0 0 0.000219431 0 0 LTF 4057 broad.mit.edu 37 3 46479494 46479494 + Missense_Mutation SNP C T T TCGA-EE-A3AC-06A-11D-A196-08 TCGA-EE-A3AC-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 883d623b-c427-4444-9ee3-66d18648130f f8f00311-8db5-4187-bcb8-5054d9fbdac3 g.chr3:46479494C>T uc003cpq.3 - 15 2276 c.2035G>A c.(2035-2037)Gaa>Aaa p.E679K LTF_uc003fzr.3_Missense_Mutation_p.E635K|LTF_uc010hjh.3_Missense_Mutation_p.E677K|LTF_uc003cpr.3_Missense_Mutation_p.E666K NM_002343 NP_001186078 P02788 TRFL_HUMAN Homo sapiens lactotransferrin (LTF), transcript variant 1, mRNA. 679 Transferrin-like 2. cellular iron ion homeostasis|defense response to bacterium|humoral immune response|iron ion transport extracellular region|stored secretory granule ferric iron binding|heparin binding|protein binding|serine-type endopeptidase activity p.E679K(2) NS(1)|breast(3)|central_nervous_system(3)|endometrium(4)|kidney(3)|large_intestine(5)|lung(13)|ovary(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(2) 40 all cancers(1;7.55e-14)|GBM - Glioblastoma multiforme(1;2.1e-09)|Epithelial(1;9.25e-07)|Colorectal(1;3.81e-05)|BRCA - Breast invasive adenocarcinoma(193;0.00129)|COAD - Colon adenocarcinoma(1;0.00308)|KIRC - Kidney renal clear cell carcinoma(197;0.0205)|Kidney(197;0.0242)|OV - Ovarian serous cystadenocarcinoma(275;0.089) Pefloxacin(DB00487) AAATATTTTTCATATGTTGTT 0.453000 117 60 0 0 0.000781405 0 0 SRCIN1 80725 broad.mit.edu 37 17 36708269 36708269 + Silent SNP G A A TCGA-EE-A3AC-06A-11D-A196-08 TCGA-EE-A3AC-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 883d623b-c427-4444-9ee3-66d18648130f f8f00311-8db5-4187-bcb8-5054d9fbdac3 g.chr17:36708269G>A uc002hqd.3 - 13 2805 c.2580C>T c.(2578-2580)ttC>ttT p.F860F SRCIN1_uc002hqf.1_Silent_p.F732F|SRCIN1_uc002hqe.2_Silent_p.F714F|SRCIN1_uc002hqg.3_Silent_p.F166F NM_025248 NP_079524 Q9C0H9 SRCN1_HUMAN Homo sapiens SRC kinase signaling inhibitor 1 (SRCIN1), mRNA. 732 Pro-rich. 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 p.F860V(1) endometrium(2)|kidney(1)|large_intestine(6)|lung(9)|prostate(1) 19 GTGGCATTTCGAAGTCCACGC 0.622000 54 29 0 0 0.000814825 0 0 SLC25A42 284439 broad.mit.edu 37 19 19218738 19218738 + Missense_Mutation SNP C T T TCGA-EE-A3AC-06A-11D-A196-08 TCGA-EE-A3AC-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 883d623b-c427-4444-9ee3-66d18648130f f8f00311-8db5-4187-bcb8-5054d9fbdac3 g.chr19:19218738C>T uc002nlf.2 + 6 689 c.533C>T c.(532-534)tCg>tTg p.S178L NM_178526 NP_848621 Q86VD7 S2542_HUMAN Homo sapiens solute carrier family 25, member 42 (SLC25A42), mRNA. 178 transmembrane transport integral to membrane|mitochondrial inner membrane binding cervix(1)|large_intestine(2)|lung(3) 6 OV - Ovarian serous cystadenocarcinoma(5;5.4e-06)|Epithelial(12;0.000497) ATCCGCATCTCGAGAGAAGAG 0.577000 83 50 0 0 0.000781405 0 0 MORC1 27136 broad.mit.edu 37 3 108682428 108682428 + Missense_Mutation SNP C T T TCGA-EE-A3AC-06A-11D-A196-08 TCGA-EE-A3AC-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 883d623b-c427-4444-9ee3-66d18648130f f8f00311-8db5-4187-bcb8-5054d9fbdac3 g.chr3:108682428C>T uc003dxl.3 - 26 2719 c.2632G>A c.(2632-2634)Gaa>Aaa p.E878K MORC1_uc011bhn.2_Missense_Mutation_p.E857K NM_014429 NP_055244 Q86VD1 MORC1_HUMAN Homo sapiens MORC family CW-type zinc finger 1 (MORC1), mRNA. 878 cell differentiation|multicellular organismal development|spermatogenesis nucleus ATP binding|zinc ion binding p.E878D(1) 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 ATTTTTTTTTCATATTGGACC 0.279000 30 10 0 0 0.00185496 0 0 CCNK 8812 broad.mit.edu 37 14 99969075 99969075 + Silent SNP G A A TCGA-EE-A3AC-06A-11D-A196-08 TCGA-EE-A3AC-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 883d623b-c427-4444-9ee3-66d18648130f f8f00311-8db5-4187-bcb8-5054d9fbdac3 g.chr14:99969075G>A uc001ygi.4 + 7 895 c.765G>A c.(763-765)ctG>ctA p.L255L NM_001099402 NP_001092872 O75909 CCNK_HUMAN Homo sapiens cyclin K (CCNK), mRNA. 255 cell division|mitosis|regulation of cyclin-dependent protein kinase activity|regulation of transcription, DNA-dependent|transcription from RNA polymerase II promoter protein kinase binding NS(1)|endometrium(2)|lung(3) 6 all_cancers(154;0.224)|all_epithelial(191;0.0643)|Melanoma(154;0.0866) ACCAAATCCTGGATCTTTACT 0.403000 26 19 0 0 0.00188189 0 0 EP400 57634 broad.mit.edu 37 12 132529956 132529956 + Missense_Mutation SNP C T T TCGA-EE-A3AC-06A-11D-A196-08 TCGA-EE-A3AC-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 883d623b-c427-4444-9ee3-66d18648130f f8f00311-8db5-4187-bcb8-5054d9fbdac3 g.chr12:132529956C>T uc001ujn.3 + 37 7029 c.6877C>T c.(6877-6879)Cgc>Tgc p.R2293C EP400_uc021rgq.1_Missense_Mutation_p.R2292C|EP400_uc001ujm.3_Missense_Mutation_p.R2212C NM_015409 NP_056224 Q96L91 EP400_HUMAN Homo sapiens E1A binding protein p400 (EP400), mRNA. 2329 histone H2A acetylation|histone H4 acetylation|regulation of transcription, DNA-dependent NuA4 histone acetyltransferase complex|nuclear speck ATP binding|DNA binding|helicase activity NS(1)|breast(6)|central_nervous_system(10)|cervix(1)|endometrium(21)|kidney(13)|large_intestine(25)|lung(56)|ovary(5)|prostate(8)|skin(6)|stomach(4)|upper_aerodigestive_tract(2)|urinary_tract(3) 161 all_neural(191;0.0982)|Medulloblastoma(191;0.163) all_epithelial(31;0.198) OV - Ovarian serous cystadenocarcinoma(86;3.01e-08)|Epithelial(86;3.43e-07)|all cancers(50;2.01e-06) TCTGAAAATTCGCAGAGAGGG 0.577000 30 12 0 0 0.00136819 0 0 TMIGD2 126259 broad.mit.edu 37 19 4292617 4292617 + Silent SNP G A A TCGA-EE-A3AC-06A-11D-A196-08 TCGA-EE-A3AC-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 883d623b-c427-4444-9ee3-66d18648130f f8f00311-8db5-4187-bcb8-5054d9fbdac3 g.chr19:4292617G>A uc002lzx.2 - 4 874 c.828C>T c.(826-828)ttC>ttT p.F276F TMIGD2_uc021umz.1_Missense_Mutation_p.S160F|TMIGD2_uc021una.1_Missense_Mutation_p.S108F|TMIGD2_uc010dtv.2_Silent_p.F272F NM_144615 NP_653216 Q96BF3 TMIG2_HUMAN Homo sapiens transmembrane and immunoglobulin domain containing 2 (TMIGD2), transcript variant 1, mRNA. 276 Pro-rich. integral to membrane p.G275R(1) breast(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(10)|prostate(1)|skin(2) 19 UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.0339)|STAD - Stomach adenocarcinoma(1328;0.18) CCACTTTGGGGAACCCTTTTG 0.637000 76 31 0 0 0.000692331 0 0 ARID1A 8289 broad.mit.edu 37 1 27057884 27057884 + Missense_Mutation SNP C T T TCGA-EE-A3AC-06A-11D-A196-08 TCGA-EE-A3AC-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 883d623b-c427-4444-9ee3-66d18648130f f8f00311-8db5-4187-bcb8-5054d9fbdac3 g.chr1:27057884C>T uc001bmv.1 + 2 1965 c.1592C>T c.(1591-1593)cCg>cTg p.P531L ARID1A_uc001bmt.1_Missense_Mutation_p.P531L|ARID1A_uc001bmu.1_Missense_Mutation_p.P531L|ARID1A_uc001bmw.1_Missense_Mutation_p.P148L NM_006015 NP_006006 O14497 ARI1A_HUMAN Homo sapiens AT rich interactive domain 1A (SWI-like) (ARID1A), transcript variant 1, mRNA. 531 androgen receptor signaling pathway|chromatin-mediated maintenance of transcription|estrogen receptor signaling pathway|glucocorticoid receptor signaling pathway|nervous system development|nucleosome mobilization|transcription, DNA-dependent SWI/SNF complex|nBAF complex|npBAF complex DNA binding|protein binding p.P531L(2) ARID1A/MAST2_ENST00000361297(2) NS(1)|autonomic_ganglia(1)|biliary_tract(1)|breast(13)|central_nervous_system(6)|cervix(2)|endometrium(56)|haematopoietic_and_lymphoid_tissue(8)|kidney(10)|large_intestine(41)|liver(31)|lung(34)|ovary(130)|pancreas(18)|prostate(8)|skin(9)|stomach(14)|upper_aerodigestive_tract(4)|urinary_tract(24) 411 all_cancers(24;6.36e-27)|all_epithelial(13;5.93e-24)|Colorectal(325;3.46e-05)|all_lung(284;4.76e-05)|Lung NSC(340;5.83e-05)|Breast(348;9.7e-05)|Renal(390;0.0007)|Ovarian(437;0.00473)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0381) UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|all cancers(4;2.61e-56)|Epithelial(14;7.53e-55)|OV - Ovarian serous cystadenocarcinoma(117;4.5e-30)|Colorectal(126;2.07e-09)|COAD - Colon adenocarcinoma(152;4.29e-07)|BRCA - Breast invasive adenocarcinoma(304;4.13e-05)|STAD - Stomach adenocarcinoma(196;0.000279)|KIRC - Kidney renal clear cell carcinoma(1967;0.000794)|GBM - Glioblastoma multiforme(114;0.0132)|READ - Rectum adenocarcinoma(331;0.0469)|Lung(427;0.167)|LUSC - Lung squamous cell carcinoma(448;0.242) CAGCAGTCCCCGGCTCCATAC 0.622000 """Mis, N, F, S, D""" """clear cell ovarian carcinoma, RCC""" 75 42 0 0 0.000781405 0 0 DNAH5 1767 broad.mit.edu 37 5 13894774 13894774 + Missense_Mutation SNP T A A TCGA-EE-A3AC-06A-11D-A196-08 TCGA-EE-A3AC-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 883d623b-c427-4444-9ee3-66d18648130f f8f00311-8db5-4187-bcb8-5054d9fbdac3 g.chr5:13894774T>A uc003jfd.2 - 15 2458 c.2416A>T c.(2416-2418)Act>Tct p.T806S NM_001369 NP_001360 Q8TE73 DYH5_HUMAN Homo sapiens dynein, axonemal, heavy chain 5 (DNAH5), mRNA. 806 Stem (By similarity). microtubule-based movement cilium axoneme|cytoplasm|microtubule ATP binding|ATPase activity|microtubule motor activity NS(6)|breast(14)|central_nervous_system(4)|cervix(2)|endometrium(23)|haematopoietic_and_lymphoid_tissue(8)|kidney(11)|large_intestine(85)|liver(1)|lung(129)|ovary(16)|pancreas(2)|prostate(5)|skin(48)|stomach(5)|upper_aerodigestive_tract(11)|urinary_tract(8) 378 Lung NSC(4;0.00476) TTTGCAAAAGTGTTTTCTAAA 0.388000 Kartagener syndrome 26 17 0 0 0.00152264 0 0 ZNF169 169841 broad.mit.edu 37 9 97062188 97062188 + Silent SNP C T T TCGA-EE-A3AC-06A-11D-A196-08 TCGA-EE-A3AC-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 883d623b-c427-4444-9ee3-66d18648130f f8f00311-8db5-4187-bcb8-5054d9fbdac3 g.chr9:97062188C>T uc022bki.1 + 3 406 c.351C>T c.(349-351)ccC>ccT p.P117P ZNF169_uc004aum.1_Silent_p.P116P NM_194320 NP_919301 Q14929 ZN169_HUMAN Homo sapiens zinc finger protein 169 (ZNF169), mRNA. 116 nucleus DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding endometrium(1)|kidney(2)|large_intestine(3)|lung(8)|ovary(2)|prostate(3)|skin(3)|stomach(1)|upper_aerodigestive_tract(1) 24 Acute lymphoblastic leukemia(62;0.136) GTGGCCATCCCACACAGATCT 0.517000 39 32 0 0 0.000491102 0 0 CA13 377677 broad.mit.edu 37 8 86163020 86163020 + Missense_Mutation SNP C T T TCGA-EE-A3AC-06A-11D-A196-08 TCGA-EE-A3AC-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 883d623b-c427-4444-9ee3-66d18648130f f8f00311-8db5-4187-bcb8-5054d9fbdac3 g.chr8:86163020C>T uc003ydg.2 + 1 431 c.89C>T c.(88-90)tCt>tTt p.S30F CA13_uc003ydf.1_Non-coding_Transcript NM_198584 NP_940986 Q8N1Q1 CAH13_HUMAN Homo sapiens carbonic anhydrase XIII (CA13), mRNA. 30 one-carbon metabolic process carbonate dehydratase activity|zinc ion binding large_intestine(1)|lung(6) 7 GATCAGCAATCTCCAATTGAG 0.368000 72 35 0 0 0.000953801 0 0 MYH11 4629 broad.mit.edu 37 16 15931849 15931849 + Silent SNP C T T TCGA-EE-A3AC-06A-11D-A196-08 TCGA-EE-A3AC-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 883d623b-c427-4444-9ee3-66d18648130f f8f00311-8db5-4187-bcb8-5054d9fbdac3 g.chr16:15931849C>T uc002ddx.3 - 1 368 c.261G>A c.(259-261)gtG>gtA p.V87V MYH11_uc002ddv.3_Silent_p.V87V|MYH11_uc002ddw.3_Silent_p.V87V|MYH11_uc002ddy.3_Silent_p.V87V|MYH11_uc010bvg.3_5'UTR|MYH11_uc002deb.3_Silent_p.V87V NM_001040114 NP_001035203 P35749 MYH11_HUMAN Homo sapiens myosin, heavy chain 11, smooth muscle (MYH11), transcript variant SM1B, mRNA. 87 Myosin head-like. axon guidance|cardiac muscle fiber development|elastic fiber assembly|skeletal muscle myosin thick filament assembly|smooth muscle contraction cytosol|melanosome|muscle myosin complex|myosin filament ATP binding|actin binding|calmodulin binding|motor activity|structural constituent of muscle NS(2)|breast(7)|central_nervous_system(1)|endometrium(11)|kidney(5)|large_intestine(34)|liver(1)|lung(37)|ovary(9)|pancreas(1)|prostate(7)|skin(7)|upper_aerodigestive_tract(1) 123 CCATGTCCTCCACCTTGGAGA 0.542000 T CBFB AML 72 44 0 0 0.000509022 0 0 CPNE5 57699 broad.mit.edu 37 6 36714266 36714266 + Silent SNP G A A TCGA-EE-A3AC-06A-11D-A196-08 TCGA-EE-A3AC-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 883d623b-c427-4444-9ee3-66d18648130f f8f00311-8db5-4187-bcb8-5054d9fbdac3 g.chr6:36714266G>A uc003omr.1 - 15 1174 c.1107C>T c.(1105-1107)atC>atT p.I369I CPNE5_uc003omp.1_Silent_p.I77I|CPNE5_uc010jwn.1_Silent_p.I19I|CPNE5_uc003omq.1_Silent_p.I19I NM_020939 NP_065990 Q9HCH3 CPNE5_HUMAN Homo sapiens copine V (CPNE5), mRNA. 369 VWFA. central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(4)|large_intestine(4)|liver(1)|lung(9)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1) 25 AGTGCTGGATGATCTCTCCGA 0.617000 28 27 0 0 0.001512 0 0 DNAH10 196385 broad.mit.edu 37 12 124325937 124325937 + Missense_Mutation SNP G A A TCGA-EE-A3AC-06A-11D-A196-08 TCGA-EE-A3AC-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 883d623b-c427-4444-9ee3-66d18648130f f8f00311-8db5-4187-bcb8-5054d9fbdac3 g.chr12:124325937G>A uc001uft.4 + 28 4876 c.4851G>A c.(4849-4851)atG>atA p.M1617I NM_207437 NP_997320 Q8IVF4 DYH10_HUMAN Homo sapiens dynein, axonemal, heavy chain 10 (DNAH10), mRNA. 1617 Stem (By similarity). microtubule-based movement cilium axoneme|cytoplasm|dynein complex|microtubule ATP binding|ATPase activity|microtubule motor activity p.M209I(1)|p.M1617I(1) 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) TGTCCGCGATGATTTCAGCAG 0.502000 129 101 0 0 0.000781405 0 0 CACNA1E 777 broad.mit.edu 37 1 181721289 181721289 + Missense_Mutation SNP G A A TCGA-EE-A3AC-06A-11D-A196-08 TCGA-EE-A3AC-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 883d623b-c427-4444-9ee3-66d18648130f f8f00311-8db5-4187-bcb8-5054d9fbdac3 g.chr1:181721289G>A uc009wxt.3 + 26 3937 c.3742G>A c.(3742-3744)Gga>Aga p.G1248R CACNA1E_uc001gow.3_Missense_Mutation_p.G1248R|CACNA1E_uc009wxs.3_Missense_Mutation_p.G1229R|CACNA1E_uc001gox.1_Missense_Mutation_p.G474R NM_001205293 NP_001192222 Q15878 CAC1E_HUMAN Homo sapiens calcium channel, voltage-dependent, R type, alpha 1E subunit (CACNA1E), transcript variant 1, mRNA. 1248 energy reserve metabolic process|membrane depolarization|synaptic transmission voltage-gated calcium channel complex voltage-gated calcium channel activity NS(2)|breast(9)|central_nervous_system(3)|cervix(1)|endometrium(22)|haematopoietic_and_lymphoid_tissue(6)|kidney(4)|large_intestine(34)|lung(99)|ovary(6)|pancreas(1)|prostate(9)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2) 204 AACCAACAAAGGACGGGACAT 0.478000 61 32 0 0 0.000814825 0 0 KAT2B 8850 broad.mit.edu 37 3 20178515 20178515 + Missense_Mutation SNP G A A TCGA-EE-A3AC-06A-11D-A196-08 TCGA-EE-A3AC-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 883d623b-c427-4444-9ee3-66d18648130f f8f00311-8db5-4187-bcb8-5054d9fbdac3 g.chr3:20178515G>A uc003cbq.3 + 11 2277 c.1831G>A c.(1831-1833)Gaa>Aaa p.E611K NM_003884 NP_003875 Q92831 KAT2B_HUMAN Homo sapiens K(lysine) acetyltransferase 2B (KAT2B), mRNA. 611 N-acetyltransferase. N-terminal peptidyl-lysine acetylation|cell cycle arrest|cellular response to insulin stimulus|chromatin remodeling|histone H3 acetylation|interspecies interaction between organisms|negative regulation of cell proliferation|transcription initiation from RNA polymerase I promoter Ada2/Gcn5/Ada3 transcription activator complex|PCAF complex|chromatin remodeling complex cyclin-dependent protein kinase inhibitor activity|histone acetyltransferase activity|histone deacetylase binding|protein kinase binding|transcription coactivator activity|transcription factor binding NS(1)|breast(1)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(10)|lung(15)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|urinary_tract(1) 40 ATATGCAGATGAATATGCAAT 0.383000 31 20 0 0 0.00229938 0 0 CLK1 1195 broad.mit.edu 37 2 201718717 201718717 + Splice_Site SNP C T T TCGA-EE-A3AC-06A-11D-A196-08 TCGA-EE-A3AC-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 883d623b-c427-4444-9ee3-66d18648130f f8f00311-8db5-4187-bcb8-5054d9fbdac3 g.chr2:201718717C>T uc002uwe.2 - 12 1402 c.1221_splice c.e12-1 p.R407_splice CLK1_uc010zhi.1_Splice_Site_p.R449_splice|CLK1_uc002uwf.2_Splice_Site_p.R181_splice|CLK1_uc002uwg.2_Splice_Site_p.R256_splice NM_004071 NP_004062 P49759 CLK1_HUMAN Homo sapiens CDC-like kinase 1 (CLK1), transcript variant 1, mRNA. 407 Protein kinase. cell proliferation nucleus ATP binding|non-membrane spanning protein tyrosine kinase activity|protein serine/threonine kinase activity NS(1)|endometrium(2)|kidney(4)|large_intestine(6)|lung(12)|ovary(1)|pancreas(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1) 33 TTTACGTTTCCTAAAAATAAG 0.368000 45 29 0 0 0.001512 0 0 PLXDC2 84898 broad.mit.edu 37 10 20453417 20453417 + Silent SNP G A A TCGA-EE-A3AC-06A-11D-A196-08 TCGA-EE-A3AC-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 883d623b-c427-4444-9ee3-66d18648130f f8f00311-8db5-4187-bcb8-5054d9fbdac3 g.chr10:20453417G>A uc001iqg.1 + 6 1441 c.804G>A c.(802-804)caG>caA p.Q268Q PLXDC2_uc001iqh.1_Silent_p.Q219Q|PLXDC2_uc009xkc.1_Non-coding_Transcript NM_032812 NP_116201 Q6UX71 PXDC2_HUMAN Homo sapiens plexin domain containing 2 (PLXDC2), mRNA. 268 integral to membrane breast(1)|central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(9)|liver(1)|lung(9)|ovary(2)|skin(3)|stomach(1) 34 TGGTCACACAGATAAGTTCAA 0.423000 20 10 0 0 0.000978159 0 0 SMARCAL1 50485 broad.mit.edu 37 2 217279598 217279598 + Silent SNP C T T TCGA-EE-A3AC-06A-11D-A196-08 TCGA-EE-A3AC-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 883d623b-c427-4444-9ee3-66d18648130f f8f00311-8db5-4187-bcb8-5054d9fbdac3 g.chr2:217279598C>T uc002vgc.4 + 2 501 c.171C>T c.(169-171)ttC>ttT p.F57F SMARCAL1_uc002vgd.4_Silent_p.F57F|SMARCAL1_uc010fvg.3_Silent_p.F57F NM_014140 NP_054859 Q9NZC9 SMAL1_HUMAN Homo sapiens SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily a-like 1 (SMARCAL1), transcript variant 1, mRNA. 57 DNA metabolic process|chromatin modification|regulation of transcription from RNA polymerase II promoter nucleus ATP binding|DNA binding|DNA helicase activity|DNA-dependent ATPase activity NS(1)|breast(3)|endometrium(4)|kidney(3)|large_intestine(10)|liver(1)|lung(15)|ovary(3)|prostate(1)|skin(1) 42 Renal(323;0.0458) Epithelial(149;9.48e-06)|all cancers(144;0.000621)|LUSC - Lung squamous cell carcinoma(224;0.00829)|Lung(261;0.0111) CCCAAAATTTCCCAAGGGAGT 0.498000 Schimke Immuno-Osseous Dysplasia 84 57 0 0 0.000781405 0 0 SYT1 6857 broad.mit.edu 37 12 79611408 79611408 + Missense_Mutation SNP G A A TCGA-EE-A3AC-06A-11D-A196-08 TCGA-EE-A3AC-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 883d623b-c427-4444-9ee3-66d18648130f f8f00311-8db5-4187-bcb8-5054d9fbdac3 g.chr12:79611408G>A uc001sys.3 + 4 780 c.109G>A c.(109-111)Gaa>Aaa p.E37K SYT1_uc001syt.3_Missense_Mutation_p.E37K|SYT1_uc001syu.3_Missense_Mutation_p.E37K|SYT1_uc001syv.3_Missense_Mutation_p.E37K NM_001135805 NP_005630 P21579 SYT1_HUMAN Homo sapiens synaptotagmin I (SYT1), transcript variant 2, mRNA. 37 detection of calcium ion|glutamate secretion|neurotransmitter secretion|protein homooligomerization cell junction|chromaffin granule membrane|clathrin sculpted acetylcholine transport vesicle membrane|clathrin sculpted gamma-aminobutyric acid transport vesicle membrane|clathrin sculpted glutamate transport vesicle membrane|clathrin sculpted monoamine transport vesicle membrane|endocytic vesicle membrane|integral to membrane|synaptic vesicle membrane 1-phosphatidylinositol binding|low-density lipoprotein particle receptor binding|metal ion binding|syntaxin-1 binding|transporter activity NS(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(11)|ovary(1)|pancreas(2)|skin(6) 25 AGAAGGAAAGGAAGATGCATT 0.468000 34 8 0 0 0.000442599 0 0 LGR5 8549 broad.mit.edu 37 12 71977897 71977897 + Missense_Mutation SNP G A A TCGA-EE-A3AC-06A-11D-A196-08 TCGA-EE-A3AC-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 883d623b-c427-4444-9ee3-66d18648130f f8f00311-8db5-4187-bcb8-5054d9fbdac3 g.chr12:71977897G>A uc001swl.3 + 17 2155 c.2107G>A c.(2107-2109)Ggc>Agc p.G703S LGR5_uc001swm.3_Missense_Mutation_p.G679S|LGR5_uc021rar.1_Missense_Mutation_p.G631S|LGR5_uc001swn.1_Intron NM_003667 NP_003658 O75473 LGR5_HUMAN Homo sapiens leucine-rich repeat containing G protein-coupled receptor 5 (LGR5), mRNA. 703 integral to plasma membrane protein-hormone receptor activity p.G702S(1) NUP107/LGR5(2) endometrium(2)|kidney(3)|large_intestine(2)|lung(24)|ovary(1)|pancreas(2)|prostate(1)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(3) 48 CCTGCTGGGTGGCAGCAAGTA 0.537000 178 125 0 0 0.000781405 0 0 OR5K1 26339 broad.mit.edu 37 3 98189267 98189267 + Missense_Mutation SNP C T T TCGA-EE-A3AC-06A-11D-A196-08 TCGA-EE-A3AC-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 883d623b-c427-4444-9ee3-66d18648130f f8f00311-8db5-4187-bcb8-5054d9fbdac3 g.chr3:98189267C>T uc003dsm.3 + 0 847 c.847C>T c.(847-849)Ccc>Tcc p.P283S NM_001004736 NP_001004736 Q8NHB7 OR5K1_HUMAN Homo sapiens olfactory receptor, family 5, subfamily K, member 1 (OR5K1), mRNA. 283 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity breast(1)|endometrium(1)|large_intestine(4)|lung(21)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 30 AATAGTAGTTCCCTTACTAAA 0.308000 19 15 0 0 0.00074312 0 0 PLXNB1 5364 broad.mit.edu 37 3 48462730 48462730 + Missense_Mutation SNP C T T TCGA-EE-A3AC-06A-11D-A196-08 TCGA-EE-A3AC-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 883d623b-c427-4444-9ee3-66d18648130f f8f00311-8db5-4187-bcb8-5054d9fbdac3 g.chr3:48462730C>T uc003csw.2 - 7 1987 c.1717G>A c.(1717-1719)Ggg>Agg p.G573R PLXNB1_uc003csu.2_Missense_Mutation_p.G573R|PLXNB1_uc003csx.2_Missense_Mutation_p.G573R|PLXNB1_uc010hjx.1_Non-coding_Transcript NM_002673 NP_002664 O43157 PLXB1_HUMAN Homo sapiens plexin B1 (PLXNB1), transcript variant 1, mRNA. 573 axon guidance|cell migration|intracellular signal transduction|regulation of cell shape|regulation of cytoskeleton organization|regulation of small GTPase mediated signal transduction|semaphorin-plexin signaling pathway extracellular region|integral to plasma membrane|intracellular|semaphorin receptor complex GTPase activator activity|semaphorin receptor activity|semaphorin receptor binding p.G573V(1) NS(1)|breast(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(6)|lung(10)|ovary(3)|pancreas(2)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(3) 47 BRCA - Breast invasive adenocarcinoma(193;0.000292)|KIRC - Kidney renal clear cell carcinoma(197;0.00549)|Kidney(197;0.00619) TGATGTTCCCCAAAGTGGCAG 0.612000 33 32 0 0 0.00128727 0 0 YTHDC2 64848 broad.mit.edu 37 5 112920076 112920076 + Missense_Mutation SNP G A A rs149701893 TCGA-EE-A3AC-06A-11D-A196-08 TCGA-EE-A3AC-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 883d623b-c427-4444-9ee3-66d18648130f f8f00311-8db5-4187-bcb8-5054d9fbdac3 g.chr5:112920076G>A uc003kqn.3 + 25 3927 c.3725G>A c.(3724-3726)cGa>cAa p.R1242Q NM_022828 NP_073739 Q9H6S0 YTDC2_HUMAN Homo sapiens YTH domain containing 2 (YTHDC2), mRNA. 1242 ATP binding|ATP-dependent helicase activity|nucleic acid binding NS(2)|central_nervous_system(2)|cervix(1)|endometrium(2)|kidney(6)|large_intestine(13)|lung(10)|pancreas(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(1) 43 all_cancers(142;7.69e-05)|all_epithelial(76;6.42e-07)|Colorectal(10;0.00278)|Prostate(80;0.00955)|Ovarian(225;0.0444)|Lung NSC(810;0.143)|all_lung(232;0.163)|Breast(839;0.244) OV - Ovarian serous cystadenocarcinoma(64;7.2e-08)|Epithelial(69;8.83e-08)|all cancers(49;6.9e-06)|COAD - Colon adenocarcinoma(37;0.0458)|Colorectal(14;0.0594) CATCCTAAACGAGGTACTGAG 0.448000 35 28 0 0 0.000878237 0 0 HARS 3035 broad.mit.edu 37 5 140056669 140056670 + Missense_Mutation DNP CC TT TT TCGA-EE-A3AC-06A-11D-A196-08 TCGA-EE-A3AC-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 883d623b-c427-4444-9ee3-66d18648130f f8f00311-8db5-4187-bcb8-5054d9fbdac3 g.chr5:140056669_140056670CC>TT uc003lgv.3 - 8 937_938 c.855_856GG>AA c.(853-858)caggat>caAAat p.D286N HARS_uc003lgu.3_Missense_Mutation_p.D217N|HARS_uc011czm.2_Missense_Mutation_p.D246N|HARS_uc003lgw.3_Missense_Mutation_p.D266N|HARS_uc011czn.2_Missense_Mutation_p.D226N|HARS_uc011czo.2_Missense_Mutation_p.D212N|HARS_uc011czp.2_Missense_Mutation_p.D172N|HARS_uc011czq.2_Missense_Mutation_p.D176N NM_002109 NP_002100 P12081 SYHC_HUMAN Homo sapiens histidyl-tRNA synthetase (HARS), mRNA. 286 histidyl-tRNA aminoacylation cytosol ATP binding|histidine-tRNA ligase activity NS(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(8)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2) 19 KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191) L-Histidine(DB00117) AGTTTAGGATCCTGGAGCAGCT 0.510000 142 85 0 0 6.4e-05 0 0 MED1 5469 broad.mit.edu 37 17 37580045 37580045 + Missense_Mutation SNP G A A TCGA-EE-A3AC-06A-11D-A196-08 TCGA-EE-A3AC-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 883d623b-c427-4444-9ee3-66d18648130f f8f00311-8db5-4187-bcb8-5054d9fbdac3 g.chr17:37580045G>A uc002hrv.4 - 11 1093 c.881C>T c.(880-882)gCc>gTc p.A294V MED1_uc010wee.2_Missense_Mutation_p.A122V|MED1_uc002hru.2_Missense_Mutation_p.A294V NM_004774 NP_004765 Q15648 MED1_HUMAN Homo sapiens mediator complex subunit 1 (MED1), mRNA. 294 Interaction with ESR1.|Interaction with the Mediator complex and THRA.|Interaction with the Mediator complex. androgen biosynthetic process|androgen receptor signaling pathway|cellular lipid metabolic process|fat cell differentiation|positive regulation of transcription from RNA polymerase II promoter|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor|transcription initiation from RNA polymerase II promoter mediator complex DNA binding|RNA polymerase II transcription cofactor activity|estrogen receptor binding|ligand-dependent nuclear receptor binding|ligand-dependent nuclear receptor transcription coactivator activity|peroxisome proliferator activated receptor binding|receptor activity|retinoic acid receptor binding|thyroid hormone receptor binding|vitamin D receptor binding NS(1)|breast(2)|cervix(3)|kidney(3)|large_intestine(7)|lung(25)|ovary(2)|pancreas(1)|prostate(1)|skin(6)|upper_aerodigestive_tract(7)|urinary_tract(1) 59 Ovarian(249;1.78e-06)|Lung SC(565;0.0262) Lung(15;0.0178)|LUAD - Lung adenocarcinoma(14;0.146) UCEC - Uterine corpus endometrioid carcinoma (308;6.64e-05)|BRCA - Breast invasive adenocarcinoma(366;0.00136)|READ - Rectum adenocarcinoma(1115;0.0649) AACACTGTTGGCACTGGTGAT 0.428000 HNSCC(31;0.082) 56 16 0 0 0.000958276 0 0 OR51G2 81282 broad.mit.edu 37 11 4936324 4936324 + Missense_Mutation SNP C T T TCGA-EE-A3AC-06A-11D-A196-08 TCGA-EE-A3AC-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 883d623b-c427-4444-9ee3-66d18648130f f8f00311-8db5-4187-bcb8-5054d9fbdac3 g.chr11:4936324C>T uc001lzr.1 - 0 570 c.570G>A c.(568-570)atG>atA p.M190I NM_001005238 NP_001005238 Q8NGK0 O51G2_HUMAN Homo sapiens olfactory receptor, family 51, subfamily G, member 2 (OR51G2), mRNA. 190 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity autonomic_ganglia(1)|endometrium(1)|large_intestine(9)|lung(12)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 29 Medulloblastoma(188;0.0075)|all_neural(188;0.0577)|Breast(177;0.086) Epithelial(150;5.06e-12)|BRCA - Breast invasive adenocarcinoma(625;0.00438)|LUSC - Lung squamous cell carcinoma(625;0.19) AGGCCAATTTCATCACTTCTT 0.448000 18 8 0 0 0.000157383 0 0 PCDHB1 29930 broad.mit.edu 37 5 140432252 140432252 + Silent SNP G A A TCGA-EE-A3AC-06A-11D-A196-08 TCGA-EE-A3AC-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 883d623b-c427-4444-9ee3-66d18648130f f8f00311-8db5-4187-bcb8-5054d9fbdac3 g.chr5:140432252G>A uc003lik.1 + 0 1274 c.1197G>A c.(1195-1197)ggG>ggA p.G399G NM_013340 NP_037472 Q9Y5F3 PCDB1_HUMAN Homo sapiens protocadherin beta 1 (PCDHB1), mRNA. 399 Cadherin 4. homophilic cell adhesion integral to membrane|plasma membrane calcium ion binding NS(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(16)|liver(1)|lung(13)|skin(4)|upper_aerodigestive_tract(4)|urinary_tract(1) 53 KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339) CTACATTTGGGAATTCTTACT 0.473000 60 24 0 0 0.000586117 0 0 PKHD1L1 93035 broad.mit.edu 37 8 110457572 110457572 + Missense_Mutation SNP A T T TCGA-EE-A3AC-06A-11D-A196-08 TCGA-EE-A3AC-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 883d623b-c427-4444-9ee3-66d18648130f f8f00311-8db5-4187-bcb8-5054d9fbdac3 g.chr8:110457572A>T uc003yne.3 + 37 5578 c.5474A>T c.(5473-5475)aAc>aTc p.N1825I NM_177531 NP_803875 Q86WI1 PKHL1_HUMAN Homo sapiens polycystic kidney and hepatic disease 1 (autosomal recessive)-like 1 (PKHD1L1), mRNA. 1825 IPT/TIG 10. 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) GCTCTGGGAAACCTGACTGTC 0.483000 HNSCC(38;0.096) 27 19 0 0 0.00074312 0 0 C9orf131 138724 broad.mit.edu 37 9 35044877 35044877 + Missense_Mutation SNP G A A TCGA-EE-A3AC-06A-11D-A196-08 TCGA-EE-A3AC-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 883d623b-c427-4444-9ee3-66d18648130f f8f00311-8db5-4187-bcb8-5054d9fbdac3 g.chr9:35044877G>A uc003zvw.3 + 1 2280 c.2251G>A c.(2251-2253)Gga>Aga p.G751R C9orf131_uc003zvu.3_Missense_Mutation_p.G703R|C9orf131_uc003zvv.3_Missense_Mutation_p.G678R|C9orf131_uc003zvx.3_Missense_Mutation_p.G716R NM_203299 NP_976044 Q5VYM1 CI131_HUMAN Homo sapiens chromosome 9 open reading frame 131 (C9orf131), transcript variant 1, mRNA. 751 cervix(1)|endometrium(3)|kidney(1)|large_intestine(6)|lung(23)|prostate(2)|skin(2)|stomach(1) 39 all_epithelial(49;0.22) LUSC - Lung squamous cell carcinoma(32;0.00117)|Lung(28;0.00309) TCTACCCAAGGGAGTAACGTG 0.607000 37 23 0 0 0.000375601 0 0 CDC25A 993 broad.mit.edu 37 3 48200940 48200940 + Missense_Mutation SNP C T T TCGA-EE-A3AC-06A-11D-A196-08 TCGA-EE-A3AC-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 883d623b-c427-4444-9ee3-66d18648130f f8f00311-8db5-4187-bcb8-5054d9fbdac3 g.chr3:48200940C>T uc003csh.1 - 13 1692 c.1328G>A c.(1327-1329)cGg>cAg p.R443Q CDC25A_uc003csi.1_Missense_Mutation_p.R403Q|CDC25A_uc021wxk.1_Missense_Mutation_p.R402Q NM_001789 NP_001780 P30304 MPIP1_HUMAN Homo sapiens cell division cycle 25 homolog A (S. pombe) (CDC25A), transcript variant 1, mRNA. 443 Rhodanese. DNA replication|G1/S transition of mitotic cell cycle|G2/M transition of mitotic cell cycle|S phase of mitotic cell cycle|cell cycle checkpoint|cell division|cell proliferation|cellular response to UV|mitosis|regulation of cyclin-dependent protein kinase activity cytosol|nucleoplasm protein binding|protein tyrosine phosphatase activity p.R443W(1) breast(1)|endometrium(2)|kidney(2)|large_intestine(4)|lung(9)|prostate(1)|skin(1) 20 BRCA - Breast invasive adenocarcinoma(193;0.000685)|KIRC - Kidney renal clear cell carcinoma(197;0.00596)|Kidney(197;0.00684) TCTCACATACCGGCACCTAGT 0.512000 22 16 0 0 0.000422831 0 0 RAI14 26064 broad.mit.edu 37 5 34823975 34823975 + Silent SNP C T T TCGA-EE-A3AC-06A-11D-A196-08 TCGA-EE-A3AC-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 883d623b-c427-4444-9ee3-66d18648130f f8f00311-8db5-4187-bcb8-5054d9fbdac3 g.chr5:34823975C>T uc003jis.3 + 16 2576 c.2037C>T c.(2035-2037)atC>atT p.I679I RAI14_uc003jir.3_Silent_p.I676I|RAI14_uc010iur.3_Silent_p.I647I|RAI14_uc011coj.2_Silent_p.I676I|RAI14_uc003jit.3_Silent_p.I676I|RAI14_uc011cok.2_Silent_p.I668I NM_001145525 NP_001138997 Q9P0K7 RAI14_HUMAN Homo sapiens retinoic acid induced 14 (RAI14), transcript variant 6, mRNA. 676 cell cortex|cytoskeleton protein binding breast(2)|central_nervous_system(1)|endometrium(2)|kidney(4)|large_intestine(19)|lung(22)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 56 all_lung(31;0.000191) CTGAATATATCCATAAAGCAG 0.448000 37 23 0 0 0.000720815 0 0 SOX7 83595 broad.mit.edu 37 8 10583712 10583712 + Missense_Mutation SNP G A A TCGA-EE-A3AC-06A-11D-A196-08 TCGA-EE-A3AC-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 883d623b-c427-4444-9ee3-66d18648130f f8f00311-8db5-4187-bcb8-5054d9fbdac3 g.chr8:10583712G>A uc011kwz.2 - 5 892 c.859C>T c.(859-861)Ccc>Tcc p.P287S SOX7_uc003wtf.3_Missense_Mutation_p.P235S NM_031439 NP_113627 Q9BT81 SOX7_HUMAN Homo sapiens SRY (sex determining region Y)-box 7 (SOX7), mRNA. 235 Sox C-terminal. endoderm formation|negative regulation of cell proliferation|negative regulation of transcription, DNA-dependent|positive regulation of caspase activity|regulation of canonical Wnt receptor signaling pathway cytoplasm|nucleus transcription regulatory region DNA binding breast(1)|endometrium(1)|kidney(1)|large_intestine(5)|lung(6)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 20 COAD - Colon adenocarcinoma(149;0.0732) GGCAGGTGGGGGATGCGGCGG 0.692000 12 18 0 0 0.000720815 0 0 MUC16 94025 broad.mit.edu 37 19 9090722 9090722 + Missense_Mutation SNP G A A TCGA-EE-A3AC-06A-11D-A196-08 TCGA-EE-A3AC-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 883d623b-c427-4444-9ee3-66d18648130f f8f00311-8db5-4187-bcb8-5054d9fbdac3 g.chr19:9090722G>A uc002mkp.3 - 0 1297 c.1093C>T c.(1093-1095)Ctt>Ttt p.L365F NM_024690 NP_078966 Q8WXI7 MUC16_HUMAN Homo sapiens mucin 16, cell surface associated (MUC16), mRNA. 365 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 TGGAAGGTAAGGATAGTCTCT 0.498000 13 9 0 0 0.000274275 0 0 CCDC158 339965 broad.mit.edu 37 4 77317607 77317607 + Missense_Mutation SNP G A A TCGA-EE-A3AC-06A-11D-A196-08 TCGA-EE-A3AC-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 883d623b-c427-4444-9ee3-66d18648130f f8f00311-8db5-4187-bcb8-5054d9fbdac3 g.chr4:77317607G>A uc003hkb.4 - 2 256 c.103C>T c.(103-105)Cgt>Tgt p.R35C CCDC158_uc003hkd.3_Missense_Mutation_p.R35C NM_001042784 NP_001036249 Q5M9N0 CD158_HUMAN Homo sapiens coiled-coil domain containing 158 (CCDC158), mRNA. 35 breast(1)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|lung(28)|ovary(3)|pancreas(1)|prostate(1)|skin(6)|stomach(1) 56 ATTGTACCACGAATAGATGAC 0.318000 44 28 0 0 0.000491102 0 0 PEG3 5178 broad.mit.edu 37 19 57329130 57329130 + Silent SNP G A A TCGA-EE-A3AC-06A-11D-A196-08 TCGA-EE-A3AC-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 883d623b-c427-4444-9ee3-66d18648130f f8f00311-8db5-4187-bcb8-5054d9fbdac3 g.chr19:57329130G>A uc002qnu.2 - 5 1197 c.846C>T c.(844-846)taC>taT p.Y282Y PEG3_uc010ygr.1_Intron|PEG3_uc010ygq.1_5'UTR|PEG3_uc002qnr.2_Intron|PEG3_uc010etp.2_Intron|PEG3_uc010ygs.1_Intron|PEG3_uc002qnq.2_Intron|PEG3_uc002qnt.2_Intron|PEG3_uc002qnv.2_Silent_p.Y282Y|PEG3_uc002qnw.2_Silent_p.Y158Y|PEG3_uc002qnx.2_Silent_p.Y156Y|PEG3_uc010etr.2_Silent_p.Y282Y NM_001146186 NP_001139657 Q9GZU2 PEG3_HUMAN Homo sapiens paternally expressed 3 (PEG3), transcript variant 4, mRNA. 282 apoptosis|viral reproduction cytoplasm|nucleus nucleic acid binding|sequence-specific DNA binding transcription factor activity|zinc ion binding NS(1)|biliary_tract(4)|breast(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(27)|lung(84)|ovary(8)|pancreas(5)|prostate(6)|skin(8)|stomach(2)|upper_aerodigestive_tract(6) 170 Colorectal(82;0.000256)|all_neural(62;0.103)|Ovarian(87;0.243) GBM - Glioblastoma multiforme(193;0.0269) TGGTGCTTGGGTAGGCACTTC 0.517000 25 18 0 0 0.000958276 0 0 CPAMD8 27151 broad.mit.edu 37 19 17091331 17091331 + Missense_Mutation SNP G A A TCGA-EE-A3AC-06A-11D-A196-08 TCGA-EE-A3AC-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 883d623b-c427-4444-9ee3-66d18648130f f8f00311-8db5-4187-bcb8-5054d9fbdac3 g.chr19:17091331G>A uc002nfb.3 - 13 1734 c.1702C>T c.(1702-1704)Cgt>Tgt p.R568C NM_015692 NP_056507 Q8IZJ3 CPMD8_HUMAN Homo sapiens C3 and PZP-like, alpha-2-macroglobulin domain containing 8 (CPAMD8), mRNA. 521 extracellular space|plasma membrane serine-type endopeptidase inhibitor activity breast(11)|central_nervous_system(3)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(17)|lung(14)|ovary(7)|pancreas(2)|prostate(4)|skin(5) 82 TGTGTTAAACGAATCGGTTTC 0.592000 34 24 0 0 0.00106085 0 0 OR8B4 283162 broad.mit.edu 37 11 124294185 124294185 + Missense_Mutation SNP C T T TCGA-EE-A3AC-06A-11D-A196-08 TCGA-EE-A3AC-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 883d623b-c427-4444-9ee3-66d18648130f f8f00311-8db5-4187-bcb8-5054d9fbdac3 g.chr11:124294185C>T uc010sak.2 - 0 583 c.583G>A c.(583-585)Gag>Aag p.E195K NM_001005196 NP_001005196 Q96RC9 OR8B4_HUMAN Homo sapiens olfactory receptor, family 8, subfamily B, member 4 (OR8B4), mRNA. 195 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity endometrium(1)|large_intestine(7)|lung(15)|ovary(1)|skin(6)|stomach(1)|urinary_tract(1) 32 Breast(109;0.0115)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|all_neural(223;0.224) BRCA - Breast invasive adenocarcinoma(274;1.49e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0279) AATACCAGCTCACTGACATGG 0.473000 9 6 0 0 0.000157383 0 0 RBM25 58517 broad.mit.edu 37 14 73538420 73538420 + Missense_Mutation SNP C T T TCGA-EE-A3AC-06A-11D-A196-08 TCGA-EE-A3AC-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 883d623b-c427-4444-9ee3-66d18648130f f8f00311-8db5-4187-bcb8-5054d9fbdac3 g.chr14:73538420C>T uc010ttu.2 + 2 347 c.71C>T c.(70-72)cCg>cTg p.P24L RBM25_uc001xnn.4_Missense_Mutation_p.P24L|RBM25_uc001xno.3_Missense_Mutation_p.P24L|RBM25_uc001xnp.3_5'UTR NM_021239 NP_067062 P49756 RBM25_HUMAN Homo sapiens RNA binding motif protein 25 (RBM25), mRNA. 24 RNA splicing|apoptosis|mRNA processing|regulation of alternative nuclear mRNA splicing, via spliceosome cytoplasm|nuclear speck mRNA binding|nucleotide binding|protein binding p.P24P(1) 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) ATCCCACCCCCGCAGTTTCCA 0.448000 45 29 0 0 0.000491102 0 0 LAMC1 3915 broad.mit.edu 37 1 183111717 183111717 + Missense_Mutation SNP C T T TCGA-EE-A3AC-06A-11D-A196-08 TCGA-EE-A3AC-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 883d623b-c427-4444-9ee3-66d18648130f f8f00311-8db5-4187-bcb8-5054d9fbdac3 g.chr1:183111717C>T uc001gpy.4 + 27 4879 c.4622C>T c.(4621-4623)aCc>aTc p.T1541I NM_002293 NP_002284 P11047 LAMC1_HUMAN Homo sapiens laminin, gamma 1 (formerly LAMB2) (LAMC1), mRNA. 1541 Domain II and I. axon guidance|cell migration|endoderm development|extracellular matrix disassembly|hemidesmosome assembly|positive regulation of epithelial cell proliferation|protein complex assembly|substrate adhesion-dependent cell spreading extracellular space|laminin-1 complex|laminin-10 complex|laminin-11 complex extracellular matrix structural constituent NS(2)|breast(5)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(17)|lung(27)|ovary(3)|prostate(2)|skin(3)|upper_aerodigestive_tract(3) 76 Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Tenecteplase(DB00031) ATTGAAGGCACCCTAAACAAA 0.453000 30 13 0 0 0.00185496 0 0 ATF7IP 55729 broad.mit.edu 37 12 14578282 14578282 + Missense_Mutation SNP C T T TCGA-EE-A3AC-06A-11D-A196-08 TCGA-EE-A3AC-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 883d623b-c427-4444-9ee3-66d18648130f f8f00311-8db5-4187-bcb8-5054d9fbdac3 g.chr12:14578282C>T uc001rbw.3 + 1 1591 c.1433C>T c.(1432-1434)cCa>cTa p.P478L ATF7IP_uc010shs.1_Missense_Mutation_p.P478L|ATF7IP_uc001rbu.3_Missense_Mutation_p.P478L|ATF7IP_uc001rbv.1_Missense_Mutation_p.P478L|ATF7IP_uc001rbx.3_Missense_Mutation_p.P478L|ATF7IP_uc010sht.1_Missense_Mutation_p.P478L|ATF7IP_uc001rby.4_Missense_Mutation_p.P478L|ATF7IP_uc001rbz.1_Missense_Mutation_p.P478L|ATF7IP_uc001rca.3_Missense_Mutation_p.P478L|ATF7IP_uc001rcb.3_Missense_Mutation_p.P89L NM_018179 NP_060649 Q6VMQ6 MCAF1_HUMAN Homo sapiens activating transcription factor 7 interacting protein (ATF7IP), mRNA. 478 Glu-rich. DNA methylation|interspecies interaction between organisms|positive regulation of transcription, DNA-dependent|regulation of RNA polymerase II transcriptional preinitiation complex assembly|transcription, DNA-dependent protein binding cervix(1)|endometrium(7)|kidney(5)|large_intestine(10)|liver(2)|lung(22)|ovary(1)|prostate(4)|skin(1)|urinary_tract(1) 54 TTTGGTTCACCATCTAAACAA 0.378000 36 22 0 0 0.000720815 0 0 STON1-GTF2A1L 286749 broad.mit.edu 37 2 48873824 48873824 + Silent SNP G A A TCGA-EE-A3AC-06A-11D-A196-08 TCGA-EE-A3AC-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 883d623b-c427-4444-9ee3-66d18648130f f8f00311-8db5-4187-bcb8-5054d9fbdac3 g.chr2:48873824G>A uc002rwp.2 + 7 2847 c.2733G>A c.(2731-2733)agG>agA p.R911R STON1-GTF2A1L_uc021vhf.1_Silent_p.R911R|STON1-GTF2A1L_uc010yol.2_Silent_p.R864R|STON1-GTF2A1L_uc002rws.2_Silent_p.R207R|STON1-GTF2A1L_uc010yom.2_Silent_p.R173R NM_172311 NP_758515 B7ZL16 B7ZL16_HUMAN Homo sapiens STON1-GTF2A1L readthrough (STON1-GTF2A1L), transcript variant 1, mRNA. 864 endocytosis|intracellular protein transport|transcription initiation from RNA polymerase II promoter clathrin adaptor complex|transcription factor TFIIA complex NS(1)|breast(1)|endometrium(2)|kidney(2)|large_intestine(22)|liver(2)|lung(49)|ovary(3)|pancreas(1)|prostate(4)|skin(4) 91 all_hematologic(82;0.151)|Acute lymphoblastic leukemia(82;0.176) Lung(47;0.101)|LUSC - Lung squamous cell carcinoma(58;0.151) CAGTAGATAGGAAACACTTAG 0.413000 33 25 0 0 0.000720815 0 0 INCENP 3619 broad.mit.edu 37 11 61908274 61908274 + Missense_Mutation SNP C T T TCGA-EE-A3AC-06A-11D-A196-08 TCGA-EE-A3AC-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 883d623b-c427-4444-9ee3-66d18648130f f8f00311-8db5-4187-bcb8-5054d9fbdac3 g.chr11:61908274C>T uc001nsw.1 + 8 1644 c.1442C>T c.(1441-1443)tCa>tTa p.S481L INCENP_uc009ynw.1_Missense_Mutation_p.S481L|INCENP_uc001nsx.1_Missense_Mutation_p.S481L NM_001040694 NP_001035784 Q9NQS7 INCE_HUMAN Homo sapiens inner centromere protein antigens 135/155kDa (INCENP), transcript variant 1, mRNA. 481 chromosome segregation|cytokinesis|mitotic prometaphase centromeric heterochromatin|condensed chromosome kinetochore|cytosol|microtubule|spindle protein binding breast(1)|endometrium(1)|kidney(6)|large_intestine(2)|lung(7)|skin(1)|upper_aerodigestive_tract(1) 19 ACCCCTTCCTCACCCTGCCCA 0.667000 17 15 0 0 0.00074312 0 0 MIA2 117153 broad.mit.edu 37 14 39706219 39706219 + Missense_Mutation SNP T G G TCGA-EE-A3AC-06A-11D-A196-08 TCGA-EE-A3AC-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 883d623b-c427-4444-9ee3-66d18648130f f8f00311-8db5-4187-bcb8-5054d9fbdac3 g.chr14:39706219T>G uc001wux.3 + 1 403 c.209T>G c.(208-210)gTt>gGt p.V70G MIA2_uc010amy.2_Missense_Mutation_p.L2V NM_054024 NP_473365 Q96PC5 MIA2_HUMAN Homo sapiens melanoma inhibitory activity 2 (MIA2), mRNA. 70 SH3. extracellular region NS(1)|breast(2)|cervix(1)|kidney(1)|large_intestine(6)|lung(13)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(2) 31 Hepatocellular(127;0.213) LUAD - Lung adenocarcinoma(48;0.000565)|Lung(238;0.000711) GBM - Glioblastoma multiforme(112;0.0216) TCTGTTTATGTTAAACTTGCA 0.378000 18 13 0 0 0.00185496 0 0 RBM12 10137 broad.mit.edu 37 20 34242629 34242629 + Missense_Mutation SNP G A A TCGA-EE-A3AC-06A-11D-A196-08 TCGA-EE-A3AC-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 883d623b-c427-4444-9ee3-66d18648130f f8f00311-8db5-4187-bcb8-5054d9fbdac3 g.chr20:34242629G>A uc021wcr.1 - 0 616 c.616C>T c.(616-618)Ccc>Tcc p.P206S CPNE1_uc010zvj.2_5'Flank|CPNE1_uc002xde.3_Intron|CPNE1_uc002xdf.3_Intron|CPNE1_uc002xdi.3_Intron|CPNE1_uc002xdj.3_Intron|CPNE1_uc002xdl.3_Intron|CPNE1_uc002xdm.3_Intron|CPNE1_uc010gfk.2_Intron|CPNE1_uc002xdn.1_Intron|CPNE1_uc002xdo.1_Intron|CPNE1_uc002xdp.1_Intron|RBM12_uc002xdq.3_Missense_Mutation_p.P206S|RBM12_uc002xds.3_Missense_Mutation_p.P206S|RBM12_uc002xdr.3_Missense_Mutation_p.P206S|RBM12_uc021wcq.1_Missense_Mutation_p.P206S NM_152838 NP_690051 Q9NTZ6 RBM12_HUMAN Homo sapiens RNA binding motif protein 12 (RBM12), transcript variant 2, mRNA. 206 Pro-rich. nucleus RNA binding|nucleotide binding|protein binding p.I205N(1) breast(3)|endometrium(7)|kidney(1)|large_intestine(3)|lung(14)|ovary(3)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 36 Lung NSC(9;0.00608)|all_lung(11;0.00918) BRCA - Breast invasive adenocarcinoma(18;0.00953) GGAATTGGGGGAATGGATGGC 0.577000 78 19 0 0 0.00152264 0 0 HIP1R 9026 broad.mit.edu 37 12 123343612 123343612 + Silent SNP C T T TCGA-EE-A3AC-06A-11D-A196-08 TCGA-EE-A3AC-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 883d623b-c427-4444-9ee3-66d18648130f f8f00311-8db5-4187-bcb8-5054d9fbdac3 g.chr12:123343612C>T uc001udj.1 + 21 2222 c.2163C>T c.(2161-2163)ctC>ctT p.L721L HIP1R_uc001udk.1_5'UTR NM_003959 NP_003950 O75146 HIP1R_HUMAN Homo sapiens huntingtin interacting protein 1 related (HIP1R), mRNA. 721 receptor-mediated endocytosis clathrin coated vesicle membrane|coated pit|perinuclear region of cytoplasm actin binding|phosphatidylinositol binding breast(1)|endometrium(5)|kidney(6)|large_intestine(2)|lung(6)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(3) 26 all_neural(191;0.0837)|Medulloblastoma(191;0.163) OV - Ovarian serous cystadenocarcinoma(86;4.6e-05)|Epithelial(86;0.000119)|BRCA - Breast invasive adenocarcinoma(302;0.2) CCCCAGGCCTCATAGACACCT 0.672000 3 4 0 0 0.00024832 0 0 DYNC1H1 1778 broad.mit.edu 37 14 102452744 102452744 + Nonsense_Mutation SNP C T T TCGA-EE-A3AC-06A-11D-A196-08 TCGA-EE-A3AC-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 883d623b-c427-4444-9ee3-66d18648130f f8f00311-8db5-4187-bcb8-5054d9fbdac3 g.chr14:102452744C>T uc001yks.2 + 7 2346 c.2182C>T c.(2182-2184)Cga>Tga p.R728* NM_001376 NP_001367 Q14204 DYHC1_HUMAN Homo sapiens dynein, cytoplasmic 1, heavy chain 1 (DYNC1H1), mRNA. 728 Interaction with DYNC1LI2 (By similarity).|Stem (By similarity). G2/M transition of mitotic cell cycle|cytoplasmic mRNA processing body assembly|microtubule-based movement|mitotic spindle organization|stress granule assembly|transport Golgi apparatus|centrosome|cytoplasmic dynein complex|cytosol|microtubule ATP binding|ATPase activity, coupled|microtubule motor activity|protein binding NS(1)|biliary_tract(1)|breast(4)|central_nervous_system(5)|cervix(1)|endometrium(21)|haematopoietic_and_lymphoid_tissue(3)|kidney(10)|large_intestine(28)|lung(60)|ovary(9)|pancreas(1)|prostate(6)|skin(7)|stomach(3)|upper_aerodigestive_tract(4)|urinary_tract(2) 166 GGTTCGGGGCCGAACTGGAAA 0.517000 27 20 0 0 0.00188189 0 0 IL31RA 133396 broad.mit.edu 37 5 55212722 55212722 + Missense_Mutation SNP C T T TCGA-EE-A3AC-06A-11D-A196-08 TCGA-EE-A3AC-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 883d623b-c427-4444-9ee3-66d18648130f f8f00311-8db5-4187-bcb8-5054d9fbdac3 g.chr5:55212722C>T uc003jql.3 + 14 2261 c.2069C>T c.(2068-2070)cCa>cTa p.P690L IL31RA_uc003jqm.3_Intron|IL31RA_uc003jqn.3_Intron|IL31RA_uc021xyq.1_Missense_Mutation_p.P671L|IL31RA_uc003jqo.3_Missense_Mutation_p.P548L NM_139017 NP_001229568 Q8NI17 IL31R_HUMAN Homo sapiens interleukin 31 receptor A (IL31RA), transcript variant 1, mRNA. 658 JAK-STAT cascade|MAPKKK cascade|anti-apoptosis|defense response|homeostatic process|macrophage differentiation|monocyte differentiation|negative regulation of macrophage activation|positive regulation of cell proliferation|positive regulation of transcription, DNA-dependent|positive regulation of tyrosine phosphorylation of Stat3 protein|positive regulation of tyrosine phosphorylation of Stat5 protein|transmembrane receptor protein tyrosine kinase signaling pathway integral to membrane|plasma membrane cytokine receptor activity|protein kinase binding|transcription coactivator activity endometrium(2)|kidney(2)|large_intestine(7)|lung(8)|ovary(1)|stomach(1) 21 Lung NSC(810;6.93e-05)|Prostate(74;0.00741)|Breast(144;0.0544)|Ovarian(174;0.223) GAGGAGCTCCCAGTTTCACCT 0.522000 33 22 0 0 0.00229938 0 0 VSIG2 23584 broad.mit.edu 37 11 124617497 124617497 + Silent SNP G A A TCGA-EE-A3AC-06A-11D-A196-08 TCGA-EE-A3AC-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 883d623b-c427-4444-9ee3-66d18648130f f8f00311-8db5-4187-bcb8-5054d9fbdac3 g.chr11:124617497G>A uc001qas.3 - 6 994 c.918C>T c.(916-918)ttC>ttT p.F306F NM_014312 NP_055127 Q96IQ7 VSIG2_HUMAN Homo sapiens V-set and immunoglobulin domain containing 2 (VSIG2), mRNA. 306 integral to plasma membrane|membrane fraction p.G305R(1) central_nervous_system(1)|cervix(1)|kidney(2)|large_intestine(2)|lung(8)|ovary(5) 19 all_hematologic(175;0.215) Breast(109;0.00663)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|all_neural(223;0.224) BRCA - Breast invasive adenocarcinoma(274;1.49e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0215) GTCTTTCCAGGAACCCCTTGC 0.562000 36 18 0 0 0.00121646 0 0 APOL2 23780 broad.mit.edu 37 22 36624020 36624020 + Silent SNP G A A TCGA-EE-A3AC-06A-11D-A196-08 TCGA-EE-A3AC-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 883d623b-c427-4444-9ee3-66d18648130f f8f00311-8db5-4187-bcb8-5054d9fbdac3 g.chr22:36624020G>A uc011amm.2 - 5 823 c.780C>T c.(778-780)ctC>ctT p.L260L APOL2_uc003aoz.3_Silent_p.L148L|APOL2_uc003apa.3_Silent_p.L148L NM_145637 NP_663612 Q9BQE5 APOL2_HUMAN Homo sapiens apolipoprotein L, 2 (APOL2), transcript variant beta, mRNA. 148 acute-phase response|cholesterol metabolic process|lipid transport|lipoprotein metabolic process|maternal process involved in female pregnancy|multicellular organismal development endoplasmic reticulum membrane|extracellular region high-density lipoprotein particle binding|lipid binding|receptor binding breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(2)|lung(1)|skin(1)|urinary_tract(2) 9 CAGTGTCCAAGAGCACAAAAC 0.562000 19 11 0 0 0.00136819 0 0 COL22A1 169044 broad.mit.edu 37 8 139788214 139788214 + Missense_Mutation SNP C T T TCGA-EE-A3AC-06A-11D-A196-08 TCGA-EE-A3AC-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 883d623b-c427-4444-9ee3-66d18648130f f8f00311-8db5-4187-bcb8-5054d9fbdac3 g.chr8:139788214C>T uc003yvd.3 - 15 2245 c.1798G>A c.(1798-1800)Gaa>Aaa p.E600K NM_152888 NP_690848 Q8NFW1 COMA1_HUMAN Homo sapiens collagen, type XXII, alpha 1 (COL22A1), mRNA. 600 Collagen-like 3.|Gly-rich.|Pro-rich. 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) AATACCTTTTCTCCTCGAGTT 0.483000 HNSCC(7;0.00092) 44 25 0 0 0.001512 0 0 LIMK1 3984 broad.mit.edu 37 7 73513457 73513457 + Missense_Mutation SNP T G G TCGA-EE-A3AC-06A-11D-A196-08 TCGA-EE-A3AC-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 883d623b-c427-4444-9ee3-66d18648130f f8f00311-8db5-4187-bcb8-5054d9fbdac3 g.chr7:73513457T>G uc003uaa.2 + 4 711 c.497T>G c.(496-498)gTg>gGg p.V166G LIMK1_uc010lbl.2_Non-coding_Transcript|LIMK1_uc003uab.3_Missense_Mutation_p.V132G|LIMK1_uc003uac.1_5'UTR NM_002314 NP_002305 P53667 LIMK1_HUMAN Homo sapiens LIM domain kinase 1 (LIMK1), transcript variant 1, mRNA. 166 PDZ. Rho protein signal transduction|actin cytoskeleton organization|axon guidance|negative regulation of ubiquitin-protein ligase activity|positive regulation of actin filament bundle assembly|positive regulation of axon extension cytosol|growth cone|nucleus ATP binding|heat shock protein binding|protein serine/threonine kinase activity|zinc ion binding breast(1)|central_nervous_system(2)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|ovary(1)|skin(1)|stomach(2)|upper_aerodigestive_tract(1) 21 Lung NSC(55;0.137) GTCACCCTGGTGTCCATCCCA 0.647000 59 41 0 0 0.000589545 0 0 EDN3 1908 broad.mit.edu 37 20 57876604 57876604 + Silent SNP G A A TCGA-EE-A3AC-06A-11D-A196-08 TCGA-EE-A3AC-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 883d623b-c427-4444-9ee3-66d18648130f f8f00311-8db5-4187-bcb8-5054d9fbdac3 g.chr20:57876604G>A uc002yap.3 + 1 561 c.192G>A c.(190-192)ggG>ggA p.G64G EDN3_uc002yao.1_Silent_p.G64G|EDN3_uc002yaq.3_Silent_p.G64G|EDN3_uc002yar.3_Silent_p.G64G|EDN3_uc002yas.3_Silent_p.G64G NM_000114 NP_996917 P14138 EDN3_HUMAN Homo sapiens endothelin 3 (EDN3), transcript variant 1, mRNA. 64 cell surface receptor linked signaling pathway|inositol phosphate-mediated signaling|neutrophil chemotaxis|peptide hormone secretion|positive regulation of MAP kinase activity|positive regulation of heart rate|positive regulation of hormone secretion|positive regulation of leukocyte chemotaxis|positive regulation of mitosis|regulation of systemic arterial blood pressure by endothelin|regulation of vasoconstriction|vein smooth muscle contraction extracellular space|soluble fraction endothelin B receptor binding|hormone activity endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|liver(1)|lung(9)|skin(2)|upper_aerodigestive_tract(2) 19 all_lung(29;0.0115) CTGGCGAGGGGACTGTGGCCC 0.711000 12 38 0 0 0.000814825 0 0 LTK 4058 broad.mit.edu 37 15 41799333 41799333 + Missense_Mutation SNP C T T TCGA-EE-A3AC-06A-11D-A196-08 TCGA-EE-A3AC-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 883d623b-c427-4444-9ee3-66d18648130f f8f00311-8db5-4187-bcb8-5054d9fbdac3 g.chr15:41799333C>T uc001zoa.3 - 10 1679 c.1501G>A c.(1501-1503)Ggt>Agt p.G501S LTK_uc001zob.3_Missense_Mutation_p.G440S|LTK_uc010ucx.1_Missense_Mutation_p.R401K|LTK_uc010bcg.2_Missense_Mutation_p.G199S NM_002344 NP_002335 P29376 LTK_HUMAN Homo sapiens leukocyte receptor tyrosine kinase (LTK), transcript variant 1, mRNA. 501 apoptosis|cell proliferation|phosphatidylinositol 3-kinase cascade|transmembrane receptor protein tyrosine kinase signaling pathway integral to plasma membrane|soluble fraction ATP binding|transmembrane receptor protein tyrosine kinase activity NS(1)|breast(1)|central_nervous_system(1)|kidney(1)|large_intestine(2)|lung(16)|skin(3)|urinary_tract(1) 26 all_cancers(109;1.89e-19)|all_epithelial(112;2.28e-16)|Lung NSC(122;5.34e-11)|all_lung(180;1.33e-09)|Melanoma(134;0.0179)|Ovarian(310;0.143)|Colorectal(260;0.172) OV - Ovarian serous cystadenocarcinoma(18;2.1e-17)|GBM - Glioblastoma multiforme(113;1.34e-06)|Colorectal(105;0.0148)|BRCA - Breast invasive adenocarcinoma(123;0.113) TCGGTGACACCTGGTGGCAGA 0.567000 TSP Lung(18;0.14) 42 18 0 0 0.000958276 0 0 AMPD1 270 broad.mit.edu 37 1 115222253 115222253 + Missense_Mutation SNP C T T TCGA-EE-A3AC-06A-11D-A196-08 TCGA-EE-A3AC-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 883d623b-c427-4444-9ee3-66d18648130f f8f00311-8db5-4187-bcb8-5054d9fbdac3 g.chr1:115222253C>T uc001efe.2 - 6 991 c.943G>A c.(943-945)Gag>Aag p.E315K AMPD1_uc001eff.2_Missense_Mutation_p.E311K NM_000036 NP_000027 P23109 AMPD1_HUMAN Homo sapiens adenosine monophosphate deaminase 1 (AMPD1), transcript variant 1, mRNA. 282 purine base metabolic process|purine ribonucleoside monophosphate biosynthetic process|purine-containing compound salvage cytosol AMP deaminase activity|metal ion binding NS(1)|breast(1)|endometrium(5)|kidney(1)|large_intestine(10)|lung(17)|ovary(3)|pancreas(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1) 45 all_epithelial(7;7.83e-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) Adenosine monophosphate(DB00131) TCCTTTAACTCGTCCATCTCG 0.428000 95 75 0 0 0.000781405 0 0 MLL 4297 broad.mit.edu 37 11 118374107 118374107 + Silent SNP C T T TCGA-EE-A3AC-06A-11D-A196-08 TCGA-EE-A3AC-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 883d623b-c427-4444-9ee3-66d18648130f f8f00311-8db5-4187-bcb8-5054d9fbdac3 g.chr11:118374107C>T uc001pta.3 + 26 7514 c.7491C>T c.(7489-7491)gtC>gtT p.V2497V MLL_uc001ptb.3_Silent_p.V2500V NM_005933 NP_005924 Q03164 MLL1_HUMAN Homo sapiens myeloid/lymphoid or mixed-lineage leukemia (trithorax homolog, Drosophila) (MLL), transcript variant 2, mRNA. 2497 apoptosis|embryonic hemopoiesis|histone H4-K16 acetylation|positive regulation of transcription, DNA-dependent|protein complex assembly|transcription from RNA polymerase II promoter MLL1 complex AT DNA binding|histone acetyl-lysine binding|histone methyltransferase activity (H3-K4 specific)|protein homodimerization activity|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|unmethylated CpG binding|zinc ion binding breast(5)|central_nervous_system(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(13)|large_intestine(29)|lung(34)|ovary(6)|pancreas(3)|prostate(8)|skin(6)|urinary_tract(19) 131 all_hematologic(175;0.046) all_hematologic(192;1.13e-50)|all_neural(223;3.18e-06)|Breast(348;1.07e-05)|Medulloblastoma(222;0.0425)|Hepatocellular(160;0.244) OV - Ovarian serous cystadenocarcinoma(223;2.77e-44)|BRCA - Breast invasive adenocarcinoma(274;1.2e-11)|Lung(307;3.48e-06)|LUSC - Lung squamous cell carcinoma(976;7.92e-05)|Colorectal(284;0.144) TGCCAGGAGTCCCCAAAGCTC 0.448000 """T, O""" """MLL, MLLT1, MLLT2, MLLT3, MLLT4, MLLT7, MLLT10, MLLT6, ELL, EPS15, AF1Q, CREBBP, SH3GL1, FNBP1, PNUTL1, MSF, GPHN, GMPS, SSH3BP1, ARHGEF12, GAS7, FOXO3A, LAF4, LCX, SEPT6, LPP, CBFA2T1, GRAF, EP300, PICALM, HEAB""" """AML, ALL""" 34 19 0 0 0.00152264 0 0 S100A9 6280 broad.mit.edu 37 1 153330863 153330863 + Missense_Mutation SNP G A A TCGA-EE-A3AC-06A-11D-A196-08 TCGA-EE-A3AC-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 883d623b-c427-4444-9ee3-66d18648130f f8f00311-8db5-4187-bcb8-5054d9fbdac3 g.chr1:153330863G>A uc001fbq.3 + 1 147 c.104G>A c.(103-105)gGg>gAg p.G35E NM_002965 NP_002956 P06702 S10A9_HUMAN Homo sapiens S100 calcium binding protein A9 (S100A9), mRNA. 35 EF-hand 1. cell-cell signaling cytoplasm|cytoskeleton|nucleus|plasma membrane calcium ion binding|protein binding|signal transducer activity breast(1)|endometrium(1)|large_intestine(2) 4 all_lung(78;2.81e-33)|Lung NSC(65;9.54e-32)|Hepatocellular(266;0.0877)|all_hematologic(923;0.127) LUSC - Lung squamous cell carcinoma(543;0.171) CTGAACCAGGGGGAATTCAAA 0.517000 29 14 0 0 0.000308642 0 0 KIAA2022 340533 broad.mit.edu 37 X 73962555 73962555 + Missense_Mutation SNP C T T TCGA-EE-A3AC-06A-11D-A196-08 TCGA-EE-A3AC-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 883d623b-c427-4444-9ee3-66d18648130f f8f00311-8db5-4187-bcb8-5054d9fbdac3 g.chrX:73962555C>T uc004eby.3 - 2 2454 c.1837G>A c.(1837-1839)Gaa>Aaa p.E613K NM_001008537 NP_001008537 Q5QGS0 K2022_HUMAN Homo sapiens KIAA2022 (KIAA2022), mRNA. 613 DNA replication proofreading|DNA replication, removal of RNA primer|S phase of mitotic cell cycle|base-excision repair, gap-filling|nucleotide-excision repair, DNA gap filling|regulation of mitotic cell cycle delta DNA polymerase complex 3'-5'-exodeoxyribonuclease activity|DNA-directed DNA polymerase activity breast(2)|central_nervous_system(2)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(23)|liver(1)|lung(41)|ovary(7)|pancreas(2)|prostate(4)|skin(9)|upper_aerodigestive_tract(2)|urinary_tract(3) 109 CTACCTGGTTCAAAGCTTTGC 0.453000 2 8 0 0 0.000157383 0 0 MYH3 4621 broad.mit.edu 37 17 10536071 10536071 + Missense_Mutation SNP G A A TCGA-EE-A3AC-06A-11D-A196-08 TCGA-EE-A3AC-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 883d623b-c427-4444-9ee3-66d18648130f f8f00311-8db5-4187-bcb8-5054d9fbdac3 g.chr17:10536071G>A uc002gmq.2 - 33 4766 c.4678C>T c.(4678-4680)Ctc>Ttc p.L1560F NM_002470 NP_002461 P11055 MYH3_HUMAN Homo sapiens myosin, heavy chain 3, skeletal muscle, embryonic (MYH3), mRNA. 1560 muscle filament sliding|muscle organ development cytosol|myofibril|myosin filament ATP binding|actin binding|calmodulin binding|microfilament motor activity breast(2)|central_nervous_system(2)|cervix(1)|endometrium(8)|kidney(5)|large_intestine(18)|lung(30)|ovary(4)|pancreas(1)|prostate(4)|skin(2)|upper_aerodigestive_tract(5)|urinary_tract(1) 83 TGGATTCGGAGGATCTTGGCT 0.448000 39 78 0 0 0.000781405 0 0 TMEM245 23731 broad.mit.edu 37 9 111812631 111812631 + Silent SNP G A A TCGA-EE-A3AC-06A-11D-A196-08 TCGA-EE-A3AC-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 883d623b-c427-4444-9ee3-66d18648130f f8f00311-8db5-4187-bcb8-5054d9fbdac3 g.chr9:111812631G>A uc004bdt.4 - 13 2087 c.2055C>T c.(2053-2055)agC>agT p.S685S TMEM245_uc022bln.1_Silent_p.S237S|TMEM245_uc004bds.4_Non-coding_Transcript NM_032012 NP_114401 Q9H330 CI005_HUMAN Homo sapiens chromosome 9 open reading frame 5 (C9orf5), mRNA. 685 integral to membrane GTGGAGTCAGGCTTATCACCC 0.393000 28 17 0 0 0.00152264 0 0 RPTOR 57521 broad.mit.edu 37 17 78931465 78931465 + Missense_Mutation SNP C T T TCGA-EE-A3AC-06A-11D-A196-08 TCGA-EE-A3AC-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 883d623b-c427-4444-9ee3-66d18648130f f8f00311-8db5-4187-bcb8-5054d9fbdac3 g.chr17:78931465C>T uc002jyt.1 + 28 4217 c.3412C>T c.(3412-3414)Ctc>Ttc p.L1138F RPTOR_uc010wug.1_Missense_Mutation_p.L980F|RPTOR_uc002jyu.1_Missense_Mutation_p.L31F NM_020761 NP_065812 Q8N122 RPTOR_HUMAN Homo sapiens regulatory associated protein of MTOR, complex 1 (RPTOR), transcript variant 1, mRNA. 1138 TOR signaling cascade|cell cycle arrest|cell growth|cellular response to amino acid stimulus|cellular response to nutrient levels|insulin receptor signaling pathway|positive regulation of TOR signaling cascade|positive regulation of protein serine/threonine kinase activity TORC1 complex|cytosol|lysosome protein complex binding breast(1)|endometrium(4)|kidney(1)|large_intestine(12)|lung(17)|ovary(3)|prostate(1)|skin(1)|stomach(1)|urinary_tract(3) 44 GACCGGCCTCCTCATGAGCTC 0.622000 76 110 0 0 0.000781405 0 0 TMEM92 162461 broad.mit.edu 37 17 48355984 48355985 + Missense_Mutation DNP CC TT TT TCGA-EE-A3AC-06A-11D-A196-08 TCGA-EE-A3AC-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 883d623b-c427-4444-9ee3-66d18648130f f8f00311-8db5-4187-bcb8-5054d9fbdac3 g.chr17:48355984_48355985CC>TT uc002iqn.2 + 3 273_274 c.163_164CC>TT c.(163-165)ccc>TTc p.P55F TMEM92_uc021tzz.1_Missense_Mutation_p.P55F NM_001168215 NP_694961 Q6UXU6 TMM92_HUMAN Homo sapiens transmembrane protein 92 (TMEM92), transcript variant 2, mRNA. 55 integral to membrane NS(1)|endometrium(2)|kidney(1)|large_intestine(1)|liver(1)|lung(1) 7 CTTCCCTGGCCCCGTGAGGTGA 0.634000 10 30 0 0 6.4e-05 0 0 ZNF362 149076 broad.mit.edu 37 1 33764608 33764608 + Silent SNP G A A TCGA-EE-A3AC-06A-11D-A196-08 TCGA-EE-A3AC-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 883d623b-c427-4444-9ee3-66d18648130f f8f00311-8db5-4187-bcb8-5054d9fbdac3 g.chr1:33764608G>A uc001bxc.1 + 8 1394 c.1224G>A c.(1222-1224)acG>acA p.T408T NM_152493 NP_689706 Q5T0B9 ZN362_HUMAN Homo sapiens zinc finger protein 362 (ZNF362), mRNA. 408 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding endometrium(3)|kidney(1)|large_intestine(4)|lung(2) 10 Myeloproliferative disorder(586;0.0255)|all_neural(195;0.211) CCCAGAGGACGGAGTCCCCCG 0.642000 OREG0013343 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 24 23 0 0 0.000878237 0 0 SELE 6401 broad.mit.edu 37 1 169696892 169696892 + Missense_Mutation SNP G A A TCGA-EE-A3AC-06A-11D-A196-08 TCGA-EE-A3AC-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 883d623b-c427-4444-9ee3-66d18648130f f8f00311-8db5-4187-bcb8-5054d9fbdac3 g.chr1:169696892G>A uc001ggm.4 - 8 1613 c.1456C>T c.(1456-1458)Cct>Tct p.P486S C1orf112_uc001ggj.3_Intron NM_000450 NP_000441 P16581 LYAM2_HUMAN Homo sapiens selectin E (SELE), mRNA. 486 Sushi 5. actin filament-based process|activation of phospholipase C activity|calcium-mediated signaling|heterophilic cell-cell adhesion|leukocyte migration involved in inflammatory response|leukocyte tethering or rolling|positive regulation of receptor internalization|regulation of inflammatory response|response to interleukin-1|response to lipopolysaccharide|response to tumor necrosis factor caveola|coated pit|cortical cytoskeleton|extracellular space|integral to membrane|perinuclear region of cytoplasm oligosaccharide binding|phospholipase binding|sialic acid binding|transmembrane receptor activity breast(1)|endometrium(1)|kidney(2)|large_intestine(5)|lung(12)|ovary(3)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(1) 32 all_hematologic(923;0.208) TGGCAGGAAGGAACCTCTTCT 0.448000 98 43 0 0 0.000781405 0 0 CUEDC1 404093 broad.mit.edu 37 17 55950091 55950091 + Silent SNP G A A rs148211596 byFrequency TCGA-EE-A3AC-06A-11D-A196-08 TCGA-EE-A3AC-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 883d623b-c427-4444-9ee3-66d18648130f f8f00311-8db5-4187-bcb8-5054d9fbdac3 g.chr17:55950091G>A uc002ivd.1 - 4 1436 c.717C>T c.(715-717)ttC>ttT p.F239F CUEDC1_uc002ive.1_Silent_p.F239F NM_017949 NP_060419 Q9NWM3 CUED1_HUMAN Homo sapiens CUE domain containing 1 (CUEDC1), mRNA. 239 endometrium(2)|kidney(1)|large_intestine(2)|lung(4)|skin(3) 12 CGTTCTGCAGGAAAAGCGCGA 0.637000 70 36 0 0 0.00148497 0 0 DNTT 1791 broad.mit.edu 37 10 98092170 98092170 + Silent SNP G A A TCGA-EE-A3AC-06A-11D-A196-08 TCGA-EE-A3AC-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 883d623b-c427-4444-9ee3-66d18648130f f8f00311-8db5-4187-bcb8-5054d9fbdac3 g.chr10:98092170G>A uc001kmf.3 + 8 1346 c.1176G>A c.(1174-1176)agG>agA p.R392R DNTT_uc001kmg.3_Silent_p.R392R NM_004088 NP_004079 P04053 TDT_HUMAN Homo sapiens deoxynucleotidyltransferase, terminal (DNTT), transcript variant 1, mRNA. 392 Mediates interaction with DNTTIP2. DNA modification nucleus DNA binding|DNA nucleotidylexotransferase activity|DNA-directed DNA polymerase activity|metal ion binding p.S391I(1) NS(1)|breast(1)|endometrium(3)|kidney(2)|large_intestine(8)|lung(6)|ovary(2)|prostate(1)|skin(2)|urinary_tract(1) 27 Colorectal(252;0.0815)|all_hematologic(284;0.224) Epithelial(162;7.97e-08)|all cancers(201;1.89e-06) TGCCTAGCAGGAAGGTTGATG 0.423000 56 31 0 0 0.00178596 0 0 CROCC 9696 broad.mit.edu 37 1 17272860 17272860 + Missense_Mutation SNP T C C TCGA-EE-A3AC-06A-11D-A196-08 TCGA-EE-A3AC-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 883d623b-c427-4444-9ee3-66d18648130f f8f00311-8db5-4187-bcb8-5054d9fbdac3 g.chr1:17272860T>C uc001azt.2 + 15 2312 c.2243T>C c.(2242-2244)cTt>cCt p.L748P CROCC_uc009voz.1_Missense_Mutation_p.L511P|CROCC_uc001azu.2_Missense_Mutation_p.L51P NM_014675 NP_055490 Q5TZA2 CROCC_HUMAN Homo sapiens ciliary rootlet coiled-coil, rootletin (CROCC), mRNA. 748 cell cycle|cell projection organization|centrosome organization|protein localization actin cytoskeleton|centriole|ciliary rootlet|plasma membrane kinesin binding|structural molecule activity breast(3)|central_nervous_system(2)|cervix(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(12)|large_intestine(1)|lung(20)|ovary(3)|prostate(9)|skin(3)|urinary_tract(1) 62 Colorectal(325;3.46e-05)|Breast(348;0.000162)|Lung NSC(340;0.000174)|all_lung(284;0.000234)|Renal(390;0.000518)|Ovarian(437;0.00669)|Myeloproliferative disorder(586;0.0255) UCEC - Uterine corpus endometrioid carcinoma (279;0.00459)|BRCA - Breast invasive adenocarcinoma(304;7.63e-06)|COAD - Colon adenocarcinoma(227;1.07e-05)|Kidney(64;0.000163)|KIRC - Kidney renal clear cell carcinoma(64;0.00258)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.181) AACGAGAGCCTTGCTCAGGAC 0.652000 59 22 0 0 0.000878237 0 0 FRG1B 284802 broad.mit.edu 37 20 29628299 29628299 + Missense_Mutation SNP A G G TCGA-EE-A3AC-06A-11D-A196-08 TCGA-EE-A3AC-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 883d623b-c427-4444-9ee3-66d18648130f f8f00311-8db5-4187-bcb8-5054d9fbdac3 g.chr20:29628299A>G uc010ztl.1 + 2 243 c.211A>G c.(211-213)Agt>Ggt p.S71G FRG1B_uc002wvm.1_Non-coding_Transcript|FRG1B_uc010ztj.1_Non-coding_Transcript|FRG1B_uc010gdr.1_Non-coding_Transcript|FRG1B_uc010ztk.1_Missense_Mutation_p.S23G Homo sapiens FSHD region gene 1 family, member B (FRG1B), non-coding RNA. endometrium(10)|kidney(21)|lung(3)|pancreas(1)|prostate(9)|urinary_tract(9) 53 AGAAGCAAAAAGTAAAACAGC 0.363000 58 5 0 0 0.000602214 0 0 SUGT1 10910 broad.mit.edu 37 13 53240968 53240969 + Missense_Mutation DNP CC TT TT TCGA-EE-A3AC-06A-11D-A196-08 TCGA-EE-A3AC-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 883d623b-c427-4444-9ee3-66d18648130f f8f00311-8db5-4187-bcb8-5054d9fbdac3 g.chr13:53240968_53240969CC>TT uc001vhc.2 + 10 862_863 c.637_638CC>TT c.(637-639)cct>TTt p.P213F SUGT1_uc001vhb.2_Missense_Mutation_p.P181F|SUGT1_uc010thb.1_Missense_Mutation_p.P125F NM_001130912 NP_001124384 Q9Y2Z0 SUGT1_HUMAN Homo sapiens SGT1, suppressor of G2 allele of SKP1 (S. cerevisiae) (SUGT1), transcript variant 1B, mRNA. 213 CS. mitosis kinetochore|ubiquitin ligase complex binding kidney(3)|large_intestine(3)|lung(2) 8 Lung NSC(96;0.00212)|Breast(56;0.00235)|Hepatocellular(98;0.065)|Prostate(109;0.0771)|all_neural(104;0.173) GBM - Glioblastoma multiforme(99;3.25e-08) GGTTAAACTTCCTTCTGGAGAG 0.322000 60 30 0 0 6.4e-05 0 0 GBP6 163351 broad.mit.edu 37 1 89851024 89851024 + Missense_Mutation SNP T C C TCGA-EE-A3AC-06A-11D-A196-08 TCGA-EE-A3AC-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 883d623b-c427-4444-9ee3-66d18648130f f8f00311-8db5-4187-bcb8-5054d9fbdac3 g.chr1:89851024T>C uc001dnf.2 + 10 2172 c.1898T>C c.(1897-1899)tTt>tCt p.F633S GBP6_uc010ost.1_Missense_Mutation_p.F503S NM_198460 NP_940862 Q6ZN66 GBP6_HUMAN Homo sapiens guanylate binding protein family, member 6 (GBP6), mRNA. 633 GTP binding|GTPase activity breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(11)|large_intestine(8)|lung(10)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1) 42 Lung NSC(277;0.0908) all cancers(265;0.0108)|Epithelial(280;0.0398) AAGCTCCCCTTTTAAGGATAT 0.333000 30 15 0 0 0.000566183 0 0 GALNTL1 57452 broad.mit.edu 37 14 69787427 69787427 + Splice_Site SNP G A A TCGA-EE-A3AC-06A-11D-A196-08 TCGA-EE-A3AC-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 883d623b-c427-4444-9ee3-66d18648130f f8f00311-8db5-4187-bcb8-5054d9fbdac3 g.chr14:69787427G>A uc001xlb.2 + 2 505 c.178_splice c.e2-1 p.V60_splice GALNTL1_uc001xla.2_Splice_Site_p.V60_splice|GALNTL1_uc010aqu.2_Splice_Site_p.V60_splice NM_020692 NP_065743 Q8N428 GLTL1_HUMAN Homo sapiens UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase-like 1 (GALNTL1), transcript variant 2, mRNA. 60 Golgi membrane|integral to membrane polypeptide N-acetylgalactosaminyltransferase activity|sugar binding NS(1)|central_nervous_system(1)|endometrium(3)|large_intestine(5)|lung(11)|ovary(1)|stomach(2) 24 all cancers(60;0.00793)|BRCA - Breast invasive adenocarcinoma(234;0.0174)|OV - Ovarian serous cystadenocarcinoma(108;0.0656) CTTCATCTCAGGTGACAGGAA 0.607000 63 47 0 0 0.000781405 0 0 OR4A47 403253 broad.mit.edu 37 11 48510798 48510798 + Silent SNP C T T TCGA-EE-A3AC-06A-11D-A196-08 TCGA-EE-A3AC-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 883d623b-c427-4444-9ee3-66d18648130f f8f00311-8db5-4187-bcb8-5054d9fbdac3 g.chr11:48510798C>T uc010rhx.2 + 0 454 c.454C>T c.(454-456)Ctg>Ttg p.L152L NM_001005512 NP_001005512 Q6IF82 O4A47_HUMAN Homo sapiens olfactory receptor, family 4, subfamily A, member 47 (OR4A47), mRNA. 152 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity NS(1)|breast(2)|endometrium(1)|kidney(1)|large_intestine(2)|lung(18)|ovary(1)|skin(1)|urinary_tract(2) 29 TGGAGGATTTCTGCACTCAGT 0.428000 24 8 0 0 0.000274275 0 0 WDFY3 23001 broad.mit.edu 37 4 85731436 85731436 + Missense_Mutation SNP C A A TCGA-EE-A3AC-06A-11D-A196-08 TCGA-EE-A3AC-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 883d623b-c427-4444-9ee3-66d18648130f f8f00311-8db5-4187-bcb8-5054d9fbdac3 g.chr4:85731436C>A uc003hpd.3 - 13 2357 c.1949G>T c.(1948-1950)gGa>gTa p.G650V WDFY3_uc003hpf.3_Missense_Mutation_p.G650V NM_014991 NP_055806 Q8IZQ1 WDFY3_HUMAN Homo sapiens WD repeat and FYVE domain containing 3 (WDFY3), mRNA. 650 cytoplasmic part|extrinsic to membrane|nuclear envelope 1-phosphatidylinositol binding|metal ion binding|protein binding breast(5)|central_nervous_system(5)|endometrium(15)|haematopoietic_and_lymphoid_tissue(3)|kidney(8)|large_intestine(32)|lung(50)|ovary(3)|prostate(5)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(2) 134 Hepatocellular(203;0.114) OV - Ovarian serous cystadenocarcinoma(123;0.000808) GTACACAAATCCTCCAACTTT 0.418000 14 9 1.12685e-05 5.15536e-05 0.000274275 1 0 C7orf69 80099 broad.mit.edu 37 7 47859110 47859110 + Missense_Mutation SNP C T T TCGA-EE-A3AC-06A-11D-A196-08 TCGA-EE-A3AC-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 883d623b-c427-4444-9ee3-66d18648130f f8f00311-8db5-4187-bcb8-5054d9fbdac3 g.chr7:47859110C>T uc003tnz.4 + 2 329 c.284C>T c.(283-285)aCc>aTc p.T95I PKD1L1_uc003tny.2_Intron|C7orf69_uc003toa.1_Intron|PKD1L1_uc003tob.3_Intron NM_025031 NP_079307 Q9H7B7 CG069_HUMAN Homo sapiens chromosome 7 open reading frame 69 (C7orf69), mRNA. 95 extracellular region lung(2) 2 CACAGCACCACCTACTGGCAC 0.418000 35 23 0 0 0.000586117 0 0 F11 2160 broad.mit.edu 37 4 187209625 187209625 + Silent SNP C T T TCGA-EE-A3AC-06A-11D-A196-08 TCGA-EE-A3AC-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 883d623b-c427-4444-9ee3-66d18648130f f8f00311-8db5-4187-bcb8-5054d9fbdac3 g.chr4:187209625C>T uc003iza.1 + 14 2068 c.1735C>T c.(1735-1737)Ctg>Ttg p.L579L LOC285441_uc003izb.2_Non-coding_Transcript NM_000128 NP_000119 P03951 FA11_HUMAN Homo sapiens coagulation factor XI (F11), mRNA. 579 Peptidase S1. blood coagulation, intrinsic pathway|plasminogen activation|positive regulation of fibrinolysis extracellular space|plasma membrane heparin binding|serine-type endopeptidase activity NS(2)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(5)|lung(15)|prostate(2)|skin(1)|stomach(2)|upper_aerodigestive_tract(1) 32 all_cancers(14;6.2e-52)|all_epithelial(14;1.62e-38)|all_lung(41;1.34e-13)|Lung NSC(41;3.58e-13)|Melanoma(20;1.91e-06)|Hepatocellular(41;0.00886)|Renal(120;0.00988)|Prostate(90;0.00996)|all_hematologic(60;0.014)|Colorectal(36;0.0161)|all_neural(102;0.202) OV - Ovarian serous cystadenocarcinoma(60;2.13e-11)|BRCA - Breast invasive adenocarcinoma(30;4.59e-06)|GBM - Glioblastoma multiforme(59;0.000149)|STAD - Stomach adenocarcinoma(60;0.000314)|LUSC - Lung squamous cell carcinoma(40;0.00112)|READ - Rectum adenocarcinoma(43;0.176) Coagulation Factor IX(DB00100) GGGAGGCCCTCTGTCCTGCAA 0.547000 72 56 0 0 0.000781405 0 0 SLC6A18 348932 broad.mit.edu 37 5 1239618 1239618 + Silent SNP C T T TCGA-EE-A3AC-06A-11D-A196-08 TCGA-EE-A3AC-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 883d623b-c427-4444-9ee3-66d18648130f f8f00311-8db5-4187-bcb8-5054d9fbdac3 g.chr5:1239618C>T uc003jby.2 + 5 909 c.786C>T c.(784-786)ttC>ttT p.F262F NM_182632 NP_872438 Q96N87 S6A18_HUMAN Homo sapiens solute carrier family 6, member 18 (SLC6A18), mRNA. 262 cellular nitrogen compound metabolic process integral to plasma membrane amino acid transmembrane transporter activity|neurotransmitter:sodium symporter activity endometrium(1)|kidney(2)|large_intestine(3)|lung(16)|ovary(1)|prostate(1)|skin(5)|stomach(4)|upper_aerodigestive_tract(1) 34 all_cancers(3;2.99e-16)|Lung NSC(6;8.55e-15)|all_lung(6;7.2e-14)|all_epithelial(6;1.76e-10) Epithelial(17;0.000356)|all cancers(22;0.00124)|OV - Ovarian serous cystadenocarcinoma(19;0.00239)|Lung(60;0.185) CCCAGATATTCTTCTCTCTGT 0.577000 68 38 0 0 0.000589545 0 0 GALNTL5 168391 broad.mit.edu 37 7 151716746 151716746 + Nonsense_Mutation SNP C T T TCGA-EE-A3AC-06A-11D-A196-08 TCGA-EE-A3AC-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 883d623b-c427-4444-9ee3-66d18648130f f8f00311-8db5-4187-bcb8-5054d9fbdac3 g.chr7:151716746C>T uc003wkp.3 + 8 1462 c.1192C>T c.(1192-1194)Cga>Tga p.R398* GALNTL5_uc010lqf.3_Nonsense_Mutation_p.R287*|GALNTL5_uc003wkq.3_Nonsense_Mutation_p.R149*|GALNTL5_uc003wkr.3_Non-coding_Transcript|GALNTL5_uc003wks.3_Non-coding_Transcript NM_145292 NP_660335 Q7Z4T8 GLTL5_HUMAN Homo sapiens UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase-like 5 (GALNTL5), transcript variant 1, mRNA. 398 Golgi membrane|integral to membrane transferase activity, transferring glycosyl groups NS(1)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(9)|lung(11)|ovary(2)|prostate(2)|skin(3) 32 all_neural(206;0.187) all_hematologic(28;0.0749) OV - Ovarian serous cystadenocarcinoma(82;0.00427) UCEC - Uterine corpus endometrioid carcinoma (81;0.18)|BRCA - Breast invasive adenocarcinoma(188;0.166) GTTTTTTCTTCGAAAGCCTGG 0.378000 48 34 0 0 0.00222228 0 0 ALDH1A1 216 broad.mit.edu 37 9 75531867 75531868 + Missense_Mutation DNP GG AA AA TCGA-EE-A3AC-06A-11D-A196-08 TCGA-EE-A3AC-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 883d623b-c427-4444-9ee3-66d18648130f f8f00311-8db5-4187-bcb8-5054d9fbdac3 g.chr9:75531867_75531868GG>AA uc004ajd.3 - 8 1320_1321 c.1003_1004CC>TT c.(1003-1005)cct>TTt p.P335F ALDH1A1_uc011lsh.2_Missense_Mutation_p.P256F|ALDH1A1_uc011lsg.2_Missense_Mutation_p.P161F NM_000689 NP_000680 P00352 AL1A1_HUMAN Homo sapiens aldehyde dehydrogenase 1 family, member A1 (ALDH1A1), mRNA. 335 cellular aldehyde metabolic process|ethanol oxidation|xenobiotic metabolic process cytosol Ras GTPase activator activity|aldehyde dehydrogenase (NAD) activity|androgen binding|retinal dehydrogenase activity breast(1)|endometrium(1)|kidney(2)|large_intestine(4)|lung(5)|ovary(3)|prostate(1) 17 NADH(DB00157)|Tretinoin(DB00755)|Vitamin A(DB00162) TGGGGTCAGAGGATTTCCAAGG 0.416000 30 20 0 0 6.4e-05 0 0 C12orf35 55196 broad.mit.edu 37 12 32133938 32133938 + Missense_Mutation SNP C T T TCGA-EE-A3AC-06A-11D-A196-08 TCGA-EE-A3AC-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 883d623b-c427-4444-9ee3-66d18648130f f8f00311-8db5-4187-bcb8-5054d9fbdac3 g.chr12:32133938C>T uc001rks.3 + 3 463 c.49C>T c.(49-51)Cct>Tct p.P17S NM_018169 NP_060639 Q9HCM1 CL035_HUMAN Homo sapiens chromosome 12 open reading frame 35 (C12orf35), mRNA. 17 NS(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(4)|kidney(4)|large_intestine(11)|lung(24)|ovary(2)|prostate(5)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2) 59 all_cancers(9;3.36e-11)|all_epithelial(9;2.56e-11)|all_lung(12;5.67e-10)|Acute lymphoblastic leukemia(23;0.0122)|Lung SC(12;0.0336)|all_hematologic(23;0.0429)|Esophageal squamous(101;0.204) OV - Ovarian serous cystadenocarcinoma(6;0.0114) ACCACTGTATCCTAAAAGCCA 0.378000 39 16 0 0 0.000422831 0 0 NFATC3 4775 broad.mit.edu 37 16 68225340 68225340 + Missense_Mutation SNP C T T rs3199162 TCGA-EE-A3AC-06A-11D-A196-08 TCGA-EE-A3AC-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 883d623b-c427-4444-9ee3-66d18648130f f8f00311-8db5-4187-bcb8-5054d9fbdac3 g.chr16:68225340C>T uc002evo.2 + 8 3084 c.2768C>T c.(2767-2769)gCt>gTt p.A923V NFATC3_uc010vkl.2_Missense_Mutation_p.A444V|NFATC3_uc010vkm.2_Missense_Mutation_p.A444V|NFATC3_uc010vkn.2_Missense_Mutation_p.A444V|NFATC3_uc010vko.2_Missense_Mutation_p.A444V|NFATC3_uc010vkp.2_Missense_Mutation_p.A444V|NFATC3_uc010vkq.2_Missense_Mutation_p.A444V|NFATC3_uc002evl.3_Missense_Mutation_p.A444V|NFATC3_uc002evk.3_Missense_Mutation_p.A923V|NFATC3_uc002evm.2_Missense_Mutation_p.A923V|NFATC3_uc002evn.2_Missense_Mutation_p.A923V|NFATC3_uc010vkr.2_Missense_Mutation_p.A444V|NFATC3_uc010vks.2_Missense_Mutation_p.A444V|NFATC3_uc010vkt.2_Missense_Mutation_p.A444V|NFATC3_uc010vku.2_Missense_Mutation_p.A444V|NFATC3_uc010vkv.2_Missense_Mutation_p.A444V|NFATC3_uc010vkw.2_Missense_Mutation_p.A444V|NFATC3_uc010vkx.2_Missense_Mutation_p.A444V|NFATC3_uc010vky.2_Missense_Mutation_p.A444V|NFATC3_uc010vkz.2_Missense_Mutation_p.A444V|NFATC3_uc010vla.2_Missense_Mutation_p.A444V|NFATC3_uc010vlb.2_Missense_Mutation_p.A444V|NFATC3_uc010vlc.2_Missense_Mutation_p.A444V NM_173165 NP_775188 Q12968 NFAC3_HUMAN Homo sapiens nuclear factor of activated T-cells, cytoplasmic, calcineurin-dependent 3 (NFATC3), transcript variant 1, mRNA. 923 A -> V (in Ref. 3; AAB46595/AAB46596/ AAB46597). inflammatory response|transcription from RNA polymerase II promoter nucleolus|plasma membrane DNA binding NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(7)|liver(1)|lung(19)|pancreas(1)|skin(3)|upper_aerodigestive_tract(2) 44 Ovarian(137;0.0563) OV - Ovarian serous cystadenocarcinoma(108;0.0119)|Epithelial(162;0.0452)|all cancers(182;0.24) TCAGGGTCTGCTACAACAGCT 0.502000 38 34 0 0 0.0024448 0 0 BTF3P11 690 broad.mit.edu 37 13 77502725 77502725 + RNA SNP C T T TCGA-EE-A3AC-06A-11D-A196-08 TCGA-EE-A3AC-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 883d623b-c427-4444-9ee3-66d18648130f f8f00311-8db5-4187-bcb8-5054d9fbdac3 g.chr13:77502725C>T uc001vkb.4 + 0 c.141C>T Homo sapiens basic transcription factor 3 pseudogene 11 (BTF3P11), non-coding RNA. CCCTGAAGTTCAGGCATCGCT 0.438000 13 9 0 0 0.000673444 0 0 GABRE 2564 broad.mit.edu 37 X 151124195 151124195 + Missense_Mutation SNP C T T TCGA-EE-A3AC-06A-11D-A196-08 TCGA-EE-A3AC-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 883d623b-c427-4444-9ee3-66d18648130f f8f00311-8db5-4187-bcb8-5054d9fbdac3 g.chrX:151124195C>T uc004ffi.3 - 6 976 c.922G>A c.(922-924)Gcc>Acc p.A308T GABRE_uc011myd.2_Non-coding_Transcript|GABRE_uc022cgw.1_5'Flank NM_004961 NP_004952 P78334 GBRE_HUMAN Homo sapiens gamma-aminobutyric acid (GABA) A receptor, epsilon (GABRE), mRNA. 308 gamma-aminobutyric acid signaling pathway cell junction|chloride channel complex|integral to plasma membrane|postsynaptic membrane GABA-A receptor activity|chloride channel activity|extracellular ligand-gated ion channel activity breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(9)|ovary(2)|skin(1) 27 Acute lymphoblastic leukemia(192;6.56e-05) GAGGTCCGGGCTGGAGCAGAC 0.527000 9 43 0 0 0.000680045 0 0 CPZ 8532 broad.mit.edu 37 4 8603046 8603046 + Silent SNP C T T TCGA-EE-A3AC-06A-11D-A196-08 TCGA-EE-A3AC-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 883d623b-c427-4444-9ee3-66d18648130f f8f00311-8db5-4187-bcb8-5054d9fbdac3 g.chr4:8603046C>T uc003glm.3 + 2 492 c.318C>T c.(316-318)gcC>gcT p.A106A CPZ_uc003gll.3_Non-coding_Transcript|CPZ_uc003glo.3_Silent_p.A95A|CPZ_uc003gln.3_5'UTR NM_001014447 NP_001014448 Q66K79 CBPZ_HUMAN Homo sapiens carboxypeptidase Z (CPZ), transcript variant 1, mRNA. 106 FZ. Wnt receptor signaling pathway|proteolysis proteinaceous extracellular matrix metallocarboxypeptidase activity|zinc ion binding cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(23)|ovary(3)|pancreas(1)|skin(1)|stomach(3)|upper_aerodigestive_tract(2)|urinary_tract(1) 46 CTGTGCTGGCCCCCCGGTGTG 0.687000 8 9 0 0 0.000274275 0 0 GABRB3 2562 broad.mit.edu 37 15 26793166 26793167 + Missense_Mutation DNP CC TT TT TCGA-EE-A3AC-06A-11D-A196-08 TCGA-EE-A3AC-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 883d623b-c427-4444-9ee3-66d18648130f f8f00311-8db5-4187-bcb8-5054d9fbdac3 g.chr15:26793166_26793167CC>TT uc001zbb.3 - 9 1466_1467 c.1363_1364GG>AA c.(1363-1365)gga>AAa p.G455K GABRB3_uc021sgg.1_Missense_Mutation_p.G328K|GABRB3_uc021sgh.1_Missense_Mutation_p.G314K|GABRB3_uc001zaz.3_Missense_Mutation_p.G399K|GABRB3_uc001zba.3_Missense_Mutation_p.G399K NM_001191320 NP_001178249 P28472 GBRB3_HUMAN Homo sapiens gamma-aminobutyric acid (GABA) A receptor, beta 3 (GABRB3), transcript variant 3, mRNA. 399 synaptic transmission cell junction|chloride channel complex|integral to plasma membrane|postsynaptic membrane GABA-A receptor activity|chloride channel activity|extracellular ligand-gated ion channel activity p.G399*(2)|p.V455L(1)|p.G455*(1) NS(2)|breast(1)|central_nervous_system(1)|cervix(4)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(11)|liver(1)|lung(41)|ovary(1)|skin(1)|upper_aerodigestive_tract(2) 68 all_cancers(20;1.89e-22)|all_lung(180;6.35e-15)|Breast(32;0.000279)|Colorectal(260;0.232) all cancers(64;1.46e-07)|Epithelial(43;2.89e-07)|BRCA - Breast invasive adenocarcinoma(123;0.0251)|COAD - Colon adenocarcinoma(236;0.235)|Lung(196;0.243) Ethchlorvynol(DB00189)|Flurazepam(DB00690)|Lorazepam(DB00186)|Midazolam(DB00683) GTACTGGATTCCTGAGTTGTCA 0.500000 48 27 0 0 6.4e-05 0 0 POLR1B 84172 broad.mit.edu 37 2 113304673 113304673 + Missense_Mutation SNP C T T TCGA-EE-A3AC-06A-11D-A196-08 TCGA-EE-A3AC-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 883d623b-c427-4444-9ee3-66d18648130f f8f00311-8db5-4187-bcb8-5054d9fbdac3 g.chr2:113304673C>T uc002thw.2 + 1 842 c.262C>T c.(262-264)Cca>Tca p.P88S POLR1B_uc010fkn.2_Intron|POLR1B_uc002thx.2_5'UTR|POLR1B_uc010fko.2_Missense_Mutation_p.P88S|POLR1B_uc010fkp.2_Intron|POLR1B_uc002thy.2_5'UTR|POLR1B_uc010yxo.1_Intron NM_019014 NP_061887 Q9H9Y6 RPA2_HUMAN Homo sapiens polymerase (RNA) I polypeptide B, 128kDa (POLR1B), transcript variant 1, mRNA. 88 termination of RNA polymerase I transcription|transcription elongation from RNA polymerase I promoter|transcription initiation from RNA polymerase I promoter nucleoplasm DNA binding|DNA-directed RNA polymerase activity|metal ion binding|protein binding|ribonucleoside binding p.P88S(2) breast(3)|endometrium(9)|kidney(2)|large_intestine(9)|lung(14)|ovary(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1) 42 ACCTACAGTTCCAAAAGGGAC 0.453000 35 27 0 0 0.001512 0 0 ADAMTS7 11173 broad.mit.edu 37 15 79064058 79064058 + Missense_Mutation SNP G A A TCGA-EE-A3AC-06A-11D-A196-08 TCGA-EE-A3AC-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 883d623b-c427-4444-9ee3-66d18648130f f8f00311-8db5-4187-bcb8-5054d9fbdac3 g.chr15:79064058G>A uc002bej.4 - 14 2456 c.2245C>T c.(2245-2247)Ctc>Ttc p.L749F ADAMTS7_uc010und.1_Intron|ADAMTS7_uc002bek.1_Missense_Mutation_p.L749F NM_014272 NP_055087 Q9UKP4 ATS7_HUMAN Homo sapiens ADAM metallopeptidase with thrombospondin type 1 motif, 7 (ADAMTS7), mRNA. 749 Spacer. proteolysis proteinaceous extracellular matrix metalloendopeptidase activity|zinc ion binding NS(1)|breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(2)|lung(23)|ovary(1)|prostate(8)|skin(9) 54 CCACCATTGAGGAAGTACTTC 0.642000 26 14 0 0 0.000308642 0 0 ARMC10 83787 broad.mit.edu 37 7 102716232 102716232 + Nonsense_Mutation SNP G T T TCGA-EE-A3AC-06A-11D-A196-08 TCGA-EE-A3AC-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 883d623b-c427-4444-9ee3-66d18648130f f8f00311-8db5-4187-bcb8-5054d9fbdac3 g.chr7:102716232G>T uc003vaw.2 + 1 540 c.148G>T c.(148-150)Gaa>Taa p.E50* FBXL13_uc003vaq.2_5'Flank|FBXL13_uc010lir.1_5'Flank|FBXL13_uc003var.2_5'Flank|FBXL13_uc003vas.2_5'Flank|FBXL13_uc003vav.2_5'Flank|ARMC10_uc003vay.2_Nonsense_Mutation_p.E50*|ARMC10_uc003vax.2_Intron|ARMC10_uc003vbb.2_Intron|ARMC10_uc011kli.2_Intron|ARMC10_uc010lis.2_Intron NM_031905 NP_114111 Q8N2F6 ARM10_HUMAN Homo sapiens armadillo repeat containing 10 (ARMC10), transcript variant A, mRNA. 50 regulation of growth endoplasmic reticulum membrane|integral to membrane binding NS(1)|breast(1)|central_nervous_system(1)|large_intestine(2)|lung(3)|ovary(1)|prostate(1)|urinary_tract(1) 11 AGGTGCCCTGGAAGAAGGGAC 0.607000 11 9 2.17888e-05 9.95411e-05 0.000442599 1 0 CNTN4 152330 broad.mit.edu 37 3 2777901 2777901 + Missense_Mutation SNP G A A TCGA-EE-A3AC-06A-11D-A196-08 TCGA-EE-A3AC-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 883d623b-c427-4444-9ee3-66d18648130f f8f00311-8db5-4187-bcb8-5054d9fbdac3 g.chr3:2777901G>A uc003bpc.3 + 4 397 c.58G>A c.(58-60)Gat>Aat p.D20N CNTN4_uc003bpb.1_5'UTR|CNTN4_uc021wsg.1_Missense_Mutation_p.D20N|CNTN4_uc003bpd.1_Missense_Mutation_p.D20N NM_175607 NP_783302 Q8IWV2 CNTN4_HUMAN Homo sapiens contactin 4 (CNTN4), transcript variant 1, mRNA. 20 axon guidance|axonal fasciculation|brain development|negative regulation of neuron differentiation|neuron cell-cell adhesion|regulation of synaptic plasticity anchored to membrane|axon|extracellular region|plasma membrane protein binding NS(1)|breast(4)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(14)|lung(19)|ovary(2)|pancreas(4)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(1) 61 Ovarian(110;0.156) Epithelial(13;0.000695)|all cancers(10;0.0047)|OV - Ovarian serous cystadenocarcinoma(96;0.01) CATTTCAGATGATTCCACACT 0.348000 112 73 0 0 0.000781405 0 0 NLRP13 126204 broad.mit.edu 37 19 56424493 56424493 + Silent SNP C T T TCGA-EE-A3AC-06A-11D-A196-08 TCGA-EE-A3AC-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 883d623b-c427-4444-9ee3-66d18648130f f8f00311-8db5-4187-bcb8-5054d9fbdac3 g.chr19:56424493C>T uc010ygg.2 - 4 715 c.690G>A c.(688-690)acG>acA p.T230T NM_176810 NP_789780 Q86W25 NAL13_HUMAN Homo sapiens NLR family, pyrin domain containing 13 (NLRP13), mRNA. 230 NACHT. ATP binding p.T230M(1) NS(2)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(13)|lung(58)|ovary(4)|pancreas(2)|prostate(2)|skin(13)|stomach(2)|urinary_tract(1) 109 Colorectal(82;3.48e-05)|Ovarian(87;0.0481)|Renal(1328;0.218) GBM - Glioblastoma multiforme(193;0.0642) CCAAGACTATCGTCTGGGCCT 0.522000 55 40 0 0 0.00195071 0 0 EPYC 1833 broad.mit.edu 37 12 91363872 91363872 + Silent SNP C T T TCGA-EE-A3AC-06A-11D-A196-08 TCGA-EE-A3AC-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 883d623b-c427-4444-9ee3-66d18648130f f8f00311-8db5-4187-bcb8-5054d9fbdac3 g.chr12:91363872C>T uc001tbk.3 - 5 840 c.747G>A c.(745-747)ttG>ttA p.L249L NM_004950 NP_004941 Q99645 EPYC_HUMAN Homo sapiens epiphycan (EPYC), mRNA. 249 female pregnancy proteinaceous extracellular matrix glycosaminoglycan binding NS(1)|breast(1)|endometrium(1)|large_intestine(5)|lung(8)|skin(2) 18 GGATGTGGTCCAAGTTGTTAT 0.443000 61 39 0 0 0.00195071 0 0 CATSPERD 257062 broad.mit.edu 37 19 5739416 5739416 + Missense_Mutation SNP G A A TCGA-EE-A3AC-06A-11D-A196-08 TCGA-EE-A3AC-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 883d623b-c427-4444-9ee3-66d18648130f f8f00311-8db5-4187-bcb8-5054d9fbdac3 g.chr19:5739416G>A uc002mda.3 + 6 600 c.539G>A c.(538-540)gGa>gAa p.G180E CATSPERD_uc010duj.1_5'UTR NM_152784 NP_689997 Q86XM0 TM146_HUMAN Homo sapiens transmembrane protein 146 (TMEM146), mRNA. 180 integral to membrane AATACTGGGGGATTCAGTTTT 0.303000 75 48 0 0 0.000781405 0 0 BAZ2B 29994 broad.mit.edu 37 2 160269054 160269054 + Silent SNP T C C TCGA-EE-A3AC-06A-11D-A196-08 TCGA-EE-A3AC-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 883d623b-c427-4444-9ee3-66d18648130f f8f00311-8db5-4187-bcb8-5054d9fbdac3 g.chr2:160269054T>C uc002uao.3 - 13 2874 c.2469A>G c.(2467-2469)ggA>ggG p.G823G BAZ2B_uc002uap.3_Silent_p.G787G|BAZ2B_uc002uaq.1_Silent_p.G653G|BAZ2B_uc002uar.1_Silent_p.G396G NM_013450 NP_038478 Q9UIF8 BAZ2B_HUMAN Homo sapiens bromodomain adjacent to zinc finger domain, 2B (BAZ2B), mRNA. 823 G -> E (in Ref. 1; BAA89212). regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|protein binding|zinc ion binding NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(11)|large_intestine(7)|liver(2)|lung(41)|ovary(3)|prostate(1)|skin(2)|soft_tissue(1)|urinary_tract(1) 82 ACCACTGCATTCCCTTTTAAT 0.328000 17 10 0 0 0.000673444 0 0 ZNF385B 151126 broad.mit.edu 37 2 180348096 180348096 + Silent SNP C T T TCGA-EE-A3AC-06A-11D-A196-08 TCGA-EE-A3AC-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 883d623b-c427-4444-9ee3-66d18648130f f8f00311-8db5-4187-bcb8-5054d9fbdac3 g.chr2:180348096C>T uc002unn.4 - 5 1177 c.573G>A c.(571-573)acG>acA p.T191T ZNF385B_uc002unj.3_Silent_p.T89T|ZNF385B_uc002unl.3_Silent_p.T88T|ZNF385B_uc002unk.3_Non-coding_Transcript|ZNF385B_uc002unm.3_Silent_p.T115T NM_152520 NP_001106869 Q569K4 Z385B_HUMAN Homo sapiens zinc finger protein 385B (ZNF385B), transcript variant 1, mRNA. 191 nucleus nucleic acid binding|zinc ion binding p.T191T(2)|p.T191M(1) breast(1)|kidney(1)|large_intestine(6)|lung(11)|ovary(1)|skin(4)|upper_aerodigestive_tract(2) 26 Epithelial(96;0.174)|OV - Ovarian serous cystadenocarcinoma(117;0.201) GTTTATTTTTCGTTGCGTCTA 0.468000 34 15 0 0 0.000422831 0 0 TTC27 55622 broad.mit.edu 37 2 33003043 33003043 + Missense_Mutation SNP C T T TCGA-EE-A3AC-06A-11D-A196-08 TCGA-EE-A3AC-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 883d623b-c427-4444-9ee3-66d18648130f f8f00311-8db5-4187-bcb8-5054d9fbdac3 g.chr2:33003043C>T uc002rom.3 + 13 2048 c.1775C>T c.(1774-1776)cCc>cTc p.P592L TTC27_uc010ymx.2_Missense_Mutation_p.P542L NM_017735 NP_001180438 Q6P3X3 TTC27_HUMAN Homo sapiens tetratricopeptide repeat domain 27 (TTC27), transcript variant 1, mRNA. 592 protein binding breast(1)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(9)|lung(14)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1) 38 ACTCTAGAACCCGATGTAAGT 0.438000 22 13 0 0 0.000219431 0 0 KDM2B 84678 broad.mit.edu 37 12 121970772 121970772 + Silent SNP G A A TCGA-EE-A3AC-06A-11D-A196-08 TCGA-EE-A3AC-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 883d623b-c427-4444-9ee3-66d18648130f f8f00311-8db5-4187-bcb8-5054d9fbdac3 g.chr12:121970772G>A uc001uat.3 - 7 974 c.870C>T c.(868-870)gaC>gaT p.D290D KDM2B_uc001uas.3_Silent_p.D259D|KDM2B_uc021rfd.1_Silent_p.D259D|KDM2B_uc001uau.3_Silent_p.D173D|KDM2B_uc021rfe.1_Silent_p.D290D|KDM2B_uc001uav.4_Intron NM_032590 NP_115979 Q8NHM5 KDM2B_HUMAN Homo sapiens lysine (K)-specific demethylase 2B (KDM2B), transcript variant 1, mRNA. 290 JmjC. embryonic camera-type eye morphogenesis|fourth ventricle development|histone H2A monoubiquitination|initiation of neural tube closure|lateral ventricle development|midbrain development|midbrain-hindbrain boundary morphogenesis|negative regulation of neural precursor cell proliferation|negative regulation of neuron apoptosis|negative regulation of transcription from RNA polymerase II promoter|spermatogenesis|third ventricle development|transcription, DNA-dependent nucleolus DNA binding|histone demethylase activity (H3-K36 specific)|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|protein binding|rRNA binding|zinc ion binding breast(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(8)|ovary(1)|prostate(1)|skin(1)|urinary_tract(1) 19 GTTCCACACGGTCTCCCAGAA 0.527000 30 26 0 0 0.000720815 0 0 SERPINA7 6906 broad.mit.edu 37 X 105280593 105280593 + Missense_Mutation SNP G A A TCGA-EE-A3AC-06A-11D-A196-08 TCGA-EE-A3AC-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 883d623b-c427-4444-9ee3-66d18648130f f8f00311-8db5-4187-bcb8-5054d9fbdac3 g.chrX:105280593G>A uc010npd.3 - 0 692 c.457C>T c.(457-459)Ctc>Ttc p.L153F SERPINA7_uc004eme.2_Missense_Mutation_p.L153F|SERPINA7_uc010npe.2_Missense_Mutation_p.L153F NM_000354 NP_000345 P05543 THBG_HUMAN Homo sapiens serpin peptidase inhibitor, clade A (alpha-1 antiproteinase, antitrypsin), member 7 (SERPINA7), mRNA. 153 regulation of proteolysis extracellular space serine-type endopeptidase inhibitor activity endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(14)|ovary(1)|skin(3) 24 Levothyroxine(DB00451)|Liothyronine(DB00279) GTCTCATAGAGGGTCTTGACA 0.428000 8 35 0 0 0.000953801 0 0 NYAP2 57624 broad.mit.edu 37 2 226447249 226447249 + Missense_Mutation SNP G A A TCGA-EE-A3AC-06A-11D-A196-08 TCGA-EE-A3AC-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 883d623b-c427-4444-9ee3-66d18648130f f8f00311-8db5-4187-bcb8-5054d9fbdac3 g.chr2:226447249G>A uc002voe.2 + 3 1291 c.1116G>A c.(1114-1116)atG>atA p.M372I NYAP2_uc010fxa.1_Intron|NYAP2_uc002vof.1_Missense_Mutation_p.M142I NM_020864 NP_065915 Q9P242 K1486_HUMAN Homo sapiens neuronal tyrosine-phosphorylated phosphoinositide-3-kinase adaptor 2 (NYAP2), mRNA. 372 Pro-rich. TGTCTTACATGAAACAGCCAG 0.667000 12 5 0 0 0.00116845 0 0 PTPRB 5787 broad.mit.edu 37 12 70918314 70918314 + Missense_Mutation SNP G A A TCGA-EE-A3AC-06A-11D-A196-08 TCGA-EE-A3AC-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 883d623b-c427-4444-9ee3-66d18648130f f8f00311-8db5-4187-bcb8-5054d9fbdac3 g.chr12:70918314G>A uc001swb.4 - 30 5938 c.5908C>T c.(5908-5910)Cgg>Tgg p.R1970W BC031864_uc001svz.3_Intron|PTPRB_uc010sto.2_Missense_Mutation_p.R1880W|PTPRB_uc010stp.2_Missense_Mutation_p.R1880W|PTPRB_uc001swc.4_Missense_Mutation_p.R2188W|PTPRB_uc001swa.4_Missense_Mutation_p.R2100W NM_002837 NP_002828 P23467 PTPRB_HUMAN Homo sapiens protein tyrosine phosphatase, receptor type, B (PTPRB), transcript variant 2, mRNA. 1970 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) TGTTCACTCCGTAGCTTTCTT 0.438000 17 13 0 0 0.000308642 0 0 FASN 2194 broad.mit.edu 37 17 80040272 80040272 + Silent SNP G A A TCGA-EE-A3AC-06A-11D-A196-08 TCGA-EE-A3AC-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 883d623b-c427-4444-9ee3-66d18648130f f8f00311-8db5-4187-bcb8-5054d9fbdac3 g.chr17:80040272G>A uc002kdu.3 - 34 6055 c.5938C>T c.(5938-5940)Ctg>Ttg p.L1980L FASN_uc002kdv.1_5'Flank NM_004104 NP_004095 P49327 FAS_HUMAN Homo sapiens fatty acid synthase (FASN), mRNA. 1980 Beta-ketoacyl reductase (By similarity). energy reserve metabolic process|fatty acid biosynthetic process|long-chain fatty-acyl-CoA biosynthetic process|pantothenate metabolic process|positive regulation of cellular metabolic process|triglyceride biosynthetic process Golgi apparatus|cytosol|melanosome|plasma membrane 3-hydroxypalmitoyl-[acyl-carrier-protein] dehydratase activity|3-oxoacyl-[acyl-carrier-protein] reductase (NADPH) activity|3-oxoacyl-[acyl-carrier-protein] synthase activity|[acyl-carrier-protein] S-acetyltransferase activity|[acyl-carrier-protein] S-malonyltransferase activity|acyl carrier activity|cofactor binding|enoyl-[acyl-carrier-protein] reductase (NADPH, B-specific) activity|myristoyl-[acyl-carrier-protein] hydrolase activity|oleoyl-[acyl-carrier-protein] hydrolase activity|palmitoyl-[acyl-carrier-protein] hydrolase activity|phosphopantetheine binding|protein binding|zinc ion binding central_nervous_system(3)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(1)|lung(12)|prostate(3)|skin(2)|urinary_tract(1) 34 all_neural(118;0.0878)|Ovarian(332;0.227)|all_lung(278;0.246) OV - Ovarian serous cystadenocarcinoma(97;0.0211)|BRCA - Breast invasive adenocarcinoma(99;0.0237) Cerulenin(DB01034)|Orlistat(DB01083)|Pyrazinamide(DB00339) TGGTTCTCCAGCAAGCCATCT 0.647000 24 11 0 0 0.00136819 0 0 TSSC1 7260 broad.mit.edu 37 2 3196249 3196249 + Missense_Mutation SNP G A A TCGA-EE-A3AC-06A-11D-A196-08 TCGA-EE-A3AC-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 883d623b-c427-4444-9ee3-66d18648130f f8f00311-8db5-4187-bcb8-5054d9fbdac3 g.chr2:3196249G>A uc002qxj.2 - 7 1118 c.925C>T c.(925-927)Ccc>Tcc p.P309S TSSC1_uc002qxi.2_Non-coding_Transcript NM_003310 NP_003301 Q53HC9 TSSC1_HUMAN Homo sapiens tumor suppressing subtransferable candidate 1 (TSSC1), mRNA. 309 protein binding breast(2)|kidney(2)|large_intestine(3)|lung(9)|prostate(1)|skin(1) 18 Acute lymphoblastic leukemia(172;0.0627)|all_hematologic(175;0.093) all_cancers(51;0.212) OV - Ovarian serous cystadenocarcinoma(76;0.00877)|Epithelial(75;0.0283)|all cancers(51;0.0464) TGGCCGAAGGGCTCCGACGAG 0.572000 39 24 0 0 0.000720815 0 0 TRPM3 80036 broad.mit.edu 37 9 73151427 73151427 + Silent SNP G A A TCGA-EE-A3AC-06A-11D-A196-08 TCGA-EE-A3AC-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 883d623b-c427-4444-9ee3-66d18648130f f8f00311-8db5-4187-bcb8-5054d9fbdac3 g.chr9:73151427G>A uc004aid.3 - 24 4810 c.4566C>T c.(4564-4566)agC>agT p.S1522S TRPM3_uc004ahu.3_Silent_p.S1364S|TRPM3_uc004ahv.3_Silent_p.S1324S|TRPM3_uc004ahw.3_Silent_p.S1394S|TRPM3_uc004ahx.3_Silent_p.S1381S|TRPM3_uc004ahy.3_Silent_p.S1384S|TRPM3_uc004ahz.3_Silent_p.S1371S|TRPM3_uc004aia.3_Silent_p.S1369S|TRPM3_uc004aib.3_Silent_p.S1359S|TRPM3_uc004aic.3_Intron NM_001007471 NP_066003 Q9HCF6 TRPM3_HUMAN Homo sapiens transient receptor potential cation channel, subfamily M, member 3 (TRPM3), transcript variant 9, mRNA. 1547 integral to membrane calcium channel activity p.T1522T(1) NS(2)|breast(4)|central_nervous_system(2)|endometrium(6)|kidney(1)|large_intestine(18)|liver(1)|lung(46)|ovary(3)|pancreas(2)|prostate(5)|skin(4)|urinary_tract(1) 95 AAAACATAAAGCTATGAGATT 0.458000 55 40 0 0 0.00222228 0 0 SDR42E1 93517 broad.mit.edu 37 16 82033703 82033703 + Silent SNP C T T TCGA-EE-A3AC-06A-11D-A196-08 TCGA-EE-A3AC-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 883d623b-c427-4444-9ee3-66d18648130f f8f00311-8db5-4187-bcb8-5054d9fbdac3 g.chr16:82033703C>T uc002fgu.3 - 2 323 c.195G>A c.(193-195)gaG>gaA p.E65E NM_145168 NP_660151 Q8WUS8 D42E1_HUMAN Homo sapiens short chain dehydrogenase/reductase family 42E, member 1 (SDR42E1), mRNA. 65 steroid biosynthetic process integral to membrane 3-beta-hydroxy-delta5-steroid dehydrogenase activity|binding NS(2)|endometrium(1)|lung(4)|skin(3) 10 GGAAGGCTTTCTCTACGTCAG 0.473000 89 42 0 0 0.00195071 0 0 GPR113 165082 broad.mit.edu 37 2 26534031 26534031 + Silent SNP G A A TCGA-EE-A3AC-06A-11D-A196-08 TCGA-EE-A3AC-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 883d623b-c427-4444-9ee3-66d18648130f f8f00311-8db5-4187-bcb8-5054d9fbdac3 g.chr2:26534031G>A uc002rhe.4 - 10 2565 c.2565C>T c.(2563-2565)acC>acT p.T855T GPR113_uc010yky.1_Silent_p.T786T|GPR113_uc002rhb.1_Silent_p.T458T|GPR113_uc010eyk.1_Silent_p.T656T|GPR113_uc002rhc.1_Silent_p.T458T|GPR113_uc002rhd.1_Non-coding_Transcript NM_001145168 NP_001138640 Q8IZF5 GP113_HUMAN Homo sapiens G protein-coupled receptor 113 (GPR113), transcript variant 1, mRNA. 855 neuropeptide signaling pathway integral to membrane|plasma membrane G-protein coupled receptor activity NS(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(5)|ovary(4)|prostate(2)|skin(1)|stomach(1)|urinary_tract(1) 24 Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215) TCCAGAAAAAGGTGGCCAGGT 0.617000 7 4 0 0 0.00024832 0 0 HTR2C 3358 broad.mit.edu 37 X 114141204 114141204 + Silent SNP C T T TCGA-EE-A3AC-06A-11D-A196-08 TCGA-EE-A3AC-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 883d623b-c427-4444-9ee3-66d18648130f f8f00311-8db5-4187-bcb8-5054d9fbdac3 g.chrX:114141204C>T uc004epu.1 + 5 1331 c.603C>T c.(601-603)ttC>ttT p.F201F HTR2C_uc010nqc.1_Silent_p.F201F|HTR2C_uc004epv.1_Missense_Mutation_p.R170C NM_000868 NP_000859 P28335 5HT2C_HUMAN Homo sapiens 5-hydroxytryptamine (serotonin) receptor 2C (HTR2C), mRNA. 201 ERK1 and ERK2 cascade|cGMP biosynthetic process|feeding behavior|phosphatidylinositol biosynthetic process|release of sequestered calcium ion into cytosol|response to drug|synaptic transmission cytoplasm|integral to membrane|nucleus|plasma membrane 1-(4-iodo-2,5-dimethoxyphenyl)propan-2-amine binding|drug binding|phosphatidylinositol phospholipase C activity|protein binding|serotonin binding|serotonin receptor activity breast(1)|central_nervous_system(2)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(9)|lung(15)|ovary(4)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2) 50 Chlorprothixene(DB01239)|Clozapine(DB00363)|Dexfenfluramine(DB01191)|Fenfluramine(DB00574)|Methysergide(DB00247)|Mianserin(DB06148)|Minaprine(DB00805)|Mirtazapine(DB00370)|Olanzapine(DB00334)|Promazine(DB00420)|Propiomazine(DB00777)|Quetiapine(DB01224)|Sertindole(DB06144)|Thiethylperazine(DB00372)|Tramadol(DB00193)|Ziprasidone(DB00246) AAAAGGTGTTCGTGAACAACA 0.448000 8 43 0 0 0.000589545 0 0 TRPV4 59341 broad.mit.edu 37 12 110232206 110232206 + Silent SNP G A A TCGA-EE-A3AC-06A-11D-A196-08 TCGA-EE-A3AC-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 883d623b-c427-4444-9ee3-66d18648130f f8f00311-8db5-4187-bcb8-5054d9fbdac3 g.chr12:110232206G>A uc001tpj.2 - 6 1514 c.1419C>T c.(1417-1419)atC>atT p.I473I TRPV4_uc001tpg.2_Silent_p.I439I|TRPV4_uc021rdp.1_Silent_p.I413I|TRPV4_uc001tph.2_Silent_p.I426I|TRPV4_uc001tpi.2_Silent_p.I366I|TRPV4_uc001tpk.2_Silent_p.I473I NM_021625 NP_067638 Q9HBA0 TRPV4_HUMAN Homo sapiens transient receptor potential cation channel, subfamily V, member 4 (TRPV4), transcript variant 1, mRNA. 473 actin cytoskeleton reorganization|actin filament organization|calcium ion import|cell death|cell volume homeostasis|cell-cell junction assembly|cellular hypotonic response|cortical microtubule organization|elevation of cytosolic calcium ion concentration|microtubule polymerization|negative regulation of neuron projection development|osmosensory signaling pathway|positive regulation of microtubule depolymerization|response to mechanical stimulus cortical actin cytoskeleton|filopodium|focal adhesion|growth cone|integral to membrane|lamellipodium|ruffle membrane SH2 domain binding|actin filament binding|alpha-tubulin binding|beta-tubulin binding|calcium channel activity|calmodulin binding|microtubule binding|protein binding|protein kinase C binding breast(1)|central_nervous_system(1)|cervix(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(7)|lung(7)|ovary(3)|prostate(2)|skin(4)|stomach(1) 35 AGACCACGTTGATGTAGAAGG 0.617000 59 26 0 0 0.00106085 0 0 PCDHAC2 56134 broad.mit.edu 37 5 140209885 140209885 + Missense_Mutation SNP C T T TCGA-EE-A3AC-06A-11D-A196-08 TCGA-EE-A3AC-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 883d623b-c427-4444-9ee3-66d18648130f f8f00311-8db5-4187-bcb8-5054d9fbdac3 g.chr5:140209885C>T uc003lho.2 + 0 2236 c.2209C>T c.(2209-2211)Ccc>Tcc p.P737S PCDHAC2_uc003lha.2_Intron|PCDHAC2_uc003lhb.2_Intron|PCDHAC2_uc003lhd.2_Intron|PCDHAC2_uc003lhf.2_Intron|PCDHAC2_uc003lhh.1_Intron|PCDHAC2_uc003lhi.2_Intron|PCDHAC2_uc003lhl.2_Intron|PCDHAC2_uc003lhk.1_Intron|PCDHAC2_uc003lhn.2_Intron|PCDHAC2_uc011dab.2_Missense_Mutation_p.P737S NM_018909 NP_061732 Q9Y5I4 PCDC2_HUMAN Homo sapiens protocadherin alpha 6 (PCDHA6), transcript variant 1, mRNA. 738 homophilic cell adhesion|nervous system development integral to plasma membrane calcium ion binding p.A736V(2) NS(1)|breast(1)|endometrium(4)|kidney(4)|large_intestine(10)|liver(2)|lung(9)|ovary(2)|prostate(1)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(1) 45 KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191) GGCGGACAAGCCCACGCTGGT 0.682000 24 12 0 0 0.00136819 0 0 KIF14 9928 broad.mit.edu 37 1 200559285 200559285 + Missense_Mutation SNP C T T TCGA-EE-A3AC-06A-11D-A196-08 TCGA-EE-A3AC-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 883d623b-c427-4444-9ee3-66d18648130f f8f00311-8db5-4187-bcb8-5054d9fbdac3 g.chr1:200559285C>T uc010ppk.1 - 16 3368 c.2929G>A c.(2929-2931)Gaa>Aaa p.E977K KIF14_uc010ppj.1_Missense_Mutation_p.E486K NM_014875 NP_055690 Q15058 KIF14_HUMAN Homo sapiens kinesin family member 14 (KIF14), mRNA. 977 Required for CIT-binding. microtubule-based movement cytoplasm|microtubule|nucleus|spindle ATP binding|microtubule motor activity|protein binding NS(1)|breast(5)|central_nervous_system(2)|endometrium(8)|kidney(8)|large_intestine(15)|lung(13)|ovary(3)|prostate(2)|skin(3)|urinary_tract(1) 61 ATTTTGCTTTCATATGCAGCT 0.378000 145 43 0 0 0.000781405 0 0 NRAS 4893 broad.mit.edu 37 1 115256530 115256530 + Missense_Mutation SNP G T T rs121913254 TCGA-EE-A3AC-06A-11D-A196-08 TCGA-EE-A3AC-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 883d623b-c427-4444-9ee3-66d18648130f f8f00311-8db5-4187-bcb8-5054d9fbdac3 g.chr1:115256530G>T uc009wgu.3 - 2 435 c.181C>A c.(181-183)Caa>Aaa p.Q61K NM_002524 NP_002515 P01111 RASN_HUMAN Homo sapiens neuroblastoma RAS viral (v-ras) oncogene homolog (NRAS), mRNA. 61 Q -> K (in neuroblastoma cell).|Q -> R (in lung carcinoma cell and melanoma; dbSNP:rs11554290). Ras protein signal transduction|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 Golgi membrane|plasma membrane GTP binding|GTPase activity p.Q61K(1229)|p.Q61R(898)|p.Q61L(198)|p.Q61H(123)|p.Q61P(23)|p.Q61E(18)|p.G60E(6)|p.Q61?(5)|p.Q61Q(3)|p.G60>?(2)|p.G60R(1)|p.Q61*(1)|p.Q61_E62>HK(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) TACTCTTCTTGTCCAGCTGTA 0.458000 Q61K(CHP212_AUTONOMIC_GANGLIA)|Q61K(HCC15_LUNG)|Q61K(HS936T_SKIN)|Q61K(HS944T_SKIN)|Q61K(HT1080_SOFT_TISSUE)|Q61K(HUT78_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|Q61K(M07E_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|Q61K(NCIH1299_LUNG)|Q61K(NCIH2087_LUNG)|Q61K(OCILY19_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|Q61K(SKNAS_AUTONOMIC_GANGLIA)|Q61K(SKNSH_AUTONOMIC_GANGLIA)|Q61K(TYKNU_OVARY) 50 Mis """melanoma, MM, AML, thyroid""" Noonan syndrome TSP Lung(23;0.16)|Multiple Myeloma(1;<1E-6) 96 55 3.63617e-18 1.67923e-17 0.000781405 1 0 MAGI2 9863 broad.mit.edu 37 7 77708331 77708331 + Silent SNP G A A TCGA-EE-A3AC-06A-11D-A196-08 TCGA-EE-A3AC-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 883d623b-c427-4444-9ee3-66d18648130f f8f00311-8db5-4187-bcb8-5054d9fbdac3 g.chr7:77708331G>A uc003ugx.3 - 20 3893 c.3639C>T c.(3637-3639)ctC>ctT p.L1213L MAGI2_uc003ugy.3_Silent_p.L1199L|MAGI2_uc010ldx.1_Silent_p.L806L NM_012301 NP_036433 Q86UL8 MAGI2_HUMAN Homo sapiens membrane associated guanylate kinase, WW and PDZ domain containing 2 (MAGI2), mRNA. 1213 PDZ 6. cell junction|synapse|synaptosome phosphatase binding NS(1)|breast(3)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(12)|lung(37)|ovary(5)|prostate(1)|skin(8)|upper_aerodigestive_tract(1)|urinary_tract(3) 84 all_cancers(73;0.0064)|all_epithelial(88;0.087)|all_neural(109;0.0936)|Medulloblastoma(109;0.166)|Melanoma(862;0.236) CAGATTTGATGAGTTCTATTG 0.443000 89 56 0 0 0.000781405 0 0 HSP90AB4P 664618 broad.mit.edu 37 15 58985208 58985208 + Silent SNP G A A TCGA-EE-A3AC-06A-11D-A196-08 TCGA-EE-A3AC-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 883d623b-c427-4444-9ee3-66d18648130f f8f00311-8db5-4187-bcb8-5054d9fbdac3 g.chr15:58985208G>A uc002afh.1 - 0 117 c.117C>T c.(115-117)tcC>tcT p.S39S ADAM10_uc002afd.1_Intron|ADAM10_uc010bgc.1_Intron|ADAM10_uc010ugz.1_Intron|ADAM10_uc002afe.1_Intron Homo sapiens heat shock protein 90kDa alpha (cytosolic), class B member 4, pseudogene (HSP90AB4P), non-coding RNA. CGTCCAACTTGGAAGGGTCTG 0.463000 20 18 0 0 0.000566183 0 0 GGTLC1 92086 broad.mit.edu 37 20 23966593 23966593 + Missense_Mutation SNP G A A TCGA-EE-A3AC-06A-11D-A196-08 TCGA-EE-A3AC-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 883d623b-c427-4444-9ee3-66d18648130f f8f00311-8db5-4187-bcb8-5054d9fbdac3 g.chr20:23966593G>A uc002wts.3 - 3 456 c.323C>T c.(322-324)tCc>tTc p.S108F GGTLC1_uc002wtu.3_Missense_Mutation_p.S108F NM_178312 NP_842564 Q9BX51 GGTL1_HUMAN Homo sapiens gamma-glutamyltransferase light chain 1 (GGTLC1), transcript variant B, mRNA. 108 gamma-glutamyltransferase activity NS(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(8)|ovary(1)|upper_aerodigestive_tract(1) 15 CGGGCACATGGACGAGAGCGG 0.682000 56 42 0 0 0.000781405 0 0 OR13F1 138805 broad.mit.edu 37 9 107267348 107267348 + Missense_Mutation SNP G A A rs140352060 TCGA-EE-A3AC-06A-11D-A196-08 TCGA-EE-A3AC-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 883d623b-c427-4444-9ee3-66d18648130f f8f00311-8db5-4187-bcb8-5054d9fbdac3 g.chr9:107267348G>A uc011lvm.2 + 0 805 c.805G>A c.(805-807)Gaa>Aaa p.E269K NM_001004485 NP_001004485 Q8NGS4 O13F1_HUMAN Homo sapiens olfactory receptor, family 13, subfamily F, member 1 (OR13F1), mRNA. 269 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity endometrium(3)|large_intestine(6)|lung(17)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1) 31 AGATTCACAGGAAATAGACAA 0.468000 34 15 0 0 0.000308642 0 0 ACACB 32 broad.mit.edu 37 12 109671600 109671600 + Missense_Mutation SNP C T T TCGA-EE-A3AC-06A-11D-A196-08 TCGA-EE-A3AC-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 883d623b-c427-4444-9ee3-66d18648130f f8f00311-8db5-4187-bcb8-5054d9fbdac3 g.chr12:109671600C>T uc001tob.3 + 29 4306 c.4187C>T c.(4186-4188)aCc>aTc p.T1396I ACACB_uc001toc.3_Missense_Mutation_p.T1396I|ACACB_uc010sxl.1_Non-coding_Transcript|ACACB_uc001tod.3_Non-coding_Transcript|ACACB_uc010sxm.2_Missense_Mutation_p.T62I NM_001093 NP_001084 O00763 ACACB_HUMAN Homo sapiens acetyl-CoA carboxylase beta (ACACB), mRNA. 1396 acetyl-CoA metabolic process|carnitine shuttle|energy reserve metabolic process|fatty acid biosynthetic process|positive regulation of cellular metabolic process|protein homotetramerization|regulation of fatty acid oxidation Golgi apparatus|cytosol|endomembrane system|membrane ATP binding|acetyl-CoA carboxylase activity|biotin carboxylase activity|metal ion binding|protein binding NS(1)|breast(2)|endometrium(9)|kidney(5)|large_intestine(20)|lung(40)|ovary(6)|pancreas(1)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2) 95 Biotin(DB00121) CCCAAAGACACCCCCCTCTTC 0.612000 46 16 0 0 0.00121646 0 0 UBTD2 92181 broad.mit.edu 37 5 171639158 171639158 + Silent SNP G A A TCGA-EE-A3AC-06A-11D-A196-08 TCGA-EE-A3AC-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 883d623b-c427-4444-9ee3-66d18648130f f8f00311-8db5-4187-bcb8-5054d9fbdac3 g.chr5:171639158G>A uc003mbp.1 - 2 507 c.381C>T c.(379-381)atC>atT p.I127I NM_152277 NP_689490 Q8WUN7 UBTD2_HUMAN Homo sapiens ubiquitin domain containing 2 (UBTD2), mRNA. 127 cytoplasm cervix(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(1)|prostate(1)|skin(1) 10 Renal(175;0.000159)|Lung NSC(126;0.00976)|all_lung(126;0.0156) Medulloblastoma(196;0.00853)|all_neural(177;0.026) Kidney(164;7.24e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000516) CTATCATGTTGATTGGCGGTG 0.453000 53 33 0 0 0.00058488 0 0 FXR1 8087 broad.mit.edu 37 3 180685959 180685959 + Missense_Mutation SNP G T T TCGA-EE-A3AC-06A-11D-A196-08 TCGA-EE-A3AC-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 883d623b-c427-4444-9ee3-66d18648130f f8f00311-8db5-4187-bcb8-5054d9fbdac3 g.chr3:180685959G>T uc003fkq.3 + 13 1559 c.1319G>T c.(1318-1320)aGa>aTa p.R440I FXR1_uc003fkp.3_Missense_Mutation_p.R355I|FXR1_uc003fkr.3_Missense_Mutation_p.R440I|FXR1_uc011bqj.2_Missense_Mutation_p.R354I|FXR1_uc003fks.3_Missense_Mutation_p.R383I|FXR1_uc011bqk.2_Missense_Mutation_p.R391I|FXR1_uc011bql.2_Missense_Mutation_p.R427I NM_005087 NP_001013457 P51114 FXR1_HUMAN Homo sapiens fragile X mental retardation, autosomal homolog 1 (FXR1), transcript variant 1, mRNA. 440 apoptosis|cell differentiation|muscle organ development nucleolus|polysome breast(3)|endometrium(4)|large_intestine(5)|lung(12)|skin(2) 26 all_cancers(143;6.07e-14)|Ovarian(172;0.0212) Epithelial(37;3.05e-35)|OV - Ovarian serous cystadenocarcinoma(80;2.4e-22) GACAGCAGGAGACGCCCAGGA 0.532000 35 13 3.27435e-08 1.50234e-07 0.000219431 1 0 LNPEP 4012 broad.mit.edu 37 5 96315499 96315499 + Missense_Mutation SNP C T T TCGA-EE-A3AC-06A-11D-A196-08 TCGA-EE-A3AC-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 883d623b-c427-4444-9ee3-66d18648130f f8f00311-8db5-4187-bcb8-5054d9fbdac3 g.chr5:96315499C>T uc003kmv.1 + 1 1191 c.677C>T c.(676-678)tCa>tTa p.S226L LNPEP_uc003kmw.1_Missense_Mutation_p.S212L NM_005575 NP_787116 Q9UIQ6 LCAP_HUMAN Homo sapiens leucyl/cystinyl aminopeptidase (LNPEP), transcript variant 1, mRNA. 226 cell-cell signaling|female pregnancy|proteolysis extracellular region|integral to plasma membrane aminopeptidase activity|metallopeptidase activity|zinc ion binding breast(2)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(9)|lung(10)|ovary(3)|skin(1)|urinary_tract(1) 34 all_cancers(142;7e-07)|all_epithelial(76;9.52e-10)|all_lung(232;0.00101)|Lung NSC(167;0.00137)|Ovarian(225;0.024)|Colorectal(57;0.0269)|Breast(839;0.244) COAD - Colon adenocarcinoma(37;0.072) TCAGCAGTTTCAAGCCAAGAA 0.428000 9 10 0 0 0.00185496 0 0 OTOGL 283310 broad.mit.edu 37 12 80722851 80722851 + Missense_Mutation SNP G A A TCGA-EE-A3AC-06A-11D-A196-08 TCGA-EE-A3AC-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 883d623b-c427-4444-9ee3-66d18648130f f8f00311-8db5-4187-bcb8-5054d9fbdac3 g.chr12:80722851G>A uc001szd.3 + 35 4279 c.4273G>A c.(4273-4275)Gaa>Aaa p.E1425K NM_173591 NP_775862 Homo sapiens otogelin-like (OTOGL), mRNA. breast(1)|endometrium(3)|kidney(2)|large_intestine(2)|lung(14)|prostate(1) 23 GATTCCCACAGAACCAACATT 0.353000 13 4 0 0 0.00198382 0 0 BIN2 51411 broad.mit.edu 37 12 51686091 51686091 + Nonsense_Mutation SNP G A A TCGA-EE-A3AC-06A-11D-A196-08 TCGA-EE-A3AC-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 883d623b-c427-4444-9ee3-66d18648130f f8f00311-8db5-4187-bcb8-5054d9fbdac3 g.chr12:51686091G>A uc001ryg.3 - 9 851 c.799C>T c.(799-801)Cga>Tga p.R267* BIN2_uc009zlz.3_Nonsense_Mutation_p.R235*|BIN2_uc001ryh.3_Nonsense_Mutation_p.R143*|BIN2_uc010sng.2_Nonsense_Mutation_p.R241* NM_016293 NP_057377 Q9UBW5 BIN2_HUMAN Homo sapiens bridging integrator 2 (BIN2), mRNA. 267 cytoplasm protein binding NS(2)|breast(1)|endometrium(1)|kidney(4)|large_intestine(4)|lung(12)|ovary(1)|prostate(3)|skin(3) 31 GTAGCTGTTCGAACTGGGGGA 0.453000 52 41 0 0 0.000781405 0 0 MT4 84560 broad.mit.edu 37 16 56602761 56602761 + Missense_Mutation SNP C T T TCGA-EE-A3AC-06A-11D-A196-08 TCGA-EE-A3AC-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 883d623b-c427-4444-9ee3-66d18648130f f8f00311-8db5-4187-bcb8-5054d9fbdac3 g.chr16:56602761C>T uc002eje.1 + 2 186 c.106C>T c.(106-108)Ccc>Tcc p.P36S NM_032935 NP_116324 P47944 MT4_HUMAN Homo sapiens metallothionein 4 (MT4), mRNA. 36 cytoplasm copper ion binding|zinc ion binding p.P36P(1) ovary(1)|upper_aerodigestive_tract(1) 2 AGGCTGCTGTCCCTGCTGCCC 0.587000 88 39 0 0 0.00170553 0 0 LGI2 55203 broad.mit.edu 37 4 25005339 25005339 + Missense_Mutation SNP C T T TCGA-EE-A3AC-06A-11D-A196-08 TCGA-EE-A3AC-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 883d623b-c427-4444-9ee3-66d18648130f f8f00311-8db5-4187-bcb8-5054d9fbdac3 g.chr4:25005339C>T uc003grf.2 - 7 1471 c.1372G>A c.(1372-1374)Gct>Act p.A458T NM_018176 NP_060646 Q8N0V4 LGI2_HUMAN Homo sapiens leucine-rich repeat LGI family, member 2 (LGI2), mRNA. 458 extracellular region breast(2)|endometrium(2)|kidney(2)|large_intestine(6)|lung(15)|prostate(1)|skin(3)|stomach(2) 33 Breast(46;0.173) GATGGAAGAGCTTGGATCTCC 0.512000 65 44 0 0 0.000680045 0 0 FAM47C 442444 broad.mit.edu 37 X 37029039 37029039 + Silent SNP C T T TCGA-EE-A3AC-06A-11D-A196-08 TCGA-EE-A3AC-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 883d623b-c427-4444-9ee3-66d18648130f f8f00311-8db5-4187-bcb8-5054d9fbdac3 g.chrX:37029039C>T uc004ddl.2 + 0 2608 c.2556C>T c.(2554-2556)ctC>ctT p.L852L NM_001013736 NP_001013758 Q5HY64 FA47C_HUMAN Homo sapiens family with sequence similarity 47, member C (FAM47C), mRNA. 852 breast(4)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(15)|lung(63)|ovary(6)|pancreas(1)|prostate(6)|skin(8)|upper_aerodigestive_tract(4)|urinary_tract(1) 120 CGAGAAAACTCCGTGACTTCA 0.463000 14 55 0 0 0.000781405 0 0 NUP210L 91181 broad.mit.edu 37 1 154072489 154072489 + Silent SNP A C C TCGA-EE-A3AC-06A-11D-A196-08 TCGA-EE-A3AC-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 883d623b-c427-4444-9ee3-66d18648130f f8f00311-8db5-4187-bcb8-5054d9fbdac3 g.chr1:154072489A>C uc001fdw.3 - 13 2022 c.1950T>G c.(1948-1950)gcT>gcG p.A650A NUP210L_uc009woq.3_5'UTR|NUP210L_uc010peh.2_Silent_p.A650A NM_207308 NP_997191 Q5VU65 P210L_HUMAN Homo sapiens nucleoporin 210kDa-like (NUP210L), transcript variant 1, mRNA. 650 integral to membrane NS(1)|breast(6)|central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(12)|lung(34)|ovary(4)|pancreas(1)|prostate(2)|skin(6)|urinary_tract(2) 80 all_lung(78;9.35e-31)|Lung NSC(65;1.33e-28)|Hepatocellular(266;0.0877)|Melanoma(130;0.128) LUSC - Lung squamous cell carcinoma(543;0.151)|Colorectal(543;0.198) GGGGTTCATAAGCAGCAAATG 0.408000 109 106 0 0 0.000781405 0 0 DGAT2 84649 broad.mit.edu 37 11 75495679 75495679 + Silent SNP C T T TCGA-EE-A3AC-06A-11D-A196-08 TCGA-EE-A3AC-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 883d623b-c427-4444-9ee3-66d18648130f f8f00311-8db5-4187-bcb8-5054d9fbdac3 g.chr11:75495679C>T uc001oxa.3 + 1 397 c.138C>T c.(136-138)atC>atT p.I46I DGAT2_uc001oxb.3_Intron NM_032564 NP_115953 Q96PD7 DGAT2_HUMAN Homo sapiens diacylglycerol O-acyltransferase 2 (DGAT2), transcript variant 1, mRNA. 46 glycerol metabolic process|triglyceride biosynthetic process endoplasmic reticulum membrane|integral to membrane diacylglycerol O-acyltransferase activity endometrium(3)|large_intestine(5)|lung(5)|prostate(2)|skin(2) 17 Ovarian(111;0.103) GATCCAGCATCCTCTCCGCCC 0.567000 38 28 0 0 0.0024448 0 0 PCLO 27445 broad.mit.edu 37 7 82544628 82544628 + Missense_Mutation SNP G A A TCGA-EE-A3AC-06A-11D-A196-08 TCGA-EE-A3AC-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 883d623b-c427-4444-9ee3-66d18648130f f8f00311-8db5-4187-bcb8-5054d9fbdac3 g.chr7:82544628G>A uc003uhx.2 - 6 12963 c.12674C>T c.(12673-12675)tCa>tTa p.S4225L PCLO_uc003uhv.2_Missense_Mutation_p.S4225L|PCLO_uc010lec.3_Missense_Mutation_p.S1190L NM_033026 NP_149015 Q9Y6V0 PCLO_HUMAN Homo sapiens piccolo (presynaptic cytomatrix protein) (PCLO), transcript variant 1, mRNA. 4156 Ser-rich. cytoskeleton organization|synaptic vesicle exocytosis cell junction|cytoskeleton|synaptic vesicle calcium ion binding|calcium-dependent phospholipid binding|profilin binding|transporter activity breast(3)|central_nervous_system(3)|cervix(5)|endometrium(19)|haematopoietic_and_lymphoid_tissue(3)|kidney(19)|large_intestine(35)|lung(145)|ovary(7)|prostate(4)|upper_aerodigestive_tract(14)|urinary_tract(2) 259 ACCAATAGATGAAGTGCTAGA 0.363000 13 11 0 0 0.000978159 0 0 SRMS 6725 broad.mit.edu 37 20 62175632 62175632 + Silent SNP C T T TCGA-EE-A3AC-06A-11D-A196-08 TCGA-EE-A3AC-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 883d623b-c427-4444-9ee3-66d18648130f f8f00311-8db5-4187-bcb8-5054d9fbdac3 g.chr20:62175632C>T uc002yfi.1 - 1 467 c.426G>A c.(424-426)ggG>ggA p.G142G NM_080823 NP_543013 Q9H3Y6 SRMS_HUMAN Homo sapiens src-related kinase lacking C-terminal regulatory tyrosine and N-terminal myristylation sites (SRMS), mRNA. 142 SH2. ATP binding|non-membrane spanning protein tyrosine kinase activity breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(1)|lung(9)|prostate(2)|stomach(1) 19 all_cancers(38;2.51e-11)|all_epithelial(29;8.27e-13) Epithelial(9;9.69e-09)|all cancers(9;5.84e-08)|BRCA - Breast invasive adenocarcinoma(10;3.63e-06) TGAGGAAGGCCCCTGGTTCGT 0.667000 2 8 0 0 0.000274275 0 0 SCN5A 6331 broad.mit.edu 37 3 38591832 38591832 + Missense_Mutation SNP C T T TCGA-EE-A3AC-06A-11D-A196-08 TCGA-EE-A3AC-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 883d623b-c427-4444-9ee3-66d18648130f f8f00311-8db5-4187-bcb8-5054d9fbdac3 g.chr3:38591832C>T uc021wvo.1 - 26 6083 c.6031G>A c.(6031-6033)Gac>Aac p.D2011N SCN5A_uc021wvk.1_Missense_Mutation_p.D1978N|SCN5A_uc021wvl.1_Missense_Mutation_p.D1957N|SCN5A_uc021wvm.1_Missense_Mutation_p.D1993N|SCN5A_uc021wvn.1_Missense_Mutation_p.D2010N|SCN5A_uc021wvp.1_Missense_Mutation_p.D2011N|SCN5A_uc021wvq.1_3'UTR|SCN5A_uc021wvr.1_3'UTR|SCN5A_uc021wvs.1_3'UTR|SCN5A_uc021wvt.1_3'UTR|SCN5A_uc021wvu.1_3'UTR|SCN5A_uc021wvv.1_3'UTR|SCN5A_uc021wvj.1_Missense_Mutation_p.D1823N|SCN5A_uc021wvi.1_Missense_Mutation_p.D1877N NM_198056 NP_932173 Q14524 SCN5A_HUMAN Homo sapiens sodium channel, voltage-gated, type V, alpha subunit (SCN5A), transcript variant 1, mRNA. 2011 blood circulation|cellular response to calcium ion|muscle contraction|regulation of heart contraction sarcolemma|voltage-gated sodium channel complex protein binding|voltage-gated sodium channel activity NS(3)|breast(2)|central_nervous_system(3)|cervix(2)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(25)|lung(27)|ovary(6)|pancreas(3)|prostate(10)|skin(9)|upper_aerodigestive_tract(4) 107 Medulloblastoma(35;0.163) KIRC - Kidney renal clear cell carcinoma(284;0.0822)|Kidney(284;0.1) Benzonatate(DB00868)|Bepridil(DB01244)|Carbamazepine(DB00564)|Cocaine(DB00907)|Dibucaine(DB00527)|Disopyramide(DB00280)|Encainide(DB01228)|Ethotoin(DB00754)|Flecainide(DB01195)|Fosphenytoin(DB01320)|Hexylcaine(DB00473)|Indecainide(DB00192)|Lamotrigine(DB00555)|Lidocaine(DB00281)|Mephenytoin(DB00532)|Mexiletine(DB00379)|Mibefradil(DB01388)|Moricizine(DB00680)|Oxcarbazepine(DB00776)|Phenytoin(DB00252)|Prilocaine(DB00750)|Procainamide(DB01035)|Propafenone(DB01182)|Quinidine(DB00908)|Riluzole(DB00740)|Tocainide(DB01056)|Verapamil(DB00661) GACTCACGGTCCCTGTCCGGA 0.572000 58 53 0 0 0.000781405 0 0 PPP2R2B 5521 broad.mit.edu 37 5 145969630 145969630 + Silent SNP G A A TCGA-EE-A3AC-06A-11D-A196-08 TCGA-EE-A3AC-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 883d623b-c427-4444-9ee3-66d18648130f f8f00311-8db5-4187-bcb8-5054d9fbdac3 g.chr5:145969630G>A uc011dbv.2 - 10 1649 c.1386C>T c.(1384-1386)atC>atT p.I462I PPP2R2B_uc010jgm.3_Silent_p.I393I|PPP2R2B_uc003loe.3_Silent_p.I404I|PPP2R2B_uc003log.4_Silent_p.I404I|PPP2R2B_uc003lof.4_Silent_p.I404I|PPP2R2B_uc003loi.4_Silent_p.I407I|PPP2R2B_uc003loh.4_Silent_p.I404I|PPP2R2B_uc003lok.4_Silent_p.I393I|PPP2R2B_uc003loj.4_Silent_p.I384I|PPP2R2B_uc011dbu.2_Silent_p.I410I NM_181675 NP_858061 Q00005 2ABB_HUMAN Homo sapiens protein phosphatase 2, regulatory subunit B, beta (PPP2R2B), transcript variant 3, mRNA. 404 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) TGTCGACACTGATCTCGTCTT 0.473000 67 56 0 0 0.000781405 0 0 NLGN3 54413 broad.mit.edu 37 X 70389876 70389876 + Missense_Mutation SNP C T T TCGA-EE-A3AC-06A-11D-A196-08 TCGA-EE-A3AC-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 883d623b-c427-4444-9ee3-66d18648130f f8f00311-8db5-4187-bcb8-5054d9fbdac3 g.chrX:70389876C>T uc004dzd.2 + 7 2810 c.2476C>T c.(2476-2478)Ccc>Tcc p.P826S NLGN3_uc004dzb.3_Missense_Mutation_p.P806S|NLGN3_uc011mps.2_Missense_Mutation_p.P786S|NLGN3_uc004dzc.3_Missense_Mutation_p.P689S|NLGN3_uc004dze.3_Missense_Mutation_p.P624S NM_181303 NP_851820 Q9NZ94 NLGN3_HUMAN Homo sapiens neuroligin 3 (NLGN3), transcript variant 1, mRNA. 826 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) GACATTGCACCCCTATAACAC 0.592000 1 6 0 0 0.00116845 0 0 FOLR3 2352 broad.mit.edu 37 11 71847002 71847002 + Missense_Mutation SNP G A A TCGA-EE-A3AC-06A-11D-A196-08 TCGA-EE-A3AC-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 883d623b-c427-4444-9ee3-66d18648130f f8f00311-8db5-4187-bcb8-5054d9fbdac3 g.chr11:71847002G>A uc001ory.1 + 1 54 c.4G>A c.(4-6)Gac>Aac p.D2N FOLR3_uc001orx.1_Missense_Mutation_p.D2N P41439 FOLR3_HUMAN Homo sapiens folate receptor 3 (gamma) (FOLR3), mRNA. 0 folic acid transport extracellular region|extrinsic to membrane|membrane fraction folic acid binding|receptor activity large_intestine(3)|lung(8)|prostate(2) 13 Folic Acid(DB00158) GGAATAGATGGACATGGCCTG 0.607000 83 30 0 0 0.00111076 0 0 ADAM18 8749 broad.mit.edu 37 8 39587459 39587459 + Nonstop_Mutation SNP A T T TCGA-EE-A3AC-06A-11D-A196-08 TCGA-EE-A3AC-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 883d623b-c427-4444-9ee3-66d18648130f f8f00311-8db5-4187-bcb8-5054d9fbdac3 g.chr8:39587459A>T uc003xni.3 + 19 2275 c.2220A>T c.(2218-2220)taA>taT p.*740Y ADAM18_uc010lww.3_Non-coding_Transcript|ADAM18_uc010lwx.3_Nonstop_Mutation_p.*716Y NM_014237 NP_055052 Q9Y3Q7 ADA18_HUMAN Homo sapiens ADAM metallopeptidase domain 18 (ADAM18), transcript variant 1, mRNA. 0 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) TGGGACATTAATATTGCACAG 0.328000 79 43 0 0 0.000781405 0 0 PDE1C 5137 broad.mit.edu 37 7 31887694 31887694 + Silent SNP G A A TCGA-EE-A3AC-06A-11D-A196-08 TCGA-EE-A3AC-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 883d623b-c427-4444-9ee3-66d18648130f f8f00311-8db5-4187-bcb8-5054d9fbdac3 g.chr7:31887694G>A uc003tcm.2 - 8 1329 c.868C>T c.(868-870)Ctg>Ttg p.L290L PDE1C_uc003tcn.1_Silent_p.L290L|PDE1C_uc003tco.2_Silent_p.L350L|PDE1C_uc003tcr.3_Silent_p.L290L|PDE1C_uc003tcs.3_Silent_p.L290L NM_001191057 NP_001177988 Q14123 PDE1C_HUMAN Homo sapiens phosphodiesterase 1C, calmodulin-dependent 70kDa (PDE1C), transcript variant 2, mRNA. 290 Catalytic (By similarity). activation of phospholipase C activity|nerve growth factor receptor signaling pathway cytosol calmodulin binding|calmodulin-dependent cyclic-nucleotide phosphodiesterase activity|metal ion binding NS(1)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(38)|prostate(4)|skin(8)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(2) 81 GBM - Glioblastoma multiforme(11;0.216) TCATTATACAGAATAGCTGGA 0.388000 21 19 0 0 0.00152264 0 0 NXF4 55999 broad.mit.edu 37 X 101805040 101805040 + RNA SNP G A A TCGA-EE-A3AC-06A-11D-A196-08 TCGA-EE-A3AC-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 883d623b-c427-4444-9ee3-66d18648130f f8f00311-8db5-4187-bcb8-5054d9fbdac3 g.chrX:101805040G>A uc004ejf.1 + 0 c.148G>A Homo sapiens nuclear RNA export factor 4 pseudogene (NXF4), non-coding RNA. endometrium(2)|lung(8) 10 GGTTAAGGGGGATCCTGAGCA 0.537000 4 31 0 0 0.000953801 0 0 PODN 127435 broad.mit.edu 37 1 53535657 53535657 + Missense_Mutation SNP G A A TCGA-EE-A3AC-06A-11D-A196-08 TCGA-EE-A3AC-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 883d623b-c427-4444-9ee3-66d18648130f f8f00311-8db5-4187-bcb8-5054d9fbdac3 g.chr1:53535657G>A uc001cuv.3 + 1 442 c.274G>A c.(274-276)Gaa>Aaa p.E92K PODN_uc010onr.2_Missense_Mutation_p.E73K|PODN_uc010ons.2_Missense_Mutation_p.E92K|PODN_uc001cuw.3_Missense_Mutation_p.E73K NM_153703 NP_714914 Q7Z5L7 PODN_HUMAN Homo sapiens podocan (PODN), transcript variant 1, mRNA. 44 LRRNT. negative regulation of cell migration|negative regulation of cell proliferation cytoplasm|extracellular space|proteinaceous extracellular matrix collagen binding breast(2)|endometrium(3)|kidney(2)|large_intestine(2)|lung(11)|ovary(2)|pancreas(1)|prostate(3)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1) 33 CGAAGAGAACGAATTTGCGGA 0.687000 10 4 0 0 0.00116845 0 0 SSPO 23145 broad.mit.edu 37 7 149519198 149519198 + Silent SNP C T T TCGA-EE-A3AC-06A-11D-A196-08 TCGA-EE-A3AC-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 883d623b-c427-4444-9ee3-66d18648130f f8f00311-8db5-4187-bcb8-5054d9fbdac3 g.chr7:149519198C>T uc010lpk.3 + 89 12993 c.12993C>T c.(12991-12993)tgC>tgT p.C4331C SSPO_uc010lpm.1_Non-coding_Transcript|SSPO_uc003wgg.2_Non-coding_Transcript|SSPO_uc003wgh.2_Non-coding_Transcript|SSPO_uc003wgi.1_5'Flank NM_198455 NP_940857 A2VEC9 SSPO_HUMAN Homo sapiens SCO-spondin homolog (Bos taurus) (SSPO), mRNA. 4334 TSP type-1 21. cell adhesion extracellular space peptidase inhibitor activity Melanoma(164;0.165)|Ovarian(565;0.177) OV - Ovarian serous cystadenocarcinoma(82;0.00625) CTGGGTCCTGCCCCTGCCTGA 0.711000 32 17 0 0 0.00074312 0 0 STAB2 55576 broad.mit.edu 37 12 104031812 104031812 + Missense_Mutation SNP G A A rs115145720 byFrequency TCGA-EE-A3AC-06A-11D-A196-08 TCGA-EE-A3AC-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 883d623b-c427-4444-9ee3-66d18648130f f8f00311-8db5-4187-bcb8-5054d9fbdac3 g.chr12:104031812G>A uc001tjw.3 + 7 914 c.728G>A c.(727-729)cGa>cAa p.R243Q NM_017564 NP_060034 Q8WWQ8 STAB2_HUMAN Homo sapiens stabilin 2 (STAB2), mRNA. 243 EGF-like 4. angiogenesis|cell adhesion|defense response to bacterium|receptor-mediated endocytosis cytoplasm|external side of plasma membrane|integral to plasma membrane Gram-negative bacterial cell surface binding|hyaluronic acid binding|low-density lipoprotein receptor activity|protein disulfide oxidoreductase activity|scavenger receptor activity p.R243*(1) NS(4)|breast(7)|central_nervous_system(1)|cervix(1)|endometrium(15)|kidney(11)|large_intestine(26)|lung(77)|ovary(10)|pancreas(1)|prostate(5)|skin(14)|stomach(2) 174 CCATGTTTACGAAAAATCTGC 0.493000 59 41 0 0 0.000781405 0 0 CCDC159 126075 broad.mit.edu 37 19 11462648 11462648 + Splice_Site SNP C T T TCGA-EE-A3AC-06A-11D-A196-08 TCGA-EE-A3AC-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 883d623b-c427-4444-9ee3-66d18648130f f8f00311-8db5-4187-bcb8-5054d9fbdac3 g.chr19:11462648C>T uc010xlw.1 + 7 818 c.739_splice c.e7+1 p.Q247_splice CCDC159_uc010xls.2_Splice_Site_p.Q164_splice|CCDC159_uc010xlt.2_Splice_Site_p.Q164_splice|CCDC159_uc010xlv.2_Splice_Site_p.Q163_splice NM_001080503 NP_001073972 P0C7I6 CC159_HUMAN Homo sapiens coiled-coil domain containing 159 (CCDC159), mRNA. 279 endometrium(1)|large_intestine(1)|lung(2)|ovary(1) 5 ATCAGAAGCTCCGTGAGTTCC 0.617000 9 7 0 0 0.00198382 0 0 GDF2 2658 broad.mit.edu 37 10 48416538 48416538 + Silent SNP G C C TCGA-EE-A3AC-06A-11D-A196-08 TCGA-EE-A3AC-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 883d623b-c427-4444-9ee3-66d18648130f f8f00311-8db5-4187-bcb8-5054d9fbdac3 g.chr10:48416538G>C uc001jfa.1 - 0 316 c.156C>G c.(154-156)acC>acG p.T52T NM_016204 NP_057288 Q9UK05 GDF2_HUMAN Homo sapiens growth differentiation factor 2 (GDF2), mRNA. 52 BMP signaling pathway|activin receptor signaling pathway|cartilage development|cellular iron ion homeostasis|growth|negative regulation of DNA replication|negative regulation of angiogenesis|negative regulation of blood vessel endothelial cell migration|negative regulation of cell growth|negative regulation of endothelial cell proliferation|ossification|pathway-restricted SMAD protein phosphorylation|patterning of blood vessels|positive regulation of angiogenesis|positive regulation of endothelial cell proliferation|positive regulation of pathway-restricted SMAD protein phosphorylation|positive regulation of transcription, DNA-dependent extracellular space cytokine activity|growth factor activity breast(1)|endometrium(2)|large_intestine(3)|lung(14)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(2) 28 TCAGGTTGAAGGTGTGCTCAG 0.622000 21 17 0 0 0.00121646 0 0 OR8D2 283160 broad.mit.edu 37 11 124189444 124189444 + Missense_Mutation SNP G A A TCGA-EE-A3AC-06A-11D-A196-08 TCGA-EE-A3AC-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 883d623b-c427-4444-9ee3-66d18648130f f8f00311-8db5-4187-bcb8-5054d9fbdac3 g.chr11:124189444G>A uc010sah.2 - 0 650 c.650C>T c.(649-651)tCt>tTt p.S217F NM_001002918 NP_001002918 Q9GZM6 OR8D2_HUMAN Homo sapiens olfactory receptor, family 8, subfamily D, member 2 (OR8D2), mRNA. 217 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity breast(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(14)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1) 25 Breast(109;0.0115)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|all_neural(223;0.22) BRCA - Breast invasive adenocarcinoma(274;1.49e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0525) GAAAGCATAAGAGATAAGGAC 0.448000 18 12 0 0 0.00136819 0 0 TMEM74 157753 broad.mit.edu 37 8 109797193 109797193 + Silent SNP C T T TCGA-EE-A3AC-06A-11D-A196-08 TCGA-EE-A3AC-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 883d623b-c427-4444-9ee3-66d18648130f f8f00311-8db5-4187-bcb8-5054d9fbdac3 g.chr8:109797193C>T uc003ymy.1 - 1 240 c.135G>A c.(133-135)caG>caA p.Q45Q TMEM74_uc003ymx.3_Intron|TMEM74_uc022azr.1_Silent_p.Q45Q NM_153015 NP_694560 Q96NL1 TMM74_HUMAN Homo sapiens transmembrane protein 74 (TMEM74), mRNA. 45 autophagy autophagic vacuole membrane|cytoplasmic vesicle|integral to membrane|lysosomal membrane breast(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(12)|ovary(1)|prostate(3)|skin(2)|urinary_tract(1) 29 OV - Ovarian serous cystadenocarcinoma(57;3.08e-10) TGGATGCACACTGTTTCTGAC 0.547000 53 30 0 0 0.00209593 0 0 SEC23B 10483 broad.mit.edu 37 20 18507066 18507066 + Missense_Mutation SNP C T T TCGA-EE-A3AC-06A-11D-A196-08 TCGA-EE-A3AC-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 883d623b-c427-4444-9ee3-66d18648130f f8f00311-8db5-4187-bcb8-5054d9fbdac3 g.chr20:18507066C>T uc002wra.2 + 7 1345 c.884C>T c.(883-885)cCc>cTc p.P295L SEC23B_uc010zsb.2_Missense_Mutation_p.P277L|SEC23B_uc002wrb.2_Missense_Mutation_p.P295L|SEC23B_uc002wqz.2_Missense_Mutation_p.P295L|SEC23B_uc002wrc.2_Missense_Mutation_p.P295L NM_032985 NP_116781 Q15437 SC23B_HUMAN Homo sapiens Sec23 homolog B (S. cerevisiae) (SEC23B), transcript variant 2, mRNA. 295 ER to Golgi vesicle-mediated transport|intracellular protein transport COPII vesicle coat|ER-Golgi intermediate compartment membrane|Golgi membrane|endoplasmic reticulum membrane zinc ion binding breast(1)|central_nervous_system(1)|endometrium(3)|large_intestine(6)|liver(2)|lung(14)|ovary(1)|pancreas(1)|prostate(2)|skin(1) 32 ACTGGAGGTCCCCCTACCCAA 0.438000 24 20 0 0 0.000958276 0 0 DPY19L3 147991 broad.mit.edu 37 19 32973073 32973073 + Missense_Mutation SNP C T T TCGA-EE-A3AC-06A-11D-A196-08 TCGA-EE-A3AC-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 883d623b-c427-4444-9ee3-66d18648130f f8f00311-8db5-4187-bcb8-5054d9fbdac3 g.chr19:32973073C>T uc002ntg.3 + 18 2276 c.2078C>T c.(2077-2079)cCc>cTc p.P693L DPY19L3_uc002nth.2_Missense_Mutation_p.P693L|DPY19L3_uc002nti.2_Non-coding_Transcript|DPY19L3_uc002ntj.2_Missense_Mutation_p.P115L NM_001172774 NP_997208 Q6ZPD9 D19L3_HUMAN Homo sapiens dpy-19-like 3 (C. elegans) (DPY19L3), transcript variant 2, mRNA. 693 integral to membrane breast(1)|endometrium(1)|kidney(3)|large_intestine(5)|lung(17)|ovary(4)|pancreas(1) 32 Esophageal squamous(110;0.162) AACCTGCCTCCCTACGTGGCC 0.463000 109 56 0 0 0.000781405 0 0 TLR1 7096 broad.mit.edu 37 4 38799295 38799295 + Silent SNP T C C TCGA-EE-A3AC-06A-11D-A196-08 TCGA-EE-A3AC-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 883d623b-c427-4444-9ee3-66d18648130f f8f00311-8db5-4187-bcb8-5054d9fbdac3 g.chr4:38799295T>C uc003gtl.3 - 3 1432 c.1158A>G c.(1156-1158)gaA>gaG p.E386E TLR1_uc021xnn.1_Silent_p.E386E NM_003263 NP_003254 Q15399 TLR1_HUMAN Homo sapiens toll-like receptor 1 (TLR1), mRNA. 386 cellular response to triacyl bacterial lipopeptide|detection of triacyl bacterial lipopeptide|inflammatory response|innate immune response|macrophage activation|positive regulation of interleukin-6 biosynthetic process|positive regulation of tumor necrosis factor biosynthetic process Toll-like receptor 1-Toll-like receptor 2 protein complex|integral to plasma membrane|phagocytic vesicle membrane protein heterodimerization activity|transmembrane receptor activity cervix(1)|endometrium(1)|kidney(1)|large_intestine(6)|lung(11)|ovary(1)|prostate(1)|skin(4)|stomach(2) 28 TTTTTGAAAGTTCTTTTAATT 0.333000 21 13 0 0 0.00136819 0 0 ATN1 1822 broad.mit.edu 37 12 7050626 7050626 + Missense_Mutation SNP C A A TCGA-EE-A3AC-06A-11D-A196-08 TCGA-EE-A3AC-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 883d623b-c427-4444-9ee3-66d18648130f f8f00311-8db5-4187-bcb8-5054d9fbdac3 g.chr12:7050626C>A uc001qrw.1 + 8 3685 c.3448C>A c.(3448-3450)Ctg>Atg p.L1150M ATN1_uc001qrx.1_Missense_Mutation_p.L1150M|C12orf57_uc009zfj.1_5'Flank|C12orf57_uc001qrz.3_5'Flank NM_001007026 NP_001931 P54259 ATN1_HUMAN Homo sapiens atrophin 1 (ATN1), transcript variant 1, mRNA. 1150 cell death|central nervous system development cytoplasm|nucleus protein domain specific binding p.E1149A(1) breast(5)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(4)|lung(15)|ovary(2)|pancreas(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(2) 40 GTCAGCTGAGCTGCAGCGCTT 0.647000 43 32 2.47316e-13 1.13801e-12 0.00058488 1 0 FAF2 23197 broad.mit.edu 37 5 175919263 175919263 + Missense_Mutation SNP C T T TCGA-EE-A3AC-06A-11D-A196-08 TCGA-EE-A3AC-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 883d623b-c427-4444-9ee3-66d18648130f f8f00311-8db5-4187-bcb8-5054d9fbdac3 g.chr5:175919263C>T uc003mej.4 + 4 466 c.413C>T c.(412-414)tCa>tTa p.S138L NM_014613 NP_055428 Q96CS3 FAF2_HUMAN Homo sapiens Fas associated factor family member 2 (FAF2), mRNA. 138 response to unfolded protein endoplasmic reticulum|lipid particle protein binding breast(1)|large_intestine(3)|lung(4)|ovary(1)|skin(1) 10 GACATTGTTTCATTTATGCAC 0.488000 41 30 0 0 0.00178596 0 0 FAM184A 79632 broad.mit.edu 37 6 119324215 119324215 + Splice_Site SNP C T T TCGA-EE-A3AC-06A-11D-A196-08 TCGA-EE-A3AC-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 883d623b-c427-4444-9ee3-66d18648130f f8f00311-8db5-4187-bcb8-5054d9fbdac3 g.chr6:119324215C>T uc003pyj.3 - 9 2286 c.1938_splice c.e9-1 p.R646_splice FAM184A_uc003pyk.4_Splice_Site_p.R526_splice|FAM184A_uc003pyl.4_Splice_Site_p.R526_splice NM_024581 NP_078857 Q8NB25 F184A_HUMAN Homo sapiens family with sequence similarity 184, member A (FAM184A), transcript variant 1, mRNA. 646 breast(2)|central_nervous_system(2)|endometrium(2)|kidney(5)|large_intestine(19)|lung(13)|ovary(2)|pancreas(1)|prostate(1)|skin(5) 52 ACACTCTTGTCTAAAATAAAA 0.338000 10 17 0 0 0.00188189 0 0 ABCC1 4363 broad.mit.edu 37 16 16177255 16177255 + Nonsense_Mutation SNP G A A TCGA-EE-A3AC-06A-11D-A196-08 TCGA-EE-A3AC-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 883d623b-c427-4444-9ee3-66d18648130f f8f00311-8db5-4187-bcb8-5054d9fbdac3 g.chr16:16177255G>A uc010bvi.3 + 16 2323 c.2148G>A c.(2146-2148)tgG>tgA p.W716* ABCC1_uc010bvj.3_Intron|ABCC1_uc010bvk.3_Nonsense_Mutation_p.W716*|ABCC1_uc010bvl.3_Nonsense_Mutation_p.W716*|ABCC1_uc010bvm.3_Intron|ABCC1_uc002del.4_Nonsense_Mutation_p.W600* NM_004996 NP_004987 P33527 MRP1_HUMAN Homo sapiens ATP-binding cassette, sub-family C (CFTR/MRP), member 1 (ABCC1), transcript variant 1, mRNA. 716 ABC transporter 1. hormone biosynthetic process|leukotriene biosynthetic process|prostanoid metabolic process|response to drug Golgi apparatus|integral to plasma membrane|membrane fraction|nucleus ATP binding|ATPase activity, coupled to transmembrane movement of substances breast(3)|endometrium(9)|kidney(3)|large_intestine(12)|lung(20)|ovary(5)|prostate(1)|skin(3) 56 Daunorubicin(DB00694)|Glibenclamide(DB01016)|Probenecid(DB01032)|Saquinavir(DB01232)|Sulfinpyrazone(DB01138) AGCAGGCCTGGATTCAGAATG 0.517000 46 24 0 0 0.000586117 0 0 GHR 2690 broad.mit.edu 37 5 42700087 42700087 + Missense_Mutation SNP G A A TCGA-EE-A3AC-06A-11D-A196-08 TCGA-EE-A3AC-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 883d623b-c427-4444-9ee3-66d18648130f f8f00311-8db5-4187-bcb8-5054d9fbdac3 g.chr5:42700087G>A uc021xxv.1 + 5 759 c.622G>A c.(622-624)Gaa>Aaa p.E208K GHR_uc003jmt.3_Missense_Mutation_p.E201K|GHR_uc003jmu.3_Missense_Mutation_p.E201K|GHR_uc003jmv.2_Missense_Mutation_p.E201K|GHR_uc021xxw.1_Missense_Mutation_p.E201K|GHR_uc021xxx.1_Missense_Mutation_p.E201K|GHR_uc021xxy.1_Missense_Mutation_p.E201K|GHR_uc021xxz.1_Missense_Mutation_p.E201K|GHR_uc021xya.1_Missense_Mutation_p.E201K|GHR_uc021xyb.1_Missense_Mutation_p.E201K|GHR_uc021xyc.1_Missense_Mutation_p.E201K|GHR_uc011cpq.2_Missense_Mutation_p.E14K|GHR_uc021xyd.1_Missense_Mutation_p.E179K NM_001242399 NP_001229328 P10912 GHR_HUMAN Homo sapiens growth hormone receptor (GHR), transcript variant 2, mRNA. 201 Fibronectin type-III. 2-oxoglutarate metabolic process|JAK-STAT cascade|activation of JAK2 kinase activity|activation of MAPK activity|allantoin metabolic process|citrate metabolic process|creatine metabolic process|creatinine metabolic process|endocytosis|fatty acid metabolic process|growth hormone receptor signaling pathway|insulin-like growth factor receptor signaling pathway|isoleucine metabolic process|multicellular organismal metabolic process|oxaloacetate metabolic process|positive regulation of multicellular organism growth|positive regulation of tyrosine phosphorylation of Stat3 protein|positive regulation of tyrosine phosphorylation of Stat5 protein|receptor internalization|response to cycloheximide|response to estradiol stimulus|succinate metabolic process|taurine metabolic process|valine metabolic process cell surface|extracellular space|growth hormone receptor complex|integral to plasma membrane growth factor binding|peptide hormone binding|proline-rich region binding|protein homodimerization activity|protein kinase binding NS(2)|endometrium(2)|kidney(3)|large_intestine(8)|lung(19)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1) 39 Myeloproliferative disorder(839;0.00878) Pegvisomant(DB00082)|Somatropin recombinant(DB00052) AGAAGTAAATGAAACTAAATG 0.358000 12 6 0 0 0.00198382 0 0 PALMD 54873 broad.mit.edu 37 1 100154993 100154993 + Missense_Mutation SNP G A A TCGA-EE-A3AC-06A-11D-A196-08 TCGA-EE-A3AC-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 883d623b-c427-4444-9ee3-66d18648130f f8f00311-8db5-4187-bcb8-5054d9fbdac3 g.chr1:100154993G>A uc001dsg.3 + 6 1620 c.1177G>A c.(1177-1179)Gaa>Aaa p.E393K NM_017734 NP_060204 Q9NP74 PALMD_HUMAN Homo sapiens palmdelphin (PALMD), mRNA. 393 regulation of cell shape cytoplasm|membrane central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(9)|lung(8)|ovary(6)|pancreas(1)|prostate(2) 31 all_epithelial(167;0.000813)|all_lung(203;0.0214)|Lung NSC(277;0.0216) Epithelial(280;0.067)|all cancers(265;0.117)|COAD - Colon adenocarcinoma(174;0.142)|Lung(183;0.201) GGAGGACGAGGAAGATGTCAG 0.463000 13 9 0 0 0.000274275 0 0 SELL 6402 broad.mit.edu 37 1 169677719 169677719 + Missense_Mutation SNP T C C TCGA-EE-A3AC-06A-11D-A196-08 TCGA-EE-A3AC-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 883d623b-c427-4444-9ee3-66d18648130f f8f00311-8db5-4187-bcb8-5054d9fbdac3 g.chr1:169677719T>C uc010pls.2 - 0 279 c.170A>G c.(169-171)aAc>aGc p.N57S C1orf112_uc001ggj.3_Intron|SELL_uc001ggk.3_Missense_Mutation_p.N117S|SELL_uc001ggl.2_Missense_Mutation_p.N117S NM_000655 NP_000646 P14151 LYAM1_HUMAN Homo sapiens selectin L (SELL), transcript variant 1, mRNA. 104 C-type lectin. blood coagulation|cell adhesion|leukocyte migration|regulation of immune response integral to plasma membrane glycosphingolipid binding|heparin binding|protease binding|sugar binding NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|kidney(2)|large_intestine(3)|lung(5)|urinary_tract(1) 15 all_hematologic(923;0.208) AAGAGATTTGTTGGTTCCCAC 0.458000 26 6 0 0 0.00198382 0 0 ZNF709 163051 broad.mit.edu 37 19 12637887 12637887 + Silent SNP G A A TCGA-EE-A3AC-06A-11D-A196-08 TCGA-EE-A3AC-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 883d623b-c427-4444-9ee3-66d18648130f f8f00311-8db5-4187-bcb8-5054d9fbdac3 g.chr19:12637887G>A uc002mty.3 - 3 1245 c.1035C>T c.(1033-1035)acC>acT p.T345T ZNF709_uc002mtx.4_Intron NM_144976 NP_659413 Q8N972 ZN709_HUMAN Homo sapiens zinc finger protein 564 (ZNF564), mRNA. 400 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding large_intestine(3)|upper_aerodigestive_tract(3) 6 AAGAACTGAAGGTTTTACCAC 0.408000 32 17 0 0 0.00152264 0 0 NACC2 138151 broad.mit.edu 37 9 138905067 138905067 + Silent SNP G A A TCGA-EE-A3AC-06A-11D-A196-08 TCGA-EE-A3AC-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 883d623b-c427-4444-9ee3-66d18648130f f8f00311-8db5-4187-bcb8-5054d9fbdac3 g.chr9:138905067G>A uc004cgv.4 - 4 1389 c.1233C>T c.(1231-1233)agC>agT p.S411S NACC2_uc010nbh.3_Silent_p.S50S NM_144653 NP_653254 Q96BF6 NACC2_HUMAN Homo sapiens NACC family member 2, BEN and BTB (POZ) domain containing (NACC2), mRNA. 411 BEN. negative regulation of transcription, DNA-dependent|positive regulation of cell proliferation|protein homooligomerization nuclear body endometrium(2)|kidney(1)|lung(1)|urinary_tract(1) 5 TCAGGACCCGGCTGTCCAGCG 0.682000 66 27 0 0 0.0024448 0 0 ABCA6 23460 broad.mit.edu 37 17 67110993 67110993 + Silent SNP G A A TCGA-EE-A3AC-06A-11D-A196-08 TCGA-EE-A3AC-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 883d623b-c427-4444-9ee3-66d18648130f f8f00311-8db5-4187-bcb8-5054d9fbdac3 g.chr17:67110993G>A uc002jhw.1 - 12 1867 c.1692C>T c.(1690-1692)ttC>ttT p.F564F NM_080284 NP_525023 Q8N139 ABCA6_HUMAN Homo sapiens ATP-binding cassette, sub-family A (ABC1), member 6 (ABCA6), mRNA. 564 ABC transporter 1. transport integral to membrane ATP binding|ATPase activity p.F564L(2) breast(6)|endometrium(5)|kidney(17)|large_intestine(18)|lung(20)|ovary(3)|prostate(2)|skin(5)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(1) 82 Breast(10;5.65e-12) ATTGAACATTGAATTGAGGAC 0.383000 33 14 0 0 0.00185496 0 0 YPEL1 29799 broad.mit.edu 37 22 22057767 22057768 + Splice_Site DNP CC TT TT TCGA-EE-A3AC-06A-11D-A196-08 TCGA-EE-A3AC-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 883d623b-c427-4444-9ee3-66d18648130f f8f00311-8db5-4187-bcb8-5054d9fbdac3 g.chr22:22057767_22057768CC>TT uc002zvl.3 - 4 494 c.162_splice c.e4-1 p.V54_splice YPEL1_uc002zvm.3_Splice_Site NM_013313 NP_037445 O60688 YPEL1_HUMAN Homo sapiens yippee-like 1 (Drosophila) (YPEL1), mRNA. 54 nucleus breast(1)|large_intestine(1)|lung(1) 3 Colorectal(54;0.105) CCACGTTCACCCTGCGGGGACA 0.698000 30 16 0 0 6.4e-05 0 0 FGF5 2250 broad.mit.edu 37 4 81207508 81207508 + Silent SNP G A A TCGA-EE-A3AC-06A-11D-A196-08 TCGA-EE-A3AC-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 883d623b-c427-4444-9ee3-66d18648130f f8f00311-8db5-4187-bcb8-5054d9fbdac3 g.chr4:81207508G>A uc003hmd.3 + 2 726 c.489G>A c.(487-489)agG>agA p.R163R FGF5_uc003hme.3_3'UTR NM_004464 NP_004455 P12034 FGF5_HUMAN Homo sapiens fibroblast growth factor 5 (FGF5), transcript variant 1, mRNA. 163 cell proliferation|cell-cell signaling|fibroblast growth factor receptor signaling pathway|insulin receptor signaling pathway|positive regulation of cell division|positive regulation of cell proliferation extracellular space fibroblast growth factor receptor binding|growth factor activity breast(2)|endometrium(3)|kidney(1)|large_intestine(4)|lung(8)|ovary(1)|skin(2)|upper_aerodigestive_tract(1) 22 GCAAGTTCAGGGAGCGTTTTC 0.393000 83 61 0 0 0.000781405 0 0 ARHGAP33 115703 broad.mit.edu 37 19 36278120 36278120 + Missense_Mutation SNP C T T TCGA-EE-A3AC-06A-11D-A196-08 TCGA-EE-A3AC-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 883d623b-c427-4444-9ee3-66d18648130f f8f00311-8db5-4187-bcb8-5054d9fbdac3 g.chr19:36278120C>T uc002obs.2 + 20 2314 c.2170C>T c.(2170-2172)Cct>Tct p.P724S ARHGAP33_uc002obt.2_Missense_Mutation_p.P749S|ARHGAP33_uc002obv.1_Missense_Mutation_p.P473S NM_052948 NP_443180 O14559 RHG33_HUMAN Homo sapiens Rho GTPase activating protein 33 (ARHGAP33), transcript variant 1, mRNA. 772 cell communication|protein transport|signal transduction intracellular GTPase activator activity|phosphatidylinositol binding|protein binding endometrium(7)|large_intestine(8)|lung(13)|ovary(1)|pancreas(1)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(2) 37 TCTCCTGCGCCCTGGGGGTGC 0.657000 30 16 0 0 0.00074312 0 0 GALNT4 8693 broad.mit.edu 37 12 89917791 89917791 + Missense_Mutation SNP C T T TCGA-EE-A3AC-06A-11D-A196-08 TCGA-EE-A3AC-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 883d623b-c427-4444-9ee3-66d18648130f f8f00311-8db5-4187-bcb8-5054d9fbdac3 g.chr12:89917791C>T uc001tbd.3 - 0 793 c.536G>A c.(535-537)aGa>aAa p.R179K GALNT4_uc001tba.3_Intron|GALNT4_uc001tbb.3_Intron|GALNT4_uc010sun.2_Intron|GALNT4_uc001tbc.3_Intron|GALNT4_uc001tbe.3_Missense_Mutation_p.R176K|GALNT4_uc010suo.2_Intron NM_003774 NP_003765 Q8N4A0 GALT4_HUMAN Homo sapiens UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase 4 (GalNAc-T4) (GALNT4), mRNA. 179 Catalytic subdomain A. carbohydrate metabolic process Golgi membrane|integral to membrane|perinuclear region of cytoplasm polypeptide N-acetylgalactosaminyltransferase activity|sugar binding endometrium(4)|kidney(2)|lung(5)|prostate(2)|upper_aerodigestive_tract(1) 14 CAAATAAACTCTGTCACTCAA 0.443000 OREG0022018 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 43 32 0 0 0.001512 0 0 CACNA1E 777 broad.mit.edu 37 1 181767462 181767462 + Missense_Mutation SNP C T T TCGA-EE-A3AC-06A-11D-A196-08 TCGA-EE-A3AC-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 883d623b-c427-4444-9ee3-66d18648130f f8f00311-8db5-4187-bcb8-5054d9fbdac3 g.chr1:181767462C>T uc009wxt.3 + 47 6629 c.6434C>T c.(6433-6435)tCt>tTt p.S2145F CACNA1E_uc001gow.3_Missense_Mutation_p.S2102F|CACNA1E_uc009wxs.3_Missense_Mutation_p.S2083F NM_001205293 NP_001192222 Q15878 CAC1E_HUMAN Homo sapiens calcium channel, voltage-dependent, R type, alpha 1E subunit (CACNA1E), transcript variant 1, mRNA. 2145 energy reserve metabolic process|membrane depolarization|synaptic transmission voltage-gated calcium channel complex voltage-gated calcium channel activity NS(2)|breast(9)|central_nervous_system(3)|cervix(1)|endometrium(22)|haematopoietic_and_lymphoid_tissue(6)|kidney(4)|large_intestine(34)|lung(99)|ovary(6)|pancreas(1)|prostate(9)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2) 204 TCCATCCCCTCTGTCTCTGAC 0.572000 121 44 0 0 0.000781405 0 0 CDKL1 8814 broad.mit.edu 37 14 50807787 50807787 + Silent SNP C T T TCGA-EE-A3AC-06A-11D-A196-08 TCGA-EE-A3AC-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 883d623b-c427-4444-9ee3-66d18648130f f8f00311-8db5-4187-bcb8-5054d9fbdac3 g.chr14:50807787C>T uc010anu.2 - 17 2634 c.2634G>A c.(2632-2634)tcG>tcA p.S878S CDKL1_uc001wxz.3_Silent_p.S207S NM_004196 NP_004187 Q00532 CDKL1_HUMAN Homo sapiens cyclin-dependent kinase-like 1 (CDC2-related kinase) (CDKL1), mRNA. 206 cytoplasm|nucleus ATP binding|cyclin-dependent protein kinase activity endometrium(1)|large_intestine(4)|lung(5)|ovary(1)|stomach(1) 12 all_epithelial(31;0.000746)|Breast(41;0.0102) GATCCACATCCGATTTTCCTG 0.542000 24 13 0 0 0.000219431 0 0 MGAM 8972 broad.mit.edu 37 7 141759659 141759659 + Missense_Mutation SNP C T T TCGA-EE-A3AC-06A-11D-A196-08 TCGA-EE-A3AC-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 883d623b-c427-4444-9ee3-66d18648130f f8f00311-8db5-4187-bcb8-5054d9fbdac3 g.chr7:141759659C>T uc003vwy.3 + 32 4006 c.3952C>T c.(3952-3954)Cca>Tca p.P1318S NM_004668 NP_004659 O43451 MGA_HUMAN Homo sapiens maltase-glucoamylase (alpha-glucosidase) (MGAM), mRNA. 1318 Glucoamylase. polysaccharide digestion|starch catabolic process apical plasma membrane|integral to membrane carbohydrate binding|glucan 1,4-alpha-glucosidase activity|maltose alpha-glucosidase activity cervix(1)|endometrium(1)|large_intestine(4)|lung(3)|ovary(2)|skin(2) 13 Melanoma(164;0.0272) Acarbose(DB00284)|Miglitol(DB00491)|Voglibose(DB04878) ATTTCAGGATCCAGCCATTTC 0.478000 8 7 0 0 0.000274275 0 0 CACHD1 57685 broad.mit.edu 37 1 65099822 65099822 + Silent SNP G A A TCGA-EE-A3AC-06A-11D-A196-08 TCGA-EE-A3AC-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 883d623b-c427-4444-9ee3-66d18648130f f8f00311-8db5-4187-bcb8-5054d9fbdac3 g.chr1:65099822G>A uc001dbo.1 + 6 837 c.732G>A c.(730-732)agG>agA p.R244R CACHD1_uc001dbp.1_5'UTR|CACHD1_uc001dbq.1_5'UTR NM_020925 NP_065976 Q5VU97 CAHD1_HUMAN Homo sapiens cache domain containing 1 (CACHD1), mRNA. 295 VWFA. calcium ion transport integral to membrane breast(4)|endometrium(3)|kidney(3)|large_intestine(20)|lung(14)|ovary(2)|pancreas(1)|prostate(5)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 55 AGACAAAAAGGAAAATGTCCA 0.473000 33 32 0 0 0.00209593 0 0 NCOA6 23054 broad.mit.edu 37 20 33329375 33329375 + Missense_Mutation SNP G A A TCGA-EE-A3AC-06A-11D-A196-08 TCGA-EE-A3AC-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 883d623b-c427-4444-9ee3-66d18648130f f8f00311-8db5-4187-bcb8-5054d9fbdac3 g.chr20:33329375G>A uc002xav.3 - 11 7256 c.4685C>T c.(4684-4686)cCc>cTc p.P1562L NCOA6_uc002xaw.3_Missense_Mutation_p.P1562L|NCOA6_uc021wcd.1_Intron|NCOA6_uc021wce.1_Missense_Mutation_p.P1562L|NCOA6_uc021wcf.1_Intron NM_014071 NP_054790 Q14686 NCOA6_HUMAN Homo sapiens nuclear receptor coactivator 6 (NCOA6), transcript variant 1, mRNA. 1562 DNA recombination|DNA repair|DNA replication|brain development|cellular lipid metabolic process|estrogen receptor signaling pathway|glucocorticoid receptor signaling pathway|heart development|myeloid cell differentiation|positive regulation of transcription from RNA polymerase II promoter|response to hormone stimulus|transcription initiation from RNA polymerase II promoter transcription factor complex chromatin binding|enzyme binding|estrogen receptor binding|ligand-dependent nuclear receptor transcription coactivator activity|retinoid X receptor binding|thyroid hormone receptor binding p.P1562P(1) NS(2)|breast(6)|central_nervous_system(3)|cervix(1)|endometrium(9)|kidney(8)|large_intestine(16)|lung(37)|ovary(4)|prostate(5)|skin(13)|upper_aerodigestive_tract(2)|urinary_tract(1) 107 ACTCAATTCGGGATGCACAAG 0.463000 77 172 0 0 0.000781405 0 0 SELP 6403 broad.mit.edu 37 1 169578856 169578856 + Nonsense_Mutation SNP G A A TCGA-EE-A3AC-06A-11D-A196-08 TCGA-EE-A3AC-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 883d623b-c427-4444-9ee3-66d18648130f f8f00311-8db5-4187-bcb8-5054d9fbdac3 g.chr1:169578856G>A uc001ggi.4 - 7 1284 c.1219C>T c.(1219-1221)Cag>Tag p.Q407* SELP_uc001ggh.3_Nonsense_Mutation_p.Q242*|SELP_uc009wvr.3_Nonsense_Mutation_p.Q407* NM_003005 NP_002996 P16109 LYAM3_HUMAN Homo sapiens selectin P (granule membrane protein 140kDa, antigen CD62) (SELP), mRNA. 407 Sushi 4. platelet activation|platelet degranulation|positive regulation of platelet activation external side of plasma membrane|extracellular space|integral to plasma membrane|membrane fraction|platelet alpha granule membrane|platelet dense granule membrane|soluble fraction fucose binding|glycosphingolipid binding|heparin binding|lipopolysaccharide binding|oligosaccharide binding|sialic acid binding breast(1)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(9)|lung(32)|ovary(4)|pancreas(1)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1) 60 all_hematologic(923;0.208) Clopidogrel(DB00758)|Heparin(DB01109)|Tirofiban(DB00775) GTGTCATACTGAAACGCTCTC 0.502000 32 13 0 0 0.000219431 0 0 BAI3 577 broad.mit.edu 37 6 70037717 70037717 + Missense_Mutation SNP C T T TCGA-EE-A3AC-06A-11D-A196-08 TCGA-EE-A3AC-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 883d623b-c427-4444-9ee3-66d18648130f f8f00311-8db5-4187-bcb8-5054d9fbdac3 g.chr6:70037717C>T uc010kak.3 + 20 3247 c.2971C>T c.(2971-2973)Cca>Tca p.P991S BAI3_uc003pev.4_Missense_Mutation_p.P991S|BAI3_uc011dxx.2_Missense_Mutation_p.P197S NM_001704 NP_001695 O60242 BAI3_HUMAN Homo sapiens brain-specific angiogenesis inhibitor 3 (BAI3), mRNA. 991 negative regulation of angiogenesis|neuropeptide signaling pathway integral to membrane|plasma membrane G-protein coupled receptor activity NS(2)|breast(4)|central_nervous_system(5)|endometrium(5)|kidney(2)|large_intestine(28)|liver(1)|lung(111)|ovary(10)|pancreas(4)|prostate(7)|skin(22)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(4) 210 all_lung(197;0.212) TGCAGGTTTACCAGCATTAGT 0.393000 2 13 0 0 0.00185496 0 0 OR6S1 341799 broad.mit.edu 37 14 21109460 21109460 + Missense_Mutation SNP G A A TCGA-EE-A3AC-06A-11D-A196-08 TCGA-EE-A3AC-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 883d623b-c427-4444-9ee3-66d18648130f f8f00311-8db5-4187-bcb8-5054d9fbdac3 g.chr14:21109460G>A uc001vxv.1 - 0 391 c.391C>T c.(391-393)Cct>Tct p.P131S NM_001001968 NP_001001968 Q8NH40 OR6S1_HUMAN Homo sapiens olfactory receptor, family 6, subfamily S, member 1 (OR6S1), mRNA. 131 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity kidney(1)|large_intestine(3)|lung(13)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2) 23 all_cancers(95;0.00304) Epithelial(56;1.23e-06)|all cancers(55;1.01e-05) GBM - Glioblastoma multiforme(265;0.0135) TAGCGCAGAGGATGACAGATG 0.572000 21 4 0 0 0.000602214 0 0 DNAJC1 64215 broad.mit.edu 37 10 22048376 22048376 + Missense_Mutation SNP G A A TCGA-EE-A3AC-06A-11D-A196-08 TCGA-EE-A3AC-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 883d623b-c427-4444-9ee3-66d18648130f f8f00311-8db5-4187-bcb8-5054d9fbdac3 g.chr10:22048376G>A uc001irc.3 - 10 1606 c.1319C>T c.(1318-1320)gCc>gTc p.A440V NM_022365 NP_071760 Q96KC8 DNJC1_HUMAN Homo sapiens DnaJ (Hsp40) homolog, subfamily C, member 1 (DNAJC1), mRNA. 440 negative regulation of proteolysis|regulation of protein secretion|regulation of transcription, DNA-dependent endoplasmic reticulum membrane|integral to membrane|microsome|nuclear membrane ATPase activator activity|DNA binding|heat shock protein binding|unfolded protein binding p.D439N(2) cervix(1)|endometrium(1)|large_intestine(2)|lung(13)|skin(2)|upper_aerodigestive_tract(2) 21 Breast(68;0.00869)|Prostate(175;0.0181)|Lung SC(717;0.0262) CCGAGGCCGGGCATCAGTGGC 0.657000 31 19 0 0 0.00152264 0 0 TMPRSS11A 339967 broad.mit.edu 37 4 68797744 68797744 + Missense_Mutation SNP T A A TCGA-EE-A3AC-06A-11D-A196-08 TCGA-EE-A3AC-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 883d623b-c427-4444-9ee3-66d18648130f f8f00311-8db5-4187-bcb8-5054d9fbdac3 g.chr4:68797744T>A uc003hdr.1 - 3 417 c.296A>T c.(295-297)aAa>aTa p.K99I LOC550112_uc003hdl.4_Intron|TMPRSS11A_uc003hds.1_Missense_Mutation_p.K96I NM_182606 NP_872412 Q6ZMR5 TM11A_HUMAN Homo sapiens transmembrane protease, serine 11A (TMPRSS11A), transcript variant 1, mRNA. 99 SEA. cell cycle|proteolysis extracellular region|integral to plasma membrane serine-type endopeptidase activity breast(1)|cervix(2)|kidney(1)|large_intestine(8)|lung(11)|prostate(1)|skin(2)|stomach(2)|upper_aerodigestive_tract(1) 29 GATATAATTTTTCTTCCAGGC 0.353000 37 21 0 0 0.000720815 0 0 NUP214 8021 broad.mit.edu 37 9 134072702 134072702 + Missense_Mutation SNP C T T TCGA-EE-A3AC-06A-11D-A196-08 TCGA-EE-A3AC-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 883d623b-c427-4444-9ee3-66d18648130f f8f00311-8db5-4187-bcb8-5054d9fbdac3 g.chr9:134072702C>T uc004cag.3 + 28 3932 c.3821C>T c.(3820-3822)cCc>cTc p.P1274L NUP214_uc004cah.3_Missense_Mutation_p.P1264L|NUP214_uc004cai.3_Missense_Mutation_p.P704L|NUP214_uc010mzg.3_Non-coding_Transcript|NUP214_uc011mcg.2_Missense_Mutation_p.P100L|NUP214_uc011mcf.1_Missense_Mutation_p.P51L|NUP214_uc010mzh.1_5'UTR|NUP214_uc010mzi.1_5'UTR NM_005085 NP_005076 P35658 NU214_HUMAN Homo sapiens nucleoporin 214kDa (NUP214), mRNA. 1274 11 X 5 AA approximate repeats.|Pro/Ser/Thr-rich. carbohydrate metabolic process|glucose transport|mRNA metabolic process|protein export from nucleus|regulation of glucose transport|transmembrane transport|viral reproduction cytosol|nuclear pore|nucleoplasm protein binding NS(1)|breast(9)|central_nervous_system(3)|endometrium(13)|kidney(2)|large_intestine(9)|liver(2)|lung(29)|ovary(2)|prostate(3)|skin(7)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(2) 86 all_hematologic(7;0.0028) Myeloproliferative disorder(178;0.204) OV - Ovarian serous cystadenocarcinoma(145;3.42e-05)|Epithelial(140;0.000256) AGCTCACCTCCCTCAGGAATC 0.557000 T """DEK, SET, ABL1""" """AML, T-ALL""" 34 25 0 0 0.000586117 0 0 C1orf129 80133 broad.mit.edu 37 1 170931075 170931075 + Silent SNP G A A TCGA-EE-A3AC-06A-11D-A196-08 TCGA-EE-A3AC-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 883d623b-c427-4444-9ee3-66d18648130f f8f00311-8db5-4187-bcb8-5054d9fbdac3 g.chr1:170931075G>A uc010plz.2 + 5 487 c.333G>A c.(331-333)acG>acA p.T111T C1orf129_uc001ghg.3_Silent_p.T111T|C1orf129_uc009wvy.3_5'UTR NM_001163629 NP_001157101 Q5TGP6 CA129_HUMAN Homo sapiens chromosome 1 open reading frame 129 (C1orf129), transcript variant 1, mRNA. 111 binding p.T111T(2)|p.T111M(1) breast(2)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(12)|lung(16)|pancreas(1)|prostate(1)|skin(3) 45 all_hematologic(923;0.0922)|Acute lymphoblastic leukemia(37;0.181) ACATTCTTACGAGCTTGGTGT 0.308000 37 14 0 0 0.00074312 0 0 TCEB3B 51224 broad.mit.edu 37 18 44561339 44561339 + Silent SNP G A A TCGA-EE-A3AC-06A-11D-A196-08 TCGA-EE-A3AC-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 883d623b-c427-4444-9ee3-66d18648130f f8f00311-8db5-4187-bcb8-5054d9fbdac3 g.chr18:44561339G>A uc002lcr.1 - 0 650 c.297C>T c.(295-297)ttC>ttT p.F99F KATNAL2_uc010dnq.1_Intron|KATNAL2_uc002lco.3_Intron NM_016427 NP_057511 Q8IYF1 ELOA2_HUMAN Homo sapiens transcription elongation factor B polypeptide 3B (elongin A2) (TCEB3B), mRNA. 99 regulation of transcription elongation, DNA-dependent|transcription from RNA polymerase II promoter integral to membrane|nucleus DNA binding breast(1)|cervix(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(15)|lung(24)|ovary(2)|pancreas(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 58 GAGCCTCCCCGAAGCGCTGTC 0.657000 33 20 0 0 0.00121646 0 0 ADAMTS15 170689 broad.mit.edu 37 11 130319456 130319456 + Silent SNP G A A TCGA-EE-A3AC-06A-11D-A196-08 TCGA-EE-A3AC-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 883d623b-c427-4444-9ee3-66d18648130f f8f00311-8db5-4187-bcb8-5054d9fbdac3 g.chr11:130319456G>A uc010scd.2 + 0 588 c.588G>A c.(586-588)gcG>gcA p.A196A NM_139055 NP_620686 Q8TE58 ATS15_HUMAN Homo sapiens ADAM metallopeptidase with thrombospondin type 1 motif, 15 (ADAMTS15), mRNA. 196 proteolysis proteinaceous extracellular matrix metalloendopeptidase activity|zinc ion binding endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(16)|pancreas(1)|prostate(1)|skin(8)|urinary_tract(1) 36 all_hematologic(175;0.0429) Lung NSC(97;0.000601)|Breast(109;0.000962)|all_lung(97;0.00125)|Medulloblastoma(222;0.0425)|all_neural(223;0.0837) OV - Ovarian serous cystadenocarcinoma(99;0.0631)|Lung(977;0.215) CGCGGCGGGCGGGCTTCGGGG 0.716000 9 5 0 0 0.000602214 0 0 SPAG17 200162 broad.mit.edu 37 1 118523897 118523897 + Silent SNP A T T TCGA-EE-A3AC-06A-11D-A196-08 TCGA-EE-A3AC-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 883d623b-c427-4444-9ee3-66d18648130f f8f00311-8db5-4187-bcb8-5054d9fbdac3 g.chr1:118523897A>T uc001ehk.2 - 42 6068 c.6000T>A c.(5998-6000)ccT>ccA p.P2000P SPAG17_uc021osr.1_Silent_p.P510P NM_206996 NP_996879 Q6Q759 SPG17_HUMAN Homo sapiens sperm associated antigen 17 (SPAG17), mRNA. 2000 cilium|flagellar axoneme|microtubule p.S1999Y(1) NS(1)|biliary_tract(1)|breast(2)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(30)|liver(2)|lung(56)|ovary(3)|prostate(5)|skin(5)|upper_aerodigestive_tract(6)|urinary_tract(1) 123 Esophageal squamous(2;0.0106) all_cancers(81;0.0204)|all_lung(203;9.46e-05)|Lung NSC(69;0.000675)|all_epithelial(167;0.01) Lung(183;0.0858) CCATACCTTCAGGAGATTTTG 0.393000 42 38 0 0 0.00222228 0 0 LOC441666 441666 broad.mit.edu 37 10 42832134 42832134 + RNA SNP T C C TCGA-EE-A3AC-06A-11D-A196-08 TCGA-EE-A3AC-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 883d623b-c427-4444-9ee3-66d18648130f f8f00311-8db5-4187-bcb8-5054d9fbdac3 g.chr10:42832134T>C uc010qey.2 - 2 c.1841A>G Homo sapiens zinc finger protein 91 pseudogene (LOC441666), non-coding RNA. TTGCCACATTTTTCACAATTG 0.353000 4 5 0 0 0.000602214 0 0 GPR124 25960 broad.mit.edu 37 8 37693275 37693275 + Silent SNP C T T TCGA-EE-A3AC-06A-11D-A196-08 TCGA-EE-A3AC-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 883d623b-c427-4444-9ee3-66d18648130f f8f00311-8db5-4187-bcb8-5054d9fbdac3 g.chr8:37693275C>T uc003xkj.3 + 12 2423 c.2037C>T c.(2035-2037)atC>atT p.I679I GPR124_uc010lvy.3_Intron NM_032777 NP_116166 Q96PE1 GP124_HUMAN Homo sapiens G protein-coupled receptor 124 (GPR124), mRNA. 679 central nervous system development|endothelial cell migration|neuropeptide signaling pathway|regulation of angiogenesis|regulation of chemotaxis|sprouting angiogenesis integral to membrane|plasma membrane G-protein coupled receptor activity central_nervous_system(1)|endometrium(5)|kidney(3)|large_intestine(4)|lung(16)|ovary(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(1) 37 BRCA - Breast invasive adenocarcinoma(5;2.75e-24)|LUSC - Lung squamous cell carcinoma(8;3.5e-10) CCCCCGTCATCTTCGCAGGAA 0.657000 5 8 0 0 0.000274275 0 0 CSMD3 114788 broad.mit.edu 37 8 113662482 113662482 + Missense_Mutation SNP A T T TCGA-EE-A3AC-06A-11D-A196-08 TCGA-EE-A3AC-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 883d623b-c427-4444-9ee3-66d18648130f f8f00311-8db5-4187-bcb8-5054d9fbdac3 g.chr8:113662482A>T uc003ynu.3 - 18 3260 c.3101T>A c.(3100-3102)tTt>tAt p.F1034Y CSMD3_uc003yns.3_Missense_Mutation_p.F306Y|CSMD3_uc003ynt.3_Missense_Mutation_p.F994Y|CSMD3_uc011lhx.2_Missense_Mutation_p.F930Y NM_198123 NP_937756 Q7Z407 CSMD3_HUMAN Homo sapiens CUB and Sushi multiple domains 3 (CSMD3), transcript variant a, mRNA. 1034 Sushi 5. integral to membrane|plasma membrane breast(7)|central_nervous_system(6)|endometrium(44)|haematopoietic_and_lymphoid_tissue(8)|kidney(36)|large_intestine(72)|liver(5)|lung(389)|ovary(24)|prostate(6)|skin(23)|upper_aerodigestive_tract(19)|urinary_tract(7) 646 ATCACAACTAAATGAAACAGT 0.453000 HNSCC(6;0.00088)|TCGA Ovarian(7;0.080) 53 46 0 0 0.000781405 0 0 NHLRC2 374354 broad.mit.edu 37 10 115661517 115661517 + Missense_Mutation SNP A G G TCGA-EE-A3AC-06A-11D-A196-08 TCGA-EE-A3AC-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 883d623b-c427-4444-9ee3-66d18648130f f8f00311-8db5-4187-bcb8-5054d9fbdac3 g.chr10:115661517A>G uc001lax.2 + 6 1473 c.1232A>G c.(1231-1233)cAa>cGa p.Q411R NHLRC2_uc001lay.2_Non-coding_Transcript NM_198514 NP_940916 Q8NBF2 NHLC2_HUMAN Homo sapiens NHL repeat containing 2 (NHLRC2), mRNA. 411 cell redox homeostasis breast(1)|endometrium(2)|kidney(4)|large_intestine(3)|lung(3)|ovary(1)|upper_aerodigestive_tract(1) 15 Epithelial(162;0.017)|all cancers(201;0.0187) GGTTTTGCCCAACCTTCAGGC 0.458000 110 48 0 0 0.000781405 0 0 PRIMA1 145270 broad.mit.edu 37 14 94245555 94245555 + Missense_Mutation SNP G C C TCGA-EE-A3AC-06A-11D-A196-08 TCGA-EE-A3AC-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 883d623b-c427-4444-9ee3-66d18648130f f8f00311-8db5-4187-bcb8-5054d9fbdac3 g.chr14:94245555G>C uc001ybw.1 - 2 238 c.196C>G c.(196-198)Ccc>Gcc p.P66A PRIMA1_uc001ybx.1_Non-coding_Transcript NM_178013 NP_821092 Q86XR5 PRIMA_HUMAN Homo sapiens proline rich membrane anchor 1 (PRIMA1), mRNA. 66 PRAD. neurotransmitter catabolic process cell junction|integral to membrane|synapse endometrium(1)|large_intestine(2)|lung(3)|skin(1) 7 all_cancers(154;0.127) Epithelial(152;0.138)|COAD - Colon adenocarcinoma(157;0.229) ggtggcgggggtgggggcggc 0.637000 0 2 0 0 6.4e-05 0 0 POLR1A 25885 broad.mit.edu 37 2 86272788 86272789 + Missense_Mutation DNP CC TA TA TCGA-EE-A3AC-06A-11D-A196-08 TCGA-EE-A3AC-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 883d623b-c427-4444-9ee3-66d18648130f f8f00311-8db5-4187-bcb8-5054d9fbdac3 g.chr2:86272788_86272789CC>TA uc002sqs.3 - 19 3216_3217 c.2837_2838GG>TA c.(2836-2838)agg>aTA p.R946I POLR1A_uc010ytb.2_Missense_Mutation_p.R312I|POLR1A_uc002sqt.1_5'Flank NM_015425 NP_056240 O95602 RPA1_HUMAN Homo sapiens polymerase (RNA) I polypeptide A, 194kDa (POLR1A), mRNA. 946 termination of RNA polymerase I transcription|transcription elongation from RNA polymerase I promoter|transcription initiation from RNA polymerase I promoter DNA-directed RNA polymerase I complex|nucleoplasm DNA binding|DNA-directed RNA polymerase activity|protein binding|zinc ion binding NS(1)|breast(4)|cervix(2)|endometrium(8)|kidney(3)|large_intestine(12)|liver(1)|lung(20)|ovary(3)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(5) 63 AGCCACCAGCCCTGGGGGTGAA 0.525000 51 48 0 0 6.4e-05 0 0 KRT31 3881 broad.mit.edu 37 17 39553173 39553173 + Silent SNP G A A TCGA-EE-A3AC-06A-11D-A196-08 TCGA-EE-A3AC-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 883d623b-c427-4444-9ee3-66d18648130f f8f00311-8db5-4187-bcb8-5054d9fbdac3 g.chr17:39553173G>A uc002hwn.3 - 1 476 c.423C>T c.(421-423)ttC>ttT p.F141F KRT31_uc010cxn.3_Silent_p.F141F NM_002277 NP_002268 Q15323 K1H1_HUMAN Homo sapiens keratin 31 (KRT31), mRNA. 141 Coil 1B.|Rod. epidermis development intermediate filament protein binding|structural constituent of cytoskeleton breast(2)|central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(6)|lung(7)|ovary(1)|pancreas(1)|prostate(2)|skin(1)|urinary_tract(1) 31 Breast(137;0.000496) ACTTGGTTCTGAAATCATCCG 0.458000 100 37 0 0 0.00195071 0 0 CCDC150 284992 broad.mit.edu 37 2 197590773 197590773 + Nonsense_Mutation SNP C T T TCGA-EE-A3AC-06A-11D-A196-08 TCGA-EE-A3AC-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 883d623b-c427-4444-9ee3-66d18648130f f8f00311-8db5-4187-bcb8-5054d9fbdac3 g.chr2:197590773C>T uc002utp.1 + 21 2641 c.2506C>T c.(2506-2508)Caa>Taa p.Q836* CCDC150_uc010zgs.1_Nonsense_Mutation_p.Q483*|CCDC150_uc010zgt.1_Nonsense_Mutation_p.Q253*|CCDC150_uc002utq.1_Nonsense_Mutation_p.Q151*|CCDC150_uc002utr.1_Nonsense_Mutation_p.Q151* NM_001080539 NP_001074008 Q8NCX0 CC150_HUMAN Homo sapiens coiled-coil domain containing 150 (CCDC150), mRNA. 836 breast(3)|endometrium(6)|kidney(1)|large_intestine(6)|lung(14)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1) 33 AAAGCAGTTTCAAACCGAGAG 0.428000 13 9 0 0 0.000274275 0 0 ANAPC1 64682 broad.mit.edu 37 2 112620119 112620119 + Missense_Mutation SNP T C C TCGA-EE-A3AC-06A-11D-A196-08 TCGA-EE-A3AC-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 883d623b-c427-4444-9ee3-66d18648130f f8f00311-8db5-4187-bcb8-5054d9fbdac3 g.chr2:112620119T>C uc002thi.3 - 9 1356 c.1109A>G c.(1108-1110)aAc>aGc p.N370S NM_022662 NP_073153 Q9H1A4 APC1_HUMAN Homo sapiens anaphase promoting complex subunit 1 (ANAPC1), mRNA. 370 anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|cell division|mitosis|mitotic cell cycle spindle assembly checkpoint|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|protein K11-linked ubiquitination anaphase-promoting complex|cytosol|nucleoplasm NS(1)|breast(1)|central_nervous_system(1)|cervix(2)|endometrium(6)|kidney(4)|large_intestine(7)|lung(16)|pancreas(1)|prostate(3)|skin(5)|stomach(1)|urinary_tract(1) 49 GCTTGAAATGTTGAACCTTTG 0.423000 20 3 0 0 0.00198382 0 0 CAMTA1 23261 broad.mit.edu 37 1 7723500 7723500 + Missense_Mutation SNP G A A TCGA-EE-A3AC-06A-11D-A196-08 TCGA-EE-A3AC-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 883d623b-c427-4444-9ee3-66d18648130f f8f00311-8db5-4187-bcb8-5054d9fbdac3 g.chr1:7723500G>A uc001aoi.3 + 8 1100 c.893G>A c.(892-894)gGg>gAg p.G298E NM_015215 NP_056030 Q9Y6Y1 CMTA1_HUMAN Homo sapiens calmodulin binding transcription activator 1 (CAMTA1), transcript variant 1, mRNA. 298 regulation of transcription, DNA-dependent|transcription, DNA-dependent cytoplasm|nucleus calmodulin binding breast(5)|central_nervous_system(4)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(11)|lung(29)|ovary(5)|pancreas(2)|prostate(4)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(3) 85 Ovarian(185;0.0634) all_epithelial(116;8.38e-23)|all_lung(118;5.87e-07)|Lung NSC(185;3.43e-06)|Renal(390;0.000219)|Breast(487;0.000307)|Colorectal(325;0.000615)|Hepatocellular(190;0.0088)|Myeloproliferative disorder(586;0.0303)|Ovarian(437;0.0388) UCEC - Uterine corpus endometrioid carcinoma (279;0.101)|Colorectal(212;1.33e-05)|COAD - Colon adenocarcinoma(227;0.000235)|BRCA - Breast invasive adenocarcinoma(304;0.000864)|Kidney(185;0.00244)|STAD - Stomach adenocarcinoma(132;0.00644)|KIRC - Kidney renal clear cell carcinoma(229;0.0179)|READ - Rectum adenocarcinoma(331;0.133) GGGGGGTACGGGAGCCACTCG 0.642000 T WWTR1 epitheliod hemangioendothelioma 38 34 0 0 0.00111076 0 0 MUC16 94025 broad.mit.edu 37 19 9069660 9069660 + Missense_Mutation SNP G A A rs74872724 byFrequency TCGA-EE-A3AC-06A-11D-A196-08 TCGA-EE-A3AC-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 883d623b-c427-4444-9ee3-66d18648130f f8f00311-8db5-4187-bcb8-5054d9fbdac3 g.chr19:9069660G>A uc002mkp.3 - 2 17990 c.17786C>T c.(17785-17787)tCc>tTc p.S5929F NM_024690 NP_078966 Q8WXI7 MUC16_HUMAN Homo sapiens mucin 16, cell surface associated (MUC16), mRNA. 5931 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 AGGCACTGGGGAAGAAGGAGA 0.498000 24 15 0 0 0.000566183 0 0 CABP7 164633 broad.mit.edu 37 22 30123667 30123667 + Silent SNP C T T TCGA-EE-A3AC-06A-11D-A196-08 TCGA-EE-A3AC-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 883d623b-c427-4444-9ee3-66d18648130f f8f00311-8db5-4187-bcb8-5054d9fbdac3 g.chr22:30123667C>T uc003agl.3 + 1 196 c.126C>T c.(124-126)ttC>ttT p.F42F NM_182527 NP_872333 Q86V35 CABP7_HUMAN Homo sapiens calcium binding protein 7 (CABP7), mRNA. 42 EF-hand 1. Golgi apparatus|integral to membrane|perinuclear region of cytoplasm|plasma membrane calcium ion binding lung(1)|skin(3) 4 OV - Ovarian serous cystadenocarcinoma(5;0.00442)|Epithelial(10;0.215)|all cancers(5;0.233) GAGAGGCCTTCAAGGTGTTTG 0.607000 46 38 0 0 0.00195071 0 0 ANK2 287 broad.mit.edu 37 4 114208794 114208794 + Missense_Mutation SNP G A A TCGA-EE-A3AC-06A-11D-A196-08 TCGA-EE-A3AC-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 883d623b-c427-4444-9ee3-66d18648130f f8f00311-8db5-4187-bcb8-5054d9fbdac3 g.chr4:114208794G>A uc003ibe.4 + 18 2213 c.2113G>A c.(2113-2115)Gaa>Aaa p.E705K ANK2_uc003ibd.4_Missense_Mutation_p.E684K|ANK2_uc003ibf.4_Missense_Mutation_p.E705K|ANK2_uc003ibc.2_Missense_Mutation_p.E681K|ANK2_uc011cgb.1_Missense_Mutation_p.E720K NM_001148 NP_001139 Q01484 ANK2_HUMAN Homo sapiens ankyrin 2, neuronal (ANK2), transcript variant 1, mRNA. 705 axon guidance|signal transduction apical plasma membrane|basolateral plasma membrane|cytoskeleton|cytosol|sarcomere protein binding NS(1)|biliary_tract(1)|breast(9)|central_nervous_system(10)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(54)|liver(2)|lung(112)|ovary(8)|pancreas(1)|prostate(7)|skin(11)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(10) 248 Ovarian(17;0.0448)|Hepatocellular(203;0.218) OV - Ovarian serous cystadenocarcinoma(123;4.92e-05) TGCAGCCCAGGAAGATAAAGT 0.398000 19 7 0 0 0.000157383 0 0 SALL3 27164 broad.mit.edu 37 18 76754491 76754491 + Missense_Mutation SNP C T T TCGA-EE-A3AC-06A-11D-A196-08 TCGA-EE-A3AC-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 883d623b-c427-4444-9ee3-66d18648130f f8f00311-8db5-4187-bcb8-5054d9fbdac3 g.chr18:76754491C>T uc002lmt.3 + 1 2500 c.2500C>T c.(2500-2502)Ccc>Tcc p.P834S SALL3_uc010dra.3_Missense_Mutation_p.P441S NM_171999 NP_741996 Q9BXA9 SALL3_HUMAN Homo sapiens sal-like 3 (Drosophila) (SALL3), mRNA. 834 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding NS(2)|breast(1)|central_nervous_system(1)|endometrium(5)|kidney(3)|large_intestine(8)|lung(40)|ovary(4)|prostate(5)|skin(2)|stomach(1)|upper_aerodigestive_tract(2) 74 Esophageal squamous(42;0.129)|Melanoma(33;0.16)|Prostate(75;0.167) OV - Ovarian serous cystadenocarcinoma(15;4.69e-06)|BRCA - Breast invasive adenocarcinoma(31;0.0256) GCCCTCCCCGCCCTCGGTCAT 0.652000 20 16 0 0 0.000566183 0 0 DENND1B 163486 broad.mit.edu 37 1 197614842 197614842 + Missense_Mutation SNP C T T TCGA-EE-A3AC-06A-11D-A196-08 TCGA-EE-A3AC-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 883d623b-c427-4444-9ee3-66d18648130f f8f00311-8db5-4187-bcb8-5054d9fbdac3 g.chr1:197614842C>T uc021pgu.1 - 8 877 c.539G>A c.(538-540)gGa>gAa p.G180E DENND1B_uc010ppf.2_Non-coding_Transcript|DENND1B_uc001guf.3_Missense_Mutation_p.G180E|DENND1B_uc001gue.3_Missense_Mutation_p.G150E|DENND1B_uc001gug.4_5'UTR NM_001195215 NP_001182144 Q6P3S1 DEN1B_HUMAN Homo sapiens DENN/MADD domain containing 1B (DENND1B), transcript variant 3, mRNA. 180 DENN. clathrin-coated vesicle|cytosol guanyl-nucleotide exchange factor activity NS(2)|breast(2)|kidney(2)|large_intestine(3)|lung(12)|upper_aerodigestive_tract(1) 22 TGTTGGGAGTCCAGTTACATC 0.279000 19 10 0 0 0.00136819 0 0 OR4C16 219428 broad.mit.edu 37 11 55340152 55340152 + Silent SNP G A A TCGA-EE-A3AC-06A-11D-A196-08 TCGA-EE-A3AC-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 883d623b-c427-4444-9ee3-66d18648130f f8f00311-8db5-4187-bcb8-5054d9fbdac3 g.chr11:55340152G>A uc010rih.2 + 0 549 c.549G>A c.(547-549)ttG>ttA p.L183L NM_001004701 NP_001004701 Q8NGL9 OR4CG_HUMAN Homo sapiens olfactory receptor, family 4, subfamily C, member 16 (OR4C16), mRNA. 183 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(3)|large_intestine(1)|lung(28)|ovary(1)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1) 41 all_epithelial(135;0.0748) AGCCCTTGTTGAAACAAGCCT 0.438000 45 24 0 0 0.00047179 0 0 CYP1A1 1543 broad.mit.edu 37 15 75012991 75012991 + Missense_Mutation SNP C T T TCGA-EE-A3AC-06A-11D-A196-08 TCGA-EE-A3AC-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 883d623b-c427-4444-9ee3-66d18648130f f8f00311-8db5-4187-bcb8-5054d9fbdac3 g.chr15:75012991C>T uc002ayp.4 - 6 1500 c.1378G>A c.(1378-1380)Gag>Aag p.E460K CYP1A1_uc010bjy.3_Missense_Mutation_p.E431K|CYP1A1_uc010bju.3_Missense_Mutation_p.E196K|CYP1A1_uc010bjv.3_Non-coding_Transcript|CYP1A1_uc010bjw.3_Non-coding_Transcript|CYP1A1_uc010bjx.3_Missense_Mutation_p.E196K|CYP1A1_uc002ayq.4_Missense_Mutation_p.E460K NM_000499 NP_000490 P04798 CP1A1_HUMAN Homo sapiens cytochrome P450, family 1, subfamily A, polypeptide 1 (CYP1A1), mRNA. 460 cellular lipid metabolic process|drug metabolic process|xenobiotic metabolic process endoplasmic reticulum membrane|microsome aromatase activity|electron carrier activity|heme binding|oxygen binding|vitamin D 24-hydroxylase activity autonomic_ganglia(1)|breast(2)|endometrium(1)|large_intestine(7)|lung(13)|ovary(3)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 34 Arsenic trioxide(DB01169)|Benzphetamine(DB00865)|Bleomycin(DB00290)|Chlorzoxazone(DB00356)|Dacarbazine(DB00851)|Dactinomycin(DB00970)|Esomeprazole(DB00736)|Estrone(DB00655)|Fluvastatin(DB01095)|Fluvoxamine(DB00176)|Ginseng(DB01404)|Granisetron(DB00889)|Ketoconazole(DB01026)|Menadione(DB00170)|Picrotoxin(DB00466)|Primaquine(DB01087)|Quinidine(DB00908)|Quinine(DB00468)|Thiabendazole(DB00730) GCAATGGTCTCACCGATACAC 0.542000 Endometrial Cancer, Familial Clustering of;ACTH-independent macronodular adrenal hyperplasia 39 39 0 0 0.00195071 0 0 COL4A1 1282 broad.mit.edu 37 13 110835383 110835383 + Silent SNP C T T TCGA-EE-A3AC-06A-11D-A196-08 TCGA-EE-A3AC-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 883d623b-c427-4444-9ee3-66d18648130f f8f00311-8db5-4187-bcb8-5054d9fbdac3 g.chr13:110835383C>T uc001vqw.4 - 27 2174 c.2052G>A c.(2050-2052)gtG>gtA p.V684V NM_001845 NP_001836 P02462 CO4A1_HUMAN Homo sapiens collagen, type IV, alpha 1 (COL4A1), mRNA. 684 Triple-helical region. angiogenesis|axon guidance extracellular matrix structural constituent|platelet-derived growth factor binding p.A683T(1) 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) CTGGCTGGCCCACAGCGCCCT 0.612000 15 10 0 0 0.000442599 0 0 OR10S1 219873 broad.mit.edu 37 11 123847819 123847819 + Missense_Mutation SNP C T T TCGA-EE-A3AC-06A-11D-A196-08 TCGA-EE-A3AC-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 883d623b-c427-4444-9ee3-66d18648130f f8f00311-8db5-4187-bcb8-5054d9fbdac3 g.chr11:123847819C>T uc001pzm.1 - 0 580 c.580G>A c.(580-582)Gac>Aac p.D194N NM_001004474 NP_001004474 Q8NGN2 O10S1_HUMAN Homo sapiens olfactory receptor, family 10, subfamily S, member 1 (OR10S1), mRNA. 194 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity p.D194N(2) endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(16)|ovary(1)|prostate(2)|skin(2)|urinary_tract(1) 36 Breast(109;0.00867)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|all_neural(223;0.22) BRCA - Breast invasive adenocarcinoma(274;4.88e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0399) GGGGGTATGTCGCAGAAGAAG 0.567000 36 21 0 0 0.00121646 0 0 OR5AK2 390181 broad.mit.edu 37 11 56757090 56757090 + Silent SNP G A A TCGA-EE-A3AC-06A-11D-A196-08 TCGA-EE-A3AC-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 883d623b-c427-4444-9ee3-66d18648130f f8f00311-8db5-4187-bcb8-5054d9fbdac3 g.chr11:56757090G>A uc010rjp.2 + 0 702 c.702G>A c.(700-702)agG>agA p.R234R NM_001005323 NP_001005323 Q8NH90 O5AK2_HUMAN Homo sapiens olfactory receptor, family 5, subfamily AK, member 2 (OR5AK2), mRNA. 234 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity breast(3)|endometrium(1)|large_intestine(4)|lung(3)|ovary(3)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2) 21 GTGCAGGAAGGAAAAAATCCT 0.423000 41 24 0 0 0.000375601 0 0 SVIL 6840 broad.mit.edu 37 10 29815923 29815923 + Missense_Mutation SNP G A A TCGA-EE-A3AC-06A-11D-A196-08 TCGA-EE-A3AC-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 883d623b-c427-4444-9ee3-66d18648130f f8f00311-8db5-4187-bcb8-5054d9fbdac3 g.chr10:29815923G>A uc001iut.1 - 12 3062 c.2309C>T c.(2308-2310)cCc>cTc p.P770L SVIL_uc001iuu.1_Intron NM_021738 NP_068506 O95425 SVIL_HUMAN Homo sapiens supervillin (SVIL), transcript variant 2, mRNA. 770 cytoskeleton organization|skeletal muscle tissue development cell junction|costamere|invadopodium|nucleus|podosome actin filament binding breast(1)|central_nervous_system(3)|cervix(1)|endometrium(17)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(24)|lung(35)|ovary(8)|prostate(2)|skin(4)|stomach(7)|upper_aerodigestive_tract(2)|urinary_tract(2) 112 Breast(68;0.103) AGCTACAGTGGGGCTAGGAAG 0.537000 28 14 0 0 0.000308642 0 0 LINGO2 158038 broad.mit.edu 37 9 27949714 27949715 + Missense_Mutation DNP CC TT TT TCGA-EE-A3AC-06A-11D-A196-08 TCGA-EE-A3AC-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 883d623b-c427-4444-9ee3-66d18648130f f8f00311-8db5-4187-bcb8-5054d9fbdac3 g.chr9:27949714_27949715CC>TT uc003zqv.1 - 6 1605_1606 c.955_956GG>AA c.(955-957)ggg>AAg p.G319K LINGO2_uc010mjf.1_Missense_Mutation_p.G319K|LINGO2_uc003zqu.1_Missense_Mutation_p.G319K|LINGO2_uc022bfc.1_Missense_Mutation_p.G319K NM_152570 NP_689783 Q7L985 LIGO2_HUMAN Homo sapiens leucine rich repeat and Ig domain containing 2 (LINGO2), mRNA. 319 integral to membrane autonomic_ganglia(1)|breast(2)|central_nervous_system(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|liver(1)|lung(13)|ovary(2)|prostate(4)|skin(1)|upper_aerodigestive_tract(1) 44 Melanoma(11;0.242) all_neural(11;2.78e-09) UCEC - Uterine corpus endometrioid carcinoma (5;0.0818)|GBM - Glioblastoma multiforme(2;1.31e-34)|all cancers(2;2.37e-25)|Lung(2;7.48e-08)|LUSC - Lung squamous cell carcinoma(38;5.09e-07)|KIRC - Kidney renal clear cell carcinoma(2;0.0465)|Kidney(2;0.0604) GAAGCGGAGCCCTTGGAAGGAG 0.540000 51 21 0 0 6.4e-05 0 0 COL6A3 1293 broad.mit.edu 37 2 238296653 238296653 + Missense_Mutation SNP G A A TCGA-EE-A3AC-06A-11D-A196-08 TCGA-EE-A3AC-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 883d623b-c427-4444-9ee3-66d18648130f f8f00311-8db5-4187-bcb8-5054d9fbdac3 g.chr2:238296653G>A uc002vwl.2 - 3 1169 c.884C>T c.(883-885)tCc>tTc p.S295F COL6A3_uc002vwo.2_Missense_Mutation_p.S89F|COL6A3_uc010znj.1_Intron|COL6A3_uc002vwq.3_Missense_Mutation_p.S89F|COL6A3_uc002vwr.3_Intron|COL6A3_uc010znk.1_Missense_Mutation_p.S295F NM_004369 NP_004360 P12111 CO6A3_HUMAN Homo sapiens collagen, type VI, alpha 3 (COL6A3), transcript variant 1, mRNA. 295 Nonhelical region.|VWFA 2. 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) GGTGTCCAAGGAGAACATGGT 0.547000 24 18 0 0 0.00121646 0 0 HIP1 3092 broad.mit.edu 37 7 75183801 75183801 + Missense_Mutation SNP G A A rs141102143 TCGA-EE-A3AC-06A-11D-A196-08 TCGA-EE-A3AC-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 883d623b-c427-4444-9ee3-66d18648130f f8f00311-8db5-4187-bcb8-5054d9fbdac3 g.chr7:75183801G>A uc003uds.2 - 19 2033 c.1988C>T c.(1987-1989)tCc>tTc p.S663F HIP1_uc011kfz.2_Missense_Mutation_p.S663F NM_005338 NP_005329 O00291 HIP1_HUMAN Homo sapiens huntingtin interacting protein 1 (HIP1), transcript variant 1, mRNA. 663 activation of caspase activity|cell differentiation|clathrin coat assembly|endocytosis|induction of apoptosis|positive regulation of receptor-mediated endocytosis|regulation of transcription, DNA-dependent|transcription, DNA-dependent Golgi apparatus|clathrin coated vesicle membrane|cytoskeleton|membrane fraction|nucleus actin binding|clathrin binding|phosphatidylinositol binding|structural constituent of cytoskeleton breast(3)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|lung(25)|ovary(2)|pancreas(2)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 51 GCTGGAAATGGATGTGACCGT 0.512000 T PDGFRB CMML 26 24 0 0 0.00127121 0 0 KRT36 8689 broad.mit.edu 37 17 39644899 39644899 + Silent SNP C T T TCGA-EE-A3AC-06A-11D-A196-08 TCGA-EE-A3AC-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 883d623b-c427-4444-9ee3-66d18648130f f8f00311-8db5-4187-bcb8-5054d9fbdac3 g.chr17:39644899C>T uc002hwt.3 - 1 537 c.537G>A c.(535-537)cgG>cgA p.R179R NM_003771 NP_003762 O76013 KRT36_HUMAN Homo sapiens keratin 36 (KRT36), mRNA. 179 Coil 1B.|Rod. R -> Q (in dbSNP:rs9675246). intermediate filament protein binding|structural constituent of epidermis breast(2)|cervix(1)|kidney(2)|large_intestine(3)|lung(8)|skin(1) 17 Breast(137;0.000286) CTCACTTGGTCCGGAAGTCGT 0.562000 93 44 0 0 0.000781405 0 0 COL6A3 1293 broad.mit.edu 37 2 238277770 238277770 + Missense_Mutation SNP C T T TCGA-EE-A3AC-06A-11D-A196-08 TCGA-EE-A3AC-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 883d623b-c427-4444-9ee3-66d18648130f f8f00311-8db5-4187-bcb8-5054d9fbdac3 g.chr2:238277770C>T uc002vwl.2 - 9 4621 c.4336G>A c.(4336-4338)Gga>Aga p.G1446R COL6A3_uc002vwo.2_Missense_Mutation_p.G1240R|COL6A3_uc010znj.1_Missense_Mutation_p.G839R NM_004369 NP_004360 P12111 CO6A3_HUMAN Homo sapiens collagen, type VI, alpha 3 (COL6A3), transcript variant 1, mRNA. 1446 Nonhelical region.|VWFA 8. 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) GGCCTAACTCCCTCAGAGCTG 0.468000 29 21 0 0 0.00188189 0 0 IFIT1B 439996 broad.mit.edu 37 10 91144031 91144031 + Silent SNP T C C TCGA-EE-A3AC-06A-11D-A196-08 TCGA-EE-A3AC-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 883d623b-c427-4444-9ee3-66d18648130f f8f00311-8db5-4187-bcb8-5054d9fbdac3 g.chr10:91144031T>C uc001kgh.3 + 1 1041 c.961T>C c.(961-963)Ttg>Ctg p.L321L LIPA_uc001kgb.4_Intron|LIPA_uc001kgc.4_Intron NM_001010987 NP_001010987 Q5T764 IFT1B_HUMAN Homo sapiens interferon-induced protein with tetratricopeptide repeats 1B (IFIT1B), mRNA. 321 binding endometrium(2)|large_intestine(3)|lung(8) 13 TGTGGACAGATTGGTTCAATT 0.428000 44 32 0 0 0.0024448 0 0 CYB5R4 51167 broad.mit.edu 37 6 84573933 84573933 + Nonsense_Mutation SNP C T T TCGA-EE-A3AC-06A-11D-A196-08 TCGA-EE-A3AC-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 883d623b-c427-4444-9ee3-66d18648130f f8f00311-8db5-4187-bcb8-5054d9fbdac3 g.chr6:84573933C>T uc003pkf.3 + 1 247 c.115C>T c.(115-117)Cga>Tga p.R39* NM_016230 NP_057314 Q7L1T6 NB5R4_HUMAN Homo sapiens cytochrome b5 reductase 4 (CYB5R4), mRNA. 39 cell development|detection of oxygen|generation of precursor metabolites and energy|glucose homeostasis|insulin secretion|response to antibiotic|superoxide metabolic process endoplasmic reticulum|perinuclear region of cytoplasm NAD(P)H oxidase activity|cytochrome-b5 reductase activity|heme binding breast(3)|endometrium(2)|kidney(2)|large_intestine(7)|lung(7)|prostate(1)|upper_aerodigestive_tract(1) 23 all_cancers(76;7e-07)|Acute lymphoblastic leukemia(125;2.69e-07)|all_hematologic(105;0.000151)|all_epithelial(107;0.00128) BRCA - Breast invasive adenocarcinoma(397;0.0871) GGATTGGATTCGACTGACCAA 0.328000 15 28 0 0 0.00106085 0 0 NCOR1P1 149934 broad.mit.edu 37 20 26084307 26084307 + Splice_Site SNP C T T TCGA-EE-A3AC-06A-11D-A196-08 TCGA-EE-A3AC-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 883d623b-c427-4444-9ee3-66d18648130f f8f00311-8db5-4187-bcb8-5054d9fbdac3 g.chr20:26084307C>T uc002wvj.4 - 2 164 c.109_splice c.e2-1 p.D37_splice Homo sapiens nuclear receptor corepressor 1 pseudogene 1 (NCOR1P1), non-coding RNA. p.D37N(1) AATGCTGGATCCTTTAGAGAA 0.393000 52 7 0 0 0.00198382 0 0 ELOVL2 54898 broad.mit.edu 37 6 10995337 10995338 + Missense_Mutation DNP CC TT TT TCGA-EE-A3AC-06A-11D-A196-08 TCGA-EE-A3AC-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 883d623b-c427-4444-9ee3-66d18648130f f8f00311-8db5-4187-bcb8-5054d9fbdac3 g.chr6:10995337_10995338CC>TT uc003mzp.4 - 4 568_569 c.407_408GG>AA c.(406-408)cgg>cAA p.R136Q NM_017770 NP_060240 Q9NXB9 ELOV2_HUMAN Homo sapiens ELOVL fatty acid elongase 2 (ELOVL2), mRNA. 136 fatty acid elongation, polyunsaturated fatty acid|long-chain fatty-acyl-CoA biosynthetic process|triglyceride biosynthetic process|very long-chain fatty acid biosynthetic process endoplasmic reticulum membrane|integral to membrane fatty acid elongase activity|protein binding breast(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(5)|stomach(1)|upper_aerodigestive_tract(2) 14 Breast(50;0.0418)|Ovarian(93;0.0919) all_hematologic(90;0.117) Epithelial(50;0.176) TCGTTTTTTTCCGCAAAACGAA 0.376000 61 34 0 0 6.4e-05 0 0 SUN1 23353 broad.mit.edu 37 7 881721 881721 + Silent SNP G A A TCGA-EE-A3AC-06A-11D-A196-08 TCGA-EE-A3AC-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 883d623b-c427-4444-9ee3-66d18648130f f8f00311-8db5-4187-bcb8-5054d9fbdac3 g.chr7:881721G>A uc021zym.1 + 2 425 c.405G>A c.(403-405)ttG>ttA p.L135L SUN1_uc021zyl.1_Silent_p.L135L|SUN1_uc010ksa.1_Silent_p.L156L|SUN1_uc003sje.1_Silent_p.L135L|SUN1_uc011jvq.2_Silent_p.L135L|SUN1_uc003sjf.3_Silent_p.L85L|SUN1_uc003sjg.3_5'Flank NM_001130965 NP_001124437 O94901 SUN1_HUMAN Homo sapiens Sad1 and UNC84 domain containing 1 (SUN1), transcript variant 1, mRNA. 135 LMNA-binding. cytoskeletal anchoring at nuclear membrane|nuclear matrix anchoring at nuclear membrane SUN-KASH complex|integral to membrane|nuclear inner membrane protein binding NS(1)|endometrium(1)|kidney(2)|large_intestine(7)|lung(17)|upper_aerodigestive_tract(1)|urinary_tract(1) 30 CTCCTGTATTGGACGAGTCTT 0.572000 33 20 0 0 0.00152264 0 0 MUC16 94025 broad.mit.edu 37 19 9084257 9084257 + Missense_Mutation SNP G A A TCGA-EE-A3AC-06A-11D-A196-08 TCGA-EE-A3AC-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 883d623b-c427-4444-9ee3-66d18648130f f8f00311-8db5-4187-bcb8-5054d9fbdac3 g.chr19:9084257G>A uc002mkp.3 - 0 7762 c.7558C>T c.(7558-7560)Ctc>Ttc p.L2520F NM_024690 NP_078966 Q8WXI7 MUC16_HUMAN Homo sapiens mucin 16, cell surface associated (MUC16), mRNA. 2520 Ser-rich.|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 CTTGTCTTGAGAAAGCCCATG 0.507000 13 13 0 0 0.000219431 0 0 IFIH1 64135 broad.mit.edu 37 2 163130398 163130398 + Silent SNP G A A rs35677292 TCGA-EE-A3AC-06A-11D-A196-08 TCGA-EE-A3AC-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 883d623b-c427-4444-9ee3-66d18648130f f8f00311-8db5-4187-bcb8-5054d9fbdac3 g.chr2:163130398G>A uc002uce.3 - 11 2583 c.2361C>T c.(2359-2361)atC>atT p.I787I NM_022168 NP_071451 Q9BYX4 IFIH1_HUMAN Homo sapiens interferon induced with helicase C domain 1 (IFIH1), mRNA. 787 Helicase C-terminal. detection of virus|innate immune response|interspecies interaction between organisms|negative regulation of type I interferon production|positive regulation of interferon-alpha production|positive regulation of interferon-beta production|regulation of apoptosis cytosol|nucleus ATP binding|DNA binding|double-stranded RNA binding|helicase activity|protein binding|ribonucleoprotein binding|zinc ion binding NS(1)|breast(2)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(6)|lung(14)|ovary(1)|prostate(2)|skin(3)|urinary_tract(1) 39 CTGTGGTAGCGATAAGCAGAT 0.338000 9 9 0 0 0.000442599 0 0 DCSTAMP 81501 broad.mit.edu 37 8 105367173 105367173 + Silent SNP C T T TCGA-EE-A3AC-06A-11D-A196-08 TCGA-EE-A3AC-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 883d623b-c427-4444-9ee3-66d18648130f f8f00311-8db5-4187-bcb8-5054d9fbdac3 g.chr8:105367173C>T uc003ylx.1 + 2 1147 c.1098C>T c.(1096-1098)atC>atT p.I366I NM_030788 NP_110415 Q9H295 TM7S4_HUMAN Homo sapiens transmembrane 7 superfamily member 4 (TM7SF4), mRNA. 366 osteoclast differentiation cell surface|integral to membrane|plasma membrane CCAACTGTATCCCAAAACCAA 0.348000 30 21 0 0 0.00152264 0 0 UGT2B17 7367 broad.mit.edu 37 4 69416524 69416524 + Missense_Mutation SNP G A A TCGA-EE-A3AC-06A-11D-A196-08 TCGA-EE-A3AC-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 883d623b-c427-4444-9ee3-66d18648130f f8f00311-8db5-4187-bcb8-5054d9fbdac3 g.chr4:69416524G>A uc021xov.1 - 4 1227 c.1184C>T c.(1183-1185)cCc>cTc p.P395L NM_001077 NP_001068 O75795 UDB17_HUMAN Homo sapiens UDP glucuronosyltransferase 2 family, polypeptide B17 (UGT2B17), mRNA. 395 steroid metabolic process endoplasmic reticulum membrane|integral to membrane|microsome glucuronosyltransferase activity central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(7)|lung(14)|ovary(2)|prostate(1) 30 CGCAAACAAGGGAATGCCCAC 0.458000 46 10 0 0 0.000978159 0 0 ELAVL2 1993 broad.mit.edu 37 9 23762229 23762229 + Missense_Mutation SNP C T T TCGA-EE-A3AC-06A-11D-A196-08 TCGA-EE-A3AC-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 883d623b-c427-4444-9ee3-66d18648130f f8f00311-8db5-4187-bcb8-5054d9fbdac3 g.chr9:23762229C>T uc003zpu.3 - 1 279 c.4G>A c.(4-6)Gaa>Aaa p.E2K ELAVL2_uc003zps.3_Missense_Mutation_p.E2K|ELAVL2_uc003zpt.3_Missense_Mutation_p.E2K|ELAVL2_uc003zpv.3_Missense_Mutation_p.E2K|ELAVL2_uc003zpw.3_Missense_Mutation_p.E2K NM_004432 NP_004423 Q12926 ELAV2_HUMAN Homo sapiens ELAV (embryonic lethal, abnormal vision, Drosophila)-like 2 (Hu antigen B) (ELAVL2), transcript variant 1, mRNA. 2 regulation of transcription, DNA-dependent mRNA 3'-UTR binding|nucleotide binding|protein binding breast(1)|central_nervous_system(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|lung(20)|ovary(2)|skin(1)|stomach(1)|urinary_tract(1) 39 GBM - Glioblastoma multiforme(1;2.18e-156)|Lung(42;2.15e-28)|LUSC - Lung squamous cell carcinoma(38;1.02e-19) AGTTGTGTTTCCATGGCAGCA 0.398000 10 25 0 0 0.000720815 0 0 COL4A4 1286 broad.mit.edu 37 2 228004923 228004923 + Missense_Mutation SNP C T T TCGA-EE-A3AC-06A-11D-A196-08 TCGA-EE-A3AC-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 883d623b-c427-4444-9ee3-66d18648130f f8f00311-8db5-4187-bcb8-5054d9fbdac3 g.chr2:228004923C>T uc021vxr.1 - 2 247 c.146G>A c.(145-147)gGa>gAa p.G49E COL4A4_uc021vxs.1_Missense_Mutation_p.G49E NM_000092 NP_000083 P53420 CO4A4_HUMAN Homo sapiens collagen, type IV, alpha 4 (COL4A4), mRNA. 49 7S domain. axon guidance|glomerular basement membrane development basal lamina|collagen type IV extracellular matrix structural constituent|protein binding p.G48A(1) breast(2)|central_nervous_system(3)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(15)|lung(35)|ovary(5)|pancreas(3)|prostate(2)|skin(12)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(3) 98 Renal(207;0.00844)|all_lung(227;0.0187)|Lung NSC(271;0.0879)|all_hematologic(139;0.21)|Esophageal squamous(248;0.242) Epithelial(121;6.7e-11)|all cancers(144;5.39e-08)|Lung(261;0.0132)|LUSC - Lung squamous cell carcinoma(224;0.0181) GCAATCTCTTCCTCCACAAGG 0.413000 41 26 0 0 0.0024448 0 0 KCNQ2 3785 broad.mit.edu 37 20 62038654 62038654 + Silent SNP C T T TCGA-EE-A3AC-06A-11D-A196-08 TCGA-EE-A3AC-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 883d623b-c427-4444-9ee3-66d18648130f f8f00311-8db5-4187-bcb8-5054d9fbdac3 g.chr20:62038654C>T uc002yey.1 - 16 2139 c.1962G>A c.(1960-1962)gaG>gaA p.E654E KCNQ2_uc002yez.1_Silent_p.E623E|KCNQ2_uc002yfa.1_Silent_p.E636E|KCNQ2_uc002yfb.1_Silent_p.E626E NM_172107 NP_742105 O43526 KCNQ2_HUMAN Homo sapiens potassium voltage-gated channel, KQT-like subfamily, member 2 (KCNQ2), transcript variant 1, mRNA. 654 axon guidance|synaptic transmission voltage-gated potassium channel complex voltage-gated potassium channel activity biliary_tract(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(4)|kidney(3)|large_intestine(4)|liver(1)|lung(30)|ovary(2)|prostate(4)|skin(3)|upper_aerodigestive_tract(1) 65 all_cancers(38;1.24e-11) BRCA - Breast invasive adenocarcinoma(10;1.04e-05) Amitriptyline(DB00321) AGGCCTCGGTCTCTGTCGGGG 0.627000 72 18 0 0 0.00152264 0 0 KLK4 9622 broad.mit.edu 37 19 51412575 51412575 + Missense_Mutation SNP C T T TCGA-EE-A3AC-06A-11D-A196-08 TCGA-EE-A3AC-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 883d623b-c427-4444-9ee3-66d18648130f f8f00311-8db5-4187-bcb8-5054d9fbdac3 g.chr19:51412575C>T uc002pua.1 - 1 157 c.157G>A c.(157-159)Gaa>Aaa p.E53K KLK4_uc002pty.1_Missense_Mutation_p.E4K|KLK4_uc002ptz.1_Non-coding_Transcript|KLK4_uc002pub.1_5'UTR|KLK4_uc002puc.1_Non-coding_Transcript|KLK4_uc010eoi.1_5'UTR|KLK4_uc002pud.1_5'Flank NM_004917 NP_004908 Q9Y5K2 KLK4_HUMAN Homo sapiens kallikrein-related peptidase 4 (KLK4), mRNA. 53 Peptidase S1. proteolysis extracellular region metal ion binding|serine-type endopeptidase activity autonomic_ganglia(1)|endometrium(3)|kidney(1)|large_intestine(5)|liver(1)|lung(8) 19 all_neural(266;0.026) OV - Ovarian serous cystadenocarcinoma(262;0.00624)|GBM - Glioblastoma multiforme(134;0.00878) CAGAACAATTCGTTTTCCATG 0.617000 125 84 0 0 0.000781405 0 0 RAB19 401409 broad.mit.edu 37 7 140125885 140125885 + Missense_Mutation SNP C T T TCGA-EE-A3AC-06A-11D-A196-08 TCGA-EE-A3AC-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 883d623b-c427-4444-9ee3-66d18648130f f8f00311-8db5-4187-bcb8-5054d9fbdac3 g.chr7:140125885C>T uc010lni.2 + 3 787 c.589C>T c.(589-591)Ccc>Tcc p.P197S RAB19_uc011krc.1_Missense_Mutation_p.P197S NM_001008749 NP_001008749 A4D1S5 RAB19_HUMAN Homo sapiens RAB19, member RAS oncogene family (RAB19), mRNA. 197 protein transport|small GTPase mediated signal transduction plasma membrane GTP binding breast(3)|large_intestine(2)|lung(3)|upper_aerodigestive_tract(1) 9 Melanoma(164;0.0142) GAACGGCCTCCCCCTGGACTC 0.557000 40 22 0 0 0.000586117 0 0 COL6A3 1293 broad.mit.edu 37 2 238275390 238275390 + Missense_Mutation SNP C T T TCGA-EE-A3AC-06A-11D-A196-08 TCGA-EE-A3AC-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 883d623b-c427-4444-9ee3-66d18648130f f8f00311-8db5-4187-bcb8-5054d9fbdac3 g.chr2:238275390C>T uc002vwl.2 - 10 5725 c.5440G>A c.(5440-5442)Gaa>Aaa p.E1814K COL6A3_uc002vwo.2_Missense_Mutation_p.E1608K|COL6A3_uc010znj.1_Missense_Mutation_p.E1207K NM_004369 NP_004360 P12111 CO6A3_HUMAN Homo sapiens collagen, type VI, alpha 3 (COL6A3), transcript variant 1, mRNA. 1814 Nonhelical region. axon guidance|cell adhesion|muscle organ development collagen type VI|extracellular space serine-type endopeptidase inhibitor activity p.E1814*(2) 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) TGCAAAGTTTCCAAAACTTGC 0.507000 44 33 0 0 0.0024448 0 0 TRMT61B 55006 broad.mit.edu 37 2 29074031 29074031 + Nonsense_Mutation SNP G A A TCGA-EE-A3AC-06A-11D-A196-08 TCGA-EE-A3AC-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 883d623b-c427-4444-9ee3-66d18648130f f8f00311-8db5-4187-bcb8-5054d9fbdac3 g.chr2:29074031G>A uc002rmm.3 - 4 1251 c.1219C>T c.(1219-1221)Caa>Taa p.Q407* NM_017910 NP_060380 Q9BVS5 TR61B_HUMAN Homo sapiens tRNA methyltransferase 61 homolog B (S. cerevisiae) (TRMT61B), mRNA. 407 tRNA (adenine-N1-)-methyltransferase activity endometrium(2)|kidney(1)|large_intestine(2)|lung(8) 13 TCTACTTTTTGAGCTAAAATT 0.383000 45 21 0 0 0.00152264 0 0 AHNAK 79026 broad.mit.edu 37 11 62287858 62287858 + Silent SNP G T T TCGA-EE-A3AC-06A-11D-A196-08 TCGA-EE-A3AC-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 883d623b-c427-4444-9ee3-66d18648130f f8f00311-8db5-4187-bcb8-5054d9fbdac3 g.chr11:62287858G>T uc001ntl.3 - 4 14331 c.14031C>A c.(14029-14031)ccC>ccA p.P4677P AHNAK_uc001ntk.1_Intron NM_001620 NP_001611 Q09666 AHNK_HUMAN Homo sapiens AHNAK nucleoprotein (AHNAK), transcript variant 1, mRNA. 4677 nervous system development nucleus protein binding p.L4676P(1) NS(3)|autonomic_ganglia(1)|breast(10)|central_nervous_system(5)|endometrium(17)|haematopoietic_and_lymphoid_tissue(2)|kidney(33)|large_intestine(40)|liver(1)|lung(108)|ovary(13)|pancreas(4)|prostate(5)|skin(16)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(6) 268 Melanoma(852;0.155) TGTCAGCCTTGGGCAGGTTCA 0.502000 281 9 0.000673444 0.00305906 0.000673444 1 0 ANO1 55107 broad.mit.edu 37 11 69934100 69934100 + Missense_Mutation SNP G A A TCGA-EE-A3AC-06A-11D-A196-08 TCGA-EE-A3AC-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 883d623b-c427-4444-9ee3-66d18648130f f8f00311-8db5-4187-bcb8-5054d9fbdac3 g.chr11:69934100G>A uc001opj.3 + 1 656 c.351G>A c.(349-351)atG>atA p.M117I ANO1_uc001opl.2_Non-coding_Transcript|ANO1_uc001opk.1_Missense_Mutation_p.M89I NM_018043 NP_060513 Q5XXA6 ANO1_HUMAN Homo sapiens anoctamin 1, calcium activated chloride channel (ANO1), transcript variant 1, mRNA. 117 multicellular organismal development chloride channel complex|cytoplasm|plasma membrane intracellular calcium activated chloride channel activity p.P116P(1) central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(3)|lung(12)|ovary(3)|pancreas(1)|upper_aerodigestive_tract(1) 29 AGCCCCCGATGGACTACCACG 0.682000 5 5 0 0 0.00116845 0 0 OR10R2 343406 broad.mit.edu 37 1 158449901 158449901 + Silent SNP A G G TCGA-EE-A3AC-06A-11D-A196-08 TCGA-EE-A3AC-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 883d623b-c427-4444-9ee3-66d18648130f f8f00311-8db5-4187-bcb8-5054d9fbdac3 g.chr1:158449901A>G uc010pik.2 + 0 234 c.234A>G c.(232-234)ccA>ccG p.P78P AK057554_uc001fso.1_Non-coding_Transcript NM_001004472 NP_001004472 Q8NGX6 O10R2_HUMAN Homo sapiens olfactory receptor, family 10, subfamily R, member 2 (OR10R2), mRNA. 78 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity breast(1)|endometrium(1)|kidney(1)|large_intestine(2)|liver(1)|lung(26)|pancreas(3)|prostate(2)|skin(3)|upper_aerodigestive_tract(1) 41 all_hematologic(112;0.0378) TCCACACACCAATGTACTTCT 0.423000 67 56 0 0 0.000781405 0 0 LRP12 29967 broad.mit.edu 37 8 105509290 105509290 + Missense_Mutation SNP G A A TCGA-EE-A3AC-06A-11D-A196-08 TCGA-EE-A3AC-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 883d623b-c427-4444-9ee3-66d18648130f f8f00311-8db5-4187-bcb8-5054d9fbdac3 g.chr8:105509290G>A uc003yma.3 - 4 1617 c.1490C>T c.(1489-1491)gCc>gTc p.A497V LRP12_uc003ymb.3_Missense_Mutation_p.A478V|LRP12_uc003ylz.3_5'Flank NM_013437 NP_038465 Q9Y561 LRP12_HUMAN Homo sapiens low density lipoprotein receptor-related protein 12 (LRP12), transcript variant 1, mRNA. 497 endocytosis|regulation of growth coated pit|integral to plasma membrane low-density lipoprotein receptor activity|protein binding NS(1)|breast(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(10)|lung(18)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1) 48 OV - Ovarian serous cystadenocarcinoma(57;1.21e-06)|STAD - Stomach adenocarcinoma(118;0.229) CCCTATGACGGCAGCAGTGAT 0.448000 39 24 0 0 0.00106085 0 0 SMAD6 4091 broad.mit.edu 37 15 67073700 67073700 + Missense_Mutation SNP G A A TCGA-EE-A3AC-06A-11D-A196-08 TCGA-EE-A3AC-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 883d623b-c427-4444-9ee3-66d18648130f f8f00311-8db5-4187-bcb8-5054d9fbdac3 g.chr15:67073700G>A uc002aqf.3 + 3 2241 c.1318G>A c.(1318-1320)Gac>Aac p.D440N SMAD6_uc010bhx.3_Non-coding_Transcript|SMAD6_uc002aqg.3_Missense_Mutation_p.D179N NM_005585 NP_005576 O43541 SMAD6_HUMAN Homo sapiens SMAD family member 6 (SMAD6), transcript variant 1, mRNA. 440 MH2. BMP signaling pathway|immune response|negative regulation of BMP signaling pathway|negative regulation of SMAD protein complex assembly|negative regulation of apoptosis|negative regulation of caspase activity|negative regulation of pathway-restricted SMAD protein phosphorylation|negative regulation of transforming growth factor beta receptor signaling pathway|positive regulation of S phase of mitotic cell cycle|response to laminar fluid shear stress|transforming growth factor beta receptor signaling pathway|zygotic specification of dorsal/ventral axis cytosol|transcription factor complex I-SMAD binding|R-SMAD binding|co-SMAD binding|sequence-specific DNA binding transcription factor activity|transforming growth factor beta receptor, inhibitory cytoplasmic mediator activity|type I activin receptor binding|type I transforming growth factor beta receptor binding|ubiquitin protein ligase binding lung(1)|skin(1) 2 CAAGGTGTTCGACTTCGAGCG 0.726000 16 10 0 0 0.000673444 0 0 TARSL2 123283 broad.mit.edu 37 15 102201986 102201986 + Silent SNP G A A TCGA-EE-A3AC-06A-11D-A196-08 TCGA-EE-A3AC-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 883d623b-c427-4444-9ee3-66d18648130f f8f00311-8db5-4187-bcb8-5054d9fbdac3 g.chr15:102201986G>A uc002bxm.3 - 15 2056 c.2001C>T c.(1999-2001)atC>atT p.I667I TARSL2_uc002bxl.3_Silent_p.I212I|TARSL2_uc010usi.2_Non-coding_Transcript NM_152334 NP_689547 A2RTX5 SYTC2_HUMAN Homo sapiens threonyl-tRNA synthetase-like 2 (TARSL2), mRNA. 667 threonyl-tRNA aminoacylation cytoplasm ATP binding|threonine-tRNA ligase activity breast(1)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(3)|lung(14)|ovary(2)|skin(1)|urinary_tract(1) 29 Lung NSC(78;0.000991)|all_lung(78;0.00128)|Melanoma(26;0.00505) OV - Ovarian serous cystadenocarcinoma(32;0.000268)|LUSC - Lung squamous cell carcinoma(107;0.187)|Lung(145;0.23) CTCGATGAATGATCACAGGTC 0.323000 32 20 0 0 0.00047179 0 0 LOC729020 729020 broad.mit.edu 37 10 105005966 105005966 + Missense_Mutation SNP G A A TCGA-EE-A3AC-06A-11D-A196-08 TCGA-EE-A3AC-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 883d623b-c427-4444-9ee3-66d18648130f f8f00311-8db5-4187-bcb8-5054d9fbdac3 g.chr10:105005966G>A uc009xxi.2 + 0 323 c.213G>A c.(211-213)atG>atA p.M71I BC040734_uc001kwr.3_Intron NM_001143909 NP_001137381 Q2QD12 Q2QD12_HUMAN Homo sapiens rcRPE (LOC729020), mRNA. 71 carbohydrate metabolic process ribulose-phosphate 3-epimerase activity ACATGCACATGATGGTGTCCA 0.493000 54 46 0 0 0.000589545 0 0 TEKT1 83659 broad.mit.edu 37 17 6716272 6716272 + Nonsense_Mutation SNP G A A TCGA-EE-A3AC-06A-11D-A196-08 TCGA-EE-A3AC-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 883d623b-c427-4444-9ee3-66d18648130f f8f00311-8db5-4187-bcb8-5054d9fbdac3 g.chr17:6716272G>A uc002gdt.3 - 5 840 c.730C>T c.(730-732)Cga>Tga p.R244* TEKT1_uc010vth.2_Nonsense_Mutation_p.R98* NM_053285 NP_444515 Q969V4 TEKT1_HUMAN Homo sapiens tektin 1 (TEKT1), mRNA. 244 microtubule cytoskeleton organization cilium axoneme|flagellar axoneme|microtubule p.R244*(2) NS(1)|central_nervous_system(1)|endometrium(3)|large_intestine(5)|lung(6)|ovary(1)|prostate(1)|skin(1)|stomach(1) 20 Myeloproliferative disorder(207;0.0255) GACAGGATTCGATCCACCAGG 0.537000 15 32 0 0 0.000491102 0 0 DNAH3 55567 broad.mit.edu 37 16 20952783 20952783 + Missense_Mutation SNP G A A TCGA-EE-A3AC-06A-11D-A196-08 TCGA-EE-A3AC-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 883d623b-c427-4444-9ee3-66d18648130f f8f00311-8db5-4187-bcb8-5054d9fbdac3 g.chr16:20952783G>A uc010vbe.2 - 58 11594 c.11594C>T c.(11593-11595)cCc>cTc p.P3865L DNAH3_uc010vbd.2_Missense_Mutation_p.P1300L NM_017539 NP_060009 Q8TD57 DYH3_HUMAN Homo sapiens dynein, axonemal, heavy chain 3 (DNAH3), mRNA. 3865 ciliary or flagellar motility|microtubule-based movement axonemal dynein complex|cilium axoneme|cytoplasm|microtubule ATP binding|microtubule motor activity NS(3)|autonomic_ganglia(1)|breast(12)|central_nervous_system(3)|cervix(2)|endometrium(15)|haematopoietic_and_lymphoid_tissue(4)|kidney(10)|large_intestine(42)|liver(2)|lung(57)|ovary(14)|pancreas(1)|prostate(7)|skin(11)|stomach(5)|upper_aerodigestive_tract(7)|urinary_tract(6) 202 GBM - Glioblastoma multiforme(48;0.207) ATAGACCACGGGGTACAACTT 0.483000 105 104 0 0 0.000781405 0 0 CCDC80 151887 broad.mit.edu 37 3 112358629 112358629 + Missense_Mutation SNP A T T TCGA-EE-A3AC-06A-11D-A196-08 TCGA-EE-A3AC-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 883d623b-c427-4444-9ee3-66d18648130f f8f00311-8db5-4187-bcb8-5054d9fbdac3 g.chr3:112358629A>T uc003dzf.3 - 1 342 c.124T>A c.(124-126)Tct>Act p.S42T CCDC80_uc011bhv.2_Missense_Mutation_p.S42T|CCDC80_uc003dzg.3_Missense_Mutation_p.S42T|CCDC80_uc003dzh.1_Missense_Mutation_p.S42T NM_199512 NP_955806 Q76M96 CCD80_HUMAN Homo sapiens coiled-coil domain containing 80 (CCDC80), transcript variant 2, mRNA. 42 breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(13)|liver(1)|lung(21)|ovary(3)|pancreas(2)|prostate(4) 51 CTGTCCGGAGAAACCAAAGGC 0.557000 40 23 0 0 0.00229938 0 0 PPIP5K1 9677 broad.mit.edu 37 15 43873490 43873490 + Nonsense_Mutation SNP G A A TCGA-EE-A3AC-06A-11D-A196-08 TCGA-EE-A3AC-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 883d623b-c427-4444-9ee3-66d18648130f f8f00311-8db5-4187-bcb8-5054d9fbdac3 g.chr15:43873490G>A uc001zrw.3 - 8 1078 c.874C>T c.(874-876)Cga>Tga p.R292* PPIP5K1_uc021sjw.1_Nonsense_Mutation_p.R292*|PPIP5K1_uc001zrx.2_Nonsense_Mutation_p.R292*|PPIP5K1_uc001zry.4_Nonsense_Mutation_p.R292*|PPIP5K1_uc001zrz.1_Nonsense_Mutation_p.R292*|PPIP5K1_uc021sjy.1_Nonsense_Mutation_p.R292*|PPIP5K1_uc021sjz.1_Nonsense_Mutation_p.R292*|PPIP5K1_uc010udr.2_Nonsense_Mutation_p.R292* NM_001130858 NP_001124330 Q6PFW1 VIP1_HUMAN Homo sapiens diphosphoinositol pentakisphosphate kinase 1 (PPIP5K1), transcript variant 5, mRNA. 292 inositol metabolic process cytosol ATP binding|acid phosphatase activity|diphosphoinositol-pentakisphosphate kinase activity|inositol 1,3,4,5,6-pentakisphosphate kinase activity|inositol hexakisphosphate 5-kinase activity p.R292*(1) large_intestine(1) 1 ACTGGATATCGAATCTCTTTC 0.512000 87 66 0 0 0.000781405 0 0 SORL1 6653 broad.mit.edu 37 11 121367676 121367677 + Missense_Mutation DNP CC TT TT TCGA-EE-A3AC-06A-11D-A196-08 TCGA-EE-A3AC-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 883d623b-c427-4444-9ee3-66d18648130f f8f00311-8db5-4187-bcb8-5054d9fbdac3 g.chr11:121367676_121367677CC>TT uc001pxx.3 + 5 986_987 c.857_858CC>TT c.(856-858)tcc>tTT p.S286F NM_003105 NP_003096 Q92673 SORL_HUMAN Homo sapiens sortilin-related receptor, L(DLR class) A repeats containing (SORL1), mRNA. 286 cholesterol metabolic process|lipid transport|receptor-mediated endocytosis integral to plasma membrane|low-density lipoprotein particle low-density lipoprotein particle binding|transmembrane receptor activity NS(1)|breast(5)|central_nervous_system(1)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(14)|liver(2)|lung(34)|ovary(5)|pancreas(1)|skin(12)|stomach(2)|upper_aerodigestive_tract(2) 91 Breast(109;0.00119)|Medulloblastoma(222;0.0429)|all_neural(223;0.113) BRCA - Breast invasive adenocarcinoma(274;3.34e-05)|OV - Ovarian serous cystadenocarcinoma(223;0.108) TTCTTCCAGTCCCGGGAAAACC 0.441000 31 23 0 0 6.4e-05 0 0 ABCA4 24 broad.mit.edu 37 1 94574255 94574255 + Missense_Mutation SNP C T T TCGA-EE-A3AC-06A-11D-A196-08 TCGA-EE-A3AC-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 883d623b-c427-4444-9ee3-66d18648130f f8f00311-8db5-4187-bcb8-5054d9fbdac3 g.chr1:94574255C>T uc001dqh.3 - 3 424 c.320G>A c.(319-321)cGa>cAa p.R107Q ABCA4_uc010otn.1_Missense_Mutation_p.R107Q NM_000350 NP_000341 P78363 ABCA4_HUMAN Homo sapiens ATP-binding cassette, sub-family A (ABC1), member 4 (ABCA4), mRNA. 107 phototransduction, visible light|visual perception integral to plasma membrane|membrane fraction ATP binding|ATPase activity, coupled to transmembrane movement of substances p.R107Q(2) NS(2)|breast(6)|central_nervous_system(5)|endometrium(9)|haematopoietic_and_lymphoid_tissue(5)|kidney(10)|large_intestine(25)|lung(57)|ovary(4)|pancreas(1)|prostate(4)|skin(10)|stomach(4)|upper_aerodigestive_tract(3)|urinary_tract(2) 147 all_lung(203;0.000757)|Lung NSC(277;0.00335) all cancers(265;0.00432)|GBM - Glioblastoma multiforme(16;0.00715)|Epithelial(280;0.171) TTGAAAATCTCGATATACCCT 0.393000 35 22 0 0 0.000720815 0 0 CCDC84 338657 broad.mit.edu 37 11 118881945 118881946 + Missense_Mutation DNP CC TT TT TCGA-EE-A3AC-06A-11D-A196-08 TCGA-EE-A3AC-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 883d623b-c427-4444-9ee3-66d18648130f f8f00311-8db5-4187-bcb8-5054d9fbdac3 g.chr11:118881945_118881946CC>TT uc001pul.3 + 4 521_522 c.465_466CC>TT c.(463-468)atccgt>atTTgt p.R156C CCDC84_uc010ryk.2_Non-coding_Transcript|CCDC84_uc010ryl.2_Non-coding_Transcript|CCDC84_uc010rym.2_Non-coding_Transcript NM_198489 NP_940891 Q86UT8 CCD84_HUMAN Homo sapiens coiled-coil domain containing 84 (CCDC84), mRNA. 156 breast(1)|kidney(1)|large_intestine(1)|liver(1)|ovary(1) 5 all_hematologic(175;0.0839) Medulloblastoma(222;0.0523)|all_neural(223;0.224)|all_hematologic(192;0.243) BRCA - Breast invasive adenocarcinoma(274;7.72e-05) CAGCTCAGATCCGTGAGGTGGA 0.564000 30 8 0 0 6.4e-05 0 0 LILRP2 79166 broad.mit.edu 37 19 55221525 55221525 + RNA SNP C T T TCGA-EE-A3AC-06A-11D-A196-08 TCGA-EE-A3AC-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 883d623b-c427-4444-9ee3-66d18648130f f8f00311-8db5-4187-bcb8-5054d9fbdac3 g.chr19:55221525C>T uc002qgs.1 + 0 c.1925C>T LILRP2_uc002qgt.1_Non-coding_Transcript Homo sapiens leukocyte immunoglobulin-like receptor pseudogene 2 (LILRP2), non-coding RNA. GCCAACTTCACCCTGGGCCCT 0.647000 12 11 0 0 0.00136819 0 0 PIGG 54872 broad.mit.edu 37 4 517605 517605 + Missense_Mutation SNP C T T TCGA-EE-A3AC-06A-11D-A196-08 TCGA-EE-A3AC-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 883d623b-c427-4444-9ee3-66d18648130f f8f00311-8db5-4187-bcb8-5054d9fbdac3 g.chr4:517605C>T uc003gak.4 + 8 2108 c.1972C>T c.(1972-1974)Ccg>Tcg p.P658S PIGG_uc003gaj.4_Missense_Mutation_p.P650S|PIGG_uc011bux.2_Non-coding_Transcript|PIGG_uc010ibf.3_Missense_Mutation_p.P525S|PIGG_uc003gal.4_Missense_Mutation_p.P569S NM_001127178 NP_001120650 Q5H8A4 PIGG_HUMAN Homo sapiens phosphatidylinositol glycan anchor biosynthesis, class G (PIGG), transcript variant 1, mRNA. 658 C-terminal protein lipidation|preassembly of GPI anchor in ER membrane endoplasmic reticulum membrane|integral to membrane CP2 mannose-ethanolamine phosphotransferase activity breast(1)|central_nervous_system(2)|endometrium(2)|kidney(3)|large_intestine(5)|lung(16)|ovary(3)|prostate(1)|skin(5)|upper_aerodigestive_tract(1) 39 GCTGGCCAGTCCGTGGCTAAT 0.652000 6 7 0 0 0.00198382 0 0 KIAA1217 56243 broad.mit.edu 37 10 24762301 24762301 + Missense_Mutation SNP C T T TCGA-EE-A3AC-06A-11D-A196-08 TCGA-EE-A3AC-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 883d623b-c427-4444-9ee3-66d18648130f f8f00311-8db5-4187-bcb8-5054d9fbdac3 g.chr10:24762301C>T uc001iru.4 + 5 1394 c.991C>T c.(991-993)Cct>Tct p.P331S KIAA1217_uc001irs.3_Missense_Mutation_p.P251S|KIAA1217_uc001irt.4_Missense_Mutation_p.P331S|KIAA1217_uc010qcy.2_Missense_Mutation_p.P331S|KIAA1217_uc010qcz.2_Missense_Mutation_p.P331S|KIAA1217_uc001irv.1_Missense_Mutation_p.P181S|KIAA1217_uc010qda.1_Non-coding_Transcript|KIAA1217_uc001irw.3_Missense_Mutation_p.P49S|KIAA1217_uc001irz.3_Missense_Mutation_p.P49S|KIAA1217_uc001irx.3_Missense_Mutation_p.P49S|KIAA1217_uc001iry.3_Missense_Mutation_p.P49S NM_019590 NP_062536 Q5T5P2 SKT_HUMAN Homo sapiens KIAA1217 (KIAA1217), transcript variant 1, mRNA. 331 Pro-rich. embryonic skeletal system development cytoplasm breast(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(4)|kidney(3)|large_intestine(19)|lung(19)|ovary(5)|prostate(3)|skin(3)|urinary_tract(1) 70 GTCCAGAATTCCTTATGGGGG 0.612000 32 14 0 0 0.00185496 0 0 C4orf36 132989 broad.mit.edu 37 4 87809342 87809342 + Missense_Mutation SNP G A A TCGA-EE-A3AC-06A-11D-A196-08 TCGA-EE-A3AC-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 883d623b-c427-4444-9ee3-66d18648130f f8f00311-8db5-4187-bcb8-5054d9fbdac3 g.chr4:87809342G>A uc003hqe.4 - 2 465 c.152C>T c.(151-153)tCa>tTa p.S51L NM_144645 NP_653246 Q96KX1 CD036_HUMAN Homo sapiens chromosome 4 open reading frame 36 (C4orf36), mRNA. 51 breast(1)|kidney(1)|lung(1)|prostate(1) 4 Hepatocellular(203;0.114)|all_hematologic(202;0.21)|Acute lymphoblastic leukemia(40;0.242) OV - Ovarian serous cystadenocarcinoma(123;0.00141) ACCACCAAATGAAATTTCTTC 0.408000 49 29 0 0 0.00127121 0 0 SRGAP3 9901 broad.mit.edu 37 3 9027492 9027492 + Missense_Mutation SNP G A A TCGA-EE-A3AC-06A-11D-A196-08 TCGA-EE-A3AC-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 883d623b-c427-4444-9ee3-66d18648130f f8f00311-8db5-4187-bcb8-5054d9fbdac3 g.chr3:9027492G>A uc003brf.1 - 21 3687 c.3011C>T c.(3010-3012)cCc>cTc p.P1004L SRGAP3_uc003brg.1_Missense_Mutation_p.P980L NM_014850 NP_055665 O43295 SRGP2_HUMAN Homo sapiens SLIT-ROBO Rho GTPase activating protein 3 (SRGAP3), transcript variant 1, mRNA. 1004 regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction cytosol GTPase activator activity|protein binding SRGAP3/RAF1(6) breast(1)|endometrium(2)|kidney(21)|large_intestine(7)|lung(13)|prostate(3)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1) 54 OV - Ovarian serous cystadenocarcinoma(96;0.0563) CGAGCTGACGGGGCCTGGCGG 0.667000 T RAF1 pilocytic astrocytoma 34 26 0 0 0.000720815 0 0 C18orf26 284254 broad.mit.edu 37 18 52262289 52262289 + Silent SNP C T T TCGA-EE-A3AC-06A-11D-A196-08 TCGA-EE-A3AC-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 883d623b-c427-4444-9ee3-66d18648130f f8f00311-8db5-4187-bcb8-5054d9fbdac3 g.chr18:52262289C>T uc002lfq.1 + 1 301 c.255C>T c.(253-255)atC>atT p.I85I NM_173629 NP_775900 Q8N1N2 CR026_HUMAN Homo sapiens chromosome 18 open reading frame 26 (C18orf26), mRNA. 85 integral to membrane endometrium(4)|large_intestine(2)|lung(2)|skin(2)|upper_aerodigestive_tract(1) 11 Colorectal(16;0.0193)|READ - Rectum adenocarcinoma(59;0.178) ACCCAGGAATCCTTGCACATT 0.453000 30 12 0 0 0.00185496 0 0 SLC22A3 6581 broad.mit.edu 37 6 160868816 160868816 + Missense_Mutation SNP C T T TCGA-EE-A3AC-06A-11D-A196-08 TCGA-EE-A3AC-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 883d623b-c427-4444-9ee3-66d18648130f f8f00311-8db5-4187-bcb8-5054d9fbdac3 g.chr6:160868816C>T uc003qti.3 + 9 1603 c.1576C>T c.(1576-1578)Cca>Tca p.P526S SLC22A3_uc011efx.2_Non-coding_Transcript NM_021977 NP_068812 O75751 S22A3_HUMAN Homo sapiens solute carrier family 22 (extraneuronal monoamine transporter), member 3 (SLC22A3), mRNA. 526 integral to plasma membrane|membrane fraction protein binding|quaternary ammonium group transmembrane transporter activity NS(1)|autonomic_ganglia(1)|breast(2)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(4)|lung(5)|ovary(1)|prostate(2)|skin(4)|upper_aerodigestive_tract(1) 27 Breast(66;0.00028)|Ovarian(120;0.0308)|Prostate(117;0.218) OV - Ovarian serous cystadenocarcinoma(65;9.47e-17)|BRCA - Breast invasive adenocarcinoma(81;9.75e-06) TATTGCCTTGCCAGAGACAGT 0.448000 19 31 0 0 0.00148497 0 0 PLXNB3 5365 broad.mit.edu 37 X 153033717 153033717 + Missense_Mutation SNP C T T TCGA-EE-A3AC-06A-11D-A196-08 TCGA-EE-A3AC-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 883d623b-c427-4444-9ee3-66d18648130f f8f00311-8db5-4187-bcb8-5054d9fbdac3 g.chrX:153033717C>T uc010nuk.2 + 4 1440 c.1169C>T c.(1168-1170)tCg>tTg p.S390L PLXNB3_uc011mzb.1_Intron|PLXNB3_uc011mzc.2_Missense_Mutation_p.S49L|PLXNB3_uc004fii.2_Missense_Mutation_p.S367L|PLXNB3_uc011mzd.1_Missense_Mutation_p.S6L NM_001163257 NP_001156729 Q9ULL4 PLXB3_HUMAN Homo sapiens plexin B3 (PLXNB3), transcript variant 2, mRNA. 367 Sema. axon guidance integral to membrane|intracellular|plasma membrane protein binding|receptor activity central_nervous_system(1)|endometrium(7)|large_intestine(2)|lung(15)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2) 32 all_hematologic(71;4.25e-06)|all_lung(58;3.83e-05)|Lung NSC(58;5.54e-05)|Acute lymphoblastic leukemia(192;6.56e-05) TCCCCCGAGTCGTACCCCTGT 0.687000 5 19 0 0 0.000375601 0 0 TCRBV3S1 0 broad.mit.edu 37 7 142428907 142428907 + Missense_Mutation SNP G T T TCGA-EE-A3AC-06A-11D-A196-08 TCGA-EE-A3AC-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 883d623b-c427-4444-9ee3-66d18648130f f8f00311-8db5-4187-bcb8-5054d9fbdac3 g.chr7:142428907G>T uc011ksk.1 + 1 284 c.267G>T c.(265-267)aaG>aaT p.K89N TRBV5-1_uc011krr.1_Intron|TCRBV2S1_uc003vzp.2_Intron|TCRBV3S1_uc011ksh.2_Intron|TCRBV3S1_uc003vzw.2_Intron|TCRBV3S1_uc011ksi.2_Intron|TCRBV3S1_uc010loj.2_Intron|TCRBV3S1_uc003wag.2_Missense_Mutation_p.K44N SubName: Full=V_segment translation product; Flags: Fragment; CTAGAGAGAAGAAGGAGCGCT 0.498000 8 9 2.17888e-05 9.95411e-05 0.000442599 1 0 FGF11 2256 broad.mit.edu 37 17 7345189 7345189 + Silent SNP C T T TCGA-EE-A3AC-06A-11D-A196-08 TCGA-EE-A3AC-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 883d623b-c427-4444-9ee3-66d18648130f f8f00311-8db5-4187-bcb8-5054d9fbdac3 g.chr17:7345189C>T uc002ggz.3 + 2 650 c.399C>T c.(397-399)ctC>ctT p.L133L SPEM1_uc010vtw.1_3'UTR|FGF11_uc010cmh.1_Non-coding_Transcript|FGF11_uc010cmi.3_Silent_p.L9L|FGF11_uc010vtx.2_Silent_p.L74L NM_004112 NP_004103 Q92914 FGF11_HUMAN Homo sapiens fibroblast growth factor 11 (FGF11), mRNA. 133 cell-cell signaling|nervous system development|signal transduction growth factor activity central_nervous_system(1)|large_intestine(3)|ovary(1)|prostate(1) 6 Prostate(122;0.157) AGGGACTGCTCTACAGTTCGG 0.557000 8 12 0 0 0.00185496 0 0 RC3H1 149041 broad.mit.edu 37 1 173949997 173949997 + Missense_Mutation SNP G A A TCGA-EE-A3AC-06A-11D-A196-08 TCGA-EE-A3AC-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 883d623b-c427-4444-9ee3-66d18648130f f8f00311-8db5-4187-bcb8-5054d9fbdac3 g.chr1:173949997G>A uc010pmt.2 - 4 1006 c.919C>T c.(919-921)Ctt>Ttt p.L307F RC3H1_uc001gju.4_Missense_Mutation_p.L307F|RC3H1_uc010pms.2_Missense_Mutation_p.L307F|RC3H1_uc001gjv.3_Missense_Mutation_p.L307F NM_172071 NP_742068 Q5TC82 RC3H1_HUMAN Homo sapiens ring finger and CCCH-type domains 1 (RC3H1), mRNA. 307 cytoplasmic mRNA processing body assembly|negative regulation of B cell proliferation|negative regulation of T-helper cell differentiation|negative regulation of activated T cell proliferation|negative regulation of germinal center formation|nuclear-transcribed mRNA catabolic process|regulation of T cell receptor signaling pathway|regulation of mRNA stability cytoplasmic mRNA processing body|stress granule mRNA 3'-UTR binding|ubiquitin-protein ligase activity|zinc ion binding NS(1)|breast(1)|central_nervous_system(1)|endometrium(5)|kidney(2)|large_intestine(7)|lung(20)|ovary(2)|pancreas(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(4)|urinary_tract(1) 50 TCTCCATAAAGCAAAGAGGAC 0.443000 44 21 0 0 0.000586117 0 0 SLC38A3 10991 broad.mit.edu 37 3 50254688 50254688 + Silent SNP G A A TCGA-EE-A3AC-06A-11D-A196-08 TCGA-EE-A3AC-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 883d623b-c427-4444-9ee3-66d18648130f f8f00311-8db5-4187-bcb8-5054d9fbdac3 g.chr3:50254688G>A uc003cyn.4 + 7 705 c.564G>A c.(562-564)ggG>ggA p.G188G SLC38A3_uc011bdl.2_Silent_p.G164G|SLC38A3_uc011bdm.2_Silent_p.G120G NM_006841 NP_006832 Q99624 S38A3_HUMAN Homo sapiens solute carrier family 38, member 3 (SLC38A3), mRNA. 189 cellular nitrogen compound metabolic process|sodium ion transport integral to plasma membrane L-alanine transmembrane transporter activity|L-asparagine transmembrane transporter activity|L-glutamine transmembrane transporter activity|L-histidine transmembrane transporter activity|antiporter activity|symporter activity breast(1)|cervix(1)|endometrium(1)|lung(3) 6 BRCA - Breast invasive adenocarcinoma(193;0.000275)|KIRC - Kidney renal clear cell carcinoma(197;0.00548)|Kidney(197;0.00615) L-Asparagine(DB00174)|L-Glutamine(DB00130)|L-Histidine(DB00117) ACATGAACGGGAACTACCTGG 0.587000 10 10 0 0 0.000978159 0 0 THSD7B 80731 broad.mit.edu 37 2 137872713 137872713 + Missense_Mutation SNP G A A TCGA-EE-A3AC-06A-11D-A196-08 TCGA-EE-A3AC-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 883d623b-c427-4444-9ee3-66d18648130f f8f00311-8db5-4187-bcb8-5054d9fbdac3 g.chr2:137872713G>A uc002tva.1 + 3 1126 c.1126G>A c.(1126-1128)Gaa>Aaa p.E376K THSD7B_uc010zbj.1_Non-coding_Transcript|THSD7B_uc002tvb.3_Missense_Mutation_p.E266K NM_001080427 NP_001073896 Homo sapiens thrombospondin, type I, domain containing 7B (THSD7B), mRNA. NS(3)|breast(3)|central_nervous_system(2)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(14)|lung(57)|ovary(4)|pancreas(3)|prostate(11)|skin(4)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(3) 134 BRCA - Breast invasive adenocarcinoma(221;0.19) GAGAACTTCTGAATGGAAAGA 0.468000 23 13 0 0 0.000308642 0 0 PCDH20 64881 broad.mit.edu 37 13 61987197 61987197 + Silent SNP C T T TCGA-EE-A3AC-06A-11D-A196-08 TCGA-EE-A3AC-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 883d623b-c427-4444-9ee3-66d18648130f f8f00311-8db5-4187-bcb8-5054d9fbdac3 g.chr13:61987197C>T uc001vid.4 - 1 1399 c.1035G>A c.(1033-1035)gtG>gtA p.V345V PCDH20_uc010thj.2_Silent_p.V345V NM_022843 NP_073754 Q8N6Y1 PCD20_HUMAN Homo sapiens protocadherin 20 (PCDH20), mRNA. 318 Cadherin 3. homophilic cell adhesion integral to membrane|plasma membrane calcium ion binding breast(3)|central_nervous_system(2)|endometrium(3)|kidney(4)|large_intestine(14)|liver(1)|lung(23)|ovary(5)|skin(1)|stomach(1)|upper_aerodigestive_tract(1) 58 Breast(118;0.195)|Prostate(109;0.229) GBM - Glioblastoma multiforme(99;0.000118) AGTCTTTATCCACAGCCTGGA 0.428000 58 37 0 0 0.00170553 0 0 ZNF621 285268 broad.mit.edu 37 3 40574105 40574105 + Nonsense_Mutation SNP C T T TCGA-EE-A3AC-06A-11D-A196-08 TCGA-EE-A3AC-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 883d623b-c427-4444-9ee3-66d18648130f f8f00311-8db5-4187-bcb8-5054d9fbdac3 g.chr3:40574105C>T uc003ckm.2 + 4 1060 c.844C>T c.(844-846)Cag>Tag p.Q282* ZNF621_uc003ckn.2_Nonsense_Mutation_p.Q282*|ZNF621_uc003cko.2_Nonsense_Mutation_p.Q247*|ZNF621_uc011aze.1_Nonsense_Mutation_p.Q274* NM_001098414 NP_940886 Q6ZSS3 ZN621_HUMAN Homo sapiens zinc finger protein 621 (ZNF621), transcript variant 2, mRNA. 282 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding endometrium(1)|kidney(2)|large_intestine(6)|lung(8)|ovary(1)|prostate(1)|upper_aerodigestive_tract(2) 21 KIRC - Kidney renal clear cell carcinoma(284;0.0515)|Kidney(284;0.0648) TATTGTCCATCAGAGAATTCA 0.433000 32 14 0 0 0.00185496 0 0 ENAH 55740 broad.mit.edu 37 1 225702311 225702311 + Missense_Mutation SNP C T T TCGA-EE-A3AC-06A-11D-A196-08 TCGA-EE-A3AC-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 883d623b-c427-4444-9ee3-66d18648130f f8f00311-8db5-4187-bcb8-5054d9fbdac3 g.chr1:225702311C>T uc001hpc.1 - 6 1658 c.1205G>A c.(1204-1206)aGg>aAg p.R402K ENAH_uc021pju.1_Missense_Mutation_p.R352K|ENAH_uc001hpd.1_Missense_Mutation_p.R402K|ENAH_uc001hpb.1_Missense_Mutation_p.R21K NM_001008493 NP_001008493 Q8N8S7 ENAH_HUMAN Homo sapiens enabled homolog (Drosophila) (ENAH), transcript variant 1, mRNA. 402 EVH2 block A.|EVH2. T cell receptor signaling pathway|axon guidance|intracellular transport cytosol|filopodium|focal adhesion|lamellipodium|synapse SH3 domain binding|WW domain binding|actin binding p.R402R(1) NS(1)|breast(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(8)|ovary(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1) 23 Breast(184;0.206) GBM - Glioblastoma multiforme(131;0.19) TGACACTTTCCTAAGTTTTGC 0.373000 62 23 0 0 0.000375601 0 0 MUC2 4583 broad.mit.edu 37 11 1096475 1096475 + Missense_Mutation SNP C T T TCGA-EE-A3AC-06A-11D-A196-08 TCGA-EE-A3AC-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 883d623b-c427-4444-9ee3-66d18648130f f8f00311-8db5-4187-bcb8-5054d9fbdac3 g.chr11:1096475C>T uc001lsx.1 + 35 6515 c.6488C>T c.(6487-6489)cCc>cTc p.P2163L NM_002457 NP_002448 Q02817 MUC2_HUMAN Homo sapiens mucin 2, oligomeric mucus/gel-forming (MUC2), mRNA. 4529 inner mucus layer|outer mucus layer protein binding NS(3)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(26)|haematopoietic_and_lymphoid_tissue(4)|kidney(11)|large_intestine(5)|lung(22)|ovary(2)|prostate(16)|skin(5)|stomach(1)|upper_aerodigestive_tract(2) 102 all_cancers(49;1.08e-07)|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;0.191) BRCA - Breast invasive adenocarcinoma(625;0.000207)|Lung(200;0.0576)|LUSC - Lung squamous cell carcinoma(625;0.0703) Pranlukast(DB01411) CACTGCGATCCCAACGACAAG 0.577000 41 26 0 0 0.00127121 0 0 APOBR 55911 broad.mit.edu 37 16 28508931 28508931 + Missense_Mutation SNP C T T TCGA-EE-A3AC-06A-11D-A196-08 TCGA-EE-A3AC-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 883d623b-c427-4444-9ee3-66d18648130f f8f00311-8db5-4187-bcb8-5054d9fbdac3 g.chr16:28508931C>T uc002dqb.2 + 1 2602 c.2569C>T c.(2569-2571)Ccc>Tcc p.P857S NPIPL1_uc010vct.2_Intron|APOBR_uc010byg.2_Missense_Mutation_p.P386S NM_018690 NP_061160 Q0VD83 APOBR_HUMAN Homo sapiens apolipoprotein B receptor (APOBR), mRNA. 848 Glu-rich. cholesterol metabolic process|lipid transport chylomicron|low-density lipoprotein particle|plasma membrane|very-low-density lipoprotein particle breast(1)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(11)|prostate(1)|skin(2)|stomach(1) 29 TGGGCTGGATCCCGCGGGCTC 0.637000 4 9 0 0 0.000442599 0 0 C10orf88 80007 broad.mit.edu 37 10 124711494 124711494 + Silent SNP G A A TCGA-EE-A3AC-06A-11D-A196-08 TCGA-EE-A3AC-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 883d623b-c427-4444-9ee3-66d18648130f f8f00311-8db5-4187-bcb8-5054d9fbdac3 g.chr10:124711494G>A uc001lgw.2 - 2 642 c.417C>T c.(415-417)tcC>tcT p.S139S C10orf88_uc001lgx.2_Silent_p.S41S NM_024942 NP_079218 Q9H8K7 CJ088_HUMAN Homo sapiens chromosome 10 open reading frame 88 (C10orf88), mRNA. 139 breast(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(11)|prostate(1) 18 all_neural(114;0.0765)|Lung NSC(174;0.163)|all_lung(145;0.205) Colorectal(40;0.0686)|COAD - Colon adenocarcinoma(40;0.0735) CATGTGTGGAGGACTCCAATT 0.249000 28 16 0 0 0.00074312 0 0 GRID2 2895 broad.mit.edu 37 4 94547532 94547532 + Missense_Mutation SNP G A A TCGA-EE-A3AC-06A-11D-A196-08 TCGA-EE-A3AC-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 883d623b-c427-4444-9ee3-66d18648130f f8f00311-8db5-4187-bcb8-5054d9fbdac3 g.chr4:94547532G>A uc011cdt.2 + 13 2564 c.2306G>A c.(2305-2307)gGa>gAa p.G769E GRID2_uc011cdu.2_Missense_Mutation_p.G674E NM_001510 NP_001501 O43424 GRID2_HUMAN Homo sapiens glutamate receptor, ionotropic, delta 2 (GRID2), mRNA. 769 glutamate signaling pathway cell junction|integral to plasma membrane|outer membrane-bounded periplasmic space|postsynaptic membrane extracellular-glutamate-gated ion channel activity|ionotropic glutamate receptor activity p.G769G(1) NS(2)|breast(2)|central_nervous_system(1)|endometrium(6)|kidney(4)|large_intestine(18)|lung(45)|ovary(3)|prostate(6)|skin(9)|upper_aerodigestive_tract(3)|urinary_tract(1) 100 Hepatocellular(203;0.114)|all_hematologic(202;0.177) OV - Ovarian serous cystadenocarcinoma(123;3.22e-06)|LUSC - Lung squamous cell carcinoma(81;0.185)|Lung(65;0.191) L-Glutamic Acid(DB00142) GCTGATCGGGGATATGGAATT 0.388000 57 39 0 0 0.00222228 0 0 COPA 1314 broad.mit.edu 37 1 160265560 160265560 + Silent SNP G A A TCGA-EE-A3AC-06A-11D-A196-08 TCGA-EE-A3AC-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 883d623b-c427-4444-9ee3-66d18648130f f8f00311-8db5-4187-bcb8-5054d9fbdac3 g.chr1:160265560G>A uc001fvv.4 - 22 2863 c.2469C>T c.(2467-2469)tcC>tcT p.S823S COPA_uc009wti.3_Silent_p.S814S NM_001098398 NP_001091868 P53621 COPA_HUMAN Homo sapiens coatomer protein complex, subunit alpha (COPA), transcript variant 1, mRNA. 814 COPI coating of Golgi vesicle|intracellular protein transport|pancreatic juice secretion|retrograde vesicle-mediated transport, Golgi to ER COPI vesicle coat|cytosol|extracellular space|microsome|soluble fraction hormone activity|structural molecule activity central_nervous_system(1)|endometrium(5)|kidney(5)|large_intestine(2)|lung(25)|ovary(1)|prostate(3)|skin(1)|stomach(1)|urinary_tract(2) 46 all_cancers(52;8.15e-18)|all_hematologic(112;0.093) BRCA - Breast invasive adenocarcinoma(70;0.111) AAAATCCTTTGGATACAGTCA 0.428000 92 33 0 0 0.000491102 0 0 SNRPB2 6629 broad.mit.edu 37 20 16721490 16721490 + Splice_Site SNP G A A TCGA-EE-A3AC-06A-11D-A196-08 TCGA-EE-A3AC-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 883d623b-c427-4444-9ee3-66d18648130f f8f00311-8db5-4187-bcb8-5054d9fbdac3 g.chr20:16721490G>A uc002wph.2 + 7 755 c.519_splice c.e7-1 p.Q173_splice SNRPB2_uc002wpi.2_Splice_Site_p.Q173_splice NM_003092 NP_937863 P08579 RU2B_HUMAN Homo sapiens small nuclear ribonucleoprotein polypeptide B (SNRPB2), transcript variant 1, mRNA. 173 RRM 2. U2 snRNP|catalytic step 2 spliceosome|nucleoplasm RNA binding|nucleotide binding|protein binding large_intestine(2)|lung(2)|urinary_tract(1) 5 CTTCTTTATAGGTTCCCTGGC 0.388000 19 13 0 0 0.000308642 0 0 ATP6V1B2 526 broad.mit.edu 37 8 20077788 20077788 + Missense_Mutation SNP C T T TCGA-EE-A3AC-06A-11D-A196-08 TCGA-EE-A3AC-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 883d623b-c427-4444-9ee3-66d18648130f f8f00311-8db5-4187-bcb8-5054d9fbdac3 g.chr8:20077788C>T uc003wzp.3 + 13 1625 c.1411C>T c.(1411-1413)Cgc>Tgc p.R471C ATP6V1B2_uc003wzq.1_Non-coding_Transcript NM_001693 NP_001684 P21281 VATB2_HUMAN Homo sapiens ATPase, H+ transporting, lysosomal 56/58kDa, V1 subunit B2 (ATP6V1B2), mRNA. 471 ATP hydrolysis coupled proton transport|cellular iron ion homeostasis|insulin receptor signaling pathway|transferrin transport Golgi apparatus|cytosol|endomembrane system|melanosome|plasma membrane|proton-transporting V-type ATPase, V1 domain ATP binding|hydrogen ion transporting ATP synthase activity, rotational mechanism|proton-transporting ATPase activity, rotational mechanism endometrium(1)|kidney(2)|lung(5)|prostate(1) 9 Colorectal(74;0.0535)|COAD - Colon adenocarcinoma(73;0.211) TTACGAAAATCGCACTGTCTT 0.393000 5 16 0 0 0.00152264 0 0 SLC15A1 6564 broad.mit.edu 37 13 99356649 99356649 + Missense_Mutation SNP C T T TCGA-EE-A3AC-06A-11D-A196-08 TCGA-EE-A3AC-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 883d623b-c427-4444-9ee3-66d18648130f f8f00311-8db5-4187-bcb8-5054d9fbdac3 g.chr13:99356649C>T uc001vno.3 - 16 1387 c.1310G>A c.(1309-1311)aGg>aAg p.R437K NM_005073 NP_005064 P46059 S15A1_HUMAN Homo sapiens solute carrier family 15 (oligopeptide transporter), member 1 (SLC15A1), mRNA. 437 digestion|protein transport integral to plasma membrane|membrane fraction peptide:hydrogen symporter activity breast(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(6)|lung(10)|ovary(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1) 30 all_neural(89;0.101)|Medulloblastoma(90;0.18)|Lung SC(71;0.184) Cefadroxil(DB01140)|Ceftibuten(DB01415)|Cyclacillin(DB01000) AATGTTTATCCTTGTCAGTTT 0.453000 54 24 0 0 0.00047179 0 0 KALRN 8997 broad.mit.edu 37 3 124153173 124153173 + Missense_Mutation SNP C T T TCGA-EE-A3AC-06A-11D-A196-08 TCGA-EE-A3AC-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 883d623b-c427-4444-9ee3-66d18648130f f8f00311-8db5-4187-bcb8-5054d9fbdac3 g.chr3:124153173C>T uc003ehg.3 + 16 2970 c.2843C>T c.(2842-2844)tCc>tTc p.S948F KALRN_uc010hrv.1_Intron|KALRN_uc003ehf.1_Missense_Mutation_p.S948F|KALRN_uc011bjy.1_Intron|KALRN_uc003ehh.1_Missense_Mutation_p.S294F NM_001024660 NP_001019831 O60229 KALRN_HUMAN Homo sapiens kalirin, RhoGEF kinase (KALRN), transcript variant 1, mRNA. 948 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|Rho guanyl-nucleotide exchange factor activity|metal ion binding|protein binding|protein serine/threonine kinase 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 CATGCCACTTCCTTGCAGAAG 0.607000 16 17 0 0 0.00188189 0 0 WDR25 79446 broad.mit.edu 37 14 100847981 100847981 + Silent SNP C T T TCGA-EE-A3AC-06A-11D-A196-08 TCGA-EE-A3AC-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 883d623b-c427-4444-9ee3-66d18648130f f8f00311-8db5-4187-bcb8-5054d9fbdac3 g.chr14:100847981C>T uc010avx.3 + 1 813 c.720C>T c.(718-720)ttC>ttT p.F240F WDR25_uc001yhn.3_Silent_p.F240F|WDR25_uc010avy.3_Non-coding_Transcript|WDR25_uc001yho.3_5'Flank|WDR25_uc021sbq.1_Silent_p.F232F NM_001161476 NP_078791 Q64LD2 WDR25_HUMAN Homo sapiens WD repeat domain 25 (WDR25), transcript variant 2, mRNA. 240 central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(5)|lung(8)|skin(1) 20 Melanoma(154;0.212) AAGTGCTTTTCCACCTGAGAG 0.498000 29 11 0 0 0.000673444 0 0 TRPC5 7224 broad.mit.edu 37 X 111095551 111095551 + Missense_Mutation SNP G A A TCGA-EE-A3AC-06A-11D-A196-08 TCGA-EE-A3AC-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 883d623b-c427-4444-9ee3-66d18648130f f8f00311-8db5-4187-bcb8-5054d9fbdac3 g.chrX:111095551G>A uc004epl.1 - 4 2271 c.1352C>T c.(1351-1353)tCc>tTc p.S451F TRPC5_uc004epm.1_Missense_Mutation_p.S451F NM_012471 NP_036603 Q9UL62 TRPC5_HUMAN Homo sapiens transient receptor potential cation channel, subfamily C, member 5 (TRPC5), mRNA. 451 axon guidance calcium channel complex|integral to plasma membrane protein binding|store-operated calcium channel activity biliary_tract(1)|breast(4)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(6)|lung(38)|pancreas(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 62 AATCTTCAGGGAAATAGTTGC 0.418000 3 26 0 0 0.00047179 0 0 ACTL7B 10880 broad.mit.edu 37 9 111617648 111617648 + Missense_Mutation SNP G A A TCGA-EE-A3AC-06A-11D-A196-08 TCGA-EE-A3AC-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 883d623b-c427-4444-9ee3-66d18648130f f8f00311-8db5-4187-bcb8-5054d9fbdac3 g.chr9:111617648G>A uc004bdi.3 - 0 628 c.563C>T c.(562-564)tCc>tTc p.S188F NM_006686 NP_006677 Q9Y614 ACL7B_HUMAN Homo sapiens actin-like 7B (ACTL7B), mRNA. 188 actin cytoskeleton|cytoplasm structural constituent of cytoskeleton endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(8)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1) 20 CTTGCCGTAGGAGTAGATGGA 0.657000 22 16 0 0 0.000566183 0 0 OR2AT4 341152 broad.mit.edu 37 11 74800065 74800065 + Missense_Mutation SNP G A A TCGA-EE-A3AC-06A-11D-A196-08 TCGA-EE-A3AC-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 883d623b-c427-4444-9ee3-66d18648130f f8f00311-8db5-4187-bcb8-5054d9fbdac3 g.chr11:74800065G>A uc010rro.2 - 0 694 c.694C>T c.(694-696)Cgc>Tgc p.R232C NM_001005285 NP_001005285 A6NND4 O2AT4_HUMAN Homo sapiens olfactory receptor, family 2, subfamily AT, member 4 (OR2AT4), mRNA. 232 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity endometrium(3)|large_intestine(3)|lung(3)|ovary(1)|upper_aerodigestive_tract(2) 12 GAACTGATGCGAAGCACTGAG 0.577000 13 11 0 0 0.000219431 0 0 ABCA6 23460 broad.mit.edu 37 17 67075144 67075144 + Nonsense_Mutation SNP C T T TCGA-EE-A3AC-06A-11D-A196-08 TCGA-EE-A3AC-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 883d623b-c427-4444-9ee3-66d18648130f f8f00311-8db5-4187-bcb8-5054d9fbdac3 g.chr17:67075144C>T uc002jhw.1 - 38 4999 c.4824G>A c.(4822-4824)tgG>tgA p.W1608* NM_080284 NP_525023 Q8N139 ABCA6_HUMAN Homo sapiens ATP-binding cassette, sub-family A (ABC1), member 6 (ABCA6), mRNA. 1608 transport integral to membrane ATP binding|ATPase activity breast(6)|endometrium(5)|kidney(17)|large_intestine(18)|lung(20)|ovary(3)|prostate(2)|skin(5)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(1) 82 Breast(10;5.65e-12) GGAGGAGTTTCCATCTCATTG 0.308000 19 26 0 0 0.00127121 0 0 CACNA1S 779 broad.mit.edu 37 1 201042689 201042690 + Missense_Mutation DNP GG TT TT TCGA-EE-A3AC-06A-11D-A196-08 TCGA-EE-A3AC-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 883d623b-c427-4444-9ee3-66d18648130f f8f00311-8db5-4187-bcb8-5054d9fbdac3 g.chr1:201042689_201042690GG>TT uc001gvv.3 - 14 2371_2372 c.2144_2145CC>AA c.(2143-2145)ccc>cAA p.P715Q NM_000069 NP_000060 Q13698 CAC1S_HUMAN Homo sapiens calcium channel, voltage-dependent, L type, alpha 1S subunit (CACNA1S), mRNA. 715 axon guidance I band|T-tubule|voltage-gated calcium channel complex high voltage-gated calcium channel activity NS(2)|breast(4)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(13)|large_intestine(19)|lung(37)|ovary(6)|prostate(3)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(2) 102 Magnesium Sulfate(DB00653)|Verapamil(DB00661) TGGCAGTGGTGGGGATGCCCTC 0.550000 464 15 0 0 6.4e-05 0 0 OR51L1 119682 broad.mit.edu 37 11 5020311 5020311 + Silent SNP C T T TCGA-EE-A3AC-06A-11D-A196-08 TCGA-EE-A3AC-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 883d623b-c427-4444-9ee3-66d18648130f f8f00311-8db5-4187-bcb8-5054d9fbdac3 g.chr11:5020311C>T uc010qyu.2 + 0 99 c.99C>T c.(97-99)ttC>ttT p.F33F NM_001004755 NP_001004755 Q8NGJ5 O51L1_HUMAN Homo sapiens olfactory receptor, family 51, subfamily L, member 1 (OR51L1), mRNA. 33 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(3)|lung(19)|skin(2)|stomach(1) 31 Medulloblastoma(188;0.0061)|all_neural(188;0.0479)|Breast(177;0.086) Epithelial(150;1.75e-11)|BRCA - Breast invasive adenocarcinoma(625;0.0285)|LUSC - Lung squamous cell carcinoma(625;0.19) CCATCCTCTTCTGTCTTGCAT 0.428000 46 31 0 0 0.00058488 0 0 RPS6KA4 8986 broad.mit.edu 37 11 64137218 64137218 + Silent SNP C T T TCGA-EE-A3AC-06A-11D-A196-08 TCGA-EE-A3AC-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 883d623b-c427-4444-9ee3-66d18648130f f8f00311-8db5-4187-bcb8-5054d9fbdac3 g.chr11:64137218C>T uc001oae.3 + 13 1733 c.1650C>T c.(1648-1650)atC>atT p.I550I RPS6KA4_uc001oad.3_Silent_p.I544I|RPS6KA4_uc010rnl.2_Silent_p.I487I|RPS6KA4_uc001oaf.3_Silent_p.I543I|RPS6KA4_uc009ypp.3_Intron NM_003942 NP_003933 O75676 KS6A4_HUMAN Homo sapiens ribosomal protein S6 kinase, 90kDa, polypeptide 4 (RPS6KA4), transcript variant 1, mRNA. 550 Protein kinase 2. axon guidance|histone phosphorylation|interleukin-1-mediated signaling pathway|intracellular protein kinase cascade|positive regulation of histone acetylation|positive regulation of histone phosphorylation|positive regulation of transcription from RNA polymerase II promoter cytoplasm|nucleus ATP binding|magnesium ion binding|mitogen-activated protein kinase p38 binding|ribosomal protein S6 kinase activity breast(1)|endometrium(3)|lung(7)|ovary(1)|prostate(1) 13 TGAAAATCATCGACTTCGGGT 0.716000 8 10 0 0 0.000442599 0 0 PLXNA4 91584 broad.mit.edu 37 7 131830012 131830012 + Silent SNP C T T TCGA-EE-A3AC-06A-11D-A196-08 TCGA-EE-A3AC-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 883d623b-c427-4444-9ee3-66d18648130f f8f00311-8db5-4187-bcb8-5054d9fbdac3 g.chr7:131830012C>T uc003vra.4 - 28 5320 c.5091G>A c.(5089-5091)gaG>gaA p.E1697E PLXNA4_uc003vqz.4_5'UTR NM_020911 NP_065962 Q9HCM2 PLXA4_HUMAN Homo sapiens plexin A4 (PLXNA4), transcript variant 1, mRNA. 1697 integral to membrane|intracellular|plasma membrane NS(1)|breast(1)|endometrium(3)|kidney(4)|large_intestine(14)|lung(17)|ovary(1)|prostate(2)|skin(1)|stomach(1) 45 TGAAGATGGTCTCAAAGAGGT 0.522000 26 11 0 0 0.000219431 0 0 SPATA5L1 79029 broad.mit.edu 37 15 45694681 45694681 + Silent SNP C T T TCGA-EE-A3AC-06A-11D-A196-08 TCGA-EE-A3AC-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 883d623b-c427-4444-9ee3-66d18648130f f8f00311-8db5-4187-bcb8-5054d9fbdac3 g.chr15:45694681C>T uc001zve.3 + 0 163 c.54C>T c.(52-54)ccC>ccT p.P18P BC039389_uc001zvd.3_5'Flank|SPATA5L1_uc001zvf.3_Non-coding_Transcript NM_024063 NP_076968 Q9BVQ7 SPA5L_HUMAN Homo sapiens spermatogenesis associated 5-like 1 (SPATA5L1), transcript variant 1, mRNA. 18 cytoplasm ATP binding|nucleoside-triphosphatase activity kidney(2)|large_intestine(3)|lung(1)|ovary(3)|prostate(3)|skin(1)|upper_aerodigestive_tract(1) 14 Lung NSC(122;8.3e-05)|all_lung(180;0.000547)|Melanoma(134;0.0417) all cancers(107;7.31e-17)|GBM - Glioblastoma multiforme(94;6.28e-07) AGCTGCTACCCTTAGACGCTA 0.652000 7 6 0 0 0.000157383 0 0 FER1L6 654463 broad.mit.edu 37 8 125072930 125072930 + Nonsense_Mutation SNP C T T TCGA-EE-A3AC-06A-11D-A196-08 TCGA-EE-A3AC-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 883d623b-c427-4444-9ee3-66d18648130f f8f00311-8db5-4187-bcb8-5054d9fbdac3 g.chr8:125072930C>T uc003yqw.3 + 23 3333 c.3127C>T c.(3127-3129)Cag>Tag p.Q1043* AK057332_uc003yqy.1_Non-coding_Transcript NM_001039112 NP_001034201 Q2WGJ9 FR1L6_HUMAN Homo sapiens fer-1-like 6 (C. elegans) (FER1L6), mRNA. 1043 integral to membrane NS(2)|breast(3)|central_nervous_system(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(3)|kidney(6)|large_intestine(18)|liver(1)|lung(49)|ovary(5)|prostate(3)|skin(8)|stomach(2)|upper_aerodigestive_tract(6)|urinary_tract(1) 118 Lung NSC(37;4.1e-12)|Ovarian(258;0.00438)|all_neural(195;0.0741) STAD - Stomach adenocarcinoma(47;0.00186) CTTCAGCATCCAGGCAGACGC 0.527000 49 17 0 0 0.000958276 0 0 CAPN11 11131 broad.mit.edu 37 6 44144023 44144023 + Missense_Mutation SNP C T T TCGA-EE-A3AC-06A-11D-A196-08 TCGA-EE-A3AC-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 883d623b-c427-4444-9ee3-66d18648130f f8f00311-8db5-4187-bcb8-5054d9fbdac3 g.chr6:44144023C>T uc003owt.1 + 8 987 c.949C>T c.(949-951)Cgg>Tgg p.R317W CAPN11_uc011dvn.2_5'Flank NM_007058 NP_008989 Q9UMQ6 CAN11_HUMAN Homo sapiens calpain 11 (CAPN11), mRNA. 317 Calpain catalytic. proteolysis acrosomal vesicle calcium ion binding|calcium-dependent cysteine-type endopeptidase activity breast(3)|endometrium(5)|kidney(1)|large_intestine(5)|lung(17)|ovary(1)|pancreas(1)|prostate(2)|stomach(1) 36 all_cancers(18;3.19e-06)|Lung NSC(15;0.00108)|all_lung(25;0.00278)|Hepatocellular(11;0.00908)|Ovarian(13;0.0273) Colorectal(64;0.00337)|COAD - Colon adenocarcinoma(64;0.00536) AACACTGATTCGGGTCCGGAA 0.587000 34 24 0 0 0.00209593 0 0 RBM14 10432 broad.mit.edu 37 11 66393940 66393940 + Missense_Mutation SNP C T T TCGA-EE-A3AC-06A-11D-A196-08 TCGA-EE-A3AC-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 883d623b-c427-4444-9ee3-66d18648130f f8f00311-8db5-4187-bcb8-5054d9fbdac3 g.chr11:66393940C>T uc001oit.3 + 2 1950 c.1811C>T c.(1810-1812)tCc>tTc p.S604F RBM14_uc009yri.3_Missense_Mutation_p.P153S|RBM14_uc009yrh.3_Missense_Mutation_p.P116S|RBM14_uc009yrj.3_Intron|RBM14_uc009yrk.3_Intron|RBM14_uc021qmb.1_Intron|RBM14_uc021qmc.1_3'UTR NM_006328 NP_006319 Q96PK6 RBM14_HUMAN Homo sapiens RNA binding motif protein 14 (RBM14), transcript variant 1, mRNA. 604 DNA recombination|DNA repair|DNA replication|estrogen receptor signaling pathway|glucocorticoid receptor signaling pathway|histone deacetylation|positive regulation of transcription from RNA polymerase II promoter|response to hormone stimulus mediator complex|ribonucleoprotein complex|transcription factor complex RNA binding|RNA polymerase II transcription cofactor activity|ligand-dependent nuclear receptor transcription coactivator activity|nucleotide binding|protein binding, bridging RBM14/PACS1(2) breast(2)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(3)|lung(3)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1) 17 AGGTATGGTTCCGACCGGCGT 0.572000 52 41 0 0 0.000781405 0 0 WDR24 84219 broad.mit.edu 37 16 739256 739256 + Missense_Mutation SNP G A A TCGA-EE-A3AC-06A-11D-A196-08 TCGA-EE-A3AC-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 883d623b-c427-4444-9ee3-66d18648130f f8f00311-8db5-4187-bcb8-5054d9fbdac3 g.chr16:739256G>A uc002ciz.1 - 0 1145 c.385C>T c.(385-387)Cac>Tac p.H129Y NM_032259 NP_115635 Q96S15 WDR24_HUMAN Homo sapiens WD repeat domain 24 (WDR24), mRNA. 191 breast(3)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(5)|ovary(1)|prostate(1)|urinary_tract(3) 19 Hepatocellular(780;0.0218) TCGGTGGGGTGGAAGCAGACT 0.587000 23 16 0 0 0.000566183 0 0 CAD 790 broad.mit.edu 37 2 27454446 27454446 + Missense_Mutation SNP A G G TCGA-EE-A3AC-06A-11D-A196-08 TCGA-EE-A3AC-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 883d623b-c427-4444-9ee3-66d18648130f f8f00311-8db5-4187-bcb8-5054d9fbdac3 g.chr2:27454446A>G uc002rji.3 + 15 2560 c.2398A>G c.(2398-2400)Atg>Gtg p.M800V CAD_uc010eyw.3_Missense_Mutation_p.M737V NM_004341 NP_004332 P27708 PYR1_HUMAN Homo sapiens carbamoyl-phosphate synthetase 2, aspartate transcarbamylase, and dihydroorotase (CAD), mRNA. 800 CPSase (Carbamoyl-phosphate synthase).|CPSase A. 'de novo' pyrimidine base biosynthetic process|drug metabolic process|glutamine metabolic process|peptidyl-threonine phosphorylation|protein autophosphorylation|pyrimidine nucleoside biosynthetic process|pyrimidine nucleotide biosynthetic process cytosol|neuronal cell body|nuclear matrix|terminal button ATP binding|aspartate binding|aspartate carbamoyltransferase activity|carbamoyl-phosphate synthase (glutamine-hydrolyzing) activity|dihydroorotase activity|enzyme binding|identical protein binding|metal ion binding|protein kinase activity NS(1)|breast(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(19)|lung(40)|ovary(6)|pancreas(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 92 Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215) L-Aspartic Acid(DB00128)|L-Glutamine(DB00130) AGTCAGCGATATGGTAAGTAG 0.537000 19 21 0 0 0.00229938 0 0 CNTNAP4 85445 broad.mit.edu 37 16 76482753 76482753 + Nonsense_Mutation SNP C T T TCGA-EE-A3AC-06A-11D-A196-08 TCGA-EE-A3AC-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 883d623b-c427-4444-9ee3-66d18648130f f8f00311-8db5-4187-bcb8-5054d9fbdac3 g.chr16:76482753C>T uc002fex.1 + 4 980 c.841C>T c.(841-843)Cag>Tag p.Q281* CNTNAP4_uc002feu.1_Nonsense_Mutation_p.Q277*|CNTNAP4_uc002fev.1_Nonsense_Mutation_p.Q190*|CNTNAP4_uc010chb.1_Nonsense_Mutation_p.Q253*|CNTNAP4_uc002few.2_Nonsense_Mutation_p.Q253* NM_033401 NP_207837 Q9C0A0 CNTP4_HUMAN Homo sapiens contactin associated protein-like 4 (CNTNAP4), transcript variant 1, mRNA. 278 Laminin G-like 1. cell adhesion|signal transduction integral to membrane receptor binding breast(4)|central_nervous_system(1)|cervix(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(6)|lung(33)|ovary(2)|pancreas(1)|prostate(3)|upper_aerodigestive_tract(1) 64 AGTGCTCATCCAGCGTTTGGG 0.488000 12 9 0 0 0.000442599 0 0 B3GALT5 10317 broad.mit.edu 37 21 41032744 41032744 + Silent SNP G A A TCGA-EE-A3AC-06A-11D-A196-08 TCGA-EE-A3AC-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 883d623b-c427-4444-9ee3-66d18648130f f8f00311-8db5-4187-bcb8-5054d9fbdac3 g.chr21:41032744G>A uc021wjj.1 + 0 258 c.258G>A c.(256-258)gtG>gtA p.V86V B3GALT5_uc002yyb.1_Silent_p.V86V|B3GALT5_uc002yye.2_Silent_p.V86V|B3GALT5_uc002yyi.1_Silent_p.V86V|B3GALT5_uc002yyj.1_Silent_p.V86V|B3GALT5_uc002yyk.1_Silent_p.V86V|B3GALT5_uc002yyl.1_Silent_p.V86V|B3GALT5_uc002yym.1_Silent_p.V86V NM_033173 NP_149363 Q9Y2C3 B3GT5_HUMAN Homo sapiens UDP-Gal:betaGlcNAc beta 1,3-galactosyltransferase, polypeptide 5 (B3GALT5), transcript variant 5, mRNA. 86 protein glycosylation Golgi membrane|endoplasmic reticulum|integral to membrane UDP-galactose:beta-N-acetylglucosamine beta-1,3-galactosyltransferase activity p.M85I(2) breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(5)|prostate(1)|skin(4)|stomach(1)|urinary_tract(1) 16 Prostate(19;2.55e-06) AGAGGATGGTGAAGGGAAAGC 0.592000 13 11 0 0 0.000673444 0 0 ZBED1 9189 broad.mit.edu 37 X 2406784 2406784 + Silent SNP G T T TCGA-EE-A3AC-06A-11D-A196-08 TCGA-EE-A3AC-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 883d623b-c427-4444-9ee3-66d18648130f f8f00311-8db5-4187-bcb8-5054d9fbdac3 g.chrX:2406784G>T uc022brx.1 - 0 1977 c.1977C>A c.(1975-1977)ccC>ccA p.P659P DHRSX_uc004cqf.4_Intron|ZBED1_uc004cqh.2_Silent_p.P659P|ZBED1_uc004cqg.2_Silent_p.P659P|ZBED1_uc022brw.1_Silent_p.P659P NM_004729 NP_004720 O96006 ZBED1_HUMAN Homo sapiens zinc finger, BED-type containing 1 (ZBED1), transcript variant 2, mRNA. 659 nuclear chromosome DNA binding|metal ion binding|protein dimerization activity|transposase activity endometrium(8)|kidney(1)|large_intestine(3)|lung(11)|prostate(1)|upper_aerodigestive_tract(1) 25 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) CCTGGTCCTCGGGTTCCGCCT 0.652000 90 5 0.00198382 0.00892858 0.00198382 1 0 NCAN 1463 broad.mit.edu 37 19 19329750 19329750 + Missense_Mutation SNP G A A TCGA-EE-A3AC-06A-11D-A196-08 TCGA-EE-A3AC-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 883d623b-c427-4444-9ee3-66d18648130f f8f00311-8db5-4187-bcb8-5054d9fbdac3 g.chr19:19329750G>A uc002nlz.3 + 2 199 c.100G>A c.(100-102)Gaa>Aaa p.E34K NM_004386 NP_004377 O14594 NCAN_HUMAN Homo sapiens neurocan (NCAN), mRNA. 34 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) CGATGCCAGCGAAAGGGGGCT 0.607000 21 14 0 0 0.000422831 0 0 OR51I1 390063 broad.mit.edu 37 11 5462122 5462122 + Missense_Mutation SNP G A A TCGA-EE-A3AC-06A-11D-A196-08 TCGA-EE-A3AC-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 883d623b-c427-4444-9ee3-66d18648130f f8f00311-8db5-4187-bcb8-5054d9fbdac3 g.chr11:5462122G>A uc010qze.2 - 0 662 c.623C>T c.(622-624)aCc>aTc p.T208I HBG1_uc001mak.1_Intron|HBE1_uc001mam.1_Intron|OR51B5_uc021qcv.1_Intron|OR51B5_uc001maq.2_Intron NM_001005288 NP_001005288 Q9H343 O51I1_HUMAN Homo sapiens olfactory receptor, family 51, subfamily I, member 1 (OR51I1), mRNA. 208 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity central_nervous_system(1)|endometrium(1)|large_intestine(6)|lung(17)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2) 30 Medulloblastoma(188;0.0075)|all_neural(188;0.0572)|Breast(177;0.0675) Epithelial(150;1.92e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135) CATACCATAGGTAAAAATGAT 0.453000 6 6 0 0 0.00116845 0 0 SEZ6L2 26470 broad.mit.edu 37 16 29891210 29891210 + Nonsense_Mutation SNP C T T TCGA-EE-A3AC-06A-11D-A196-08 TCGA-EE-A3AC-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 883d623b-c427-4444-9ee3-66d18648130f f8f00311-8db5-4187-bcb8-5054d9fbdac3 g.chr16:29891210C>T uc010vec.2 - 8 1793 c.1548G>A c.(1546-1548)tgG>tgA p.W516* BOLA2_uc010bzb.1_Intron|SEZ6L2_uc002dup.4_Nonsense_Mutation_p.W446*|SEZ6L2_uc002dur.4_Nonsense_Mutation_p.W446*|SEZ6L2_uc002duq.4_Nonsense_Mutation_p.W516*|SEZ6L2_uc010ved.2_Nonsense_Mutation_p.W472*|SEZ6L2_uc002dus.4_Nonsense_Mutation_p.W402* NM_001243332 NP_001230261 Q6UXD5 SE6L2_HUMAN Homo sapiens seizure related 6 homolog (mouse)-like 2 (SEZ6L2), transcript variant 5, mRNA. 516 Sushi 2. endoplasmic reticulum membrane|integral to membrane|plasma membrane breast(2)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(10)|lung(16)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 39 CTGTGTCGTTCCAGTGGGGTT 0.627000 99 74 0 0 0.000781405 0 0 OR4C46 119749 broad.mit.edu 37 11 51515496 51515496 + Missense_Mutation SNP C T T TCGA-EE-A3AC-06A-11D-A196-08 TCGA-EE-A3AC-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 883d623b-c427-4444-9ee3-66d18648130f f8f00311-8db5-4187-bcb8-5054d9fbdac3 g.chr11:51515496C>T uc010ric.2 + 0 215 c.215C>T c.(214-216)tCc>tTc p.S72F NM_001004703 NP_001004703 A6NHA9 O4C46_HUMAN Homo sapiens olfactory receptor, family 4, subfamily C, member 46 (OR4C46), mRNA. 72 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity endometrium(5)|large_intestine(5)|lung(31)|ovary(3)|skin(3)|upper_aerodigestive_tract(1) 48 GCCTGCTATTCCTCTGTCAAT 0.473000 66 37 0 0 0.00111076 0 0 EML1 2009 broad.mit.edu 37 14 100363551 100363551 + Silent SNP C T T TCGA-EE-A3AC-06A-11D-A196-08 TCGA-EE-A3AC-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 883d623b-c427-4444-9ee3-66d18648130f f8f00311-8db5-4187-bcb8-5054d9fbdac3 g.chr14:100363551C>T uc001ygr.3 + 7 873 c.804C>T c.(802-804)ttC>ttT p.F268F EML1_uc010avt.1_Silent_p.F236F|EML1_uc010tww.2_Silent_p.F237F|EML1_uc001ygq.3_Silent_p.F268F|EML1_uc001ygs.3_Silent_p.F249F NM_001008707 NP_001008707 O00423 EMAL1_HUMAN Homo sapiens echinoderm microtubule associated protein like 1 (EML1), transcript variant 1, mRNA. 249 cytoplasm|microtubule|microtubule associated complex calcium ion binding|protein binding breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(15)|lung(9)|ovary(1)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1) 42 Melanoma(154;0.0879)|all_epithelial(191;0.216) CCGTCTACTTCATCGCATCCG 0.493000 26 33 0 0 0.000814825 0 0 P2RY10 27334 broad.mit.edu 37 X 78216491 78216491 + Silent SNP C T T TCGA-EE-A3AC-06A-11D-A196-08 TCGA-EE-A3AC-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 883d623b-c427-4444-9ee3-66d18648130f f8f00311-8db5-4187-bcb8-5054d9fbdac3 g.chrX:78216491C>T uc022bzl.1 + 0 474 c.474C>T c.(472-474)atC>atT p.I158I P2RY10_uc004ede.3_Silent_p.I158I|P2RY10_uc004edf.3_Silent_p.I158I NM_198333 NP_938147 O00398 P2Y10_HUMAN Homo sapiens purinergic receptor P2Y, G-protein coupled, 10 (P2RY10), transcript variant 2, mRNA. 158 integral to membrane|plasma membrane purinergic nucleotide receptor activity, G-protein coupled p.I158I(2) breast(2)|central_nervous_system(1)|endometrium(3)|large_intestine(9)|lung(22)|ovary(3)|skin(2) 42 CCATCTGGATCGTTGTGGGGA 0.493000 9 18 0 0 0.00121646 0 0 ALDH4A1 8659 broad.mit.edu 37 1 19204015 19204015 + Silent SNP A C C TCGA-EE-A3AC-06A-11D-A196-08 TCGA-EE-A3AC-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 883d623b-c427-4444-9ee3-66d18648130f f8f00311-8db5-4187-bcb8-5054d9fbdac3 g.chr1:19204015A>C uc001bbb.3 - 9 1308 c.1032T>G c.(1030-1032)ggT>ggG p.G344G ALDH4A1_uc010ocu.2_Silent_p.G284G|ALDH4A1_uc001bbc.3_Silent_p.G344G|ALDH4A1_uc021ohl.1_Silent_p.G344G NM_170726 NP_001154976 P30038 AL4A1_HUMAN Homo sapiens aldehyde dehydrogenase 4 family, member A1 (ALDH4A1), nuclear gene encoding mitochondrial protein, transcript variant P5CDhS, mRNA. 344 proline biosynthetic process|proline catabolic process mitochondrial matrix 1-pyrroline-5-carboxylate dehydrogenase activity|aldehyde dehydrogenase (NAD) activity|electron carrier activity cervix(2)|endometrium(1)|large_intestine(3)|lung(8)|prostate(1) 15 Colorectal(325;3.46e-05)|all_lung(284;0.000321)|Lung NSC(340;0.000398)|Renal(390;0.000518)|Breast(348;0.000812)|Ovarian(437;0.00764)|Myeloproliferative disorder(586;0.0255) UCEC - Uterine corpus endometrioid carcinoma (279;0.00479)|BRCA - Breast invasive adenocarcinoma(304;3.67e-05)|Kidney(64;0.000182)|KIRC - Kidney renal clear cell carcinoma(64;0.00269)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649) NADH(DB00157) ACTTCTGGCCACCGTACTCGA 0.647000 15 4 0 0 0.00024832 0 0 MCC 4163 broad.mit.edu 37 5 112720758 112720758 + Missense_Mutation SNP C T T TCGA-EE-A3AC-06A-11D-A196-08 TCGA-EE-A3AC-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 883d623b-c427-4444-9ee3-66d18648130f f8f00311-8db5-4187-bcb8-5054d9fbdac3 g.chr5:112720758C>T uc003kql.4 - 1 738 c.322G>A c.(322-324)Gaa>Aaa p.E108K MCC_uc003kqk.4_Non-coding_Transcript NM_001085377 NP_001078846 P23508 CRCM_HUMAN Homo sapiens mutated in colorectal cancers (MCC), transcript variant 1, mRNA. 0 Wnt receptor signaling pathway|negative regulation of canonical Wnt receptor signaling pathway|negative regulation of epithelial cell migration|negative regulation of epithelial cell proliferation cytoplasm|nucleus|plasma membrane protein binding|receptor activity endometrium(4)|kidney(3)|large_intestine(15)|liver(2)|lung(8)|ovary(2)|pancreas(1)|prostate(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 42 all_cancers(142;5.89e-08)|all_epithelial(76;3.57e-11)|all_lung(232;0.000605)|Lung NSC(810;0.000697)|Colorectal(10;0.00146)|Prostate(80;0.00174)|Ovarian(225;0.0175)|Breast(839;0.198) OV - Ovarian serous cystadenocarcinoma(64;2.04e-54)|Epithelial(69;9.69e-49)|all cancers(49;6.25e-44)|COAD - Colon adenocarcinoma(37;0.0432)|Colorectal(14;0.0766) AGATCTACTTCCTCCTTCCTA 0.453000 62 33 0 0 0.00111076 0 0 IL7R 3575 broad.mit.edu 37 5 35876084 35876084 + Splice_Site SNP G A A TCGA-EE-A3AC-06A-11D-A196-08 TCGA-EE-A3AC-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 883d623b-c427-4444-9ee3-66d18648130f f8f00311-8db5-4187-bcb8-5054d9fbdac3 g.chr5:35876084G>A uc003jjs.3 + 8 966 c.877_splice c.e8-1 p.N293_splice IL7R_uc011cop.2_Splice_Site NM_002185 NP_002176 P16871 IL7RA_HUMAN Homo sapiens interleukin 7 receptor (IL7R), mRNA. 293 immune response|regulation of DNA recombination extracellular region|integral to membrane antigen binding|interleukin-7 receptor activity NS(1)|breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(78)|kidney(2)|large_intestine(6)|lung(25)|ovary(3)|pancreas(1)|skin(5)|stomach(3) 126 all_lung(31;0.00015) Lung(74;0.111)|COAD - Colon adenocarcinoma(61;0.14)|Epithelial(62;0.187)|Colorectal(62;0.202) TTTCTGTGCAGAATTTAAATG 0.413000 """Mis, O""" """ALL, ETP ALL""" Severe combined immune deficiency 27 18 0 0 0.00074312 0 0 IFIH1 64135 broad.mit.edu 37 2 163128858 163128858 + Silent SNP G A A TCGA-EE-A3AC-06A-11D-A196-08 TCGA-EE-A3AC-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 883d623b-c427-4444-9ee3-66d18648130f f8f00311-8db5-4187-bcb8-5054d9fbdac3 g.chr2:163128858G>A uc002uce.3 - 12 2716 c.2494C>T c.(2494-2496)Ctg>Ttg p.L832L NM_022168 NP_071451 Q9BYX4 IFIH1_HUMAN Homo sapiens interferon induced with helicase C domain 1 (IFIH1), mRNA. 832 Helicase C-terminal. detection of virus|innate immune response|interspecies interaction between organisms|negative regulation of type I interferon production|positive regulation of interferon-alpha production|positive regulation of interferon-beta production|regulation of apoptosis cytosol|nucleus ATP binding|DNA binding|double-stranded RNA binding|helicase activity|protein binding|ribonucleoprotein binding|zinc ion binding NS(1)|breast(2)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(6)|lung(14)|ovary(1)|prostate(2)|skin(3)|urinary_tract(1) 39 TGAGCAACCAGGACGTAGGTG 0.413000 14 9 0 0 0.000442599 0 0 TRAF1 7185 broad.mit.edu 37 9 123676003 123676003 + Missense_Mutation SNP G A A TCGA-EE-A3AC-06A-11D-A196-08 TCGA-EE-A3AC-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 883d623b-c427-4444-9ee3-66d18648130f f8f00311-8db5-4187-bcb8-5054d9fbdac3 g.chr9:123676003G>A uc004bku.2 - 4 880 c.308C>T c.(307-309)tCt>tTt p.S103F TRAF1_uc011lyg.2_5'UTR|TRAF1_uc010mvl.2_Missense_Mutation_p.S103F NM_005658 NP_001177876 Q13077 TRAF1_HUMAN Homo sapiens TNF receptor-associated factor 1 (TRAF1), transcript variant 1, mRNA. 103 apoptosis|positive regulation of NF-kappaB transcription factor activity|protein complex assembly|regulation of apoptosis|signal transduction cytoplasm protein binding|zinc ion binding breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(9)|ovary(4)|pancreas(1)|skin(2) 22 CTCTTGCACAGACTGTGGGCT 0.577000 28 20 0 0 0.00229938 0 0 TLR4 7099 broad.mit.edu 37 9 120475571 120475571 + Missense_Mutation SNP G A A TCGA-EE-A3AC-06A-11D-A196-08 TCGA-EE-A3AC-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 883d623b-c427-4444-9ee3-66d18648130f f8f00311-8db5-4187-bcb8-5054d9fbdac3 g.chr9:120475571G>A uc004bjz.3 + 2 1456 c.1165G>A c.(1165-1167)Ggt>Agt p.G389S TLR4_uc004bkb.3_Missense_Mutation_p.G189S|TLR4_uc004bka.3_Missense_Mutation_p.G349S NM_138554 NP_612564 O00206 TLR4_HUMAN Homo sapiens toll-like receptor 4 (TLR4), transcript variant 1, mRNA. 389 I-kappaB phosphorylation|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|T-helper 1 type immune response|Toll signaling pathway|activation of MAPK activity|cellular response to mechanical stimulus|detection of fungus|detection of lipopolysaccharide|innate immune response|intestinal epithelial structure maintenance|negative regulation of ERK1 and ERK2 cascade|negative regulation of interferon-gamma production|negative regulation of interleukin-17 production|negative regulation of interleukin-23 production|negative regulation of interleukin-6 production|negative regulation of osteoclast differentiation|negative regulation of tumor necrosis factor production|positive regulation of NF-kappaB import into nucleus|positive regulation of NF-kappaB transcription factor activity|positive regulation of chemokine production|positive regulation of interferon-alpha production|positive regulation of interferon-beta production|positive regulation of interferon-gamma production|positive regulation of interleukin-1 production|positive regulation of interleukin-10 production|positive regulation of interleukin-12 biosynthetic process|positive regulation of interleukin-12 production|positive regulation of interleukin-6 production|positive regulation of interleukin-8 biosynthetic process|positive regulation of interleukin-8 production|positive regulation of nitric-oxide synthase biosynthetic process|positive regulation of platelet activation|positive regulation of transcription from RNA polymerase II promoter|positive regulation of tumor necrosis factor biosynthetic process|positive regulation of tumor necrosis factor production|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 4 signaling pathway external side of plasma membrane|integral to plasma membrane|lipopolysaccharide receptor complex|perinuclear region of cytoplasm lipopolysaccharide receptor activity|transmembrane receptor activity breast(2)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(12)|lung(66)|ovary(4)|pancreas(1)|skin(6)|upper_aerodigestive_tract(5)|urinary_tract(1) 103 GAGTTTCAAAGGTTGCTGTTC 0.393000 13 6 0 0 0.00116845 0 0 MAGEA10 4109 broad.mit.edu 37 X 151303157 151303157 + Silent SNP C T T TCGA-EE-A3AC-06A-11D-A196-08 TCGA-EE-A3AC-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 883d623b-c427-4444-9ee3-66d18648130f f8f00311-8db5-4187-bcb8-5054d9fbdac3 g.chrX:151303157C>T uc022cgz.1 - 0 936 c.936G>A c.(934-936)ctG>ctA p.L312L MAGEA5_uc022cgy.1_Intron|MAGEA10_uc004ffk.3_Silent_p.L312L|MAGEA10_uc004ffm.2_Silent_p.L312L|MAGEA10_uc004ffl.3_Silent_p.L312L NM_021048 NP_066386 P43363 MAGAA_HUMAN Homo sapiens melanoma antigen family A, 10 (MAGEA10), transcript variant 2, mRNA. 312 MAGE. endometrium(2)|kidney(2)|large_intestine(4)|lung(11)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 23 Acute lymphoblastic leukemia(192;6.56e-05) CCAAAAATTTCAGGAGACTCA 0.502000 7 60 0 0 0.000781405 0 0 HRNR 388697 broad.mit.edu 37 1 152192059 152192060 + Missense_Mutation DNP GG AA AA TCGA-EE-A3AC-06A-11D-A196-08 TCGA-EE-A3AC-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 883d623b-c427-4444-9ee3-66d18648130f f8f00311-8db5-4187-bcb8-5054d9fbdac3 g.chr1:152192059_152192060GG>AA uc001ezt.1 - 2 2121_2122 c.2045_2046CC>TT c.(2044-2046)tcc>tTT p.S682F NM_001009931 NP_001009931 Q86YZ3 HORN_HUMAN Homo sapiens hornerin (HRNR), mRNA. 682 keratinization calcium ion binding|protein binding autonomic_ganglia(1)|breast(6)|central_nervous_system(2)|cervix(2)|endometrium(22)|haematopoietic_and_lymphoid_tissue(1)|kidney(11)|large_intestine(19)|liver(1)|lung(84)|ovary(5)|prostate(6)|skin(12)|stomach(9)|upper_aerodigestive_tract(5)|urinary_tract(6) 192 Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127) LUSC - Lung squamous cell carcinoma(543;0.206) AAGACCAACCGGAGCCAGACCC 0.589000 66 103 0 0 6.4e-05 0 0 RIMS2 9699 broad.mit.edu 37 8 104924360 104924360 + Missense_Mutation SNP G A A TCGA-EE-A3AC-06A-11D-A196-08 TCGA-EE-A3AC-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 883d623b-c427-4444-9ee3-66d18648130f f8f00311-8db5-4187-bcb8-5054d9fbdac3 g.chr8:104924360G>A uc003yls.3 + 3 1347 c.1106G>A c.(1105-1107)gGa>gAa p.G369E RIMS2_uc003ylp.3_Missense_Mutation_p.G591E|RIMS2_uc003ylw.2_Missense_Mutation_p.G399E|RIMS2_uc003ylq.3_Missense_Mutation_p.G399E|RIMS2_uc003ylr.3_Missense_Mutation_p.G446E|RIMS2_uc003ylt.3_5'UTR NM_014677 NP_055492 Q9UQ26 RIMS2_HUMAN Homo sapiens regulating synaptic membrane exocytosis 2 (RIMS2), transcript variant 2, mRNA. 669 intracellular protein transport cell junction|presynaptic membrane Rab GTPase binding|metal ion binding NS(1)|breast(4)|central_nervous_system(5)|endometrium(8)|haematopoietic_and_lymphoid_tissue(4)|kidney(2)|large_intestine(22)|liver(1)|lung(68)|ovary(6)|pancreas(2)|prostate(3)|skin(6)|stomach(1)|upper_aerodigestive_tract(10)|urinary_tract(1) 144 OV - Ovarian serous cystadenocarcinoma(57;7.7e-07)|STAD - Stomach adenocarcinoma(118;0.229) CTAAAAGATGGAAGTGTACCT 0.373000 HNSCC(12;0.0054) 40 32 0 0 0.000692331 0 0 OR4C6 219432 broad.mit.edu 37 11 55433041 55433041 + Silent SNP C T T TCGA-EE-A3AC-06A-11D-A196-08 TCGA-EE-A3AC-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 883d623b-c427-4444-9ee3-66d18648130f f8f00311-8db5-4187-bcb8-5054d9fbdac3 g.chr11:55433041C>T uc010rik.2 + 0 399 c.399C>T c.(397-399)atC>atT p.I133I NM_001004704 NP_001004704 Q8NH72 OR4C6_HUMAN Homo sapiens olfactory receptor, family 4, subfamily C, member 6 (OR4C6), mRNA. 133 I -> T (in dbSNP:rs11230600). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity breast(2)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(4)|lung(49)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2) 71 ACACGATCATCATGAGTCCAC 0.512000 7 7 0 0 0.000157383 0 0 CPA5 93979 broad.mit.edu 37 7 130008271 130008271 + Missense_Mutation SNP G A A TCGA-EE-A3AC-06A-11D-A196-08 TCGA-EE-A3AC-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 883d623b-c427-4444-9ee3-66d18648130f f8f00311-8db5-4187-bcb8-5054d9fbdac3 g.chr7:130008271G>A uc010lmd.1 + 13 1764 c.1144G>A c.(1144-1146)Gtc>Atc p.V382I CPA5_uc003vps.2_Missense_Mutation_p.V382I|CPA5_uc003vpt.2_Silent_p.P353P|CPA5_uc010lme.1_Missense_Mutation_p.V382I|CPA5_uc003vpu.1_Missense_Mutation_p.V382I|AK097910_uc003vpv.1_Non-coding_Transcript NM_001127441 NP_525124 Q8WXQ8 CBPA5_HUMAN Homo sapiens carboxypeptidase A5 (CPA5), transcript variant 2, mRNA. 382 proteolysis extracellular region metallocarboxypeptidase activity|zinc ion binding NS(2)|breast(2)|endometrium(2)|large_intestine(7)|lung(4)|ovary(3)|pancreas(1)|skin(2) 23 Melanoma(18;0.0435) TGGGATCACCGTCGACTGGGC 0.557000 75 36 0 0 0.00148497 0 0 MXRA5 25878 broad.mit.edu 37 X 3239556 3239556 + Missense_Mutation SNP C G G TCGA-EE-A3AC-06A-11D-A196-08 TCGA-EE-A3AC-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 883d623b-c427-4444-9ee3-66d18648130f f8f00311-8db5-4187-bcb8-5054d9fbdac3 g.chrX:3239556C>G uc004crg.4 - 4 4327 c.4170G>C c.(4168-4170)agG>agC p.R1390S NM_015419 NP_056234 Q9NR99 MXRA5_HUMAN Homo sapiens matrix-remodelling associated 5 (MXRA5), mRNA. 1390 extracellular region p.R1390W(1) 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) CTGTCTGTAGCCTCCCAGGCT 0.498000 4 5 0 0 0.000602214 0 0 SEMA3F 6405 broad.mit.edu 37 3 50211368 50211368 + Silent SNP C T T TCGA-EE-A3AC-06A-11D-A196-08 TCGA-EE-A3AC-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 883d623b-c427-4444-9ee3-66d18648130f f8f00311-8db5-4187-bcb8-5054d9fbdac3 g.chr3:50211368C>T uc003cyj.3 + 2 453 c.255C>T c.(253-255)atC>atT p.I85I SEMA3F_uc003cyk.3_Silent_p.I85I NM_004186 NP_004177 Q13275 SEM3F_HUMAN Homo sapiens sema domain, immunoglobulin domain (Ig), short basic domain, secreted, (semaphorin) 3F (SEMA3F), mRNA. 85 Sema. axon guidance extracellular space|membrane chemorepellent activity|receptor activity central_nervous_system(1)|kidney(1)|large_intestine(2)|lung(9)|ovary(1)|prostate(1)|skin(2) 17 BRCA - Breast invasive adenocarcinoma(193;0.00013)|KIRC - Kidney renal clear cell carcinoma(197;0.00599)|Kidney(197;0.00688) TGCACGACATCAACCGCGAGC 0.617000 16 19 0 0 0.00047179 0 0 OR52D1 390066 broad.mit.edu 37 11 5510206 5510206 + Silent SNP C T T TCGA-EE-A3AC-06A-11D-A196-08 TCGA-EE-A3AC-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 883d623b-c427-4444-9ee3-66d18648130f f8f00311-8db5-4187-bcb8-5054d9fbdac3 g.chr11:5510206C>T uc010qzg.2 + 0 292 c.270C>T c.(268-270)ctC>ctT p.L90L HBG1_uc001mak.1_Intron|HBE1_uc001mam.1_Intron|OR51B5_uc021qcv.1_Intron|OR51B5_uc001maq.2_Intron NM_001005163 NP_001005163 Q9H346 O52D1_HUMAN Homo sapiens olfactory receptor, family 52, subfamily D, member 1 (OR52D1), mRNA. 90 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity central_nervous_system(1)|cervix(1)|endometrium(3)|large_intestine(5)|lung(8)|prostate(1)|skin(2)|upper_aerodigestive_tract(1) 22 Medulloblastoma(188;0.0075)|all_neural(188;0.0572)|Breast(177;0.0675) Epithelial(150;3.46e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135) TTTTGTGGCTCCATGCTGGTG 0.502000 12 13 0 0 0.00136819 0 0 MGAT3 4248 broad.mit.edu 37 22 39884365 39884365 + Missense_Mutation SNP A C C TCGA-EE-A3AC-06A-11D-A196-08 TCGA-EE-A3AC-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 883d623b-c427-4444-9ee3-66d18648130f f8f00311-8db5-4187-bcb8-5054d9fbdac3 g.chr22:39884365A>C uc003axv.4 + 1 1252 c.1013A>C c.(1012-1014)gAg>gCg p.E338A MGAT3_uc010gxy.3_Missense_Mutation_p.E338A NM_002409 NP_002400 Q09327 MGAT3_HUMAN Homo sapiens mannosyl (beta-1,4-)-glycoprotein beta-1,4-N-acetylglucosaminyltransferase (MGAT3), transcript variant 1, mRNA. 338 post-translational protein modification|protein N-linked glycosylation via asparagine Golgi membrane|integral to membrane beta-1,4-mannosylglycoprotein 4-beta-N-acetylglucosaminyltransferase activity endometrium(4)|kidney(1)|large_intestine(5)|lung(12)|prostate(1)|skin(1) 24 Melanoma(58;0.04) GGCTGGACCGAGCCCTTCGCC 0.632000 61 52 0 0 0.000781405 0 0 TNIP1 10318 broad.mit.edu 37 5 150413312 150413312 + Missense_Mutation SNP C G G rs144751861 TCGA-EE-A3AC-06A-11D-A196-08 TCGA-EE-A3AC-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 883d623b-c427-4444-9ee3-66d18648130f f8f00311-8db5-4187-bcb8-5054d9fbdac3 g.chr5:150413312C>G uc003lti.3 - 15 1877 c.1636G>C c.(1636-1638)Ggg>Cgg p.G546R TNIP1_uc011dcn.2_Missense_Mutation_p.G64R|TNIP1_uc010jhq.2_Intron|TNIP1_uc010jho.2_Intron|TNIP1_uc010jhp.2_Intron|TNIP1_uc010jhl.3_Intron|TNIP1_uc010jhn.3_Intron|TNIP1_uc010jhm.3_Intron|TNIP1_uc010jhr.2_Missense_Mutation_p.G546R|TNIP1_uc011dco.2_Missense_Mutation_p.G546R|TNIP1_uc003ltg.3_Missense_Mutation_p.G493R|TNIP1_uc003ltk.3_Missense_Mutation_p.G546R|TNIP1_uc003ltj.3_Missense_Mutation_p.G546R|TNIP1_uc021ygb.1_Missense_Mutation_p.G546R NM_006058 NP_006049 Q15025 TNIP1_HUMAN Homo sapiens TNFAIP3 interacting protein 1 (TNIP1), transcript variant 5, mRNA. 546 Pro-rich. defense response|glycoprotein biosynthetic process|negative regulation of viral genome replication|translation cytoplasm|nucleus protein binding NS(1)|breast(2)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|liver(1)|lung(5)|ovary(2)|prostate(2)|skin(3) 23 Medulloblastoma(196;0.0911)|all_hematologic(541;0.207) KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101) GGGTAGGCCCCGCAGAGATGT 0.632000 70 5 0 0 0.000602214 0 0 MDN1 23195 broad.mit.edu 37 6 90409393 90409393 + Missense_Mutation SNP G A A TCGA-EE-A3AC-06A-11D-A196-08 TCGA-EE-A3AC-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 883d623b-c427-4444-9ee3-66d18648130f f8f00311-8db5-4187-bcb8-5054d9fbdac3 g.chr6:90409393G>A uc003pnn.1 - 57 9040 c.8924C>T c.(8923-8925)tCa>tTa p.S2975L NM_014611 NP_055426 Q9NU22 MDN1_HUMAN Homo sapiens MDN1, midasin homolog (yeast) (MDN1), mRNA. 2975 protein complex assembly|regulation of protein complex assembly nucleus ATP binding|ATPase activity|unfolded protein binding NS(1)|breast(13)|central_nervous_system(2)|cervix(3)|endometrium(22)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(52)|liver(1)|lung(83)|ovary(10)|pancreas(1)|prostate(10)|skin(6)|stomach(3)|upper_aerodigestive_tract(3)|urinary_tract(2) 218 all_cancers(76;1.47e-06)|Acute lymphoblastic leukemia(125;2.23e-10)|Prostate(29;5.55e-10)|all_hematologic(105;2.42e-06)|all_epithelial(107;0.00246) BRCA - Breast invasive adenocarcinoma(108;0.0193) AAGACAAAATGAGATGAGGTG 0.413000 11 35 0 0 0.000692331 0 0 CCDC147 159686 broad.mit.edu 37 10 106153215 106153215 + Silent SNP G A A TCGA-EE-A3AC-06A-11D-A196-08 TCGA-EE-A3AC-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 883d623b-c427-4444-9ee3-66d18648130f f8f00311-8db5-4187-bcb8-5054d9fbdac3 g.chr10:106153215G>A uc001kyh.3 + 10 1790 c.1656G>A c.(1654-1656)aaG>aaA p.K552K NM_001008723 NP_001008723 Q5T655 CC147_HUMAN Homo sapiens coiled-coil domain containing 147 (CCDC147), mRNA. 552 NS(1)|breast(1)|central_nervous_system(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(16)|ovary(3)|pancreas(1)|prostate(3)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(2) 52 Colorectal(252;0.103)|Breast(234;0.122) Epithelial(162;7.55e-10)|all cancers(201;3.37e-08)|BRCA - Breast invasive adenocarcinoma(275;0.0189) GAATAGAAAAGGAAAAGGAAA 0.473000 10 10 0 0 0.000673444 0 0 GRIP1 23426 broad.mit.edu 37 12 66838422 66838422 + Silent SNP G A A TCGA-EE-A3AC-06A-11D-A196-08 TCGA-EE-A3AC-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 883d623b-c427-4444-9ee3-66d18648130f f8f00311-8db5-4187-bcb8-5054d9fbdac3 g.chr12:66838422G>A uc001stk.3 - 11 1714 c.1473C>T c.(1471-1473)ctC>ctT p.L491L GRIP1_uc010sta.1_Silent_p.L435L|GRIP1_uc001stj.3_Silent_p.L273L|GRIP1_uc001stm.3_Silent_p.L491L|GRIP1_uc001stl.1_Silent_p.L383L NM_021150 NP_066973 Q9Y3R0 GRIP1_HUMAN Homo sapiens glutamate receptor interacting protein 1 (GRIP1), transcript variant 1, mRNA. 543 PDZ 4. androgen receptor signaling pathway|intracellular signal transduction|positive regulation of transcription, DNA-dependent|synaptic transmission cell junction|cytoplasmic membrane-bounded vesicle|cytosol|endoplasmic reticulum|postsynaptic membrane androgen receptor binding|beta-catenin binding|protein C-terminus binding|receptor signaling complex scaffold activity|transcription coactivator activity NS(3)|breast(2)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(10)|lung(19)|ovary(2)|prostate(2)|skin(1) 50 GBM - Glioblastoma multiforme(2;0.00069) GBM - Glioblastoma multiforme(28;0.0933) AGTCTCGGAGGAGCTGACTGG 0.458000 51 43 0 0 0.000781405 0 0 FBXO7 25793 broad.mit.edu 37 22 32894465 32894465 + Missense_Mutation SNP C T T TCGA-EE-A3AC-06A-11D-A196-08 TCGA-EE-A3AC-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 883d623b-c427-4444-9ee3-66d18648130f f8f00311-8db5-4187-bcb8-5054d9fbdac3 g.chr22:32894465C>T uc003amq.3 + 8 1800 c.1517C>T c.(1516-1518)cCc>cTc p.P506L FBXO7_uc003amt.3_Missense_Mutation_p.P427L|FBXO7_uc003amu.3_Missense_Mutation_p.P392L|FBXO7_uc003amv.3_Missense_Mutation_p.P205L NM_012179 NP_036311 Q9Y3I1 FBX7_HUMAN Homo sapiens F-box protein 7 (FBXO7), transcript variant 1, mRNA. 506 cell death|regulation of protein stability|ubiquitin-dependent protein catabolic process ubiquitin ligase complex protein binding|ubiquitin-protein ligase activity p.P506S(1) breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(3)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 19 GACAGATTTCCCTTTAGACCC 0.507000 13 14 0 0 0.00185496 0 0 USP26 83844 broad.mit.edu 37 X 132161704 132161704 + Missense_Mutation SNP C T T TCGA-EE-A3AC-06A-11D-A196-08 TCGA-EE-A3AC-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 883d623b-c427-4444-9ee3-66d18648130f f8f00311-8db5-4187-bcb8-5054d9fbdac3 g.chrX:132161704C>T uc011mvf.2 - 0 597 c.545G>A c.(544-546)aGa>aAa p.R182K USP26_uc010nrm.1_Missense_Mutation_p.R182K NM_031907 NP_114113 Q9BXU7 UBP26_HUMAN Homo sapiens ubiquitin specific peptidase 26 (USP26), mRNA. 182 protein deubiquitination|ubiquitin-dependent protein catabolic process nucleus cysteine-type peptidase activity|protein binding|ubiquitin thiolesterase activity breast(3)|central_nervous_system(3)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(11)|liver(2)|lung(18)|ovary(1)|prostate(2)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(3) 60 Acute lymphoblastic leukemia(192;0.000127) TGAGAGCATTCTTTTCCTCTT 0.403000 3 22 0 0 0.000720815 0 0 abParts 0 broad.mit.edu 37 14 107066207 107066207 + Splice_Site SNP G A A TCGA-EE-A3AC-06A-11D-A196-08 TCGA-EE-A3AC-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 883d623b-c427-4444-9ee3-66d18648130f f8f00311-8db5-4187-bcb8-5054d9fbdac3 g.chr14:107066207G>A uc021ser.1 - 145 c.6383_splice c.e145-1 Parts of antibodies, mostly variable regions. TCCAGTCCATGGTGAGGAGCT 0.547000 15 6 0 0 0.00116845 0 0 GGT5 2687 broad.mit.edu 37 22 24621549 24621549 + Missense_Mutation SNP C T T TCGA-EE-A3AC-06A-11D-A196-08 TCGA-EE-A3AC-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 883d623b-c427-4444-9ee3-66d18648130f f8f00311-8db5-4187-bcb8-5054d9fbdac3 g.chr22:24621549C>T uc002zzp.4 - 8 1718 c.1301G>A c.(1300-1302)cGa>cAa p.R434Q GGT5_uc002zzo.4_Missense_Mutation_p.R434Q|GGT5_uc002zzr.4_Missense_Mutation_p.R402Q|GGT5_uc002zzq.4_Missense_Mutation_p.R402Q|GGT5_uc011ajm.2_Missense_Mutation_p.R357Q NM_001099781 NP_001093251 P36269 GGT5_HUMAN Homo sapiens gamma-glutamyltransferase 5 (GGT5), transcript variant 1, mRNA. 434 glutathione biosynthetic process|hormone biosynthetic process|leukotriene biosynthetic process|prostanoid metabolic process integral to membrane|plasma membrane acyltransferase activity|gamma-glutamyltransferase activity breast(1)|endometrium(2)|kidney(2)|large_intestine(4)|lung(11)|ovary(2)|prostate(3)|skin(3) 28 CCGGGGGCATCGCTCGCATAA 0.647000 17 13 0 0 0.00074312 0 0 LHX3 8022 broad.mit.edu 37 9 139089572 139089572 + Missense_Mutation SNP C T T TCGA-EE-A3AC-06A-11D-A196-08 TCGA-EE-A3AC-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 883d623b-c427-4444-9ee3-66d18648130f f8f00311-8db5-4187-bcb8-5054d9fbdac3 g.chr9:139089572C>T uc004cgz.3 - 5 927 c.808G>A c.(808-810)Gaa>Aaa p.E270K LHX3_uc022bpm.1_3'UTR|LHX3_uc004cha.3_Missense_Mutation_p.E265K NM_014564 NP_055379 Q9UBR4 LHX3_HUMAN Homo sapiens LIM homeobox 3 (LHX3), transcript variant 2, mRNA. 265 inner ear development|organ morphogenesis|positive regulation of transcription, DNA-dependent nucleus sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding large_intestine(2)|lung(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(1) 8 Myeloproliferative disorder(178;0.0511) Epithelial(140;8.43e-08)|OV - Ovarian serous cystadenocarcinoma(145;1.26e-07) GGGCCCATTTCCGCCAAGGAA 0.682000 10 5 0 0 0.00198382 0 0 MLL2 8085 broad.mit.edu 37 19 36218862 36218863 + Nonsense_Mutation DNP CC TT TT TCGA-EE-A3AC-06A-11D-A196-08 TCGA-EE-A3AC-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 883d623b-c427-4444-9ee3-66d18648130f f8f00311-8db5-4187-bcb8-5054d9fbdac3 g.chr19:36218862_36218863CC>TT uc021usv.1 + 17 4473_4474 c.4473_4474CC>TT c.(4471-4476)ggccag>ggTTag p.Q1492* MLL2_uc021usu.1_Nonsense_Mutation_p.Q306* NM_014727 NP_055542 O14686 MLL2_HUMAN Homo sapiens myeloid/lymphoid or mixed-lineage leukemia 4 (MLL4), mRNA. 0 Cys-rich. chromatin silencing|histone H3-K4 methylation|oocyte growth|positive regulation of cell proliferation|positive regulation of estrogen receptor signaling pathway|positive regulation of transcription from RNA polymerase II promoter|response to estrogen stimulus|transcription, DNA-dependent histone methyltransferase complex histone-lysine N-methyltransferase activity|protein binding|transcription regulatory region DNA binding|zinc ion binding NS(1)|breast(4)|central_nervous_system(38)|cervix(3)|endometrium(22)|haematopoietic_and_lymphoid_tissue(121)|kidney(35)|large_intestine(22)|lung(78)|ovary(3)|pancreas(2)|prostate(13)|skin(7)|stomach(3)|upper_aerodigestive_tract(9)|urinary_tract(5) 366 GGGCTGGAGGCCAGATGAAGGG 0.644000 """N, F, Mis""" """medulloblastoma, renal""" HNSCC(34;0.089) 2 7 0 0 6.4e-05 0 0 INTS4 92105 broad.mit.edu 37 11 77672163 77672163 + Missense_Mutation SNP C A A TCGA-EE-A3AC-06A-11D-A196-08 TCGA-EE-A3AC-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 883d623b-c427-4444-9ee3-66d18648130f f8f00311-8db5-4187-bcb8-5054d9fbdac3 g.chr11:77672163C>A uc001oys.3 - 4 521 c.493G>T c.(493-495)Ggt>Tgt p.G165C INTS4_uc001oyt.3_Non-coding_Transcript|INTS4_uc001oyu.1_Missense_Mutation_p.G165C NM_033547 NP_291025 Q96HW7 INT4_HUMAN Homo sapiens integrator complex subunit 4 (INTS4), mRNA. 165 snRNA processing integrator complex protein binding INTS4/GAB2(2) NS(2)|cervix(3)|endometrium(3)|kidney(3)|large_intestine(4)|lung(9)|ovary(2)|prostate(5)|upper_aerodigestive_tract(1) 32 all_cancers(14;4.53e-19)|all_epithelial(13;1.73e-21)|Breast(9;2.71e-16)|Ovarian(111;0.152) Epithelial(5;1.13e-46)|all cancers(3;8.92e-44)|BRCA - Breast invasive adenocarcinoma(5;8.4e-26)|OV - Ovarian serous cystadenocarcinoma(8;1.05e-23) TTTCTTACACCATGAGACGTA 0.348000 101 7 0.00198382 0.00892858 0.00198382 1 0 TTC18 118491 broad.mit.edu 37 10 75082781 75082781 + Silent SNP C T T TCGA-EE-A3AC-06A-11D-A196-08 TCGA-EE-A3AC-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 883d623b-c427-4444-9ee3-66d18648130f f8f00311-8db5-4187-bcb8-5054d9fbdac3 g.chr10:75082781C>T uc009xrc.3 - 9 1183 c.1062G>A c.(1060-1062)gtG>gtA p.V354V TTC18_uc001jty.3_Silent_p.V354V|TTC18_uc009xrd.1_Silent_p.V162V NM_145170 NP_660153 Q5T0N1 TTC18_HUMAN Homo sapiens tetratricopeptide repeat domain 18 (TTC18), mRNA. 354 binding breast(1)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(6)|lung(13)|ovary(2)|prostate(2)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(1) 34 Prostate(51;0.0119) GAATTCTCTTCACACCTGGAT 0.373000 45 26 0 0 0.00127121 0 0 ZNF501 115560 broad.mit.edu 37 3 44776471 44776471 + Silent SNP A T T TCGA-EE-A3AC-06A-11D-A196-08 TCGA-EE-A3AC-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 883d623b-c427-4444-9ee3-66d18648130f f8f00311-8db5-4187-bcb8-5054d9fbdac3 g.chr3:44776471A>T uc003cnu.1 + 2 959 c.558A>T c.(556-558)ggA>ggT p.G186G ZNF501_uc021wwq.1_Silent_p.G186G NM_145044 NP_659481 Q96CX3 ZN501_HUMAN Homo sapiens zinc finger protein 501 (ZNF501), mRNA. 186 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding breast(1)|endometrium(2)|large_intestine(4)|lung(3)|prostate(1) 11 BRCA - Breast invasive adenocarcinoma(193;0.00843)|KIRC - Kidney renal clear cell carcinoma(197;0.0463)|Kidney(197;0.0579) TTCATTCAGGAGAGAAGCCCT 0.408000 27 19 0 0 0.000958276 0 0 IFNW1 3467 broad.mit.edu 37 9 21141139 21141139 + Missense_Mutation SNP C T T TCGA-EE-A3AC-06A-11D-A196-08 TCGA-EE-A3AC-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 883d623b-c427-4444-9ee3-66d18648130f f8f00311-8db5-4187-bcb8-5054d9fbdac3 g.chr9:21141139C>T uc003zol.1 - 0 1006 c.431G>A c.(430-432)aGg>aAg p.R144K NM_002177 NP_002168 P05000 IFNW1_HUMAN Homo sapiens interferon, omega 1 (IFNW1), mRNA. 144 cell cycle arrest|defense response|response to virus extracellular space cytokine activity|cytokine receptor binding endometrium(1)|kidney(1)|lung(2)|ovary(1) 5 GBM - Glioblastoma multiforme(5;2.35e-185)|Lung(24;2.24e-22)|LUSC - Lung squamous cell carcinoma(38;1.4e-13) GAAGTACCTCCTCAAGGTCAG 0.498000 27 14 0 0 0.000219431 0 0 PHF6 84295 broad.mit.edu 37 X 133551252 133551252 + Silent SNP C T T TCGA-EE-A3AC-06A-11D-A196-08 TCGA-EE-A3AC-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 883d623b-c427-4444-9ee3-66d18648130f f8f00311-8db5-4187-bcb8-5054d9fbdac3 g.chrX:133551252C>T uc004exj.3 + 8 1090 c.888C>T c.(886-888)gcC>gcT p.A296A PHF6_uc004exk.3_Silent_p.A296A|PHF6_uc011mvk.2_Silent_p.A262A|PHF6_uc004exi.3_Silent_p.A297A NM_001015877 NP_115834 Q8IWS0 PHF6_HUMAN Homo sapiens PHD finger protein 6 (PHF6), transcript variant 1, mRNA. 296 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleolus zinc ion binding cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(88)|kidney(2)|large_intestine(1)|liver(1)|lung(6)|ovary(1)|skin(1)|urinary_tract(1) 103 Acute lymphoblastic leukemia(192;0.000127) AAATAAAAGCCTGTGTTAAGA 0.353000 """F, N, Splice, Mis""" ETP ALL 10 37 0 0 0.00128727 0 0 DHRSX 207063 broad.mit.edu 37 X 2184888 2184888 + Missense_Mutation SNP C A A TCGA-EE-A3AC-06A-11D-A196-08 TCGA-EE-A3AC-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 883d623b-c427-4444-9ee3-66d18648130f f8f00311-8db5-4187-bcb8-5054d9fbdac3 g.chrX:2184888C>A uc004cqf.4 - 4 538 c.489G>T c.(487-489)ttG>ttT p.L163F NM_145177 NP_660160 Q8N5I4 DHRSX_HUMAN Homo sapiens dehydrogenase/reductase (SDR family) X-linked (DHRSX), mRNA. 163 binding|oxidoreductase activity endometrium(1)|kidney(1)|large_intestine(2)|lung(10)|ovary(1)|pancreas(1) 16 all_cancers(21;9e-05)|all_epithelial(21;6.22e-06)|all_lung(23;0.000597)|Lung NSC(23;0.00901)|Lung SC(21;0.186) TCAGCGTATCCAAGAGAAGGT 0.552000 201 10 0.000442599 0.00201478 0.000442599 1 0 AKAP4 8852 broad.mit.edu 37 X 49958662 49958662 + Silent SNP C T T TCGA-EE-A3AC-06A-11D-A196-08 TCGA-EE-A3AC-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 883d623b-c427-4444-9ee3-66d18648130f f8f00311-8db5-4187-bcb8-5054d9fbdac3 g.chrX:49958662C>T uc004dow.1 - 4 826 c.702G>A c.(700-702)aaG>aaA p.K234K AKAP4_uc004dou.1_Silent_p.K225K|AKAP4_uc004dov.1_Intron|AKAP4_uc010njp.1_Silent_p.K56K NM_003886 NP_647450 Q5JQC9 AKAP4_HUMAN Homo sapiens A kinase (PRKA) anchor protein 4 (AKAP4), transcript variant 1, mRNA. 234 cell projection organization|single fertilization|sperm motility cAMP-dependent protein kinase complex|cilium|cytoskeleton|microtubule-based flagellum protein kinase A binding NS(2)|breast(3)|central_nervous_system(2)|cervix(1)|endometrium(2)|kidney(6)|large_intestine(6)|lung(14)|ovary(1)|skin(4) 41 Ovarian(276;0.236) CCTTGATTTCCTTATGGGCCA 0.458000 8 22 0 0 0.000375601 0 0 SH3TC1 54436 broad.mit.edu 37 4 8242471 8242471 + Missense_Mutation SNP C T T TCGA-EE-A3AC-06A-11D-A196-08 TCGA-EE-A3AC-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 883d623b-c427-4444-9ee3-66d18648130f f8f00311-8db5-4187-bcb8-5054d9fbdac3 g.chr4:8242471C>T uc003gkv.4 + 17 3901 c.3800C>T c.(3799-3801)gCc>gTc p.A1267V SH3TC1_uc003gkw.4_Missense_Mutation_p.A1191V|SH3TC1_uc003gkx.4_Non-coding_Transcript|SH3TC1_uc003gky.3_Non-coding_Transcript NM_018986 NP_061859 Q8TE82 S3TC1_HUMAN Homo sapiens SH3 domain and tetratricopeptide repeats 1 (SH3TC1), mRNA. 1267 binding NS(1)|breast(3)|endometrium(4)|kidney(4)|large_intestine(6)|lung(10)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2) 33 CTGGCAGCCGCCGTGGACCTG 0.612000 32 31 0 0 0.00209593 0 0 MPP3 4356 broad.mit.edu 37 17 41898295 41898295 + Silent SNP C T T TCGA-EE-A3AC-06A-11D-A196-08 TCGA-EE-A3AC-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 883d623b-c427-4444-9ee3-66d18648130f f8f00311-8db5-4187-bcb8-5054d9fbdac3 g.chr17:41898295C>T uc002ieh.3 - 8 1152 c.891G>A c.(889-891)caG>caA p.Q297Q MPP3_uc002iei.4_Silent_p.Q272Q|MPP3_uc002iej.3_Non-coding_Transcript|MPP3_uc010czi.2_Silent_p.Q272Q|MPP3_uc010wik.2_Silent_p.Q297Q NM_001932 NP_001923 Q13368 MPP3_HUMAN Homo sapiens membrane protein, palmitoylated 3 (MAGUK p55 subfamily member 3) (MPP3), transcript variant 1, mRNA. 272 signal transduction cell surface|integral to plasma membrane guanylate kinase activity endometrium(2)|kidney(2)|large_intestine(5)|lung(11)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(2) 26 Breast(137;0.00394) BRCA - Breast invasive adenocarcinoma(366;0.119) CTCGCTTGGCCTGCCACCACG 0.677000 23 12 0 0 0.000978159 0 0 PCDHGC5 56097 broad.mit.edu 37 5 140773672 140773672 + Missense_Mutation SNP C T T TCGA-EE-A3AC-06A-11D-A196-08 TCGA-EE-A3AC-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 883d623b-c427-4444-9ee3-66d18648130f f8f00311-8db5-4187-bcb8-5054d9fbdac3 g.chr5:140773672C>T uc003lkd.2 + 0 2190 c.1292C>T c.(1291-1293)cCt>cTt p.P431L PCDHGC5_uc003lji.2_Intron|PCDHGC5_uc003ljk.2_Intron|PCDHGC5_uc003ljm.2_Intron|PCDHGC5_uc003ljo.2_Intron|PCDHGC5_uc003ljq.2_Intron|PCDHGC5_uc003ljs.2_Intron|PCDHGC5_uc003lju.2_Intron|PCDHGC5_uc003ljw.2_Intron|PCDHGC5_uc003ljy.2_Intron|PCDHGC5_uc003lka.2_Intron|PCDHGC5_uc003lkb.4_Missense_Mutation_p.P431L|PCDHGC5_uc003lkc.2_Intron NM_032088 NP_114477 Q9Y5F6 PCDGM_HUMAN Homo sapiens protocadherin gamma subfamily A, 8 (PCDHGA8), transcript variant 1, mRNA. 433 Cadherin 4. homophilic cell adhesion integral to membrane|plasma membrane calcium ion binding breast(2)|central_nervous_system(2)|endometrium(6)|kidney(4)|large_intestine(4)|lung(10)|ovary(4)|prostate(1)|urinary_tract(2) 35 KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191) GGAACACCACCTCTGTCCACT 0.428000 18 11 0 0 0.00136819 0 0 PCDHGC5 56097 broad.mit.edu 37 5 140740020 140740020 + Silent SNP C T T TCGA-EE-A3AC-06A-11D-A196-08 TCGA-EE-A3AC-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 883d623b-c427-4444-9ee3-66d18648130f f8f00311-8db5-4187-bcb8-5054d9fbdac3 g.chr5:140740020C>T uc003ljs.2 + 0 318 c.318C>T c.(316-318)ttC>ttT p.F106F PCDHGC5_uc003lji.2_Intron|PCDHGC5_uc003ljk.2_Intron|PCDHGC5_uc003ljm.2_Intron|PCDHGC5_uc003ljo.2_Intron|PCDHGC5_uc003ljq.2_Intron|PCDHGC5_uc011dar.2_Silent_p.F106F NM_018923 NP_061746 Q9Y5F6 PCDGM_HUMAN Homo sapiens protocadherin gamma subfamily B, 2 (PCDHGB2), transcript variant 1, mRNA. 106 Cadherin 1. homophilic cell adhesion integral to membrane|plasma membrane calcium ion binding p.F106F(2) breast(2)|central_nervous_system(2)|endometrium(6)|kidney(4)|large_intestine(4)|lung(10)|ovary(4)|prostate(1)|urinary_tract(2) 35 KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191) TTCTGGATTTCGATACTGTCG 0.383000 71 39 0 0 0.00148497 0 0 SIPA1L1 26037 broad.mit.edu 37 14 72055757 72055757 + Missense_Mutation SNP G A A TCGA-EE-A3AC-06A-11D-A196-08 TCGA-EE-A3AC-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 883d623b-c427-4444-9ee3-66d18648130f f8f00311-8db5-4187-bcb8-5054d9fbdac3 g.chr14:72055757G>A uc001xms.3 + 1 1529 c.1168G>A c.(1168-1170)Gag>Aag p.E390K SIPA1L1_uc001xmt.3_Missense_Mutation_p.E390K|SIPA1L1_uc001xmu.3_Missense_Mutation_p.E390K|SIPA1L1_uc001xmv.3_Missense_Mutation_p.E390K NM_015556 NP_056371 O43166 SI1L1_HUMAN Homo sapiens signal-induced proliferation-associated 1 like 1 (SIPA1L1), mRNA. 390 actin cytoskeleton reorganization|activation of Rap GTPase activity|regulation of dendritic spine morphogenesis cell junction|cytoplasm|dendritic spine|postsynaptic density|postsynaptic membrane|synaptosome GTPase activator activity p.E390E(1) NS(1)|breast(4)|central_nervous_system(1)|cervix(1)|endometrium(11)|kidney(1)|large_intestine(22)|liver(2)|lung(25)|ovary(3)|prostate(3)|skin(3)|stomach(1) 78 all cancers(60;0.00169)|BRCA - Breast invasive adenocarcinoma(234;0.00912)|OV - Ovarian serous cystadenocarcinoma(108;0.0109) GGGCAGCACAGAGGACCTGAA 0.512000 28 18 0 0 0.000958276 0 0 SEC24D 9871 broad.mit.edu 37 4 119727032 119727032 + Silent SNP G T T TCGA-EE-A3AC-06A-11D-A196-08 TCGA-EE-A3AC-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 883d623b-c427-4444-9ee3-66d18648130f f8f00311-8db5-4187-bcb8-5054d9fbdac3 g.chr4:119727032G>T uc003ici.4 - 6 1151 c.879C>A c.(877-879)ccC>ccA p.P293P SEC24D_uc003icj.4_Silent_p.P294P|SEC24D_uc003icl.2_Non-coding_Transcript|SEC24D_uc010imz.1_Non-coding_Transcript|SEC24D_uc011cgg.1_Non-coding_Transcript NM_014822 NP_055637 O94855 SC24D_HUMAN Homo sapiens SEC24 family, member D (S. cerevisiae) (SEC24D), mRNA. 293 Pro-rich. COPII vesicle coating|intracellular protein transport|post-translational protein modification|protein N-linked glycosylation via asparagine COPII vesicle coat|Golgi membrane|cytosol|endoplasmic reticulum membrane|perinuclear region of cytoplasm zinc ion binding breast(3)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(10)|lung(13)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1) 37 TAGTGACCAGGGGAGGGATCT 0.393000 84 6 0.00198382 0.00892858 0.00198382 1 0 GUCY1A2 2977 broad.mit.edu 37 11 106810351 106810351 + Silent SNP C T T TCGA-EE-A3AC-06A-11D-A196-08 TCGA-EE-A3AC-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 883d623b-c427-4444-9ee3-66d18648130f f8f00311-8db5-4187-bcb8-5054d9fbdac3 g.chr11:106810351C>T uc009yxn.1 - 3 1431 c.1041G>A c.(1039-1041)agG>agA p.R347R GUCY1A2_uc001pjg.1_Silent_p.R347R|GUCY1A2_uc010rvo.1_Silent_p.R347R NM_000855 NP_000846 P33402 GCYA2_HUMAN Homo sapiens guanylate cyclase 1, soluble, alpha 2 (GUCY1A2), transcript variant 2, mRNA. 347 intracellular signal transduction|platelet activation cytoplasm GTP binding|guanylate cyclase activity|heme binding p.L346L(1) breast(5)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(18)|liver(1)|lung(32)|ovary(1)|pancreas(2)|prostate(4)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(3) 74 all_epithelial(67;3.66e-05)|Melanoma(852;0.000382)|Acute lymphoblastic leukemia(157;0.001)|all_hematologic(158;0.0017)|Breast(348;0.026)|all_neural(303;0.068) BRCA - Breast invasive adenocarcinoma(274;8.04e-05)|Epithelial(105;0.0036)|all cancers(92;0.0476) GAAGCTGCTTCCTTAGACCTT 0.483000 15 10 0 0 0.000442599 0 0 PCDHGC5 56097 broad.mit.edu 37 5 140746222 140746222 + Silent SNP C T T TCGA-EE-A3AC-06A-11D-A196-08 TCGA-EE-A3AC-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 883d623b-c427-4444-9ee3-66d18648130f f8f00311-8db5-4187-bcb8-5054d9fbdac3 g.chr5:140746222C>T uc003lju.2 + 0 2325 c.2325C>T c.(2323-2325)taC>taT p.Y775Y PCDHGC5_uc003lji.2_Intron|PCDHGC5_uc003ljk.2_Intron|PCDHGC5_uc003ljm.2_Intron|PCDHGC5_uc003ljo.2_Intron|PCDHGC5_uc003ljq.2_Intron|PCDHGC5_uc003ljs.2_Intron|PCDHGC5_uc011das.2_Silent_p.Y775Y NM_018918 NP_061741 Q9Y5F6 PCDGM_HUMAN Homo sapiens protocadherin gamma subfamily A, 5 (PCDHGA5), transcript variant 1, mRNA. 784 homophilic cell adhesion integral to membrane|plasma membrane calcium ion binding breast(2)|central_nervous_system(2)|endometrium(6)|kidney(4)|large_intestine(4)|lung(10)|ovary(4)|prostate(1)|urinary_tract(2) 35 KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191) AGCCCAACTACGCAGACACGC 0.537000 98 56 0 0 0.000781405 0 0 PCDHAC2 56134 broad.mit.edu 37 5 140248955 140248955 + Silent SNP G A A TCGA-EE-A3AC-06A-11D-A196-08 TCGA-EE-A3AC-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 883d623b-c427-4444-9ee3-66d18648130f f8f00311-8db5-4187-bcb8-5054d9fbdac3 g.chr5:140248955G>A uc003lia.2 + 0 1125 c.267G>A c.(265-267)cgG>cgA p.R89R PCDHAC2_uc003lha.2_Intron|PCDHAC2_uc003lhb.2_Intron|PCDHAC2_uc003lhd.2_Intron|PCDHAC2_uc003lhf.2_Intron|PCDHAC2_uc003lhh.1_Intron|PCDHAC2_uc003lhi.2_Intron|PCDHAC2_uc003lhl.2_Intron|PCDHAC2_uc003lhk.1_Intron|PCDHAC2_uc003lho.2_Intron|PCDHAC2_uc003lhn.2_Intron|PCDHAC2_uc003lhq.2_Intron|PCDHAC2_uc003lhs.2_Intron|PCDHAC2_uc003lhu.2_Intron|PCDHAC2_uc003lhw.2_Intron|PCDHAC2_uc003lhx.2_Intron|PCDHAC2_uc011dae.2_Silent_p.R89R NM_018902 NP_061725 Q9Y5I4 PCDC2_HUMAN Homo sapiens protocadherin alpha 11 (PCDHA11), transcript variant 1, mRNA. 104 Cadherin 1. homophilic cell adhesion|nervous system development integral to plasma membrane calcium ion binding NS(1)|breast(1)|endometrium(4)|kidney(4)|large_intestine(10)|liver(2)|lung(9)|ovary(2)|prostate(1)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(1) 45 KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191) TGAATTCTCGGATCGACCGCG 0.592000 148 95 0 0 0.000781405 0 0 SCEL 8796 broad.mit.edu 37 13 78183195 78183195 + Missense_Mutation SNP C T T TCGA-EE-A3AC-06A-11D-A196-08 TCGA-EE-A3AC-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 883d623b-c427-4444-9ee3-66d18648130f f8f00311-8db5-4187-bcb8-5054d9fbdac3 g.chr13:78183195C>T uc001vki.3 + 20 1390 c.1220C>T c.(1219-1221)tCc>tTc p.S407F SCEL_uc010thx.2_Missense_Mutation_p.S365F|SCEL_uc001vkj.3_Missense_Mutation_p.S387F NM_144777 NP_659001 O95171 SCEL_HUMAN Homo sapiens sciellin (SCEL), transcript variant 1, mRNA. 407 16 X approximate tandem repeats. embryo development|keratinocyte differentiation cornified envelope|cytoplasm|membrane protein binding|zinc ion binding breast(1)|central_nervous_system(1)|cervix(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(18)|ovary(5)|prostate(1)|stomach(1)|urinary_tract(1) 40 Acute lymphoblastic leukemia(28;0.0282)|Breast(118;0.037) GBM - Glioblastoma multiforme(99;0.0233) GTTTGAAGTTCCAAAGACCTT 0.269000 24 16 0 0 0.000566183 0 0 PAK7 57144 broad.mit.edu 37 20 9525085 9525085 + Silent SNP C T T TCGA-EE-A3AC-06A-11D-A196-08 TCGA-EE-A3AC-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 883d623b-c427-4444-9ee3-66d18648130f f8f00311-8db5-4187-bcb8-5054d9fbdac3 g.chr20:9525085C>T uc002wnl.2 - 8 2345 c.1800G>A c.(1798-1800)agG>agA p.R600R PAK7_uc002wnk.2_Silent_p.R600R|PAK7_uc002wnj.2_Silent_p.R600R|PAK7_uc010gby.1_Intron NM_020341 NP_817127 Q9P286 PAK7_HUMAN Homo sapiens p21 protein (Cdc42/Rac)-activated kinase 7 (PAK7), transcript variant 1, mRNA. 600 Protein kinase. ATP binding|protein binding|protein serine/threonine kinase activity NS(1)|central_nervous_system(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|lung(44)|ovary(2)|skin(13)|stomach(1)|upper_aerodigestive_tract(3) 81 COAD - Colon adenocarcinoma(9;0.194) CCAATGATTTCCTCTTCGGCA 0.453000 43 42 0 0 0.00222228 0 0 CSMD2 114784 broad.mit.edu 37 1 34286138 34286138 + Silent SNP G A A TCGA-EE-A3AC-06A-11D-A196-08 TCGA-EE-A3AC-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 883d623b-c427-4444-9ee3-66d18648130f f8f00311-8db5-4187-bcb8-5054d9fbdac3 g.chr1:34286138G>A uc001bxm.1 - 7 1308 c.1131C>T c.(1129-1131)tcC>tcT p.S377S CSMD2_uc001bxn.1_Silent_p.S337S NM_052896 NP_443128 Q7Z408 CSMD2_HUMAN Homo sapiens CUB and Sushi multiple domains 2 (CSMD2), mRNA. 337 Sushi 2. integral to membrane|plasma membrane protein binding NS(5)|breast(5)|central_nervous_system(3)|cervix(2)|endometrium(20)|haematopoietic_and_lymphoid_tissue(4)|kidney(9)|large_intestine(43)|lung(114)|ovary(8)|pancreas(1)|prostate(6)|skin(20)|upper_aerodigestive_tract(5)|urinary_tract(1) 246 Myeloproliferative disorder(586;0.0294)|all_neural(195;0.249) TATGTCCTTGGGACACACCAA 0.438000 71 56 0 0 0.000781405 0 0 EMB 133418 broad.mit.edu 37 5 49699072 49699072 + Missense_Mutation SNP G A A TCGA-EE-A3AC-06A-11D-A196-08 TCGA-EE-A3AC-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 883d623b-c427-4444-9ee3-66d18648130f f8f00311-8db5-4187-bcb8-5054d9fbdac3 g.chr5:49699072G>A uc003jom.3 - 5 1066 c.817C>T c.(817-819)Ctt>Ttt p.L273F EMB_uc010ivq.3_Missense_Mutation_p.L67F|EMB_uc003jol.3_Missense_Mutation_p.L204F|EMB_uc011cpy.2_Missense_Mutation_p.L223F NM_198449 NP_940851 Q6PCB8 EMB_HUMAN Homo sapiens embigin (EMB), mRNA. 273 integral to membrane breast(2)|endometrium(3)|large_intestine(4)|lung(4)|skin(2) 15 Lung SC(58;0.218) Lung NSC(810;0.0795) GCCACTAAAAGAATCACCTCA 0.383000 13 12 0 0 0.000422831 0 0 MUC16 94025 broad.mit.edu 37 19 9087450 9087450 + Silent SNP G T T TCGA-EE-A3AC-06A-11D-A196-08 TCGA-EE-A3AC-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 883d623b-c427-4444-9ee3-66d18648130f f8f00311-8db5-4187-bcb8-5054d9fbdac3 g.chr19:9087450G>T uc002mkp.3 - 0 4569 c.4365C>A c.(4363-4365)ctC>ctA p.L1455L NM_024690 NP_078966 Q8WXI7 MUC16_HUMAN Homo sapiens mucin 16, cell surface associated (MUC16), mRNA. 1455 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 TTGCCATGGGGAGAGTGATTG 0.488000 40 39 3.21399e-22 1.48641e-21 0.000953801 1 0 LAMB3 3914 broad.mit.edu 37 1 209796339 209796339 + Silent SNP C T T TCGA-EE-A3AC-06A-11D-A196-08 TCGA-EE-A3AC-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 883d623b-c427-4444-9ee3-66d18648130f f8f00311-8db5-4187-bcb8-5054d9fbdac3 g.chr1:209796339C>T uc001hhg.3 - 15 2934 c.2544G>A c.(2542-2544)cgG>cgA p.R848R LAMB3_uc009xco.3_Silent_p.R848R|LAMB3_uc001hhh.3_Silent_p.R848R|LAMB3_uc010psl.1_Non-coding_Transcript NM_001017402 NP_001121113 Q13751 LAMB3_HUMAN Homo sapiens laminin, beta 3 (LAMB3), transcript variant 2, mRNA. 848 Domain I. cell adhesion|epidermis development|hemidesmosome assembly structural molecule activity NS(1)|breast(3)|central_nervous_system(2)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(11)|lung(13)|ovary(1)|prostate(1)|skin(4)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 45 OV - Ovarian serous cystadenocarcinoma(81;0.0519) TCTGCCTGGTCCGCTGGAGCT 0.652000 134 47 0 0 0.000781405 0 0 KRT77 374454 broad.mit.edu 37 12 53096951 53096951 + Missense_Mutation SNP C T T TCGA-EE-A3AC-06A-11D-A196-08 TCGA-EE-A3AC-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 883d623b-c427-4444-9ee3-66d18648130f f8f00311-8db5-4187-bcb8-5054d9fbdac3 g.chr12:53096951C>T uc001saw.3 - 0 297 c.268G>A c.(268-270)Gga>Aga p.G90R KRT77_uc009zmi.3_5'UTR NM_175078 NP_778253 Q7Z794 K2C1B_HUMAN Homo sapiens keratin 77 (KRT77), mRNA. 90 Head. keratin filament structural molecule activity NS(2)|endometrium(2)|large_intestine(3)|lung(11)|ovary(2)|skin(1)|stomach(2)|upper_aerodigestive_tract(2) 25 CCTCCAAATCCCCCTACTCCC 0.572000 4 6 0 0 0.00198382 0 0 ALKBH7 84266 broad.mit.edu 37 19 6374579 6374579 + Missense_Mutation SNP C T T TCGA-EE-A3AC-06A-11D-A196-08 TCGA-EE-A3AC-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 883d623b-c427-4444-9ee3-66d18648130f f8f00311-8db5-4187-bcb8-5054d9fbdac3 g.chr19:6374579C>T uc002meo.2 + 2 870 c.482C>T c.(481-483)cCg>cTg p.P161L NM_032306 NP_115682 Q9BT30 ALKB7_HUMAN Homo sapiens alkB, alkylation repair homolog 7 (E. coli) (ALKBH7), mRNA. 161 extracellular region|nucleus metal ion binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen breast(2)|kidney(1)|lung(1)|skin(1)|upper_aerodigestive_tract(1) 6 TTGCTGGAGCCGGGCTCCCTC 0.642000 20 7 0 0 0.00198382 0 0 ATR 545 broad.mit.edu 37 3 142281766 142281767 + Missense_Mutation DNP GG AA AA TCGA-EE-A3AC-06A-11D-A196-08 TCGA-EE-A3AC-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 883d623b-c427-4444-9ee3-66d18648130f f8f00311-8db5-4187-bcb8-5054d9fbdac3 g.chr3:142281766_142281767GG>AA uc003eux.4 - 3 599_600 c.477_478CC>TT c.(475-480)ctccat>ctTTat p.H160Y NM_001184 NP_001175 Q13535 ATR_HUMAN Homo sapiens ataxia telangiectasia and Rad3 related (ATR), mRNA. 160 DNA damage checkpoint|DNA repair|DNA replication|cell cycle|cellular response to UV|cellular response to gamma radiation|multicellular organismal development|negative regulation of DNA replication|peptidyl-serine phosphorylation|positive regulation of DNA damage response, signal transduction by p53 class mediator|protein autophosphorylation|replicative senescence PML body ATP binding|DNA binding|MutLalpha complex binding|MutSalpha complex binding|protein serine/threonine kinase activity NS(1)|breast(10)|central_nervous_system(1)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(20)|liver(2)|lung(45)|ovary(3)|skin(10)|stomach(4)|upper_aerodigestive_tract(2)|urinary_tract(4) 122 TTTCTTCTATGGAGGTAAACCA 0.361000 Other conserved DNA damage response genes 72 42 0 0 6.4e-05 0 0 SLC22A12 116085 broad.mit.edu 37 11 64367873 64367873 + Silent SNP G A A TCGA-EE-A3AC-06A-11D-A196-08 TCGA-EE-A3AC-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 883d623b-c427-4444-9ee3-66d18648130f f8f00311-8db5-4187-bcb8-5054d9fbdac3 g.chr11:64367873G>A uc001oam.1 + 7 2067 c.1320G>A c.(1318-1320)ctG>ctA p.L440L SLC22A12_uc001oal.1_Silent_p.L219L|SLC22A12_uc009yps.1_Silent_p.L406L|SLC22A12_uc001oan.1_Silent_p.L332L|SLC22A12_uc009ypt.3_Silent_p.L258L NM_144585 NP_700357 Q96S37 S22AC_HUMAN Homo sapiens solute carrier family 22 (organic anion/urate transporter), member 12 (SLC22A12), transcript variant 1, mRNA. 440 cellular homeostasis|response to drug|urate metabolic process apical plasma membrane|brush border membrane|integral to membrane PDZ domain binding|urate transmembrane transporter activity central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(2)|lung(9)|ovary(2)|prostate(2)|skin(4)|upper_aerodigestive_tract(1) 27 TGGCCGTGCTGGGGCTGGGCG 0.642000 14 8 0 0 0.000274275 0 0 ZNF735 730291 broad.mit.edu 37 7 63674484 63674484 + Missense_Mutation SNP C T T TCGA-EE-A3AC-06A-11D-A196-08 TCGA-EE-A3AC-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 883d623b-c427-4444-9ee3-66d18648130f f8f00311-8db5-4187-bcb8-5054d9fbdac3 g.chr7:63674484C>T uc011kdn.2 + 2 260 c.260C>T c.(259-261)cCa>cTa p.P87L NM_001159524 NP_001152996 P0CB33 ZN735_HUMAN Homo sapiens zinc finger protein 735 (ZNF735), mRNA. 87 KRAB. regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding GCCAAACACCCAGGTAGGTGA 0.453000 24 13 0 0 0.00185496 0 0 METTL19 152992 broad.mit.edu 37 4 8477615 8477615 + Missense_Mutation SNP T C C TCGA-EE-A3AC-06A-11D-A196-08 TCGA-EE-A3AC-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 883d623b-c427-4444-9ee3-66d18648130f f8f00311-8db5-4187-bcb8-5054d9fbdac3 g.chr4:8477615T>C uc003glg.2 + 10 2179 c.2161T>C c.(2161-2163)Ttc>Ctc p.F721L METTL19_uc003glh.1_Missense_Mutation_p.F329L|METTL19_uc003gli.1_Non-coding_Transcript NM_152544 NP_689757 Q8IYL2 TRM44_HUMAN Homo sapiens methyltransferase like 19 (METTL19), transcript variant 2, mRNA. 721 tRNA processing cytoplasm methyltransferase activity|nucleic acid binding|zinc ion binding kidney(1)|lung(6)|ovary(3)|prostate(1) 11 CCTCTGCTGGTTCTTCATGCA 0.617000 77 57 0 0 0.000781405 0 0 ILDR2 387597 broad.mit.edu 37 1 166891849 166891849 + Nonsense_Mutation SNP G A A TCGA-EE-A3AC-06A-11D-A196-08 TCGA-EE-A3AC-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 883d623b-c427-4444-9ee3-66d18648130f f8f00311-8db5-4187-bcb8-5054d9fbdac3 g.chr1:166891849G>A uc001gdx.2 - 7 1248 c.1192C>T c.(1192-1194)Cga>Tga p.R398* NM_199351 NP_955383 Q71H61 ILDR2_HUMAN Homo sapiens immunoglobulin-like domain containing receptor 2 (ILDR2), mRNA. 398 integral to membrane NS(3)|breast(1)|kidney(2)|large_intestine(2)|lung(9)|ovary(1)|skin(2)|upper_aerodigestive_tract(2) 22 AAGCTCTCTCGATCCTCTTTG 0.597000 248 79 0 0 0.000781405 0 0 OR2T27 403239 broad.mit.edu 37 1 248813307 248813307 + Silent SNP C T T TCGA-EE-A3AC-06A-11D-A196-08 TCGA-EE-A3AC-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 883d623b-c427-4444-9ee3-66d18648130f f8f00311-8db5-4187-bcb8-5054d9fbdac3 g.chr1:248813307C>T uc010pzo.2 - 0 879 c.879G>A c.(877-879)agG>agA p.R293R NM_001001824 NP_001001824 Q8NH04 O2T27_HUMAN Homo sapiens olfactory receptor, family 2, subfamily T, member 27 (OR2T27), mRNA. 293 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity breast(2)|endometrium(2)|large_intestine(4)|lung(20)|skin(3)|stomach(1) 32 all_cancers(71;1.15e-05)|all_epithelial(71;5.29e-06)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.089)|Lung NSC(105;0.0969)|Melanoma(84;0.199) all_cancers(173;0.237) OV - Ovarian serous cystadenocarcinoma(106;0.0265) CATCCTTGTTCCTAAGGCTGT 0.483000 61 26 0 0 0.00127121 0 0 ASPM 259266 broad.mit.edu 37 1 197071094 197071094 + Silent SNP G A A TCGA-EE-A3AC-06A-11D-A196-08 TCGA-EE-A3AC-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 883d623b-c427-4444-9ee3-66d18648130f f8f00311-8db5-4187-bcb8-5054d9fbdac3 g.chr1:197071094G>A uc001gtu.3 - 17 7544 c.7287C>T c.(7285-7287)tcC>tcT p.S2429S ASPM_uc001gtv.3_Intron|ASPM_uc001gtw.4_Silent_p.S277S NM_018136 NP_060606 Q8IZT6 ASPM_HUMAN Homo sapiens asp (abnormal spindle) homolog, microcephaly associated (Drosophila) (ASPM), transcript variant 1, mRNA. 2429 IQ 25. mitosis cytoplasm|nucleus calmodulin binding p.I2428F(1) breast(6)|central_nervous_system(2)|cervix(2)|endometrium(10)|kidney(9)|large_intestine(28)|liver(1)|lung(87)|ovary(5)|pancreas(2)|prostate(6)|skin(4)|urinary_tract(3) 165 CTTTTTTGAGGGAAATGAATC 0.378000 11 5 0 0 0.000602214 0 0 MUC16 94025 broad.mit.edu 37 19 9048603 9048603 + Missense_Mutation SNP G A A TCGA-EE-A3AC-06A-11D-A196-08 TCGA-EE-A3AC-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 883d623b-c427-4444-9ee3-66d18648130f f8f00311-8db5-4187-bcb8-5054d9fbdac3 g.chr19:9048603G>A uc002mkp.3 - 4 33232 c.33028C>T c.(33028-33030)Cct>Tct p.P11010S NM_024690 NP_078966 Q8WXI7 MUC16_HUMAN Homo sapiens mucin 16, cell surface associated (MUC16), mRNA. 11012 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 GGTTCACCAGGAGAAAGAGTC 0.507000 28 12 0 0 0.00185496 0 0 KIF1B 23095 broad.mit.edu 37 1 10383972 10383972 + Missense_Mutation SNP A G G TCGA-EE-A3AC-06A-11D-A196-08 TCGA-EE-A3AC-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 883d623b-c427-4444-9ee3-66d18648130f f8f00311-8db5-4187-bcb8-5054d9fbdac3 g.chr1:10383972A>G uc001aqx.4 + 24 2591 c.2389A>G c.(2389-2391)Aca>Gca p.T797A KIF1B_uc001aqw.4_Missense_Mutation_p.T751A|KIF1B_uc001aqy.3_Missense_Mutation_p.T771A|KIF1B_uc001aqz.3_Missense_Mutation_p.T797A|KIF1B_uc001ara.3_Missense_Mutation_p.T757A|KIF1B_uc001arb.3_Missense_Mutation_p.T783A NM_015074 NP_055889 O60333 KIF1B_HUMAN Homo sapiens kinesin family member 1B (KIF1B), transcript variant 1, mRNA. 797 anterograde axon cargo transport|apoptosis|neuromuscular synaptic transmission|neuron-neuron synaptic transmission cytoplasmic vesicle membrane|microtubule|microtubule associated complex|mitochondrion ATP binding|ATPase activity|kinesin binding|microtubule motor activity|protein binding breast(2)|endometrium(7)|kidney(8)|large_intestine(9)|lung(29)|ovary(3)|prostate(3)|skin(5)|stomach(3)|upper_aerodigestive_tract(2) 71 Ovarian(185;0.203) all_lung(284;1.31e-05)|Lung NSC(185;2.2e-05)|Renal(390;0.000147)|Breast(348;0.00093)|Colorectal(325;0.00205)|Hepatocellular(190;0.00913)|Ovarian(437;0.0228)|Myeloproliferative disorder(586;0.0255) UCEC - Uterine corpus endometrioid carcinoma (279;0.0259)|Colorectal(212;9.79e-07)|COAD - Colon adenocarcinoma(227;0.000143)|BRCA - Breast invasive adenocarcinoma(304;0.000413)|Kidney(185;0.00134)|KIRC - Kidney renal clear cell carcinoma(229;0.0037)|STAD - Stomach adenocarcinoma(132;0.0113)|READ - Rectum adenocarcinoma(331;0.0642) GCTGACTGACACACTGTACTC 0.443000 60 33 0 0 0.00128727 0 0 DDX53 168400 broad.mit.edu 37 X 23018584 23018584 + Missense_Mutation SNP A T T TCGA-EE-A3AC-06A-11D-A196-08 TCGA-EE-A3AC-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 883d623b-c427-4444-9ee3-66d18648130f f8f00311-8db5-4187-bcb8-5054d9fbdac3 g.chrX:23018584A>T uc004daj.3 + 0 507 c.410A>T c.(409-411)aAt>aTt p.N137I NM_182699 NP_874358 Q86TM3 DDX53_HUMAN Homo sapiens DEAD (Asp-Glu-Ala-Asp) box polypeptide 53 (DDX53), mRNA. 137 nucleus ATP binding|ATP-dependent helicase activity|RNA binding breast(2)|endometrium(5)|kidney(4)|large_intestine(3)|lung(15)|ovary(1)|prostate(1)|skin(2)|urinary_tract(2) 35 ATTGGAAGAAATCTAGGCAGA 0.438000 11 52 0 0 0.000781405 0 0 EFHD2 79180 broad.mit.edu 37 1 15752394 15752394 + Silent SNP C T T TCGA-EE-A3AC-06A-11D-A196-08 TCGA-EE-A3AC-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 883d623b-c427-4444-9ee3-66d18648130f f8f00311-8db5-4187-bcb8-5054d9fbdac3 g.chr1:15752394C>T uc001awh.2 + 1 413 c.336C>T c.(334-336)atC>atT p.I112I NM_024329 NP_077305 Q96C19 EFHD2_HUMAN Homo sapiens EF-hand domain family, member D2 (EFHD2), mRNA. 112 EF-hand 1. membrane raft large_intestine(1)|skin(1) 2 Renal(390;0.00145)|Breast(348;0.00173)|Colorectal(325;0.00215)|all_lung(284;0.00366)|Lung NSC(340;0.00395)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0798)|Hepatocellular(190;0.152) UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;6.59e-07)|COAD - Colon adenocarcinoma(227;3.79e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000119)|KIRC - Kidney renal clear cell carcinoma(229;0.00251)|STAD - Stomach adenocarcinoma(313;0.00727)|READ - Rectum adenocarcinoma(331;0.0649) ACGGCTTCATCGACCTGATGG 0.542000 68 48 0 0 0.000781405 0 0 CES4A 283848 broad.mit.edu 37 16 67029612 67029612 + Missense_Mutation SNP C T T TCGA-EE-A3AC-06A-11D-A196-08 TCGA-EE-A3AC-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 883d623b-c427-4444-9ee3-66d18648130f f8f00311-8db5-4187-bcb8-5054d9fbdac3 g.chr16:67029612C>T uc002eqv.3 + 1 324 c.209C>T c.(208-210)cCc>cTc p.P70L CES4A_uc010vix.2_Missense_Mutation_p.P47L|CES4A_uc002eqw.3_Missense_Mutation_p.P7L NM_001190201 NP_001177130 Q5XG92 EST4A_HUMAN Homo sapiens carboxylesterase 4A (CES4A), transcript variant 3, mRNA. 47 extracellular region carboxylesterase activity large_intestine(2)|liver(2)|lung(4)|ovary(1) 9 GGGAAGACACCCATCCAAGTC 0.522000 40 32 0 0 0.00058488 0 0 ZC3H12B 340554 broad.mit.edu 37 X 64721966 64721966 + Missense_Mutation SNP C T T TCGA-EE-A3AC-06A-11D-A196-08 TCGA-EE-A3AC-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 883d623b-c427-4444-9ee3-66d18648130f f8f00311-8db5-4187-bcb8-5054d9fbdac3 g.chrX:64721966C>T uc010nko.3 + 4 1455 c.1388C>T c.(1387-1389)cCc>cTc p.P463L NM_001010888 NP_001010888 Q5HYM0 ZC12B_HUMAN Homo sapiens zinc finger CCCH-type containing 12B (ZC3H12B), mRNA. 452 endonuclease activity|nucleic acid binding|zinc ion binding p.P313H(1)|p.P399H(1) breast(2)|endometrium(4)|kidney(2)|large_intestine(4)|lung(13)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 29 AGTTCTGTCCCCTCGCTTGTG 0.607000 2 15 0 0 0.000308642 0 0 ADAMTSL1 92949 broad.mit.edu 37 9 18889697 18889697 + Missense_Mutation SNP C T T TCGA-EE-A3AC-06A-11D-A196-08 TCGA-EE-A3AC-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 883d623b-c427-4444-9ee3-66d18648130f f8f00311-8db5-4187-bcb8-5054d9fbdac3 g.chr9:18889697C>T uc003zne.4 + 24 4746 c.4594C>T c.(4594-4596)Cgc>Tgc p.R1532C ADAMTSL1_uc003znf.4_Missense_Mutation_p.R233C NM_001040272 NP_001035362 Q8N6G6 ATL1_HUMAN Homo sapiens ADAMTS-like 1 (ADAMTSL1), transcript variant 4, mRNA. 1532 proteinaceous extracellular matrix metallopeptidase activity|zinc ion binding p.R1532C(1) breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|liver(2)|lung(17)|ovary(3)|prostate(2)|skin(1)|upper_aerodigestive_tract(1) 42 GBM - Glioblastoma multiforme(50;1.29e-17) AGGGAAGGTTCGCCCTGCGGT 0.667000 8 5 0 0 0.00116845 0 0 EEF1A2 1917 broad.mit.edu 37 20 62120348 62120348 + Missense_Mutation SNP G A A TCGA-EE-A3AC-06A-11D-A196-08 TCGA-EE-A3AC-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 883d623b-c427-4444-9ee3-66d18648130f f8f00311-8db5-4187-bcb8-5054d9fbdac3 g.chr20:62120348G>A uc002yfe.1 - 6 1353 c.1187C>T c.(1186-1188)tCt>tTt p.S396F NM_001958 NP_001949 Q05639 EF1A2_HUMAN Homo sapiens eukaryotic translation elongation factor 1 alpha 2 (EEF1A2), mRNA. 396 nucleus GTP binding|GTPase activity|protein binding|translation elongation factor activity breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(14)|stomach(1) 20 all_cancers(38;9.45e-12) BRCA - Breast invasive adenocarcinoma(10;1.22e-05) CGCGTCTCCAGACTTCAGGGA 0.627000 73 25 0 0 0.00178596 0 0 MYH11 4629 broad.mit.edu 37 16 15841753 15841753 + Missense_Mutation SNP C T T TCGA-EE-A3AC-06A-11D-A196-08 TCGA-EE-A3AC-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 883d623b-c427-4444-9ee3-66d18648130f f8f00311-8db5-4187-bcb8-5054d9fbdac3 g.chr16:15841753C>T uc002ddx.3 - 18 2356 c.2249G>A c.(2248-2250)gGg>gAg p.G750E MYH11_uc002ddv.3_Missense_Mutation_p.G750E|MYH11_uc002ddw.3_Missense_Mutation_p.G743E|MYH11_uc002ddy.3_Missense_Mutation_p.G743E|MYH11_uc010bvg.3_Missense_Mutation_p.G575E NM_001040114 NP_001035203 P35749 MYH11_HUMAN Homo sapiens myosin, heavy chain 11, smooth muscle (MYH11), transcript variant SM1B, mRNA. 743 Myosin head-like. axon guidance|cardiac muscle fiber development|elastic fiber assembly|skeletal muscle myosin thick filament assembly|smooth muscle contraction cytosol|melanosome|muscle myosin complex|myosin filament ATP binding|actin binding|calmodulin binding|motor activity|structural constituent of muscle p.M750T(1) NS(2)|breast(7)|central_nervous_system(1)|endometrium(11)|kidney(5)|large_intestine(34)|liver(1)|lung(37)|ovary(9)|pancreas(1)|prostate(7)|skin(7)|upper_aerodigestive_tract(1) 123 GGCCTGCTTCCCGTCCATGAA 0.587000 T CBFB AML 32 10 0 0 0.00185496 0 0 SYT3 84258 broad.mit.edu 37 19 51140539 51140539 + Missense_Mutation SNP G A A TCGA-EE-A3AC-06A-11D-A196-08 TCGA-EE-A3AC-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 883d623b-c427-4444-9ee3-66d18648130f f8f00311-8db5-4187-bcb8-5054d9fbdac3 g.chr19:51140539G>A uc002pst.3 - 0 764 c.130C>T c.(130-132)Ccc>Tcc p.P44S SYT3_uc002psv.3_Missense_Mutation_p.P44S|SYT3_uc010ycd.2_Missense_Mutation_p.P44S|Mir_324_uc021uye.1_5'Flank NM_032298 NP_115674 Q9BQG1 SYT3_HUMAN Homo sapiens synaptotagmin III (SYT3), transcript variant 1, mRNA. 44 cell junction|endosome|integral to membrane|synaptic vesicle membrane metal ion binding|transporter activity breast(1)|endometrium(2)|kidney(2)|large_intestine(5)|lung(16)|ovary(2)|prostate(2)|skin(3)|urinary_tract(2) 35 all_neural(266;0.131) OV - Ovarian serous cystadenocarcinoma(262;0.00462)|GBM - Glioblastoma multiforme(134;0.0188) GGACCCCGGGGATAGCCTCGG 0.627000 47 31 0 0 0.000491102 0 0 PCSK5 5125 broad.mit.edu 37 9 78682918 78682918 + Missense_Mutation SNP C T T TCGA-EE-A3AC-06A-11D-A196-08 TCGA-EE-A3AC-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 883d623b-c427-4444-9ee3-66d18648130f f8f00311-8db5-4187-bcb8-5054d9fbdac3 g.chr9:78682918C>T uc004akc.2 + 5 1218 c.680C>T c.(679-681)tCg>tTg p.S227L PCSK5_uc004ajy.2_Missense_Mutation_p.S227L|PCSK5_uc004ajz.3_Missense_Mutation_p.S227L|PCSK5_uc004aka.3_Non-coding_Transcript NM_001190482 NP_001177411 Q92824 PCSK5_HUMAN Homo sapiens proprotein convertase subtilisin/kexin type 5 (PCSK5), transcript variant 1, mRNA. 227 Catalytic. anterior/posterior pattern formation|cell-cell signaling|cytokine biosynthetic process|embryo implantation|embryonic digestive tract development|embryonic skeletal system development|heart development|kidney development|limb morphogenesis|nerve growth factor processing|nerve growth factor receptor signaling pathway|peptide biosynthetic process|renin secretion into blood stream|respiratory tube development|signal peptide processing|viral assembly, maturation, egress, and release Golgi lumen|extracellular space|stored secretory granule peptide binding|serine-type endopeptidase activity NS(1)|breast(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(7)|liver(2)|lung(25)|ovary(2)|pancreas(1)|prostate(2)|skin(3) 55 GCAAACAATTCGCACTGCACA 0.512000 70 54 0 0 0.000781405 0 0 PRPH2 5961 broad.mit.edu 37 6 42666149 42666149 + Missense_Mutation SNP C T T TCGA-EE-A3AC-06A-11D-A196-08 TCGA-EE-A3AC-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 883d623b-c427-4444-9ee3-66d18648130f f8f00311-8db5-4187-bcb8-5054d9fbdac3 g.chr6:42666149C>T uc003osk.3 - 2 1211 c.925G>A c.(925-927)Gag>Aag p.E309K NM_000322 NP_000313 P23942 PRPH2_HUMAN Homo sapiens peripherin 2 (retinal degeneration, slow) (PRPH2), mRNA. 309 cell adhesion|visual perception integral to membrane p.E309K(2) NS(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(6)|lung(1)|ovary(4)|prostate(1)|skin(1)|urinary_tract(1) 18 Colorectal(47;0.196) Colorectal(64;0.00062)|COAD - Colon adenocarcinoma(64;0.00152)|all cancers(41;0.00178)|KIRC - Kidney renal clear cell carcinoma(15;0.02)|Kidney(15;0.0388)|OV - Ovarian serous cystadenocarcinoma(102;0.0904) ACGCTCCTCTCCAGCAGCCAG 0.627000 32 18 0 0 0.00229938 0 0 PLD1 5337 broad.mit.edu 37 3 171395396 171395396 + Silent SNP G A A TCGA-EE-A3AC-06A-11D-A196-08 TCGA-EE-A3AC-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 883d623b-c427-4444-9ee3-66d18648130f f8f00311-8db5-4187-bcb8-5054d9fbdac3 g.chr3:171395396G>A uc003fhs.3 - 16 2303 c.1956C>T c.(1954-1956)ttC>ttT p.F652F PLD1_uc003fht.3_Silent_p.F614F|PLD1_uc003fhu.4_5'Flank|PLD1_uc003fhv.1_5'UTR NM_002662 NP_002653 Q13393 PLD1_HUMAN Homo sapiens phospholipase D1, phosphatidylcholine-specific (PLD1), transcript variant 1, mRNA. 652 Catalytic. Ras protein signal transduction|cell communication|chemotaxis Golgi membrane|endoplasmic reticulum membrane|late endosome membrane|perinuclear region of cytoplasm NAPE-specific phospholipase D activity|phosphatidylinositol binding|phospholipase D activity p.F652F(2) breast(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(15)|lung(27)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(1) 63 all_cancers(22;4.53e-19)|Ovarian(172;0.00197)|Breast(254;0.186) LUSC - Lung squamous cell carcinoma(14;3.57e-14)|Lung(28;9.39e-14) Choline(DB00122) CTTTGAAGACGAAATTGCAGT 0.448000 45 29 0 0 0.00209593 0 0 IQCA1 79781 broad.mit.edu 37 2 237285791 237285791 + Missense_Mutation SNP C T T TCGA-EE-A3AC-06A-11D-A196-08 TCGA-EE-A3AC-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 883d623b-c427-4444-9ee3-66d18648130f f8f00311-8db5-4187-bcb8-5054d9fbdac3 g.chr2:237285791C>T uc002vwb.2 - 12 1574 c.1540G>A c.(1540-1542)Gga>Aga p.G514R IQCA1_uc002vvz.1_Missense_Mutation_p.G506R|IQCA1_uc002vwa.1_Non-coding_Transcript|IQCA1_uc010zni.1_Missense_Mutation_p.G465R NM_024726 NP_079002 Q86XH1 IQCA1_HUMAN Homo sapiens IQ motif containing with AAA domain 1 (IQCA1), mRNA. 506 ATP binding cervix(1)|endometrium(3)|kidney(2)|large_intestine(7)|lung(12)|ovary(1) 26 ATCAGTAATCCTTCTTCCACC 0.453000 51 27 0 0 0.001512 0 0 SLC10A1 6554 broad.mit.edu 37 14 70263759 70263759 + Silent SNP G A A TCGA-EE-A3AC-06A-11D-A196-08 TCGA-EE-A3AC-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 883d623b-c427-4444-9ee3-66d18648130f f8f00311-8db5-4187-bcb8-5054d9fbdac3 g.chr14:70263759G>A uc001xlr.2 - 0 248 c.114C>T c.(112-114)atC>atT p.I38I NM_003049 NP_003040 Q14973 NTCP_HUMAN Homo sapiens solute carrier family 10 (sodium/bile acid cotransporter family), member 1 (SLC10A1), mRNA. 38 bile acid metabolic process|organic anion transport integral to plasma membrane bile acid:sodium symporter activity NS(1)|breast(1)|endometrium(1)|large_intestine(3)|lung(5)|ovary(2)|prostate(1) 14 all cancers(60;0.00228)|BRCA - Breast invasive adenocarcinoma(234;0.0137)|OV - Ovarian serous cystadenocarcinoma(108;0.0226) GCGAGAGCATGATGAAGAACA 0.562000 25 23 0 0 0.00229938 0 0 MUC16 94025 broad.mit.edu 37 19 9083313 9083313 + Silent SNP C T T TCGA-EE-A3AC-06A-11D-A196-08 TCGA-EE-A3AC-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 883d623b-c427-4444-9ee3-66d18648130f f8f00311-8db5-4187-bcb8-5054d9fbdac3 g.chr19:9083313C>T uc002mkp.3 - 0 8706 c.8502G>A c.(8500-8502)acG>acA p.T2834T NM_024690 NP_078966 Q8WXI7 MUC16_HUMAN Homo sapiens mucin 16, cell surface associated (MUC16), mRNA. 2834 Ser-rich.|Thr-rich. T -> M (in dbSNP:rs10407623). 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 TCAGTCTGTTCGTGGTGATTT 0.507000 8 6 0 0 0.00116845 0 0 PCDHGC5 56097 broad.mit.edu 37 5 140793665 140793665 + Missense_Mutation SNP C T T TCGA-EE-A3AC-06A-11D-A196-08 TCGA-EE-A3AC-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 883d623b-c427-4444-9ee3-66d18648130f f8f00311-8db5-4187-bcb8-5054d9fbdac3 g.chr5:140793665C>T uc003lkl.2 + 0 923 c.923C>T c.(922-924)tCa>tTa p.S308L PCDHGC5_uc003lji.2_Intron|PCDHGC5_uc003ljk.2_Intron|PCDHGC5_uc003ljm.2_Intron|PCDHGC5_uc003ljo.2_Intron|PCDHGC5_uc003ljq.2_Intron|PCDHGC5_uc003ljs.2_Intron|PCDHGC5_uc003lju.2_Intron|PCDHGC5_uc003ljw.2_Intron|PCDHGC5_uc003ljy.2_Intron|PCDHGC5_uc003lka.2_Intron|PCDHGC5_uc003lkc.2_Intron|PCDHGC5_uc003lkd.2_Intron|PCDHGC5_uc003lkf.2_Intron|PCDHGC5_uc003lkh.2_Intron|PCDHGC5_uc003lkj.2_Intron|PCDHGC5_uc011day.2_Missense_Mutation_p.S308L NM_018913 NP_061736 Q9Y5F6 PCDGM_HUMAN Homo sapiens protocadherin gamma subfamily A, 10 (PCDHGA10), transcript variant 1, mRNA. 305 Cadherin 3. homophilic cell adhesion integral to membrane|plasma membrane calcium ion binding p.P307T(1) breast(2)|central_nervous_system(2)|endometrium(6)|kidney(4)|large_intestine(4)|lung(10)|ovary(4)|prostate(1)|urinary_tract(2) 35 KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191) ATAAAAATATCAGAAAATCTA 0.343000 18 7 0 0 0.000157383 0 0 CCDC40 55036 broad.mit.edu 37 17 78023898 78023898 + Silent SNP G A A TCGA-EE-A3AC-06A-11D-A196-08 TCGA-EE-A3AC-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 883d623b-c427-4444-9ee3-66d18648130f f8f00311-8db5-4187-bcb8-5054d9fbdac3 g.chr17:78023898G>A uc010dht.3 + 6 1006 c.975G>A c.(973-975)caG>caA p.Q325Q CCDC40_uc010wub.2_Silent_p.Q325Q|CCDC40_uc021uem.1_Silent_p.Q325Q|CCDC40_uc002jxm.4_Silent_p.Q108Q NM_017950 NP_060420 Q4G0X9 CCD40_HUMAN Homo sapiens coiled-coil domain containing 40 (CCDC40), transcript variant 1, mRNA. 325 axonemal dynein complex assembly|ciliary cell motility|cilium movement involved in determination of left/right asymmetry|flagellar cell motility cilium|cytoplasm NS(1)|breast(1)|endometrium(4)|kidney(4)|large_intestine(7)|lung(12)|ovary(4)|prostate(1)|skin(2)|stomach(1)|urinary_tract(1) 38 all_neural(118;0.167) OV - Ovarian serous cystadenocarcinoma(97;0.0292)|BRCA - Breast invasive adenocarcinoma(99;0.149) CCCAGCGGCAGGAGCTGGGGG 0.622000 14 44 0 0 0.000781405 0 0 PCDHGC5 56097 broad.mit.edu 37 5 140740377 140740377 + Silent SNP G A A TCGA-EE-A3AC-06A-11D-A196-08 TCGA-EE-A3AC-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 883d623b-c427-4444-9ee3-66d18648130f f8f00311-8db5-4187-bcb8-5054d9fbdac3 g.chr5:140740377G>A uc003ljs.2 + 0 675 c.675G>A c.(673-675)acG>acA p.T225T PCDHGC5_uc003lji.2_Intron|PCDHGC5_uc003ljk.2_Intron|PCDHGC5_uc003ljm.2_Intron|PCDHGC5_uc003ljo.2_Intron|PCDHGC5_uc003ljq.2_Intron|PCDHGC5_uc011dar.2_Silent_p.T225T NM_018923 NP_061746 Q9Y5F6 PCDGM_HUMAN Homo sapiens protocadherin gamma subfamily B, 2 (PCDHGB2), transcript variant 1, mRNA. 225 Cadherin 2. homophilic cell adhesion integral to membrane|plasma membrane calcium ion binding p.G224V(1) breast(2)|central_nervous_system(2)|endometrium(6)|kidney(4)|large_intestine(4)|lung(10)|ovary(4)|prostate(1)|urinary_tract(2) 35 KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191) AAAGTGGCACGACCCAAATCC 0.542000 31 45 0 0 0.000781405 0 0 ATP13A3 79572 broad.mit.edu 37 3 194134539 194134539 + Silent SNP T A A TCGA-EE-A3AC-06A-11D-A196-08 TCGA-EE-A3AC-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 883d623b-c427-4444-9ee3-66d18648130f f8f00311-8db5-4187-bcb8-5054d9fbdac3 g.chr3:194134539T>A uc003fty.4 - 30 3834 c.3432A>T c.(3430-3432)gtA>gtT p.V1144V ATP13A3_uc003ftx.4_Silent_p.V23V NM_024524 NP_078800 Q9H7F0 AT133_HUMAN Homo sapiens ATPase type 13A3 (ATP13A3), mRNA. 1144 ATP biosynthetic process|cation transport integral to membrane ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|metal ion binding NS(2)|endometrium(3)|kidney(3)|large_intestine(2)|lung(10)|ovary(1)|prostate(1)|skin(1)|urinary_tract(1) 24 all_cancers(143;6.01e-09)|Ovarian(172;0.0634) Melanoma(1037;0.211) OV - Ovarian serous cystadenocarcinoma(49;3.83e-18)|LUSC - Lung squamous cell carcinoma(58;3.55e-06)|Lung(62;4.19e-06) GBM - Glioblastoma multiforme(46;5.98e-05) TGAGCATAGTTACACGCCACT 0.348000 126 95 0 0 0.000781405 0 0 RYR1 6261 broad.mit.edu 37 19 38997535 38997535 + Missense_Mutation SNP G A A TCGA-EE-A3AC-06A-11D-A196-08 TCGA-EE-A3AC-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 883d623b-c427-4444-9ee3-66d18648130f f8f00311-8db5-4187-bcb8-5054d9fbdac3 g.chr19:38997535G>A uc002oit.3 + 56 8889 c.8759G>A c.(8758-8760)cGa>cAa p.R2920Q RYR1_uc002oiu.3_Missense_Mutation_p.R2920Q|RYR1_uc002oiv.1_5'UTR NM_000540 NP_000531 P21817 RYR1_HUMAN Homo sapiens ryanodine receptor 1 (skeletal) (RYR1), transcript variant 1, mRNA. 2920 6 X approximate repeats. muscle contraction|release of sequestered calcium ion into cytosol|response to caffeine|response to hypoxia I band|cell cortex|cytosol|integral to plasma membrane|junctional sarcoplasmic reticulum membrane|smooth endoplasmic reticulum|terminal cisterna calcium ion binding|calmodulin binding|receptor activity|ryanodine-sensitive calcium-release channel activity NS(4)|autonomic_ganglia(2)|breast(3)|central_nervous_system(5)|endometrium(26)|haematopoietic_and_lymphoid_tissue(3)|kidney(34)|large_intestine(42)|liver(1)|lung(106)|ovary(11)|pancreas(5)|prostate(9)|skin(12)|stomach(11)|upper_aerodigestive_tract(4)|urinary_tract(7) 285 all_cancers(60;7.91e-06) Lung(45;0.00172)|LUSC - Lung squamous cell carcinoma(53;0.00272) Dantrolene(DB01219) GCACGAGATCGAGAGAAGGCC 0.622000 20 29 0 0 0.000692331 0 0 TMEM62 80021 broad.mit.edu 37 15 43476732 43476732 + Missense_Mutation SNP C T T TCGA-EE-A3AC-06A-11D-A196-08 TCGA-EE-A3AC-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 883d623b-c427-4444-9ee3-66d18648130f f8f00311-8db5-4187-bcb8-5054d9fbdac3 g.chr15:43476732C>T uc001zqr.3 + 13 2159 c.1880C>T c.(1879-1881)tCc>tTc p.S627F TMEM62_uc010bda.3_Missense_Mutation_p.S462F|CCNDBP1_uc021sjs.1_5'Flank|CCNDBP1_uc001zqv.3_5'Flank|CCNDBP1_uc010udl.2_5'Flank|CCNDBP1_uc021sjt.1_5'Flank|CCNDBP1_uc021sju.1_5'Flank|CCNDBP1_uc010bdb.3_5'Flank|CCNDBP1_uc001zqy.3_5'Flank NM_024956 NP_079232 Q0P6H9 TMM62_HUMAN Homo sapiens transmembrane protein 62 (TMEM62), mRNA. 627 integral to membrane breast(1)|cervix(1)|endometrium(3)|large_intestine(3)|lung(4)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2) 18 all_cancers(109;1.16e-10)|all_epithelial(112;2.01e-09)|Lung NSC(122;8.91e-07)|all_lung(180;8.8e-06)|Melanoma(134;0.0728) GBM - Glioblastoma multiforme(94;4.23e-07) ACACTGAACTCCACCAAGTTT 0.507000 66 39 0 0 0.00111076 0 0 LONRF2 164832 broad.mit.edu 37 2 100910764 100910764 + Missense_Mutation SNP G A A TCGA-EE-A3AC-06A-11D-A196-08 TCGA-EE-A3AC-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 883d623b-c427-4444-9ee3-66d18648130f f8f00311-8db5-4187-bcb8-5054d9fbdac3 g.chr2:100910764G>A uc002tal.4 - 8 2324 c.1684C>T c.(1684-1686)Cgg>Tgg p.R562W LONRF2_uc010yvs.2_Non-coding_Transcript NM_198461 NP_940863 Q1L5Z9 LONF2_HUMAN Homo sapiens LON peptidase N-terminal domain and ring finger 2 (LONRF2), mRNA. 562 Lon. R -> W (in a colorectal cancer sample; somatic mutation). proteolysis ATP-dependent peptidase activity|zinc ion binding p.R562W(2) NS(1)|breast(2)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(8)|lung(11)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(2) 34 ATCATAAGCCGATAGCGGGGC 0.527000 51 27 0 0 0.00106085 0 0 PER3 8863 broad.mit.edu 37 1 7861197 7861197 + Missense_Mutation SNP G A A TCGA-EE-A3AC-06A-11D-A196-08 TCGA-EE-A3AC-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 883d623b-c427-4444-9ee3-66d18648130f f8f00311-8db5-4187-bcb8-5054d9fbdac3 g.chr1:7861197G>A uc001aop.3 + 6 1042 c.818G>A c.(817-819)aGa>aAa p.R273K PER3_uc009vmg.1_Missense_Mutation_p.R273K|PER3_uc009vmh.1_Missense_Mutation_p.R273K|PER3_uc001aoo.3_Missense_Mutation_p.R272K|PER3_uc010nzw.2_5'UTR|PER3_uc001aon.3_Missense_Mutation_p.R272K NM_016831 NP_058515 P56645 PER3_HUMAN Homo sapiens period homolog 3 (Drosophila) (PER3), mRNA. 272 PAS 2. regulation of transcription, DNA-dependent|transcription, DNA-dependent cytoplasm|nucleus signal transducer activity breast(4)|central_nervous_system(3)|cervix(2)|endometrium(2)|kidney(2)|large_intestine(9)|lung(8)|ovary(1)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(2) 39 Ovarian(185;0.0634)|all_lung(157;0.178) all_epithelial(116;9.35e-21)|all_lung(118;7.57e-07)|Lung NSC(185;4.52e-06)|Renal(390;0.000147)|Breast(487;0.00086)|Colorectal(325;0.000959)|Hepatocellular(190;0.00825)|Ovarian(437;0.0253)|Myeloproliferative disorder(586;0.0255) UCEC - Uterine corpus endometrioid carcinoma (279;0.0234)|all cancers(8;8.58e-70)|GBM - Glioblastoma multiforme(8;1.81e-35)|Colorectal(212;2.06e-07)|COAD - Colon adenocarcinoma(227;1.92e-05)|Kidney(185;7.18e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000472)|STAD - Stomach adenocarcinoma(132;0.00118)|KIRC - Kidney renal clear cell carcinoma(229;0.00122)|READ - Rectum adenocarcinoma(331;0.0649) GTGAATAAAAGAATCTTCACC 0.333000 94 68 0 0 0.000781405 0 0 HEATR6 63897 broad.mit.edu 37 17 58145003 58145003 + Missense_Mutation SNP G T T TCGA-EE-A3AC-06A-11D-A196-08 TCGA-EE-A3AC-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 883d623b-c427-4444-9ee3-66d18648130f f8f00311-8db5-4187-bcb8-5054d9fbdac3 g.chr17:58145003G>T uc002iyk.1 - 7 1047 c.1030C>A c.(1030-1032)Cca>Aca p.P344T HEATR6_uc010ddk.1_5'Flank|HEATR6_uc010wos.1_Missense_Mutation_p.P176T NM_022070 NP_071353 Q6AI08 HEAT6_HUMAN Homo sapiens HEAT repeat containing 6 (HEATR6), mRNA. 344 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) CCAGTGACTGGGGCTGCCTCT 0.483000 73 6 0.00116845 0.00528496 0.00116845 1 0 abParts 0 broad.mit.edu 37 14 106926359 106926359 + RNA SNP C T T TCGA-EE-A3AC-06A-11D-A196-08 TCGA-EE-A3AC-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 883d623b-c427-4444-9ee3-66d18648130f f8f00311-8db5-4187-bcb8-5054d9fbdac3 g.chr14:106926359C>T uc021ser.1 - 325 c.11509G>A Parts of antibodies, mostly variable regions. CCAGACCCTTCCCCGGAGCTT 0.542000 42 18 0 0 0.000958276 0 0 PTPRT 11122 broad.mit.edu 37 20 40727103 40727103 + Silent SNP G A A TCGA-EE-A3AC-06A-11D-A196-08 TCGA-EE-A3AC-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 883d623b-c427-4444-9ee3-66d18648130f f8f00311-8db5-4187-bcb8-5054d9fbdac3 g.chr20:40727103G>A uc002xkg.3 - 26 3988 c.3804C>T c.(3802-3804)aaC>aaT p.N1268N PTPRT_uc010ggj.3_Silent_p.N1287N|PTPRT_uc010ggi.3_Silent_p.N471N NM_007050 NP_008981 O14522 PTPRT_HUMAN Homo sapiens protein tyrosine phosphatase, receptor type, T (PTPRT), transcript variant 2, mRNA. 1268 Tyrosine-protein phosphatase 2. homophilic cell adhesion|transmembrane receptor protein tyrosine kinase signaling pathway cell surface|integral to membrane|plasma membrane alpha-catenin binding|beta-catenin binding|cadherin binding|delta-catenin binding|gamma-catenin binding|protein tyrosine phosphatase activity|receptor activity NS(2)|breast(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(4)|kidney(12)|large_intestine(26)|liver(1)|lung(63)|ovary(8)|pancreas(2)|prostate(5)|skin(35)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(3) 176 Myeloproliferative disorder(115;0.00452)|Lung NSC(126;0.0573)|all_lung(126;0.0783) CAGAGGAGCAGTTGTAATCGA 0.592000 33 77 0 0 0.000781405 0 0 CEP44 80817 broad.mit.edu 37 4 175237393 175237393 + Silent SNP T A A TCGA-EE-A3AC-06A-11D-A196-08 TCGA-EE-A3AC-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 883d623b-c427-4444-9ee3-66d18648130f f8f00311-8db5-4187-bcb8-5054d9fbdac3 g.chr4:175237393T>A uc010iro.2 + 9 1343 c.1038T>A c.(1036-1038)acT>acA p.T346T CEP44_uc003its.2_Non-coding_Transcript|CEP44_uc003itr.3_Silent_p.T346T NM_001145314 NP_001138786 Q9C0F1 CEP44_HUMAN Homo sapiens centrosomal protein 44kDa (CEP44), transcript variant 2, mRNA. 346 centrosome|midbody|spindle pole endometrium(2)|large_intestine(4)|lung(5)|stomach(1) 12 CAGATTCAACTCCCAGAGCCT 0.378000 75 50 0 0 0.000781405 0 0 DNAJB3 414061 broad.mit.edu 37 2 234652230 234652230 + Silent SNP G A A TCGA-EE-A3AC-06A-11D-A196-08 TCGA-EE-A3AC-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 883d623b-c427-4444-9ee3-66d18648130f f8f00311-8db5-4187-bcb8-5054d9fbdac3 g.chr2:234652230G>A uc002vuz.3 - 0 432 c.333C>T c.(331-333)tcC>tcT p.S111S UGT1A1_uc010zmv.1_Intron|UGT1A1_uc002vup.3_Intron|UGT1A1_uc002vuq.3_Intron|UGT1A1_uc002vur.3_Intron|UGT1A1_uc010zmw.1_Intron|UGT1A1_uc002vus.3_Intron|UGT1A1_uc010zmx.1_Intron|UGT1A1_uc002vut.3_Intron|UGT1A1_uc002vuu.3_Intron|UGT1A1_uc010zmy.1_Intron|UGT1A1_uc002vuv.4_Intron|UGT1A1_uc010zmz.1_Intron|UGT1A1_uc002vuw.3_Intron|UGT1A1_uc010zna.1_Intron|UGT1A1_uc002vux.3_Intron|UGT1A1_uc010znb.1_Intron|UGT1A1_uc002vuy.3_Intron NM_001001394 NP_001001394 Q8WWF6 DNJB3_HUMAN Homo sapiens DnaJ (Hsp40) homolog, subfamily B, member 3 (DNAJB3), mRNA. 111 protein folding heat shock protein binding|unfolded protein binding AGAGGTCAAAGGAGAATGGGT 0.602000 46 26 0 0 0.00127121 0 0 SCN1A 6323 broad.mit.edu 37 2 166901660 166901660 + Missense_Mutation SNP C T T TCGA-EE-A3AC-06A-11D-A196-08 TCGA-EE-A3AC-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 883d623b-c427-4444-9ee3-66d18648130f f8f00311-8db5-4187-bcb8-5054d9fbdac3 g.chr2:166901660C>T uc002udo.4 - 11 1782 c.1555G>A c.(1555-1557)Gaa>Aaa p.E519K SCN1A_uc010fpk.3_Missense_Mutation_p.E519K|SCN1A_uc021vsb.1_Missense_Mutation_p.E519K NM_001202435 NP_001189364 P35498 SCN1A_HUMAN Homo sapiens sodium channel, voltage-gated, type I, alpha subunit (SCN1A), transcript variant 4, mRNA. 519 voltage-gated sodium channel complex voltage-gated sodium channel activity NS(4)|breast(5)|endometrium(16)|haematopoietic_and_lymphoid_tissue(4)|kidney(8)|large_intestine(33)|lung(87)|ovary(7)|pancreas(1)|prostate(9)|skin(23)|upper_aerodigestive_tract(2)|urinary_tract(1) 200 Lamotrigine(DB00555)|Levetiracetam(DB01202)|Phenacemide(DB01121)|Phenytoin(DB00252)|Topiramate(DB00273)|Zonisamide(DB00909) TTTTGGAATTCATCCTCATCT 0.438000 78 49 0 0 0.000781405 0 0 GRIN2B 2904 broad.mit.edu 37 12 14018747 14018747 + Missense_Mutation SNP C T T TCGA-EE-A3AC-06A-11D-A196-08 TCGA-EE-A3AC-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 883d623b-c427-4444-9ee3-66d18648130f f8f00311-8db5-4187-bcb8-5054d9fbdac3 g.chr12:14018747C>T uc001rbt.2 - 1 575 c.396G>A c.(394-396)atG>atA p.M132I NM_000834 NP_000825 Q13224 NMDE2_HUMAN Homo sapiens glutamate receptor, ionotropic, N-methyl D-aspartate 2B (GRIN2B), mRNA. 132 response to ethanol N-methyl-D-aspartate selective glutamate receptor complex|cell junction|outer membrane-bounded periplasmic space|postsynaptic membrane N-methyl-D-aspartate selective glutamate receptor activity|glycine binding|zinc ion binding NS(1)|breast(3)|central_nervous_system(5)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(3)|kidney(12)|large_intestine(12)|liver(1)|lung(70)|ovary(4)|prostate(6)|skin(10)|upper_aerodigestive_tract(5)|urinary_tract(1) 143 Felbamate(DB00949)|Haloperidol(DB00502)|L-Glutamic Acid(DB00142)|Loperamide(DB00836)|Memantine(DB01043) CTGCCATTATCATAGAGGAGC 0.502000 85 53 0 0 0.000781405 0 0 KDR 3791 broad.mit.edu 37 4 55956205 55956205 + Missense_Mutation SNP G A A rs148668147 TCGA-EE-A3AC-06A-11D-A196-08 TCGA-EE-A3AC-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 883d623b-c427-4444-9ee3-66d18648130f f8f00311-8db5-4187-bcb8-5054d9fbdac3 g.chr4:55956205G>A uc003has.3 - 22 3412 c.3110C>T c.(3109-3111)tCg>tTg p.S1037L KDR_uc003hat.1_Missense_Mutation_p.S1037L NM_002253 NP_002244 P35968 VGFR2_HUMAN Homo sapiens kinase insert domain receptor (a type III receptor tyrosine kinase) (KDR), mRNA. 1037 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|Hsp90 protein binding|growth factor 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) GTTCTTCTCCGATAAGAGGAT 0.423000 Mis """NSCLC, angiosarcoma""" TSP Lung(20;0.16) 42 23 0 0 0.000586117 0 0 CD3D 915 broad.mit.edu 37 11 118211228 118211228 + Missense_Mutation SNP C T T TCGA-EE-A3AC-06A-11D-A196-08 TCGA-EE-A3AC-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 883d623b-c427-4444-9ee3-66d18648130f f8f00311-8db5-4187-bcb8-5054d9fbdac3 g.chr11:118211228C>T uc001pss.1 - 1 273 c.136G>A c.(136-138)Gga>Aga p.G46R CD3D_uc001pst.1_Missense_Mutation_p.G46R|CD3D_uc021qrf.1_Intron NM_000732 NP_000723 P04234 CD3D_HUMAN Homo sapiens CD3d molecule, delta (CD3-TCR complex) (CD3D), transcript variant 1, mRNA. 46 T cell costimulation|T cell receptor signaling pathway|positive thymic T cell selection cytoplasm|integral to membrane protein heterodimerization activity large_intestine(1)|lung(4)|ovary(1)|prostate(1)|skin(2) 9 all_hematologic(175;0.046) Medulloblastoma(222;0.0425)|Breast(348;0.181)|all_hematologic(192;0.196)|all_neural(223;0.234) BRCA - Breast invasive adenocarcinoma(274;3.04e-05) CCCACCGTTCCCTCTACCCAT 0.448000 33 15 0 0 0.000422831 0 0 PDGFRB 5159 broad.mit.edu 37 5 149509527 149509527 + Missense_Mutation SNP G A A TCGA-EE-A3AC-06A-11D-A196-08 TCGA-EE-A3AC-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 883d623b-c427-4444-9ee3-66d18648130f f8f00311-8db5-4187-bcb8-5054d9fbdac3 g.chr5:149509527G>A uc003lro.3 - 9 1841 c.1372C>T c.(1372-1374)Cca>Tca p.P458S PDGFRB_uc010jhd.3_Missense_Mutation_p.P297S NM_002609 NP_002600 P09619 PGFRB_HUMAN Homo sapiens platelet-derived growth factor receptor, beta polypeptide (PDGFRB), mRNA. 458 Ig-like C2-type 5. aorta morphogenesis|cardiac myofibril assembly|hemopoiesis|metanephric glomerular capillary formation|metanephric glomerular mesangial cell proliferation involved in metanephros development|peptidyl-tyrosine phosphorylation|positive regulation of DNA biosynthetic process|positive regulation of ERK1 and ERK2 cascade|positive regulation of MAP kinase activity|positive regulation of calcium ion import|positive regulation of chemotaxis|positive regulation of metanephric mesenchymal cell migration by platelet-derived growth factor receptor-beta signaling pathway|positive regulation of mitosis|positive regulation of phosphatidylinositol 3-kinase cascade|positive regulation of reactive oxygen species metabolic process|positive regulation of smooth muscle cell migration|positive regulation of smooth muscle cell proliferation|protein autophosphorylation|regulation of actin cytoskeleton organization|retina vasculature development in camera-type eye|smooth muscle cell chemotaxis apical plasma membrane|cytoplasm|integral to plasma membrane|nucleus ATP binding|platelet activating factor receptor activity|platelet-derived growth factor beta-receptor activity|platelet-derived growth factor binding|platelet-derived growth factor receptor binding|vascular endothelial growth factor receptor activity breast(3)|central_nervous_system(5)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(9)|kidney(3)|large_intestine(12)|lung(20)|ovary(3)|prostate(3)|skin(3)|stomach(6)|urinary_tract(1) 75 all_hematologic(541;0.224) KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101) Becaplermin(DB00102)|Dasatinib(DB01254)|Imatinib(DB00619)|Sorafenib(DB00398)|Sunitinib(DB01268) AGCTCACGTGGACACCTGCCA 0.617000 T """ETV6, TRIP11, HIP1, RAB5EP, H4, NIN, HCMOGT-1, PDE4DIP""" """MPD, AML, CMML, CML""" OREG0016927 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 37 20 0 0 0.00229938 0 0 TRPC4AP 26133 broad.mit.edu 37 20 33592285 33592285 + Silent SNP G A A TCGA-EE-A3AC-06A-11D-A196-08 TCGA-EE-A3AC-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 883d623b-c427-4444-9ee3-66d18648130f f8f00311-8db5-4187-bcb8-5054d9fbdac3 g.chr20:33592285G>A uc002xbk.3 - 16 2059 c.2025C>T c.(2023-2025)atC>atT p.I675I TRPC4AP_uc002xbj.3_Non-coding_Transcript|TRPC4AP_uc010zuq.2_Silent_p.I266I|TRPC4AP_uc010zur.2_Silent_p.I636I|TRPC4AP_uc002xbl.3_Silent_p.I667I NM_015638 NP_056453 Q8TEL6 TP4AP_HUMAN Homo sapiens transient receptor potential cation channel, subfamily C, member 4 associated protein (TRPC4AP), transcript variant 1, mRNA. 675 protein ubiquitination|ubiquitin-dependent protein catabolic process Cul4A-RING ubiquitin ligase complex protein binding breast(3)|central_nervous_system(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(13)|skin(1)|stomach(1)|urinary_tract(1) 32 BRCA - Breast invasive adenocarcinoma(18;0.00936) GCACGTGGATGATGTTGATGA 0.592000 39 7 0 0 0.000442599 0 0 HMX3 340784 broad.mit.edu 37 10 124896586 124896587 + Missense_Mutation DNP CC TT TT TCGA-EE-A3AC-06A-11D-A196-08 TCGA-EE-A3AC-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 883d623b-c427-4444-9ee3-66d18648130f f8f00311-8db5-4187-bcb8-5054d9fbdac3 g.chr10:124896586_124896587CC>TT uc010quc.2 + 1 413_414 c.413_414CC>TT c.(412-414)gcc>gTT p.A138V NM_001105574 NP_001099044 A6NHT5 HMX3_HUMAN Homo sapiens H6 family homeobox 3 (HMX3), mRNA. 138 cell differentiation nucleus sequence-specific DNA binding transcription factor activity lung(4) 4 all_neural(114;0.0765)|Colorectal(57;0.102)|all_lung(145;0.11)|Lung NSC(174;0.163) Colorectal(40;0.122)|COAD - Colon adenocarcinoma(40;0.141) TCGGAGAAGGCCTTGCTGAGAG 0.673000 4 7 0 0 6.4e-05 0 0 CA4 762 broad.mit.edu 37 17 58234034 58234034 + Missense_Mutation SNP G A A TCGA-EE-A3AC-06A-11D-A196-08 TCGA-EE-A3AC-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 883d623b-c427-4444-9ee3-66d18648130f f8f00311-8db5-4187-bcb8-5054d9fbdac3 g.chr17:58234034G>A uc002iym.4 + 2 320 c.226G>A c.(226-228)Gat>Aat p.D76N CA4_uc010wou.2_Non-coding_Transcript NM_000717 NP_000708 P22748 CAH4_HUMAN Homo sapiens carbonic anhydrase IV (CA4), mRNA. 76 bicarbonate transport|one-carbon metabolic process ER-Golgi intermediate compartment|anchored to external side of plasma membrane|apical plasma membrane|brush border membrane|membrane fraction|perinuclear region of cytoplasm|rough endoplasmic reticulum|secretory granule membrane|trans-Golgi network|transport vesicle membrane carbonate dehydratase activity|protein binding|zinc ion binding kidney(1)|large_intestine(2)|lung(5)|ovary(1) 9 all_neural(34;0.0878)|Medulloblastoma(34;0.0922) Epithelial(12;3.83e-12)|all cancers(12;6.83e-11) Bendroflumethiazide(DB00436)|Benzthiazide(DB00562)|Chlorothiazide(DB00880)|Cyclothiazide(DB00606)|Diazoxide(DB01119)|Hydrochlorothiazide(DB00999)|Hydroflumethiazide(DB00774)|Methyclothiazide(DB00232)|Quinethazone(DB01325)|Topiramate(DB00273)|Trichlormethiazide(DB01021) CTCTGGCTACGATAAGAAGCA 0.572000 42 18 0 0 0.00229938 0 0 CCIN 881 broad.mit.edu 37 9 36170567 36170567 + Silent SNP C T T TCGA-EE-A3AC-06A-11D-A196-08 TCGA-EE-A3AC-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 883d623b-c427-4444-9ee3-66d18648130f f8f00311-8db5-4187-bcb8-5054d9fbdac3 g.chr9:36170567C>T uc003zzb.4 + 0 1179 c.1068C>T c.(1066-1068)acC>acT p.T356T NM_005893 NP_005884 Q13939 CALI_HUMAN Homo sapiens calicin (CCIN), mRNA. 356 cell differentiation|multicellular organismal development|spermatogenesis cytoskeletal calyx structural constituent of cytoskeleton breast(3)|endometrium(2)|large_intestine(4)|liver(2)|lung(5)|ovary(1)|skin(4) 21 STAD - Stomach adenocarcinoma(86;0.228) ACTCCTGGACCAAGTTGCCTG 0.582000 48 23 0 0 0.000375601 0 0 IGF2BP3 10643 broad.mit.edu 37 7 23391197 23391198 + Missense_Mutation DNP TC GT GT TCGA-EE-A3AC-06A-11D-A196-08 TCGA-EE-A3AC-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 883d623b-c427-4444-9ee3-66d18648130f f8f00311-8db5-4187-bcb8-5054d9fbdac3 g.chr7:23391197_23391198TC>GT uc003swg.3 - 5 675_676 c.409_410GA>AC c.(409-411)gac>ACc p.D137T NM_006547 NP_006538 O00425 IF2B3_HUMAN Homo sapiens insulin-like growth factor 2 mRNA binding protein 3 (IGF2BP3), mRNA. 137 RRM 2. anatomical structure morphogenesis|negative regulation of translation|translation cytosol|nucleus mRNA 3'-UTR binding|mRNA 5'-UTR binding|nucleotide binding|protein binding|translation regulator activity breast(1)|endometrium(1)|kidney(1)|large_intestine(8)|lung(14)|ovary(2)|prostate(2)|skin(4)|stomach(1) 34 ATTCAGTTTGTCTAGTGCTCTG 0.460000 38 14 0 0 6.4e-05 0 0 PVR 5817 broad.mit.edu 37 19 45150799 45150799 + Silent SNP C T T TCGA-EE-A3AC-06A-11D-A196-08 TCGA-EE-A3AC-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 883d623b-c427-4444-9ee3-66d18648130f f8f00311-8db5-4187-bcb8-5054d9fbdac3 g.chr19:45150799C>T uc002ozm.3 + 1 683 c.384C>T c.(382-384)ttC>ttT p.F128F PVR_uc010ejs.3_Silent_p.F128F|PVR_uc010xxb.2_Silent_p.F128F|PVR_uc010xxc.2_Silent_p.F128F|PVR_uc002ozn.3_Silent_p.F73F NM_006505 NP_006496 P15151 PVR_HUMAN Homo sapiens poliovirus receptor (PVR), transcript variant 1, mRNA. 128 Ig-like V-type. adherens junction organization|cell adhesion|cell junction assembly|interspecies interaction between organisms|positive regulation of natural killer cell mediated cytotoxicity directed against tumor cell target|susceptibility to T cell mediated cytotoxicity|susceptibility to natural killer cell mediated cytotoxicity cell junction|cell surface|cytoplasm|extracellular space|integral to membrane|nucleus cell adhesion molecule binding|receptor activity large_intestine(2)|lung(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 6 Lung NSC(12;0.00608)|all_lung(12;0.0148) Medulloblastoma(540;0.0425)|Ovarian(192;0.0728)|Prostate(69;0.081)|all_neural(266;0.112) Epithelial(262;0.000601) TCGTCACGTTCCCGCAGGGCA 0.607000 86 60 0 0 0.000781405 0 0 EIF2AK3 9451 broad.mit.edu 37 2 88895175 88895175 + Missense_Mutation SNP C A A TCGA-EE-A3AC-06A-11D-A196-08 TCGA-EE-A3AC-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 883d623b-c427-4444-9ee3-66d18648130f f8f00311-8db5-4187-bcb8-5054d9fbdac3 g.chr2:88895175C>A uc002stc.4 - 2 747 c.445G>T c.(445-447)Ggg>Tgg p.G149W NM_004836 NP_004827 Q9NZJ5 E2AK3_HUMAN Homo sapiens eukaryotic translation initiation factor 2-alpha kinase 3 (EIF2AK3), mRNA. 149 ER overload response|activation of caspase activity|bone mineralization|calcium-mediated signaling|chondrocyte development|endocrine pancreas development|endoplasmic reticulum organization|endoplasmic reticulum unfolded protein response|insulin secretion|insulin-like growth factor receptor signaling pathway|negative regulation of myelination|negative regulation of translational initiation in response to stress|protein autophosphorylation|protein homooligomerization endoplasmic reticulum membrane|integral to membrane ATP binding|eukaryotic translation initiation factor 2alpha kinase activity|identical protein binding ovary(3) 3 ATCTTATTCCCAAATACCTAA 0.363000 244 10 0.00136819 0.00618404 0.00136819 1 0 DTWD2 285605 broad.mit.edu 37 5 118176690 118176690 + Silent SNP T G G TCGA-EE-A3AC-06A-11D-A196-08 TCGA-EE-A3AC-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 883d623b-c427-4444-9ee3-66d18648130f f8f00311-8db5-4187-bcb8-5054d9fbdac3 g.chr5:118176690T>G uc003ksa.3 - 5 853 c.819A>C c.(817-819)ggA>ggC p.G273G NM_173666 NP_775937 Q8NBA8 DTWD2_HUMAN Homo sapiens DTW domain containing 2 (DTWD2), mRNA. 273 breast(1)|endometrium(2)|kidney(2)|large_intestine(4)|lung(4) 13 all_epithelial(76;0.0982)|Prostate(80;0.121) OV - Ovarian serous cystadenocarcinoma(64;0.000228)|Epithelial(69;0.000941)|all cancers(49;0.00939) TAGGATATAATCCATTTTTCA 0.383000 23 20 0 0 0.00121646 0 0 UCHL3 7347 broad.mit.edu 37 13 76169099 76169099 + Missense_Mutation SNP C T T TCGA-EE-A3AC-06A-11D-A196-08 TCGA-EE-A3AC-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 883d623b-c427-4444-9ee3-66d18648130f f8f00311-8db5-4187-bcb8-5054d9fbdac3 g.chr13:76169099C>T uc001vjq.3 + 6 553 c.523C>T c.(523-525)Cat>Tat p.H175Y NM_006002 NP_005993 P15374 UCHL3_HUMAN Homo sapiens ubiquitin carboxyl-terminal esterase L3 (ubiquitin thiolesterase) (UCHL3), mRNA. 175 ubiquitin-dependent protein catabolic process cytoplasm cysteine-type peptidase activity|ubiquitin binding|ubiquitin thiolesterase activity kidney(1)|large_intestine(2)|lung(3)|skin(1) 7 GBM - Glioblastoma multiforme(99;0.0125) TGCATTAGTTCATGTAGATGG 0.338000 174 99 0 0 0.000781405 0 0 USP9Y 8287 broad.mit.edu 37 Y 14848359 14848359 + Missense_Mutation SNP C T T TCGA-EE-A3AC-06A-11D-A196-08 TCGA-EE-A3AC-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 883d623b-c427-4444-9ee3-66d18648130f f8f00311-8db5-4187-bcb8-5054d9fbdac3 g.chrY:14848359C>T uc004fst.1 + 9 1985 c.1040C>T c.(1039-1041)tCc>tTc p.S347F USP9Y_uc010nwu.1_Non-coding_Transcript NM_004654 NP_004645 O00507 USP9Y_HUMAN Homo sapiens ubiquitin specific peptidase 9, Y-linked (USP9Y), mRNA. 347 BMP signaling pathway|protein deubiquitination|spermatogenesis|transforming growth factor beta receptor signaling pathway|ubiquitin-dependent protein catabolic process cytoplasm co-SMAD binding|ubiquitin thiolesterase activity|ubiquitin-specific protease activity kidney(1)|large_intestine(8)|lung(5)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 17 TTGCAAATTTCCTCTTTTAAT 0.294000 1 16 0 0 0.000566183 0 0 SOGA2 23255 broad.mit.edu 37 18 8784328 8784328 + Silent SNP C T T TCGA-EE-A3AC-06A-11D-A196-08 TCGA-EE-A3AC-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 883d623b-c427-4444-9ee3-66d18648130f f8f00311-8db5-4187-bcb8-5054d9fbdac3 g.chr18:8784328C>T uc002knr.2 + 5 1360 c.1218C>T c.(1216-1218)ccC>ccT p.P406P SOGA2_uc002knq.2_Silent_p.P406P|SOGA2_uc010dkw.1_Silent_p.P244P NM_015210 NP_056025 Q9Y4B5 CC165_HUMAN Homo sapiens coiled-coil domain containing 165 (CCDC165), mRNA. 757 TGCCCCAGCCCAAGCGGGAAG 0.672000 30 19 0 0 0.00188189 0 0 SLC14A1 6563 broad.mit.edu 37 18 43316460 43316460 + Missense_Mutation SNP A T T TCGA-EE-A3AC-06A-11D-A196-08 TCGA-EE-A3AC-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 883d623b-c427-4444-9ee3-66d18648130f f8f00311-8db5-4187-bcb8-5054d9fbdac3 g.chr18:43316460A>T uc010dnk.3 + 6 900 c.678A>T c.(676-678)aaA>aaT p.K226N SLC14A1_uc002lbi.4_Missense_Mutation_p.K38N|SLC14A1_uc010xcn.2_Missense_Mutation_p.K170N|SLC14A1_uc002lbf.4_Missense_Mutation_p.K170N|SLC14A1_uc002lbg.4_Intron|SLC14A1_uc010xco.2_Missense_Mutation_p.K65N|SLC14A1_uc002lbh.4_Missense_Mutation_p.K62N|SLC14A1_uc002lbj.4_Missense_Mutation_p.K226N|SLC14A1_uc002lbk.4_Missense_Mutation_p.K170N|SLC14A1_uc021ujg.1_Missense_Mutation_p.K170N NM_001128588 NP_056949 Q13336 UT1_HUMAN Homo sapiens solute carrier family 14 (urea transporter), member 1 (Kidd blood group) (SLC14A1), transcript variant 1, mRNA. 170 integral to plasma membrane urea transmembrane transporter activity central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(11)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1) 21 TGCTCAGCAAATGGGACCTCC 0.458000 59 50 0 0 0.000781405 0 0 OR6C2 341416 broad.mit.edu 37 12 55846409 55846409 + Missense_Mutation SNP G A A TCGA-EE-A3AC-06A-11D-A196-08 TCGA-EE-A3AC-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 883d623b-c427-4444-9ee3-66d18648130f f8f00311-8db5-4187-bcb8-5054d9fbdac3 g.chr12:55846409G>A uc001sgz.1 + 0 412 c.412G>A c.(412-414)Gtg>Atg p.V138M NM_054105 NP_473446 Q9NZP2 OR6C2_HUMAN Homo sapiens olfactory receptor, family 6, subfamily C, member 2 (OR6C2), mRNA. 138 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity kidney(2)|large_intestine(5)|lung(8)|prostate(1)|skin(5)|upper_aerodigestive_tract(2) 23 GAACAACAGGGTGTGTACCTT 0.468000 33 15 0 0 0.000308642 0 0 AP2M1 1173 broad.mit.edu 37 3 183899730 183899730 + Silent SNP C T T TCGA-EE-A3AC-06A-11D-A196-08 TCGA-EE-A3AC-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 883d623b-c427-4444-9ee3-66d18648130f f8f00311-8db5-4187-bcb8-5054d9fbdac3 g.chr3:183899730C>T uc021xig.1 + 7 901 c.858C>T c.(856-858)ccC>ccT p.P286P AP2M1_uc003fmw.3_Silent_p.P284P|AP2M1_uc021xif.1_Silent_p.P102P|AP2M1_uc011bqy.2_Silent_p.P156P|AP2M1_uc011bqz.2_Silent_p.P102P NM_004068 NP_004059 Q96CW1 AP2M1_HUMAN Homo sapiens adaptor-related protein complex 2, mu 1 subunit (AP2M1), transcript variant 1, mRNA. 286 MHD. axon guidance|cellular membrane organization|epidermal growth factor receptor signaling pathway|intracellular protein transport|negative regulation of epidermal growth factor receptor signaling pathway|nerve growth factor receptor signaling pathway|regulation of defense response to virus by virus|synaptic transmission|vesicle-mediated transport|viral reproduction clathrin adaptor complex|clathrin coat of coated pit|cytosol|endocytic vesicle membrane|peroxisomal membrane lipid binding|protein binding|transporter activity endometrium(1)|large_intestine(4)|lung(10)|prostate(1)|skin(1)|urinary_tract(1) 18 all_cancers(143;1.12e-10)|Ovarian(172;0.0339) Epithelial(37;2.92e-34)|OV - Ovarian serous cystadenocarcinoma(80;2.72e-22) TCATCCTTCCCTTCCGGGTGA 0.537000 20 12 0 0 0.00185496 0 0 NBEAL2 23218 broad.mit.edu 37 3 47045731 47045731 + Nonsense_Mutation SNP C T T TCGA-EE-A3AC-06A-11D-A196-08 TCGA-EE-A3AC-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 883d623b-c427-4444-9ee3-66d18648130f f8f00311-8db5-4187-bcb8-5054d9fbdac3 g.chr3:47045731C>T uc003cqp.3 + 36 6225 c.6046C>T c.(6046-6048)Cag>Tag p.Q2016* NBEAL2_uc010hjm.2_Nonsense_Mutation_p.Q1393*|NBEAL2_uc010hjn.2_Nonsense_Mutation_p.Q412* NM_015175 NP_055990 Q6ZNJ1 NBEL2_HUMAN Homo sapiens neurobeachin-like 2 (NBEAL2), mRNA. 2016 binding NS(1)|breast(1)|central_nervous_system(3)|cervix(2)|endometrium(8)|kidney(5)|large_intestine(9)|lung(9)|ovary(4)|pancreas(1)|prostate(3)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1) 51 Acute lymphoblastic leukemia(5;0.0534) BRCA - Breast invasive adenocarcinoma(193;0.0012)|KIRC - Kidney renal clear cell carcinoma(197;0.00575)|Kidney(197;0.00656) ATCTCCTAGCCAGACTCCCAG 0.607000 104 41 0 0 0.000781405 0 0 DDX10 1662 broad.mit.edu 37 11 108712144 108712144 + Nonsense_Mutation SNP C T T TCGA-EE-A3AC-06A-11D-A196-08 TCGA-EE-A3AC-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 883d623b-c427-4444-9ee3-66d18648130f f8f00311-8db5-4187-bcb8-5054d9fbdac3 g.chr11:108712144C>T uc001pkm.3 + 14 2253 c.2188C>T c.(2188-2190)Cag>Tag p.Q730* DDX10_uc001pkl.1_Nonsense_Mutation_p.Q730* NM_004398 NP_004389 Q13206 DDX10_HUMAN Homo sapiens DEAD (Asp-Glu-Ala-Asp) box polypeptide 10 (DDX10), mRNA. 730 ATP binding|ATP-dependent helicase activity|RNA binding|RNA helicase activity breast(2)|endometrium(5)|kidney(2)|large_intestine(4)|lung(11)|pancreas(1)|prostate(2) 27 all_cancers(61;1.29e-11)|all_epithelial(67;2.96e-07)|Melanoma(852;1.54e-05)|Acute lymphoblastic leukemia(157;4.24e-05)|all_hematologic(158;0.000141)|Breast(348;0.026)|all_neural(223;0.0729) BRCA - Breast invasive adenocarcinoma(274;2.48e-05)|Epithelial(105;4.35e-05)|all cancers(92;0.000609)|OV - Ovarian serous cystadenocarcinoma(223;0.133) GGAAAGACTTCAGGAAGAGGA 0.383000 T NUP98 AML* 38 19 0 0 0.00188189 0 0 TARBP1 6894 broad.mit.edu 37 1 234565323 234565323 + Missense_Mutation SNP G A A TCGA-EE-A3AC-06A-11D-A196-08 TCGA-EE-A3AC-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 883d623b-c427-4444-9ee3-66d18648130f f8f00311-8db5-4187-bcb8-5054d9fbdac3 g.chr1:234565323G>A uc001hwd.3 - 15 2710 c.2710C>T c.(2710-2712)Cac>Tac p.H904Y NM_005646 NP_005637 Q13395 TARB1_HUMAN Homo sapiens TAR (HIV-1) RNA binding protein 1 (TARBP1), mRNA. 904 RNA processing|regulation of transcription from RNA polymerase II promoter nucleus RNA binding|RNA methyltransferase activity NS(1)|breast(1)|central_nervous_system(1)|endometrium(5)|kidney(7)|large_intestine(6)|lung(22)|ovary(3)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(4) 55 Ovarian(103;0.0339) all_cancers(173;0.00995)|Prostate(94;0.0115)|all_epithelial(177;0.172) OV - Ovarian serous cystadenocarcinoma(106;0.000263) ATAAGGGTGTGATATTTTTTC 0.433000 86 38 0 0 0.00195071 0 0 MPZ 4359 broad.mit.edu 37 1 161275677 161275677 + Missense_Mutation SNP C T T TCGA-EE-A3AC-06A-11D-A196-08 TCGA-EE-A3AC-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 883d623b-c427-4444-9ee3-66d18648130f f8f00311-8db5-4187-bcb8-5054d9fbdac3 g.chr1:161275677C>T uc001gaf.4 - 5 803 c.736G>A c.(736-738)Gat>Aat p.D246N NM_000530 NP_000521 P25189 MYP0_HUMAN Homo sapiens myelin protein zero (MPZ), mRNA. 246 synaptic transmission integral to plasma membrane structural molecule activity central_nervous_system(1)|large_intestine(2)|lung(1)|ovary(2)|pancreas(1)|prostate(1)|skin(1)|urinary_tract(1) 10 all_cancers(52;6.96e-17)|all_hematologic(112;0.093) Breast(1374;0.181) BRCA - Breast invasive adenocarcinoma(70;0.00376) TATTTCTTATCCTTGCGAGAC 0.597000 72 18 0 0 0.00229938 0 0 ATP2B4 493 broad.mit.edu 37 1 203678659 203678659 + Silent SNP C T T rs150320737 TCGA-EE-A3AC-06A-11D-A196-08 TCGA-EE-A3AC-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 883d623b-c427-4444-9ee3-66d18648130f f8f00311-8db5-4187-bcb8-5054d9fbdac3 g.chr1:203678659C>T uc001gzw.3 + 10 2685 c.1788C>T c.(1786-1788)atC>atT p.I596I ATP2B4_uc001gzv.3_Silent_p.I596I|ATP2B4_uc009xaq.3_Silent_p.I596I NM_001684 NP_001675 P23634 AT2B4_HUMAN Homo sapiens ATPase, Ca++ transporting, plasma membrane 4 (ATP2B4), transcript variant 2, mRNA. 596 ATP biosynthetic process|platelet activation integral to plasma membrane ATP binding|calcium-transporting ATPase activity|calmodulin binding|metal ion binding|protein binding NS(1)|breast(1)|central_nervous_system(2)|cervix(2)|endometrium(5)|kidney(2)|large_intestine(10)|lung(20)|ovary(2)|prostate(6)|skin(1)|stomach(1)|urinary_tract(3) 56 all_cancers(21;0.071)|all_epithelial(62;0.228) BRCA - Breast invasive adenocarcinoma(75;0.109) CCTCTGAGATCATCTTGCGCA 0.542000 31 34 0 0 0.00111076 0 0 EDEM3 80267 broad.mit.edu 37 1 184677385 184677385 + Missense_Mutation SNP G A A TCGA-EE-A3AC-06A-11D-A196-08 TCGA-EE-A3AC-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 883d623b-c427-4444-9ee3-66d18648130f f8f00311-8db5-4187-bcb8-5054d9fbdac3 g.chr1:184677385G>A uc010pom.2 - 16 2200 c.1939C>T c.(1939-1941)Cca>Tca p.P647S EDEM3_uc010pok.2_Missense_Mutation_p.P647S|EDEM3_uc010pol.2_Non-coding_Transcript NM_025191 NP_079467 Q9BZQ6 EDEM3_HUMAN Homo sapiens ER degradation enhancer, mannosidase alpha-like 3 (EDEM3), mRNA. 647 post-translational protein modification|protein N-linked glycosylation via asparagine|protein folding|response to unfolded protein endoplasmic reticulum lumen|endoplasmic reticulum membrane calcium ion binding|mannosyl-oligosaccharide 1,2-alpha-mannosidase activity|misfolded protein binding breast(1)|endometrium(3)|kidney(1)|large_intestine(7)|lung(14)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1) 30 ACAGCTCGTGGAGGCAGCTGC 0.458000 23 12 0 0 0.000978159 0 0 C20orf26 26074 broad.mit.edu 37 20 20037439 20037439 + Splice_Site SNP C T T TCGA-EE-A3AC-06A-11D-A196-08 TCGA-EE-A3AC-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 883d623b-c427-4444-9ee3-66d18648130f f8f00311-8db5-4187-bcb8-5054d9fbdac3 g.chr20:20037439C>T uc002wru.3 + 2 257 c.143_splice c.e2+1 p.L48_splice C20orf26_uc010gcw.2_Intron|C20orf26_uc010zse.2_Splice_Site_p.L48_splice|C20orf26_uc010zsf.1_Splice_Site_p.L48_splice|CRNKL1_uc002wrs.3_5'Flank|CRNKL1_uc002wrt.1_5'Flank NM_015585 NP_056400 Q8NHU2 CT026_HUMAN Homo sapiens chromosome 20 open reading frame 26 (C20orf26), transcript variant 1, mRNA. 48 NS(2)|breast(3)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(11)|lung(42)|ovary(3)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1) 77 READ - Rectum adenocarcinoma(2;0.171) CATCTATCTTCTGTAAGTAGA 0.388000 61 38 0 0 0.00128727 0 0 MYOM3 127294 broad.mit.edu 37 1 24383875 24383876 + Missense_Mutation DNP GG AA AA TCGA-EE-A3AC-06A-11D-A196-08 TCGA-EE-A3AC-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 883d623b-c427-4444-9ee3-66d18648130f f8f00311-8db5-4187-bcb8-5054d9fbdac3 g.chr1:24383875_24383876GG>AA uc001bin.4 - 36 4455_4456 c.4292_4293CC>TT c.(4291-4293)ccc>cTT p.P1431L MYOM3_uc001bil.4_Missense_Mutation_p.P324L|MYOM3_uc001bim.4_Missense_Mutation_p.P1088L NM_152372 NP_689585 Q5VTT5 MYOM3_HUMAN Homo sapiens myomesin family, member 3 (MYOM3), mRNA. 1431 NS(2)|breast(2)|central_nervous_system(1)|endometrium(5)|kidney(6)|large_intestine(3)|lung(40)|ovary(2)|prostate(1)|skin(4)|urinary_tract(2) 68 Colorectal(325;3.55e-05)|Renal(390;0.000703)|Lung NSC(340;0.001)|all_lung(284;0.0014)|Ovarian(437;0.00351)|Breast(348;0.0126)|Myeloproliferative disorder(586;0.0255) UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|OV - Ovarian serous cystadenocarcinoma(117;5.31e-24)|Colorectal(126;7.52e-08)|COAD - Colon adenocarcinoma(152;4.01e-06)|GBM - Glioblastoma multiforme(114;4.36e-06)|BRCA - Breast invasive adenocarcinoma(304;0.00108)|KIRC - Kidney renal clear cell carcinoma(1967;0.00404)|STAD - Stomach adenocarcinoma(196;0.00966)|READ - Rectum adenocarcinoma(331;0.0678)|Lung(427;0.153) TCAGCTCCTTGGGCTCGTCCCC 0.574000 22 20 0 0 6.4e-05 0 0 CCDC73 493860 broad.mit.edu 37 11 32635300 32635300 + Missense_Mutation SNP C T T TCGA-EE-A3AC-06A-11D-A196-08 TCGA-EE-A3AC-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 883d623b-c427-4444-9ee3-66d18648130f f8f00311-8db5-4187-bcb8-5054d9fbdac3 g.chr11:32635300C>T uc001mtv.3 - 15 2608 c.2564G>A c.(2563-2565)gGa>gAa p.G855E NM_001008391 NP_001008392 Q6ZRK6 CCD73_HUMAN Homo sapiens coiled-coil domain containing 73 (CCDC73), mRNA. 855 NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(9)|lung(20)|ovary(2)|prostate(2)|skin(2)|stomach(1)|urinary_tract(2) 51 Breast(20;0.112) GAACATTTTTCCTGAAACAAT 0.348000 69 38 0 0 0.00128727 0 0 GRM8 2918 broad.mit.edu 37 7 126173045 126173045 + Silent SNP G A A TCGA-EE-A3AC-06A-11D-A196-08 TCGA-EE-A3AC-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 883d623b-c427-4444-9ee3-66d18648130f f8f00311-8db5-4187-bcb8-5054d9fbdac3 g.chr7:126173045G>A uc003vlr.2 - 7 2702 c.2391C>T c.(2389-2391)ttC>ttT p.F797F GRM8_uc003vls.2_Non-coding_Transcript|GRM8_uc011kof.1_Non-coding_Transcript|GRM8_uc003vlt.2_Silent_p.F797F|GRM8_uc010lkz.1_Non-coding_Transcript NM_000845 NP_000836 O00222 GRM8_HUMAN Homo sapiens glutamate receptor, metabotropic 8 (GRM8), transcript variant 1, mRNA. 797 negative regulation of cAMP biosynthetic process|sensory perception of smell|visual perception integral to plasma membrane breast(3)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(4)|large_intestine(16)|lung(62)|ovary(5)|pancreas(1)|prostate(1)|skin(14)|stomach(1)|upper_aerodigestive_tract(6)|urinary_tract(4) 125 Prostate(267;0.186) L-Glutamic Acid(DB00142) AGATGGGGATGAAAGCTAACC 0.393000 HNSCC(24;0.065) 22 15 0 0 0.000566183 0 0 MYO18B 84700 broad.mit.edu 37 22 26422964 26422964 + Missense_Mutation SNP G A A TCGA-EE-A3AC-06A-11D-A196-08 TCGA-EE-A3AC-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 883d623b-c427-4444-9ee3-66d18648130f f8f00311-8db5-4187-bcb8-5054d9fbdac3 g.chr22:26422964G>A uc003abz.1 + 42 7274 c.7024G>A c.(7024-7026)Gaa>Aaa p.E2342K MYO18B_uc003aca.1_Missense_Mutation_p.E2223K|MYO18B_uc010guy.1_Missense_Mutation_p.E2224K|MYO18B_uc010guz.1_Missense_Mutation_p.E2222K|MYO18B_uc011aka.1_Missense_Mutation_p.E1496K|MYO18B_uc011akb.1_Missense_Mutation_p.E1855K|MYO18B_uc010gva.1_Missense_Mutation_p.E325K|MYO18B_uc010gvb.1_Non-coding_Transcript NM_032608 NP_115997 Q8IUG5 MY18B_HUMAN Homo sapiens myosin XVIIIB (MYO18B), mRNA. 2342 nucleus|sarcomere|unconventional myosin complex ATP binding|actin binding|motor activity NS(2)|breast(6)|central_nervous_system(3)|endometrium(12)|haematopoietic_and_lymphoid_tissue(4)|kidney(5)|large_intestine(27)|liver(2)|lung(60)|ovary(7)|prostate(8)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(2) 146 CCTACTCCCCGAAAAGTCGAA 0.562000 33 27 0 0 0.00106085 0 0 ZNF208 7757 broad.mit.edu 37 19 22155441 22155441 + Missense_Mutation SNP G A A TCGA-EE-A3AC-06A-11D-A196-08 TCGA-EE-A3AC-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 883d623b-c427-4444-9ee3-66d18648130f f8f00311-8db5-4187-bcb8-5054d9fbdac3 g.chr19:22155441G>A uc021urr.1 - 3 2544 c.2395C>T c.(2395-2397)Cat>Tat p.H799Y ZNF208_uc002nqo.1_Intron NM_007153 NP_009084 Homo sapiens zinc finger protein 208 (ZNF208), mRNA. breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(18)|liver(1)|lung(71)|ovary(6)|prostate(3)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1) 113 all_lung(12;0.0961)|Lung NSC(12;0.103) TCATCAGTATGAATTCTCTTA 0.358000 18 11 0 0 0.00136819 0 0 DL492607 0 broad.mit.edu 37 11 113661217 113661217 + RNA SNP G A A TCGA-EE-A3AC-06A-11D-A196-08 TCGA-EE-A3AC-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 883d623b-c427-4444-9ee3-66d18648130f f8f00311-8db5-4187-bcb8-5054d9fbdac3 g.chr11:113661217G>A uc001pof.1 + 0 c.1265G>A Homo sapiens cDNA FLJ36034 fis, clone TESTI2017107, highly similar to CYCLIC-AMP-DEPENDENT TRANSCRIPTION FACTOR ATF-4. GGGCTTCTCCGAATGGCTGGC 0.522000 18 11 0 0 0.000978159 0 0 CWC15 51503 broad.mit.edu 37 11 94705258 94705258 + Missense_Mutation SNP G A A TCGA-EE-A3AC-06A-11D-A196-08 TCGA-EE-A3AC-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 883d623b-c427-4444-9ee3-66d18648130f f8f00311-8db5-4187-bcb8-5054d9fbdac3 g.chr11:94705258G>A uc001pfd.4 - 1 215 c.92C>T c.(91-93)tCa>tTa p.S31L CWC15_uc009ywl.1_Missense_Mutation_p.S31L|KDM4D_uc001pfe.3_5'Flank NM_016403 NP_057487 Q9P013 CWC15_HUMAN Homo sapiens CWC15 spliceosome-associated protein homolog (S. cerevisiae) (CWC15), mRNA. 31 nuclear mRNA splicing, via spliceosome catalytic step 2 spliceosome RNA binding|protein binding Acute lymphoblastic leukemia(157;2.31e-05)|all_hematologic(158;0.00824) GTCTCTGCTTGAATACTGCTT 0.413000 105 72 0 0 0.000781405 0 0 PCDHB2 56133 broad.mit.edu 37 5 140476702 140476702 + Silent SNP C T T TCGA-EE-A3AC-06A-11D-A196-08 TCGA-EE-A3AC-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 883d623b-c427-4444-9ee3-66d18648130f f8f00311-8db5-4187-bcb8-5054d9fbdac3 g.chr5:140476702C>T uc003lil.3 + 0 2466 c.2328C>T c.(2326-2328)ttC>ttT p.F776F PCDHB2_uc003lim.1_Silent_p.F437F NM_018936 NP_061759 Q9Y5E7 PCDB2_HUMAN Homo sapiens protocadherin beta 2 (PCDHB2), mRNA. 776 calcium-dependent cell-cell adhesion|homophilic cell adhesion|synapse assembly|synaptic transmission integral to plasma membrane calcium ion binding NS(1)|breast(1)|endometrium(3)|kidney(1)|large_intestine(22)|lung(24)|ovary(3)|pancreas(1)|prostate(3)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(2) 71 KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339) TCCCCAACTTCGTTGCTCAGG 0.507000 49 35 0 0 0.000781405 0 0 TAS2R40 259286 broad.mit.edu 37 7 142919714 142919714 + Silent SNP G A A TCGA-EE-A3AC-06A-11D-A196-08 TCGA-EE-A3AC-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 883d623b-c427-4444-9ee3-66d18648130f f8f00311-8db5-4187-bcb8-5054d9fbdac3 g.chr7:142919714G>A uc011ksx.2 + 0 543 c.543G>A c.(541-543)acG>acA p.T181T NM_176882 NP_795363 P59535 T2R40_HUMAN Homo sapiens taste receptor, type 2, member 40 (TAS2R40), mRNA. 181 sensory perception of taste integral to membrane G-protein coupled receptor activity p.T181T(2) kidney(1)|large_intestine(1)|lung(4)|ovary(1)|prostate(1) 8 Melanoma(164;0.059) CCAACTCCACGGAGAAGAAGT 0.458000 49 35 0 0 0.000953801 0 0 COL17A1 1308 broad.mit.edu 37 10 105797396 105797396 + Missense_Mutation SNP C T T rs147631156 byFrequency TCGA-EE-A3AC-06A-11D-A196-08 TCGA-EE-A3AC-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 883d623b-c427-4444-9ee3-66d18648130f f8f00311-8db5-4187-bcb8-5054d9fbdac3 g.chr10:105797396C>T uc001kxr.3 - 45 3375 c.3206G>A c.(3205-3207)cGg>cAg p.R1069Q NM_000494 NP_000485 Q9UMD9 COHA1_HUMAN Homo sapiens collagen, type XVII, alpha 1 (COL17A1), mRNA. 1069 Triple-helical region. cell-matrix adhesion|epidermis development|hemidesmosome assembly basement membrane|cell-cell junction|collagen|hemidesmosome|integral to plasma membrane protein binding NS(1)|breast(2)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(9)|liver(1)|lung(22)|ovary(5)|pancreas(1)|prostate(3)|skin(6)|upper_aerodigestive_tract(1) 62 Colorectal(252;0.103)|Breast(234;0.122) Epithelial(162;2.5e-09)|all cancers(201;7.94e-08)|BRCA - Breast invasive adenocarcinoma(275;0.0165) GGGCTTACTCCGTAAGTAGCT 0.602000 44 27 0 0 0.001512 0 0 PLAGL1 5325 broad.mit.edu 37 6 144269140 144269140 + Missense_Mutation SNP G A A TCGA-EE-A3AC-06A-11D-A196-08 TCGA-EE-A3AC-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 883d623b-c427-4444-9ee3-66d18648130f f8f00311-8db5-4187-bcb8-5054d9fbdac3 g.chr6:144269140G>A uc003qjv.3 - 1 1400 c.134C>T c.(133-135)tCc>tTc p.S45F PLAGL1_uc003qjx.3_Missense_Mutation_p.S45F|PLAGL1_uc003qjy.3_Missense_Mutation_p.S45F|PLAGL1_uc010khl.3_Missense_Mutation_p.S45F|PLAGL1_uc010khm.3_Missense_Mutation_p.S45F|PLAGL1_uc003qjz.3_Missense_Mutation_p.S45F|PLAGL1_uc003qka.3_Missense_Mutation_p.S45F|PLAGL1_uc003qkb.3_Intron|PLAGL1_uc003qkc.3_Missense_Mutation_p.S45F|PLAGL1_uc003qkd.3_Intron|PLAGL1_uc003qke.3_Missense_Mutation_p.S45F|PLAGL1_uc003qkf.3_Missense_Mutation_p.S45F|PLAGL1_uc003qkg.3_Intron|PLAGL1_uc003qkh.3_Missense_Mutation_p.S45F|PLAGL1_uc003qki.3_Intron|PLAGL1_uc003qkj.3_Missense_Mutation_p.S45F|PLAGL1_uc003qkk.3_Intron|PLAGL1_uc003qkl.3_Intron|PLAGL1_uc003qkm.3_Missense_Mutation_p.S45F|PLAGL1_uc010khn.3_Missense_Mutation_p.S45F|PLAGL1_uc003qkn.3_Intron|PLAGL1_uc003qko.3_Missense_Mutation_p.S45F|PLAGL1_uc003qkp.3_Intron|PLAGL1_uc003qjw.3_Intron NM_002656 NP_002647 Q9UM63 PLAL1_HUMAN Homo sapiens pleiomorphic adenoma gene-like 1 (PLAGL1), transcript variant 1, mRNA. 45 cell cycle arrest|induction of apoptosis|positive regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent nucleus DNA binding|zinc ion binding endometrium(1)|large_intestine(4)|lung(2)|prostate(1)|skin(3)|stomach(2) 13 OV - Ovarian serous cystadenocarcinoma(155;5.74e-07)|GBM - Glioblastoma multiforme(68;0.0885) TTTATATCTGGAAACAAAGGC 0.478000 51 115 0 0 0.000781405 0 0 GTF3C1 2975 broad.mit.edu 37 16 27499546 27499546 + Splice_Site SNP A G G TCGA-EE-A3AC-06A-11D-A196-08 TCGA-EE-A3AC-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 883d623b-c427-4444-9ee3-66d18648130f f8f00311-8db5-4187-bcb8-5054d9fbdac3 g.chr16:27499546A>G uc002dov.2 - 23 3740 c.3700_splice c.e23+1 p.G1234_splice GTF3C1_uc002dou.3_Splice_Site_p.G1234_splice NM_001520 NP_001511 Q12789 TF3C1_HUMAN Homo sapiens general transcription factor IIIC, polypeptide 1, alpha 220kDa (GTF3C1), mRNA. 1234 transcription factor TFIIIC complex DNA binding|protein binding breast(2)|central_nervous_system(4)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(14)|liver(3)|lung(28)|ovary(2)|pancreas(1)|prostate(2)|skin(5)|upper_aerodigestive_tract(2) 80 TCACCACATAACCTTTCTTCT 0.532000 75 39 0 0 0.00195071 0 0 TGM5 9333 broad.mit.edu 37 15 43552317 43552317 + Silent SNP G A A TCGA-EE-A3AC-06A-11D-A196-08 TCGA-EE-A3AC-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 883d623b-c427-4444-9ee3-66d18648130f f8f00311-8db5-4187-bcb8-5054d9fbdac3 g.chr15:43552317G>A uc001zrd.2 - 2 377 c.369C>T c.(367-369)tcC>tcT p.S123S TGM5_uc001zre.2_Intron NM_201631 NP_963925 O43548 TGM5_HUMAN Homo sapiens transglutaminase 5 (TGM5), transcript variant 1, mRNA. 123 epidermis development|peptide cross-linking cytoplasm acyltransferase activity|metal ion binding|protein-glutamine gamma-glutamyltransferase activity p.D122N(1) central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(5)|large_intestine(11)|lung(15)|skin(6)|urinary_tract(1) 44 all_cancers(109;1.37e-14)|all_epithelial(112;1.26e-12)|Lung NSC(122;2.46e-08)|all_lung(180;2.75e-07)|Melanoma(134;0.0476)|Colorectal(260;0.216) GBM - Glioblastoma multiforme(94;4e-07) L-Glutamine(DB00130) ACCCCTGGAAGGAGTCGATGT 0.622000 44 43 0 0 0.000781405 0 0 FCAR 2204 broad.mit.edu 37 19 55399441 55399441 + Silent SNP C T T TCGA-EE-A3AC-06A-11D-A196-08 TCGA-EE-A3AC-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 883d623b-c427-4444-9ee3-66d18648130f f8f00311-8db5-4187-bcb8-5054d9fbdac3 g.chr19:55399441C>T uc002qhr.1 + 3 626 c.429C>T c.(427-429)tcC>tcT p.S143S FCAR_uc021vbp.1_Non-coding_Transcript|FCAR_uc002qhq.3_Silent_p.S143S|FCAR_uc002qhs.1_Intron|FCAR_uc002qht.1_Silent_p.S116S|FCAR_uc010esi.1_Intron|FCAR_uc002qhu.1_Intron|FCAR_uc002qhv.1_Silent_p.S143S|FCAR_uc002qhw.1_Silent_p.S131S|FCAR_uc002qhx.1_Intron|FCAR_uc002qhy.1_Silent_p.S131S|FCAR_uc002qhz.1_Silent_p.S131S|FCAR_uc002qia.1_Silent_p.S34S NM_002000 NP_001991 P24071 FCAR_HUMAN Homo sapiens Fc fragment of IgA, receptor for (FCAR), transcript variant 1, mRNA. 143 Ig-like C2-type 2. immune response extracellular region|integral to plasma membrane IgA binding|receptor activity breast(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(14)|ovary(1)|skin(2) 24 GBM - Glioblastoma multiforme(193;0.0443) AGAATATTTCCCTCACGTGCA 0.502000 34 15 0 0 0.000422831 0 0 AGAP11 119385 broad.mit.edu 37 10 88769041 88769041 + Silent SNP G A A TCGA-EE-A3AC-06A-11D-A196-08 TCGA-EE-A3AC-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 883d623b-c427-4444-9ee3-66d18648130f f8f00311-8db5-4187-bcb8-5054d9fbdac3 g.chr10:88769041G>A uc001kee.2 + 11 2236 c.1032G>A c.(1030-1032)gtG>gtA p.V344V AGAP11_uc001kef.3_Intron NM_133447 NP_597704 Q8TF27 AGA11_HUMAN Homo sapiens ankyrin repeat and GTPase domain Arf GTPase activating protein 11 (AGAP11), mRNA. 344 Arf-GAP. regulation of ARF GTPase activity ARF GTPase activator activity|zinc ion binding CCCACTGCGTGGACTGTGAGA 0.542000 128 60 0 0 0.000781405 0 0 TRAPPC9 83696 broad.mit.edu 37 8 140922496 140922496 + Silent SNP G A A TCGA-EE-A3AC-06A-11D-A196-08 TCGA-EE-A3AC-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 883d623b-c427-4444-9ee3-66d18648130f f8f00311-8db5-4187-bcb8-5054d9fbdac3 g.chr8:140922496G>A uc003yvh.2 - 19 3168 c.3153C>T c.(3151-3153)tcC>tcT p.S1051S TRAPPC9_uc003yvj.2_Silent_p.S953S|TRAPPC9_uc010mel.1_Silent_p.S374S|TRAPPC9_uc003yvi.1_Silent_p.S944S NM_031466 NP_001153844 Q96Q05 TPPC9_HUMAN Homo sapiens trafficking protein particle complex 9 (TRAPPC9), transcript variant 1, mRNA. 953 cell differentiation Golgi apparatus|endoplasmic reticulum breast(4)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|liver(1)|lung(16)|ovary(2)|prostate(1)|skin(4)|upper_aerodigestive_tract(3) 47 TCTCCCCAGGGGACTCCGGGA 0.537000 34 20 0 0 0.00188189 0 0 PCDHAC2 56134 broad.mit.edu 37 5 140348166 140348166 + Silent SNP C T T TCGA-EE-A3AC-06A-11D-A196-08 TCGA-EE-A3AC-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 883d623b-c427-4444-9ee3-66d18648130f f8f00311-8db5-4187-bcb8-5054d9fbdac3 g.chr5:140348166C>T uc003lii.3 + 0 2420 c.1815C>T c.(1813-1815)acC>acT p.T605T PCDHAC2_uc003lha.2_Intron|PCDHAC2_uc003lhb.2_Intron|PCDHAC2_uc003lhd.2_Intron|PCDHAC2_uc003lhf.2_Intron|PCDHAC2_uc003lhh.1_Intron|PCDHAC2_uc003lhi.2_Intron|PCDHAC2_uc003lhl.2_Intron|PCDHAC2_uc003lhk.1_Intron|PCDHAC2_uc003lho.2_Intron|PCDHAC2_uc003lhn.2_Intron|PCDHAC2_uc003lhq.2_Intron|PCDHAC2_uc003lhs.2_Intron|PCDHAC2_uc003lhu.2_Intron|PCDHAC2_uc003lhw.2_Intron|PCDHAC2_uc003lhx.2_Intron|PCDHAC2_uc003lia.2_Intron|PCDHAC2_uc003lic.2_Intron|PCDHAC2_uc003lif.2_Intron|PCDHAC2_uc003lie.1_Intron|PCDHAC2_uc003lih.2_Intron|PCDHAC2_uc011dag.2_Silent_p.T605T NM_018899 NP_061722 Q9Y5I4 PCDC2_HUMAN Homo sapiens protocadherin alpha subfamily C, 2 (PCDHAC2), transcript variant 1, mRNA. 605 Cadherin 6. homophilic cell adhesion|nervous system development integral to plasma membrane calcium ion binding p.T605T(2) NS(1)|breast(1)|endometrium(4)|kidney(4)|large_intestine(10)|liver(2)|lung(9)|ovary(2)|prostate(1)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(1) 45 KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191) ACCTGGTCACCAAAGTCATAG 0.517000 40 18 0 0 0.00152264 0 0 CYP4A11 1579 broad.mit.edu 37 1 47402415 47402415 + Missense_Mutation SNP C T T rs148717576 TCGA-EE-A3AC-06A-11D-A196-08 TCGA-EE-A3AC-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 883d623b-c427-4444-9ee3-66d18648130f f8f00311-8db5-4187-bcb8-5054d9fbdac3 g.chr1:47402415C>T uc001cqp.4 - 3 482 c.431G>A c.(430-432)cGg>cAg p.R144Q CYP4A11_uc001cqq.2_Missense_Mutation_p.R144Q|CYP4A11_uc010omm.1_Non-coding_Transcript NM_000778 NP_000769 Q02928 CP4AB_HUMAN Homo sapiens cytochrome P450, family 4, subfamily A, polypeptide 11 (CYP4A11), mRNA. 144 long-chain fatty acid metabolic process|xenobiotic metabolic process endoplasmic reticulum membrane|microsome alkane 1-monooxygenase activity|electron carrier activity|heme binding|oxygen binding endometrium(2)|kidney(5)|large_intestine(6)|lung(6)|ovary(5)|prostate(3)|skin(6)|soft_tissue(1)|upper_aerodigestive_tract(2) 36 NADH(DB00157) GGTCAGCATCCGTCGATGCTG 0.527000 39 19 0 0 0.00229938 0 0 STARD10 10809 broad.mit.edu 37 11 72466782 72466782 + Nonsense_Mutation SNP C T T TCGA-EE-A3AC-06A-11D-A196-08 TCGA-EE-A3AC-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 883d623b-c427-4444-9ee3-66d18648130f f8f00311-8db5-4187-bcb8-5054d9fbdac3 g.chr11:72466782C>T uc001osy.3 - 5 778 c.594G>A c.(592-594)tgG>tgA p.W198* ARAP1_uc001osv.3_Intron|STARD10_uc001osz.4_Nonsense_Mutation_p.W198*|STARD10_uc001ota.3_Nonsense_Mutation_p.W152*|STARD10_uc001otb.3_Nonsense_Mutation_p.W198* NM_006645 NP_006636 Q9Y365 PCTL_HUMAN Homo sapiens StAR-related lipid transfer (START) domain containing 10 (STARD10), mRNA. 198 START. endometrium(4)|large_intestine(1)|lung(2)|prostate(1) 8 BRCA - Breast invasive adenocarcinoma(5;7.08e-07) TATTCACCACCCACTTGGGTA 0.582000 80 55 0 0 0.000781405 0 0 PLA1A 51365 broad.mit.edu 37 3 119336910 119336910 + Missense_Mutation SNP T C C TCGA-EE-A3AC-06A-11D-A196-08 TCGA-EE-A3AC-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 883d623b-c427-4444-9ee3-66d18648130f f8f00311-8db5-4187-bcb8-5054d9fbdac3 g.chr3:119336910T>C uc003ecu.3 + 6 865 c.799T>C c.(799-801)Tac>Cac p.Y267H PLA1A_uc003ecv.3_Missense_Mutation_p.Y251H|PLA1A_uc011bjc.2_Missense_Mutation_p.Y94H|PLA1A_uc003ecw.3_Non-coding_Transcript NM_015900 NP_001193890 Q53H76 PLA1A_HUMAN Homo sapiens phospholipase A1 member A (PLA1A), transcript variant 1, mRNA. 267 lipid catabolic process|phosphatidylserine metabolic process extracellular region phospholipase A1 activity NS(1)|central_nervous_system(1)|endometrium(2)|large_intestine(6)|lung(16)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1) 30 TGTGCACCTCTACATCAGCGC 0.473000 121 69 0 0 0.000781405 0 0 RTN4RL1 146760 broad.mit.edu 37 17 1840680 1840680 + Missense_Mutation SNP C T T TCGA-EE-A3AC-06A-11D-A196-08 TCGA-EE-A3AC-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 883d623b-c427-4444-9ee3-66d18648130f f8f00311-8db5-4187-bcb8-5054d9fbdac3 g.chr17:1840680C>T uc002ftp.3 - 1 455 c.436G>A c.(436-438)Ggc>Agc p.G146S NM_178568 NP_848663 Q86UN2 R4RL1_HUMAN Homo sapiens reticulon 4 receptor-like 1 (RTN4RL1), mRNA. 146 axon regeneration anchored to plasma membrane receptor activity p.F145F(1) breast(1)|endometrium(4)|kidney(1)|large_intestine(2)|prostate(2)|skin(1) 11 TGCAGGCCGCCAAAGACGCCG 0.627000 15 15 0 0 0.000422831 0 0 MMEL1 79258 broad.mit.edu 37 1 2524135 2524136 + Missense_Mutation DNP CC TT TT TCGA-EE-A3AC-06A-11D-A196-08 TCGA-EE-A3AC-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 883d623b-c427-4444-9ee3-66d18648130f f8f00311-8db5-4187-bcb8-5054d9fbdac3 g.chr1:2524135_2524136CC>TT uc001ajy.2 - 20 2239_2240 c.2025_2026GG>AA c.(2023-2028)ggggaa>ggAAaa p.E676K MMEL1_uc009vlg.1_Non-coding_Transcript NM_033467 NP_258428 Q495T6 MMEL1_HUMAN Homo sapiens membrane metallo-endopeptidase-like 1 (MMEL1), mRNA. 676 proteolysis extracellular region|integral to membrane|intracellular membrane-bounded organelle metal ion binding|metalloendopeptidase activity cervix(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(1)|lung(13)|ovary(2)|prostate(1)|urinary_tract(1) 27 all_cancers(77;0.000233)|all_epithelial(69;8.55e-05)|all_lung(157;0.0228)|Lung NSC(156;0.0402)|Ovarian(185;0.0634) all_epithelial(116;1.03e-20)|all_lung(118;5.15e-09)|Lung NSC(185;9.02e-07)|Breast(487;0.00147)|Renal(390;0.00183)|Hepatocellular(190;0.00826)|Myeloproliferative disorder(586;0.0122)|Ovarian(437;0.0308)|Lung SC(97;0.0847)|Medulloblastoma(700;0.123) Epithelial(90;4.31e-38)|OV - Ovarian serous cystadenocarcinoma(86;8.52e-23)|GBM - Glioblastoma multiforme(42;1.49e-08)|Colorectal(212;4.79e-05)|COAD - Colon adenocarcinoma(227;0.000213)|Kidney(185;0.000371)|BRCA - Breast invasive adenocarcinoma(365;0.00219)|KIRC - Kidney renal clear cell carcinoma(229;0.00571)|STAD - Stomach adenocarcinoma(132;0.00645)|Lung(427;0.131) GCAATGTTTTCCCCAAGGGTGT 0.683000 17 13 0 0 6.4e-05 0 0 HKDC1 80201 broad.mit.edu 37 10 70998811 70998811 + Missense_Mutation SNP C T T TCGA-EE-A3AC-06A-11D-A196-08 TCGA-EE-A3AC-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 883d623b-c427-4444-9ee3-66d18648130f f8f00311-8db5-4187-bcb8-5054d9fbdac3 g.chr10:70998811C>T uc001jpf.4 + 4 642 c.509C>T c.(508-510)tCg>tTg p.S170L HKDC1_uc010qje.2_Missense_Mutation_p.S33L NM_025130 NP_079406 Q2TB90 HKDC1_HUMAN Homo sapiens hexokinase domain containing 1 (HKDC1), mRNA. 170 Glucose-binding (Potential). glycolysis mitochondrion|nucleus ATP binding|hexokinase activity breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(11)|ovary(5)|prostate(1)|skin(1)|upper_aerodigestive_tract(1) 34 GTCCTACTTTCGTGGACAAAA 0.502000 35 15 0 0 0.000422831 0 0 AKR7A2 8574 broad.mit.edu 37 1 19630880 19630880 + Splice_Site SNP C T T TCGA-EE-A3AC-06A-11D-A196-08 TCGA-EE-A3AC-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 883d623b-c427-4444-9ee3-66d18648130f f8f00311-8db5-4187-bcb8-5054d9fbdac3 g.chr1:19630880C>T uc001bbw.3 - 7 941 c.919_splice c.e7-1 p.G307_splice NM_003689 NP_003680 O43488 ARK72_HUMAN Homo sapiens aldo-keto reductase family 7, member A2 (aflatoxin aldehyde reductase) (AKR7A2), mRNA. 307 carbohydrate metabolic process|cellular aldehyde metabolic process Golgi apparatus alditol:NADP+ 1-oxidoreductase activity|electron carrier activity central_nervous_system(1)|endometrium(2)|large_intestine(1)|lung(2)|ovary(1)|skin(1)|upper_aerodigestive_tract(1) 9 Colorectal(325;3.46e-05)|Renal(390;0.000147)|all_lung(284;0.000321)|Lung NSC(340;0.000398)|Breast(348;0.00049)|Ovarian(437;0.00764)|Myeloproliferative disorder(586;0.0255) UCEC - Uterine corpus endometrioid carcinoma (279;0.00461)|BRCA - Breast invasive adenocarcinoma(304;1.83e-05)|Kidney(64;0.000167)|GBM - Glioblastoma multiforme(114;0.00115)|KIRC - Kidney renal clear cell carcinoma(64;0.00258)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649) CCGTGGGCACCCTGCAAGGGA 0.642000 51 28 0 0 0.001512 0 0 GCM1 8521 broad.mit.edu 37 6 52993656 52993656 + Missense_Mutation SNP C T T TCGA-EE-A3AC-06A-11D-A196-08 TCGA-EE-A3AC-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 883d623b-c427-4444-9ee3-66d18648130f f8f00311-8db5-4187-bcb8-5054d9fbdac3 g.chr6:52993656C>T uc003pbp.3 - 5 868 c.659G>A c.(658-660)gGa>gAa p.G220E NM_003643 NP_003634 Q9NP62 GCM1_HUMAN Homo sapiens glial cells missing homolog 1 (Drosophila) (GCM1), mRNA. 220 transcription factor complex DNA binding|sequence-specific DNA binding transcription factor activity|transcription factor binding central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(2)|liver(1)|lung(15)|ovary(1)|skin(1) 24 Lung NSC(77;0.0755) TATTAAATGTCCACTGTAACT 0.443000 49 38 0 0 0.00148497 0 0 ANGPT4 51378 broad.mit.edu 37 20 896675 896675 + Silent SNP G A A TCGA-EE-A3AC-06A-11D-A196-08 TCGA-EE-A3AC-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 883d623b-c427-4444-9ee3-66d18648130f f8f00311-8db5-4187-bcb8-5054d9fbdac3 g.chr20:896675G>A uc002wei.3 - 0 286 c.183C>T c.(181-183)gtC>gtT p.V61V ANGPT4_uc010zpn.2_Silent_p.V55V NM_015985 NP_057069 Q9Y264 ANGP4_HUMAN Homo sapiens angiopoietin 4 (ANGPT4), mRNA. 61 anti-apoptosis|blood coagulation|cellular response to hypoxia|leukocyte migration|negative regulation of angiogenesis|negative regulation of blood vessel endothelial cell migration|positive regulation of angiogenesis|positive regulation of blood vessel endothelial cell migration|positive regulation of peptidyl-tyrosine phosphorylation|signal transduction extracellular space receptor tyrosine kinase binding|transmembrane receptor protein tyrosine kinase activator activity breast(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(5)|lung(12)|ovary(2)|prostate(1) 27 AGTCCCTGGAGACCTCAGGCC 0.622000 59 28 0 0 0.00209593 0 0 THSD7B 80731 broad.mit.edu 37 2 138373853 138373853 + Missense_Mutation SNP G A A TCGA-EE-A3AC-06A-11D-A196-08 TCGA-EE-A3AC-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 883d623b-c427-4444-9ee3-66d18648130f f8f00311-8db5-4187-bcb8-5054d9fbdac3 g.chr2:138373853G>A uc002tva.1 + 16 3442 c.3442G>A c.(3442-3444)Gaa>Aaa p.E1148K THSD7B_uc010zbj.1_Intron NM_001080427 NP_001073896 Homo sapiens thrombospondin, type I, domain containing 7B (THSD7B), mRNA. NS(3)|breast(3)|central_nervous_system(2)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(14)|lung(57)|ovary(4)|pancreas(3)|prostate(11)|skin(4)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(3) 134 BRCA - Breast invasive adenocarcinoma(221;0.19) CCTCCTGAATGAAAATTGCTT 0.453000 62 40 0 0 0.00222228 0 0 KRT6A 3853 broad.mit.edu 37 12 52882250 52882250 + Missense_Mutation SNP C A A TCGA-EE-A3AC-06A-11D-A196-08 TCGA-EE-A3AC-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 883d623b-c427-4444-9ee3-66d18648130f f8f00311-8db5-4187-bcb8-5054d9fbdac3 g.chr12:52882250C>A uc001sam.3 - 6 1495 c.1286G>T c.(1285-1287)gGg>gTg p.G429V NM_005554 NP_005545 P02538 K2C6A_HUMAN Homo sapiens keratin 6A (KRT6A), mRNA. 429 Coil 2.|Rod. cell differentiation|ectoderm development|positive regulation of cell proliferation keratin filament protein binding|structural constituent of cytoskeleton p.G429W(1)|p.G429R(1) breast(2)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|liver(1)|lung(14)|ovary(4)|prostate(1)|skin(1)|stomach(1)|urinary_tract(1) 39 BRCA - Breast invasive adenocarcinoma(357;0.189) ATCCTCCAGCCCTTCCAGCTT 0.602000 47 22 3.7963e-18 1.75191e-17 0.00047179 1 0 DNAH8 1769 broad.mit.edu 37 6 38843419 38843419 + Missense_Mutation SNP C T T TCGA-EE-A3AC-06A-11D-A196-08 TCGA-EE-A3AC-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 883d623b-c427-4444-9ee3-66d18648130f f8f00311-8db5-4187-bcb8-5054d9fbdac3 g.chr6:38843419C>T uc021yzh.1 + 52 7782 c.7673C>T c.(7672-7674)tCc>tTc p.S2558F DNAH8_uc003ooe.2_Missense_Mutation_p.S2341F NM_001206927 NP_001193856 Homo sapiens dynein, axonemal, heavy chain 8 (DNAH8), mRNA. p.P2557H(1) 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 GGCGGTGTTTCCTGTGTCGAA 0.338000 37 20 0 0 0.000375601 0 0 C4BPA 722 broad.mit.edu 37 1 207287488 207287488 + Missense_Mutation SNP G A A TCGA-EE-A3AC-06A-11D-A196-08 TCGA-EE-A3AC-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 883d623b-c427-4444-9ee3-66d18648130f f8f00311-8db5-4187-bcb8-5054d9fbdac3 g.chr1:207287488G>A uc001hfo.3 + 2 380 c.186G>A c.(184-186)atG>atA p.M62I NM_000715 NP_000706 P04003 C4BPA_HUMAN Homo sapiens complement component 4 binding protein, alpha (C4BPA), mRNA. 62 Sushi 1. complement activation, classical pathway|innate immune response extracellular region protein binding p.P61L(1) breast(1)|central_nervous_system(2)|endometrium(1)|kidney(2)|large_intestine(10)|lung(7)|ovary(2)|skin(1)|urinary_tract(2) 28 CTGCCCCGATGGATATTACGT 0.473000 86 32 0 0 0.00058488 0 0 STAB2 55576 broad.mit.edu 37 12 104149468 104149468 + Missense_Mutation SNP C T T TCGA-EE-A3AC-06A-11D-A196-08 TCGA-EE-A3AC-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 883d623b-c427-4444-9ee3-66d18648130f f8f00311-8db5-4187-bcb8-5054d9fbdac3 g.chr12:104149468C>T uc001tjw.3 + 62 7145 c.6959C>T c.(6958-6960)tCc>tTc p.S2320F STAB2_uc009zug.3_Intron NM_017564 NP_060034 Q8WWQ8 STAB2_HUMAN Homo sapiens stabilin 2 (STAB2), mRNA. 2320 FAS1 7. angiogenesis|cell adhesion|defense response to bacterium|receptor-mediated endocytosis cytoplasm|external side of plasma membrane|integral to plasma membrane Gram-negative bacterial cell surface binding|hyaluronic acid binding|low-density lipoprotein receptor activity|protein disulfide oxidoreductase activity|scavenger receptor activity NS(4)|breast(7)|central_nervous_system(1)|cervix(1)|endometrium(15)|kidney(11)|large_intestine(26)|lung(77)|ovary(10)|pancreas(1)|prostate(5)|skin(14)|stomach(2) 174 GTCCTGATGTCCTTCCCCTCA 0.562000 51 40 0 0 0.000781405 0 0 C14orf39 317761 broad.mit.edu 37 14 60932705 60932705 + Missense_Mutation SNP C T T TCGA-EE-A3AC-06A-11D-A196-08 TCGA-EE-A3AC-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 883d623b-c427-4444-9ee3-66d18648130f f8f00311-8db5-4187-bcb8-5054d9fbdac3 g.chr14:60932705C>T uc001xez.4 - 10 1074 c.964G>A c.(964-966)Gat>Aat p.D322N C14orf39_uc010apo.3_Missense_Mutation_p.D33N NM_174978 NP_777638 Q08AQ4 Q08AQ4_HUMAN Homo sapiens chromosome 14 open reading frame 39 (C14orf39), mRNA. 322 breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(5)|lung(7)|ovary(2)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1) 30 OV - Ovarian serous cystadenocarcinoma(108;0.0448) ACCTGTGTATCATTTTCTTTT 0.313000 10 9 0 0 0.00136819 0 0 PKHD1 5314 broad.mit.edu 37 6 51910917 51910917 + Missense_Mutation SNP G A A TCGA-EE-A3AC-06A-11D-A196-08 TCGA-EE-A3AC-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 883d623b-c427-4444-9ee3-66d18648130f f8f00311-8db5-4187-bcb8-5054d9fbdac3 g.chr6:51910917G>A uc003pah.1 - 23 2753 c.2477C>T c.(2476-2478)tCc>tTc p.S826F PKHD1_uc003pai.3_Missense_Mutation_p.S826F NM_138694 NP_619639 P08F94 PKHD1_HUMAN Homo sapiens polycystic kidney and hepatic disease 1 (autosomal recessive) (PKHD1), transcript variant 1, mRNA. 826 cell-cell adhesion|cilium assembly|homeostatic process|kidney development|negative regulation of cellular component movement anchored to external side of plasma membrane|apical plasma membrane|integral to membrane|microtubule basal body protein binding|receptor activity NS(1)|autonomic_ganglia(1)|breast(8)|central_nervous_system(5)|cervix(1)|endometrium(16)|haematopoietic_and_lymphoid_tissue(4)|kidney(11)|large_intestine(59)|lung(139)|ovary(16)|prostate(8)|skin(20)|soft_tissue(1)|stomach(2)|upper_aerodigestive_tract(7)|urinary_tract(5) 304 Lung NSC(77;0.0605) GAGGTACCTGGATGTGAAGTC 0.458000 34 26 0 0 0.00127121 0 0 GLYATL1 92292 broad.mit.edu 37 11 58722804 58722804 + Missense_Mutation SNP C T T TCGA-EE-A3AC-06A-11D-A196-08 TCGA-EE-A3AC-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 883d623b-c427-4444-9ee3-66d18648130f f8f00311-8db5-4187-bcb8-5054d9fbdac3 g.chr11:58722804C>T uc001nnh.2 + 5 612 c.562C>T c.(562-564)Cac>Tac p.H188Y GLYATL1_uc001nnf.3_Missense_Mutation_p.H157Y|LOC283194_uc001nng.1_Intron|GLYATL1_uc001nni.2_Missense_Mutation_p.H157Y|GLYATL1_uc001nnj.2_Missense_Mutation_p.H157Y NM_080661 NP_542392 Q969I3 GLYL1_HUMAN Homo sapiens glycine-N-acyltransferase-like 1 (GLYATL1), transcript variant 1, mRNA. 157 mitochondrion glycine N-acyltransferase activity NS(1)|endometrium(1)|kidney(2)|large_intestine(5)|lung(19)|ovary(1)|skin(4)|urinary_tract(1) 34 Glycine(DB00145) TGAGACAGGCCACCCAGATGA 0.398000 32 11 0 0 0.000978159 0 0 PTPRN 5798 broad.mit.edu 37 2 220168482 220168482 + Missense_Mutation SNP G A A rs147728110 TCGA-EE-A3AC-06A-11D-A196-08 TCGA-EE-A3AC-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 883d623b-c427-4444-9ee3-66d18648130f f8f00311-8db5-4187-bcb8-5054d9fbdac3 g.chr2:220168482G>A uc002vkz.3 - 3 593 c.352C>T c.(352-354)Ccc>Tcc p.P118S PTPRN_uc010zlc.2_Missense_Mutation_p.P28S|PTPRN_uc002vla.3_Missense_Mutation_p.P118S NM_002846 NP_001186693 Q16849 PTPRN_HUMAN Homo sapiens protein tyrosine phosphatase, receptor type, N (PTPRN), transcript variant 1, mRNA. 118 response to reactive oxygen species integral to plasma membrane transmembrane receptor protein tyrosine phosphatase activity breast(3)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|lung(28)|ovary(3)|prostate(4)|skin(11)|upper_aerodigestive_tract(1)|urinary_tract(1) 65 Renal(207;0.0474) Epithelial(149;4.22e-07)|all cancers(144;8.82e-05)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)|STAD - Stomach adenocarcinoma(1183;0.0875) GGCTCTGGGGGGCGAAGCCTG 0.542000 34 21 0 0 0.000586117 0 0 SPIC 121599 broad.mit.edu 37 12 101880381 101880381 + Silent SNP C T T TCGA-EE-A3AC-06A-11D-A196-08 TCGA-EE-A3AC-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 883d623b-c427-4444-9ee3-66d18648130f f8f00311-8db5-4187-bcb8-5054d9fbdac3 g.chr12:101880381C>T uc001tid.3 + 5 738 c.579C>T c.(577-579)ttC>ttT p.F193F SPIC_uc010svp.2_Silent_p.F193F|SPIC_uc009zua.3_Silent_p.F68F|SPIC_uc021rcq.1_Silent_p.F68F NM_152323 NP_689536 Q8N5J4 SPIC_HUMAN Homo sapiens Spi-C transcription factor (Spi-1/PU.1 related) (SPIC), mRNA. 193 nucleus sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity cervix(1)|endometrium(3)|kidney(1)|large_intestine(1)|lung(8)|prostate(2)|skin(4)|upper_aerodigestive_tract(2) 22 CTTACCAGTTCAGTGAGGCCA 0.438000 77 38 0 0 0.00148497 0 0 VAV1 7409 broad.mit.edu 37 19 6825388 6825388 + Silent SNP C T T TCGA-EE-A3AC-06A-11D-A196-08 TCGA-EE-A3AC-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 883d623b-c427-4444-9ee3-66d18648130f f8f00311-8db5-4187-bcb8-5054d9fbdac3 g.chr19:6825388C>T uc002mfu.1 + 7 895 c.798C>T c.(796-798)ctC>ctT p.L266L VAV1_uc010xjh.1_Silent_p.L234L|VAV1_uc010dva.1_Silent_p.L266L|VAV1_uc002mfv.1_Silent_p.L211L NM_005428 NP_005419 P15498 VAV_HUMAN Homo sapiens vav 1 guanine nucleotide exchange factor (VAV1), mRNA. 266 DH. T cell costimulation|apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|platelet activation|regulation of Rho protein signal transduction|small GTPase mediated signal transduction cytosol|plasma membrane metal ion binding|protein binding|sequence-specific DNA binding transcription factor activity biliary_tract(1)|breast(3)|central_nervous_system(2)|endometrium(3)|kidney(5)|large_intestine(16)|lung(18)|ovary(5)|prostate(2)|skin(5)|upper_aerodigestive_tract(2) 62 CAGCCAATCTCTACCAGGTCT 0.567000 19 14 0 0 0.000566183 0 0 POGZ 23126 broad.mit.edu 37 1 151378521 151378521 + Missense_Mutation SNP C A A TCGA-EE-A3AC-06A-11D-A196-08 TCGA-EE-A3AC-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 883d623b-c427-4444-9ee3-66d18648130f f8f00311-8db5-4187-bcb8-5054d9fbdac3 g.chr1:151378521C>A uc001eyd.2 - 18 3305 c.2990G>T c.(2989-2991)cGa>cTa p.R997L POGZ_uc021oyq.1_Missense_Mutation_p.R944L|POGZ_uc010pdb.2_Missense_Mutation_p.R988L|POGZ_uc010pdc.2_Missense_Mutation_p.R935L|POGZ_uc009wmv.2_Missense_Mutation_p.R902L|POGZ_uc001eyf.2_Missense_Mutation_p.R953L|POGZ_uc010pdd.2_Missense_Mutation_p.R488L NM_015100 NP_055915 Q7Z3K3 POGZ_HUMAN Homo sapiens pogo transposable element with ZNF domain (POGZ), transcript variant 1, mRNA. 997 cell division|kinetochore assembly|mitotic sister chromatid cohesion|regulation of transcription, DNA-dependent cytoplasm|nuclear chromatin DNA binding|protein binding|zinc ion binding NS(1)|breast(1)|endometrium(10)|kidney(3)|large_intestine(10)|liver(2)|lung(11)|ovary(3)|prostate(2)|skin(3)|urinary_tract(1) 47 Lung SC(34;0.00471)|Ovarian(49;0.00672)|Hepatocellular(266;0.0997)|all_hematologic(923;0.127)|Melanoma(130;0.185) UCEC - Uterine corpus endometrioid carcinoma (35;0.112)|LUSC - Lung squamous cell carcinoma(543;0.181) CTGGGGATTTCGGAAGTGTTC 0.507000 45 21 3.51602e-12 1.61671e-11 0.00121646 1 0 ABCC8 6833 broad.mit.edu 37 11 17430031 17430031 + Missense_Mutation SNP C T T TCGA-EE-A3AC-06A-11D-A196-08 TCGA-EE-A3AC-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 883d623b-c427-4444-9ee3-66d18648130f f8f00311-8db5-4187-bcb8-5054d9fbdac3 g.chr11:17430031C>T uc001mnc.3 - 22 2854 c.2728G>A c.(2728-2730)Gag>Aag p.E910K NM_000352 NP_000343 Q09428 ABCC8_HUMAN Homo sapiens ATP-binding cassette, sub-family C (CFTR/MRP), member 8 (ABCC8), mRNA. 910 ABC transporter 1. carbohydrate metabolic process|energy reserve metabolic process integral to membrane ATP binding|ATPase activity, coupled to transmembrane movement of substances|potassium ion transmembrane transporter activity|sulfonylurea receptor activity p.E910*(2) NS(1)|breast(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(14)|lung(38)|ovary(1)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1) 67 READ - Rectum adenocarcinoma(2;0.0325)|Colorectal(2;0.1) Adenosine triphosphate(DB00171)|Glibenclamide(DB01016)|Gliclazide(DB01120)|Mitiglinide(DB01252)|Nateglinide(DB00731)|Repaglinide(DB00912) AGGGTACCCTCCCTCTGGATG 0.547000 142 116 0 0 0.000781405 0 0 LOC642846 642846 broad.mit.edu 37 12 9458891 9458891 + RNA SNP A G G rs140731402 by1000genomes TCGA-EE-A3AC-06A-11D-A196-08 TCGA-EE-A3AC-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 883d623b-c427-4444-9ee3-66d18648130f f8f00311-8db5-4187-bcb8-5054d9fbdac3 g.chr12:9458891A>G uc001qvp.2 + 7 c.600A>G LOC642846_uc010sgp.1_Non-coding_Transcript Homo sapiens DEAD/H (Asp-Glu-Ala-Asp/His) box polypeptide 11-like (LOC642846), non-coding RNA. p.L565L(1) CTTCCCCACTAATGCACATCG 0.612000 11 4 0 0 0.000602214 0 0 USP44 84101 broad.mit.edu 37 12 95927372 95927372 + Nonsense_Mutation SNP G A A TCGA-EE-A3AC-06A-11D-A196-08 TCGA-EE-A3AC-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 883d623b-c427-4444-9ee3-66d18648130f f8f00311-8db5-4187-bcb8-5054d9fbdac3 g.chr12:95927372G>A uc001teg.3 - 1 805 c.661C>T c.(661-663)Cag>Tag p.Q221* USP44_uc001teh.3_Nonsense_Mutation_p.Q221*|USP44_uc009zte.3_Nonsense_Mutation_p.Q218* NM_001042403 NP_115523 Q9H0E7 UBP44_HUMAN Homo sapiens ubiquitin specific peptidase 44 (USP44), transcript variant 2, mRNA. 221 anaphase|cell division|mitosis|negative regulation of mitotic anaphase-promoting complex activity|protein deubiquitination|regulation of spindle checkpoint|ubiquitin-dependent protein catabolic process nucleus protein binding|ubiquitin thiolesterase activity|ubiquitin-specific protease activity|zinc ion binding breast(2)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(12)|lung(5)|ovary(1)|skin(3)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(1) 36 ATGGTCGACTGAGCGAGCCCT 0.403000 41 32 0 0 0.001512 0 0 PCDHAC2 56134 broad.mit.edu 37 5 140176162 140176163 + Missense_Mutation DNP GG AA AA TCGA-EE-A3AC-06A-11D-A196-08 TCGA-EE-A3AC-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 883d623b-c427-4444-9ee3-66d18648130f f8f00311-8db5-4187-bcb8-5054d9fbdac3 g.chr5:140176162_140176163GG>AA uc003lhd.2 + 0 1719_1720 c.1613_1614GG>AA c.(1612-1614)cgg>cAA p.R538Q PCDHAC2_uc003lha.2_Intron|PCDHAC2_uc003lhb.2_Intron|PCDHAC2_uc003lhc.1_Missense_Mutation_p.R538Q|PCDHAC2_uc011czy.2_Missense_Mutation_p.R538Q NM_018905 NP_061728 Q9Y5I4 PCDC2_HUMAN Homo sapiens protocadherin alpha 2 (PCDHA2), transcript variant 1, mRNA. 552 Cadherin 5. homophilic cell adhesion|nervous system development integral to plasma membrane calcium ion binding NS(1)|breast(1)|endometrium(4)|kidney(4)|large_intestine(10)|liver(2)|lung(9)|ovary(2)|prostate(1)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(1) 45 KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191) GTGAGCGCGCGGGATGCGGGCG 0.673000 51 37 0 0 6.4e-05 0 0 PDE5A 8654 broad.mit.edu 37 4 120419758 120419758 + Nonstop_Mutation SNP A G G TCGA-EE-A3AC-06A-11D-A196-08 TCGA-EE-A3AC-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 883d623b-c427-4444-9ee3-66d18648130f f8f00311-8db5-4187-bcb8-5054d9fbdac3 g.chr4:120419758A>G uc003idh.3 - 20 2781 c.2626T>C c.(2626-2628)Tga>Cga p.*876R PDE5A_uc003idf.3_Nonstop_Mutation_p.*834R|PDE5A_uc003idg.3_Nonstop_Mutation_p.*824R|LOC645513_uc021xrg.1_Intron NM_001083 NP_246273 O76074 PDE5A_HUMAN Homo sapiens phosphodiesterase 5A, cGMP-specific (PDE5A), transcript variant 1, mRNA. 0 platelet activation|signal transduction cytosol 3',5'-cyclic-GMP phosphodiesterase activity|cGMP binding|zinc ion binding breast(4)|endometrium(2)|kidney(3)|large_intestine(8)|lung(7)|prostate(1)|skin(1)|urinary_tract(1) 27 Dipyridamole(DB00975)|Pentoxifylline(DB00806)|Sildenafil(DB00203)|Tadalafil(DB00820)|Theophylline(DB00277)|Vardenafil(DB00862) TAGGCCACTCAGTTCCGCTTG 0.473000 18 9 0 0 0.000673444 0 0 HSP90AB3P 3327 broad.mit.edu 37 4 88813033 88813033 + Silent SNP G A A TCGA-EE-A3AC-06A-11D-A196-08 TCGA-EE-A3AC-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 883d623b-c427-4444-9ee3-66d18648130f f8f00311-8db5-4187-bcb8-5054d9fbdac3 g.chr4:88813033G>A uc010iko.1 + 0 39 c.39G>A c.(37-39)gaG>gaA p.E13E Homo sapiens heat shock protein 90kDa alpha (cytosolic), class B member 3, pseudogene (HSP90AB3P), non-coding RNA. AGGAGGTGGAGACTTTTGCCT 0.458000 27 12 0 0 0.000219431 0 0 LRP8 7804 broad.mit.edu 37 1 53730059 53730059 + Missense_Mutation SNP C T T TCGA-EE-A3AC-06A-11D-A196-08 TCGA-EE-A3AC-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 883d623b-c427-4444-9ee3-66d18648130f f8f00311-8db5-4187-bcb8-5054d9fbdac3 g.chr1:53730059C>T uc001cvi.2 - 9 1674 c.1437G>A c.(1435-1437)atG>atA p.M479I LRP8_uc001cvh.2_Missense_Mutation_p.M32I|LRP8_uc001cvj.2_Missense_Mutation_p.M479I|LRP8_uc001cvk.2_Missense_Mutation_p.M309I|LRP8_uc001cvl.2_Missense_Mutation_p.M350I|LRP8_uc001cvm.1_Missense_Mutation_p.M64I NM_004631 NP_004622 Q14114 LRP8_HUMAN Homo sapiens low density lipoprotein receptor-related protein 8, apolipoprotein e receptor (LRP8), transcript variant 1, mRNA. 479 cytokine-mediated signaling pathway|endocytosis|lipid metabolic process|platelet activation|proteolysis caveola calcium ion binding|very-low-density lipoprotein particle receptor activity endometrium(2)|kidney(1)|large_intestine(6)|lung(9)|prostate(2)|skin(1) 21 TGGCCTTGTCCATGTAGGCGC 0.562000 6 5 0 0 0.00116845 0 0 TMPRSS4 56649 broad.mit.edu 37 11 117965569 117965569 + Splice_Site SNP C T T TCGA-EE-A3AC-06A-11D-A196-08 TCGA-EE-A3AC-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 883d623b-c427-4444-9ee3-66d18648130f f8f00311-8db5-4187-bcb8-5054d9fbdac3 g.chr11:117965569C>T uc021qrd.1 + 2 334 c.43_splice c.e2+1 p.D15_splice TMPRSS4_uc009yzu.3_Splice_Site|TMPRSS4_uc021qre.1_Splice_Site_p.D15_splice|TMPRSS4_uc010rxo.2_Splice_Site_p.D13_splice|TMPRSS4_uc010rxs.2_Splice_Site_p.V13_splice|TMPRSS4_uc010rxq.2_Splice_Site|TMPRSS4_uc010rxr.2_5'UTR|TMPRSS4_uc010rxt.2_Splice_Site NM_019894 NP_063947 Q9NRS4 TMPS4_HUMAN Homo sapiens transmembrane protease, serine 4 (TMPRSS4), transcript variant 1, mRNA. 15 proteolysis integral to membrane scavenger receptor activity|serine-type endopeptidase activity breast(2)|central_nervous_system(2)|large_intestine(3)|lung(8)|ovary(1)|prostate(2)|skin(1) 19 all_hematologic(175;0.0487) Medulloblastoma(222;0.0431)|all_hematologic(192;0.164)|Breast(348;0.183)|all_neural(223;0.238) BRCA - Breast invasive adenocarcinoma(274;4.16e-05)|Epithelial(105;0.00204) TGAACAGCCTCGGTAAGTTCA 0.542000 23 5 0 0 0.000602214 0 0 DLGAP4 22839 broad.mit.edu 37 20 35060740 35060741 + Missense_Mutation DNP CC TT TT TCGA-EE-A3AC-06A-11D-A196-08 TCGA-EE-A3AC-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 883d623b-c427-4444-9ee3-66d18648130f f8f00311-8db5-4187-bcb8-5054d9fbdac3 g.chr20:35060740_35060741CC>TT uc002xff.3 + 2 1055_1056 c.620_621CC>TT c.(619-621)tcc>tTT p.S207F DLGAP4_uc010zvp.2_Missense_Mutation_p.S207F NM_014902 NP_055717 Q9Y2H0 DLGP4_HUMAN Homo sapiens discs, large (Drosophila) homolog-associated protein 4 (DLGAP4), transcript variant 1, mRNA. 207 cell-cell signaling membrane protein binding breast(2)|central_nervous_system(1)|cervix(1)|endometrium(2)|large_intestine(3)|lung(20)|ovary(2)|prostate(1)|skin(4)|upper_aerodigestive_tract(1) 37 Breast(12;0.0192) Myeloproliferative disorder(115;0.00878) TGGTGGAGCTCCGATGACAACT 0.678000 26 47 0 0 6.4e-05 0 0 ZC3H12A 80149 broad.mit.edu 37 1 37947358 37947358 + Missense_Mutation SNP G C C TCGA-EE-A3AC-06A-11D-A196-08 TCGA-EE-A3AC-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 883d623b-c427-4444-9ee3-66d18648130f f8f00311-8db5-4187-bcb8-5054d9fbdac3 g.chr1:37947358G>C uc001cbb.4 + 3 890 c.740G>C c.(739-741)cGt>cCt p.R247P ZC3H12A_uc001cbc.1_5'UTR NM_025079 NP_079355 Q5D1E8 ZC12A_HUMAN Homo sapiens zinc finger CCCH-type containing 12A (ZC3H12A), mRNA. 247 angiogenesis|apoptosis|cell differentiation cytoplasm|nucleus|plasma membrane endonuclease activity|metal ion binding p.R247C(1) NS(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(3)|lung(5)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 21 Myeloproliferative disorder(586;0.0255)|all_neural(195;0.164) GACACATACCGTGACCTCCAA 0.582000 35 26 0 0 0.000720815 0 0 BRP44 25874 broad.mit.edu 37 1 167889261 167889261 + Silent SNP G A A TCGA-EE-A3AC-06A-11D-A196-08 TCGA-EE-A3AC-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 883d623b-c427-4444-9ee3-66d18648130f f8f00311-8db5-4187-bcb8-5054d9fbdac3 g.chr1:167889261G>A uc001ges.3 - 3 663 c.303C>T c.(301-303)ttC>ttT p.F101F BRP44_uc001geu.3_Silent_p.F101F|BRP44_uc001get.3_Silent_p.F101F NM_015415 NP_056230 O95563 BR44_HUMAN Homo sapiens brain protein 44 (BRP44), transcript variant 2, mRNA. 101 mitochondrion p.F101L(2) breast(1)|kidney(1)|large_intestine(2) 4 all_hematologic(923;0.215) KIRC - Kidney renal clear cell carcinoma(1967;0.247) CCCCCACAAAGAAATTAACAG 0.353000 148 61 0 0 0.000781405 0 0 NYAP2 57624 broad.mit.edu 37 2 226446850 226446850 + Silent SNP G A A TCGA-EE-A3AC-06A-11D-A196-08 TCGA-EE-A3AC-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 883d623b-c427-4444-9ee3-66d18648130f f8f00311-8db5-4187-bcb8-5054d9fbdac3 g.chr2:226446850G>A uc002voe.2 + 3 892 c.717G>A c.(715-717)gaG>gaA p.E239E NYAP2_uc010fxa.1_Intron|NYAP2_uc002vof.1_Silent_p.E9E NM_020864 NP_065915 Q9P242 K1486_HUMAN Homo sapiens neuronal tyrosine-phosphorylated phosphoinositide-3-kinase adaptor 2 (NYAP2), mRNA. 239 GAGACCCCGAGGAAGAGGAGC 0.592000 77 45 0 0 0.000781405 0 0 CRB1 23418 broad.mit.edu 37 1 197404165 197404165 + Missense_Mutation SNP G A A TCGA-EE-A3AC-06A-11D-A196-08 TCGA-EE-A3AC-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 883d623b-c427-4444-9ee3-66d18648130f f8f00311-8db5-4187-bcb8-5054d9fbdac3 g.chr1:197404165G>A uc001gtz.3 + 8 3381 c.3172G>A c.(3172-3174)Gaa>Aaa p.E1058K CRB1_uc010poz.2_Missense_Mutation_p.E1034K|CRB1_uc009wza.3_Missense_Mutation_p.E946K|CRB1_uc010ppa.2_Non-coding_Transcript|CRB1_uc010ppb.2_Intron|CRB1_uc010ppd.2_Missense_Mutation_p.E539K|CRB1_uc001gub.1_Missense_Mutation_p.E707K NM_201253 NP_957705 P82279 CRUM1_HUMAN Homo sapiens crumbs homolog 1 (Drosophila) (CRB1), transcript variant 1, mRNA. 1058 Laminin G-like 3. cell-cell signaling|establishment or maintenance of cell polarity apical plasma membrane|extracellular region|integral to membrane calcium ion binding|protein binding p.E1058K(2) NS(1)|breast(4)|central_nervous_system(2)|cervix(3)|endometrium(13)|kidney(4)|large_intestine(21)|lung(58)|ovary(7)|prostate(3)|skin(10)|upper_aerodigestive_tract(4)|urinary_tract(2) 132 AGTGGACAACGAAACACCTTT 0.443000 42 13 0 0 0.000422831 0 0 KCNK17 89822 broad.mit.edu 37 6 39271779 39271779 + Silent SNP G A A rs140940240 byFrequency TCGA-EE-A3AC-06A-11D-A196-08 TCGA-EE-A3AC-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 883d623b-c427-4444-9ee3-66d18648130f f8f00311-8db5-4187-bcb8-5054d9fbdac3 g.chr6:39271779G>A uc003ooo.3 - 3 783 c.642C>T c.(640-642)ttC>ttT p.F214F KCNK17_uc003oop.3_Silent_p.F214F NM_031460 NP_113648 Q96T54 KCNKH_HUMAN Homo sapiens potassium channel, subfamily K, member 17 (KCNK17), transcript variant 1, mRNA. 214 integral to membrane potassium channel activity|voltage-gated ion channel activity endometrium(1)|kidney(1)|large_intestine(3)|lung(6)|ovary(1)|skin(2) 14 TGATGAAGGCGAAGTAGAAGC 0.632000 48 39 0 0 0.00170553 0 0 DOCK2 1794 broad.mit.edu 37 5 169186717 169186717 + Silent SNP T C C TCGA-EE-A3AC-06A-11D-A196-08 TCGA-EE-A3AC-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 883d623b-c427-4444-9ee3-66d18648130f f8f00311-8db5-4187-bcb8-5054d9fbdac3 g.chr5:169186717T>C uc003maf.3 + 23 2465 c.2385T>C c.(2383-2385)gcT>gcC p.A795A DOCK2_uc011der.2_Non-coding_Transcript|DOCK2_uc010jjm.3_Silent_p.A287A NM_004946 NP_004937 Q92608 DOCK2_HUMAN Homo sapiens dedicator of cytokinesis 2 (DOCK2), mRNA. 795 actin cytoskeleton organization|regulation of defense response to virus by virus|viral reproduction cytoskeleton|cytosol|endomembrane system|membrane GTP binding|GTPase binding|Rac guanyl-nucleotide exchange factor activity|T cell receptor binding|electron carrier activity|heme binding NS(2)|breast(5)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(42)|liver(2)|lung(63)|ovary(5)|pancreas(3)|prostate(7)|skin(5)|stomach(2)|upper_aerodigestive_tract(3) 160 Renal(175;0.000159)|Lung NSC(126;0.0221)|all_lung(126;0.0337) Medulloblastoma(196;0.0399)|all_neural(177;0.0966) Kidney(164;7.53e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525) AGGTGGCGGCTTTGAAATACA 0.453000 38 28 0 0 0.00178596 0 0 EP400 57634 broad.mit.edu 37 12 132502894 132502894 + Missense_Mutation SNP C T T TCGA-EE-A3AC-06A-11D-A196-08 TCGA-EE-A3AC-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 883d623b-c427-4444-9ee3-66d18648130f f8f00311-8db5-4187-bcb8-5054d9fbdac3 g.chr12:132502894C>T uc001ujn.3 + 20 4402 c.4250C>T c.(4249-4251)cCa>cTa p.P1417L EP400_uc021rgq.1_Missense_Mutation_p.P1416L|EP400_uc001ujm.3_Missense_Mutation_p.P1417L NM_015409 NP_056224 Q96L91 EP400_HUMAN Homo sapiens E1A binding protein p400 (EP400), mRNA. 1453 histone H2A acetylation|histone H4 acetylation|regulation of transcription, DNA-dependent NuA4 histone acetyltransferase complex|nuclear speck ATP binding|DNA binding|helicase activity NS(1)|breast(6)|central_nervous_system(10)|cervix(1)|endometrium(21)|kidney(13)|large_intestine(25)|lung(56)|ovary(5)|prostate(8)|skin(6)|stomach(4)|upper_aerodigestive_tract(2)|urinary_tract(3) 161 all_neural(191;0.0982)|Medulloblastoma(191;0.163) all_epithelial(31;0.198) OV - Ovarian serous cystadenocarcinoma(86;3.01e-08)|Epithelial(86;3.43e-07)|all cancers(50;2.01e-06) GCAGCCCGACCAGCAGCAGCA 0.592000 38 15 0 0 0.000566183 0 0 MYCBP2 23077 broad.mit.edu 37 13 77671818 77671818 + Silent SNP G A A TCGA-EE-A3AC-06A-11D-A196-08 TCGA-EE-A3AC-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 883d623b-c427-4444-9ee3-66d18648130f f8f00311-8db5-4187-bcb8-5054d9fbdac3 g.chr13:77671818G>A uc021rks.1 - 55 9738 c.9471C>T c.(9469-9471)ccC>ccT p.P3157P MYCBP2_uc010aev.3_Silent_p.P2523P|MYCBP2_uc001vkg.1_Silent_p.P642P|MYCBP2_uc010aew.3_Silent_p.P505P NM_015057 NP_055872 O75592 MYCB2_HUMAN Homo sapiens MYC binding protein 2 (MYCBP2), mRNA. 3119 Lys-rich. regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus ligase activity|protein binding|zinc ion binding NS(1)|autonomic_ganglia(1)|breast(8)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(17)|lung(51)|ovary(5)|pancreas(2)|prostate(5)|skin(7)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(2) 118 Breast(118;0.212)|Acute lymphoblastic leukemia(28;0.22) GBM - Glioblastoma multiforme(99;0.109) GTAAAGTTAAGGGAAGAGGAG 0.408000 10 8 0 0 0.000673444 0 0 FGFR4 2264 broad.mit.edu 37 5 176522441 176522441 + Splice_Site SNP G A A TCGA-EE-A3AC-06A-11D-A196-08 TCGA-EE-A3AC-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 883d623b-c427-4444-9ee3-66d18648130f f8f00311-8db5-4187-bcb8-5054d9fbdac3 g.chr5:176522441G>A uc003mfl.3 + 12 1797 c.1630_splice c.e12+1 p.G544_splice FGFR4_uc003mfm.3_Splice_Site_p.G544_splice|FGFR4_uc011dfu.2_Splice_Site_p.G476_splice|FGFR4_uc003mfo.3_Splice_Site_p.G504_splice NM_002011 NP_998812 P22455 FGFR4_HUMAN Homo sapiens fibroblast growth factor receptor 4 (FGFR4), transcript variant 1, mRNA. 544 Protein kinase. insulin receptor signaling pathway|positive regulation of cell proliferation integral to plasma membrane ATP binding|fibroblast growth factor binding|fibroblast growth factor receptor activity breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(16)|ovary(1)|prostate(2)|skin(2)|stomach(1)|urinary_tract(2) 34 all_cancers(89;5.93e-05)|Renal(175;0.000269)|Lung NSC(126;0.0088)|all_lung(126;0.0142) all_neural(177;0.00409)|Medulloblastoma(196;0.00498)|all_hematologic(541;0.21) Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178) Palifermin(DB00039) CACCCAGGAAGGTGGGGCCGA 0.637000 TSP Lung(9;0.080) 30 22 0 0 0.00047179 0 0 ANK2 287 broad.mit.edu 37 4 114277126 114277126 + Missense_Mutation SNP C T T TCGA-EE-A3AC-06A-11D-A196-08 TCGA-EE-A3AC-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 883d623b-c427-4444-9ee3-66d18648130f f8f00311-8db5-4187-bcb8-5054d9fbdac3 g.chr4:114277126C>T uc003ibe.4 + 37 7452 c.7352C>T c.(7351-7353)aCc>aTc p.T2451I ANK2_uc003ibd.4_Intron|ANK2_uc003ibf.4_Intron|ANK2_uc011cgc.2_Intron|ANK2_uc003ibg.4_Intron|ANK2_uc003ibh.4_Intron|ANK2_uc011cgb.1_Missense_Mutation_p.T2466I NM_001148 NP_001139 Q01484 ANK2_HUMAN Homo sapiens ankyrin 2, neuronal (ANK2), transcript variant 1, mRNA. 2418 axon guidance|signal transduction apical plasma membrane|basolateral plasma membrane|cytoskeleton|cytosol|sarcomere protein binding NS(1)|biliary_tract(1)|breast(9)|central_nervous_system(10)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(54)|liver(2)|lung(112)|ovary(8)|pancreas(1)|prostate(7)|skin(11)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(10) 248 Ovarian(17;0.0448)|Hepatocellular(203;0.218) OV - Ovarian serous cystadenocarcinoma(123;4.92e-05) TCACACAAAACCCCTGATTCT 0.502000 22 18 0 0 0.00074312 0 0 TRMU 55687 broad.mit.edu 37 22 46752825 46752826 + Missense_Mutation DNP CC TG TG rs142346622 TCGA-EE-A3AC-06A-11D-A196-08 TCGA-EE-A3AC-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 883d623b-c427-4444-9ee3-66d18648130f f8f00311-8db5-4187-bcb8-5054d9fbdac3 g.chr22:46752825_46752826CC>TG uc003bhp.3 + 10 1552_1553 c.1188_1189CC>TG c.(1186-1191)ggccag>ggTGag p.Q397E TRMU_uc003bhq.3_Missense_Mutation_p.Q179E|TRMU_uc003bhs.3_Nonsense_Mutation_p.P369*|TRMU_uc003bhr.3_Missense_Mutation_p.Q283E|TRMU_uc003bht.3_Missense_Mutation_p.Q250E|TRMU_uc003bhu.3_Missense_Mutation_p.Q179E|TRMU_uc003bhv.3_Nonsense_Mutation_p.P222* NM_018006 NP_060476 O75648 MTU1_HUMAN Homo sapiens tRNA 5-methylaminomethyl-2-thiouridylate methyltransferase (TRMU), nuclear gene encoding mitochondrial protein, transcript variant 1, mRNA. 397 mitochondrion ATP binding|sulfurtransferase activity|tRNA (5-methylaminomethyl-2-thiouridylate)-methyltransferase activity|tRNA binding NS(2)|cervix(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(2)|ovary(1) 10 Ovarian(80;0.00965)|Breast(42;0.0194)|all_neural(38;0.0416) UCEC - Uterine corpus endometrioid carcinoma (28;0.00449)|LUAD - Lung adenocarcinoma(64;0.248) TCCAGAAGGGCCAGCGCAGAGC 0.614000 20 21 0 0 6.4e-05 0 0 CLEC14A 161198 broad.mit.edu 37 14 38724757 38724757 + Nonsense_Mutation SNP C T T TCGA-EE-A3AC-06A-11D-A196-08 TCGA-EE-A3AC-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 883d623b-c427-4444-9ee3-66d18648130f f8f00311-8db5-4187-bcb8-5054d9fbdac3 g.chr14:38724757C>T uc001wum.1 - 0 818 c.471G>A c.(469-471)tgG>tgA p.W157* NM_175060 NP_778230 Q86T13 CLC14_HUMAN Homo sapiens C-type lectin domain family 14, member A (CLEC14A), mRNA. 157 C-type lectin. integral to membrane sugar binding breast(1)|cervix(2)|endometrium(2)|large_intestine(7)|lung(9)|ovary(4)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1) 33 Hepatocellular(127;0.213)|Esophageal squamous(585;0.22) Lung(238;3.93e-06)|LUAD - Lung adenocarcinoma(48;2.62e-05)|Epithelial(34;0.187) GBM - Glioblastoma multiforme(112;0.00439) GCATCTCCTTCCAGCCTGCGG 0.672000 22 23 0 0 0.00127121 0 0 RAB3GAP2 25782 broad.mit.edu 37 1 220379279 220379279 + Missense_Mutation SNP G A A TCGA-EE-A3AC-06A-11D-A196-08 TCGA-EE-A3AC-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 883d623b-c427-4444-9ee3-66d18648130f f8f00311-8db5-4187-bcb8-5054d9fbdac3 g.chr1:220379279G>A uc010puk.1 - 7 846 c.682C>T c.(682-684)Ctt>Ttt p.L228F RAB3GAP2_uc021pjf.1_Missense_Mutation_p.L228F|RAB3GAP2_uc001hmf.2_Non-coding_Transcript|RAB3GAP2_uc001hmg.2_5'UTR NM_012414 NP_036546 Q9H2M9 RBGPR_HUMAN Homo sapiens RAB3 GTPase activating protein subunit 2 (non-catalytic) (RAB3GAP2), mRNA. 228 intracellular protein transport cytoplasm|soluble fraction GTPase activator activity|protein heterodimerization activity breast(1)|central_nervous_system(1)|endometrium(6)|kidney(2)|large_intestine(8)|lung(13)|ovary(1)|pancreas(1)|prostate(4)|skin(1)|urinary_tract(1) 39 GBM - Glioblastoma multiforme(131;0.0443) CAAGCACGAAGAGATTGAAAA 0.303000 36 14 0 0 0.00121646 0 0 UBR1 197131 broad.mit.edu 37 15 43237663 43237664 + Missense_Mutation DNP CC AT AT TCGA-EE-A3AC-06A-11D-A196-08 TCGA-EE-A3AC-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 883d623b-c427-4444-9ee3-66d18648130f f8f00311-8db5-4187-bcb8-5054d9fbdac3 g.chr15:43237663_43237664CC>AT uc001zqq.3 - 46 5179_5180 c.5113_5114GG>AT c.(5113-5115)ggc>ATc p.G1705I NM_174916 NP_777576 Q8IWV7 UBR1_HUMAN Homo sapiens ubiquitin protein ligase E3 component n-recognin 1 (UBR1), mRNA. 1705 cellular response to leucine|negative regulation of TOR signaling cascade cytosol leucine binding|zinc ion binding NS(2)|endometrium(2)|kidney(7)|large_intestine(12)|lung(25)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(1) 58 all_cancers(109;4.32e-15)|all_epithelial(112;4.05e-13)|Lung NSC(122;1.75e-08)|all_lung(180;2e-07)|Melanoma(134;0.0179)|Colorectal(260;0.215) GBM - Glioblastoma multiforme(94;4.08e-07)|COAD - Colon adenocarcinoma(120;0.185)|Colorectal(105;0.214) AAGGGGGTTGCCCCTCCTTTAG 0.406000 26 14 0 0 6.4e-05 0 0 GALNT8 26290 broad.mit.edu 37 12 4855410 4855410 + Missense_Mutation SNP G A A TCGA-EE-A3AC-06A-11D-A196-08 TCGA-EE-A3AC-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 883d623b-c427-4444-9ee3-66d18648130f f8f00311-8db5-4187-bcb8-5054d9fbdac3 g.chr12:4855410G>A uc001qne.1 + 5 1251 c.1159G>A c.(1159-1161)Gag>Aag p.E387K NM_017417 NP_059113 Q9NY28 GALT8_HUMAN Homo sapiens UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase 8 (GalNAc-T8) (GALNT8), mRNA. 387 Catalytic subdomain B. Golgi membrane|integral to membrane polypeptide N-acetylgalactosaminyltransferase activity|sugar binding central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(13)|ovary(2)|pancreas(1)|prostate(4)|skin(2)|urinary_tract(1) 35 AGAGAACGTGGAGCTTAGCCT 0.498000 27 27 0 0 0.0024448 0 0 WDR5 11091 broad.mit.edu 37 9 137007825 137007825 + Missense_Mutation SNP C T T TCGA-EE-A3AC-06A-11D-A196-08 TCGA-EE-A3AC-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 883d623b-c427-4444-9ee3-66d18648130f f8f00311-8db5-4187-bcb8-5054d9fbdac3 g.chr9:137007825C>T uc004cey.3 + 6 683 c.512C>T c.(511-513)tCg>tTg p.S171L WDR5_uc004cez.3_Missense_Mutation_p.S171L NM_017588 NP_438172 P61964 WDR5_HUMAN Homo sapiens WD repeat domain 5 (WDR5), transcript variant 1, mRNA. 171 histone H3 acetylation|histone H3-K4 methylation|regulation of transcription, DNA-dependent|transcription, DNA-dependent Ada2/Gcn5/Ada3 transcription activator complex|MLL1 complex|Set1C/COMPASS complex protein binding endometrium(1)|kidney(1)|large_intestine(2)|lung(5) 9 Myeloproliferative disorder(178;0.0255)|Medulloblastoma(224;0.123) Epithelial(140;6.61e-13)|all cancers(34;5.66e-12)|OV - Ovarian serous cystadenocarcinoma(145;3.93e-08)|GBM - Glioblastoma multiforme(294;0.00326)|READ - Rectum adenocarcinoma(205;0.154) CCAGCTCACTCGGATCCAGTC 0.527000 60 46 0 0 0.000781405 0 0 AARS2 57505 broad.mit.edu 37 6 44274084 44274084 + Silent SNP G A A TCGA-EE-A3AC-06A-11D-A196-08 TCGA-EE-A3AC-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 883d623b-c427-4444-9ee3-66d18648130f f8f00311-8db5-4187-bcb8-5054d9fbdac3 g.chr6:44274084G>A uc010jza.1 - 8 1236 c.1233C>T c.(1231-1233)tcC>tcT p.S411S TMEM151B_uc003oxg.3_Intron|TMEM151B_uc003oxf.2_Intron NM_020745 NP_065796 Q5JTZ9 SYAM_HUMAN Homo sapiens alanyl-tRNA synthetase 2, mitochondrial (putative) (AARS2), nuclear gene encoding mitochondrial protein, mRNA. 411 alanyl-tRNA aminoacylation mitochondrion ATP binding|alanine-tRNA ligase activity|metal ion binding|tRNA binding breast(1)|central_nervous_system(1)|cervix(2)|endometrium(2)|kidney(1)|large_intestine(7)|lung(11)|ovary(3)|prostate(3)|skin(2)|stomach(1) 34 Hepatocellular(11;0.00908)|all_lung(25;0.0101)|Ovarian(13;0.0273) Colorectal(64;0.00337)|COAD - Colon adenocarcinoma(64;0.00536) L-Alanine(DB00160) CCCGCTCCAGGGAGGCCAGGA 0.597000 36 27 0 0 0.00127121 0 0 TP53RK 112858 broad.mit.edu 37 20 45315533 45315533 + Silent SNP G A A TCGA-EE-A3AC-06A-11D-A196-08 TCGA-EE-A3AC-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 883d623b-c427-4444-9ee3-66d18648130f f8f00311-8db5-4187-bcb8-5054d9fbdac3 g.chr20:45315533G>A uc002xsk.3 - 1 844 c.621C>T c.(619-621)ttC>ttT p.F207F SLC13A3_uc002xsg.2_5'Flank|SLC13A3_uc010gho.2_5'Flank|TP53RK_uc002xsj.3_3'UTR NM_033550 NP_291028 Q96S44 PRPK_HUMAN Homo sapiens TP53 regulating kinase (TP53RK), mRNA. 207 Protein kinase. lipopolysaccharide biosynthetic process membrane|nucleus ATP binding|p53 binding|protein serine/threonine kinase activity|protein tyrosine kinase activity kidney(1)|large_intestine(1)|lung(4)|skin(1) 7 Myeloproliferative disorder(115;0.0122) GGGTACTGAGGAAGGCCTTCT 0.468000 167 55 0 0 0.000781405 0 0 CLDN11 5010 broad.mit.edu 37 3 170150514 170150514 + Silent SNP C T T TCGA-EE-A3AC-06A-11D-A196-08 TCGA-EE-A3AC-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 883d623b-c427-4444-9ee3-66d18648130f f8f00311-8db5-4187-bcb8-5054d9fbdac3 g.chr3:170150514C>T uc003fgx.3 + 2 796 c.594C>T c.(592-594)tcC>tcT p.S198S CLDN11_uc011bpt.1_Intron|CLDN11_uc003fgy.3_Silent_p.S114S NM_005602 NP_001171985 O75508 CLD11_HUMAN Homo sapiens claudin 11 (CLDN11), transcript variant 1, mRNA. 198 RFYYTAGSSSPTHAKSAHV -> VSTTLRALAPRLMRRVPT YKRAARLPTEVL (in Ref. 1; AAC25187). calcium-independent cell-cell adhesion integral to membrane|tight junction identical protein binding|structural molecule activity central_nervous_system(2)|endometrium(2)|large_intestine(1)|liver(2)|lung(3)|ovary(2) 12 all_cancers(22;5.62e-23)|all_epithelial(15;7.54e-28)|all_lung(20;2.51e-17)|Lung NSC(18;1.02e-16)|Ovarian(172;0.000567)|Breast(254;0.137) Lung(28;2.71e-13)|STAD - Stomach adenocarcinoma(35;0.197) GCTCTAGCTCCCCGACTCATG 0.612000 43 27 0 0 0.00127121 0 0 B3GNT7 93010 broad.mit.edu 37 2 232263129 232263129 + Silent SNP C T T TCGA-EE-A3AC-06A-11D-A196-08 TCGA-EE-A3AC-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 883d623b-c427-4444-9ee3-66d18648130f f8f00311-8db5-4187-bcb8-5054d9fbdac3 g.chr2:232263129C>T uc002vrs.3 + 1 879 c.699C>T c.(697-699)gtC>gtT p.V233V NM_145236 NP_660279 Q8NFL0 B3GN7_HUMAN Homo sapiens UDP-GlcNAc:betaGal beta-1,3-N-acetylglucosaminyltransferase 7 (B3GNT7), mRNA. 233 V -> I (in dbSNP:rs2290130). protein glycosylation Golgi membrane|integral to membrane galactosyltransferase activity endometrium(2)|kidney(1)|large_intestine(7)|lung(4)|ovary(1)|prostate(1)|skin(1) 17 Renal(207;0.025)|all_hematologic(139;0.094)|Acute lymphoblastic leukemia(138;0.164)|Medulloblastoma(418;0.232) Epithelial(121;3.22e-11)|LUSC - Lung squamous cell carcinoma(224;0.0115)|Lung(119;0.0139) GCCCCCACGTCCCCTTCATTT 0.562000 78 42 0 0 0.000781405 0 0 ARHGAP5 394 broad.mit.edu 37 14 32560526 32560526 + Silent SNP A G G TCGA-EE-A3AC-06A-11D-A196-08 TCGA-EE-A3AC-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 883d623b-c427-4444-9ee3-66d18648130f f8f00311-8db5-4187-bcb8-5054d9fbdac3 g.chr14:32560526A>G uc001wrl.3 + 1 890 c.651A>G c.(649-651)tcA>tcG p.S217S ARHGAP5_uc001wrm.3_Silent_p.S217S|ARHGAP5_uc001wrn.3_Silent_p.S217S|ARHGAP5_uc001wro.3_Intron|ARHGAP5_uc001wrp.3_Intron NM_001173 NP_001025226 Q13017 RHG05_HUMAN Homo sapiens Rho GTPase activating protein 5 (ARHGAP5), transcript variant 2, mRNA. 217 Rho protein signal transduction|cell adhesion cytosol|membrane GTP binding|GTPase activity|Rho GTPase activator activity|SH2 domain binding NS(2)|breast(10)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(10)|lung(12)|ovary(4)|skin(1)|stomach(1)|urinary_tract(4) 55 Hepatocellular(127;0.0604)|Prostate(35;0.15)|Breast(36;0.186) LUAD - Lung adenocarcinoma(48;0.00192)|Lung(238;0.00714)|BRCA - Breast invasive adenocarcinoma(188;0.0952)|STAD - Stomach adenocarcinoma(7;0.173) GBM - Glioblastoma multiforme(265;0.00566) CATTTGCTTCAAATAAAAAGA 0.333000 69 39 0 0 0.00170553 0 0 SLC7A14 57709 broad.mit.edu 37 3 170198506 170198506 + Missense_Mutation SNP G A A TCGA-EE-A3AC-06A-11D-A196-08 TCGA-EE-A3AC-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 883d623b-c427-4444-9ee3-66d18648130f f8f00311-8db5-4187-bcb8-5054d9fbdac3 g.chr3:170198506G>A uc003fgz.2 - 6 1881 c.1565C>T c.(1564-1566)gCt>gTt p.A522V CLDN11_uc011bpt.1_Intron|CLDN11_uc003fha.1_Intron NM_020949 NP_066000 Q8TBB6 S7A14_HUMAN Homo sapiens solute carrier family 7 (orphan transporter), member 14 (SLC7A14), mRNA. 522 integral to membrane amino acid transmembrane transporter activity central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(9)|liver(1)|lung(23)|ovary(2)|pancreas(1)|upper_aerodigestive_tract(4) 53 all_cancers(22;2.41e-22)|all_epithelial(15;4.2e-27)|all_lung(20;1.17e-16)|Lung NSC(18;4.91e-16)|Ovarian(172;0.000902)|Breast(254;0.137) Lung(28;6.23e-13)|LUSC - Lung squamous cell carcinoma(14;1.48e-12) GGATTCATCAGCTTCTATGCC 0.458000 115 66 0 0 0.000781405 0 0 OTOGL 283310 broad.mit.edu 37 12 80765831 80765831 + Silent SNP C T T TCGA-EE-A3AC-06A-11D-A196-08 TCGA-EE-A3AC-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 883d623b-c427-4444-9ee3-66d18648130f f8f00311-8db5-4187-bcb8-5054d9fbdac3 g.chr12:80765831C>T uc001szd.3 + 55 6747 c.6741C>T c.(6739-6741)ggC>ggT p.G2247G OTOGL_uc021rba.1_Silent_p.G266G|OTOGL_uc009zsg.2_Silent_p.G127G NM_173591 NP_775862 Homo sapiens otogelin-like (OTOGL), mRNA. breast(1)|endometrium(3)|kidney(2)|large_intestine(2)|lung(14)|prostate(1) 23 ATAATGAAGGCTGTTGCAAGA 0.313000 18 8 0 0 0.000978159 0 0 CLASP2 23122 broad.mit.edu 37 3 33614738 33614738 + Missense_Mutation SNP C A A TCGA-EE-A3AC-06A-11D-A196-08 TCGA-EE-A3AC-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 883d623b-c427-4444-9ee3-66d18648130f f8f00311-8db5-4187-bcb8-5054d9fbdac3 g.chr3:33614738C>A uc021wvc.1 - 25 2801 c.2590G>T c.(2590-2592)Ggt>Tgt p.G864C CLASP2_uc003cfs.3_Missense_Mutation_p.G63C|CLASP2_uc021wva.1_5'UTR|CLASP2_uc021wvb.1_Missense_Mutation_p.G643C|CLASP2_uc011axt.1_Missense_Mutation_p.G456C NM_015097 NP_055912 B2RTR1 B2RTR1_HUMAN Homo sapiens cytoplasmic linker associated protein 2 (CLASP2), transcript variant 1, mRNA. 864 p.G855C(1)|p.Q863H(1)|p.T864T(1) breast(2)|central_nervous_system(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(19)|ovary(3)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1) 48 GGAATACTACCATTTCGAGAA 0.438000 208 11 0.000978159 0.00443687 0.000978159 1 0 ASMTL 8623 broad.mit.edu 37 X 1540610 1540611 + Nonsense_Mutation DNP GG AA AA TCGA-EE-A3AC-06A-11D-A196-08 TCGA-EE-A3AC-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 883d623b-c427-4444-9ee3-66d18648130f f8f00311-8db5-4187-bcb8-5054d9fbdac3 g.chrX:1540610_1540611GG>AA uc004cpx.2 - 8 1322_1323 c.1185_1186CC>TT c.(1183-1188)atccga>atTTga p.R396* CRLF2_uc022brt.1_Intron|ASMTL_uc004cpy.2_Nonsense_Mutation_p.R380*|ASMTL_uc011mhe.2_Nonsense_Mutation_p.R320*|ASMTL_uc011mhf.2_Nonsense_Mutation_p.R338* NM_004192 NP_001166944 O95671 ASML_HUMAN Homo sapiens acetylserotonin O-methyltransferase-like (ASMTL), transcript variant 1, mRNA. 396 ASMT-like. melatonin biosynthetic process cytoplasm acetylserotonin O-methyltransferase activity NS(1)|breast(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(1)|lung(9)|pancreas(1)|soft_tissue(1) 23 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) GTTCCCTCTCGGATGGCAAACT 0.540000 115 68 0 0 6.4e-05 0 0 LIN9 286826 broad.mit.edu 37 1 226421046 226421046 + Splice_Site SNP T C C TCGA-EE-A3AC-06A-11D-A196-08 TCGA-EE-A3AC-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 883d623b-c427-4444-9ee3-66d18648130f f8f00311-8db5-4187-bcb8-5054d9fbdac3 g.chr1:226421046T>C uc001hqa.2 - 13 1783 c.1473_splice c.e13+1 p.K491_splice LIN9_uc001hqb.2_Splice_Site_p.K456_splice|LIN9_uc001hqc.3_Splice_Site_p.K423_splice|LIN9_uc009xel.1_Splice_Site_p.K456_splice NM_173083 NP_775106 Q5TKA1 LIN9_HUMAN Homo sapiens lin-9 homolog (C. elegans) (LIN9), mRNA. 475 DNA replication|cell cycle nucleoplasm breast(3)|endometrium(4)|kidney(2)|large_intestine(6)|lung(9)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1) 28 Breast(184;0.158) GBM - Glioblastoma multiforme(131;0.131) AAGATTTACCTTAATTTGTAA 0.323000 82 89 0 0 0.000781405 0 0 SLCO1B3 28234 broad.mit.edu 37 12 21054336 21054336 + Missense_Mutation SNP G A A TCGA-EE-A3AC-06A-11D-A196-08 TCGA-EE-A3AC-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 883d623b-c427-4444-9ee3-66d18648130f f8f00311-8db5-4187-bcb8-5054d9fbdac3 g.chr12:21054336G>A uc010sil.2 + 12 1865 c.1800G>A c.(1798-1800)atG>atA p.M600I SLCO1B3_uc001rek.3_Missense_Mutation_p.M600I|SLCO1B3_uc001rel.3_Missense_Mutation_p.M600I|SLCO1B3_uc010sim.2_Intron Q9NPD5 SO1B3_HUMAN Homo sapiens solute carrier organic anion transporter family, member 1B3 (SLCO1B3), mRNA. 600 bile acid metabolic process|sodium-independent organic anion transport basolateral plasma membrane|cytoplasm|integral to plasma membrane bile acid transmembrane transporter activity|organic anion transmembrane transporter activity breast(3)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(12)|lung(23)|ovary(2)|prostate(2)|skin(6)|upper_aerodigestive_tract(4)|urinary_tract(2) 63 Esophageal squamous(101;0.149) AAACATGTATGAAGTGGTCCA 0.358000 80 52 0 0 0.000781405 0 0 FRAS1 80144 broad.mit.edu 37 4 79396646 79396646 + Silent SNP G A A TCGA-EE-A3AC-06A-11D-A196-08 TCGA-EE-A3AC-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 883d623b-c427-4444-9ee3-66d18648130f f8f00311-8db5-4187-bcb8-5054d9fbdac3 g.chr4:79396646G>A uc003hlb.2 + 53 8177 c.7737G>A c.(7735-7737)ggG>ggA p.G2579G NM_025074 NP_079350 Q86XX4 FRAS1_HUMAN Homo sapiens Fraser syndrome 1 (FRAS1), transcript variant 1, mRNA. 2578 Calx-beta 1. cell communication integral to membrane|plasma membrane metal ion binding p.R2578K(1) breast(2)|central_nervous_system(2)|cervix(2)|endometrium(14)|haematopoietic_and_lymphoid_tissue(2)|kidney(9)|large_intestine(5)|lung(54)|prostate(7)|skin(2)|urinary_tract(4) 103 AGAGGACTGGGAACCTGAACC 0.547000 40 22 0 0 0.00152264 0 0 ATG4D 84971 broad.mit.edu 37 19 10659628 10659628 + Missense_Mutation SNP C T T TCGA-EE-A3AC-06A-11D-A196-08 TCGA-EE-A3AC-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 883d623b-c427-4444-9ee3-66d18648130f f8f00311-8db5-4187-bcb8-5054d9fbdac3 g.chr19:10659628C>T uc002mov.3 + 5 1004 c.884C>T c.(883-885)gCc>gTc p.A295V ATG4D_uc010xlh.2_Missense_Mutation_p.A232V|ATG4D_uc010dxh.3_Non-coding_Transcript|ATG4D_uc010dxi.3_Non-coding_Transcript|ATG4D_uc010dxj.3_Intron NM_032885 NP_116274 Q86TL0 ATG4D_HUMAN Homo sapiens ATG4 autophagy related 4 homolog D (S. cerevisiae) (ATG4D), mRNA. 295 autophagy|protein transport cytoplasm cysteine-type endopeptidase activity NS(1)|endometrium(1)|kidney(1)|large_intestine(5)|lung(6)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(3) 19 Epithelial(33;9.2e-06)|all cancers(31;3.9e-05) GACCCCACAGCCGAGTGGAAG 0.622000 19 15 0 0 0.000422831 0 0 FAM118A 55007 broad.mit.edu 37 22 45719294 45719294 + Missense_Mutation SNP C T T TCGA-EE-A3AC-06A-11D-A196-08 TCGA-EE-A3AC-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 883d623b-c427-4444-9ee3-66d18648130f f8f00311-8db5-4187-bcb8-5054d9fbdac3 g.chr22:45719294C>T uc003bfz.4 + 3 902 c.286C>T c.(286-288)Cgg>Tgg p.R96W FAM118A_uc003bga.4_Missense_Mutation_p.R96W NM_001104595 NP_060381 Q9NWS6 F118A_HUMAN Homo sapiens family with sequence similarity 118, member A (FAM118A), transcript variant 1, mRNA. 96 integral to membrane endometrium(2)|kidney(2)|large_intestine(2)|lung(3)|stomach(1)|upper_aerodigestive_tract(1) 11 Ovarian(80;0.00965)|all_neural(38;0.0416) UCEC - Uterine corpus endometrioid carcinoma (28;0.0178) TGATCTGATCCGGAAGATGTC 0.547000 35 19 0 0 0.000375601 0 0 GPA33 10223 broad.mit.edu 37 1 167023580 167023580 + Silent SNP G A A rs35152579 TCGA-EE-A3AC-06A-11D-A196-08 TCGA-EE-A3AC-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 883d623b-c427-4444-9ee3-66d18648130f f8f00311-8db5-4187-bcb8-5054d9fbdac3 g.chr1:167023580G>A uc001gea.1 - 6 1295 c.951C>T c.(949-951)ctC>ctT p.L317L NM_005814 NP_005805 Q99795 GPA33_HUMAN Homo sapiens glycoprotein A33 (transmembrane) (GPA33), mRNA. 317 integral to plasma membrane receptor activity endometrium(4)|large_intestine(1)|lung(6)|prostate(1)|skin(2)|upper_aerodigestive_tract(1) 15 GTCACTGGTCGAGGTGGTCCG 0.592000 74 25 0 0 0.00209593 0 0 OR5D14 219436 broad.mit.edu 37 11 55563223 55563223 + Silent SNP C T T TCGA-EE-A3AC-06A-11D-A196-08 TCGA-EE-A3AC-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 883d623b-c427-4444-9ee3-66d18648130f f8f00311-8db5-4187-bcb8-5054d9fbdac3 g.chr11:55563223C>T uc010rim.2 + 0 192 c.192C>T c.(190-192)ttC>ttT p.F64F NM_001004735 NP_001004735 Q8NGL3 OR5DE_HUMAN Homo sapiens olfactory receptor, family 5, subfamily D, member 14 (OR5D14), mRNA. 64 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) TGTACTTTTTCCTTAGTCACC 0.368000 27 16 0 0 0.000566183 0 0 HSPG2 3339 broad.mit.edu 37 1 22173080 22173080 + Missense_Mutation SNP G A A TCGA-EE-A3AC-06A-11D-A196-08 TCGA-EE-A3AC-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 883d623b-c427-4444-9ee3-66d18648130f f8f00311-8db5-4187-bcb8-5054d9fbdac3 g.chr1:22173080G>A uc009vqd.3 - 62 8220 c.8180C>T c.(8179-8181)tCc>tTc p.S2727F HSPG2_uc001bfj.3_Missense_Mutation_p.S2726F NM_005529 NP_005520 P98160 PGBM_HUMAN Homo sapiens heparan sulfate proteoglycan 2 (HSPG2), mRNA. 2726 Ig-like C2-type 13. angiogenesis|cell adhesion|lipid metabolic process|lipoprotein metabolic process basement membrane|extracellular space|plasma membrane protein C-terminus binding breast(6)|central_nervous_system(1)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(9)|large_intestine(15)|liver(1)|lung(44)|ovary(10)|pancreas(1)|prostate(10)|skin(9)|upper_aerodigestive_tract(3)|urinary_tract(3) 127 Colorectal(325;3.46e-05)|all_lung(284;7.93e-05)|Lung NSC(340;8.71e-05)|Renal(390;0.000219)|Breast(348;0.00222)|Ovarian(437;0.00308)|Myeloproliferative disorder(586;0.0255) UCEC - Uterine corpus endometrioid carcinoma (279;0.0498)|OV - Ovarian serous cystadenocarcinoma(117;1.14e-26)|Colorectal(126;4.18e-07)|COAD - Colon adenocarcinoma(152;1.82e-05)|GBM - Glioblastoma multiforme(114;3.13e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000756)|STAD - Stomach adenocarcinoma(196;0.00656)|KIRC - Kidney renal clear cell carcinoma(1967;0.00942)|READ - Rectum adenocarcinoma(331;0.0721)|Lung(427;0.223) Becaplermin(DB00102)|Palifermin(DB00039) GATGGGCATGGAGCTGCCAGG 0.597000 49 25 0 0 0.00127121 0 0 ENPP1 5167 broad.mit.edu 37 6 132168966 132168966 + Silent SNP G A A TCGA-EE-A3AC-06A-11D-A196-08 TCGA-EE-A3AC-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 883d623b-c427-4444-9ee3-66d18648130f f8f00311-8db5-4187-bcb8-5054d9fbdac3 g.chr6:132168966G>A uc011ecf.2 + 1 311 c.291G>A c.(289-291)ttG>ttA p.L97L NM_006208 NP_006199 P22413 ENPP1_HUMAN Homo sapiens ectonucleotide pyrophosphatase/phosphodiesterase 1 (ENPP1), mRNA. 97 3'-phosphoadenosine 5'-phosphosulfate metabolic process|biomineral tissue development|cellular phosphate ion homeostasis|cellular response to insulin stimulus|generation of precursor metabolites and energy|immune response|inorganic diphosphate transport|negative regulation of cell growth|negative regulation of fat cell differentiation|negative regulation of glucose import|negative regulation of glycogen biosynthetic process|negative regulation of insulin receptor signaling pathway|negative regulation of protein autophosphorylation|nucleoside triphosphate catabolic process|phosphate metabolic process|sequestering of triglyceride|water-soluble vitamin metabolic process basolateral plasma membrane|cell surface|extracellular space|integral to membrane ATP binding|insulin receptor binding|metal ion binding|nucleic acid binding|nucleoside-triphosphate diphosphatase activity|nucleotide diphosphatase activity|phosphodiesterase I activity|polysaccharide binding|protein homodimerization activity|scavenger receptor activity autonomic_ganglia(1)|breast(2)|endometrium(1)|kidney(3)|large_intestine(8)|lung(22)|ovary(2)|prostate(2)|skin(3)|upper_aerodigestive_tract(2) 46 Breast(56;0.0505) GBM - Glioblastoma multiforme(226;0.0216)|OV - Ovarian serous cystadenocarcinoma(155;0.022) Amifostine(DB01143)|Ribavirin(DB00811) TATTTGGGTTGAAACCAAGCT 0.358000 6 16 0 0 0.000958276 0 0 SLC2A7 155184 broad.mit.edu 37 1 9073680 9073680 + Silent SNP C T T rs146907896 TCGA-EE-A3AC-06A-11D-A196-08 TCGA-EE-A3AC-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 883d623b-c427-4444-9ee3-66d18648130f f8f00311-8db5-4187-bcb8-5054d9fbdac3 g.chr1:9073680C>T uc009vmo.1 - 7 918 c.918G>A c.(916-918)gcG>gcA p.A306A NM_207420 NP_997303 Q6PXP3 GTR7_HUMAN Homo sapiens solute carrier family 2 (facilitated glucose transporter), member 7 (SLC2A7), mRNA. 306 integral to membrane|plasma membrane sugar transmembrane transporter activity NS(1)|breast(1)|endometrium(4)|large_intestine(10)|lung(4)|prostate(2)|skin(2) 24 Ovarian(185;0.112)|all_lung(157;0.185) all_epithelial(116;1.34e-15)|all_lung(118;9.46e-05)|Lung NSC(185;0.000172)|Renal(390;0.000469)|Colorectal(325;0.0062)|Breast(348;0.00715)|Hepatocellular(190;0.0228)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.104) UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;6.04e-07)|COAD - Colon adenocarcinoma(227;7.66e-05)|Kidney(185;0.000249)|KIRC - Kidney renal clear cell carcinoma(229;0.000911)|STAD - Stomach adenocarcinoma(132;0.00177)|BRCA - Breast invasive adenocarcinoma(304;0.00185)|READ - Rectum adenocarcinoma(331;0.0642) AGATGGTGTCCGCATAGTAGT 0.532000 22 19 0 0 0.00188189 0 0 FIGF 2277 broad.mit.edu 37 X 15364352 15364352 + Missense_Mutation SNP C A A TCGA-EE-A3AC-06A-11D-A196-08 TCGA-EE-A3AC-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 883d623b-c427-4444-9ee3-66d18648130f f8f00311-8db5-4187-bcb8-5054d9fbdac3 g.chrX:15364352C>A uc004cwt.2 - 6 1435 c.968G>T c.(967-969)aGa>aTa p.R323I FIGF_uc022bth.1_Non-coding_Transcript NM_004469 NP_004460 O43915 VEGFD_HUMAN Homo sapiens c-fos induced growth factor (vascular endothelial growth factor D) (FIGF), mRNA. 323 angiogenesis|cell differentiation|induction of positive chemotaxis|platelet activation|platelet degranulation|positive regulation of cell division|positive regulation of cell proliferation|positive regulation of mast cell chemotaxis|vascular endothelial growth factor receptor signaling pathway extracellular space|membrane|platelet alpha granule lumen chemoattractant activity|growth factor activity|platelet-derived growth factor receptor binding NS(1)|breast(2)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(5)|ovary(1)|skin(1) 17 Hepatocellular(33;0.183) TGCACATGGTCTGGTATGAAA 0.458000 7 35 3.2961e-07 1.51122e-06 0.000953801 1 0 PRODH2 58510 broad.mit.edu 37 19 36303125 36303125 + Silent SNP G A A TCGA-EE-A3AC-06A-11D-A196-08 TCGA-EE-A3AC-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 883d623b-c427-4444-9ee3-66d18648130f f8f00311-8db5-4187-bcb8-5054d9fbdac3 g.chr19:36303125G>A uc002obx.1 - 3 667 c.649C>T c.(649-651)Ctg>Ttg p.L217L NM_021232 NP_067055 Q9UF12 PROD2_HUMAN Homo sapiens proline dehydrogenase (oxidase) 2 (PRODH2), mRNA. 217 glutamate biosynthetic process|proline catabolic process proline dehydrogenase activity haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(1)|lung(9)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(1) 21 all_lung(56;2.87e-07)|Lung NSC(56;4.32e-07)|Esophageal squamous(110;0.162) LUSC - Lung squamous cell carcinoma(66;0.0515) CCCCGTGACAGGTCCACACAC 0.652000 14 16 0 0 0.000566183 0 0 SLC16A14 151473 broad.mit.edu 37 2 230910801 230910801 + Silent SNP C T T TCGA-EE-A3AC-06A-11D-A196-08 TCGA-EE-A3AC-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 883d623b-c427-4444-9ee3-66d18648130f f8f00311-8db5-4187-bcb8-5054d9fbdac3 g.chr2:230910801C>T uc002vqd.2 - 3 1500 c.1041G>A c.(1039-1041)tcG>tcA p.S347S FBXO36_uc010fxi.1_Intron|SLC16A14_uc002vqe.3_Silent_p.S347S|SLC16A14_uc002vqf.3_Silent_p.S347S NM_152527 NP_689740 Q7RTX9 MOT14_HUMAN Homo sapiens solute carrier family 16, member 14 (monocarboxylic acid transporter 14) (SLC16A14), mRNA. 347 integral to membrane|plasma membrane symporter activity NS(1)|cervix(1)|endometrium(7)|large_intestine(7)|lung(3)|ovary(5)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 28 Renal(207;0.025)|all_hematologic(139;0.122)|all_lung(227;0.149)|Acute lymphoblastic leukemia(138;0.164) Epithelial(121;7.31e-13)|all cancers(144;5.1e-10)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(119;0.00948) CGTTTTGCTCCGATAAGTTAT 0.423000 21 8 0 0 0.000274275 0 0 KIF23 9493 broad.mit.edu 37 15 69728068 69728068 + Silent SNP C T T TCGA-EE-A3AC-06A-11D-A196-08 TCGA-EE-A3AC-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 883d623b-c427-4444-9ee3-66d18648130f f8f00311-8db5-4187-bcb8-5054d9fbdac3 g.chr15:69728068C>T uc002asb.3 + 11 1408 c.1230C>T c.(1228-1230)atC>atT p.I410I KIF23_uc002asc.3_Silent_p.I410I|KIF23_uc010bii.3_Silent_p.I300I|KIF23_uc010ukc.2_Silent_p.I227I|KIF23_uc010bih.2_Non-coding_Transcript NM_138555 NP_612565 Q02241 KIF23_HUMAN Homo sapiens kinesin family member 23 (KIF23), transcript variant 1, mRNA. 410 blood coagulation|cytokinesis|microtubule-based movement|mitosis|mitotic spindle elongation cytosol|kinesin complex|microtubule|midbody|nucleoplasm|spindle ATP binding|microtubule motor activity|protein binding central_nervous_system(1)|endometrium(4)|large_intestine(7)|lung(6)|prostate(2)|skin(1) 21 TGCGGATGATCGTGTGTGTGA 0.368000 44 35 0 0 0.00058488 0 0 STK33 65975 broad.mit.edu 37 11 8486300 8486300 + Missense_Mutation SNP C T T TCGA-EE-A3AC-06A-11D-A196-08 TCGA-EE-A3AC-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 883d623b-c427-4444-9ee3-66d18648130f f8f00311-8db5-4187-bcb8-5054d9fbdac3 g.chr11:8486300C>T uc001mgi.1 - 2 1328 c.409G>A c.(409-411)Gaa>Aaa p.E137K STK33_uc001mgj.1_Missense_Mutation_p.E137K|STK33_uc001mgk.1_Missense_Mutation_p.E137K|STK33_uc010rbn.1_Missense_Mutation_p.E96K|STK33_uc001mgl.3_5'UTR|STK33_uc009yfp.3_Intron NM_030906 NP_112168 Q9BYT3 STK33_HUMAN Homo sapiens serine/threonine kinase 33 (STK33), mRNA. 137 Protein kinase. Golgi apparatus|nucleus|perinuclear region of cytoplasm ATP binding|protein serine/threonine kinase activity NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(9)|ovary(2)|pancreas(1)|skin(3) 23 Epithelial(150;2.13e-06)|BRCA - Breast invasive adenocarcinoma(625;0.239) GTTTCTGTTTCCTTGTCTGTC 0.408000 57 27 0 0 0.000491102 0 0 OR1B1 347169 broad.mit.edu 37 9 125391722 125391722 + Silent SNP G A A TCGA-EE-A3AC-06A-11D-A196-08 TCGA-EE-A3AC-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 883d623b-c427-4444-9ee3-66d18648130f f8f00311-8db5-4187-bcb8-5054d9fbdac3 g.chr9:125391722G>A uc011lyz.2 - 0 93 c.93C>T c.(91-93)ttC>ttT p.F31F NM_001004450 NP_001004450 Q8NGR6 OR1B1_HUMAN Homo sapiens olfactory receptor, family 1, subfamily B, member 1 (OR1B1), mRNA. 31 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity breast(1)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(3)|lung(6)|prostate(1) 16 CCAGGAACAGGAAGAAGAGGA 0.498000 32 16 0 0 0.000422831 0 0 ANKRD27 84079 broad.mit.edu 37 19 33119636 33119636 + Silent SNP G A A TCGA-EE-A3AC-06A-11D-A196-08 TCGA-EE-A3AC-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 883d623b-c427-4444-9ee3-66d18648130f f8f00311-8db5-4187-bcb8-5054d9fbdac3 g.chr19:33119636G>A uc002ntn.1 - 13 1485 c.1329C>T c.(1327-1329)ctC>ctT p.L443L NM_032139 NP_115515 Q96NW4 ANR27_HUMAN Homo sapiens ankyrin repeat domain 27 (VPS9 domain) (ANKRD27), mRNA. 443 early endosome to late endosome transport early endosome|lysosome GTPase activator activity|guanyl-nucleotide exchange factor activity breast(3)|endometrium(7)|kidney(2)|large_intestine(6)|lung(15)|ovary(3)|pancreas(1)|prostate(1)|skin(2)|urinary_tract(2) 42 Esophageal squamous(110;0.137) ACCCAGAGACGAGTTTCTCAC 0.527000 48 33 0 0 0.00170553 0 0 BCL6 604 broad.mit.edu 37 3 187447572 187447572 + Silent SNP G A A TCGA-EE-A3AC-06A-11D-A196-08 TCGA-EE-A3AC-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 883d623b-c427-4444-9ee3-66d18648130f f8f00311-8db5-4187-bcb8-5054d9fbdac3 g.chr3:187447572G>A uc003frp.3 - 4 1078 c.621C>T c.(619-621)ctC>ctT p.L207L LOC100131635_uc021xio.1_Intron|BCL6_uc011bsf.1_Silent_p.L207L|BCL6_uc010hza.2_Silent_p.L105L|BCL6_uc003frq.2_Silent_p.L207L NM_001130845 NP_001697 P41182 BCL6_HUMAN Homo sapiens B-cell CLL/lymphoma 6 (BCL6), transcript variant 2, mRNA. 207 negative regulation of B cell apoptosis|negative regulation of S phase of mitotic cell cycle|negative regulation of cell growth|negative regulation of transcription from RNA polymerase II promoter|positive regulation of apoptosis|protein import into nucleus, translocation|regulation of germinal center formation|response to DNA damage stimulus nucleus protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(5)|kidney(3)|large_intestine(9)|lung(10)|ovary(3)|prostate(4)|skin(1)|upper_aerodigestive_tract(1) 40 all_cancers(143;9.45e-12)|Ovarian(172;0.0418) OV - Ovarian serous cystadenocarcinoma(80;1.76e-18) GBM - Glioblastoma multiforme(93;0.0141) CATCGGAGAAGAGGAGGCTGC 0.617000 """T, Mis""" """IG loci, ZNFN1A1, LCP1, PIM1, TFRC, CIITA, NACA, HSPCB, HSPCA, HIST1H4I, IL21R, POU2AF1, ARHH, EIF4A2, SFRS3""" """NHL, CLL""" 18 13 0 0 0.00136819 0 0 TRIM65 201292 broad.mit.edu 37 17 73887135 73887135 + Missense_Mutation SNP C G G rs145909647 TCGA-EE-A3AC-06A-11D-A196-08 TCGA-EE-A3AC-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 883d623b-c427-4444-9ee3-66d18648130f f8f00311-8db5-4187-bcb8-5054d9fbdac3 g.chr17:73887135C>G uc002jpx.3 - 5 1315 c.1279G>C c.(1279-1281)Gtc>Ctc p.V427L NM_173547 NP_775818 Q6PJ69 TRI65_HUMAN Homo sapiens tripartite motif containing 65 (TRIM65), transcript variant 1, mRNA. 427 B30.2/SPRY. intracellular zinc ion binding endometrium(1)|kidney(1)|lung(5)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 12 Epithelial(20;7.53e-06)|all cancers(21;9.11e-06)|BRCA - Breast invasive adenocarcinoma(9;0.00092)|LUSC - Lung squamous cell carcinoma(166;0.154) TCCTCCTGGACGCAGAGCCCC 0.692000 10 4 0 0 0.00024832 0 0 SGCA 6442 broad.mit.edu 37 17 48245370 48245370 + Silent SNP G A A TCGA-EE-A3AC-06A-11D-A196-08 TCGA-EE-A3AC-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 883d623b-c427-4444-9ee3-66d18648130f f8f00311-8db5-4187-bcb8-5054d9fbdac3 g.chr17:48245370G>A uc002iqi.3 + 3 411 c.375G>A c.(373-375)ggG>ggA p.G125G SGCA_uc010wmh.1_Silent_p.G23G|SGCA_uc002iqj.3_Silent_p.G125G|SGCA_uc010wmi.2_Non-coding_Transcript NM_000023 NP_000014 Q16586 SGCA_HUMAN Homo sapiens sarcoglycan, alpha (50kDa dystrophin-associated glycoprotein) (SGCA), transcript variant 1, mRNA. 125 muscle contraction|muscle organ development cytoplasm|cytoskeleton|integral to membrane|sarcoglycan complex|sarcolemma calcium ion binding breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|lung(7)|ovary(2)|skin(1) 14 TGGAGATTGGGGACCCAGAAG 0.602000 65 27 0 0 0.00106085 0 0 HFE2 148738 broad.mit.edu 37 1 145415781 145415781 + Silent SNP T C C TCGA-EE-A3AC-06A-11D-A196-08 TCGA-EE-A3AC-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 883d623b-c427-4444-9ee3-66d18648130f f8f00311-8db5-4187-bcb8-5054d9fbdac3 g.chr1:145415781T>C uc001eni.2 + 2 925 c.600T>C c.(598-600)ttT>ttC p.F200F HFE2_uc001enk.2_Silent_p.F87F|HFE2_uc001enj.2_Intron|HFE2_uc001enl.2_Intron|HFE2_uc021oux.1_5'Flank NM_213653 NP_660320 Q6ZVN8 RGMC_HUMAN Homo sapiens hemochromatosis type 2 (juvenile) (HFE2), transcript variant a, mRNA. 200 axon guidance anchored to membrane central_nervous_system(1)|endometrium(1)|large_intestine(3)|lung(7)|ovary(1)|pancreas(1) 14 all_hematologic(18;0.0187)|Acute lymphoblastic leukemia(18;0.0786) ACTTCCTCTTTGTCCAAGCCA 0.582000 92 29 0 0 0.00127121 0 0 TRIP13 9319 broad.mit.edu 37 5 896822 896822 + Nonsense_Mutation SNP C T T TCGA-EE-A3AC-06A-11D-A196-08 TCGA-EE-A3AC-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 883d623b-c427-4444-9ee3-66d18648130f f8f00311-8db5-4187-bcb8-5054d9fbdac3 g.chr5:896822C>T uc003jbr.3 + 2 446 c.301C>T c.(301-303)Cag>Tag p.Q101* TRIP13_uc010ite.2_Nonsense_Mutation_p.Q101* NM_004237 NP_004228 Q15645 PCH2_HUMAN Homo sapiens thyroid hormone receptor interactor 13 (TRIP13), transcript variant 1, mRNA. 101 double-strand break repair|reciprocal meiotic recombination|synaptonemal complex assembly|transcription from RNA polymerase II promoter ATP binding|identical protein binding|nucleoside-triphosphatase activity|transcription cofactor activity breast(1)|endometrium(2)|kidney(2)|large_intestine(1)|lung(9)|ovary(1)|prostate(1)|skin(1) 18 Epithelial(17;0.00147)|OV - Ovarian serous cystadenocarcinoma(19;0.00271)|all cancers(22;0.00622)|Lung(60;0.165) TCACATTTTCCAGCTGAATGA 0.448000 42 31 0 0 0.00058488 0 0 DRGX 644168 broad.mit.edu 37 10 50599893 50599893 + Silent SNP G A A TCGA-EE-A3AC-06A-11D-A196-08 TCGA-EE-A3AC-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 883d623b-c427-4444-9ee3-66d18648130f f8f00311-8db5-4187-bcb8-5054d9fbdac3 g.chr10:50599893G>A uc010qgq.2 - 0 15 c.15C>T c.(13-15)agC>agT p.S5S DRGX_uc021pqd.1_Intron NM_001080520 NP_001073989 C9JW76 C9JW76_HUMAN Homo sapiens dorsal root ganglia homeobox (DRGX), mRNA. 5 multicellular organismal development nucleus sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity breast(2)|endometrium(1)|kidney(1)|large_intestine(2)|lung(5) 11 GTTGGTCACAGCTCATCAGCA 0.398000 8 4 0 0 0.00024832 0 0 FRAS1 80144 broad.mit.edu 37 4 79366741 79366741 + Missense_Mutation SNP G A A TCGA-EE-A3AC-06A-11D-A196-08 TCGA-EE-A3AC-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 883d623b-c427-4444-9ee3-66d18648130f f8f00311-8db5-4187-bcb8-5054d9fbdac3 g.chr4:79366741G>A uc003hlb.2 + 41 6171 c.5731G>A c.(5731-5733)Gaa>Aaa p.E1911K FRAS1_uc003hkw.3_Missense_Mutation_p.E1911K|FRAS1_uc010ijj.2_Missense_Mutation_p.E331K NM_025074 NP_079350 Q86XX4 FRAS1_HUMAN Homo sapiens Fraser syndrome 1 (FRAS1), transcript variant 1, mRNA. 1910 cell communication integral to membrane|plasma membrane metal ion binding breast(2)|central_nervous_system(2)|cervix(2)|endometrium(14)|haematopoietic_and_lymphoid_tissue(2)|kidney(9)|large_intestine(5)|lung(54)|prostate(7)|skin(2)|urinary_tract(4) 103 AGACGTCCTGGAAAACTACAT 0.398000 60 33 0 0 0.0024448 0 0 TNKS1BP1 85456 broad.mit.edu 37 11 57070167 57070167 + Missense_Mutation SNP C G G TCGA-EE-A3AC-06A-11D-A196-08 TCGA-EE-A3AC-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 883d623b-c427-4444-9ee3-66d18648130f f8f00311-8db5-4187-bcb8-5054d9fbdac3 g.chr11:57070167C>G uc001njr.3 - 5 4761 c.4449G>C c.(4447-4449)gaG>gaC p.E1483D TNKS1BP1_uc001njq.3_Missense_Mutation_p.E55D|TNKS1BP1_uc001njs.3_Missense_Mutation_p.E1483D NM_033396 NP_203754 Q9C0C2 TB182_HUMAN Homo sapiens tankyrase 1 binding protein 1, 182kDa (TNKS1BP1), mRNA. 1483 Acidic.|Tankyrase-binding. nuclear-transcribed mRNA poly(A) tail shortening|telomere maintenance via telomerase cytoskeleton|cytosol|nuclear telomeric heterochromatin ankyrin binding|enzyme binding breast(3)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(11)|lung(24)|ovary(3)|prostate(3)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(1) 64 all_epithelial(135;0.21) CTCCTTCCTCCTCCAACAGGC 0.711000 10 6 0 0 0.000442599 0 0 C17orf66 256957 broad.mit.edu 37 17 34192286 34192286 + Missense_Mutation SNP C T T TCGA-EE-A3AC-06A-11D-A196-08 TCGA-EE-A3AC-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 883d623b-c427-4444-9ee3-66d18648130f f8f00311-8db5-4187-bcb8-5054d9fbdac3 g.chr17:34192286C>T uc002hke.1 - 2 402 c.253G>A c.(253-255)Gac>Aac p.D85N C17orf66_uc010wck.1_Non-coding_Transcript|C17orf66_uc010wcl.1_Missense_Mutation_p.D85N|C17orf66_uc010wcm.1_Missense_Mutation_p.D51N NM_152781 NP_689994 A2RTY3 CQ066_HUMAN Homo sapiens chromosome 17 open reading frame 66 (C17orf66), mRNA. 85 binding p.H84Q(2) breast(3)|central_nervous_system(1)|cervix(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(6)|lung(11)|skin(2)|stomach(4) 38 Ovarian(249;0.17) UCEC - Uterine corpus endometrioid carcinoma (308;0.0184) TCATACAGGTCGTGCCAGTGC 0.512000 61 22 0 0 0.001512 0 0 THSD1 55901 broad.mit.edu 37 13 52952920 52952920 + Silent SNP G A A TCGA-EE-A3AC-06A-11D-A196-08 TCGA-EE-A3AC-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 883d623b-c427-4444-9ee3-66d18648130f f8f00311-8db5-4187-bcb8-5054d9fbdac3 g.chr13:52952920G>A uc001vgo.3 - 4 1730 c.1185C>T c.(1183-1185)ttC>ttT p.F395F THSD1_uc001vgp.3_Silent_p.F342F|THSD1_uc010tgz.2_Silent_p.F16F NM_018676 NP_061146 Q9NS62 THSD1_HUMAN Homo sapiens thrombospondin, type I, domain containing 1 (THSD1), transcript variant 1, mRNA. 395 extracellular region|integral to membrane|intracellular membrane-bounded organelle breast(2)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(5)|lung(11)|ovary(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 30 Breast(56;0.000207)|Lung NSC(96;0.00145)|Hepatocellular(98;0.065)|Prostate(109;0.0771)|all_neural(104;0.173) GBM - Glioblastoma multiforme(99;2.8e-08) TGGATGGCTGGAAAGCTGcaa 0.368000 18 12 0 0 0.000978159 0 0 ZNF311 282890 broad.mit.edu 37 6 28962847 28962847 + Silent SNP C T T TCGA-EE-A3AC-06A-11D-A196-08 TCGA-EE-A3AC-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 883d623b-c427-4444-9ee3-66d18648130f f8f00311-8db5-4187-bcb8-5054d9fbdac3 g.chr6:28962847C>T uc003nlu.2 - 6 2443 c.1932G>A c.(1930-1932)ggG>ggA p.G644G ZNF311_uc011dlk.1_Silent_p.G552G|ZNF311_uc003nlv.2_Silent_p.G552G NM_001010877 NP_001010877 Q5JNZ3 ZN311_HUMAN Homo sapiens zinc finger protein 311 (ZNF311), mRNA. 644 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|protein binding|zinc ion binding NS(1)|breast(4)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(11)|skin(3)|upper_aerodigestive_tract(2) 28 ATTTCCTACTCCCATCAAGTT 0.398000 20 16 0 0 0.00074312 0 0 SCN11A 11280 broad.mit.edu 37 3 38946752 38946752 + Missense_Mutation SNP C T T TCGA-EE-A3AC-06A-11D-A196-08 TCGA-EE-A3AC-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 883d623b-c427-4444-9ee3-66d18648130f f8f00311-8db5-4187-bcb8-5054d9fbdac3 g.chr3:38946752C>T uc021wvy.1 - 10 1733 c.1534G>A c.(1534-1536)Gag>Aag p.E512K NM_014139 NP_054858 Q9UI33 SCNBA_HUMAN Homo sapiens sodium channel, voltage-gated, type XI, alpha subunit (SCN11A), mRNA. 512 response to drug voltage-gated sodium channel complex voltage-gated sodium channel activity NS(3)|biliary_tract(1)|breast(4)|cervix(2)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(29)|lung(29)|ovary(3)|pancreas(2)|prostate(12)|skin(14)|upper_aerodigestive_tract(5)|urinary_tract(3) 119 Kidney(284;0.00202)|KIRC - Kidney renal clear cell carcinoma(284;0.00226) Cocaine(DB00907) TCTCCATGCTCATCAAAGTGG 0.507000 55 40 0 0 0.00170553 0 0 ZFP28 140612 broad.mit.edu 37 19 57059204 57059204 + Silent SNP C T T TCGA-EE-A3AC-06A-11D-A196-08 TCGA-EE-A3AC-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 883d623b-c427-4444-9ee3-66d18648130f f8f00311-8db5-4187-bcb8-5054d9fbdac3 g.chr19:57059204C>T uc002qnj.3 + 3 527 c.456C>T c.(454-456)atC>atT p.I152I ZFP28_uc002qni.3_Silent_p.I152I|BX647249_uc002qnk.1_Intron NM_020828 NP_065879 Q8NHY6 ZFP28_HUMAN Homo sapiens zinc finger protein 28 homolog (mouse) (ZFP28), mRNA. 152 KRAB 1. regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding p.I152M(2) breast(1)|endometrium(2)|kidney(1)|large_intestine(14)|lung(6)|ovary(1)|prostate(3)|skin(4)|stomach(2)|upper_aerodigestive_tract(1) 35 Colorectal(82;0.000256)|Ovarian(87;0.243) GBM - Glioblastoma multiforme(193;0.0302) CCGATGTGATCTCCTCGTTGG 0.512000 54 29 0 0 0.000692331 0 0 SLC2A11 66035 broad.mit.edu 37 22 24226491 24226491 + Missense_Mutation SNP G A A TCGA-EE-A3AC-06A-11D-A196-08 TCGA-EE-A3AC-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 883d623b-c427-4444-9ee3-66d18648130f f8f00311-8db5-4187-bcb8-5054d9fbdac3 g.chr22:24226491G>A uc011ajc.1 + 9 1649 c.1159G>A c.(1159-1161)Gga>Aga p.G387R SLC2A11_uc002zym.4_Missense_Mutation_p.G396R|SLC2A11_uc002zyn.4_Missense_Mutation_p.G389R|SLC2A11_uc002zyo.4_Non-coding_Transcript|SLC2A11_uc002zyp.4_Missense_Mutation_p.G392R Q9BYW1 GTR11_HUMAN Homo sapiens solute carrier family 2 (facilitated glucose transporter), member 11 (SLC2A11), transcript variant 1, mRNA. 389 integral to membrane|plasma membrane sugar transmembrane transporter activity endometrium(2)|kidney(1)|large_intestine(2)|lung(3)|ovary(1)|prostate(1)|skin(2) 12 CCTTCTAGCCGGAGTGACGGG 0.672000 15 9 0 0 0.000442599 0 0 TCF4 6925 broad.mit.edu 37 18 52895576 52895576 + Silent SNP C T T TCGA-EE-A3AC-06A-11D-A196-08 TCGA-EE-A3AC-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 883d623b-c427-4444-9ee3-66d18648130f f8f00311-8db5-4187-bcb8-5054d9fbdac3 g.chr18:52895576C>T uc002lga.3 - 19 2262 c.2202G>A c.(2200-2202)ccG>ccA p.P734P TCF4_uc021ukg.1_Silent_p.P468P|TCF4_uc021ukh.1_Silent_p.P468P|TCF4_uc002lfw.4_Silent_p.P472P|TCF4_uc010xdu.1_Silent_p.P498P|TCF4_uc010xdv.1_Silent_p.P498P|TCF4_uc021uki.1_Silent_p.P557P|TCF4_uc002lfx.2_Silent_p.P561P|TCF4_uc010xdw.1_Silent_p.P498P|TCF4_uc002lfy.2_Silent_p.P586P|TCF4_uc010xdx.1_Silent_p.P604P|TCF4_uc021ukj.1_Silent_p.P568P|TCF4_uc021ukk.1_Silent_p.P572P|TCF4_uc021ukl.1_Silent_p.P625P|TCF4_uc002lfz.2_Silent_p.P628P|TCF4_uc010dph.1_Silent_p.P632P|TCF4_uc010dpi.3_Silent_p.P638P|TCF4_uc010xdy.1_Silent_p.P608P NM_001243226 NP_001230155 P15884 ITF2_HUMAN Homo sapiens transcription factor 4 (TCF4), transcript variant 3, mRNA. 628 positive regulation of neuron differentiation|protein-DNA complex assembly|transcription initiation from RNA polymerase II promoter transcription factor complex E-box binding|RNA polymerase II core promoter proximal region sequence-specific DNA binding|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription|TFIIB-class binding transcription factor activity|TFIIB-class transcription factor binding|protein C-terminus binding|protein heterodimerization activity|sequence-specific DNA binding RNA polymerase recruiting transcription factor activity breast(1)|central_nervous_system(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(4)|lung(15)|ovary(1)|prostate(1)|skin(5)|urinary_tract(1) 41 Colorectal(16;0.00108)|READ - Rectum adenocarcinoma(59;0.0649)|COAD - Colon adenocarcinoma(17;0.0718) ACGCAGCTTTCGGATTCAGAT 0.532000 73 52 0 0 0.000781405 0 0 WNT3A 89780 broad.mit.edu 37 1 228246896 228246896 + Silent SNP C T T TCGA-EE-A3AC-06A-11D-A196-08 TCGA-EE-A3AC-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 883d623b-c427-4444-9ee3-66d18648130f f8f00311-8db5-4187-bcb8-5054d9fbdac3 g.chr1:228246896C>T uc001hrp.2 + 3 896 c.789C>T c.(787-789)ttC>ttT p.F263F WNT3A_uc001hrq.2_Silent_p.F263F NM_033131 NP_149122 P56704 WNT3A_HUMAN Homo sapiens wingless-type MMTV integration site family, member 3A (WNT3A), mRNA. 263 Wnt receptor signaling pathway involved in forebrain neuroblast division|Wnt receptor signaling pathway, calcium modulating pathway|axis specification|cell proliferation in forebrain|cell-cell signaling|cellular response to retinoic acid|convergent extension|dermatome development|dorsal/ventral neural tube patterning|embryonic pattern specification|extracellular matrix organization|hemopoietic stem cell proliferation|hippocampus development|inner ear morphogenesis|mammary gland development|midbrain-hindbrain boundary development|negative regulation of fat cell differentiation|negative regulation of heart induction by canonical Wnt receptor signaling pathway|negative regulation of neuron projection development|notochord development|palate development|paraxial mesodermal cell fate commitment|positive regulation of catenin import into nucleus|positive regulation of peptidyl-serine phosphorylation|positive regulation of protein binding|positive regulation of receptor internalization|positive regulation of transcription from RNA polymerase II promoter|signalosome assembly|tail morphogenesis cell surface|early endosome|extracellular space|late endosome|membrane raft|plasma membrane|proteinaceous extracellular matrix extracellular matrix structural constituent|frizzled-2 binding|receptor agonist activity|signal transducer activity|transcription coactivator activity kidney(1)|large_intestine(3)|lung(6)|ovary(1)|pancreas(1) 12 Prostate(94;0.0405) ACACCTACTTCAAGGTGCCCA 0.667000 27 7 0 0 0.00198382 0 0 EPHA6 285220 broad.mit.edu 37 3 96706808 96706808 + Missense_Mutation SNP G A A TCGA-EE-A3AC-06A-11D-A196-08 TCGA-EE-A3AC-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 883d623b-c427-4444-9ee3-66d18648130f f8f00311-8db5-4187-bcb8-5054d9fbdac3 g.chr3:96706808G>A uc010how.1 + 2 1128 c.1085G>A c.(1084-1086)gGa>gAa p.G362E EPHA6_uc003drp.1_Missense_Mutation_p.G362E NM_001080448 NP_001073917 Q9UF33 EPHA6_HUMAN Homo sapiens EPH receptor A6 (EPHA6), transcript variant 1, mRNA. 267 Fibronectin type-III 1. integral to plasma membrane ATP binding|ephrin receptor activity NS(1)|breast(1)|central_nervous_system(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(6)|liver(2)|lung(60)|ovary(3)|skin(11)|stomach(5)|upper_aerodigestive_tract(2) 101 TGCAGTACAGGATATGAAGAA 0.348000 18 14 0 0 0.00185496 0 0 C11orf70 85016 broad.mit.edu 37 11 101937378 101937378 + Missense_Mutation SNP G A A TCGA-EE-A3AC-06A-11D-A196-08 TCGA-EE-A3AC-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 883d623b-c427-4444-9ee3-66d18648130f f8f00311-8db5-4187-bcb8-5054d9fbdac3 g.chr11:101937378G>A uc001pgp.3 + 3 464 c.431G>A c.(430-432)cGa>cAa p.R144Q C11orf70_uc001pgo.3_Intron|C11orf70_uc001pgq.3_Missense_Mutation_p.R106Q NM_032930 NP_116319 Q9BRQ4 CK070_HUMAN Homo sapiens chromosome 11 open reading frame 70 (C11orf70), transcript variant 1, mRNA. 144 p.R106Q(1) breast(1)|kidney(1)|lung(5)|ovary(1)|prostate(2)|skin(2) 12 all_epithelial(12;0.0137) Acute lymphoblastic leukemia(157;0.000966)|all_hematologic(158;0.0137) Lung(13;0.245) BRCA - Breast invasive adenocarcinoma(274;0.0335) GATGAGTTACGAAGAGTAAGT 0.308000 52 27 0 0 0.000720815 0 0 OR5M11 219487 broad.mit.edu 37 11 56310364 56310364 + Missense_Mutation SNP C T T TCGA-EE-A3AC-06A-11D-A196-08 TCGA-EE-A3AC-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 883d623b-c427-4444-9ee3-66d18648130f f8f00311-8db5-4187-bcb8-5054d9fbdac3 g.chr11:56310364C>T uc010rjl.2 - 0 370 c.370G>A c.(370-372)Gcc>Acc p.A124T OR8U8_uc001nit.2_Intron NM_001005245 NP_001005245 Q96RB7 OR5MB_HUMAN Homo sapiens olfactory receptor, family 5, subfamily M, member 11 (OR5M11), mRNA. 124 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity central_nervous_system(1)|endometrium(2)|large_intestine(1)|lung(14) 18 TCATATATGGCCACATAGCGG 0.468000 13 13 0 0 0.00185496 0 0 ABAT 18 broad.mit.edu 37 16 8862081 8862082 + Missense_Mutation DNP CC AT AT TCGA-EE-A3AC-06A-11D-A196-08 TCGA-EE-A3AC-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 883d623b-c427-4444-9ee3-66d18648130f f8f00311-8db5-4187-bcb8-5054d9fbdac3 g.chr16:8862081_8862082CC>AT uc002czc.4 + 9 801_802 c.635_636CC>AT c.(634-636)tcc>tAT p.S212Y ABAT_uc002czd.4_Missense_Mutation_p.S212Y|ABAT_uc010buh.3_Missense_Mutation_p.S154Y|ABAT_uc010bui.3_Missense_Mutation_p.S212Y NM_020686 NP_065737 P80404 GABT_HUMAN Homo sapiens 4-aminobutyrate aminotransferase (ABAT), nuclear gene encoding mitochondrial protein, transcript variant 1, mRNA. 212 behavioral response to cocaine|gamma-aminobutyric acid catabolic process|neurotransmitter catabolic process|neurotransmitter secretion 4-aminobutyrate transaminase complex|mitochondrial matrix (S)-3-amino-2-methylpropionate transaminase activity|4-aminobutyrate transaminase activity|protein homodimerization activity|pyridoxal phosphate binding|succinate-semialdehyde dehydrogenase binding breast(2)|endometrium(3)|kidney(1)|large_intestine(5)|lung(10)|skin(3)|upper_aerodigestive_tract(2) 26 Divalproex sodium(DB00510)|Isoniazid(DB00951)|L-Alanine(DB00160)|L-Glutamic Acid(DB00142)|Pyridoxal Phosphate(DB00114)|Pyruvic acid(DB00119)|Tiagabine(DB00906)|Valproic Acid(DB00313)|Vigabatrin(DB01080) AGCATCCTCTCCTTCATGGGCG 0.515000 54 43 0 0 6.4e-05 0 0 ABCA8 10351 broad.mit.edu 37 17 66936982 66936982 + Missense_Mutation SNP G A A TCGA-EE-A3AC-06A-11D-A196-08 TCGA-EE-A3AC-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 883d623b-c427-4444-9ee3-66d18648130f f8f00311-8db5-4187-bcb8-5054d9fbdac3 g.chr17:66936982G>A uc002jhq.3 - 3 558 c.218C>T c.(217-219)tCc>tTc p.S73F ABCA8_uc002jhp.3_Missense_Mutation_p.S73F|ABCA8_uc010wqq.2_Missense_Mutation_p.S73F|ABCA8_uc010wqr.2_Missense_Mutation_p.S12F|ABCA8_uc002jhr.3_Missense_Mutation_p.S73F|ABCA8_uc002jhs.3_Missense_Mutation_p.S73F|ABCA8_uc002jht.3_Missense_Mutation_p.S73F NM_007168 NP_009099 O94911 ABCA8_HUMAN Homo sapiens ATP-binding cassette, sub-family A (ABC1), member 8 (ABCA8), mRNA. 73 integral to membrane|plasma membrane ATP binding|ATPase activity, coupled to transmembrane movement of substances breast(3)|central_nervous_system(2)|endometrium(9)|kidney(5)|large_intestine(19)|liver(1)|lung(30)|ovary(3)|pancreas(2)|prostate(2)|skin(3)|urinary_tract(4) 83 Breast(10;4.56e-13) AGAAAATCTGGATTCATTAAA 0.383000 25 41 0 0 0.00195071 0 0 MYO3B 140469 broad.mit.edu 37 2 171056660 171056660 + Splice_Site SNP G A A TCGA-EE-A3AC-06A-11D-A196-08 TCGA-EE-A3AC-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 883d623b-c427-4444-9ee3-66d18648130f f8f00311-8db5-4187-bcb8-5054d9fbdac3 g.chr2:171056660G>A uc002ufy.3 + 3 330 c.187_splice c.e3-1 p.D63_splice MYO3B_uc002ufv.3_Splice_Site_p.D50_splice|MYO3B_uc010fqb.1_Splice_Site_p.D63_splice|MYO3B_uc002ufz.3_Splice_Site_p.D63_splice|MYO3B_uc002ufw.3_Splice_Site|MYO3B_uc002ufx.3_Splice_Site|MYO3B_uc002uga.3_Splice_Site_p.D50_splice NM_138995 NP_620482 Q8WXR4 MYO3B_HUMAN Homo sapiens myosin IIIB (MYO3B), transcript variant 2, mRNA. 63 Protein kinase. response to stimulus|visual perception cytoplasm|myosin complex ATP binding|actin binding|motor activity|protein serine/threonine kinase activity p.D63Y(1) breast(1)|central_nervous_system(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(9)|lung(25)|ovary(6)|pancreas(1)|prostate(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(2) 59 CCCTGTTTAGGATATGGATGA 0.348000 19 13 0 0 0.00185496 0 0 PLXNC1 10154 broad.mit.edu 37 12 94699023 94699023 + Missense_Mutation SNP G A A TCGA-EE-A3AC-06A-11D-A196-08 TCGA-EE-A3AC-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 883d623b-c427-4444-9ee3-66d18648130f f8f00311-8db5-4187-bcb8-5054d9fbdac3 g.chr12:94699023G>A uc001tdc.3 + 30 4918 c.4669G>A c.(4669-4671)Gtc>Atc p.V1557I PLXNC1_uc010sut.2_Missense_Mutation_p.V604I|PLXNC1_uc009zsv.3_Missense_Mutation_p.V296I NM_005761 NP_005752 O60486 PLXC1_HUMAN Homo sapiens plexin C1 (PLXNC1), transcript variant 1, mRNA. 1557 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 GCATGTAAAAGTCTTATTTGA 0.388000 4 4 0 0 0.000602214 0 0 CACNA1D 776 broad.mit.edu 37 3 53736685 53736685 + Missense_Mutation SNP G A A TCGA-EE-A3AC-06A-11D-A196-08 TCGA-EE-A3AC-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 883d623b-c427-4444-9ee3-66d18648130f f8f00311-8db5-4187-bcb8-5054d9fbdac3 g.chr3:53736685G>A uc003dgv.4 + 8 1401 c.1238G>A c.(1237-1239)aGa>aAa p.R413K CACNA1D_uc003dgu.4_Missense_Mutation_p.R413K|CACNA1D_uc003dgy.4_Missense_Mutation_p.R413K|CACNA1D_uc003dgw.4_Missense_Mutation_p.R60K NM_001128840 NP_001122312 Q01668 CAC1D_HUMAN Homo sapiens calcium channel, voltage-dependent, L type, alpha 1D subunit (CACNA1D), transcript variant 2, mRNA. 413 axon guidance|energy reserve metabolic process|regulation of insulin secretion voltage-gated calcium channel complex voltage-gated calcium channel activity breast(3)|central_nervous_system(9)|cervix(2)|endometrium(11)|kidney(7)|large_intestine(13)|liver(1)|lung(29)|ovary(6)|prostate(2)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1) 90 BRCA - Breast invasive adenocarcinoma(193;0.00029)|KIRC - Kidney renal clear cell carcinoma(284;0.0145)|Kidney(284;0.0175)|OV - Ovarian serous cystadenocarcinoma(275;0.0613) Verapamil(DB00661) TCAAAGGAAAGAGAGAAGGCA 0.522000 24 16 0 0 0.000958276 0 0 PCDHGC5 56097 broad.mit.edu 37 5 140731332 140731332 + Missense_Mutation SNP C T T TCGA-EE-A3AC-06A-11D-A196-08 TCGA-EE-A3AC-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 883d623b-c427-4444-9ee3-66d18648130f f8f00311-8db5-4187-bcb8-5054d9fbdac3 g.chr5:140731332C>T uc003ljo.2 + 0 1505 c.1505C>T c.(1504-1506)tCc>tTc p.S502F PCDHGC5_uc003lji.2_Intron|PCDHGC5_uc003ljk.2_Intron|PCDHGC5_uc003ljm.2_Intron|PCDHGC5_uc011daq.2_Missense_Mutation_p.S502F NM_018922 NP_061745 Q9Y5F6 PCDGM_HUMAN Homo sapiens protocadherin gamma subfamily B, 1 (PCDHGB1), transcript variant 1, mRNA. 508 Cadherin 5. homophilic cell adhesion integral to membrane|plasma membrane calcium ion binding breast(2)|central_nervous_system(2)|endometrium(6)|kidney(4)|large_intestine(4)|lung(10)|ovary(4)|prostate(1)|urinary_tract(2) 35 KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191) TCCTACGTGTCCGTGAGCCCG 0.662000 30 14 0 0 0.000308642 0 0 TMEM61 199964 broad.mit.edu 37 1 55457526 55457526 + Missense_Mutation SNP A G G TCGA-EE-A3AC-06A-11D-A196-08 TCGA-EE-A3AC-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 883d623b-c427-4444-9ee3-66d18648130f f8f00311-8db5-4187-bcb8-5054d9fbdac3 g.chr1:55457526A>G uc001cyd.3 + 2 657 c.383A>G c.(382-384)gAc>gGc p.D128G NM_182532 NP_872338 Q8N0U2 TMM61_HUMAN Homo sapiens transmembrane protein 61 (TMEM61), mRNA. 128 integral to membrane endometrium(1)|lung(1)|prostate(1)|upper_aerodigestive_tract(1) 4 AAAGTGGTTGACATCCCCACT 0.632000 47 27 0 0 0.00178596 0 0 MARVELD3 91862 broad.mit.edu 37 16 71674572 71674572 + Missense_Mutation SNP G A A TCGA-EE-A3AC-06A-11D-A196-08 TCGA-EE-A3AC-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 883d623b-c427-4444-9ee3-66d18648130f f8f00311-8db5-4187-bcb8-5054d9fbdac3 g.chr16:71674572G>A uc002fau.3 + 2 938 c.875G>A c.(874-876)cGa>cAa p.R292Q PHLPP2_uc002fav.3_Non-coding_Transcript|MARVELD3_uc010cge.3_3'UTR NM_001017967 NP_001017967 Q96A59 MALD3_HUMAN Homo sapiens MARVEL domain containing 3 (MARVELD3), transcript variant 1, mRNA. 295 MARVEL. integral to membrane NS(1)|endometrium(3)|large_intestine(5)|lung(6)|skin(2) 17 Ovarian(137;0.125) GCCAAGAGTCGAACAATGTTG 0.587000 19 22 0 0 0.000586117 0 0 SLC22A25 387601 broad.mit.edu 37 11 62997062 62997062 + Missense_Mutation SNP C T T TCGA-EE-A3AC-06A-11D-A196-08 TCGA-EE-A3AC-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 883d623b-c427-4444-9ee3-66d18648130f f8f00311-8db5-4187-bcb8-5054d9fbdac3 g.chr11:62997062C>T uc001nwr.1 - 0 63 c.63G>A c.(61-63)atG>atA p.M21I SLC22A10_uc010rmo.1_Intron|SLC22A25_uc009yoq.1_Non-coding_Transcript|SLC22A25_uc001nws.1_Non-coding_Transcript|SLC22A25_uc001nwt.1_Missense_Mutation_p.M21I NM_199352 NP_955384 Q6T423 S22AP_HUMAN Homo sapiens solute carrier family 22, member 25 (SLC22A25), mRNA. 21 transmembrane transport integral to membrane NS(2)|breast(2)|endometrium(4)|kidney(2)|large_intestine(7)|lung(7)|ovary(3)|skin(7) 34 TAAGGAAAACCATCTGAAGGA 0.463000 35 8 0 0 0.000274275 0 0 PRIMA1 145270 broad.mit.edu 37 14 94203701 94203701 + Missense_Mutation SNP G A A TCGA-EE-A3AC-06A-11D-A196-08 TCGA-EE-A3AC-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 883d623b-c427-4444-9ee3-66d18648130f f8f00311-8db5-4187-bcb8-5054d9fbdac3 g.chr14:94203701G>A uc001ybw.1 - 3 287 c.245C>T c.(244-246)tCt>tTt p.S82F PRIMA1_uc001ybx.1_Non-coding_Transcript NM_178013 NP_821092 Q86XR5 PRIMA_HUMAN Homo sapiens proline rich membrane anchor 1 (PRIMA1), mRNA. 82 neurotransmitter catabolic process cell junction|integral to membrane|synapse endometrium(1)|large_intestine(2)|lung(3)|skin(1) 7 all_cancers(154;0.127) Epithelial(152;0.138)|COAD - Colon adenocarcinoma(157;0.229) AGTGGGGCAAGAGGTAGAGTT 0.552000 23 8 0 0 0.000274275 0 0 OR6K2 81448 broad.mit.edu 37 1 158669861 158669861 + Silent SNP G A A TCGA-EE-A3AC-06A-11D-A196-08 TCGA-EE-A3AC-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 883d623b-c427-4444-9ee3-66d18648130f f8f00311-8db5-4187-bcb8-5054d9fbdac3 g.chr1:158669861G>A uc001fsu.1 - 0 582 c.582C>T c.(580-582)atC>atT p.I194I NM_001005279 NP_001005279 Q8NGY2 OR6K2_HUMAN Homo sapiens olfactory receptor, family 6, subfamily K, member 2 (OR6K2), mRNA. 194 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity breast(1)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(7)|lung(22)|ovary(1)|pancreas(1)|prostate(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3) 46 all_hematologic(112;0.0378) GAATCATGACGATGGCTCGTG 0.468000 77 27 0 0 0.00058488 0 0 USH2A 7399 broad.mit.edu 37 1 215808037 215808037 + Silent SNP G A A TCGA-EE-A3AC-06A-11D-A196-08 TCGA-EE-A3AC-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 883d623b-c427-4444-9ee3-66d18648130f f8f00311-8db5-4187-bcb8-5054d9fbdac3 g.chr1:215808037G>A uc001hku.1 - 69 15448 c.15061C>T c.(15061-15063)Cta>Tta p.L5021L NM_206933 NP_996816 O75445 USH2A_HUMAN Homo sapiens Usher syndrome 2A (autosomal recessive, mild) (USH2A), transcript variant 2, mRNA. 5021 maintenance of organ identity|photoreceptor cell maintenance|response to stimulus|sensory perception of sound basement membrane|cytoplasm|integral to membrane|stereocilium membrane collagen binding NS(7)|breast(20)|central_nervous_system(3)|cervix(2)|endometrium(32)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(71)|liver(2)|lung(282)|ovary(25)|pancreas(2)|prostate(12)|skin(22)|stomach(7)|upper_aerodigestive_tract(20)|urinary_tract(3) 527 OV - Ovarian serous cystadenocarcinoma(81;0.0547)|all cancers(67;0.0875) GGAGTTGTTAGGACCAAGCCT 0.443000 HNSCC(13;0.011) 75 28 0 0 0.0024448 0 0 GLYATL1 92292 broad.mit.edu 37 11 58722282 58722282 + Missense_Mutation SNP C T T rs151204927 TCGA-EE-A3AC-06A-11D-A196-08 TCGA-EE-A3AC-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 883d623b-c427-4444-9ee3-66d18648130f f8f00311-8db5-4187-bcb8-5054d9fbdac3 g.chr11:58722282C>T uc001nnh.2 + 4 369 c.319C>T c.(319-321)Cgt>Tgt p.R107C GLYATL1_uc001nnf.3_Missense_Mutation_p.R76C|LOC283194_uc001nng.1_Intron|GLYATL1_uc001nni.2_Missense_Mutation_p.R76C|GLYATL1_uc001nnj.2_Missense_Mutation_p.R76C NM_080661 NP_542392 Q969I3 GLYL1_HUMAN Homo sapiens glycine-N-acyltransferase-like 1 (GLYATL1), transcript variant 1, mRNA. 76 mitochondrion glycine N-acyltransferase activity NS(1)|endometrium(1)|kidney(2)|large_intestine(5)|lung(19)|ovary(1)|skin(4)|urinary_tract(1) 34 Glycine(DB00145) AAACGTATATCGTATGTTCTC 0.383000 35 21 0 0 0.000375601 0 0 ADAM21P1 145241 broad.mit.edu 37 14 70713730 70713730 + Silent SNP C T T TCGA-EE-A3AC-06A-11D-A196-08 TCGA-EE-A3AC-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 883d623b-c427-4444-9ee3-66d18648130f f8f00311-8db5-4187-bcb8-5054d9fbdac3 g.chr14:70713730C>T uc010ttg.2 - 0 789 c.138G>A c.(136-138)gtG>gtA p.V46V Homo sapiens ADAM metallopeptidase domain 21 pseudogene 1 (ADAM21P1), non-coding RNA. AATCATGGTTCACCACAACAA 0.423000 64 28 0 0 0.00209593 0 0 CSMD3 114788 broad.mit.edu 37 8 113697928 113697928 + Missense_Mutation SNP C T T TCGA-EE-A3AC-06A-11D-A196-08 TCGA-EE-A3AC-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 883d623b-c427-4444-9ee3-66d18648130f f8f00311-8db5-4187-bcb8-5054d9fbdac3 g.chr8:113697928C>T uc003ynu.3 - 14 2348 c.2189G>A c.(2188-2190)gGa>gAa p.G730E CSMD3_uc003yns.3_Missense_Mutation_p.G2E|CSMD3_uc003ynt.3_Missense_Mutation_p.G690E|CSMD3_uc011lhx.2_Missense_Mutation_p.G626E NM_198123 NP_937756 Q7Z407 CSMD3_HUMAN Homo sapiens CUB and Sushi multiple domains 3 (CSMD3), transcript variant a, mRNA. 730 CUB 4. integral to membrane|plasma membrane breast(7)|central_nervous_system(6)|endometrium(44)|haematopoietic_and_lymphoid_tissue(8)|kidney(36)|large_intestine(72)|liver(5)|lung(389)|ovary(24)|prostate(6)|skin(23)|upper_aerodigestive_tract(19)|urinary_tract(7) 646 AAGAACTGTTCCCATTGGTGC 0.358000 HNSCC(6;0.00088)|TCGA Ovarian(7;0.080) 52 24 0 0 0.000878237 0 0 SPATA17 128153 broad.mit.edu 37 1 217915317 217915317 + Splice_Site SNP G A A TCGA-EE-A3AC-06A-11D-A196-08 TCGA-EE-A3AC-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 883d623b-c427-4444-9ee3-66d18648130f f8f00311-8db5-4187-bcb8-5054d9fbdac3 g.chr1:217915317G>A uc001hlh.1 + 6 422 c.396_splice c.e6-1 p.R132_splice SPATA17_uc009xdr.1_Splice_Site NM_138796 NP_620151 Q96L03 SPT17_HUMAN Homo sapiens spermatogenesis associated 17 (SPATA17), mRNA. 132 cytoplasm calmodulin binding endometrium(1)|kidney(1)|large_intestine(9)|lung(6)|pancreas(2)|prostate(1)|urinary_tract(1) 21 OV - Ovarian serous cystadenocarcinoma(81;0.0516)|all cancers(67;0.0891)|GBM - Glioblastoma multiforme(131;0.117) TTTGATGCAGGAAGGCACTGG 0.388000 52 17 0 0 0.000958276 0 0 CRB1 23418 broad.mit.edu 37 1 197404099 197404099 + Missense_Mutation SNP G A A TCGA-EE-A3AC-06A-11D-A196-08 TCGA-EE-A3AC-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 883d623b-c427-4444-9ee3-66d18648130f f8f00311-8db5-4187-bcb8-5054d9fbdac3 g.chr1:197404099G>A uc001gtz.3 + 8 3315 c.3106G>A c.(3106-3108)Gaa>Aaa p.E1036K CRB1_uc010poz.2_Missense_Mutation_p.E1012K|CRB1_uc009wza.3_Missense_Mutation_p.E924K|CRB1_uc010ppa.2_Non-coding_Transcript|CRB1_uc010ppb.2_Intron|CRB1_uc010ppd.2_Missense_Mutation_p.E517K|CRB1_uc001gub.1_Missense_Mutation_p.E685K NM_201253 NP_957705 P82279 CRUM1_HUMAN Homo sapiens crumbs homolog 1 (Drosophila) (CRB1), transcript variant 1, mRNA. 1036 Laminin G-like 3. cell-cell signaling|establishment or maintenance of cell polarity apical plasma membrane|extracellular region|integral to membrane calcium ion binding|protein binding NS(1)|breast(4)|central_nervous_system(2)|cervix(3)|endometrium(13)|kidney(4)|large_intestine(21)|lung(58)|ovary(7)|prostate(3)|skin(10)|upper_aerodigestive_tract(4)|urinary_tract(2) 132 CACATGGCACGAAGTGACCCT 0.453000 53 25 0 0 0.00106085 0 0 KIF1A 547 broad.mit.edu 37 2 241728729 241728729 + Splice_Site SNP G A A TCGA-EE-A3AC-06A-11D-A196-08 TCGA-EE-A3AC-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 883d623b-c427-4444-9ee3-66d18648130f f8f00311-8db5-4187-bcb8-5054d9fbdac3 g.chr2:241728729G>A uc010fzk.3 - 3 354 c.107_splice c.e3-1 p.T36_splice KIF1A_uc002vzy.3_Splice_Site_p.T36_splice|KIF1A_uc002vzz.2_Splice_Site_p.T36_splice NM_001244008 NP_001230937 Q12756 KIF1A_HUMAN Homo sapiens kinesin family member 1A (KIF1A), transcript variant 1, mRNA. 36 Kinesin-motor. anterograde axon cargo transport cytoplasm|microtubule|nucleus ATP binding|microtubule motor activity NS(1)|central_nervous_system(2)|endometrium(14)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(8)|lung(25)|ovary(1)|prostate(5)|skin(2)|urinary_tract(1) 66 all_epithelial(40;1.35e-15)|Breast(86;2.14e-05)|Renal(207;0.00183)|Ovarian(221;0.0228)|all_lung(227;0.0295)|all_neural(83;0.0459)|Lung NSC(271;0.0942)|all_hematologic(139;0.158)|Melanoma(123;0.16)|Hepatocellular(293;0.244) Epithelial(32;6.12e-30)|all cancers(36;3.46e-27)|OV - Ovarian serous cystadenocarcinoma(60;1.38e-14)|Kidney(56;5e-09)|KIRC - Kidney renal clear cell carcinoma(57;5e-08)|BRCA - Breast invasive adenocarcinoma(100;5.87e-06)|Lung(119;0.00209)|LUSC - Lung squamous cell carcinoma(224;0.00902)|Colorectal(34;0.0282)|COAD - Colon adenocarcinoma(134;0.176) GTTAACAATGGCTGTGGGAGG 0.597000 16 19 0 0 0.000958276 0 0 SLC25A14 9016 broad.mit.edu 37 X 129506907 129506907 + Nonsense_Mutation SNP A T T TCGA-EE-A3AC-06A-11D-A196-08 TCGA-EE-A3AC-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 883d623b-c427-4444-9ee3-66d18648130f f8f00311-8db5-4187-bcb8-5054d9fbdac3 g.chrX:129506907A>T uc004evr.1 + 10 1217 c.1045A>T c.(1045-1047)Aag>Tag p.K349* SLC25A14_uc004evp.1_Nonsense_Mutation_p.K321*|SLC25A14_uc004evq.1_Nonsense_Mutation_p.K318* NM_022810 NP_073721 O95258 UCP5_HUMAN Homo sapiens solute carrier family 25 (mitochondrial carrier, brain), member 14 (SLC25A14), nuclear gene encoding mitochondrial protein, transcript variant short, mRNA. 321 aerobic respiration|mitochondrial transport integral to plasma membrane|mitochondrial inner membrane binding endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|lung(7)|ovary(1) 22 CGAGCAGCTAAAGAGGCTTCA 0.403000 36 114 0 0 0.000781405 0 0 SYT15 83849 broad.mit.edu 37 10 46968620 46968620 + Missense_Mutation SNP C T T TCGA-EE-A3AC-06A-11D-A196-08 TCGA-EE-A3AC-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 883d623b-c427-4444-9ee3-66d18648130f f8f00311-8db5-4187-bcb8-5054d9fbdac3 g.chr10:46968620C>T uc001jea.3 - 2 469 c.316G>A c.(316-318)Gca>Aca p.A106T SYT15_uc001jdz.2_Missense_Mutation_p.A106T|SYT15_uc001jeb.3_5'UTR|SYT15_uc010qfp.1_5'Flank NM_031912 NP_114118 Q9BQS2 SYT15_HUMAN Homo sapiens synaptotagmin XV (SYT15), transcript variant a, mRNA. 106 integral to membrane|plasma membrane cervix(1)|endometrium(5)|kidney(2)|lung(5) 13 AGCTCTGATGCCGGGCAGGGG 0.667000 20 6 0 0 0.00116845 0 0 CDH13 1012 broad.mit.edu 37 16 83711825 83711825 + Missense_Mutation SNP G A A TCGA-EE-A3AC-06A-11D-A196-08 TCGA-EE-A3AC-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 883d623b-c427-4444-9ee3-66d18648130f f8f00311-8db5-4187-bcb8-5054d9fbdac3 g.chr16:83711825G>A uc010vns.2 + 10 1702 c.1438G>A c.(1438-1440)Gaa>Aaa p.E480K CDH13_uc002fgx.3_Missense_Mutation_p.E433K|CDH13_uc010vnt.2_Missense_Mutation_p.E179K|CDH13_uc010vnu.2_Missense_Mutation_p.E394K NM_001220488 NP_001207417 P55290 CAD13_HUMAN Homo sapiens cadherin 13, H-cadherin (heart) (CDH13), transcript variant 2, mRNA. 433 Cadherin 4. Rac protein signal transduction|Rho protein signal transduction|adherens junction organization|calcium-dependent cell-cell adhesion|cell junction assembly|endothelial cell migration|homophilic cell adhesion|keratinocyte proliferation|lamellipodium assembly|localization within membrane|low-density lipoprotein particle mediated signaling|negative regulation of cell adhesion|negative regulation of cell proliferation|positive regulation of calcium-mediated signaling|positive regulation of cell migration|positive regulation of cell-matrix adhesion|positive regulation of endothelial cell proliferation|positive regulation of positive chemotaxis|positive regulation of smooth muscle cell proliferation|positive regulation of survival gene product expression|regulation of endocytosis|regulation of epidermal growth factor receptor signaling pathway|sprouting angiogenesis anchored to membrane|caveola|extracellular space|integral to membrane|neuron projection adiponectin binding|cadherin binding|calcium ion binding|low-density lipoprotein particle binding large_intestine(1) 1 all_cancers(2;1.34e-11)|all_epithelial(2;4.3e-09) COAD - Colon adenocarcinoma(5;0.0268) ATTGGACTATGAAATTTCTGC 0.527000 23 20 0 0 0.00047179 0 0 ADAM2 2515 broad.mit.edu 37 8 39644506 39644506 + Missense_Mutation SNP C T T TCGA-EE-A3AC-06A-11D-A196-08 TCGA-EE-A3AC-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 883d623b-c427-4444-9ee3-66d18648130f f8f00311-8db5-4187-bcb8-5054d9fbdac3 g.chr8:39644506C>T uc003xnj.3 - 9 953 c.878G>A c.(877-879)gGa>gAa p.G293E ADAM2_uc003xnk.3_Missense_Mutation_p.G274E|ADAM2_uc011lck.2_Missense_Mutation_p.G293E|ADAM2_uc003xnl.3_Intron NM_001464 NP_001455 Q99965 ADAM2_HUMAN Homo sapiens ADAM metallopeptidase domain 2 (ADAM2), mRNA. 293 Peptidase M12B. cell adhesion|fusion of sperm to egg plasma membrane|proteolysis integral to plasma membrane integrin binding|metalloendopeptidase activity|zinc ion binding haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(11)|lung(29)|ovary(3)|prostate(1)|skin(5)|urinary_tract(1) 53 all_cancers(7;2.38e-28)|all_epithelial(6;8.85e-21)|all_lung(54;1.24e-07)|Lung NSC(58;1.94e-07)|Hepatocellular(245;0.00745)|Breast(189;0.00908)|Renal(179;0.0183)|Colorectal(162;0.246) LUSC - Lung squamous cell carcinoma(45;0.000149) READ - Rectum adenocarcinoma(644;0.0689)|Kidney(114;0.162) AACAACACCTCCTGCATAGTT 0.294000 25 14 0 0 0.000422831 0 0 ICK 22858 broad.mit.edu 37 6 52897349 52897349 + Missense_Mutation SNP T C C TCGA-EE-A3AC-06A-11D-A196-08 TCGA-EE-A3AC-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 883d623b-c427-4444-9ee3-66d18648130f f8f00311-8db5-4187-bcb8-5054d9fbdac3 g.chr6:52897349T>C uc003pbh.2 - 4 750 c.260A>G c.(259-261)tAc>tGc p.Y87C ICK_uc003pbi.2_Missense_Mutation_p.Y87C|ICK_uc003pbj.3_Missense_Mutation_p.Y87C NM_016513 NP_057597 Q9UPZ9 ICK_HUMAN Homo sapiens intestinal cell (MAK-like) kinase (ICK), transcript variant 2, mRNA. 87 Protein kinase. intracellular protein kinase cascade|multicellular organismal development cytosol|nucleus ATP binding|cyclin-dependent protein kinase activity|magnesium ion binding breast(1)|central_nervous_system(2)|endometrium(4)|kidney(2)|large_intestine(6)|lung(10)|ovary(1)|prostate(1)|skin(3)|stomach(1) 31 Lung NSC(77;0.103) AATGAGCTGGTAAAGATTTTC 0.308000 33 30 0 0 0.000692331 0 0 TTN 7273 broad.mit.edu 37 2 179495544 179495544 + Missense_Mutation SNP A T T TCGA-EE-A3AC-06A-11D-A196-08 TCGA-EE-A3AC-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 883d623b-c427-4444-9ee3-66d18648130f f8f00311-8db5-4187-bcb8-5054d9fbdac3 g.chr2:179495544A>T uc021vsy.1 - 186 36662 c.36437T>A c.(36436-36438)cTa>cAa p.L12146Q MIR548N_uc021vsx.1_Intron|TTN_uc021vsz.1_Missense_Mutation_p.L5841Q|TTN_uc021vta.1_Missense_Mutation_p.L5774Q|TTN_uc021vtb.1_Missense_Mutation_p.L5649Q NM_133378 NP_596869 Q8WZ42 TITIN_HUMAN Homo sapiens titin (TTN), transcript variant N2-A, mRNA. 13073 Ig-like 81. ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26) 1448 OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134) TGTTTGGAGTAGGGCCTCTCC 0.468000 19 14 0 0 0.000422831 0 0 DNMBP 23268 broad.mit.edu 37 10 101643875 101643875 + Missense_Mutation SNP T C C rs116046885 by1000genomes TCGA-EE-A3AC-06A-11D-A196-08 TCGA-EE-A3AC-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 883d623b-c427-4444-9ee3-66d18648130f f8f00311-8db5-4187-bcb8-5054d9fbdac3 g.chr10:101643875T>C uc001kqj.2 - 14 3982 c.3890A>G c.(3889-3891)aAt>aGt p.N1297S DNMBP_uc010qpl.1_Missense_Mutation_p.N233S|DNMBP_uc001kqg.2_Missense_Mutation_p.N585S|DNMBP_uc001kqh.2_Missense_Mutation_p.N929S NM_015221 NP_056036 Q6XZF7 DNMBP_HUMAN Homo sapiens dynamin binding protein (DNMBP), mRNA. 1297 SH3 5. intracellular signal transduction|regulation of Rho protein signal transduction Golgi stack|cell junction|cytoskeleton|synapse Rho guanyl-nucleotide exchange factor activity|protein binding central_nervous_system(1)|cervix(4)|endometrium(9)|large_intestine(14)|lung(19)|ovary(5)|prostate(1)|skin(6)|stomach(1)|upper_aerodigestive_tract(1) 61 Colorectal(252;0.234) Epithelial(162;2.94e-10)|all cancers(201;3.15e-08) TTGAGCAGCATTGAAGTTCCG 0.517000 44 40 0 0 0.00148497 0 0 CHL1 10752 broad.mit.edu 37 3 425548 425548 + Silent SNP G A A TCGA-EE-A3AC-06A-11D-A196-08 TCGA-EE-A3AC-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 883d623b-c427-4444-9ee3-66d18648130f f8f00311-8db5-4187-bcb8-5054d9fbdac3 g.chr3:425548G>A uc003bot.3 + 18 2868 c.2226G>A c.(2224-2226)aaG>aaA p.K742K CHL1_uc003bou.3_Silent_p.K726K|CHL1_uc003bow.2_Silent_p.K726K|CHL1_uc011asi.2_Silent_p.K742K|BC065754_uc003box.1_Intron NM_006614 NP_006605 O00533 CHL1_HUMAN Homo sapiens cell adhesion molecule with homology to L1CAM (close homolog of L1) (CHL1), transcript variant 1, mRNA. 726 Fibronectin type-III 2. 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) CTCAACCCAAGGAAATGATTA 0.343000 40 35 0 0 0.00148497 0 0 PLXNA4 91584 broad.mit.edu 37 7 131883357 131883357 + Silent SNP C T T TCGA-EE-A3AC-06A-11D-A196-08 TCGA-EE-A3AC-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 883d623b-c427-4444-9ee3-66d18648130f f8f00311-8db5-4187-bcb8-5054d9fbdac3 g.chr7:131883357C>T uc003vra.4 - 12 2854 c.2625G>A c.(2623-2625)aaG>aaA p.K875K NM_020911 NP_065962 Q9HCM2 PLXA4_HUMAN Homo sapiens plexin A4 (PLXNA4), transcript variant 1, mRNA. 875 IPT/TIG 1. integral to membrane|intracellular|plasma membrane NS(1)|breast(1)|endometrium(3)|kidney(4)|large_intestine(14)|lung(17)|ovary(1)|prostate(2)|skin(1)|stomach(1) 45 GGATAGTGACCTTGGTGCCCC 0.547000 28 24 0 0 0.00178596 0 0 MAGEA10 4109 broad.mit.edu 37 X 151303172 151303172 + Silent SNP C T T TCGA-EE-A3AC-06A-11D-A196-08 TCGA-EE-A3AC-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 883d623b-c427-4444-9ee3-66d18648130f f8f00311-8db5-4187-bcb8-5054d9fbdac3 g.chrX:151303172C>T uc022cgz.1 - 0 921 c.921G>A c.(919-921)agG>agA p.R307R MAGEA5_uc022cgy.1_Intron|MAGEA10_uc004ffk.3_Silent_p.R307R|MAGEA10_uc004ffm.2_Silent_p.R307R|MAGEA10_uc004ffl.3_Silent_p.R307R NM_021048 NP_066386 P43363 MAGAA_HUMAN Homo sapiens melanoma antigen family A, 10 (MAGEA10), transcript variant 2, mRNA. 307 MAGE. endometrium(2)|kidney(2)|large_intestine(4)|lung(11)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 23 Acute lymphoblastic leukemia(192;6.56e-05) GACTCATCTTCCTAATTTCAG 0.498000 8 57 0 0 0.000781405 0 0 DNAH5 1767 broad.mit.edu 37 5 13830179 13830179 + Missense_Mutation SNP C T T TCGA-EE-A3AC-06A-11D-A196-08 TCGA-EE-A3AC-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 883d623b-c427-4444-9ee3-66d18648130f f8f00311-8db5-4187-bcb8-5054d9fbdac3 g.chr5:13830179C>T uc003jfd.2 - 36 6247 c.6205G>A c.(6205-6207)Gat>Aat p.D2069N NM_001369 NP_001360 Q8TE73 DYH5_HUMAN Homo sapiens dynein, axonemal, heavy chain 5 (DNAH5), mRNA. 2069 AAA 1 (By similarity). microtubule-based movement cilium axoneme|cytoplasm|microtubule ATP binding|ATPase activity|microtubule motor activity NS(6)|breast(14)|central_nervous_system(4)|cervix(2)|endometrium(23)|haematopoietic_and_lymphoid_tissue(8)|kidney(11)|large_intestine(85)|liver(1)|lung(129)|ovary(16)|pancreas(2)|prostate(5)|skin(48)|stomach(5)|upper_aerodigestive_tract(11)|urinary_tract(8) 378 Lung NSC(4;0.00476) GTCACATTATCTCCATCAGTA 0.383000 Kartagener syndrome 33 21 0 0 0.00047179 0 0 ZNF627 199692 broad.mit.edu 37 19 11728022 11728022 + Missense_Mutation SNP C T T TCGA-EE-A3AC-06A-11D-A196-08 TCGA-EE-A3AC-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 883d623b-c427-4444-9ee3-66d18648130f f8f00311-8db5-4187-bcb8-5054d9fbdac3 g.chr19:11728022C>T uc002msk.2 + 3 912 c.704C>T c.(703-705)tCc>tTc p.S235F NM_145295 NP_660338 Q7L945 ZN627_HUMAN Homo sapiens zinc finger protein 627 (ZNF627), mRNA. 235 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(6)|prostate(1)|skin(2)|upper_aerodigestive_tract(1) 14 TTCAGTTGTTCCAGTTACATT 0.393000 16 8 0 0 0.000157383 0 0 PPAP2C 8612 broad.mit.edu 37 19 287697 287697 + Missense_Mutation SNP C T T TCGA-EE-A3AC-06A-11D-A196-08 TCGA-EE-A3AC-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 883d623b-c427-4444-9ee3-66d18648130f f8f00311-8db5-4187-bcb8-5054d9fbdac3 g.chr19:287697C>T uc002loh.3 - 2 425 c.322G>A c.(322-324)Gac>Aac p.D108N PPAP2C_uc002loi.3_Missense_Mutation_p.D87N|PPAP2C_uc002loj.3_Missense_Mutation_p.D31N NM_177543 NP_803545 O43688 LPP2_HUMAN Homo sapiens phosphatidic acid phosphatase type 2C (PPAP2C), transcript variant 3, mRNA. 87 sphingolipid metabolic process integral to membrane|plasma membrane phosphatidate phosphatase activity|phosphoprotein phosphatase activity|sphingosine-1-phosphate phosphatase activity breast(1)|central_nervous_system(1)|endometrium(1)|lung(1)|skin(1) 5 all_cancers(10;1.13e-36)|all_epithelial(18;1.46e-23)|Acute lymphoblastic leukemia(61;2.53e-14)|all_hematologic(61;8.18e-10)|Lung NSC(49;1.1e-06)|all_lung(49;1.55e-06)|Breast(49;4.08e-05)|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) TTGTTGAAGTCCGAGCGAGAA 0.602000 140 68 0 0 0.000781405 0 0 CACNA1A 773 broad.mit.edu 37 19 13445274 13445274 + Silent SNP G A A TCGA-EE-A3AC-06A-11D-A196-08 TCGA-EE-A3AC-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 883d623b-c427-4444-9ee3-66d18648130f f8f00311-8db5-4187-bcb8-5054d9fbdac3 g.chr19:13445274G>A uc002mwy.3 - 7 1352 c.1116C>T c.(1114-1116)aaC>aaT p.N372N CACNA1A_uc010xnd.2_Silent_p.N372N|CACNA1A_uc021ups.1_Silent_p.N372N|CACNA1A_uc010xne.2_Silent_p.N372N|CACNA1A_uc010dze.2_Silent_p.N372N|CACNA1A_uc021upt.1_Silent_p.N372N NM_001127222 NP_001120694 O00555 CAC1A_HUMAN Homo sapiens calcium channel, voltage-dependent, P/Q type, alpha 1A subunit (CACNA1A), transcript variant 4, mRNA. 372 cell death|elevation of cytosolic calcium ion concentration|energy reserve metabolic process|membrane depolarization|regulation of insulin secretion cytoplasm|nucleus syntaxin binding breast(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(25)|prostate(2)|urinary_tract(1) 42 OV - Ovarian serous cystadenocarcinoma(19;5.07e-21) Bepridil(DB01244)|Cinnarizine(DB00568)|Loperamide(DB00836)|Nisoldipine(DB00401)|Pregabalin(DB00230) AAGCCCGCCGGTTCTCCACCC 0.488000 42 22 0 0 0.00127121 0 0 DSCAM 1826 broad.mit.edu 37 21 42080528 42080528 + Silent SNP C T T TCGA-EE-A3AC-06A-11D-A196-08 TCGA-EE-A3AC-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 883d623b-c427-4444-9ee3-66d18648130f f8f00311-8db5-4187-bcb8-5054d9fbdac3 g.chr21:42080528C>T uc002yyq.1 - 1 665 c.213G>A c.(211-213)ggG>ggA p.G71G DSCAM_uc002yyr.1_Non-coding_Transcript NM_001389 NP_001380 O60469 DSCAM_HUMAN Homo sapiens Down syndrome cell adhesion molecule (DSCAM), transcript variant 1, mRNA. 71 Ig-like C2-type 1. 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 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) CGTGGCGGATCCCGGGGACAT 0.567000 31 21 0 0 0.000375601 0 0 MAPK3 5595 broad.mit.edu 37 16 30133240 30133240 + Silent SNP G A A TCGA-EE-A3AC-06A-11D-A196-08 TCGA-EE-A3AC-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 883d623b-c427-4444-9ee3-66d18648130f f8f00311-8db5-4187-bcb8-5054d9fbdac3 g.chr16:30133240G>A uc002dws.3 - 1 358 c.258C>T c.(256-258)ctC>ctT p.L86L BOLA2_uc010bzb.1_Intron|MAPK3_uc002dwr.3_5'UTR|MAPK3_uc002dwv.4_Silent_p.L86L|MAPK3_uc002dwt.3_Silent_p.L86L NM_002746 NP_002737 P27361 MK03_HUMAN Homo sapiens mitogen-activated protein kinase 3 (MAPK3), transcript variant 1, mRNA. 86 Protein kinase. MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|Ras protein signal transduction|Toll signaling pathway|activation of MAPK activity|activation of MAPKK activity|axon guidance|cell cycle|cellular response to mechanical stimulus|epidermal growth factor receptor signaling pathway|innate immune response|insulin receptor signaling pathway|interleukin-1-mediated signaling pathway|interspecies interaction between organisms|nerve growth factor receptor signaling pathway|platelet activation|positive regulation of histone acetylation|positive regulation of histone phosphorylation|positive regulation of transcription from RNA polymerase II promoter|regulation of sequence-specific DNA binding transcription factor activity|stress-activated MAPK cascade|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway|transcription initiation from RNA polymerase I promoter cytosol|nucleoplasm ATP binding|MAP kinase activity|phosphatase binding Arsenic trioxide(DB01169)|Isoproterenol(DB01064)|Simvastatin(DB00641)|Sulindac(DB00605) GGATCTCCCGGAGCGTGCGCT 0.602000 21 11 0 0 0.000978159 0 0 MCTP1 79772 broad.mit.edu 37 5 94259726 94259726 + Splice_Site SNP C T T TCGA-EE-A3AC-06A-11D-A196-08 TCGA-EE-A3AC-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 883d623b-c427-4444-9ee3-66d18648130f f8f00311-8db5-4187-bcb8-5054d9fbdac3 g.chr5:94259726C>T uc003kkx.2 - 7 1213 c.1213_splice c.e7-1 p.E405_splice MCTP1_uc003kkv.2_Splice_Site_p.E184_splice|MCTP1_uc003kkw.2_Intron|MCTP1_uc003kkz.2_Splice_Site_p.E66_splice|MCTP1_uc003kku.2_Intron NM_024717 NP_078993 Q6DN14 MCTP1_HUMAN Homo sapiens multiple C2 domains, transmembrane 1 (MCTP1), transcript variant L, mRNA. 405 calcium-mediated signaling integral to membrane|membrane fraction calcium ion binding breast(1)|endometrium(3)|large_intestine(13)|liver(2)|lung(13)|ovary(2)|skin(4)|stomach(2)|urinary_tract(1) 41 all_cancers(142;1.68e-05)|all_epithelial(76;1.51e-07)|all_lung(232;0.0167)|Lung NSC(167;0.0207)|Ovarian(225;0.0218)|Colorectal(57;0.207) all cancers(79;9.1e-17) TCTGAAAGTTCCTAGAAACAA 0.264000 33 23 0 0 0.00047179 0 0 UBE2Q2 92912 broad.mit.edu 37 15 76175716 76175716 + Missense_Mutation SNP C T T TCGA-EE-A3AC-06A-11D-A196-08 TCGA-EE-A3AC-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 883d623b-c427-4444-9ee3-66d18648130f f8f00311-8db5-4187-bcb8-5054d9fbdac3 g.chr15:76175716C>T uc002bbg.2 + 8 1221 c.835C>T c.(835-837)Cca>Tca p.P279S UBE2Q2_uc002bbh.2_Missense_Mutation_p.P244S|UBE2Q2_uc010umn.1_Missense_Mutation_p.P263S|UBE2Q2_uc002bbi.2_Missense_Mutation_p.P160S NM_173469 NP_775740 Q8WVN8 UB2Q2_HUMAN Homo sapiens ubiquitin-conjugating enzyme E2Q family member 2 (UBE2Q2), transcript variant 1, mRNA. 279 protein K48-linked ubiquitination cytoplasm ATP binding|ubiquitin-protein ligase activity endometrium(2)|kidney(1)|large_intestine(2)|lung(5)|ovary(2) 12 GGATAACTTTCCATTTGATCC 0.269000 67 42 0 0 0.000680045 0 0 VAV1 7409 broad.mit.edu 37 19 6821869 6821869 + Splice_Site SNP G A A TCGA-EE-A3AC-06A-11D-A196-08 TCGA-EE-A3AC-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 883d623b-c427-4444-9ee3-66d18648130f f8f00311-8db5-4187-bcb8-5054d9fbdac3 g.chr19:6821869G>A uc002mfu.1 + 4 546 c.449_splice c.e4+1 p.D150_splice VAV1_uc010xjh.1_Splice_Site_p.D150_splice|VAV1_uc010dva.1_Splice_Site_p.D150_splice|VAV1_uc002mfv.1_Splice_Site_p.D95_splice NM_005428 NP_005419 P15498 VAV_HUMAN Homo sapiens vav 1 guanine nucleotide exchange factor (VAV1), mRNA. 150 T cell costimulation|apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|platelet activation|regulation of Rho protein signal transduction|small GTPase mediated signal transduction cytosol|plasma membrane metal ion binding|protein binding|sequence-specific DNA binding transcription factor activity biliary_tract(1)|breast(3)|central_nervous_system(2)|endometrium(3)|kidney(5)|large_intestine(16)|lung(18)|ovary(5)|prostate(2)|skin(5)|upper_aerodigestive_tract(2) 62 CGACCAGATCGAGTGAGTGCT 0.642000 46 28 0 0 0.00058488 0 0 SRCAP 10847 broad.mit.edu 37 16 30748595 30748596 + Missense_Mutation DNP AC TT TT TCGA-EE-A3AC-06A-11D-A196-08 TCGA-EE-A3AC-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 883d623b-c427-4444-9ee3-66d18648130f f8f00311-8db5-4187-bcb8-5054d9fbdac3 g.chr16:30748595_30748596AC>TT uc002dze.1 + 33 7619_7620 c.7234_7235AC>TT c.(7234-7236)act>TTt p.T2412F SRCAP_uc002dzf.3_Non-coding_Transcript|SRCAP_uc002dzg.1_Missense_Mutation_p.T2207F NM_006662 NP_006653 Q6ZRS2 SRCAP_HUMAN Homo sapiens Snf2-related CREBBP activator protein (SRCAP), mRNA. 2412 interspecies interaction between organisms|regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent Golgi apparatus|nucleus|protein complex ATP binding|DNA binding|helicase activity|histone acetyltransferase activity|transcription coactivator activity NS(1)|breast(3)|cervix(3)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(22)|liver(3)|lung(62)|ovary(6)|pancreas(1)|prostate(4)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(5) 136 Colorectal(24;0.198) GGCAAACCACACTCCTGTCATA 0.644000 19 8 0 0 6.4e-05 0 0 DLG5 9231 broad.mit.edu 37 10 79581859 79581859 + Splice_Site SNP C T T TCGA-EE-A3AC-06A-11D-A196-08 TCGA-EE-A3AC-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 883d623b-c427-4444-9ee3-66d18648130f f8f00311-8db5-4187-bcb8-5054d9fbdac3 g.chr10:79581859C>T uc001jzk.3 - 15 2453 c.2383_splice c.e15-1 p.V795_splice DLG5_uc001jzi.3_5'Flank|DLG5_uc001jzj.3_Intron|DLG5_uc009xru.1_Splice_Site|DLG5_uc001jzl.4_Splice_Site_p.V399_splice NM_004747 NP_004738 Q8TDM6 DLG5_HUMAN Homo sapiens discs, large homolog 5 (Drosophila) (DLG5), mRNA. 795 PDZ 2. cell-cell adhesion|intracellular signal transduction|negative regulation of cell proliferation|regulation of apoptosis cell junction|cytoplasm beta-catenin binding|cytoskeletal protein binding|receptor signaling complex scaffold activity breast(9)|central_nervous_system(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(8)|lung(17)|ovary(5)|prostate(1)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(2) 60 all_cancers(46;0.0316)|all_epithelial(25;0.00147)|Breast(12;0.0015)|Prostate(51;0.0146) Epithelial(14;0.00105)|OV - Ovarian serous cystadenocarcinoma(4;0.00151)|all cancers(16;0.00446) TGAGGGAATACCTAGGCAGGG 0.507000 40 25 0 0 0.000586117 0 0 BSDC1 55108 broad.mit.edu 37 1 32842272 32842272 + Silent SNP G A A TCGA-EE-A3AC-06A-11D-A196-08 TCGA-EE-A3AC-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 883d623b-c427-4444-9ee3-66d18648130f f8f00311-8db5-4187-bcb8-5054d9fbdac3 g.chr1:32842272G>A uc001bvi.3 - 8 845 c.798C>T c.(796-798)ttC>ttT p.F266F BSDC1_uc001bvh.4_Silent_p.F249F|BSDC1_uc010ohg.2_Silent_p.F266F|BSDC1_uc010ohh.2_Silent_p.F193F|BSDC1_uc010ohi.2_Silent_p.F154F|BSDC1_uc001bvg.4_Non-coding_Transcript|BSDC1_uc001bvj.3_Silent_p.F145F Q9NW68 BSDC1_HUMAN Homo sapiens BSD domain containing 1 (BSDC1), transcript variant 1, mRNA. 249 protein binding breast(1)|central_nervous_system(2)|kidney(1)|lung(6)|ovary(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(1) 17 Myeloproliferative disorder(586;0.0393)|all_neural(195;0.186) CTCCTTCAGGGAATGTAGAAA 0.532000 40 33 0 0 0.00058488 0 0 CRYL1 51084 broad.mit.edu 37 13 21013861 21013861 + Silent SNP C T T TCGA-EE-A3AC-06A-11D-A196-08 TCGA-EE-A3AC-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 883d623b-c427-4444-9ee3-66d18648130f f8f00311-8db5-4187-bcb8-5054d9fbdac3 g.chr13:21013861C>T uc001une.3 - 3 388 c.309G>A c.(307-309)aaG>aaA p.K103K CRYL1_uc001unf.3_Silent_p.K81K|CRYL1_uc001ung.3_Silent_p.K81K|CRYL1_uc010tcp.1_5'UTR NM_015974 NP_057058 Q9Y2S2 CRYL1_HUMAN Homo sapiens crystallin, lambda 1 (CRYL1), mRNA. 103 fatty acid metabolic process cytosol 3-hydroxyacyl-CoA dehydrogenase activity|L-gulonate 3-dehydrogenase activity|NAD+ binding|protein homodimerization activity NS(1)|kidney(1)|large_intestine(5)|lung(5)|prostate(1)|upper_aerodigestive_tract(1) 14 all_cancers(29;2.27e-23)|all_epithelial(30;1.69e-19)|all_lung(29;8.29e-18)|Lung SC(185;0.0262)|Ovarian(182;0.0827)|Hepatocellular(188;0.244) all cancers(112;6.6e-05)|Epithelial(112;0.00178)|OV - Ovarian serous cystadenocarcinoma(117;0.0169)|Lung(94;0.0215)|GBM - Glioblastoma multiforme(144;0.0402)|LUSC - Lung squamous cell carcinoma(192;0.061) CAAAAATCTTCTTCTTCAGTT 0.423000 39 27 0 0 0.00127121 0 0 PHF19 26147 broad.mit.edu 37 9 123624282 123624282 + Splice_Site SNP A C C TCGA-EE-A3AC-06A-11D-A196-08 TCGA-EE-A3AC-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 883d623b-c427-4444-9ee3-66d18648130f f8f00311-8db5-4187-bcb8-5054d9fbdac3 g.chr9:123624282A>C uc004bks.1 - 12 1384 c.1131_splice c.e12-1 p.G377_splice PHF19_uc011lyf.1_Splice_Site_p.G168_splice|PHF19_uc004bkr.2_Intron NM_015651 NP_056466 Q5T6S3 PHF19_HUMAN Homo sapiens PHD finger protein 19 (PHF19), transcript variant 1, mRNA. 377 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus nucleic acid binding|zinc ion binding NS(2)|breast(1)|endometrium(3)|large_intestine(1)|lung(8)|ovary(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 19 TGAGGCAACAAACTGTGGAGA 0.542000 40 29 0 0 0.00178596 0 0 C1QTNF1 114897 broad.mit.edu 37 17 77043939 77043939 + Silent SNP G A A TCGA-EE-A3AC-06A-11D-A196-08 TCGA-EE-A3AC-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 883d623b-c427-4444-9ee3-66d18648130f f8f00311-8db5-4187-bcb8-5054d9fbdac3 g.chr17:77043939G>A uc002jwt.3 + 2 991 c.909G>A c.(907-909)aaG>aaA p.K303K C1QTNF1_uc002jwp.3_Silent_p.K205K|C1QTNF1_uc002jwq.3_Silent_p.K123K|C1QTNF1_uc002jwr.4_Silent_p.K215K|C1QTNF1_uc002jws.3_Silent_p.K205K NM_198594 NP_940996 Q9BXJ1 C1QT1_HUMAN Homo sapiens C1q and tumor necrosis factor related protein 1 (C1QTNF1), mRNA. 205 collagen breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(5)|ovary(2) 14 BRCA - Breast invasive adenocarcinoma(99;0.0294)|OV - Ovarian serous cystadenocarcinoma(97;0.201) GGAACCAGAAGGAGACCTACC 0.557000 49 89 0 0 0.000781405 0 0 CCKBR 887 broad.mit.edu 37 11 6292321 6292321 + Missense_Mutation SNP C T T TCGA-EE-A3AC-06A-11D-A196-08 TCGA-EE-A3AC-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 883d623b-c427-4444-9ee3-66d18648130f f8f00311-8db5-4187-bcb8-5054d9fbdac3 g.chr11:6292321C>T uc001mcp.3 + 4 1147 c.892C>T c.(892-894)Cca>Tca p.P298S CCKBR_uc001mcq.3_Missense_Mutation_p.P226S|CCKBR_uc001mcr.3_Missense_Mutation_p.P298S|CCKBR_uc001mcs.3_Missense_Mutation_p.P367S|CCKBR_uc001mct.1_Non-coding_Transcript NM_176875 NP_795344 P32239 GASR_HUMAN Homo sapiens cholecystokinin B receptor (CCKBR), mRNA. 298 activation of phospholipase C activity by G-protein coupled receptor protein signaling pathway coupled to IP3 second messenger|cell proliferation|digestion|elevation of cytosolic calcium ion concentration|feeding behavior|positive regulation of cell proliferation|sensory perception 1-phosphatidylinositol-3-kinase regulator activity|gastrin receptor activity|phosphatidylinositol phospholipase C activity|type B gastrin/cholecystokinin receptor binding NS(2)|breast(2)|endometrium(4)|kidney(13)|large_intestine(10)|lung(22)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1) 61 Medulloblastoma(188;0.00263)|all_neural(188;0.026)|Breast(177;0.029) Epithelial(150;2.62e-08)|BRCA - Breast invasive adenocarcinoma(625;0.139) Pentagastrin(DB00183) CGTGCAACTTCCACGTTCCCG 0.687000 61 31 0 0 0.000491102 0 0 SLC22A7 10864 broad.mit.edu 37 6 43269945 43269945 + Missense_Mutation SNP G A A TCGA-EE-A3AC-06A-11D-A196-08 TCGA-EE-A3AC-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 883d623b-c427-4444-9ee3-66d18648130f f8f00311-8db5-4187-bcb8-5054d9fbdac3 g.chr6:43269945G>A uc021yzt.1 + 7 1168 c.1069G>A c.(1069-1071)Gtg>Atg p.V357M SLC22A7_uc010jyl.1_Missense_Mutation_p.V358M|SLC22A7_uc003ous.3_Missense_Mutation_p.V355M|SLC22A7_uc003out.3_Missense_Mutation_p.V355M NM_153320 NP_696961 Q9Y694 S22A7_HUMAN Homo sapiens solute carrier family 22 (organic anion transporter), member 7 (SLC22A7), transcript variant 2, mRNA. 357 basolateral plasma membrane|integral to plasma membrane|membrane fraction anion:anion antiporter activity|sodium-independent organic anion transmembrane transporter activity NS(2)|endometrium(1)|kidney(1)|large_intestine(8)|lung(10)|prostate(1)|skin(3) 26 Colorectal(64;0.00245)|COAD - Colon adenocarcinoma(64;0.00536)|all cancers(41;0.00998)|OV - Ovarian serous cystadenocarcinoma(102;0.0305) CAGGTTCGGAGTGAACTTCTC 0.552000 36 29 0 0 0.000953801 0 0 DLG2 1740 broad.mit.edu 37 11 83243803 83243803 + Missense_Mutation SNP C T T TCGA-EE-A3AC-06A-11D-A196-08 TCGA-EE-A3AC-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 883d623b-c427-4444-9ee3-66d18648130f f8f00311-8db5-4187-bcb8-5054d9fbdac3 g.chr11:83243803C>T uc001paj.2 - 15 2129 c.1826G>A c.(1825-1827)cGa>cAa p.R609Q DLG2_uc001pai.2_Missense_Mutation_p.R506Q|DLG2_uc010rsy.1_Missense_Mutation_p.R576Q|DLG2_uc021qof.1_Missense_Mutation_p.R648Q|DLG2_uc010rsz.1_Missense_Mutation_p.R609Q|DLG2_uc010rta.1_Missense_Mutation_p.R609Q|DLG2_uc001pak.2_Missense_Mutation_p.R714Q|DLG2_uc010rtb.1_Missense_Mutation_p.R576Q|DLG2_uc010rsx.1_Missense_Mutation_p.R90Q|DLG2_uc010rsw.1_Missense_Mutation_p.R91Q NM_001364 NP_001355 Q15700 DLG2_HUMAN Homo sapiens discs, large homolog 2 (Drosophila) (DLG2), transcript variant 2, mRNA. 609 cell junction|postsynaptic density|postsynaptic membrane guanylate kinase activity|protein binding breast(1)|central_nervous_system(1)|endometrium(8)|kidney(3)|large_intestine(11)|lung(35)|ovary(3)|pancreas(2)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(1) 71 all_cancers(6;0.00791)|Acute lymphoblastic leukemia(157;4.44e-05)|all_hematologic(158;0.0036) TGTCTTCAATCGGGCACGTTC 0.398000 29 17 0 0 0.00121646 0 0 ATP2B2 491 broad.mit.edu 37 3 10370590 10370590 + Missense_Mutation SNP C T T TCGA-EE-A3AC-06A-11D-A196-08 TCGA-EE-A3AC-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 883d623b-c427-4444-9ee3-66d18648130f f8f00311-8db5-4187-bcb8-5054d9fbdac3 g.chr3:10370590C>T uc003bvt.3 - 22 4079 c.3640G>A c.(3640-3642)Gac>Aac p.D1214N ATP2B2_uc003bvv.3_Missense_Mutation_p.D1169N|ATP2B2_uc003bvw.3_Missense_Mutation_p.D1169N|ATP2B2_uc003bvs.3_Non-coding_Transcript|ATP2B2_uc010hdo.3_Missense_Mutation_p.D919N NM_001001331 NP_001001331 Q01814 AT2B2_HUMAN Homo sapiens ATPase, Ca++ transporting, plasma membrane 2 (ATP2B2), transcript variant 1, mRNA. 1214 ATP biosynthetic process|cytosolic calcium ion homeostasis|platelet activation cytosol|integral to membrane|plasma membrane ATP binding|PDZ domain binding|calcium ion binding|calcium-transporting ATPase activity|calmodulin binding|metal ion binding|protein C-terminus binding p.D1214N(1)|p.D1169N(1) breast(1)|central_nervous_system(2)|cervix(1)|endometrium(7)|large_intestine(19)|lung(29)|ovary(5)|prostate(2)|skin(4)|stomach(2)|urinary_tract(2) 74 ATCCCACTGTCGATGGCGCTG 0.572000 51 23 0 0 0.000586117 0 0 ADAM7 8756 broad.mit.edu 37 8 24333967 24333967 + Missense_Mutation SNP C T T TCGA-EE-A3AC-06A-11D-A196-08 TCGA-EE-A3AC-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 883d623b-c427-4444-9ee3-66d18648130f f8f00311-8db5-4187-bcb8-5054d9fbdac3 g.chr8:24333967C>T uc003xeb.3 + 7 768 c.655C>T c.(655-657)Cac>Tac p.H219Y ADAM7_uc003xec.3_5'UTR NM_003817 NP_003808 Q9H2U9 ADAM7_HUMAN Homo sapiens ADAM metallopeptidase domain 7 (ADAM7), mRNA. 219 Peptidase M12B. proteolysis integral to membrane metalloendopeptidase activity|zinc ion binding NS(1)|endometrium(5)|kidney(1)|large_intestine(17)|lung(24)|ovary(1)|skin(15) 64 Prostate(55;0.0181) Colorectal(74;0.0199)|COAD - Colon adenocarcinoma(73;0.0754)|BRCA - Breast invasive adenocarcinoma(99;0.182) TGGTCATCCTCACAATAAACT 0.308000 6 9 0 0 0.000442599 0 0 MTA2 9219 broad.mit.edu 37 11 62361997 62361997 + Silent SNP G A A TCGA-EE-A3AC-06A-11D-A196-08 TCGA-EE-A3AC-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 883d623b-c427-4444-9ee3-66d18648130f f8f00311-8db5-4187-bcb8-5054d9fbdac3 g.chr11:62361997G>A uc001ntq.2 - 15 2073 c.1683C>T c.(1681-1683)gcC>gcT p.A561A TUT1_uc001nto.2_5'Flank|MTA2_uc010rlx.1_Silent_p.A388A NM_004739 NP_004730 O94776 MTA2_HUMAN Homo sapiens metastasis associated 1 family, member 2 (MTA2), mRNA. 561 chromatin assembly or disassembly NuRD complex protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding endometrium(2)|kidney(2)|large_intestine(5)|lung(7)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(4) 26 CAGTCTCATAGGCCCGTTTCA 0.547000 31 35 0 0 0.00111076 0 0 ZNF831 128611 broad.mit.edu 37 20 57829230 57829230 + Missense_Mutation SNP C T T TCGA-EE-A3AC-06A-11D-A196-08 TCGA-EE-A3AC-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 883d623b-c427-4444-9ee3-66d18648130f f8f00311-8db5-4187-bcb8-5054d9fbdac3 g.chr20:57829230C>T uc002yan.3 + 4 4466 c.4466C>T c.(4465-4467)tCt>tTt p.S1489F NM_178457 NP_848552 Q5JPB2 ZN831_HUMAN Homo sapiens zinc finger protein 831 (ZNF831), mRNA. 1489 intracellular nucleic acid binding|zinc ion binding NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(15)|lung(71)|ovary(2)|pancreas(1)|prostate(4)|skin(16)|upper_aerodigestive_tract(2)|urinary_tract(3) 125 all_lung(29;0.0085) ATTGCTACCTCTGTGGCTGCC 0.493000 112 30 0 0 0.000491102 0 0 NCKAP5 344148 broad.mit.edu 37 2 133540798 133540798 + Missense_Mutation SNP G A A TCGA-EE-A3AC-06A-11D-A196-08 TCGA-EE-A3AC-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 883d623b-c427-4444-9ee3-66d18648130f f8f00311-8db5-4187-bcb8-5054d9fbdac3 g.chr2:133540798G>A uc002ttp.3 - 13 3960 c.3586C>T c.(3586-3588)Cca>Tca p.P1196S NCKAP5_uc002ttq.3_Intron NM_207363 NP_997246 O14513 NCKP5_HUMAN Homo sapiens NCK-associated protein 5 (NCKAP5), transcript variant 1, mRNA. 1196 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 ATGCTTGCTGGATTCTTGGAG 0.493000 26 21 0 0 0.00152264 0 0 LRRTM3 347731 broad.mit.edu 37 10 68687037 68687037 + Silent SNP C T T TCGA-EE-A3AC-06A-11D-A196-08 TCGA-EE-A3AC-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 883d623b-c427-4444-9ee3-66d18648130f f8f00311-8db5-4187-bcb8-5054d9fbdac3 g.chr10:68687037C>T uc001jmz.1 + 1 913 c.363C>T c.(361-363)atC>atT p.I121I CTNNA3_uc009xpn.1_Intron|CTNNA3_uc001jmw.2_Intron|CTNNA3_uc001jmx.4_Intron|CTNNA3_uc009xpo.1_Intron|LRRTM3_uc001jmy.3_Silent_p.I121I NM_178011 NP_821079 Q86VH5 LRRT3_HUMAN Homo sapiens leucine rich repeat transmembrane neuronal 3 (LRRTM3), mRNA. 121 integral to membrane breast(1)|cervix(1)|endometrium(3)|kidney(4)|large_intestine(6)|lung(20)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(3) 41 CCAATAGAATCTCCTATTTTC 0.393000 78 53 0 0 0.000781405 0 0 SLC25A19 60386 broad.mit.edu 37 17 73279576 73279576 + Silent SNP G A A TCGA-EE-A3AC-06A-11D-A196-08 TCGA-EE-A3AC-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 883d623b-c427-4444-9ee3-66d18648130f f8f00311-8db5-4187-bcb8-5054d9fbdac3 g.chr17:73279576G>A uc002jns.4 - 2 1297 c.387C>T c.(385-387)gcC>gcT p.A129A SLC25A19_uc010dge.3_Intron|SLC25A19_uc002jnv.4_Silent_p.A129A|SLC25A19_uc002jnu.4_Silent_p.A129A|SLC25A19_uc002jnw.4_Silent_p.A129A|SLC25A19_uc002jnt.4_Silent_p.A129A NM_021734 NP_068380 Q9HC21 TPC_HUMAN Homo sapiens solute carrier family 25 (mitochondrial thiamine pyrophosphate carrier), member 19 (SLC25A19), nuclear gene encoding mitochondrial protein, transcript variant 2, mRNA. 129 integral to membrane|mitochondrial inner membrane binding|deoxynucleotide transmembrane transporter activity breast(1)|endometrium(3)|kidney(1)|large_intestine(1)|lung(1)|ovary(1)|skin(1) 9 all_cancers(13;5.98e-08)|all_epithelial(9;1.16e-08)|Breast(9;3.1e-08) all cancers(21;6.82e-07)|Epithelial(20;6.86e-06) TGGCCATACAGGCAGCCAGGC 0.592000 13 16 0 0 0.00074312 0 0 RAPGEF3 10411 broad.mit.edu 37 12 48134707 48134707 + Silent SNP A G G TCGA-EE-A3AC-06A-11D-A196-08 TCGA-EE-A3AC-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 883d623b-c427-4444-9ee3-66d18648130f f8f00311-8db5-4187-bcb8-5054d9fbdac3 g.chr12:48134707A>G uc001rpz.4 - 19 2590 c.2040T>C c.(2038-2040)agT>agC p.S680S AL831948_uc001rpv.3_Non-coding_Transcript|RAPGEF3_uc001rpw.3_5'UTR|RAPGEF3_uc001rpx.3_Silent_p.S95S|RAPGEF3_uc010sln.2_Silent_p.S153S|RAPGEF3_uc001rpy.3_Non-coding_Transcript|RAPGEF3_uc009zkp.3_Silent_p.S638S|RAPGEF3_uc009zkq.3_Silent_p.S638S NM_001098531 NP_006096 A8K2G5 A8K2G5_HUMAN Homo sapiens Rap guanine nucleotide exchange factor (GEF) 3 (RAPGEF3), transcript variant 1, mRNA. 638 regulation of protein phosphorylation|regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction cAMP-dependent protein kinase complex cAMP-dependent protein kinase regulator activity|guanyl-nucleotide exchange factor activity endometrium(1)|kidney(2)|large_intestine(4)|lung(9)|pancreas(1)|prostate(1)|skin(7) 25 Lung SC(27;0.192) GBM - Glioblastoma multiforme(48;0.0375) CCTGGTGGATACTGTTGAAGA 0.682000 24 13 0 0 0.000566183 0 0 ARHGEF17 9828 broad.mit.edu 37 11 73067264 73067264 + Silent SNP C T T TCGA-EE-A3AC-06A-11D-A196-08 TCGA-EE-A3AC-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 883d623b-c427-4444-9ee3-66d18648130f f8f00311-8db5-4187-bcb8-5054d9fbdac3 g.chr11:73067264C>T uc001otu.3 + 5 3729 c.3708C>T c.(3706-3708)ctC>ctT p.L1236L NM_014786 NP_055601 Q96PE2 ARHGH_HUMAN Homo sapiens Rho guanine nucleotide exchange factor (GEF) 17 (ARHGEF17), mRNA. 1236 DH. actin cytoskeleton organization|apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction cytosol Rho guanyl-nucleotide exchange factor activity endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(15)|ovary(2)|skin(2) 32 ACCATCCACTCCTGCTGGAGG 0.652000 15 12 0 0 0.00136819 0 0 PGRMC2 10424 broad.mit.edu 37 4 129193638 129193638 + Silent SNP G A A TCGA-EE-A3AC-06A-11D-A196-08 TCGA-EE-A3AC-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 883d623b-c427-4444-9ee3-66d18648130f f8f00311-8db5-4187-bcb8-5054d9fbdac3 g.chr4:129193638G>A uc003igg.3 - 1 1492 c.525C>T c.(523-525)gcC>gcT p.A175A NM_006320 NP_006311 Homo sapiens progesterone receptor membrane component 2 (PGRMC2), mRNA. GTCCTCTGGAGGCATCCCTAC 0.373000 22 9 0 0 0.000442599 0 0 USP19 10869 broad.mit.edu 37 3 49154907 49154907 + Missense_Mutation SNP G A A TCGA-EE-A3AC-06A-11D-A196-08 TCGA-EE-A3AC-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 883d623b-c427-4444-9ee3-66d18648130f f8f00311-8db5-4187-bcb8-5054d9fbdac3 g.chr3:49154907G>A uc003cwd.2 - 4 888 c.569C>T c.(568-570)cCc>cTc p.P190L USP19_uc003cwa.3_5'UTR|USP19_uc003cwb.3_Missense_Mutation_p.P175L|USP19_uc003cvz.4_Missense_Mutation_p.P190L|USP19_uc011bcg.2_Missense_Mutation_p.P190L|USP19_uc003cwc.2_5'Flank|USP19_uc011bch.2_Missense_Mutation_p.P190L|USP19_uc011bci.2_Missense_Mutation_p.P175L NM_006677 NP_006668 O94966 UBP19_HUMAN Homo sapiens ubiquitin specific peptidase 19 (USP19), transcript variant 4, mRNA. 190 CS 1. ER-associated protein catabolic process|positive regulation of cell cycle process|protein deubiquitination|regulation of protein stability|response to endoplasmic reticulum stress|skeletal muscle atrophy endoplasmic reticulum membrane|integral to membrane ubiquitin thiolesterase activity|ubiquitin-specific protease activity|zinc ion binding NS(1)|breast(3)|endometrium(5)|kidney(2)|large_intestine(10)|lung(5)|ovary(4)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2) 38 BRCA - Breast invasive adenocarcinoma(193;8.01e-05)|Kidney(197;0.00219)|KIRC - Kidney renal clear cell carcinoma(197;0.00245) CACCTTTTTGGGCAGTGTCAG 0.552000 33 20 0 0 0.00229938 0 0 IKZF1 10320 broad.mit.edu 37 7 50468178 50468178 + Silent SNP C T T TCGA-EE-A3AC-06A-11D-A196-08 TCGA-EE-A3AC-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 883d623b-c427-4444-9ee3-66d18648130f f8f00311-8db5-4187-bcb8-5054d9fbdac3 g.chr7:50468178C>T uc003tow.4 + 7 1568 c.1413C>T c.(1411-1413)ttC>ttT p.F471F IKZF1_uc022acq.1_Silent_p.F328F|IKZF1_uc003tpa.4_Silent_p.F236F|IKZF1_uc022acr.1_Silent_p.F246F|IKZF1_uc022acs.1_Silent_p.F201F|IKZF1_uc022act.1_Silent_p.F374F|IKZF1_uc022acu.1_Silent_p.F384F|IKZF1_uc003tox.4_Silent_p.F429F|IKZF1_uc022acv.1_Silent_p.F332F|IKZF1_uc022acw.1_Silent_p.F342F|IKZF1_uc022acx.1_Silent_p.F384F|IKZF1_uc022acy.1_Silent_p.F278F|IKZF1_uc022acz.1_Silent_p.F288F|IKZF1_uc011kck.2_Silent_p.F384F|IKZF1_uc003toy.4_Silent_p.F429F|IKZF1_uc003toz.4_Silent_p.F441F|IKZF1_uc010kyx.3_Silent_p.F211F NM_006060 NP_006051 Q13422 IKZF1_HUMAN Homo sapiens IKAROS family zinc finger 1 (Ikaros) (IKZF1), transcript variant 1, mRNA. 471 Required for binding PP1CC (By similarity). cell cycle|chromatin modification|mesoderm development cytoplasm|nucleus zinc ion binding p.?(28) haematopoietic_and_lymphoid_tissue(275)|lung(1) 276 Glioma(55;0.08)|all_neural(89;0.245) Acute lymphoblastic leukemia(4;7.29e-10)|all_hematologic(4;4.8e-07) GGGTGCTCTTCCTGGATCACG 0.617000 """D,T""" BCL6 """ALL, DLBCL""" 10 6 0 0 0.00198382 0 0 MCM8 84515 broad.mit.edu 37 20 5932719 5932719 + Missense_Mutation SNP A G G TCGA-EE-A3AC-06A-11D-A196-08 TCGA-EE-A3AC-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 883d623b-c427-4444-9ee3-66d18648130f f8f00311-8db5-4187-bcb8-5054d9fbdac3 g.chr20:5932719A>G uc002wmk.3 + 1 435 c.58A>G c.(58-60)Agg>Ggg p.R20G TRMT6_uc002wmh.1_5'Flank|TRMT6_uc010zra.1_5'Flank|TRMT6_uc010gbn.1_5'Flank|TRMT6_uc010gbo.1_5'Flank|MCM8_uc002wmi.3_Missense_Mutation_p.R20G|MCM8_uc002wmj.3_Missense_Mutation_p.R20G|MCM8_uc002wml.3_Missense_Mutation_p.R20G|MCM8_uc010gbp.3_Missense_Mutation_p.R20G NM_032485 NP_115874 Q9UJA3 MCM8_HUMAN Homo sapiens minichromosome maintenance complex component 8 (MCM8), transcript variant 1, mRNA. 20 DNA strand elongation involved in DNA replication|G1/S transition of mitotic cell cycle|M/G1 transition of mitotic cell cycle|S phase of mitotic cell cycle|cell cycle checkpoint|regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleoplasm ATP binding|DNA binding|nucleoside-triphosphatase activity cervix(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(9)|prostate(2)|skin(3)|upper_aerodigestive_tract(2) 23 AAGCTGGAAAAGGGGAAGAGG 0.428000 38 4 0 0 0.000602214 0 0 TMF1 7110 broad.mit.edu 37 3 69092986 69092986 + Missense_Mutation SNP G A A TCGA-EE-A3AC-06A-11D-A196-08 TCGA-EE-A3AC-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 883d623b-c427-4444-9ee3-66d18648130f f8f00311-8db5-4187-bcb8-5054d9fbdac3 g.chr3:69092986G>A uc011bfx.2 - 3 1749 c.1502C>T c.(1501-1503)tCc>tTc p.S501F TMF1_uc003dnn.3_Missense_Mutation_p.S498F NM_007114 NP_009045 P82094 TMF1_HUMAN Homo sapiens TATA element modulatory factor 1 (TMF1), mRNA. 498 regulation of transcription, DNA-dependent|transcription from RNA polymerase II promoter Golgi membrane|nucleus DNA binding|protein binding|transcription cofactor activity cervix(1)|kidney(1)|large_intestine(4)|lung(13)|prostate(1)|skin(1)|upper_aerodigestive_tract(1) 22 Lung NSC(201;0.0193)|Prostate(884;0.174) BRCA - Breast invasive adenocarcinoma(55;4.48e-05)|Epithelial(33;0.000274)|LUSC - Lung squamous cell carcinoma(21;0.0123)|KIRC - Kidney renal clear cell carcinoma(39;0.211)|Kidney(39;0.247) ATCTTTCAAGGAAGAAATGCT 0.323000 35 13 0 0 0.00136819 0 0 PTPRT 11122 broad.mit.edu 37 20 40980866 40980866 + Silent SNP C T T TCGA-EE-A3AC-06A-11D-A196-08 TCGA-EE-A3AC-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 883d623b-c427-4444-9ee3-66d18648130f f8f00311-8db5-4187-bcb8-5054d9fbdac3 g.chr20:40980866C>T uc002xkg.3 - 9 1804 c.1620G>A c.(1618-1620)ggG>ggA p.G540G PTPRT_uc010ggj.3_Silent_p.G540G NM_007050 NP_008981 O14522 PTPRT_HUMAN Homo sapiens protein tyrosine phosphatase, receptor type, T (PTPRT), transcript variant 2, mRNA. 540 Fibronectin type-III 3. homophilic cell adhesion|transmembrane receptor protein tyrosine kinase signaling pathway cell surface|integral to membrane|plasma membrane alpha-catenin binding|beta-catenin binding|cadherin binding|delta-catenin binding|gamma-catenin binding|protein tyrosine phosphatase activity|receptor activity NS(2)|breast(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(4)|kidney(12)|large_intestine(26)|liver(1)|lung(63)|ovary(8)|pancreas(2)|prostate(5)|skin(35)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(3) 176 Myeloproliferative disorder(115;0.00452)|Lung NSC(126;0.0573)|all_lung(126;0.0783) TGAACACTTTCCCCCTCTGGC 0.527000 53 86 0 0 0.000781405 0 0 NUCB2 4925 broad.mit.edu 37 11 17316984 17316984 + Silent SNP C T T TCGA-EE-A3AC-06A-11D-A196-08 TCGA-EE-A3AC-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 883d623b-c427-4444-9ee3-66d18648130f f8f00311-8db5-4187-bcb8-5054d9fbdac3 g.chr11:17316984C>T uc001mmw.3 + 2 359 c.114C>T c.(112-114)caC>caT p.H38H NUCB2_uc001mms.1_Silent_p.H39H|NUCB2_uc001mmt.1_Silent_p.H38H|NUCB2_uc009ygw.1_Non-coding_Transcript|NUCB2_uc001mmv.1_Silent_p.H38H|NUCB2_uc009ygx.1_Non-coding_Transcript|NUCB2_uc009ygy.1_Silent_p.H38H|NUCB2_uc009ygz.3_Silent_p.H38H NM_005013 NP_005004 P80303 NUCB2_HUMAN Homo sapiens nucleobindin 2 (NUCB2), mRNA. 38 ER-Golgi intermediate compartment|Golgi apparatus|cytosol|extracellular space|plasma membrane DNA binding|calcium ion binding kidney(1)|large_intestine(2)|lung(8)|prostate(1)|skin(1)|upper_aerodigestive_tract(1) 14 AAAATATTCACCCTGTGGAAA 0.348000 100 73 0 0 0.000781405 0 0 ADCY10 55811 broad.mit.edu 37 1 167817666 167817666 + Missense_Mutation SNP A C C TCGA-EE-A3AC-06A-11D-A196-08 TCGA-EE-A3AC-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 883d623b-c427-4444-9ee3-66d18648130f f8f00311-8db5-4187-bcb8-5054d9fbdac3 g.chr1:167817666A>C uc001ger.3 - 18 2668 c.2370T>G c.(2368-2370)agT>agG p.S790R ADCY10_uc010plj.2_Missense_Mutation_p.S637R|ADCY10_uc009wvk.3_Missense_Mutation_p.S698R|ADCY10_uc009wvl.3_Missense_Mutation_p.S789R NM_018417 NP_001161221 Q96PN6 ADCYA_HUMAN Homo sapiens adenylate cyclase 10 (soluble) (ADCY10), transcript variant 1, mRNA. 790 intracellular signal transduction|spermatogenesis cytoskeleton|cytosol|perinuclear region of cytoplasm|plasma membrane|soluble fraction ATP binding|adenylate cyclase activity|magnesium ion binding autonomic_ganglia(1)|breast(1)|central_nervous_system(3)|cervix(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(11)|lung(26)|ovary(2)|prostate(4)|skin(6)|stomach(1)|urinary_tract(1) 63 AGACTTCTTCACTTTCCTTAT 0.423000 73 29 0 0 0.0024448 0 0 UNC5B 219699 broad.mit.edu 37 10 73056340 73056340 + Silent SNP C T T TCGA-EE-A3AC-06A-11D-A196-08 TCGA-EE-A3AC-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 883d623b-c427-4444-9ee3-66d18648130f f8f00311-8db5-4187-bcb8-5054d9fbdac3 g.chr10:73056340C>T uc001jro.3 + 14 2782 c.2331C>T c.(2329-2331)atC>atT p.I777I UNC5B_uc001jrp.3_Silent_p.I766I NM_170744 NP_734465 Q8IZJ1 UNC5B_HUMAN Homo sapiens unc-5 homolog B (C. elegans) (UNC5B), transcript variant 1, mRNA. 777 apoptosis|axon guidance|regulation of apoptosis integral to membrane breast(2)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(8)|lung(17)|ovary(4)|prostate(4)|skin(4) 49 TGCAGGAGATCCCCTTCTATC 0.607000 12 8 0 0 0.000157383 0 0 OR5R1 219479 broad.mit.edu 37 11 56185123 56185123 + Missense_Mutation SNP C T T TCGA-EE-A3AC-06A-11D-A196-08 TCGA-EE-A3AC-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 883d623b-c427-4444-9ee3-66d18648130f f8f00311-8db5-4187-bcb8-5054d9fbdac3 g.chr11:56185123C>T uc010rji.2 - 0 586 c.586G>A c.(586-588)Gaa>Aaa p.E196K OR8U8_uc001nit.2_Intron NM_001004744 NP_001004744 Q8NH85 OR5R1_HUMAN Homo sapiens olfactory receptor, family 5, subfamily R, member 1 (OR5R1), mRNA. 196 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity p.E196K(2) NS(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|liver(1)|lung(17)|ovary(2)|prostate(3)|stomach(1)|upper_aerodigestive_tract(1) 37 Esophageal squamous(21;0.00448) ATCAGAATTTCCTTCATGTGT 0.433000 32 20 0 0 0.000958276 0 0 MAGEL2 54551 broad.mit.edu 37 15 23890640 23890640 + Missense_Mutation SNP C T T TCGA-EE-A3AC-06A-11D-A196-08 TCGA-EE-A3AC-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 883d623b-c427-4444-9ee3-66d18648130f f8f00311-8db5-4187-bcb8-5054d9fbdac3 g.chr15:23890640C>T uc001ywj.4 - 0 2354 c.2250G>A c.(2248-2250)atG>atA p.M750I NM_019066 NP_061939 Homo sapiens MAGE-like 2 (MAGEL2), mRNA. breast(1)|endometrium(1)|large_intestine(2)|lung(2)|upper_aerodigestive_tract(1) 7 all_cancers(20;1.78e-24)|all_epithelial(15;7.75e-22)|Lung NSC(15;2.96e-18)|all_lung(15;2.8e-17)|Breast(32;0.000625)|Colorectal(260;0.14) all cancers(64;1.84e-06)|Epithelial(43;1.2e-05)|BRCA - Breast invasive adenocarcinoma(123;0.00177) CAGCAAAGATCATGCGGTCTT 0.597000 30 15 0 0 0.000308642 0 0 DYDC1 143241 broad.mit.edu 37 10 82098294 82098294 + Missense_Mutation SNP C T T TCGA-EE-A3AC-06A-11D-A196-08 TCGA-EE-A3AC-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 883d623b-c427-4444-9ee3-66d18648130f f8f00311-8db5-4187-bcb8-5054d9fbdac3 g.chr10:82098294C>T uc001kby.1 - 6 598 c.433G>A c.(433-435)Gaa>Aaa p.E145K DYDC1_uc001kbx.3_Missense_Mutation_p.E145K|DYDC1_uc009xsr.1_Missense_Mutation_p.E145K Q8WWB3 DYDC1_HUMAN Homo sapiens DPY30 domain containing 1 (DYDC1), mRNA. 145 kidney(1)|large_intestine(3)|skin(1) 5 Colorectal(32;0.229) TCGCTGATTTCAGCTAGTGTT 0.328000 61 43 0 0 0.000781405 0 0 IL36G 56300 broad.mit.edu 37 2 113736264 113736264 + Nonsense_Mutation SNP C T T TCGA-EE-A3AC-06A-11D-A196-08 TCGA-EE-A3AC-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 883d623b-c427-4444-9ee3-66d18648130f f8f00311-8db5-4187-bcb8-5054d9fbdac3 g.chr2:113736264C>T uc002tio.1 + 1 118 c.49C>T c.(49-51)Caa>Taa p.Q17* IL36G_uc010fkr.1_Nonsense_Mutation_p.Q17* NM_019618 NP_062564 Q9NZH8 IL36G_HUMAN Homo sapiens interleukin 36, gamma (IL36G), mRNA. 17 cell-cell signaling extracellular space cytokine activity|interleukin-1 receptor antagonist activity breast(1)|central_nervous_system(1)|large_intestine(1)|lung(8)|ovary(1)|prostate(1)|skin(1) 14 GGCCGTCTATCAATCAAGTGA 0.537000 42 31 0 0 0.000491102 0 0 SMR3A 26952 broad.mit.edu 37 4 71255434 71255434 + Missense_Mutation SNP C T T TCGA-EE-A3AC-06A-11D-A196-08 TCGA-EE-A3AC-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 883d623b-c427-4444-9ee3-66d18648130f f8f00311-8db5-4187-bcb8-5054d9fbdac3 g.chr4:71255434C>T uc011cas.2 + 2 190 c.109C>T c.(109-111)Cct>Tct p.P37S SMR3A_uc003hfh.3_Missense_Mutation_p.P37S NM_006685 NP_006676 Q99954 SMR3A_HUMAN Homo sapiens submaxillary gland androgen regulated protein 3B (SMR3B), mRNA. 37 Poly-Pro.|Pro-rich. extracellular region endometrium(1)|large_intestine(1)|lung(7)|ovary(1)|prostate(1)|skin(4) 15 all_hematologic(202;0.196) ACCGCTGGCTCCTCCTCAACC 0.532000 20 13 0 0 0.000422831 0 0 OR8H3 390152 broad.mit.edu 37 11 55890025 55890025 + Silent SNP C T T TCGA-EE-A3AC-06A-11D-A196-08 TCGA-EE-A3AC-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 883d623b-c427-4444-9ee3-66d18648130f f8f00311-8db5-4187-bcb8-5054d9fbdac3 g.chr11:55890025C>T uc001nii.1 + 0 177 c.177C>T c.(175-177)ccC>ccT p.P59P NM_001005201 NP_001005201 Q8N146 OR8H3_HUMAN Homo sapiens olfactory receptor, family 8, subfamily H, member 3 (OR8H3), mRNA. 59 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(30)|ovary(2)|prostate(1)|skin(3)|stomach(1) 42 Esophageal squamous(21;0.00693) TTCACACTCCCATGTATTTTT 0.413000 103 31 0 0 0.000953801 0 0 GRIA4 2893 broad.mit.edu 37 11 105850336 105850336 + Missense_Mutation SNP G A A TCGA-EE-A3AC-06A-11D-A196-08 TCGA-EE-A3AC-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 883d623b-c427-4444-9ee3-66d18648130f f8f00311-8db5-4187-bcb8-5054d9fbdac3 g.chr11:105850336G>A uc001pix.2 + 16 3025 c.2579G>A c.(2578-2580)aGa>aAa p.R860K GRIA4_uc001piw.2_3'UTR|GRIA4_uc009yxl.1_Non-coding_Transcript NM_000829 NP_000820 P48058 GRIA4_HUMAN Homo sapiens glutamate receptor, ionotrophic, AMPA 4 (GRIA4), transcript variant 1, mRNA. 860 glutamate signaling pathway|synaptic transmission cell junction|endocytic vesicle membrane|integral to membrane|postsynaptic membrane alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity|extracellular-glutamate-gated ion channel activity NS(1)|breast(1)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(24)|liver(2)|lung(25)|ovary(4)|pancreas(1)|prostate(3)|skin(5)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(6) 82 Melanoma(852;0.000902)|Acute lymphoblastic leukemia(157;0.000994)|all_hematologic(158;0.0017)|Breast(348;0.0323) BRCA - Breast invasive adenocarcinoma(274;0.000147)|Epithelial(105;0.0291)|all cancers(92;0.0899) L-Glutamic Acid(DB00142) AACAAAGCCAGATTATCCATC 0.473000 59 40 0 0 0.000781405 0 0 MMADHC 27249 broad.mit.edu 37 2 150426675 150426676 + Missense_Mutation DNP CC TT TT TCGA-EE-A3AC-06A-11D-A196-08 TCGA-EE-A3AC-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 883d623b-c427-4444-9ee3-66d18648130f f8f00311-8db5-4187-bcb8-5054d9fbdac3 g.chr2:150426675_150426676CC>TT uc002txc.3 - 7 908_909 c.703_704GG>AA c.(703-705)gga>AAa p.G235K NM_015702 NP_056517 Q9H3L0 MMAD_HUMAN Homo sapiens methylmalonic aciduria (cobalamin deficiency) cblD type, with homocystinuria (MMADHC), nuclear gene encoding mitochondrial protein, mRNA. 235 mitochondrion breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(2)|lung(4)|skin(2) 11 TGTATATGGTCCAAAAAACTGA 0.317000 13 6 0 0 6.4e-05 0 0 SVIL 6840 broad.mit.edu 37 10 29839933 29839933 + Silent SNP C T T TCGA-EE-A3AC-06A-11D-A196-08 TCGA-EE-A3AC-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 883d623b-c427-4444-9ee3-66d18648130f f8f00311-8db5-4187-bcb8-5054d9fbdac3 g.chr10:29839933C>T uc001iut.1 - 5 1173 c.420G>A c.(418-420)agG>agA p.R140R SVIL_uc001iuu.1_Silent_p.R140R|SVIL_uc009xld.1_Silent_p.R140R NM_021738 NP_068506 O95425 SVIL_HUMAN Homo sapiens supervillin (SVIL), transcript variant 2, mRNA. 140 Interaction with MYLK (By similarity). cytoskeleton organization|skeletal muscle tissue development cell junction|costamere|invadopodium|nucleus|podosome actin filament binding breast(1)|central_nervous_system(3)|cervix(1)|endometrium(17)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(24)|lung(35)|ovary(8)|prostate(2)|skin(4)|stomach(7)|upper_aerodigestive_tract(2)|urinary_tract(2) 112 Breast(68;0.103) CAGGCTCCTTCCTGGACTTGG 0.542000 43 21 0 0 0.00152264 0 0 NCAN 1463 broad.mit.edu 37 19 19345817 19345817 + Silent SNP C T T TCGA-EE-A3AC-06A-11D-A196-08 TCGA-EE-A3AC-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 883d623b-c427-4444-9ee3-66d18648130f f8f00311-8db5-4187-bcb8-5054d9fbdac3 g.chr19:19345817C>T uc002nlz.3 + 9 3261 c.3162C>T c.(3160-3162)ccC>ccT p.P1054P NCAN_uc010ecc.1_Silent_p.P618P NM_004386 NP_004377 O14594 NCAN_HUMAN Homo sapiens neurocan (NCAN), mRNA. 1054 EGF-like 2; calcium-binding (Potential). 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) TCTGCAGCCCCTGTGAGAATG 0.532000 70 40 0 0 0.000509022 0 0 RWDD4 201965 broad.mit.edu 37 4 184572437 184572437 + Missense_Mutation SNP G A A TCGA-EE-A3AC-06A-11D-A196-08 TCGA-EE-A3AC-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 883d623b-c427-4444-9ee3-66d18648130f f8f00311-8db5-4187-bcb8-5054d9fbdac3 g.chr4:184572437G>A uc021xvb.1 - 2 375 c.149C>T c.(148-150)tCc>tTc p.S50F RWDD4_uc003ivt.1_Missense_Mutation_p.S50F|RWDD4_uc011ckl.1_Intron NM_152682 NP_689895 Q6NW29 RWDD4_HUMAN Homo sapiens RWD domain containing 4 (RWDD4), mRNA. 50 RWD. large_intestine(2)|lung(4)|ovary(1)|prostate(1) 8 TTCTGTCCAGGAAATCTCTAT 0.358000 79 37 0 0 0.000680045 0 0 TMPRSS11E 28983 broad.mit.edu 37 4 69343147 69343147 + Missense_Mutation SNP G A A TCGA-EE-A3AC-06A-11D-A196-08 TCGA-EE-A3AC-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 883d623b-c427-4444-9ee3-66d18648130f f8f00311-8db5-4187-bcb8-5054d9fbdac3 g.chr4:69343147G>A uc003hdz.4 + 7 832 c.768G>A c.(766-768)atG>atA p.M256I NM_014058 NP_054777 Q9UL52 TM11E_HUMAN Homo sapiens transmembrane protease, serine 11E (TMPRSS11E), mRNA. 256 Peptidase S1. proteolysis extracellular region|integral to plasma membrane serine-type endopeptidase activity endometrium(1)|lung(19)|pancreas(1)|skin(3) 24 CTTCGAAAATGAAACGGGGTC 0.383000 77 53 0 0 0.000781405 0 0 NEIL3 55247 broad.mit.edu 37 4 178257437 178257437 + Missense_Mutation SNP G A A TCGA-EE-A3AC-06A-11D-A196-08 TCGA-EE-A3AC-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 883d623b-c427-4444-9ee3-66d18648130f f8f00311-8db5-4187-bcb8-5054d9fbdac3 g.chr4:178257437G>A uc003iut.2 + 3 706 c.589G>A c.(589-591)Gaa>Aaa p.E197K NEIL3_uc010irs.3_Missense_Mutation_p.E100K NM_018248 NP_060718 Q8TAT5 NEIL3_HUMAN Homo sapiens nei endonuclease VIII-like 3 (E. coli) (NEIL3), mRNA. 197 base-excision repair|nucleotide-excision repair nucleus DNA N-glycosylase activity|DNA-(apurinic or apyrimidinic site) lyase activity|bubble DNA binding|damaged DNA binding|double-stranded DNA binding|single-stranded DNA binding|zinc ion binding breast(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(4)|lung(14)|ovary(1)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 29 Breast(14;6.27e-05)|Melanoma(52;0.00102)|Renal(120;0.00988)|Prostate(90;0.00996)|all_hematologic(60;0.014)|all_neural(102;0.164) all cancers(43;1.96e-23)|Epithelial(43;2.52e-20)|OV - Ovarian serous cystadenocarcinoma(60;1.89e-11)|GBM - Glioblastoma multiforme(59;9.49e-05)|Colorectal(24;0.00013)|COAD - Colon adenocarcinoma(29;0.000696)|STAD - Stomach adenocarcinoma(60;0.00308)|LUSC - Lung squamous cell carcinoma(193;0.0398)|READ - Rectum adenocarcinoma(43;0.191) CATCAAAAATGAAGCTCTCTT 0.393000 Base excision repair (BER), DNA glycosylases 59 47 0 0 0.000781405 0 0 OR2L8 391190 broad.mit.edu 37 1 248112855 248112855 + Silent SNP G A A TCGA-EE-A3AC-06A-11D-A196-08 TCGA-EE-A3AC-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 883d623b-c427-4444-9ee3-66d18648130f f8f00311-8db5-4187-bcb8-5054d9fbdac3 g.chr1:248112855G>A uc001idt.1 + 0 696 c.696G>A c.(694-696)ggG>ggA p.G232G OR2L13_uc001ids.3_Intron NM_001001963 NP_001001963 Q8NGY9 OR2L8_HUMAN Homo sapiens olfactory receptor, family 2, subfamily L, member 8 (OR2L8), mRNA. 232 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity endometrium(1)|kidney(3)|large_intestine(3)|lung(30)|ovary(1)|prostate(1)|skin(3) 42 all_cancers(71;0.000139)|all_epithelial(71;1.58e-05)|Breast(184;0.0117)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136) OV - Ovarian serous cystadenocarcinoma(106;0.0152) CTGCAGAAGGGAGGAAGAAAG 0.448000 59 22 0 0 0.000375601 0 0 CDS2 8760 broad.mit.edu 37 20 5154287 5154287 + Missense_Mutation SNP T G G TCGA-EE-A3AC-06A-11D-A196-08 TCGA-EE-A3AC-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 883d623b-c427-4444-9ee3-66d18648130f f8f00311-8db5-4187-bcb8-5054d9fbdac3 g.chr20:5154287T>G uc002wls.3 + 1 508 c.176T>G c.(175-177)cTt>cGt p.L59R CDS2_uc002wlr.2_5'UTR|CDS2_uc002wlw.3_Intron|CDS2_uc002wlv.3_5'Flank NM_003818 NP_003809 O95674 CDS2_HUMAN Homo sapiens CDP-diacylglycerol synthase (phosphatidate cytidylyltransferase) 2 (CDS2), mRNA. 59 phospholipid biosynthetic process integral to membrane|mitochondrial inner membrane phosphatidate cytidylyltransferase activity cervix(1)|endometrium(1)|kidney(1)|large_intestine(5)|lung(4)|prostate(1)|stomach(1) 14 AATAGGGCCCTTTCCAACTTG 0.567000 101 72 0 0 0.000781405 0 0 KTN1 3895 broad.mit.edu 37 14 56133973 56133973 + Silent SNP G A A TCGA-EE-A3AC-06A-11D-A196-08 TCGA-EE-A3AC-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 883d623b-c427-4444-9ee3-66d18648130f f8f00311-8db5-4187-bcb8-5054d9fbdac3 g.chr14:56133973G>A uc001xcb.3 + 34 3494 c.3192G>A c.(3190-3192)caG>caA p.Q1064Q KTN1_uc001xcc.3_Silent_p.Q1064Q|KTN1_uc001xcd.3_Silent_p.Q1041Q|KTN1_uc001xce.3_Silent_p.Q1035Q|KTN1_uc010trb.2_Silent_p.Q1064Q|KTN1_uc001xcf.1_Silent_p.Q1041Q|KTN1_uc010aoq.3_Silent_p.Q330Q|KTN1_uc010trc.2_Silent_p.Q69Q|KTN1_uc001xcg.3_Silent_p.Q25Q NM_182926 NP_891556 Q86UP2 KTN1_HUMAN Homo sapiens kinectin 1 (kinesin receptor) (KTN1), transcript variant 1, mRNA. 1064 microtubule-based movement endoplasmic reticulum membrane|integral to plasma membrane|membrane fraction p.Q1063E(1) breast(4)|central_nervous_system(1)|large_intestine(8)|lung(1)|ovary(3)|skin(1)|upper_aerodigestive_tract(1) 19 GGCAGCAACAGGTGGAAGCTG 0.308000 T RET papillary thryoid 36 28 0 0 0.000491102 0 0 TMEM182 130827 broad.mit.edu 37 2 103431269 103431269 + Missense_Mutation SNP G A A TCGA-EE-A3AC-06A-11D-A196-08 TCGA-EE-A3AC-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 883d623b-c427-4444-9ee3-66d18648130f f8f00311-8db5-4187-bcb8-5054d9fbdac3 g.chr2:103431269G>A uc010fjb.3 + 4 719 c.532G>A c.(532-534)Gaa>Aaa p.E178K TMEM182_uc002tcc.4_Missense_Mutation_p.E135K|TMEM182_uc002tcd.4_Missense_Mutation_p.E82K|TMEM182_uc010ywe.2_Non-coding_Transcript NM_144632 NP_653233 Q6ZP80 TM182_HUMAN Homo sapiens transmembrane protein 182 (TMEM182), mRNA. 178 integral to membrane breast(1)|endometrium(1)|kidney(2)|large_intestine(2)|lung(5) 11 GGCTGACATGGAAAGCTACCG 0.463000 10 7 0 0 0.00198382 0 0 OR8S1 341568 broad.mit.edu 37 12 48919933 48919933 + Silent SNP C T T TCGA-EE-A3AC-06A-11D-A196-08 TCGA-EE-A3AC-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 883d623b-c427-4444-9ee3-66d18648130f f8f00311-8db5-4187-bcb8-5054d9fbdac3 g.chr12:48919933C>T uc010slu.2 + 0 519 c.519C>T c.(517-519)atC>atT p.I173I NM_001005203 NP_001005203 Q8NH09 OR8S1_HUMAN Homo sapiens olfactory receptor, family 8, subfamily S, member 1 (OR8S1), mRNA. 173 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(11)|skin(4) 22 AAGCCAAAATCATTCACCACT 0.507000 51 32 0 0 0.0024448 0 0 SV2B 9899 broad.mit.edu 37 15 91795186 91795187 + Missense_Mutation DNP GG AA AA TCGA-EE-A3AC-06A-11D-A196-08 TCGA-EE-A3AC-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 883d623b-c427-4444-9ee3-66d18648130f f8f00311-8db5-4187-bcb8-5054d9fbdac3 g.chr15:91795186_91795187GG>AA uc002bqv.3 + 3 1480_1481 c.589_590GG>AA c.(589-591)gga>AAa p.G197K SV2B_uc002bqt.3_Missense_Mutation_p.G197K|SV2B_uc002bqu.4_Non-coding_Transcript|SV2B_uc010uqv.2_Missense_Mutation_p.G46K NM_014848 NP_055663 Q7L1I2 SV2B_HUMAN Homo sapiens synaptic vesicle glycoprotein 2B (SV2B), transcript variant 1, mRNA. 197 neurotransmitter transport acrosomal vesicle|cell junction|integral to membrane|synaptic vesicle membrane transmembrane transporter activity NS(1)|central_nervous_system(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(10)|lung(17)|ovary(4)|prostate(1)|skin(2)|upper_aerodigestive_tract(1) 42 Lung NSC(78;0.0987)|all_lung(78;0.172) BRCA - Breast invasive adenocarcinoma(143;0.0895) CTTCGTGCAGGGATATGGAGCC 0.579000 123 79 0 0 6.4e-05 0 0 TRBV9 28586 broad.mit.edu 37 7 142239805 142239805 + Missense_Mutation SNP T A A TCGA-EE-A3AC-06A-11D-A196-08 TCGA-EE-A3AC-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 883d623b-c427-4444-9ee3-66d18648130f f8f00311-8db5-4187-bcb8-5054d9fbdac3 g.chr7:142239805T>A uc011ksd.2 - 1 86 c.75A>T c.(73-75)caA>caT p.Q25H TRBV5-1_uc011krr.1_Intron|BV13S6J2.1_uc011krx.2_Intron|BV13S6J2.1_uc011ksa.2_Intron|TRBV9_uc022ann.1_5'Flank SubName: Full=V_segment translation product; Flags: Fragment; GCTTTGGGGTTTGTGTGACTC 0.532000 17 10 0 0 0.00185496 0 0 LAMA1 284217 broad.mit.edu 37 18 6961617 6961617 + Missense_Mutation SNP C T T TCGA-EE-A3AC-06A-11D-A196-08 TCGA-EE-A3AC-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 883d623b-c427-4444-9ee3-66d18648130f f8f00311-8db5-4187-bcb8-5054d9fbdac3 g.chr18:6961617C>T uc002knm.3 - 52 7688 c.7594G>A c.(7594-7596)Gag>Aag p.E2532K LAMA1_uc002knl.3_5'UTR|LAMA1_uc010wzj.2_Missense_Mutation_p.E2008K NM_005559 NP_005550 P25391 LAMA1_HUMAN Homo sapiens laminin, alpha 1 (LAMA1), mRNA. 2532 Laminin G-like 3. axon guidance|cell adhesion|cell surface receptor linked signaling pathway|regulation of cell adhesion|regulation of cell migration|regulation of embryonic development extracellular space|laminin-1 complex|laminin-3 complex extracellular matrix structural constituent|receptor binding NS(4)|breast(7)|central_nervous_system(3)|cervix(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(12)|large_intestine(49)|liver(1)|lung(71)|ovary(9)|pancreas(3)|prostate(5)|skin(11)|stomach(7)|upper_aerodigestive_tract(8)|urinary_tract(3) 205 Colorectal(10;0.172) Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Tenecteplase(DB00031) CCCCGCTTCTCCACATCCCCG 0.537000 22 7 0 0 0.000157383 0 0 SORCS3 22986 broad.mit.edu 37 10 106974284 106974284 + Silent SNP C T T TCGA-EE-A3AC-06A-11D-A196-08 TCGA-EE-A3AC-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 883d623b-c427-4444-9ee3-66d18648130f f8f00311-8db5-4187-bcb8-5054d9fbdac3 g.chr10:106974284C>T uc001kyi.1 + 17 2687 c.2460C>T c.(2458-2460)gcC>gcT p.A820A SORCS3_uc010qqz.1_Non-coding_Transcript NM_014978 NP_055793 Q9UPU3 SORC3_HUMAN Homo sapiens sortilin-related VPS10 domain containing receptor 3 (SORCS3), mRNA. 820 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) CTGGAAAAGCCCCTCGGGGCC 0.567000 27 12 0 0 0.000978159 0 0 KAT6A 7994 broad.mit.edu 37 8 41792157 41792157 + Missense_Mutation SNP G A A TCGA-EE-A3AC-06A-11D-A196-08 TCGA-EE-A3AC-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 883d623b-c427-4444-9ee3-66d18648130f f8f00311-8db5-4187-bcb8-5054d9fbdac3 g.chr8:41792157G>A uc010lxb.3 - 17 4125 c.3581C>T c.(3580-3582)tCc>tTc p.S1194F KAT6A_uc010lxc.3_Missense_Mutation_p.S1194F|KAT6A_uc003xon.4_Missense_Mutation_p.S1194F NM_001099412 NP_006757 Q92794 MYST3_HUMAN Homo sapiens K(lysine) acetyltransferase 6A (KAT6A), transcript variant 1, mRNA. 1194 histone H3 acetylation|myeloid cell differentiation|negative regulation of transcription, DNA-dependent|nucleosome assembly|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent MOZ/MORF histone acetyltransferase complex|nucleosome DNA binding|histone acetyltransferase activity|transcription coactivator activity|transcription factor binding|zinc ion binding TTTAGGAATGGAAACGATGGG 0.483000 87 47 0 0 0.000781405 0 0 TLR3 7098 broad.mit.edu 37 4 187005261 187005261 + Silent SNP C T T TCGA-EE-A3AC-06A-11D-A196-08 TCGA-EE-A3AC-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 883d623b-c427-4444-9ee3-66d18648130f f8f00311-8db5-4187-bcb8-5054d9fbdac3 g.chr4:187005261C>T uc003iyq.3 + 3 2522 c.2421C>T c.(2419-2421)atC>atT p.I807I TLR3_uc011ckz.2_Silent_p.I530I|TLR3_uc003iyr.3_Silent_p.I530I NM_003265 NP_003256 O15455 TLR3_HUMAN Homo sapiens toll-like receptor 3 (TLR3), mRNA. 807 TIR. I-kappaB phosphorylation|MyD88-independent toll-like receptor signaling pathway|activation of NF-kappaB-inducing kinase activity|cellular response to mechanical stimulus|defense response to bacterium|defense response to virus|detection of virus|hyperosmotic response|inflammatory response|innate immune response|negative regulation of osteoclast differentiation|positive regulation of NF-kappaB import into nucleus|positive regulation of chemokine production|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-12 production|positive regulation of interleukin-6 production|positive regulation of interleukin-8 production|positive regulation of toll-like receptor signaling pathway|positive regulation of transcription from RNA polymerase II promoter|positive regulation of tumor necrosis factor production|toll-like receptor 3 signaling pathway endoplasmic reticulum membrane|endosome membrane|integral to plasma membrane double-stranded RNA binding|transmembrane receptor activity p.S806G(1) breast(1)|endometrium(5)|large_intestine(8)|lung(8)|ovary(2)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1) 29 all_cancers(14;4.27e-52)|all_epithelial(14;7.69e-39)|all_lung(41;1.34e-13)|Lung NSC(41;3.58e-13)|Melanoma(20;1.91e-06)|Colorectal(36;0.0066)|Hepatocellular(41;0.00886)|Renal(120;0.00988)|Prostate(90;0.00996)|all_hematologic(60;0.014)|all_neural(102;0.243) OV - Ovarian serous cystadenocarcinoma(60;1.47e-11)|BRCA - Breast invasive adenocarcinoma(30;1.14e-05)|GBM - Glioblastoma multiforme(59;0.000107)|STAD - Stomach adenocarcinoma(60;0.000279)|LUSC - Lung squamous cell carcinoma(40;0.00902)|READ - Rectum adenocarcinoma(43;0.16) TTAACAGCATCAAAAGAAGCA 0.333000 61 28 0 0 0.000878237 0 0 ZNF2 7549 broad.mit.edu 37 2 95847396 95847396 + Silent SNP C A A TCGA-EE-A3AC-06A-11D-A196-08 TCGA-EE-A3AC-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 883d623b-c427-4444-9ee3-66d18648130f f8f00311-8db5-4187-bcb8-5054d9fbdac3 g.chr2:95847396C>A uc002suf.3 + 4 1285 c.823C>A c.(823-825)Cga>Aga p.R275R ZNF2_uc002sug.3_Silent_p.R233R|ZNF2_uc010yue.2_Silent_p.R237R|ZNF2_uc010fhs.3_Silent_p.R195R NM_021088 NP_066574 Q9BSG1 ZNF2_HUMAN Homo sapiens zinc finger protein 2 (ZNF2), transcript variant 1, mRNA. 274 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding p.R275Q(1) endometrium(4)|large_intestine(4)|lung(3)|upper_aerodigestive_tract(1) 12 Ovarian(717;0.00768) READ - Rectum adenocarcinoma(193;0.0222) ATCCCTTACTCGACACCAGAG 0.458000 76 5 0.00116845 0.00528496 0.00116845 1 0 THBD 7056 broad.mit.edu 37 20 23028577 23028577 + Missense_Mutation SNP G A A TCGA-EE-A3AC-06A-11D-A196-08 TCGA-EE-A3AC-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 883d623b-c427-4444-9ee3-66d18648130f f8f00311-8db5-4187-bcb8-5054d9fbdac3 g.chr20:23028577G>A uc002wss.3 - 0 1725 c.1565C>T c.(1564-1566)tCc>tTc p.S522F THBD_uc002wst.1_Non-coding_Transcript NM_000361 NP_000352 P07204 TRBM_HUMAN Homo sapiens thrombomodulin (THBD), mRNA. 522 blood coagulation|leukocyte migration|negative regulation of fibrinolysis|negative regulation of platelet activation cell surface|integral to plasma membrane calcium ion binding|protein binding|transmembrane receptor activity endometrium(2)|large_intestine(3)|ovary(1)|skin(1) 7 Colorectal(13;0.0518)|Lung NSC(19;0.0542)|all_lung(19;0.118) Drotrecogin alfa(DB00055) GCTCGCGATGGAGATGCCTAT 0.692000 8 4 0 0 0.00116845 0 0 MRE11A 4361 broad.mit.edu 37 11 94204767 94204767 + Missense_Mutation SNP G A A rs143400546 byFrequency TCGA-EE-A3AC-06A-11D-A196-08 TCGA-EE-A3AC-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 883d623b-c427-4444-9ee3-66d18648130f f8f00311-8db5-4187-bcb8-5054d9fbdac3 g.chr11:94204767G>A uc009ywj.2 - 7 1147 c.827C>T c.(826-828)tCt>tTt p.S276F MRE11A_uc001peu.2_Missense_Mutation_p.S273F|MRE11A_uc001pev.2_Missense_Mutation_p.S273F P49959 MRE11_HUMAN Homo sapiens MRE11 meiotic recombination 11 homolog A (S. cerevisiae) (MRE11A), transcript variant 1, mRNA. 273 DNA duplex unwinding|double-strand break repair via homologous recombination|double-strand break repair via nonhomologous end joining|negative regulation of DNA endoreduplication|positive regulation of kinase activity|positive regulation of protein autophosphorylation|reciprocal meiotic recombination|regulation of mitotic recombination|sister chromatid cohesion|telomere maintenance via telomerase Mre11 complex|nucleoplasm 3'-5' exonuclease activity|double-stranded DNA binding|manganese ion binding|protein C-terminus binding|single-stranded DNA specific endodeoxyribonuclease activity breast(5)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(8)|lung(8)|ovary(2)|upper_aerodigestive_tract(1) 29 Acute lymphoblastic leukemia(157;2.37e-05)|all_hematologic(158;0.00824) TGGGGAAAGAGAAGTAACCAC 0.358000 Homologous recombination Ataxia-Telangiectasia-Like Disorder 27 20 0 0 0.00188189 0 0 FILIP1L 11259 broad.mit.edu 37 3 99568538 99568538 + Missense_Mutation SNP C T T TCGA-EE-A3AC-06A-11D-A196-08 TCGA-EE-A3AC-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 883d623b-c427-4444-9ee3-66d18648130f f8f00311-8db5-4187-bcb8-5054d9fbdac3 g.chr3:99568538C>T uc003dtm.3 - 4 2445 c.1982G>A c.(1981-1983)cGa>cAa p.R661Q MIR548G_uc021xbq.1_Intron|C3orf26_uc003dtk.2_Intron|C3orf26_uc003dtl.3_Intron|FILIP1L_uc003dto.3_Missense_Mutation_p.R661Q|FILIP1L_uc010hpf.3_Missense_Mutation_p.R237Q|FILIP1L_uc010hpg.3_Missense_Mutation_p.R421Q|FILIP1L_uc003dtn.3_Missense_Mutation_p.R421Q|FILIP1L_uc021xbr.1_Missense_Mutation_p.R421Q|FILIP1L_uc003dtp.1_Missense_Mutation_p.R421Q NM_182909 NP_878913 Q4L180 FIL1L_HUMAN Homo sapiens filamin A interacting protein 1-like (FILIP1L), transcript variant 1, mRNA. 661 cytoplasm|membrane|myosin complex|nucleus breast(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(13)|lung(11)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1) 35 AGCATACCTTCGTTCTAGAGT 0.373000 90 40 0 0 0.00222228 0 0 MTUS2 23281 broad.mit.edu 37 13 30062078 30062078 + Silent SNP G A A TCGA-EE-A3AC-06A-11D-A196-08 TCGA-EE-A3AC-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 883d623b-c427-4444-9ee3-66d18648130f f8f00311-8db5-4187-bcb8-5054d9fbdac3 g.chr13:30062078G>A uc001usl.4 + 8 3529 c.3471G>A c.(3469-3471)gaG>gaA p.E1157E MTUS2_uc001usm.4_Silent_p.E126E|MTUS2_uc010aau.3_Silent_p.E36E|BC027486_uc001usn.3_5'Flank NM_001033602 NP_001028774 Q5JR59 MTUS2_HUMAN Homo sapiens microtubule associated tumor suppressor candidate 2 (MTUS2), transcript variant 1, mRNA. 1147 cytoplasm|microtubule microtubule binding|protein homodimerization activity NS(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(3)|prostate(1)|skin(1) 20 CTCTCCTAGAGATGGAAAATA 0.542000 45 27 0 0 0.00058488 0 0 SRSF3 6428 broad.mit.edu 37 6 36569554 36569554 + Silent SNP C T T TCGA-EE-A3AC-06A-11D-A196-08 TCGA-EE-A3AC-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 883d623b-c427-4444-9ee3-66d18648130f f8f00311-8db5-4187-bcb8-5054d9fbdac3 g.chr6:36569554C>T uc003omj.3 + 4 621 c.450C>T c.(448-450)tcC>tcT p.S150S SRSF3_uc003omk.3_Non-coding_Transcript NM_003017 NP_003008 P84103 SRSF3_HUMAN Homo sapiens serine/arginine-rich splicing factor 3 (SRSF3), transcript variant 1, mRNA. 150 2 X approximate repeats, basic.|Arg/Ser-rich (RS domain). mRNA 3'-end processing|mRNA export from nucleus|nuclear mRNA splicing, via spliceosome|termination of RNA polymerase II transcription nucleoplasm RNA binding|nucleotide binding|protein binding p.R149R(1) haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(3)|skin(2) 7 CGTCCCGATCCTTCTCTAGGT 0.403000 71 63 0 0 0.000781405 0 0 DNAH10 196385 broad.mit.edu 37 12 124265689 124265689 + Silent SNP T G G TCGA-EE-A3AC-06A-11D-A196-08 TCGA-EE-A3AC-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 883d623b-c427-4444-9ee3-66d18648130f f8f00311-8db5-4187-bcb8-5054d9fbdac3 g.chr12:124265689T>G uc001uft.4 + 5 526 c.501T>G c.(499-501)tcT>tcG p.S167S NM_207437 NP_997320 Q8IVF4 DYH10_HUMAN Homo sapiens dynein, axonemal, heavy chain 10 (DNAH10), mRNA. 167 Stem (By similarity). S -> P (in dbSNP:rs11057353). 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) GAGTCACATCTGGAGAAGTCT 0.428000 90 44 0 0 0.000509022 0 0 NLRP13 126204 broad.mit.edu 37 19 56423734 56423734 + Silent SNP G A A TCGA-EE-A3AC-06A-11D-A196-08 TCGA-EE-A3AC-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 883d623b-c427-4444-9ee3-66d18648130f f8f00311-8db5-4187-bcb8-5054d9fbdac3 g.chr19:56423734G>A uc010ygg.2 - 4 1474 c.1449C>T c.(1447-1449)ctC>ctT p.L483L NM_176810 NP_789780 Q86W25 NAL13_HUMAN Homo sapiens NLR family, pyrin domain containing 13 (NLRP13), mRNA. 483 NACHT. ATP binding NS(2)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(13)|lung(58)|ovary(4)|pancreas(2)|prostate(2)|skin(13)|stomach(2)|urinary_tract(1) 109 Colorectal(82;3.48e-05)|Ovarian(87;0.0481)|Renal(1328;0.218) GBM - Glioblastoma multiforme(193;0.0642) CCAGACTGCAGAGGGCCCTCC 0.488000 34 26 0 0 0.000720815 0 0 TDRD6 221400 broad.mit.edu 37 6 46659356 46659356 + Missense_Mutation SNP G A A TCGA-EE-A3AC-06A-11D-A196-08 TCGA-EE-A3AC-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 883d623b-c427-4444-9ee3-66d18648130f f8f00311-8db5-4187-bcb8-5054d9fbdac3 g.chr6:46659356G>A uc003oyj.3 + 0 3745 c.3491G>A c.(3490-3492)aGa>aAa p.R1164K TDRD6_uc010jze.3_Missense_Mutation_p.R1164K NM_001010870 NP_001010870 O60522 TDRD6_HUMAN Homo sapiens tudor domain containing 6 (TDRD6), transcript variant 1, mRNA. 1164 cell differentiation|multicellular organismal development|spermatogenesis chromatoid body nucleic acid binding NS(1)|breast(9)|central_nervous_system(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(15)|lung(25)|ovary(2)|pancreas(1)|prostate(1)|skin(5)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(1) 80 Lung(136;0.192) TACAAAGATAGAATAAGAAAA 0.303000 36 28 0 0 0.00209593 0 0 AGPAT4 56895 broad.mit.edu 37 6 161587366 161587366 + Missense_Mutation SNP C T T TCGA-EE-A3AC-06A-11D-A196-08 TCGA-EE-A3AC-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 883d623b-c427-4444-9ee3-66d18648130f f8f00311-8db5-4187-bcb8-5054d9fbdac3 g.chr6:161587366C>T uc003qtr.1 - 2 489 c.262G>A c.(262-264)Gaa>Aaa p.E88K AGPAT4_uc003qts.1_Intron|AGPAT4_uc011egb.1_Intron|AGPAT4_uc003qtt.1_Non-coding_Transcript|AGPAT4_uc011egc.1_Missense_Mutation_p.E88K|AGPAT4_uc011egd.1_Missense_Mutation_p.E26K|AGPAT4_uc011ege.1_Intron NM_020133 NP_064518 Q9NRZ5 PLCD_HUMAN Homo sapiens 1-acylglycerol-3-phosphate O-acyltransferase 4 (lysophosphatidic acid acyltransferase, delta) (AGPAT4), mRNA. 88 phospholipid biosynthetic process integral to membrane 1-acylglycerol-3-phosphate O-acyltransferase activity|protein binding endometrium(1)|large_intestine(10)|lung(10)|ovary(2)|skin(2) 25 Breast(66;0.000289)|Ovarian(120;0.0266)|Prostate(117;0.0285) OV - Ovarian serous cystadenocarcinoma(65;2.23e-17)|BRCA - Breast invasive adenocarcinoma(81;3.58e-05) ATGGCATTTTCCTTCCCATAC 0.537000 9 20 0 0 0.00152264 0 0 SEC24C 9632 broad.mit.edu 37 10 75530142 75530142 + Silent SNP C T T TCGA-EE-A3AC-06A-11D-A196-08 TCGA-EE-A3AC-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 883d623b-c427-4444-9ee3-66d18648130f f8f00311-8db5-4187-bcb8-5054d9fbdac3 g.chr10:75530142C>T uc001juw.3 + 21 3147 c.2967C>T c.(2965-2967)ctC>ctT p.L989L SEC24C_uc001jux.3_Silent_p.L989L|SEC24C_uc010qko.2_Silent_p.L870L|SEC24C_uc010qkp.2_Silent_p.L237L|SEC24C_uc010qkq.2_Silent_p.L237L|FUT11_uc001juy.1_5'Flank|FUT11_uc001juz.1_5'Flank|FUT11_uc001jva.3_5'Flank NM_004922 NP_940999 P53992 SC24C_HUMAN Homo sapiens SEC24 family, member C (S. cerevisiae) (SEC24C), transcript variant 1, mRNA. 989 COPII vesicle coating|intracellular protein transport|post-translational protein modification|protein N-linked glycosylation via asparagine COPII vesicle coat|Golgi membrane|cytosol|endoplasmic reticulum membrane|perinuclear region of cytoplasm protein binding|zinc ion binding breast(2)|central_nervous_system(1)|endometrium(6)|kidney(2)|large_intestine(3)|lung(12)|skin(4)|stomach(1)|upper_aerodigestive_tract(1) 32 Prostate(51;0.0112) GGCTCAACCTCTTCCTCTGGG 0.532000 189 109 0 0 0.000781405 0 0 MECOM 2122 broad.mit.edu 37 3 168806893 168806893 + Silent SNP C T T rs66665001 TCGA-EE-A3AC-06A-11D-A196-08 TCGA-EE-A3AC-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 883d623b-c427-4444-9ee3-66d18648130f f8f00311-8db5-4187-bcb8-5054d9fbdac3 g.chr3:168806893C>T uc011bpj.1 - 15 3883 c.3480G>A c.(3478-3480)agG>agA p.R1160R MECOM_uc010hwk.1_Silent_p.R986R|MECOM_uc003ffj.3_Silent_p.R1037R|MECOM_uc003ffi.3_Silent_p.R972R|MECOM_uc011bpi.1_Silent_p.R964R|MECOM_uc003ffn.3_Silent_p.R972R|MECOM_uc003ffk.2_Silent_p.R963R|MECOM_uc003ffl.2_Silent_p.R1123R|MECOM_uc011bpk.1_Silent_p.R972R NM_004991 NP_004982 Q13465 MDS1_HUMAN Homo sapiens MDS1 and EVI1 complex locus (MECOM), transcript variant 4, mRNA. 0 sequence-specific DNA binding transcription factor activity NS(1)|breast(4)|central_nervous_system(1)|endometrium(9)|kidney(4)|large_intestine(13)|liver(1)|lung(28)|ovary(2)|pancreas(1)|prostate(2)|skin(12)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(4) 85 CTTCCATTTTCCTCATTTTGA 0.373000 28 17 0 0 0.00152264 0 0 OR51A2 401667 broad.mit.edu 37 11 4976492 4976492 + Missense_Mutation SNP G A A TCGA-EE-A3AC-06A-11D-A196-08 TCGA-EE-A3AC-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 883d623b-c427-4444-9ee3-66d18648130f f8f00311-8db5-4187-bcb8-5054d9fbdac3 g.chr11:4976492G>A uc010qyt.2 - 0 452 c.452C>T c.(451-453)tCc>tTc p.S151F NM_001004748 NP_001004748 Q8NGJ7 O51A2_HUMAN Homo sapiens olfactory receptor, family 51, subfamily A, member 2 (OR51A2), mRNA. 151 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity p.F150F(1) endometrium(4)|kidney(1)|large_intestine(3)|lung(5)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 17 Medulloblastoma(188;0.0075)|all_neural(188;0.0577)|Breast(177;0.086) Epithelial(150;3.22e-11)|BRCA - Breast invasive adenocarcinoma(625;0.0284)|LUSC - Lung squamous cell carcinoma(625;0.19) GCTCTTAAAGGAGAATACTAT 0.423000 24 66 0 0 0.000781405 0 0 MRPL45P2 653479 broad.mit.edu 37 17 45567659 45567659 + RNA SNP C A A TCGA-EE-A3AC-06A-11D-A196-08 TCGA-EE-A3AC-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 883d623b-c427-4444-9ee3-66d18648130f f8f00311-8db5-4187-bcb8-5054d9fbdac3 g.chr17:45567659C>A uc002ilp.2 - 2 c.408G>T MRPL45P2_uc002ilq.3_Non-coding_Transcript Homo sapiens mitochondrial ribosomal protein L45 pseudogene 2 (MRPL45P2), non-coding RNA. TCAAATATACCAGCTGTAATA 0.343000 53 5 0.000602214 0.00273746 0.000602214 1 0 ANKRD20A2 441430 broad.mit.edu 37 2 95464643 95464643 + RNA SNP C T T TCGA-EE-A3AC-06A-11D-A196-08 TCGA-EE-A3AC-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 883d623b-c427-4444-9ee3-66d18648130f f8f00311-8db5-4187-bcb8-5054d9fbdac3 g.chr2:95464643C>T uc010fhp.3 - 16 c.2747G>A Q5SQ80 A20A2_HUMAN Homo sapiens ankyrin repeat domain 20 family, member A8, pseudogene (ANKRD20A8P), non-coding RNA. large_intestine(1)|lung(1)|ovary(1)|urinary_tract(1) 4 TCAAGTTTTTCATTCCTGTTG 0.299000 15 12 0 0 0.00136819 0 0 SEC16B 89866 broad.mit.edu 37 1 177911075 177911075 + Missense_Mutation SNP C T T TCGA-EE-A3AC-06A-11D-A196-08 TCGA-EE-A3AC-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 883d623b-c427-4444-9ee3-66d18648130f f8f00311-8db5-4187-bcb8-5054d9fbdac3 g.chr1:177911075C>T uc001glj.1 - 20 2851 c.1985G>A c.(1984-1986)gGa>gAa p.G662E SEC16B_uc001glk.1_Missense_Mutation_p.G338E|SEC16B_uc009wwy.1_Missense_Mutation_p.G216E|SEC16B_uc001glh.1_Missense_Mutation_p.G320E|SEC16B_uc001gli.1_Missense_Mutation_p.G661E|SEC16B_uc009wwz.1_Missense_Mutation_p.G320E NM_033127 NP_149118 Q96JE7 SC16B_HUMAN Homo sapiens SEC16 homolog B (S. cerevisiae) (SEC16B), mRNA. 661 protein transport|vesicle-mediated transport Golgi membrane|endoplasmic reticulum membrane central_nervous_system(1)|endometrium(7)|kidney(1)|large_intestine(7)|lung(14)|ovary(3)|skin(1)|stomach(1) 35 ACTGCTCTCTCCCTGGCTCAA 0.493000 86 24 0 0 0.000586117 0 0 SSBP4 170463 broad.mit.edu 37 19 18542815 18542816 + Missense_Mutation DNP CC TT TT TCGA-EE-A3AC-06A-11D-A196-08 TCGA-EE-A3AC-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 883d623b-c427-4444-9ee3-66d18648130f f8f00311-8db5-4187-bcb8-5054d9fbdac3 g.chr19:18542815_18542816CC>TT uc002niy.3 + 8 884_885 c.571_572CC>TT c.(571-573)ccg>TTg p.P191L SSBP4_uc010ebp.3_Nonsense_Mutation_p.R168*|SSBP4_uc002niz.3_Missense_Mutation_p.P169L NM_032627 NP_116016 Q9BWG4 SSBP4_HUMAN Homo sapiens single stranded DNA binding protein 4 (SSBP4), transcript variant 1, mRNA. 191 Pro-rich. nucleus single-stranded DNA binding endometrium(2)|kidney(1)|skin(1) 4 CCCAGGGCATCCGAGCATGGGC 0.668000 14 9 0 0 6.4e-05 0 0 PSG4 5672 broad.mit.edu 37 19 43699348 43699348 + Missense_Mutation SNP C T T TCGA-EE-A3AC-06A-11D-A196-08 TCGA-EE-A3AC-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 883d623b-c427-4444-9ee3-66d18648130f f8f00311-8db5-4187-bcb8-5054d9fbdac3 g.chr19:43699348C>T uc002ovy.3 - 3 889 c.787G>A c.(787-789)Gaa>Aaa p.E263K PSG4_uc010xwk.1_Intron|PSG4_uc002ovz.3_Intron|PSG4_uc002owb.3_Missense_Mutation_p.E170K NM_002780 NP_002771 Q00888 PSG4_HUMAN Homo sapiens pregnancy specific beta-1-glycoprotein 4 (PSG4), transcript variant 1, mRNA. 263 Ig-like C2-type 2. defense response|female pregnancy extracellular region central_nervous_system(1)|endometrium(2)|large_intestine(8)|lung(10)|ovary(1)|pancreas(1)|upper_aerodigestive_tract(1) 24 Prostate(69;0.00682) CTCTTAGGTTCACAGGTGAAG 0.453000 131 62 0 0 0.000781405 0 0 DPY19L1 23333 broad.mit.edu 37 7 35013200 35013200 + Nonsense_Mutation SNP C T T TCGA-EE-A3AC-06A-11D-A196-08 TCGA-EE-A3AC-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 883d623b-c427-4444-9ee3-66d18648130f f8f00311-8db5-4187-bcb8-5054d9fbdac3 g.chr7:35013200C>T uc003tem.4 - 7 766 c.621G>A c.(619-621)tgG>tgA p.W207* NM_015283 NP_056098 Q2PZI1 D19L1_HUMAN Homo sapiens dpy-19-like 1 (C. elegans) (DPY19L1), mRNA. 207 integral to membrane endometrium(3)|kidney(5)|large_intestine(8)|lung(8)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(4) 31 GAGGTGGTGTCCACATTACAC 0.313000 14 10 0 0 0.00185496 0 0 abParts 0 broad.mit.edu 37 2 89513355 89513355 + Splice_Site SNP G A A TCGA-EE-A3AC-06A-11D-A196-08 TCGA-EE-A3AC-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 883d623b-c427-4444-9ee3-66d18648130f f8f00311-8db5-4187-bcb8-5054d9fbdac3 g.chr2:89513355G>A uc021vkt.1 - 26 c.2726_splice c.e26-1 abParts_uc021vku.1_Intron Parts of antibodies, mostly variable regions. AGGAGTCCCAGGAGCTGAGCA 0.507000 29 18 0 0 0.00152264 0 0 TRO 7216 broad.mit.edu 37 X 54955515 54955515 + Silent SNP C T T TCGA-EE-A3AC-06A-11D-A196-08 TCGA-EE-A3AC-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 883d623b-c427-4444-9ee3-66d18648130f f8f00311-8db5-4187-bcb8-5054d9fbdac3 g.chrX:54955515C>T uc004dtq.3 + 11 2465 c.2358C>T c.(2356-2358)agC>agT p.S786S TRO_uc004dts.3_Intron|TRO_uc004dtr.3_Intron|TRO_uc004dtt.3_Intron|TRO_uc004dtu.3_Intron|TRO_uc004dtv.3_Intron|TRO_uc011mok.2_Silent_p.S317S|TRO_uc004dtw.3_Silent_p.S389S|TRO_uc004dtx.3_Silent_p.S169S NM_001039705 NP_001034794 Q12816 TROP_HUMAN Homo sapiens trophinin (TRO), transcript variant 6, mRNA. 786 62 X 10 AA approximate tandem repeats. embryo implantation|homophilic cell adhesion integral to plasma membrane breast(1)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(5)|lung(19)|ovary(2)|skin(2)|urinary_tract(1) 37 CTAGCTCCAGCTTCAGCAGCG 0.532000 9 27 0 0 0.00106085 0 0 PTPN5 84867 broad.mit.edu 37 11 18765740 18765740 + Missense_Mutation SNP G A A TCGA-EE-A3AC-06A-11D-A196-08 TCGA-EE-A3AC-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 883d623b-c427-4444-9ee3-66d18648130f f8f00311-8db5-4187-bcb8-5054d9fbdac3 g.chr11:18765740G>A uc001mpd.3 - 3 535 c.104C>T c.(103-105)cCc>cTc p.P35L PTPN5_uc001mpb.3_Missense_Mutation_p.P35L|PTPN5_uc001mpc.3_Missense_Mutation_p.P35L|PTPN5_uc010rdj.2_Missense_Mutation_p.P11L|PTPN5_uc001mpf.3_Missense_Mutation_p.P11L|PTPN5_uc001mpe.3_Missense_Mutation_p.P35L|PTPN5_uc010rdk.2_Intron NM_006906 NP_116170 P54829 PTN5_HUMAN Homo sapiens protein tyrosine phosphatase, non-receptor type 5 (striatum-enriched) (PTPN5), transcript variant 1, mRNA. 35 integral to membrane phosphotyrosine binding|protein tyrosine phosphatase activity breast(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(13)|ovary(2)|prostate(1)|skin(4) 27 TATCGGCTGGGGGAGACCTGT 0.657000 59 28 0 0 0.00106085 0 0 DNAH5 1767 broad.mit.edu 37 5 13793641 13793641 + Missense_Mutation SNP G A A TCGA-EE-A3AC-06A-11D-A196-08 TCGA-EE-A3AC-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 883d623b-c427-4444-9ee3-66d18648130f f8f00311-8db5-4187-bcb8-5054d9fbdac3 g.chr5:13793641G>A uc003jfd.2 - 48 8249 c.8207C>T c.(8206-8208)tCt>tTt p.S2736F NM_001369 NP_001360 Q8TE73 DYH5_HUMAN Homo sapiens dynein, axonemal, heavy chain 5 (DNAH5), mRNA. 2736 AAA 3 (By similarity). microtubule-based movement cilium axoneme|cytoplasm|microtubule ATP binding|ATPase activity|microtubule motor activity NS(6)|breast(14)|central_nervous_system(4)|cervix(2)|endometrium(23)|haematopoietic_and_lymphoid_tissue(8)|kidney(11)|large_intestine(85)|liver(1)|lung(129)|ovary(16)|pancreas(2)|prostate(5)|skin(48)|stomach(5)|upper_aerodigestive_tract(11)|urinary_tract(8) 378 Lung NSC(4;0.00476) CTTGTCCACAGAAGCTTCAGA 0.483000 Kartagener syndrome 34 28 0 0 0.00209593 0 0 TCEB3B 51224 broad.mit.edu 37 18 44560939 44560939 + Missense_Mutation SNP C T T TCGA-EE-A3AC-06A-11D-A196-08 TCGA-EE-A3AC-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 883d623b-c427-4444-9ee3-66d18648130f f8f00311-8db5-4187-bcb8-5054d9fbdac3 g.chr18:44560939C>T uc002lcr.1 - 0 1050 c.697G>A c.(697-699)Gaa>Aaa p.E233K KATNAL2_uc010dnq.1_Intron|KATNAL2_uc002lco.3_Intron NM_016427 NP_057511 Q8IYF1 ELOA2_HUMAN Homo sapiens transcription elongation factor B polypeptide 3B (elongin A2) (TCEB3B), mRNA. 233 regulation of transcription elongation, DNA-dependent|transcription from RNA polymerase II promoter integral to membrane|nucleus DNA binding breast(1)|cervix(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(15)|lung(24)|ovary(2)|pancreas(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 58 GGGCGTTTTTCCTGGCGAGAC 0.617000 10 8 0 0 0.000157383 0 0 PPP2R2C 5522 broad.mit.edu 37 4 6377625 6377625 + Missense_Mutation SNP C T T TCGA-EE-A3AC-06A-11D-A196-08 TCGA-EE-A3AC-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 883d623b-c427-4444-9ee3-66d18648130f f8f00311-8db5-4187-bcb8-5054d9fbdac3 g.chr4:6377625C>T uc003gja.3 - 3 392 c.368G>A c.(367-369)cGa>cAa p.R123Q PPP2R2C_uc003gjb.3_Missense_Mutation_p.R106Q|PPP2R2C_uc003gjc.3_Missense_Mutation_p.R123Q|PPP2R2C_uc011bwd.2_Missense_Mutation_p.R116Q|PPP2R2C_uc011bwe.2_Missense_Mutation_p.R116Q|PPP2R2C_uc003gjd.1_Missense_Mutation_p.R211Q NM_181876 NP_870991 Q9Y2T4 2ABG_HUMAN Homo sapiens protein phosphatase 2, regulatory subunit B, gamma (PPP2R2C), transcript variant 2, mRNA. 123 signal transduction protein phosphatase type 2A complex protein phosphatase type 2A regulator activity central_nervous_system(2)|endometrium(2)|kidney(2)|large_intestine(7)|lung(7)|ovary(2)|prostate(2)|skin(3)|urinary_tract(1) 28 CCTTTTATCTCGTTCGGTAAT 0.443000 61 49 0 0 0.000781405 0 0 DCC 1630 broad.mit.edu 37 18 50866115 50866115 + Missense_Mutation SNP C T T TCGA-EE-A3AC-06A-11D-A196-08 TCGA-EE-A3AC-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 883d623b-c427-4444-9ee3-66d18648130f f8f00311-8db5-4187-bcb8-5054d9fbdac3 g.chr18:50866115C>T uc002lfe.2 + 14 2813 c.2197C>T c.(2197-2199)Cat>Tat p.H733Y DCC_uc010xdr.1_Missense_Mutation_p.H581Y|DCC_uc010dpf.2_Missense_Mutation_p.H388Y NM_005215 NP_005206 P43146 DCC_HUMAN Homo sapiens deleted in colorectal carcinoma (DCC), mRNA. 733 Fibronectin type-III 4. apoptosis|induction of apoptosis|negative regulation of collateral sprouting|negative regulation of dendrite development cytosol|integral to membrane NS(3)|breast(2)|central_nervous_system(1)|cervix(2)|endometrium(13)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(23)|liver(1)|lung(56)|ovary(7)|pancreas(3)|prostate(2)|skin(16)|stomach(2)|upper_aerodigestive_tract(4)|urinary_tract(6) 148 all_cancers(7;0.11)|all_epithelial(6;0.00126) Colorectal(16;0.0251)|COAD - Colon adenocarcinoma(17;0.0942) AAGCTCTCTTCATGTGAGGCC 0.458000 27 21 0 0 0.00047179 0 0 DSP 1832 broad.mit.edu 37 6 7580074 7580074 + Silent SNP G A A TCGA-EE-A3AC-06A-11D-A196-08 TCGA-EE-A3AC-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 883d623b-c427-4444-9ee3-66d18648130f f8f00311-8db5-4187-bcb8-5054d9fbdac3 g.chr6:7580074G>A uc003mxp.1 + 22 3930 c.3651G>A c.(3649-3651)acG>acA p.T1217T DSP_uc003mxq.1_Intron|DSP_uc021yle.1_Silent_p.T1217T NM_004415 NP_004406 P15924 DESP_HUMAN Homo sapiens desmoplakin (DSP), transcript variant 1, mRNA. 1217 Central fibrous rod domain. cellular component disassembly involved in apoptosis|keratinocyte differentiation|peptide cross-linking cornified envelope|cytoplasm|desmosome protein binding, bridging|structural constituent of cytoskeleton biliary_tract(1)|breast(6)|central_nervous_system(7)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(16)|liver(2)|lung(27)|ovary(4)|prostate(1)|skin(8)|stomach(3)|upper_aerodigestive_tract(7)|urinary_tract(5) 101 Ovarian(93;0.0584) all_hematologic(90;0.236) OV - Ovarian serous cystadenocarcinoma(45;0.000508) TTAACATTACGAAGACCACCA 0.368000 33 21 0 0 0.00229938 0 0 DOPEY2 9980 broad.mit.edu 37 21 37665782 37665783 + Missense_Mutation DNP GG AA AA rs139219621 byFrequency TCGA-EE-A3AC-06A-11D-A196-08 TCGA-EE-A3AC-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 883d623b-c427-4444-9ee3-66d18648130f f8f00311-8db5-4187-bcb8-5054d9fbdac3 g.chr21:37665782_37665783GG>AA uc002yvg.3 + 36 6889_6890 c.6810_6811GG>AA c.(6808-6813)ttggac>ttAAac p.D2271N DOPEY2_uc011aeb.2_Missense_Mutation_p.D2220N NM_005128 NP_005119 Q9Y3R5 DOP2_HUMAN Homo sapiens dopey family member 2 (DOPEY2), mRNA. 2271 Golgi to endosome transport|endoplasmic reticulum organization|multicellular organismal development|protein transport Golgi membrane autonomic_ganglia(1)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(5)|kidney(5)|large_intestine(6)|lung(25)|ovary(2)|prostate(3)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 58 CTCCATTCTTGGACTTTCCTGT 0.436000 61 25 0 0 6.4e-05 0 0 SYT15 83849 broad.mit.edu 37 10 46967612 46967612 + Silent SNP C T T TCGA-EE-A3AC-06A-11D-A196-08 TCGA-EE-A3AC-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 883d623b-c427-4444-9ee3-66d18648130f f8f00311-8db5-4187-bcb8-5054d9fbdac3 g.chr10:46967612C>T uc001jea.3 - 3 618 c.465G>A c.(463-465)gtG>gtA p.V155V SYT15_uc001jdz.2_Silent_p.V155V|SYT15_uc001jeb.3_Silent_p.V33V|SYT15_uc010qfp.1_Non-coding_Transcript NM_031912 NP_114118 Q9BQS2 SYT15_HUMAN Homo sapiens synaptotagmin XV (SYT15), transcript variant a, mRNA. 155 C2 1. integral to membrane|plasma membrane p.P155S(1) cervix(1)|endometrium(5)|kidney(2)|lung(5) 13 GCTCATATTCCACCGAGAACC 0.627000 43 11 0 0 0.000673444 0 0 DENND1A 57706 broad.mit.edu 37 9 126520093 126520093 + Missense_Mutation SNP A G G TCGA-EE-A3AC-06A-11D-A196-08 TCGA-EE-A3AC-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 883d623b-c427-4444-9ee3-66d18648130f f8f00311-8db5-4187-bcb8-5054d9fbdac3 g.chr9:126520093A>G uc011lzm.1 - 2 309 c.95T>C c.(94-96)gTt>gCt p.V32A DENND1A_uc004bny.1_5'UTR|DENND1A_uc004bnz.1_Missense_Mutation_p.V64A|DENND1A_uc004boa.1_Missense_Mutation_p.V64A|DENND1A_uc004bob.1_Missense_Mutation_p.V34A|DENND1A_uc004boc.3_Missense_Mutation_p.V32A NM_020946 NP_065997 Q8TEH3 DEN1A_HUMAN Homo sapiens DENN/MADD domain containing 1A (DENND1A), transcript variant 1, mRNA. 64 UDENN. cell junction|clathrin coated vesicle membrane|presynaptic membrane guanyl-nucleotide exchange factor activity breast(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(12)|liver(2)|lung(18)|ovary(2)|prostate(1)|skin(1)|stomach(1) 43 AACTTGGCTAACTGTGAGGCT 0.438000 25 6 0 0 0.000274275 0 0 NAB2 4665 broad.mit.edu 37 12 57485290 57485290 + Missense_Mutation SNP C A A TCGA-EE-A3AC-06A-11D-A196-08 TCGA-EE-A3AC-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 883d623b-c427-4444-9ee3-66d18648130f f8f00311-8db5-4187-bcb8-5054d9fbdac3 g.chr12:57485290C>A uc001smz.3 + 1 844 c.466C>A c.(466-468)Cgc>Agc p.R156S NM_005967 NP_005958 Q15742 NAB2_HUMAN Homo sapiens NGFI-A binding protein 2 (EGR1 binding protein 2) (NAB2), mRNA. 156 cell proliferation|negative regulation of transcription from RNA polymerase III promoter|transcription, DNA-dependent nucleus transcription corepressor activity p.R156R(1) breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(6)|lung(5)|ovary(1)|prostate(2)|stomach(1)|upper_aerodigestive_tract(1) 20 AGGCAGTGCCCGCAGTTTTAG 0.632000 40 6 0.00198382 0.00892858 0.00198382 1 0 CYP4F12 66002 broad.mit.edu 37 19 15807031 15807031 + Missense_Mutation SNP C T T TCGA-EE-A3AC-06A-11D-A196-08 TCGA-EE-A3AC-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 883d623b-c427-4444-9ee3-66d18648130f f8f00311-8db5-4187-bcb8-5054d9fbdac3 g.chr19:15807031C>T uc002nbl.3 + 10 1429 c.1310C>T c.(1309-1311)cCt>cTt p.P437L NM_023944 NP_076433 Homo sapiens cytochrome P450, family 4, subfamily F, polypeptide 12 (CYP4F12), mRNA. NS(1)|central_nervous_system(3)|endometrium(4)|kidney(2)|large_intestine(7)|lung(12)|ovary(3)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(2) 41 Acute lymphoblastic leukemia(2;0.0367) TGGCCGGATCCTGAGGTGCTG 0.547000 31 23 0 0 0.000720815 0 0 KCNH7 90134 broad.mit.edu 37 2 163236418 163236418 + Missense_Mutation SNP G A A TCGA-EE-A3AC-06A-11D-A196-08 TCGA-EE-A3AC-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 883d623b-c427-4444-9ee3-66d18648130f f8f00311-8db5-4187-bcb8-5054d9fbdac3 g.chr2:163236418G>A uc002uch.2 - 13 3305 c.3076C>T c.(3076-3078)Ctc>Ttc p.L1026F NM_033272 NP_150375 Q9NS40 KCNH7_HUMAN Homo sapiens potassium voltage-gated channel, subfamily H (eag-related), member 7 (KCNH7), transcript variant 1, mRNA. 1026 regulation of transcription, DNA-dependent integral to membrane protein binding|signal transducer activity p.D1025H(1) NS(1)|biliary_tract(1)|breast(4)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(22)|lung(53)|ovary(3)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(3) 108 Ibutilide(DB00308) CCGTAGGTGAGGTCGCTTTCG 0.512000 50 30 0 0 0.0024448 0 0 CDH23 64072 broad.mit.edu 37 10 73551085 73551085 + Silent SNP C T T TCGA-EE-A3AC-06A-11D-A196-08 TCGA-EE-A3AC-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 883d623b-c427-4444-9ee3-66d18648130f f8f00311-8db5-4187-bcb8-5054d9fbdac3 g.chr10:73551085C>T uc001jrx.4 + 44 6627 c.6237C>T c.(6235-6237)tgC>tgT p.C2079C NM_022124 NP_071407 Q9H251 CAD23_HUMAN Homo sapiens cadherin-related 23 (CDH23), transcript variant 1, mRNA. 2082 Cadherin 20. calcium ion transport|calcium-dependent cell-cell adhesion|cytosolic calcium ion homeostasis|equilibrioception|homophilic cell adhesion|photoreceptor cell maintenance|response to stimulus|sensory perception of sound cytosol|integral to membrane|plasma membrane|stereocilium calcium ion binding|protein binding NS(1)|breast(2)|central_nervous_system(6)|endometrium(15)|haematopoietic_and_lymphoid_tissue(5)|kidney(7)|large_intestine(27)|lung(49)|ovary(3)|pancreas(1)|prostate(7)|stomach(7)|upper_aerodigestive_tract(3) 133 TAGAGAACTGCCCGCCTGGTA 0.622000 4 10 0 0 0.000978159 0 0 UBTF 7343 broad.mit.edu 37 17 42288974 42288974 + Splice_Site SNP C T T TCGA-EE-A3AC-06A-11D-A196-08 TCGA-EE-A3AC-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 883d623b-c427-4444-9ee3-66d18648130f f8f00311-8db5-4187-bcb8-5054d9fbdac3 g.chr17:42288974C>T uc010czs.3 - 10 1343 c.1047_splice c.e10+1 p.Q349_splice UBTF_uc002igc.3_Splice_Site_p.Q312_splice|UBTF_uc002igd.3_Splice_Site_p.Q312_splice|UBTF_uc010czt.3_Splice_Site_p.Q349_splice|UBTF_uc002ige.2_Splice_Site_p.Q312_splice NM_014233 NP_055048 P17480 UBF1_HUMAN Homo sapiens upstream binding transcription factor, RNA polymerase I (UBTF), transcript variant 1, mRNA. 349 positive regulation of transcription from RNA polymerase I promoter|termination of RNA polymerase I transcription|transcription elongation from RNA polymerase I promoter|transcription initiation from RNA polymerase I promoter nucleolus|nucleoplasm DNA binding|protein binding breast(1)|central_nervous_system(2)|endometrium(1)|large_intestine(9)|lung(10)|ovary(1)|prostate(3)|upper_aerodigestive_tract(1)|urinary_tract(1) 29 Breast(137;0.00765)|Prostate(33;0.0181) BRCA - Breast invasive adenocarcinoma(366;0.114) CACAGCTCACCTGATCACACT 0.597000 135 55 0 0 0.000781405 0 0 EPHA7 2045 broad.mit.edu 37 6 93968003 93968003 + Splice_Site SNP C T T TCGA-EE-A3AC-06A-11D-A196-08 TCGA-EE-A3AC-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 883d623b-c427-4444-9ee3-66d18648130f f8f00311-8db5-4187-bcb8-5054d9fbdac3 g.chr6:93968003C>T uc003poe.3 - 11 2166 c.1925_splice c.e11-1 p.G642_splice EPHA7_uc003pof.3_Splice_Site_p.G637_splice|EPHA7_uc011eac.2_Splice_Site_p.G638_splice NM_004440 NP_004431 Q15375 EPHA7_HUMAN Homo sapiens EPH receptor A7 (EPHA7), mRNA. 642 Protein kinase. integral to plasma membrane ATP binding|ephrin receptor activity NS(1)|breast(1)|central_nervous_system(7)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(16)|lung(43)|ovary(8)|pancreas(1)|prostate(1)|skin(8)|stomach(1)|upper_aerodigestive_tract(13)|urinary_tract(1) 112 all_cancers(76;7.47e-10)|Acute lymphoblastic leukemia(125;1.88e-09)|all_hematologic(75;1.75e-07)|all_epithelial(107;3.6e-05)|Lung NSC(302;0.0368)|all_lung(197;0.0509)|Colorectal(196;0.142) BRCA - Breast invasive adenocarcinoma(108;0.0847) CCGAATTCTCCTGAAGTAACA 0.333000 21 34 0 0 0.00195071 0 0 BAZ2A 11176 broad.mit.edu 37 12 56998871 56998871 + Missense_Mutation SNP G C C TCGA-EE-A3AC-06A-11D-A196-08 TCGA-EE-A3AC-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 883d623b-c427-4444-9ee3-66d18648130f f8f00311-8db5-4187-bcb8-5054d9fbdac3 g.chr12:56998871G>C uc001slq.1 - 13 2934 c.2740C>G c.(2740-2742)Ccc>Gcc p.P914A BAZ2A_uc001slp.1_Missense_Mutation_p.P912A|BAZ2A_uc001slo.1_5'Flank|BAZ2A_uc009zov.1_5'Flank|BAZ2A_uc009zow.1_Missense_Mutation_p.P882A NM_013449 NP_038477 Q9UIF9 BAZ2A_HUMAN Homo sapiens bromodomain adjacent to zinc finger domain, 2A (BAZ2A), mRNA. 914 DNA methylation|chromatin silencing at rDNA|transcription, DNA-dependent chromatin silencing complex|nucleolus|rDNA heterochromatin DNA binding|RNA binding|histone acetyl-lysine binding|ligand-dependent nuclear receptor binding|zinc ion binding breast(1)|cervix(3)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|lung(15)|urinary_tract(1) 31 CAGTAGGAGGGAAAGCCAGGA 0.502000 33 12 0 0 0.000978159 0 0 RSRC1 51319 broad.mit.edu 37 3 158261214 158261214 + Missense_Mutation SNP G A A rs144776555 TCGA-EE-A3AC-06A-11D-A196-08 TCGA-EE-A3AC-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 883d623b-c427-4444-9ee3-66d18648130f f8f00311-8db5-4187-bcb8-5054d9fbdac3 g.chr3:158261214G>A uc003fbt.3 + 8 961 c.850G>A c.(850-852)Gat>Aat p.D284N RSRC1_uc003fbv.3_Missense_Mutation_p.D226N NM_016625 NP_057709 Q96IZ7 RSRC1_HUMAN Homo sapiens arginine/serine-rich coiled-coil 1 (RSRC1), mRNA. 284 nucleocytoplasmic transport cytoplasm|nuclear speck protein binding p.D284N(2) cervix(1)|endometrium(2)|large_intestine(3)|lung(11)|upper_aerodigestive_tract(1) 18 Lung(72;0.00416)|LUSC - Lung squamous cell carcinoma(72;0.00575) AAAAGAAATAGATCCTACCAG 0.418000 32 32 0 0 0.0024448 0 0 FOLR4 390243 broad.mit.edu 37 11 94040783 94040783 + Silent SNP C T T TCGA-EE-A3AC-06A-11D-A196-08 TCGA-EE-A3AC-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 883d623b-c427-4444-9ee3-66d18648130f f8f00311-8db5-4187-bcb8-5054d9fbdac3 g.chr11:94040783C>T uc021qou.1 + 3 678 c.678C>T c.(676-678)ttC>ttT p.F226F NM_001199206 NP_001186135 A6ND01 FOLR4_HUMAN Homo sapiens folate receptor 4 (delta) homolog (mouse) (FOLR4), mRNA. 226 extracellular region folic acid binding|receptor activity p.F220fs*>22(1) breast(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(4)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1) 14 CCCGCCTCTTCGCCAGCTCTG 0.602000 105 72 0 0 0.000781405 0 0 DYTN 391475 broad.mit.edu 37 2 207530603 207530603 + Silent SNP C T T TCGA-EE-A3AC-06A-11D-A196-08 TCGA-EE-A3AC-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 883d623b-c427-4444-9ee3-66d18648130f f8f00311-8db5-4187-bcb8-5054d9fbdac3 g.chr2:207530603C>T uc002vbr.1 - 9 1248 c.1131G>A c.(1129-1131)cgG>cgA p.R377R NM_001093730 NP_001087199 A2CJ06 DYTN_HUMAN Homo sapiens dystrotelin (DYTN), mRNA. 377 plasma membrane zinc ion binding breast(2)|central_nervous_system(1)|endometrium(1)|large_intestine(6)|lung(24)|ovary(1)|upper_aerodigestive_tract(1) 36 LUSC - Lung squamous cell carcinoma(261;0.082)|Epithelial(149;0.129)|Lung(261;0.153) CCTGTAGGTCCCGTCTTATCT 0.463000 30 9 0 0 0.000673444 0 0 MFSD2A 84879 broad.mit.edu 37 1 40434365 40434365 + Missense_Mutation SNP C T T TCGA-EE-A3AC-06A-11D-A196-08 TCGA-EE-A3AC-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 883d623b-c427-4444-9ee3-66d18648130f f8f00311-8db5-4187-bcb8-5054d9fbdac3 g.chr1:40434365C>T uc001cev.3 + 12 1697 c.1516C>T c.(1516-1518)Ccc>Tcc p.P506S MFSD2A_uc010ojb.1_Missense_Mutation_p.P454S|MFSD2A_uc001ceu.3_Missense_Mutation_p.P493S|MFSD2A_uc010ojc.2_Missense_Mutation_p.P337S|MFSD2A_uc009vvy.3_Non-coding_Transcript NM_001136493 NP_001129965 Q8NA29 MFS2A_HUMAN Homo sapiens major facilitator superfamily domain containing 2A (MFSD2A), transcript variant 1, mRNA. 506 transmembrane transport endoplasmic reticulum membrane|integral to membrane breast(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(3)|lung(6)|ovary(2)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2) 24 CAAAATGTACCCCATTGATGA 0.577000 44 36 0 0 0.00148497 0 0 MCM3AP 8888 broad.mit.edu 37 21 47656757 47656757 + Missense_Mutation SNP T C C TCGA-EE-A3AC-06A-11D-A196-08 TCGA-EE-A3AC-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 883d623b-c427-4444-9ee3-66d18648130f f8f00311-8db5-4187-bcb8-5054d9fbdac3 g.chr21:47656757T>C uc002zir.1 - 26 5806 c.5770A>G c.(5770-5772)Act>Gct p.T1924A MCM3AP-AS1_uc002zim.2_Intron|MCM3AP-AS1_uc002zin.2_Intron|MCM3AP_uc002zio.1_Missense_Mutation_p.T419A|MCM3AP_uc002zip.1_Missense_Mutation_p.T665A|MCM3AP_uc002ziq.1_Missense_Mutation_p.T851A|MCM3AP-AS1_uc002zis.1_Intron NM_003906 NP_003897 O60318 MCM3A_HUMAN Homo sapiens minichromosome maintenance complex component 3 associated protein (MCM3AP), mRNA. 1924 DNA replication|protein import into nucleus cytosol|nucleus DNA binding|nucleotide binding NS(1)|breast(2)|central_nervous_system(1)|endometrium(10)|kidney(5)|large_intestine(17)|lung(24)|ovary(4)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(2) 72 Breast(49;0.112) GGGCTAGTAGTTACAGATGTT 0.388000 72 67 0 0 0.000781405 0 0 DDX10 1662 broad.mit.edu 37 11 108549097 108549097 + Missense_Mutation SNP C T T TCGA-EE-A3AC-06A-11D-A196-08 TCGA-EE-A3AC-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 883d623b-c427-4444-9ee3-66d18648130f f8f00311-8db5-4187-bcb8-5054d9fbdac3 g.chr11:108549097C>T uc001pkm.3 + 4 658 c.593C>T c.(592-594)cCa>cTa p.P198L DDX10_uc001pkl.1_Missense_Mutation_p.P198L NM_004398 NP_004389 Q13206 DDX10_HUMAN Homo sapiens DEAD (Asp-Glu-Ala-Asp) box polypeptide 10 (DDX10), mRNA. 198 Helicase ATP-binding. ATP binding|ATP-dependent helicase activity|RNA binding|RNA helicase activity breast(2)|endometrium(5)|kidney(2)|large_intestine(4)|lung(11)|pancreas(1)|prostate(2) 27 all_cancers(61;1.29e-11)|all_epithelial(67;2.96e-07)|Melanoma(852;1.54e-05)|Acute lymphoblastic leukemia(157;4.24e-05)|all_hematologic(158;0.000141)|Breast(348;0.026)|all_neural(223;0.0729) BRCA - Breast invasive adenocarcinoma(274;2.48e-05)|Epithelial(105;4.35e-05)|all cancers(92;0.000609)|OV - Ovarian serous cystadenocarcinoma(223;0.133) GTGTGCACACCAGGTCGGCTT 0.353000 T NUP98 AML* 39 19 0 0 0.00188189 0 0 OR2AK2 391191 broad.mit.edu 37 1 248129595 248129595 + Missense_Mutation SNP G A A TCGA-EE-A3AC-06A-11D-A196-08 TCGA-EE-A3AC-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 883d623b-c427-4444-9ee3-66d18648130f f8f00311-8db5-4187-bcb8-5054d9fbdac3 g.chr1:248129595G>A uc010pzd.2 + 0 962 c.962G>A c.(961-963)gGa>gAa p.G321E OR2L13_uc001ids.3_Intron NM_001004491 NP_001004491 Q8NG84 O2AK2_HUMAN Homo sapiens olfactory receptor, family 2, subfamily AK, member 2 (OR2AK2), mRNA. 321 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity p.L320L(1) NS(1)|breast(1)|central_nervous_system(2)|endometrium(1)|kidney(1)|large_intestine(2)|lung(25)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1) 36 all_cancers(71;0.000139)|all_epithelial(71;1.58e-05)|Breast(184;0.0117)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136) OV - Ovarian serous cystadenocarcinoma(106;0.0152) AGACTGTTGGGATATTGGATA 0.398000 56 20 0 0 0.000375601 0 0 C9orf174 100499483 broad.mit.edu 37 9 100139087 100139087 + Missense_Mutation SNP G A A TCGA-EE-A3AC-06A-11D-A196-08 TCGA-EE-A3AC-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 883d623b-c427-4444-9ee3-66d18648130f f8f00311-8db5-4187-bcb8-5054d9fbdac3 g.chr9:100139087G>A uc011lut.2 + 50 6440 c.5434G>A c.(5434-5436)Gat>Aat p.D1812N C9orf174_uc004axe.2_Missense_Mutation_p.D1618N|C9orf174_uc011lus.2_Missense_Mutation_p.D1399N|C9orf174_uc004axg.2_Missense_Mutation_p.D1673N|C9orf174_uc004axh.2_Non-coding_Transcript NM_020893 NP_065944 Q9P1Z9 CI174_HUMAN Homo sapiens chromosome 9 open reading frame 174 (C9orf174), mRNA. 1618 integral to membrane breast(1)|endometrium(4)|kidney(1)|lung(9)|urinary_tract(1) 16 GAGGATCCAGGATGACTGTAC 0.532000 44 26 0 0 0.000878237 0 0 SH2D4B 387694 broad.mit.edu 37 10 82331326 82331326 + Missense_Mutation SNP G A A TCGA-EE-A3AC-06A-11D-A196-08 TCGA-EE-A3AC-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 883d623b-c427-4444-9ee3-66d18648130f f8f00311-8db5-4187-bcb8-5054d9fbdac3 g.chr10:82331326G>A uc001kck.1 + 2 917 c.487G>A c.(487-489)Gaa>Aaa p.E163K SH2D4B_uc001kcl.1_Missense_Mutation_p.E114K NM_207372 NP_997255 Q5SQS7 SH24B_HUMAN Homo sapiens SH2 domain containing 4B (SH2D4B), transcript variant 1, mRNA. 162 Glu-rich. endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(2)|lung(6) 13 Colorectal(32;0.229) CATCCACGAGGAATTCAAGGT 0.592000 37 28 0 0 0.000814825 0 0 PADI4 23569 broad.mit.edu 37 1 17690064 17690064 + Silent SNP C T T TCGA-EE-A3AC-06A-11D-A196-08 TCGA-EE-A3AC-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 883d623b-c427-4444-9ee3-66d18648130f f8f00311-8db5-4187-bcb8-5054d9fbdac3 g.chr1:17690064C>T uc001baj.2 + 15 1834 c.1806C>T c.(1804-1806)ttC>ttT p.F602F NM_012387 NP_036519 Q9UM07 PADI4_HUMAN Homo sapiens peptidyl arginine deiminase, type IV (PADI4), mRNA. 602 chromatin modification|peptidyl-citrulline biosynthetic process from peptidyl-arginine|regulation of transcription, DNA-dependent|transcription, DNA-dependent cytoplasm|nucleus calcium ion binding|protein-arginine deiminase activity autonomic_ganglia(1)|breast(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(13)|ovary(2)|skin(2)|urinary_tract(3) 26 Colorectal(325;3.46e-05)|Breast(348;0.000162)|all_lung(284;0.000338)|Lung NSC(340;0.00042)|Renal(390;0.000518)|Ovarian(437;0.00409)|Myeloproliferative disorder(586;0.0255) UCEC - Uterine corpus endometrioid carcinoma (279;0.00537)|BRCA - Breast invasive adenocarcinoma(304;8.54e-06)|COAD - Colon adenocarcinoma(227;1.33e-05)|Kidney(64;0.000223)|KIRC - Kidney renal clear cell carcinoma(64;0.00313)|STAD - Stomach adenocarcinoma(196;0.00707)|READ - Rectum adenocarcinoma(331;0.0689)|Lung(427;0.199) L-Citrulline(DB00155) CCAAGCCCTTCGGGCCCGTCA 0.632000 11 7 0 0 0.000274275 0 0 LPIN3 64900 broad.mit.edu 37 20 39977295 39977295 + Missense_Mutation SNP C T T TCGA-EE-A3AC-06A-11D-A196-08 TCGA-EE-A3AC-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 883d623b-c427-4444-9ee3-66d18648130f f8f00311-8db5-4187-bcb8-5054d9fbdac3 g.chr20:39977295C>T uc010ggh.3 + 3 416 c.325C>T c.(325-327)Cct>Tct p.P109S LPIN3_uc002xjx.3_Missense_Mutation_p.P109S|LPIN3_uc010zwf.2_Non-coding_Transcript NM_022896 NP_075047 Q9BQK8 LPIN3_HUMAN Homo sapiens lipin 3 (LPIN3), mRNA. 109 fatty acid metabolic process nucleus phosphatidate phosphatase activity breast(2)|central_nervous_system(1)|cervix(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|liver(2)|lung(7)|ovary(4)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 31 Myeloproliferative disorder(115;0.000739) CTCACCCATCCCTTGGGGGGG 0.667000 26 35 0 0 0.00128727 0 0 TMPRSS11D 9407 broad.mit.edu 37 4 68725321 68725321 + Silent SNP C T T TCGA-EE-A3AC-06A-11D-A196-08 TCGA-EE-A3AC-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 883d623b-c427-4444-9ee3-66d18648130f f8f00311-8db5-4187-bcb8-5054d9fbdac3 g.chr4:68725321C>T uc003hdq.3 - 1 149 c.84G>A c.(82-84)gtG>gtA p.V28V LOC550112_uc003hdl.4_Intron|TMPRSS11D_uc011caj.2_Intron NM_004262 NP_004253 O60235 TM11D_HUMAN Homo sapiens transmembrane protease, serine 11D (TMPRSS11D), mRNA. 28 proteolysis|respiratory gaseous exchange extracellular region|integral to plasma membrane serine-type endopeptidase activity cervix(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(4)|lung(10)|ovary(1)|skin(1)|upper_aerodigestive_tract(2) 23 CTGCCAGGATCACTACCCCTG 0.383000 16 18 0 0 0.000958276 0 0 ADAM32 203102 broad.mit.edu 37 8 39080726 39080726 + Silent SNP C T T TCGA-EE-A3AC-06A-11D-A196-08 TCGA-EE-A3AC-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 883d623b-c427-4444-9ee3-66d18648130f f8f00311-8db5-4187-bcb8-5054d9fbdac3 g.chr8:39080726C>T uc003xmt.4 + 13 1739 c.1494C>T c.(1492-1494)ctC>ctT p.L498L ADAM32_uc011lch.2_Silent_p.L399L|ADAM32_uc003xmu.4_Silent_p.L392L|ADAM32_uc003xmv.3_Missense_Mutation_p.S20L NM_145004 NP_659441 Q8TC27 ADA32_HUMAN Homo sapiens ADAM metallopeptidase domain 32 (ADAM32), mRNA. 498 Cys-rich. proteolysis integral to membrane metalloendopeptidase activity|zinc ion binding breast(1)|endometrium(4)|kidney(2)|large_intestine(7)|lung(14)|ovary(1)|skin(2) 31 all_cancers(7;3e-05)|all_lung(54;0.00187)|Hepatocellular(245;0.00745)|Lung NSC(58;0.00771)|Breast(189;0.0503) LUSC - Lung squamous cell carcinoma(45;6.2e-07)|Colorectal(1;0.00699)|READ - Rectum adenocarcinoma(1;0.146) GCCATGATCTCGATGCACGTT 0.353000 9 10 0 0 0.000978159 0 0 KIF18A 81930 broad.mit.edu 37 11 28113042 28113042 + Missense_Mutation SNP G A A TCGA-EE-A3AC-06A-11D-A196-08 TCGA-EE-A3AC-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 883d623b-c427-4444-9ee3-66d18648130f f8f00311-8db5-4187-bcb8-5054d9fbdac3 g.chr11:28113042G>A uc001msc.2 - 3 684 c.502C>T c.(502-504)Cgt>Tgt p.R168C NM_031217 NP_112494 Q8NI77 KI18A_HUMAN Homo sapiens kinesin family member 18A (KIF18A), mRNA. 168 Kinesin-motor. blood coagulation|microtubule depolymerization|microtubule-based movement|mitotic metaphase plate congression|mitotic prometaphase|protein transport caveola|cytosol|kinetochore microtubule|microtubule organizing center|nucleus|ruffle ATP binding|actin binding|microtubule plus-end binding|plus-end-directed microtubule motor activity|tubulin-dependent ATPase activity|ubiquitin binding breast(2)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(11)|lung(10)|ovary(3)|prostate(1)|skin(1)|urinary_tract(2) 36 AAGAGATCACGAATCTGTTCA 0.348000 48 40 0 0 0.00195071 0 0 CX3CR1 1524 broad.mit.edu 37 3 39307342 39307342 + Missense_Mutation SNP G A A TCGA-EE-A3AC-06A-11D-A196-08 TCGA-EE-A3AC-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 883d623b-c427-4444-9ee3-66d18648130f f8f00311-8db5-4187-bcb8-5054d9fbdac3 g.chr3:39307342G>A uc021wwc.1 - 1 795 c.755C>T c.(754-756)tCc>tTc p.S252F CX3CR1_uc021wwa.1_Missense_Mutation_p.S220F|CX3CR1_uc021wwb.1_Missense_Mutation_p.S220F|CX3CR1_uc003cjl.3_Missense_Mutation_p.S220F|CX3CR1_uc021wwd.1_Missense_Mutation_p.S220F NM_001171174 NP_001164645 P49238 CX3C1_HUMAN Homo sapiens chemokine (C-X3-C motif) receptor 1 (CX3CR1), transcript variant 1, mRNA. 220 cell adhesion|cellular defense response|chemotaxis|interspecies interaction between organisms|response to wounding integral to plasma membrane chemokine receptor activity endometrium(3)|kidney(1)|large_intestine(4)|lung(13)|prostate(1)|skin(1)|urinary_tract(1) 24 KIRC - Kidney renal clear cell carcinoma(284;0.0557)|Kidney(284;0.0699) GTTCTTGCAGGAAAACAGCGT 0.453000 74 39 0 0 0.000680045 0 0 KIAA1210 57481 broad.mit.edu 37 X 118223315 118223315 + Silent SNP G A A TCGA-EE-A3AC-06A-11D-A196-08 TCGA-EE-A3AC-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 883d623b-c427-4444-9ee3-66d18648130f f8f00311-8db5-4187-bcb8-5054d9fbdac3 g.chrX:118223315G>A uc004era.4 - 10 1878 c.1878C>T c.(1876-1878)ttC>ttT p.F626F NM_020721 NP_065772 Q9ULL0 K1210_HUMAN Homo sapiens KIAA1210 (KIAA1210), mRNA. 626 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 TTCTGGATCCGAAATCTATGC 0.468000 5 19 0 0 0.00229938 0 0 PTPRT 11122 broad.mit.edu 37 20 41419904 41419904 + Silent SNP G A A TCGA-EE-A3AC-06A-11D-A196-08 TCGA-EE-A3AC-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 883d623b-c427-4444-9ee3-66d18648130f f8f00311-8db5-4187-bcb8-5054d9fbdac3 g.chr20:41419904G>A uc002xkg.3 - 2 601 c.417C>T c.(415-417)tcC>tcT p.S139S PTPRT_uc010ggj.3_Silent_p.S139S NM_007050 NP_008981 O14522 PTPRT_HUMAN Homo sapiens protein tyrosine phosphatase, receptor type, T (PTPRT), transcript variant 2, mRNA. 139 MAM. homophilic cell adhesion|transmembrane receptor protein tyrosine kinase signaling pathway cell surface|integral to membrane|plasma membrane alpha-catenin binding|beta-catenin binding|cadherin binding|delta-catenin binding|gamma-catenin binding|protein tyrosine phosphatase activity|receptor activity NS(2)|breast(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(4)|kidney(12)|large_intestine(26)|liver(1)|lung(63)|ovary(8)|pancreas(2)|prostate(5)|skin(35)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(3) 176 Myeloproliferative disorder(115;0.00452)|Lung NSC(126;0.0573)|all_lung(126;0.0783) TGACGACCCCGGACACATTCC 0.532000 94 35 0 0 0.000953801 0 0 MAGED1 9500 broad.mit.edu 37 X 51641714 51641714 + Missense_Mutation SNP C T T TCGA-EE-A3AC-06A-11D-A196-08 TCGA-EE-A3AC-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 883d623b-c427-4444-9ee3-66d18648130f f8f00311-8db5-4187-bcb8-5054d9fbdac3 g.chrX:51641714C>T uc004dpn.3 + 10 2177 c.1987C>T c.(1987-1989)Ctc>Ttc p.L663F MAGED1_uc004dpm.3_Missense_Mutation_p.L607F|MAGED1_uc004dpo.3_Missense_Mutation_p.L607F NM_001005333 NP_001005333 Q9Y5V3 MAGD1_HUMAN Homo sapiens melanoma antigen family D, 1 (MAGED1), transcript variant 1, mRNA. 607 MAGE. 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) AAGGAAACTTCTCACCTATGA 0.453000 Multiple Myeloma(10;0.10) 3 13 0 0 0.000422831 0 0 TMEM225 338661 broad.mit.edu 37 11 123756080 123756080 + Missense_Mutation SNP G A A TCGA-EE-A3AC-06A-11D-A196-08 TCGA-EE-A3AC-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 883d623b-c427-4444-9ee3-66d18648130f f8f00311-8db5-4187-bcb8-5054d9fbdac3 g.chr11:123756080G>A uc001pzi.3 - 0 261 c.53C>T c.(52-54)tCc>tTc p.S18F NM_001013743 NP_001013765 Q6GV28 TM225_HUMAN Homo sapiens transmembrane protein 225 (TMEM225), mRNA. 18 integral to membrane endometrium(2)|kidney(2)|large_intestine(2)|lung(12)|pancreas(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(3) 28 TACGGCCCAGGAGGAGAAAAG 0.408000 4 11 0 0 0.000978159 0 0 FAM131B 9715 broad.mit.edu 37 7 143054034 143054034 + Missense_Mutation SNP G A A TCGA-EE-A3AC-06A-11D-A196-08 TCGA-EE-A3AC-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 883d623b-c427-4444-9ee3-66d18648130f f8f00311-8db5-4187-bcb8-5054d9fbdac3 g.chr7:143054034G>A uc010lpa.3 - 6 836 c.692C>T c.(691-693)gCc>gTc p.A231V FAM131B_uc010loz.3_Missense_Mutation_p.A171V|FAM131B_uc003wct.3_Missense_Mutation_p.A203V|FAM131B_uc003wcu.4_Missense_Mutation_p.A203V NM_001031690 NP_055505 Q86XD5 F131B_HUMAN Homo sapiens family with sequence similarity 131, member B (FAM131B), transcript variant a, mRNA. 203 breast(1)|endometrium(4)|large_intestine(3)|lung(13)|ovary(1)|skin(2) 24 Melanoma(164;0.205) GGCTTCCCAGGCATCTGACGA 0.542000 25 13 0 0 0.00136819 0 0 ZNF555 148254 broad.mit.edu 37 19 2853499 2853499 + Missense_Mutation SNP C T T TCGA-EE-A3AC-06A-11D-A196-08 TCGA-EE-A3AC-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 883d623b-c427-4444-9ee3-66d18648130f f8f00311-8db5-4187-bcb8-5054d9fbdac3 g.chr19:2853499C>T uc002lwo.3 + 3 1574 c.1436C>T c.(1435-1437)tCc>tTc p.S479F ZNF555_uc002lwn.4_Missense_Mutation_p.S478F NM_152791 NP_690004 Q8NEP9 ZN555_HUMAN Homo sapiens zinc finger protein 555 (ZNF555), transcript variant 1, mRNA. 479 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding breast(1)|endometrium(2)|kidney(2)|large_intestine(6)|lung(3)|ovary(1)|prostate(1)|skin(3)|urinary_tract(4) 23 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) GAAGACAAATCCTATGAATGC 0.413000 43 25 0 0 0.000586117 0 0 GPR75 10936 broad.mit.edu 37 2 54080959 54080959 + Missense_Mutation SNP G A A TCGA-EE-A3AC-06A-11D-A196-08 TCGA-EE-A3AC-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 883d623b-c427-4444-9ee3-66d18648130f f8f00311-8db5-4187-bcb8-5054d9fbdac3 g.chr2:54080959G>A uc021vhn.1 - 0 935 c.935C>T c.(934-936)tCc>tTc p.S312F GPR75-ASB3_uc002rxi.4_Intron|GPR75_uc002rxo.3_Missense_Mutation_p.S312F NM_006794 NP_006785 O95800 GPR75_HUMAN Homo sapiens G protein-coupled receptor 75 (GPR75), mRNA. 312 integral to plasma membrane G-protein coupled receptor activity breast(1)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(4)|lung(3)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1) 18 Lung(47;0.125)|LUSC - Lung squamous cell carcinoma(58;0.181) CTTGGCAGTGGAGAGGTTGAT 0.542000 25 18 0 0 0.00074312 0 0 CCDC3 83643 broad.mit.edu 37 10 12940443 12940443 + Silent SNP G A A TCGA-EE-A3AC-06A-11D-A196-08 TCGA-EE-A3AC-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 883d623b-c427-4444-9ee3-66d18648130f f8f00311-8db5-4187-bcb8-5054d9fbdac3 g.chr10:12940443G>A uc001ilq.1 - 2 920 c.786C>T c.(784-786)ccC>ccT p.P262P CCDC3_uc009xjb.1_Non-coding_Transcript|CCDC3_uc001ilr.2_Non-coding_Transcript|CCDC3_uc009xjc.1_Non-coding_Transcript|CCDC3_uc021pna.1_Non-coding_Transcript NM_031455 NP_113643 Q9BQI4 CCDC3_HUMAN Homo sapiens coiled-coil domain containing 3 (CCDC3), mRNA. 262 endoplasmic reticulum|extracellular region central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(1)|lung(2)|ovary(1)|prostate(2) 11 Ovarian(717;0.0822) BRCA - Breast invasive adenocarcinoma(52;0.163) GGGGGCGCACGGGCCCCCGGG 0.667000 23 23 0 0 0.00047179 0 0 FAM135B 51059 broad.mit.edu 37 8 139165277 139165277 + Missense_Mutation SNP C T T TCGA-EE-A3AC-06A-11D-A196-08 TCGA-EE-A3AC-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 883d623b-c427-4444-9ee3-66d18648130f f8f00311-8db5-4187-bcb8-5054d9fbdac3 g.chr8:139165277C>T uc003yuy.3 - 12 1612 c.1441G>A c.(1441-1443)Gag>Aag p.E481K FAM135B_uc003yux.3_Missense_Mutation_p.E382K|FAM135B_uc003yuz.3_Non-coding_Transcript|FAM135B_uc003yva.3_Missense_Mutation_p.E43K|FAM135B_uc003yvb.3_Missense_Mutation_p.E43K NM_015912 NP_056996 Q49AJ0 F135B_HUMAN Homo sapiens family with sequence similarity 135, member B (FAM135B), mRNA. 481 p.E481*(3) NS(3)|breast(9)|endometrium(21)|kidney(5)|large_intestine(28)|liver(1)|lung(135)|ovary(9)|pancreas(1)|prostate(7)|skin(9)|stomach(1)|upper_aerodigestive_tract(8)|urinary_tract(1) 238 all_epithelial(106;8.29e-14)|Lung NSC(106;6.88e-06)|all_lung(105;1.44e-05)|Ovarian(258;0.00672)|Acute lymphoblastic leukemia(118;0.155) BRCA - Breast invasive adenocarcinoma(115;0.0805) TCACCTGGCTCTGGACACCTT 0.393000 HNSCC(54;0.14) 36 23 0 0 0.001512 0 0 CYP2R1 120227 broad.mit.edu 37 11 14913746 14913747 + Nonsense_Mutation DNP CC TT TT TCGA-EE-A3AC-06A-11D-A196-08 TCGA-EE-A3AC-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 883d623b-c427-4444-9ee3-66d18648130f f8f00311-8db5-4187-bcb8-5054d9fbdac3 g.chr11:14913746_14913747CC>TT uc001mlr.3 - 0 5_6 c.5_6GG>AA c.(4-6)tgg>tAA p.W2* CYP2R1_uc001mlp.3_5'Flank|CYP2R1_uc001mlq.3_5'Flank NM_024514 NP_078790 Q6VVX0 CP2R1_HUMAN Homo sapiens cytochrome P450, family 2, subfamily R, polypeptide 1 (CYP2R1), mRNA. 2 hormone biosynthetic process|vitamin D metabolic process|xenobiotic metabolic process endoplasmic reticulum membrane|microsome cholestanetriol 26-monooxygenase activity|electron carrier activity|heme binding|vitamin D3 25-hydroxylase activity breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(1)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 14 Cholecalciferol(DB00169)|Ergocalciferol(DB00153) TCCAAAGCTTCCACATCGGCCC 0.673000 16 6 0 0 6.4e-05 0 0 EPHA2 1969 broad.mit.edu 37 1 16458928 16458928 + Missense_Mutation SNP G A A TCGA-EE-A3AC-06A-11D-A196-08 TCGA-EE-A3AC-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 883d623b-c427-4444-9ee3-66d18648130f f8f00311-8db5-4187-bcb8-5054d9fbdac3 g.chr1:16458928G>A uc001aya.2 - 11 2215 c.2060C>T c.(2059-2061)cCc>cTc p.P687L NM_004431 NP_004422 P29317 EPHA2_HUMAN Homo sapiens EPH receptor A2 (EPHA2), mRNA. 687 Mediates interaction with ARHGEF16 and ELMO2.|Protein kinase. activation of Rac GTPase activity|angiogenesis|apoptosis|cell chemotaxis|negative regulation of protein kinase B signaling cascade|positive regulation of establishment of protein localization in plasma membrane|protein kinase B signaling cascade|regulation of blood vessel endothelial cell migration|regulation of cell adhesion mediated by integrin|regulation of lamellipodium assembly|response to growth factor stimulus focal adhesion|integral to plasma membrane|lamellipodium membrane|ruffle membrane ATP binding|ephrin receptor activity|protein binding NS(1)|biliary_tract(1)|breast(3)|central_nervous_system(3)|cervix(2)|endometrium(1)|kidney(1)|large_intestine(6)|lung(12)|ovary(2)|pancreas(1)|prostate(3)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(1) 42 Colorectal(325;3.46e-05)|Breast(348;0.000278)|Lung NSC(340;0.000419)|Renal(390;0.000518)|all_lung(284;0.000567)|Ovarian(437;0.0221)|Myeloproliferative disorder(586;0.0255) UCEC - Uterine corpus endometrioid carcinoma (279;0.0181)|Colorectal(212;3.63e-07)|COAD - Colon adenocarcinoma(227;2.25e-05)|BRCA - Breast invasive adenocarcinoma(304;9.58e-05)|Kidney(64;0.000175)|KIRC - Kidney renal clear cell carcinoma(64;0.00261)|STAD - Stomach adenocarcinoma(313;0.00669)|READ - Rectum adenocarcinoma(331;0.0649) Dasatinib(DB01254) GATCATCATGGGCTTGTCTGT 0.592000 41 22 0 0 0.000375601 0 0 LLGL2 3993 broad.mit.edu 37 17 73567141 73567141 + Silent SNP C T T TCGA-EE-A3AC-06A-11D-A196-08 TCGA-EE-A3AC-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 883d623b-c427-4444-9ee3-66d18648130f f8f00311-8db5-4187-bcb8-5054d9fbdac3 g.chr17:73567141C>T uc002joh.3 + 16 2290 c.2136C>T c.(2134-2136)ttC>ttT p.F712F LLGL2_uc002joi.3_Silent_p.F712F|LLGL2_uc010dgg.2_Silent_p.F712F|LLGL2_uc002joj.3_Silent_p.F701F|LLGL2_uc010wsd.2_Silent_p.F339F NM_001031803 NP_001026973 Q6P1M3 L2GL2_HUMAN Homo sapiens lethal giant larvae homolog 2 (Drosophila) (LLGL2), transcript variant 3, mRNA. 712 cell cycle|cell division|exocytosis|regulation of establishment or maintenance of cell polarity cytoplasm|intracellular membrane-bounded organelle PDZ domain binding NS(1)|breast(3)|cervix(2)|endometrium(2)|kidney(1)|large_intestine(2)|lung(9)|ovary(2)|pancreas(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1) 31 all_cancers(13;3.15e-09)|all_epithelial(9;5.78e-10)|Breast(9;5.8e-10)|all_lung(278;0.246) all cancers(21;1.8e-07)|Epithelial(20;1.38e-06)|Lung(188;0.0696)|LUSC - Lung squamous cell carcinoma(166;0.112) TCACAGGCTTCGTCCGGACCC 0.652000 132 48 0 0 0.000781405 0 0 SREBF2 6721 broad.mit.edu 37 22 42263286 42263286 + Splice_Site SNP T C C TCGA-EE-A3AC-06A-11D-A196-08 TCGA-EE-A3AC-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 883d623b-c427-4444-9ee3-66d18648130f f8f00311-8db5-4187-bcb8-5054d9fbdac3 g.chr22:42263286T>C uc003bbi.3 + 2 707 c.538_splice c.e2+2 p.V180_splice bK250D10.C22.8_uc003bba.1_Intron NM_004599 NP_004590 Q12772 SRBP2_HUMAN Homo sapiens sterol regulatory element binding transcription factor 2 (SREBF2), mRNA. 180 Gln-rich. cholesterol metabolic process ER to Golgi transport vesicle membrane|Golgi membrane|SREBP-SCAP-Insig complex|nucleus protein C-terminus binding NS(2)|breast(6)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(5)|lung(9)|ovary(1)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1) 38 GCTTTCAAGGTGATTCAGAAG 0.448000 60 26 0 0 0.00127121 0 0 PCDHB4 56131 broad.mit.edu 37 5 140501624 140501624 + Missense_Mutation SNP C T T TCGA-EE-A3AC-06A-11D-A196-08 TCGA-EE-A3AC-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 883d623b-c427-4444-9ee3-66d18648130f f8f00311-8db5-4187-bcb8-5054d9fbdac3 g.chr5:140501624C>T uc003lip.1 + 0 44 c.44C>T c.(43-45)gCc>gTc p.A15V NM_018938 NP_061761 Q9Y5E5 PCDB4_HUMAN Homo sapiens protocadherin beta 4 (PCDHB4), mRNA. 15 calcium-dependent cell-cell adhesion|homophilic cell adhesion|synapse assembly|synaptic transmission cytoplasm|integral to plasma membrane|intermediate filament cytoskeleton calcium ion binding autonomic_ganglia(1)|breast(2)|endometrium(4)|kidney(2)|large_intestine(12)|lung(35)|ovary(1)|pancreas(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(1) 67 KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339) CAAGTGTTGGCCTTTATTTTG 0.498000 41 23 0 0 0.000878237 0 0 CACNA1B 774 broad.mit.edu 37 9 141016315 141016315 + Missense_Mutation SNP C T T TCGA-EE-A3AC-06A-11D-A196-08 TCGA-EE-A3AC-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 883d623b-c427-4444-9ee3-66d18648130f f8f00311-8db5-4187-bcb8-5054d9fbdac3 g.chr9:141016315C>T uc004cog.3 + 45 7023 c.6878C>T c.(6877-6879)tCc>tTc p.S2293F CACNA1B_uc022bqn.1_Missense_Mutation_p.P2231S|CACNA1B_uc004coi.3_Missense_Mutation_p.S1507F NM_000718 NP_000709 Q00975 CAC1B_HUMAN Homo sapiens calcium channel, voltage-dependent, N type, alpha 1B subunit (CACNA1B), transcript variant 1, mRNA. 2295 membrane depolarization|synaptic transmission voltage-gated calcium channel complex ATP binding|protein C-terminus binding|voltage-gated calcium channel activity NS(3)|autonomic_ganglia(1)|breast(7)|central_nervous_system(1)|endometrium(10)|kidney(2)|large_intestine(17)|lung(31)|ovary(1)|prostate(1)|skin(2)|stomach(2)|urinary_tract(2) 80 all_cancers(76;0.166) OV - Ovarian serous cystadenocarcinoma(145;1.16e-05)|Epithelial(140;0.000476) Amlodipine(DB00381)|Gabapentin(DB00996) TCCAGGACTTCCTACGTGTCC 0.662000 38 20 0 0 0.00229938 0 0 AGER 177 broad.mit.edu 37 6 32151127 32151127 + Missense_Mutation SNP C T T TCGA-EE-A3AC-06A-11D-A196-08 TCGA-EE-A3AC-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 883d623b-c427-4444-9ee3-66d18648130f f8f00311-8db5-4187-bcb8-5054d9fbdac3 g.chr6:32151127C>T uc003oal.2 - 3 494 c.394G>A c.(394-396)Gaa>Aaa p.E132K AGER_uc021yvm.1_Missense_Mutation_p.E45K|AGER_uc021yvn.1_Missense_Mutation_p.E31K|AGER_uc010jtw.2_Non-coding_Transcript|AGER_uc021yvp.1_5'UTR|AGER_uc021yvq.1_Missense_Mutation_p.E31K|AGER_uc011dpn.2_Missense_Mutation_p.E31K|AGER_uc011dpm.2_Missense_Mutation_p.E31K|AGER_uc003oap.2_Missense_Mutation_p.E132K|AGER_uc021yvr.1_Missense_Mutation_p.E132K|AGER_uc003oam.2_Intron|AGER_uc003oau.2_Missense_Mutation_p.E132K|AGER_uc003oas.2_Missense_Mutation_p.E132K|AGER_uc010jtv.2_Missense_Mutation_p.E132K|AGER_uc003oar.3_Missense_Mutation_p.E31K|AGER_uc003oaq.2_Missense_Mutation_p.E118K|AGER_uc003oat.2_Missense_Mutation_p.E132K|AGER_uc003oan.2_Missense_Mutation_p.E118K|AGER_uc011dpo.2_Missense_Mutation_p.E45K|AGER_uc003oao.2_Non-coding_Transcript|AGER_uc021yvo.1_Missense_Mutation_p.E45K|AGER_uc011dpp.2_Missense_Mutation_p.E163K|AGER_uc011dpq.2_Missense_Mutation_p.E163K|AGER_uc011dpr.2_Missense_Mutation_p.E163K NM_001136 NP_001127 Q15109 RAGE_HUMAN Homo sapiens advanced glycosylation end product-specific receptor (AGER), transcript variant 1, mRNA. 132 Ig-like C2-type 1. cell surface receptor linked signaling pathway|inflammatory response|innate immune response|neuron projection development|positive regulation of NF-kappaB transcription factor activity integral to plasma membrane S100 alpha binding|transmembrane receptor activity breast(1)|endometrium(1)|lung(5)|pancreas(2) 9 GCCGTGAGTTCAGAGGCAGAA 0.493000 198 136 0 0 0.000781405 0 0 GBA3 57733 broad.mit.edu 37 4 22820518 22820518 + Missense_Mutation SNP G A A TCGA-EE-A3AC-06A-11D-A196-08 TCGA-EE-A3AC-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 883d623b-c427-4444-9ee3-66d18648130f f8f00311-8db5-4187-bcb8-5054d9fbdac3 g.chr4:22820518G>A uc003gqp.4 + 5 1470 c.1379G>A c.(1378-1380)cGa>cAa p.R460Q GBA3_uc010iep.3_Missense_Mutation_p.R153Q|GBA3_uc011bxo.2_3'UTR NM_020973 NP_066024 Q9H227 GBA3_HUMAN Homo sapiens glucosidase, beta, acid 3 (cytosolic) (GBA3), transcript variant 1, mRNA. 461 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 AAGATCATCCGAAACAATGGC 0.483000 2 10 0 0 0.000978159 0 0 FAM5B 57795 broad.mit.edu 37 1 177245527 177245527 + Silent SNP C T T TCGA-EE-A3AC-06A-11D-A196-08 TCGA-EE-A3AC-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 883d623b-c427-4444-9ee3-66d18648130f f8f00311-8db5-4187-bcb8-5054d9fbdac3 g.chr1:177245527C>T uc001glf.3 + 5 1281 c.969C>T c.(967-969)atC>atT p.I323I FAM5B_uc010pna.1_Silent_p.I73I|FAM5B_uc001glg.3_Silent_p.I218I NM_021165 NP_066988 Q9C0B6 FAM5B_HUMAN Homo sapiens family with sequence similarity 5, member B (FAM5B), mRNA. 323 extracellular region breast(3)|endometrium(8)|haematopoietic_and_lymphoid_tissue(3)|kidney(4)|large_intestine(21)|liver(1)|lung(41)|ovary(2)|prostate(1)|skin(7)|upper_aerodigestive_tract(2)|urinary_tract(1) 94 TGCTGCAGATCCAGGACTCCT 0.572000 40 10 0 0 0.000673444 0 0 NOTCH4 4855 broad.mit.edu 37 6 32182001 32182001 + Missense_Mutation SNP C T T TCGA-EE-A3AC-06A-11D-A196-08 TCGA-EE-A3AC-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 883d623b-c427-4444-9ee3-66d18648130f f8f00311-8db5-4187-bcb8-5054d9fbdac3 g.chr6:32182001C>T uc003obb.3 - 12 2192 c.2053G>A c.(2053-2055)Ggg>Agg p.G685R NOTCH4_uc011dpu.2_Non-coding_Transcript|NOTCH4_uc011dpv.2_Non-coding_Transcript NM_004557 NP_004548 Q99466 NOTC4_HUMAN Homo sapiens notch 4 (NOTCH4), mRNA. 685 EGF-like 17. Notch receptor processing|Notch signaling pathway|cell fate determination|embryo development|hemopoiesis|mammary gland development|negative regulation of endothelial cell differentiation|patterning of blood vessels|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent Golgi lumen|cell surface|cytosol|endoplasmic reticulum lumen|extracellular region|integral to plasma membrane|nucleoplasm calcium ion binding|protein heterodimerization activity|receptor activity p.T684M(2) NS(1)|autonomic_ganglia(1)|breast(4)|central_nervous_system(4)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(11)|lung(47)|ovary(5)|prostate(4)|skin(10)|upper_aerodigestive_tract(1)|urinary_tract(1) 100 CACTCTGGCCCCGTCCAACCC 0.597000 151 78 0 0 0.000781405 0 0 SPANXN5 494197 broad.mit.edu 37 X 52826350 52826350 + Silent SNP C T T TCGA-EE-A3AC-06A-11D-A196-08 TCGA-EE-A3AC-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 883d623b-c427-4444-9ee3-66d18648130f f8f00311-8db5-4187-bcb8-5054d9fbdac3 g.chrX:52826350C>T uc004drc.1 - 0 39 c.39G>A c.(37-39)agG>agA p.R13R NM_001009616 NP_001009616 Q5MJ07 SPXN5_HUMAN Homo sapiens SPANX family, member N5 (SPANXN5), mRNA. 13 p.R13R(3) large_intestine(1)|lung(5)|skin(2) 8 Ovarian(276;0.236) AGGGGCTCTTCCTCTTCTCCC 0.478000 10 65 0 0 0.000781405 0 0 DNAH5 1767 broad.mit.edu 37 5 13769624 13769624 + Missense_Mutation SNP C T T TCGA-EE-A3AC-06A-11D-A196-08 TCGA-EE-A3AC-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 883d623b-c427-4444-9ee3-66d18648130f f8f00311-8db5-4187-bcb8-5054d9fbdac3 g.chr5:13769624C>T uc003jfd.2 - 56 9748 c.9706G>A c.(9706-9708)Gat>Aat p.D3236N DNAH5_uc003jfc.2_5'Flank NM_001369 NP_001360 Q8TE73 DYH5_HUMAN Homo sapiens dynein, axonemal, heavy chain 5 (DNAH5), mRNA. 3236 Stalk (By similarity). microtubule-based movement cilium axoneme|cytoplasm|microtubule ATP binding|ATPase activity|microtubule motor activity NS(6)|breast(14)|central_nervous_system(4)|cervix(2)|endometrium(23)|haematopoietic_and_lymphoid_tissue(8)|kidney(11)|large_intestine(85)|liver(1)|lung(129)|ovary(16)|pancreas(2)|prostate(5)|skin(48)|stomach(5)|upper_aerodigestive_tract(11)|urinary_tract(8) 378 Lung NSC(4;0.00476) TCGGCTTTATCGTTGGCCACT 0.418000 Kartagener syndrome 56 36 0 0 0.000953801 0 0 PCDHGC5 56097 broad.mit.edu 37 5 140745801 140745801 + Missense_Mutation SNP G A A TCGA-EE-A3AC-06A-11D-A196-08 TCGA-EE-A3AC-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 883d623b-c427-4444-9ee3-66d18648130f f8f00311-8db5-4187-bcb8-5054d9fbdac3 g.chr5:140745801G>A uc003lju.2 + 0 1904 c.1904G>A c.(1903-1905)aGa>aAa p.R635K PCDHGC5_uc003lji.2_Intron|PCDHGC5_uc003ljk.2_Intron|PCDHGC5_uc003ljm.2_Intron|PCDHGC5_uc003ljo.2_Intron|PCDHGC5_uc003ljq.2_Intron|PCDHGC5_uc003ljs.2_Intron|PCDHGC5_uc011das.2_Missense_Mutation_p.R635K NM_018918 NP_061741 Q9Y5F6 PCDGM_HUMAN Homo sapiens protocadherin gamma subfamily A, 5 (PCDHGA5), transcript variant 1, mRNA. 637 Cadherin 6. homophilic cell adhesion integral to membrane|plasma membrane calcium ion binding breast(2)|central_nervous_system(2)|endometrium(6)|kidney(4)|large_intestine(4)|lung(10)|ovary(4)|prostate(1)|urinary_tract(2) 35 KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191) CTGCTGGACAGAGACGCGCTC 0.672000 52 45 0 0 0.000781405 0 0 DBC1 1620 broad.mit.edu 37 9 121930245 121930245 + Missense_Mutation SNP G A A TCGA-EE-A3AC-06A-11D-A196-08 TCGA-EE-A3AC-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 883d623b-c427-4444-9ee3-66d18648130f f8f00311-8db5-4187-bcb8-5054d9fbdac3 g.chr9:121930245G>A uc004bkc.2 - 7 1859 c.1403C>T c.(1402-1404)tCg>tTg p.S468L NM_014618 NP_055433 O60477 DBC1_HUMAN Homo sapiens deleted in bladder cancer 1 (DBC1), mRNA. 468 cell cycle arrest|cell death cytoplasm protein binding NS(1)|breast(3)|central_nervous_system(3)|endometrium(8)|kidney(2)|large_intestine(15)|liver(1)|lung(34)|ovary(3)|prostate(3)|skin(4)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(1) 83 GCTCCGCTCCGAGTCCACGTT 0.587000 17 18 0 0 0.00152264 0 0 C15orf53 400359 broad.mit.edu 37 15 38990679 38990679 + Missense_Mutation SNP G A A TCGA-EE-A3AC-06A-11D-A196-08 TCGA-EE-A3AC-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 883d623b-c427-4444-9ee3-66d18648130f f8f00311-8db5-4187-bcb8-5054d9fbdac3 g.chr15:38990679G>A uc001zkf.1 + 1 483 c.473G>A c.(472-474)aGg>aAg p.R158K NM_207444 NP_997327 Q8NAA6 CO053_HUMAN Homo sapiens chromosome 15 open reading frame 53 (C15orf53), mRNA. 158 endometrium(1)|large_intestine(1)|lung(2)|skin(1)|stomach(1) 6 all_cancers(109;1.75e-13)|all_epithelial(112;1.02e-11)|Lung NSC(122;1.9e-09)|all_lung(180;4.04e-08)|Melanoma(134;0.091)|Colorectal(260;0.198) GBM - Glioblastoma multiforme(113;8.39e-08)|BRCA - Breast invasive adenocarcinoma(123;0.0321) TCCACCAGGAGGAGAGCATGC 0.547000 11 4 0 0 0.000602214 0 0 OBSCN 84033 broad.mit.edu 37 1 228505743 228505743 + Missense_Mutation SNP G A A TCGA-EE-A3AC-06A-11D-A196-08 TCGA-EE-A3AC-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 883d623b-c427-4444-9ee3-66d18648130f f8f00311-8db5-4187-bcb8-5054d9fbdac3 g.chr1:228505743G>A uc009xez.1 + 52 14044 c.14000G>A c.(13999-14001)gGg>gAg p.G4667E OBSCN_uc001hsn.3_Missense_Mutation_p.G4667E NM_001098623 NP_001092093 Q5VST9 OBSCN_HUMAN Homo sapiens obscurin, cytoskeletal calmodulin and titin-interacting RhoGEF (OBSCN), transcript variant 2, mRNA. 4667 Ig-like 47. 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 M band|Z disc|cytosol ATP binding|Rho guanyl-nucleotide exchange factor activity|metal ion binding|protein binding|protein serine/threonine kinase activity|protein tyrosine kinase activity|structural constituent of muscle|titin binding p.A4667A(1) 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) CAGCCCGGTGGGCGGTTCGAG 0.627000 129 48 0 0 0.000781405 0 0 CHERP 10523 broad.mit.edu 37 19 16641485 16641485 + Splice_Site SNP G A A TCGA-EE-A3AC-06A-11D-A196-08 TCGA-EE-A3AC-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 883d623b-c427-4444-9ee3-66d18648130f f8f00311-8db5-4187-bcb8-5054d9fbdac3 g.chr19:16641485G>A uc002nei.1 - 7 861 c.787_splice c.e7-1 p.L263_splice MED26_uc002nee.2_Intron NM_006387 NP_006378 Q8IWX8 CHERP_HUMAN Homo sapiens calcium homeostasis endoplasmic reticulum protein (CHERP), mRNA. 263 CID. RNA processing|cellular calcium ion homeostasis|negative regulation of cell proliferation|nervous system development endoplasmic reticulum|perinuclear region of cytoplasm RNA binding endometrium(3)|kidney(2)|large_intestine(4)|lung(9)|ovary(2)|stomach(1)|urinary_tract(3) 24 AGCTGCAGGAGCTGGCGGTGG 0.662000 37 14 0 0 0.000219431 0 0 HSF5 124535 broad.mit.edu 37 17 56544271 56544271 + Missense_Mutation SNP G A A TCGA-EE-A3AC-06A-11D-A196-08 TCGA-EE-A3AC-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 883d623b-c427-4444-9ee3-66d18648130f f8f00311-8db5-4187-bcb8-5054d9fbdac3 g.chr17:56544271G>A uc002iwi.1 - 2 1119 c.995C>T c.(994-996)tCc>tTc p.S332F NM_001080439 NP_001073908 Q4G112 HSF5_HUMAN Homo sapiens heat shock transcription factor family member 5 (HSF5), mRNA. 332 nucleus sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(7)|ovary(3)|skin(1) 16 Medulloblastoma(34;0.127)|all_neural(34;0.237) GTGTGCATAGGAAGAGGCATT 0.438000 67 77 0 0 0.000781405 0 0 BMP2 650 broad.mit.edu 37 20 6759677 6759677 + Missense_Mutation SNP G A A TCGA-EE-A3AC-06A-11D-A196-08 TCGA-EE-A3AC-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 883d623b-c427-4444-9ee3-66d18648130f f8f00311-8db5-4187-bcb8-5054d9fbdac3 g.chr20:6759677G>A uc002wmu.1 + 2 1917 c.1132G>A c.(1132-1134)Gaa>Aaa p.E378K NM_001200 NP_001191 P12643 BMP2_HUMAN Homo sapiens bone morphogenetic protein 2 (BMP2), mRNA. 378 BMP signaling pathway involved in heart induction|SMAD protein signal transduction|bone mineralization involved in bone maturation|cardiac cell differentiation|cardiac epithelial to mesenchymal transition|cartilage development|growth|negative regulation of cell cycle|negative regulation of cell proliferation|negative regulation of transcription from RNA polymerase II promoter|osteoblast differentiation|pathway-restricted SMAD protein phosphorylation|positive regulation of apoptosis|positive regulation of bone mineralization|positive regulation of cartilage development|positive regulation of endothelial cell proliferation|positive regulation of osteoblast differentiation|positive regulation of pathway-restricted SMAD protein phosphorylation|positive regulation of phosphatase activity|positive regulation of transcription from RNA polymerase II promoter extracellular space BMP receptor binding|SMAD binding|activin receptor activity, type II|cytokine activity|growth factor activity|phosphatase activator activity|protein heterodimerization activity|transforming growth factor beta receptor binding breast(1)|endometrium(1)|kidney(2)|large_intestine(3)|lung(5)|ovary(1) 13 Simvastatin(DB00641) TGACGAGAATGAAAAGGTTGT 0.383000 38 31 0 0 0.00111076 0 0 SCN11A 11280 broad.mit.edu 37 3 38991643 38991643 + Missense_Mutation SNP G A A TCGA-EE-A3AC-06A-11D-A196-08 TCGA-EE-A3AC-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 883d623b-c427-4444-9ee3-66d18648130f f8f00311-8db5-4187-bcb8-5054d9fbdac3 g.chr3:38991643G>A uc021wvy.1 - 0 410 c.211C>T c.(211-213)Cgt>Tgt p.R71C NM_014139 NP_054858 Q9UI33 SCNBA_HUMAN Homo sapiens sodium channel, voltage-gated, type XI, alpha subunit (SCN11A), mRNA. 71 response to drug voltage-gated sodium channel complex voltage-gated sodium channel activity NS(3)|biliary_tract(1)|breast(4)|cervix(2)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(29)|lung(29)|ovary(3)|pancreas(2)|prostate(12)|skin(14)|upper_aerodigestive_tract(5)|urinary_tract(3) 119 Kidney(284;0.00202)|KIRC - Kidney renal clear cell carcinoma(284;0.00226) Cocaine(DB00907) ATGAGCTCACGAGGAATGTCG 0.552000 103 46 0 0 0.000781405 0 0 JAK2 3717 broad.mit.edu 37 9 5064921 5064921 + Silent SNP C T T rs140973912 TCGA-EE-A3AC-06A-11D-A196-08 TCGA-EE-A3AC-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 883d623b-c427-4444-9ee3-66d18648130f f8f00311-8db5-4187-bcb8-5054d9fbdac3 g.chr9:5064921C>T uc010mhm.3 + 7 1208 c.1095C>T c.(1093-1095)ttC>ttT p.F365F JAK2_uc003ziw.3_Silent_p.F365F NM_004972 NP_004963 O60674 JAK2_HUMAN Homo sapiens Janus kinase 2 (JAK2), mRNA. 365 FERM. JAK-STAT cascade involved in growth hormone signaling pathway|STAT protein import into nucleus|actin filament polymerization|activation of JAK2 kinase activity|activation of caspase activity by protein phosphorylation|blood coagulation|cellular component movement|erythrocyte differentiation|interferon-gamma-mediated signaling pathway|interleukin-12-mediated signaling pathway|mammary gland epithelium development|mesoderm development|negative regulation of DNA binding|negative regulation of cell proliferation|positive regulation of apoptosis|positive regulation of cell-substrate adhesion|positive regulation of growth hormone receptor signaling pathway|positive regulation of nitric-oxide synthase 2 biosynthetic process|positive regulation of phosphatidylinositol 3-kinase cascade|positive regulation of tumor necrosis factor production|positive regulation of tyrosine phosphorylation of Stat3 protein|positive regulation of tyrosine phosphorylation of Stat5 protein|protein autophosphorylation|regulation of inflammatory response|regulation of interferon-gamma-mediated signaling pathway|response to antibiotic|response to lipopolysaccharide|tumor necrosis factor-mediated signaling pathway|tyrosine phosphorylation of STAT protein caveola|cytoskeleton|cytosol|endomembrane system|nucleus ATP binding|SH2 domain binding|growth hormone receptor binding|heme binding|histone binding|histone kinase activity (H3-Y41 specific)|interleukin-12 receptor binding|non-membrane spanning protein tyrosine kinase activity|protein kinase binding BCR/JAK2(6)|SSBP2/JAK2(4)|SEC31A/JAK2(4)|ETV6/JAK2(11)|PCM1/JAK2(30)|PAX5/JAK2(18) breast(5)|endometrium(4)|haematopoietic_and_lymphoid_tissue(32944)|kidney(4)|large_intestine(10)|liver(1)|lung(20)|ovary(3)|prostate(4)|skin(2)|urinary_tract(1) 32998 all_hematologic(13;0.137) Acute lymphoblastic leukemia(23;0.0198)|Breast(48;0.147) GBM - Glioblastoma multiforme(50;0.0237)|Lung(218;0.133) CTTTGTCTTTCGTGTCATTAA 0.348000 1 """T, Mis, O""" """ETV6, PCM1, BCR""" """ALL, AML, MPD, CML""" Polycythemia Vera, Familial 65 31 0 0 0.00111076 0 0 ANKRD12 23253 broad.mit.edu 37 18 9258459 9258459 + Missense_Mutation SNP C T T TCGA-EE-A3AC-06A-11D-A196-08 TCGA-EE-A3AC-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 883d623b-c427-4444-9ee3-66d18648130f f8f00311-8db5-4187-bcb8-5054d9fbdac3 g.chr18:9258459C>T uc002knv.3 + 8 5458 c.5194C>T c.(5194-5196)Cct>Tct p.P1732S ANKRD12_uc002knw.3_Missense_Mutation_p.P1709S|ANKRD12_uc002knx.3_Missense_Mutation_p.P1709S|ANKRD12_uc010dkx.1_Missense_Mutation_p.P1439S NM_015208 NP_056023 Q6UB98 ANR12_HUMAN Homo sapiens ankyrin repeat domain 12 (ANKRD12), transcript variant 1, mRNA. 1732 nucleus NS(1)|breast(3)|central_nervous_system(2)|endometrium(8)|kidney(2)|large_intestine(20)|lung(18)|ovary(3)|pancreas(1)|prostate(4)|skin(1)|urinary_tract(2) 65 AAACCAAATCCCTCAAAGAAT 0.343000 18 8 0 0 0.000978159 0 0 CDSN 1041 broad.mit.edu 37 6 31083847 31083847 + Silent SNP G A A TCGA-EE-A3AC-06A-11D-A196-08 TCGA-EE-A3AC-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 883d623b-c427-4444-9ee3-66d18648130f f8f00311-8db5-4187-bcb8-5054d9fbdac3 g.chr6:31083847G>A uc003nsm.2 - 1 1601 c.1545C>T c.(1543-1545)gaC>gaT p.D515D PSORS1C1_uc003nsl.2_Intron|PSORS1C1_uc010jsj.2_Intron NM_001264 NP_001255 Q15517 CDSN_HUMAN Homo sapiens corneodesmosin (CDSN), mRNA. 515 cell-cell adhesion|keratinocyte differentiation|skin morphogenesis cornified envelope|desmosome|extracellular region protein homodimerization activity central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(3)|ovary(1)|pancreas(1) 10 AAACTTCAGGGTCAGCTAGCT 0.542000 29 15 0 0 0.000308642 0 0 AKAP9 10142 broad.mit.edu 37 7 91712547 91712547 + Missense_Mutation SNP G A A TCGA-EE-A3AC-06A-11D-A196-08 TCGA-EE-A3AC-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 883d623b-c427-4444-9ee3-66d18648130f f8f00311-8db5-4187-bcb8-5054d9fbdac3 g.chr7:91712547G>A uc003ulg.3 + 32 8449 c.8224G>A c.(8224-8226)Gag>Aag p.E2742K AKAP9_uc003ulf.3_Missense_Mutation_p.E2734K|AKAP9_uc003uli.3_Missense_Mutation_p.E2365K|AKAP9_uc003ulj.3_Missense_Mutation_p.E512K|AKAP9_uc003ulk.3_Missense_Mutation_p.E17K NM_005751 NP_005742 Q99996 AKAP9_HUMAN Homo sapiens A kinase (PRKA) anchor protein (yotiao) 9 (AKAP9), transcript variant 2, mRNA. 2754 Glu-rich. G2/M transition of mitotic cell cycle|signal transduction|synaptic transmission|transport Golgi apparatus|centrosome|cytosol receptor binding NS(1)|autonomic_ganglia(2)|breast(14)|central_nervous_system(3)|cervix(1)|endometrium(13)|kidney(12)|large_intestine(35)|lung(49)|ovary(8)|prostate(6)|skin(8)|stomach(1)|urinary_tract(2) 155 all_cancers(62;2.46e-09)|all_epithelial(64;4.42e-08)|Breast(17;0.00206)|all_lung(186;0.185)|all_hematologic(106;0.215)|Lung NSC(181;0.249) STAD - Stomach adenocarcinoma(171;6.16e-05)|Lung(22;0.123)|LUSC - Lung squamous cell carcinoma(200;0.225) TCACCTCGCAGAGGCAAAAGA 0.378000 T BRAF papillary thyroid 28 23 0 0 0.000720815 0 0 EMR3 84658 broad.mit.edu 37 19 14772823 14772823 + Missense_Mutation SNP G A A TCGA-EE-A3AC-06A-11D-A196-08 TCGA-EE-A3AC-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 883d623b-c427-4444-9ee3-66d18648130f f8f00311-8db5-4187-bcb8-5054d9fbdac3 g.chr19:14772823G>A uc002mzi.4 - 3 455 c.307C>T c.(307-309)Cat>Tat p.H103Y EMR3_uc010dzp.3_Intron|EMR3_uc010xnv.2_Intron NM_032571 NP_115960 Q9BY15 EMR3_HUMAN Homo sapiens egf-like module containing, mucin-like, hormone receptor-like 3 (EMR3), mRNA. 103 EGF-like 2; calcium-binding (Potential). neuropeptide signaling pathway extracellular space|integral to membrane|plasma membrane G-protein coupled receptor activity|calcium ion binding NS(1)|autonomic_ganglia(1)|breast(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(12)|lung(14)|ovary(7)|prostate(2)|skin(4)|upper_aerodigestive_tract(1) 50 TTCCCAGAATGCAGTCTATAT 0.398000 40 24 0 0 0.00047179 0 0 CCDC170 80129 broad.mit.edu 37 6 151894487 151894487 + Missense_Mutation SNP C T T TCGA-EE-A3AC-06A-11D-A196-08 TCGA-EE-A3AC-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 883d623b-c427-4444-9ee3-66d18648130f f8f00311-8db5-4187-bcb8-5054d9fbdac3 g.chr6:151894487C>T uc003qol.3 + 5 1042 c.953C>T c.(952-954)aCc>aTc p.T318I NM_025059 NP_079335 Q8IYT3 CF097_HUMAN Homo sapiens chromosome 6 open reading frame 97 (C6orf97), mRNA. 318 GCAGTCACAACCTCACAAAGC 0.507000 15 29 0 0 0.000692331 0 0 RDM1 201299 broad.mit.edu 37 17 34249679 34249679 + Splice_Site SNP C T T TCGA-EE-A3AC-06A-11D-A196-08 TCGA-EE-A3AC-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 883d623b-c427-4444-9ee3-66d18648130f f8f00311-8db5-4187-bcb8-5054d9fbdac3 g.chr17:34249679C>T uc002hkh.3 - 5 618 c.569_splice c.e5-1 p.G190_splice RDM1_uc010cty.3_Intron|RDM1_uc010ctz.3_Intron|RDM1_uc010cua.3_Splice_Site_p.G167_splice|RDM1_uc002hkg.4_Intron|RDM1_uc010cub.3_Splice_Site|RDM1_uc010cuf.3_Splice_Site|RDM1_uc010cue.3_Splice_Site|RDM1_uc010cug.3_Intron|RDM1_uc010cuc.3_Intron|RDM1_uc010cud.3_Intron|RDM1_uc010wco.2_Splice_Site_p.D111_splice|RDM1_uc010wcp.2_Splice_Site_p.G167_splice|RDM1_uc002hki.3_Splice_Site_p.G190_splice NM_145654 NP_663629 Q8NG50 RDM1_HUMAN Homo sapiens RAD52 motif 1 (RDM1), transcript variant 1, mRNA. 190 DNA recombination|DNA repair Cajal body|PML body|cytoplasm|nucleolus DNA binding|RNA binding|nucleotide binding breast(1)|kidney(3)|large_intestine(2)|ovary(1)|skin(1)|stomach(1) 9 Ovarian(249;0.17) UCEC - Uterine corpus endometrioid carcinoma (308;0.0185) TGATAATGGTCCTAAATCCAA 0.348000 Other identified genes with known or suspected DNA repair function 169 50 0 0 0.000781405 0 0 COIL 8161 broad.mit.edu 37 17 55027331 55027331 + Silent SNP G A A TCGA-EE-A3AC-06A-11D-A196-08 TCGA-EE-A3AC-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 883d623b-c427-4444-9ee3-66d18648130f f8f00311-8db5-4187-bcb8-5054d9fbdac3 g.chr17:55027331G>A uc002iuu.3 - 1 1303 c.1272C>T c.(1270-1272)tcC>tcT p.S424S NM_004645 NP_004636 P38432 COIL_HUMAN Homo sapiens coilin (COIL), mRNA. 424 2 X 4 AA repeats of S-L-P-A. Cajal body|nucleolus protein C-terminus binding p.S424S(2) NS(1)|endometrium(4)|kidney(1)|large_intestine(1)|lung(4)|ovary(1)|prostate(2)|urinary_tract(1) 15 Breast(9;6.15e-08) TTACAACACAGGAAACAGGAT 0.443000 99 35 0 0 0.000692331 0 0 EPHA6 285220 broad.mit.edu 37 3 96962891 96962891 + Missense_Mutation SNP G A A TCGA-EE-A3AC-06A-11D-A196-08 TCGA-EE-A3AC-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 883d623b-c427-4444-9ee3-66d18648130f f8f00311-8db5-4187-bcb8-5054d9fbdac3 g.chr3:96962891G>A uc010how.1 + 4 1409 c.1366G>A c.(1366-1368)Gat>Aat p.D456N EPHA6_uc003drp.1_Missense_Mutation_p.D456N NM_001080448 NP_001073917 Q9UF33 EPHA6_HUMAN Homo sapiens EPH receptor A6 (EPHA6), transcript variant 1, mRNA. 361 Fibronectin type-III 2. integral to plasma membrane ATP binding|ephrin receptor activity NS(1)|breast(1)|central_nervous_system(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(6)|liver(2)|lung(60)|ovary(3)|skin(11)|stomach(5)|upper_aerodigestive_tract(2) 101 AGGGAGAAAAGATCTCACATA 0.478000 6 9 0 0 0.000442599 0 0 PPYR1 5540 broad.mit.edu 37 10 47087528 47087528 + Missense_Mutation SNP C T T TCGA-EE-A3AC-06A-11D-A196-08 TCGA-EE-A3AC-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 883d623b-c427-4444-9ee3-66d18648130f f8f00311-8db5-4187-bcb8-5054d9fbdac3 g.chr10:47087528C>T uc001jee.3 + 2 1164 c.745C>T c.(745-747)Cac>Tac p.H249Y ANXA8L1_uc001jed.4_Intron|PPYR1_uc009xna.3_Missense_Mutation_p.H249Y|PPYR1_uc021ppu.1_Missense_Mutation_p.H249Y NM_005972 NP_005963 P50391 NPY4R_HUMAN Homo sapiens pancreatic polypeptide receptor 1 (PPYR1), mRNA. 249 blood circulation|digestion|feeding behavior integral to plasma membrane NS(1)|breast(2)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(12)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1) 26 GCGCGTGTTTCACAAGGGCAC 0.602000 95 22 0 0 0.000878237 0 0 MRPS14 63931 broad.mit.edu 37 1 174987584 174987584 + Silent SNP C T T TCGA-EE-A3AC-06A-11D-A196-08 TCGA-EE-A3AC-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 883d623b-c427-4444-9ee3-66d18648130f f8f00311-8db5-4187-bcb8-5054d9fbdac3 g.chr1:174987584C>T uc001gkk.3 - 1 221 c.174G>A c.(172-174)agG>agA p.R58R MRPS14_uc009wwr.3_Silent_p.R43R NM_022100 NP_071383 O60783 RT14_HUMAN Homo sapiens mitochondrial ribosomal protein S14 (MRPS14), nuclear gene encoding mitochondrial protein, transcript variant 1, mRNA. 58 translation mitochondrial ribosome protein binding|structural constituent of ribosome large_intestine(2)|lung(5)|pancreas(1)|prostate(2) 10 TGGTATTCTTCCTGAGTGAAT 0.388000 166 67 0 0 0.000781405 0 0 IKBKAP 8518 broad.mit.edu 37 9 111658840 111658840 + Missense_Mutation SNP T G G TCGA-EE-A3AC-06A-11D-A196-08 TCGA-EE-A3AC-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 883d623b-c427-4444-9ee3-66d18648130f f8f00311-8db5-4187-bcb8-5054d9fbdac3 g.chr9:111658840T>G uc004bdm.4 - 24 3192 c.2672A>C c.(2671-2673)tAt>tCt p.Y891S IKBKAP_uc004bdl.3_Missense_Mutation_p.Y542S|IKBKAP_uc011lwc.2_Missense_Mutation_p.Y777S|IKBKAP_uc010mtq.3_Missense_Mutation_p.Y542S NM_003640 NP_003631 O95163 ELP1_HUMAN Homo sapiens inhibitor of kappa light polypeptide gene enhancer in B-cells, kinase complex-associated protein (IKBKAP), mRNA. 891 immune response|protein complex assembly|regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent DNA-directed RNA polymerase II, holoenzyme|cytoplasm|nucleolus|transcription elongation factor complex phosphorylase kinase regulator activity|protein binding|signal transducer activity NS(2)|breast(3)|central_nervous_system(1)|cervix(2)|endometrium(5)|kidney(7)|large_intestine(4)|lung(13)|ovary(2)|pancreas(1)|prostate(5)|skin(2)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(2) 53 AGAATGATCATATAATTCATT 0.403000 26 12 0 0 0.000978159 0 0 FBXO47 494188 broad.mit.edu 37 17 37118295 37118296 + Missense_Mutation DNP CC TT TT TCGA-EE-A3AC-06A-11D-A196-08 TCGA-EE-A3AC-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 883d623b-c427-4444-9ee3-66d18648130f f8f00311-8db5-4187-bcb8-5054d9fbdac3 g.chr17:37118295_37118296CC>TT uc002hrc.2 - 2 386_387 c.186_187GG>AA c.(184-189)aaggat>aaAAat p.D63N NM_001008777 NP_001008777 Q5MNV8 FBX47_HUMAN Homo sapiens F-box protein 47 (FBXO47), mRNA. 63 F-box. NS(1)|breast(1)|endometrium(1)|large_intestine(5)|lung(9)|ovary(1)|prostate(1)|skin(1) 20 ATGCTGATATCCTTCACTACCA 0.342000 90 25 0 0 6.4e-05 0 0 FGD5 152273 broad.mit.edu 37 3 14905750 14905750 + Missense_Mutation SNP C T T TCGA-EE-A3AC-06A-11D-A196-08 TCGA-EE-A3AC-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 883d623b-c427-4444-9ee3-66d18648130f f8f00311-8db5-4187-bcb8-5054d9fbdac3 g.chr3:14905750C>T uc003bzc.3 + 1 2751 c.2641C>T c.(2641-2643)Ccc>Tcc p.P881S FGD5_uc011avk.2_Missense_Mutation_p.P881S NM_152536 NP_689749 Q6ZNL6 FGD5_HUMAN Homo sapiens FYVE, RhoGEF and PH domain containing 5 (FGD5), mRNA. 881 actin cytoskeleton organization|filopodium assembly|regulation of Cdc42 GTPase activity|regulation of cell shape Golgi apparatus|cytoskeleton|lamellipodium|ruffle Rho guanyl-nucleotide exchange factor activity|metal ion binding|small GTPase binding p.P881T(1)|p.P640T(1) NS(2)|breast(2)|endometrium(3)|kidney(5)|large_intestine(10)|lung(25)|ovary(3)|pancreas(1)|prostate(2)|urinary_tract(1) 54 TTCAAGAGACCCCAGTGTCAC 0.587000 40 23 0 0 0.00106085 0 0 KCNJ6 3763 broad.mit.edu 37 21 39087096 39087096 + Missense_Mutation SNP C T T TCGA-EE-A3AC-06A-11D-A196-08 TCGA-EE-A3AC-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 883d623b-c427-4444-9ee3-66d18648130f f8f00311-8db5-4187-bcb8-5054d9fbdac3 g.chr21:39087096C>T uc011aej.1 - 2 417 c.364G>A c.(364-366)Gac>Aac p.D122N KCNJ6_uc002ywo.2_Missense_Mutation_p.D122N NM_002240 NP_002231 P48051 IRK6_HUMAN Homo sapiens potassium inwardly-rectifying channel, subfamily J, member 6 (KCNJ6), mRNA. 122 synaptic transmission Golgi apparatus|voltage-gated potassium channel complex G-protein activated inward rectifier potassium channel activity|protein binding breast(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(9)|ovary(1)|prostate(1)|skin(3)|urinary_tract(1) 22 Halothane(DB01159) TCTATGTGGTCCATGTCTCCC 0.448000 50 29 0 0 0.001512 0 0 CFI 3426 broad.mit.edu 37 4 110662205 110662205 + Missense_Mutation SNP C T T TCGA-EE-A3AC-06A-11D-A196-08 TCGA-EE-A3AC-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 883d623b-c427-4444-9ee3-66d18648130f f8f00311-8db5-4187-bcb8-5054d9fbdac3 g.chr4:110662205C>T uc011cft.2 - 13 1828 c.1620G>A c.(1618-1620)atG>atA p.M540I CFI_uc003hzq.3_Missense_Mutation_p.M329I|CFI_uc003hzr.4_Missense_Mutation_p.M532I NM_000204 NP_000195 P05156 CFAI_HUMAN Homo sapiens complement factor I (CFI), mRNA. 532 Peptidase S1. complement activation, classical pathway|innate immune response|proteolysis extracellular space|membrane scavenger receptor activity|serine-type endopeptidase activity breast(1)|endometrium(3)|kidney(2)|large_intestine(7)|lung(11)|skin(2)|stomach(1) 27 Hepatocellular(203;0.217) OV - Ovarian serous cystadenocarcinoma(123;0.000331) TGTTGGCATCCATACAGACTA 0.443000 113 64 0 0 0.000781405 0 0 OR4P4 81300 broad.mit.edu 37 11 55406121 55406121 + Missense_Mutation SNP G A A TCGA-EE-A3AC-06A-11D-A196-08 TCGA-EE-A3AC-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 883d623b-c427-4444-9ee3-66d18648130f f8f00311-8db5-4187-bcb8-5054d9fbdac3 g.chr11:55406121G>A uc010rij.2 + 0 288 c.288G>A c.(286-288)atG>atA p.M96I NM_001004124 NP_001004124 Q8NGL7 OR4P4_HUMAN Homo sapiens olfactory receptor, family 4, subfamily P, member 4 (OR4P4), mRNA. 96 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity p.C95S(1) autonomic_ganglia(1)|central_nervous_system(1)|kidney(4)|large_intestine(4)|lung(28)|ovary(1)|upper_aerodigestive_tract(1) 40 ATAACTGTATGATACAACTCT 0.448000 43 31 0 0 0.000491102 0 0 KCNA2 3737 broad.mit.edu 37 1 111146504 111146504 + Missense_Mutation SNP C T T TCGA-EE-A3AC-06A-11D-A196-08 TCGA-EE-A3AC-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 883d623b-c427-4444-9ee3-66d18648130f f8f00311-8db5-4187-bcb8-5054d9fbdac3 g.chr1:111146504C>T uc021oro.1 - 0 901 c.901G>A c.(901-903)Gtc>Atc p.V301I KCNA2_uc009wfv.2_Intron|KCNA2_uc009wfw.3_Missense_Mutation_p.V301I NM_004974 NP_004965 P16389 KCNA2_HUMAN Homo sapiens potassium voltage-gated channel, shaker-related subfamily, member 2 (KCNA2), transcript variant 1, mRNA. 301 juxtaparanode region of axon|voltage-gated potassium channel complex delayed rectifier potassium channel activity endometrium(1)|kidney(1)|large_intestine(6)|liver(1)|lung(18)|ovary(1)|prostate(1)|skin(2)|urinary_tract(1) 32 all_cancers(81;5.55e-06)|all_epithelial(167;1.87e-05)|all_lung(203;0.000199)|Lung NSC(277;0.000398) Colorectal(144;0.00878)|Lung(183;0.0234)|all cancers(265;0.0492)|Epithelial(280;0.0529)|COAD - Colon adenocarcinoma(174;0.131)|LUSC - Lung squamous cell carcinoma(189;0.133)|READ - Rectum adenocarcinoma(129;0.191) ATCCTAAAGACTCTTACCAAC 0.527000 54 32 0 0 0.00178596 0 0 OR10Z1 128368 broad.mit.edu 37 1 158576808 158576808 + Missense_Mutation SNP C T T TCGA-EE-A3AC-06A-11D-A196-08 TCGA-EE-A3AC-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 883d623b-c427-4444-9ee3-66d18648130f f8f00311-8db5-4187-bcb8-5054d9fbdac3 g.chr1:158576808C>T uc010pio.2 + 0 580 c.580C>T c.(580-582)Ccg>Tcg p.P194S NM_001004478 NP_001004478 Q8NGY1 O10Z1_HUMAN Homo sapiens olfactory receptor, family 10, subfamily Z, member 1 (OR10Z1), mRNA. 194 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity p.P194P(1) endometrium(2)|large_intestine(6)|lung(21)|pancreas(1)|prostate(3)|skin(4) 37 all_hematologic(112;0.0378) AGATACAGGCCCGAGTGAGCT 0.488000 36 15 0 0 0.00074312 0 0 BC128131 0 broad.mit.edu 37 19 23159540 23159540 + Missense_Mutation SNP G A A TCGA-EE-A3AC-06A-11D-A196-08 TCGA-EE-A3AC-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 883d623b-c427-4444-9ee3-66d18648130f f8f00311-8db5-4187-bcb8-5054d9fbdac3 g.chr19:23159540G>A uc002nqz.1 - 1 433 c.407C>T c.(406-408)tCc>tTc p.S136F BC128131_uc002nqy.1_Non-coding_Transcript Homo sapiens zinc finger protein 117, mRNA (cDNA clone IMAGE:40112371). ACTTTTGTAGGAATTCTCTCT 0.348000 11 5 0 0 0.000602214 0 0 TDRD5 163589 broad.mit.edu 37 1 179564890 179564890 + Missense_Mutation SNP A T T TCGA-EE-A3AC-06A-11D-A196-08 TCGA-EE-A3AC-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 883d623b-c427-4444-9ee3-66d18648130f f8f00311-8db5-4187-bcb8-5054d9fbdac3 g.chr1:179564890A>T uc010pnp.2 + 3 1286 c.768A>T c.(766-768)gaA>gaT p.E256D TDRD5_uc021pfm.1_Missense_Mutation_p.E256D|TDRD5_uc001gnf.2_Missense_Mutation_p.E256D|TDRD5_uc021pfn.1_Missense_Mutation_p.E256D NM_001199085 NP_001186014 Q8NAT2 TDRD5_HUMAN Homo sapiens tudor domain containing 5 (TDRD5), transcript variant 1, mRNA. 256 DNA methylation involved in gamete generation|P granule organization|spermatid development chromatoid body|pi-body nucleic acid binding NS(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(7)|lung(44)|ovary(2)|prostate(1)|skin(9)|stomach(1)|upper_aerodigestive_tract(2) 77 TGAGCATGGAAAAGACTTCCA 0.393000 84 26 0 0 0.0024448 0 0 LPHN2 23266 broad.mit.edu 37 1 82409110 82409110 + Missense_Mutation SNP G A A TCGA-EE-A3AC-06A-11D-A196-08 TCGA-EE-A3AC-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 883d623b-c427-4444-9ee3-66d18648130f f8f00311-8db5-4187-bcb8-5054d9fbdac3 g.chr1:82409110G>A uc001dit.4 + 5 1036 c.855G>A c.(853-855)atG>atA p.M285I LPHN2_uc001dis.3_Intron|LPHN2_uc001diu.3_Missense_Mutation_p.M285I|LPHN2_uc001div.3_Missense_Mutation_p.M285I|LPHN2_uc009wcd.3_Missense_Mutation_p.M285I NM_012302 NP_036434 O95490 LPHN2_HUMAN Homo sapiens latrophilin 2 (LPHN2), mRNA. 285 Olfactomedin-like. neuropeptide signaling pathway integral to membrane|plasma membrane G-protein coupled receptor activity|latrotoxin receptor activity|sugar binding NS(3)|breast(6)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(18)|liver(2)|lung(37)|ovary(3)|pancreas(1)|prostate(3)|skin(22)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(5) 119 all cancers(265;0.00142)|Epithelial(280;0.00829)|OV - Ovarian serous cystadenocarcinoma(397;0.077)|STAD - Stomach adenocarcinoma(256;0.248) ACAATGGAATGATAGTTATTA 0.423000 17 14 0 0 0.00185496 0 0 CACNA1A 773 broad.mit.edu 37 19 13423558 13423559 + Missense_Mutation DNP GG AA AA TCGA-EE-A3AC-06A-11D-A196-08 TCGA-EE-A3AC-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 883d623b-c427-4444-9ee3-66d18648130f f8f00311-8db5-4187-bcb8-5054d9fbdac3 g.chr19:13423558_13423559GG>AA uc002mwy.3 - 11 1828_1829 c.1592_1593CC>TT c.(1591-1593)tcc>tTT p.S531F CACNA1A_uc010dzc.2_Missense_Mutation_p.S57F|CACNA1A_uc010xnd.2_Missense_Mutation_p.S531F|CACNA1A_uc021ups.1_Missense_Mutation_p.S531F|CACNA1A_uc010xne.2_Missense_Mutation_p.S531F|CACNA1A_uc010dze.2_Missense_Mutation_p.S531F|CACNA1A_uc021upt.1_Missense_Mutation_p.S532F NM_001127222 NP_001120694 O00555 CAC1A_HUMAN Homo sapiens calcium channel, voltage-dependent, P/Q type, alpha 1A subunit (CACNA1A), transcript variant 4, mRNA. 532 cell death|elevation of cytosolic calcium ion concentration|energy reserve metabolic process|membrane depolarization|regulation of insulin secretion cytoplasm|nucleus syntaxin binding breast(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(25)|prostate(2)|urinary_tract(1) 42 OV - Ovarian serous cystadenocarcinoma(19;5.07e-21) Bepridil(DB01244)|Cinnarizine(DB00568)|Loperamide(DB00836)|Nisoldipine(DB00401)|Pregabalin(DB00230) TAAACATTTCGGACATAAAGAG 0.460000 57 29 0 0 6.4e-05 0 0 XIST 7503 broad.mit.edu 37 X 73070714 73070714 + RNA SNP G A A TCGA-EE-A3AC-06A-11D-A196-08 TCGA-EE-A3AC-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 883d623b-c427-4444-9ee3-66d18648130f f8f00311-8db5-4187-bcb8-5054d9fbdac3 g.chrX:73070714G>A uc004ebm.1 - 0 c.1875C>T Homo sapiens X (inactive)-specific transcript (non-protein coding) (XIST), non-coding RNA. GGACAGGAGGGGACAAATAAG 0.527000 2 6 0 0 0.00116845 0 0 SCN11A 11280 broad.mit.edu 37 3 38892117 38892117 + Missense_Mutation SNP C T T TCGA-EE-A3AC-06A-11D-A196-08 TCGA-EE-A3AC-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 883d623b-c427-4444-9ee3-66d18648130f f8f00311-8db5-4187-bcb8-5054d9fbdac3 g.chr3:38892117C>T uc021wvy.1 - 24 4381 c.4182G>A c.(4180-4182)atG>atA p.M1394I SCN11A_uc003cis.1_Missense_Mutation_p.M59I NM_014139 NP_054858 Q9UI33 SCNBA_HUMAN Homo sapiens sodium channel, voltage-gated, type XI, alpha subunit (SCN11A), mRNA. 1394 response to drug voltage-gated sodium channel complex voltage-gated sodium channel activity NS(3)|biliary_tract(1)|breast(4)|cervix(2)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(29)|lung(29)|ovary(3)|pancreas(2)|prostate(12)|skin(14)|upper_aerodigestive_tract(5)|urinary_tract(3) 119 Kidney(284;0.00202)|KIRC - Kidney renal clear cell carcinoma(284;0.00226) Cocaine(DB00907) GGATGGATTTCATGGCTTTGG 0.388000 58 29 0 0 0.00178596 0 0 CCDC78 124093 broad.mit.edu 37 16 775518 775518 + Silent SNP G A A TCGA-EE-A3AC-06A-11D-A196-08 TCGA-EE-A3AC-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 883d623b-c427-4444-9ee3-66d18648130f f8f00311-8db5-4187-bcb8-5054d9fbdac3 g.chr16:775518G>A uc002cjg.3 - 3 436 c.330C>T c.(328-330)ggC>ggT p.G110G CCDC78_uc002cjh.3_5'UTR|CCDC78_uc002cji.3_Silent_p.G184G|CCDC78_uc002cjj.3_Intron|CCDC78_uc010uuo.1_Silent_p.G110G|CCDC78_uc002cjk.2_Silent_p.G110G|HAGHL_uc002cjl.1_5'Flank|HAGHL_uc002cjn.1_5'Flank|HAGHL_uc002cjo.1_5'Flank|HAGHL_uc010uup.1_5'Flank NM_001031737 NP_001026907 A2IDD5 CCD78_HUMAN Homo sapiens coiled-coil domain containing 78 (CCDC78), mRNA. 110 p.Q109K(1) central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(1)|lung(2)|skin(3) 9 Hepatocellular(780;0.0218) GGACTGCACAGCCCTGGCTGG 0.637000 19 17 0 0 0.000958276 0 0 TAF1 6872 broad.mit.edu 37 X 70683700 70683700 + Missense_Mutation SNP C T T TCGA-EE-A3AC-06A-11D-A196-08 TCGA-EE-A3AC-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 883d623b-c427-4444-9ee3-66d18648130f f8f00311-8db5-4187-bcb8-5054d9fbdac3 g.chrX:70683700C>T uc004dzu.4 + 37 5474 c.5423C>T c.(5422-5424)cCc>cTc p.P1808L BCYRN1_uc011mpt.1_Intron|TAF1_uc004dzt.4_Missense_Mutation_p.P1829L|TAF1_uc004dzv.4_Missense_Mutation_p.P1016L|TAF1_uc010nle.1_Intron|TAF1_uc010nlf.1_Intron|TAF1_uc004dzx.2_Intron|TAF1_uc004dzy.2_Intron|TAF1_uc004dzw.1_Intron|TAF1_uc010nlg.1_Intron NM_138923 NP_620278 P21675 TAF1_HUMAN Homo sapiens TAF1 RNA polymerase II, TATA box binding protein (TBP)-associated factor, 250kDa (TAF1), transcript variant 2, mRNA. 1808 Asp/Glu-rich (acidic tail).|Protein kinase 2. G1 phase of mitotic cell cycle|RNA polymerase II transcriptional preinitiation complex assembly|interspecies interaction between organisms|peptidyl-serine phosphorylation|peptidyl-threonine phosphorylation|positive regulation of proteasomal ubiquitin-dependent protein catabolic process|positive regulation of transcription from RNA polymerase II promoter|positive regulation of transcription initiation from RNA polymerase II promoter|protein autophosphorylation|regulation of transcription involved in G2/M-phase of mitotic cell cycle|transcription elongation from RNA polymerase II promoter|viral reproduction MLL1 complex|transcription factor TFIID complex ATP binding|TBP-class protein binding|histone acetyl-lysine binding|histone acetyltransferase activity|p53 binding|protein binding|protein serine/threonine kinase activity|sequence-specific DNA binding|transcription coactivator activity breast(13)|central_nervous_system(6)|cervix(1)|endometrium(25)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(16)|lung(34)|ovary(9)|prostate(3)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(3) 124 Renal(35;0.156) all_lung(315;0.000321) GAGCCTGATCCCAAGTCGAAC 0.532000 1 8 0 0 0.000442599 0 0 DISP1 84976 broad.mit.edu 37 1 223176378 223176378 + Missense_Mutation SNP C T T TCGA-EE-A3AC-06A-11D-A196-08 TCGA-EE-A3AC-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 883d623b-c427-4444-9ee3-66d18648130f f8f00311-8db5-4187-bcb8-5054d9fbdac3 g.chr1:223176378C>T uc001hnu.2 + 9 1965 c.1639C>T c.(1639-1641)Cgt>Tgt p.R547C NM_032890 NP_116279 Q96F81 DISP1_HUMAN Homo sapiens dispatched homolog 1 (Drosophila) (DISP1), mRNA. 547 SSD. diaphragm development|protein homotrimerization|regulation of protein secretion|smoothened signaling pathway basolateral plasma membrane|integral to membrane hedgehog receptor activity|peptide transporter activity breast(1)|central_nervous_system(1)|cervix(1)|endometrium(7)|kidney(3)|large_intestine(20)|lung(25)|prostate(4)|skin(1)|stomach(1)|urinary_tract(5) 69 GBM - Glioblastoma multiforme(131;0.102) TTTTCTCTATCGTGTAGTATT 0.358000 585 218 0 0 0.000781405 0 0 TRIM3 10612 broad.mit.edu 37 11 6477915 6477915 + Silent SNP G A A TCGA-EE-A3AC-06A-11D-A196-08 TCGA-EE-A3AC-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 883d623b-c427-4444-9ee3-66d18648130f f8f00311-8db5-4187-bcb8-5054d9fbdac3 g.chr11:6477915G>A uc001mdh.3 - 6 1437 c.1041C>T c.(1039-1041)acC>acT p.T347T TRIM3_uc001mdi.3_Silent_p.T347T|TRIM3_uc010raj.2_Silent_p.T228T|TRIM3_uc009yfd.3_Silent_p.T347T|TRIM3_uc010rak.1_Silent_p.T347T|TRIM3_uc001mdj.2_Silent_p.T228T NM_006458 NP_006449 O75382 TRIM3_HUMAN Homo sapiens tripartite motif containing 3 (TRIM3), transcript variant 1, mRNA. 347 T -> A (in Ref. 1; AAC24809 and 2; AAG53474/AAG53475/AAG53476). nervous system development|protein transport early endosome protein C-terminus binding|zinc ion binding breast(1)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(8)|ovary(1)|prostate(2)|skin(3) 27 all_lung(207;9.97e-06)|Lung NSC(207;1.74e-05)|Medulloblastoma(188;0.00225)|Breast(177;0.0204)|all_neural(188;0.0212) Epithelial(150;9.34e-10)|Lung(200;0.0234)|LUSC - Lung squamous cell carcinoma(625;0.133)|BRCA - Breast invasive adenocarcinoma(625;0.135) CCTTGTCTTTGGTAGTGACAG 0.687000 27 25 0 0 0.0024448 0 0 C6orf201 404220 broad.mit.edu 37 6 4099236 4099236 + Missense_Mutation SNP G A A TCGA-EE-A3AC-06A-11D-A196-08 TCGA-EE-A3AC-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 883d623b-c427-4444-9ee3-66d18648130f f8f00311-8db5-4187-bcb8-5054d9fbdac3 g.chr6:4099236G>A uc003mwa.4 + 2 856 c.88G>A c.(88-90)Gag>Aag p.E30K C6orf201_uc003mvz.4_Non-coding_Transcript|C6orf201_uc011dhw.1_Missense_Mutation_p.E30K|C6orf201_uc003mwb.4_Non-coding_Transcript NM_001085401 NP_001078870 Q7Z4U5 CF201_HUMAN Homo sapiens chromosome 6 open reading frame 201 (C6orf201), mRNA. 30 p.E30K(2) central_nervous_system(1)|endometrium(3)|lung(2) 6 Ovarian(93;0.0925) all_hematologic(90;0.0895) ATTACCAGGTGAGAATCCTGA 0.403000 18 14 0 0 0.000219431 0 0 ALDH9A1 223 broad.mit.edu 37 1 165652297 165652297 + Silent SNP G A A TCGA-EE-A3AC-06A-11D-A196-08 TCGA-EE-A3AC-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 883d623b-c427-4444-9ee3-66d18648130f f8f00311-8db5-4187-bcb8-5054d9fbdac3 g.chr1:165652297G>A uc001gdh.1 - 2 483 c.378C>T c.(376-378)tcC>tcT p.S126S ALDH9A1_uc010pky.1_Silent_p.S32S|ALDH9A1_uc010pkz.1_Silent_p.S116S|ALDH9A1_uc010pla.1_Silent_p.S32S NM_000696 NP_000687 P49189 AL9A1_HUMAN Homo sapiens aldehyde dehydrogenase 9 family, member A1 (ALDH9A1), mRNA. 102 carnitine biosynthetic process|cellular aldehyde metabolic process|hormone metabolic process|neurotransmitter biosynthetic process cytosol|plasma membrane 3-chloroallyl aldehyde dehydrogenase activity|4-trimethylammoniobutyraldehyde dehydrogenase activity|aldehyde dehydrogenase (NAD) activity|aminobutyraldehyde dehydrogenase activity endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(2)|lung(7)|prostate(1)|skin(2)|urinary_tract(1) 21 all_hematologic(923;0.0773)|Acute lymphoblastic leukemia(8;0.155) NADH(DB00157) CCTCAAAGATGGACTTGCCAT 0.473000 37 60 0 0 0.000781405 0 0 SLC35F3 148641 broad.mit.edu 37 1 234455867 234455867 + Missense_Mutation SNP G A A TCGA-EE-A3AC-06A-11D-A196-08 TCGA-EE-A3AC-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 883d623b-c427-4444-9ee3-66d18648130f f8f00311-8db5-4187-bcb8-5054d9fbdac3 g.chr1:234455867G>A uc001hvy.1 + 6 1316 c.1171G>A c.(1171-1173)Gga>Aga p.G391R SLC35F3_uc001hwa.1_Missense_Mutation_p.G322R NM_173508 NP_775779 Q8IY50 S35F3_HUMAN Homo sapiens solute carrier family 35, member F3 (SLC35F3), mRNA. 322 transport integral to membrane breast(2)|endometrium(3)|kidney(2)|large_intestine(7)|lung(13)|ovary(2)|skin(2)|urinary_tract(1) 32 Ovarian(103;0.0454) all_cancers(173;0.145)|Prostate(94;0.0885) OV - Ovarian serous cystadenocarcinoma(106;0.00531) ATTAAATTTTGGAATTGCCGT 0.403000 87 20 0 0 0.000375601 0 0 PLXND1 23129 broad.mit.edu 37 3 129278531 129278531 + Silent SNP G A A TCGA-EE-A3AC-06A-11D-A196-08 TCGA-EE-A3AC-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 883d623b-c427-4444-9ee3-66d18648130f f8f00311-8db5-4187-bcb8-5054d9fbdac3 g.chr3:129278531G>A uc003emx.2 - 31 5329 c.5229C>T c.(5227-5229)ttC>ttT p.F1743F PLXND1_uc003emw.2_5'Flank|PLXND1_uc011blb.1_Silent_p.F411F NM_015103 NP_055918 Q9Y4D7 PLXD1_HUMAN Homo sapiens plexin D1 (PLXND1), mRNA. 1743 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 GCTCCTCCAGGAAGTCGAAAA 0.572000 46 44 0 0 0.000781405 0 0 CNGA3 1261 broad.mit.edu 37 2 98996720 98996720 + Missense_Mutation SNP G A A TCGA-EE-A3AC-06A-11D-A196-08 TCGA-EE-A3AC-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 883d623b-c427-4444-9ee3-66d18648130f f8f00311-8db5-4187-bcb8-5054d9fbdac3 g.chr2:98996720G>A uc010fij.3 + 3 451 c.310G>A c.(310-312)Gat>Aat p.D104N CNGA3_uc002syt.3_Missense_Mutation_p.D100N|CNGA3_uc002syu.3_Missense_Mutation_p.D100N Q16281 CNGA3_HUMAN Homo sapiens cyclic nucleotide gated channel alpha 3 (CNGA3), transcript variant 1, mRNA. 100 signal transduction|visual perception integral to membrane cGMP binding breast(1)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(10)|lung(17)|ovary(5)|prostate(3)|skin(4)|upper_aerodigestive_tract(3) 49 CTCTTTTCCTGATCGTTTCCG 0.597000 39 30 0 0 0.000491102 0 0 FAT3 120114 broad.mit.edu 37 11 92614005 92614005 + Missense_Mutation SNP G A A TCGA-EE-A3AC-06A-11D-A196-08 TCGA-EE-A3AC-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 883d623b-c427-4444-9ee3-66d18648130f f8f00311-8db5-4187-bcb8-5054d9fbdac3 g.chr11:92614005G>A uc001pdj.4 + 21 12253 c.12236G>A c.(12235-12237)gGa>gAa p.G4079E FAT3_uc001pdi.4_Missense_Mutation_p.G519E NM_001008781 NP_001008781 Q8TDW7 FAT3_HUMAN Homo sapiens FAT tumor suppressor homolog 3 (Drosophila) (FAT3), mRNA. 4079 EGF-like 3. homophilic cell adhesion|multicellular organismal development integral to membrane|plasma membrane calcium ion binding NS(1)|breast(2)|endometrium(10)|kidney(4)|large_intestine(11)|liver(2)|lung(37)|ovary(5)|pancreas(1)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(5) 85 Acute lymphoblastic leukemia(157;3.01e-05)|all_hematologic(158;0.00858) GATCCAATAGGAAACACTTTC 0.448000 TCGA Ovarian(4;0.039) 210 139 0 0 0.000781405 0 0 AHNAK 79026 broad.mit.edu 37 11 62296332 62296332 + Missense_Mutation SNP G A A TCGA-EE-A3AC-06A-11D-A196-08 TCGA-EE-A3AC-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 883d623b-c427-4444-9ee3-66d18648130f f8f00311-8db5-4187-bcb8-5054d9fbdac3 g.chr11:62296332G>A uc001ntl.3 - 4 5857 c.5557C>T c.(5557-5559)Ccc>Tcc p.P1853S AHNAK_uc001ntk.1_Intron NM_001620 NP_001611 Q09666 AHNK_HUMAN Homo sapiens AHNAK nucleoprotein (AHNAK), transcript variant 1, mRNA. 1853 nervous system development nucleus protein binding NS(3)|autonomic_ganglia(1)|breast(10)|central_nervous_system(5)|endometrium(17)|haematopoietic_and_lymphoid_tissue(2)|kidney(33)|large_intestine(40)|liver(1)|lung(108)|ovary(13)|pancreas(4)|prostate(5)|skin(16)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(6) 268 Melanoma(852;0.155) GAGATCTTGGGGGCCTTGAAG 0.512000 121 78 0 0 0.000781405 0 0 OR51F2 119694 broad.mit.edu 37 11 4842988 4842988 + Missense_Mutation SNP G A A TCGA-EE-A3AC-06A-11D-A196-08 TCGA-EE-A3AC-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 883d623b-c427-4444-9ee3-66d18648130f f8f00311-8db5-4187-bcb8-5054d9fbdac3 g.chr11:4842988G>A uc010qyn.2 + 0 373 c.373G>A c.(373-375)Gag>Aag p.E125K NM_001004753 NP_001004753 Q8NH61 O51F2_HUMAN Homo sapiens olfactory receptor, family 51, subfamily F, member 2 (OR51F2), mRNA. 125 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity breast(2)|endometrium(4)|large_intestine(3)|lung(16)|ovary(1)|pancreas(1)|prostate(4)|skin(2) 33 Medulloblastoma(188;0.0075)|all_neural(188;0.0577)|Breast(177;0.0778) Epithelial(150;5.06e-12)|BRCA - Breast invasive adenocarcinoma(625;0.00438)|LUSC - Lung squamous cell carcinoma(625;0.19) TACTTTCATGGAGTCTGGGGT 0.463000 39 29 0 0 0.001512 0 0 TRAPPC11 60684 broad.mit.edu 37 4 184585175 184585175 + Missense_Mutation SNP C T T TCGA-EE-A3AC-06A-11D-A196-08 TCGA-EE-A3AC-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 883d623b-c427-4444-9ee3-66d18648130f f8f00311-8db5-4187-bcb8-5054d9fbdac3 g.chr4:184585175C>T uc003ivx.3 + 1 357 c.155C>T c.(154-156)tCt>tTt p.S52F TRAPPC11_uc003ivw.3_Missense_Mutation_p.S52F|TRAPPC11_uc010isc.3_5'UTR NM_021942 NP_068761 Q7Z392 CD041_HUMAN Homo sapiens trafficking protein particle complex 11 (TRAPPC11), transcript variant 1, mRNA. 52 GTACCAATTTCTTTCAAGGTG 0.468000 45 28 0 0 0.00178596 0 0 ACLY 47 broad.mit.edu 37 17 40042418 40042418 + Silent SNP G A A TCGA-EE-A3AC-06A-11D-A196-08 TCGA-EE-A3AC-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 883d623b-c427-4444-9ee3-66d18648130f f8f00311-8db5-4187-bcb8-5054d9fbdac3 g.chr17:40042418G>A uc002hyg.3 - 17 2182 c.2019C>T c.(2017-2019)atC>atT p.I673I ACLY_uc002hyh.3_Silent_p.I663I|ACLY_uc002hyi.3_Silent_p.I727I|ACLY_uc010wfx.2_Silent_p.I717I|ACLY_uc010wfy.2_Silent_p.I402I NM_001096 NP_001087 P53396 ACLY_HUMAN Homo sapiens ATP citrate lyase (ACLY), transcript variant 1, mRNA. 673 ATP catabolic process|cellular carbohydrate metabolic process|citrate metabolic process|coenzyme A metabolic process|energy reserve metabolic process|long-chain fatty-acyl-CoA biosynthetic process|positive regulation of cellular metabolic process|triglyceride biosynthetic process citrate lyase complex|cytosol|nucleus ATP binding|ATP citrate synthase activity|citrate (pro-3S)-lyase activity|metal ion binding|protein binding|succinate-CoA ligase (ADP-forming) activity NTN1/ACLY(2) breast(2)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(3)|large_intestine(5)|lung(4)|ovary(3)|upper_aerodigestive_tract(1)|urinary_tract(2) 28 Breast(137;0.000143) TCCGAGAGATGATATTGTTGA 0.582000 116 133 0 0 0.000781405 0 0 DNAH7 56171 broad.mit.edu 37 2 196825267 196825267 + Missense_Mutation SNP C T T TCGA-EE-A3AC-06A-11D-A196-08 TCGA-EE-A3AC-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 883d623b-c427-4444-9ee3-66d18648130f f8f00311-8db5-4187-bcb8-5054d9fbdac3 g.chr2:196825267C>T uc002utj.4 - 17 2709 c.2608G>A c.(2608-2610)Gac>Aac p.D870N NM_018897 NP_061720 Q8WXX0 DYH7_HUMAN Homo sapiens dynein, axonemal, heavy chain 7 (DNAH7), mRNA. 870 Stem (By similarity). ciliary or flagellar motility|microtubule-based movement axonemal dynein complex|cilium axoneme|cytoplasm|microtubule ATP binding|microtubule motor activity NS(4)|breast(2)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(15)|large_intestine(28)|liver(3)|lung(100)|ovary(4)|prostate(5)|skin(26)|upper_aerodigestive_tract(2)|urinary_tract(3) 205 ACTGTGGAGTCATCTGATGGC 0.443000 44 22 0 0 0.00229938 0 0 CTNNB1 1499 broad.mit.edu 37 3 41275738 41275738 + Nonsense_Mutation SNP C T T TCGA-EE-A3AC-06A-11D-A196-08 TCGA-EE-A3AC-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 883d623b-c427-4444-9ee3-66d18648130f f8f00311-8db5-4187-bcb8-5054d9fbdac3 g.chr3:41275738C>T uc010hia.1 + 10 1789 c.1633C>T c.(1633-1635)Cag>Tag p.Q545* CTNNB1_uc003ckq.2_Nonsense_Mutation_p.Q545*|CTNNB1_uc003ckp.2_Nonsense_Mutation_p.Q545*|CTNNB1_uc003ckr.2_Nonsense_Mutation_p.Q545*|CTNNB1_uc011azf.1_Nonsense_Mutation_p.Q538*|CTNNB1_uc011azg.1_Nonsense_Mutation_p.Q473*|CTNNB1_uc003cks.3_3'UTR|CTNNB1_uc003ckt.1_5'Flank NM_001904 NP_001895 P35222 CTNB1_HUMAN Homo sapiens catenin (cadherin-associated protein), beta 1, 88kDa (CTNNB1), transcript variant 1, mRNA. 545 Schwann cell proliferation|T cell differentiation in thymus|adherens junction assembly|androgen receptor signaling pathway|branching involved in ureteric bud morphogenesis|canonical Wnt receptor signaling pathway involved in negative regulation of apoptosis|canonical Wnt receptor signaling pathway involved in positive regulation of epithelial to mesenchymal transition|cell-cell adhesion|cell-matrix adhesion|cellular component disassembly involved in apoptosis|cellular response to growth factor stimulus|cellular response to indole-3-methanol|central nervous system vasculogenesis|cytoskeletal anchoring at plasma membrane|determination of dorsal/ventral asymmetry|dorsal/ventral axis specification|ectoderm development|embryonic axis specification|embryonic foregut morphogenesis|embryonic leg joint morphogenesis|endodermal cell fate commitment|endothelial tube morphogenesis|epithelial to mesenchymal transition|gastrulation with mouth forming second|glial cell fate determination|hair follicle morphogenesis|hair follicle placode formation|hindbrain development|liver development|lung cell differentiation|lung induction|lung-associated mesenchyme development|male genitalia development|mesenchymal cell proliferation involved in lung development|mesenchymal to epithelial transition involved in metanephros morphogenesis|negative regulation of cell proliferation|negative regulation of chondrocyte differentiation|negative regulation of heart induction by canonical Wnt receptor signaling pathway|negative regulation of osteoclast differentiation|negative regulation of transcription from RNA polymerase II promoter|nephron tubule formation|odontogenesis of dentine-containing tooth|oocyte development|pancreas development|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of MAPKKK cascade|positive regulation of anti-apoptosis|positive regulation of apoptosis|positive regulation of branching involved in lung morphogenesis|positive regulation of epithelial cell proliferation involved in prostate gland development|positive regulation of fibroblast growth factor receptor signaling pathway|positive regulation of heparan sulfate proteoglycan biosynthetic process|positive regulation of muscle cell differentiation|positive regulation of osteoblast differentiation|positive regulation of transcription from RNA polymerase II promoter|protein localization at cell surface|proximal/distal pattern formation|regulation of T cell proliferation|regulation of angiogenesis|regulation of calcium ion import|regulation of centriole-centriole cohesion|regulation of centromeric sister chromatid cohesion|regulation of fibroblast proliferation|regulation of nephron tubule epithelial cell differentiation|regulation of protein localization at cell surface|regulation of smooth muscle cell proliferation|renal inner medulla development|renal outer medulla development|renal vesicle formation|response to drug|response to estradiol stimulus|smooth muscle cell differentiation|synapse organization|synaptic vesicle transport|thymus development|trachea formation APC-Axin-1-beta-catenin complex|Axin-APC-beta-catenin-GSK3B complex|Z disc|beta-catenin-TCF7L2 complex|catenin complex|cell cortex|cell-substrate adherens junction|centrosome|dendritic shaft|desmosome|fascia adherens|internal side of plasma membrane|lamellipodium|lateral plasma membrane|microvillus membrane|perinuclear region of cytoplasm|protein-DNA complex|synapse|transcription factor complex|zonula adherens I-SMAD binding|R-SMAD binding|RPTP-like protein binding|alpha-catenin binding|androgen receptor binding|cadherin binding|estrogen receptor binding|ion channel binding|protein C-terminus binding|protein binding|protein kinase binding|protein phosphatase binding|signal transducer activity|specific RNA polymerase II transcription factor activity|structural molecule activity|transcription coactivator activity|transcription regulatory region DNA binding CTNNB1/PLAG1(60) NS(4)|adrenal_gland(103)|biliary_tract(43)|bone(21)|breast(7)|central_nervous_system(260)|cervix(9)|endometrium(293)|eye(1)|haematopoietic_and_lymphoid_tissue(60)|kidney(202)|large_intestine(269)|liver(1010)|lung(63)|oesophagus(6)|ovary(106)|pancreas(126)|parathyroid(11)|pituitary(111)|pleura(2)|prostate(31)|salivary_gland(13)|skin(103)|small_intestine(17)|soft_tissue(792)|stomach(165)|thyroid(55)|upper_aerodigestive_tract(2)|urinary_tract(8) 3893 KIRC - Kidney renal clear cell carcinoma(284;0.0028)|Kidney(284;0.00294) Lithium(DB01356) TCGTGCACATCAGGATACCCA 0.478000 15 """H, Mis, T""" PLAG1 """colorectal, cvarian, hepatoblastoma, others, pleomorphic salivary adenoma""" Pilomatrixoma, Familial Clustering of 25 18 0 0 0.000566183 0 0 BCL2L14 79370 broad.mit.edu 37 12 12232276 12232276 + Missense_Mutation SNP C T T TCGA-EE-A3AC-06A-11D-A196-08 TCGA-EE-A3AC-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 883d623b-c427-4444-9ee3-66d18648130f f8f00311-8db5-4187-bcb8-5054d9fbdac3 g.chr12:12232276C>T uc001rac.3 + 1 238 c.37C>T c.(37-39)Ccc>Tcc p.P13S ETV6_uc001raa.1_Intron|BCL2L14_uc001raf.1_Non-coding_Transcript|BCL2L14_uc001rad.3_Missense_Mutation_p.P13S|BCL2L14_uc001rae.3_Missense_Mutation_p.P13S NM_138723 NP_620049 Q9BZR8 B2L14_HUMAN Homo sapiens BCL2-like 14 (apoptosis facilitator) (BCL2L14), transcript variant 4, mRNA. 13 apoptosis|regulation of apoptosis cytosol|endomembrane system|intracellular organelle|membrane protein binding large_intestine(1)|lung(2)|skin(3) 6 Prostate(47;0.0872) BRCA - Breast invasive adenocarcinoma(232;0.154) GGAAGAAATCCCCCTAGATGA 0.488000 45 30 0 0 0.0024448 0 0 ABCA1 19 broad.mit.edu 37 9 107581899 107581899 + Missense_Mutation SNP C A A TCGA-EE-A3AC-06A-11D-A196-08 TCGA-EE-A3AC-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 883d623b-c427-4444-9ee3-66d18648130f f8f00311-8db5-4187-bcb8-5054d9fbdac3 g.chr9:107581899C>A uc004bcl.3 - 21 3613 c.3209G>T c.(3208-3210)gGa>gTa p.G1070V NM_005502 NP_005493 O95477 ABCA1_HUMAN Homo sapiens ATP-binding cassette, sub-family A (ABC1), member 1 (ABCA1), mRNA. 1070 ABC transporter 1. Cdc42 protein signal transduction|G-protein coupled receptor protein signaling pathway|cellular lipid metabolic process|cholesterol efflux|cholesterol homeostasis|cholesterol metabolic process|endosome transport|high-density lipoprotein particle assembly|interleukin-1 beta secretion|intracellular cholesterol transport|lysosome organization|negative regulation of cholesterol storage|negative regulation of macrophage derived foam cell differentiation|phospholipid efflux|phospholipid homeostasis|platelet dense granule organization|positive regulation of cAMP biosynthetic process|reverse cholesterol transport integral to plasma membrane|membrane fraction|membrane raft|phagocytic vesicle ATP binding|ATPase activity|anion transmembrane transporter activity|apolipoprotein A-I receptor activity|cholesterol transporter activity|phospholipid transporter activity|small GTPase binding|syntaxin-13 binding NS(1)|autonomic_ganglia(1)|breast(5)|central_nervous_system(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(31)|liver(1)|lung(40)|ovary(5)|pancreas(2)|prostate(4)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 115 OV - Ovarian serous cystadenocarcinoma(323;0.023) Adenosine triphosphate(DB00171)|Glibenclamide(DB01016) CTCCCATATTCCCCTGCGGGA 0.517000 53 45 1.21353e-23 5.61645e-23 0.000781405 1 0 RBMS1 5937 broad.mit.edu 37 2 161141366 161141366 + Missense_Mutation SNP G A A TCGA-EE-A3AC-06A-11D-A196-08 TCGA-EE-A3AC-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 883d623b-c427-4444-9ee3-66d18648130f f8f00311-8db5-4187-bcb8-5054d9fbdac3 g.chr2:161141366G>A uc002ubo.3 - 8 1264 c.820C>T c.(820-822)Cca>Tca p.P274S RBMS1_uc002ubn.3_Missense_Mutation_p.P271S|RBMS1_uc002ubi.4_Missense_Mutation_p.P271S|RBMS1_uc002ubm.3_Missense_Mutation_p.P241S|RBMS1_uc002ubp.3_Missense_Mutation_p.P274S|RBMS1_uc010fox.2_Missense_Mutation_p.P274S NM_016836 NP_058520 P29558 RBMS1_HUMAN Homo sapiens RNA binding motif, single stranded interacting protein 1 (RBMS1), transcript variant 1, mRNA. 274 DNA replication|RNA processing nucleus RNA binding|double-stranded DNA binding|nucleotide binding|protein binding|single-stranded DNA binding PLA2R1/RBMS1(2) ATACTGTATGGTGAAGGATAA 0.343000 31 14 0 0 0.000219431 0 0 CILP 8483 broad.mit.edu 37 15 65490444 65490444 + Missense_Mutation SNP C T T TCGA-EE-A3AC-06A-11D-A196-08 TCGA-EE-A3AC-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 883d623b-c427-4444-9ee3-66d18648130f f8f00311-8db5-4187-bcb8-5054d9fbdac3 g.chr15:65490444C>T uc002aon.2 - 8 2361 c.2180G>A c.(2179-2181)aGa>aAa p.R727K NM_003613 NP_003604 O75339 CILP1_HUMAN Homo sapiens cartilage intermediate layer protein, nucleotide pyrophosphohydrolase (CILP), mRNA. 727 negative regulation of insulin-like growth factor receptor signaling pathway extracellular matrix part|extracellular space|proteinaceous extracellular matrix breast(5)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(14)|lung(17)|ovary(4)|pancreas(2)|prostate(4)|skin(2)|urinary_tract(1) 55 CAGGAAGGTTCTGTCTTCTCT 0.498000 100 52 0 0 0.000781405 0 0 ZNF267 10308 broad.mit.edu 37 16 31896570 31896570 + Silent SNP C T T TCGA-EE-A3AC-06A-11D-A196-08 TCGA-EE-A3AC-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 883d623b-c427-4444-9ee3-66d18648130f f8f00311-8db5-4187-bcb8-5054d9fbdac3 g.chr16:31896570C>T uc002ecs.4 + 2 428 c.219C>T c.(217-219)atC>atT p.I73I NM_003414 NP_003405 Q14586 ZN267_HUMAN Homo sapiens zinc finger protein 267 (ZNF267), transcript variant 498723, mRNA. 73 KRAB. multicellular organismal development|regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding breast(3)|endometrium(5)|kidney(1)|large_intestine(14)|lung(11)|ovary(2)|skin(3)|upper_aerodigestive_tract(2) 41 CAGTAGCCATCCAGCCAGGTA 0.483000 12 11 0 0 0.000978159 0 0 CHPT1 56994 broad.mit.edu 37 12 102108354 102108354 + Missense_Mutation SNP T C C TCGA-EE-A3AC-06A-11D-A196-08 TCGA-EE-A3AC-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 883d623b-c427-4444-9ee3-66d18648130f f8f00311-8db5-4187-bcb8-5054d9fbdac3 g.chr12:102108354T>C uc001tin.3 + 2 717 c.494T>C c.(493-495)tTt>tCt p.F165S CHPT1_uc001tio.3_Non-coding_Transcript|CHPT1_uc001tip.1_Missense_Mutation_p.F165S NM_020244 NP_064629 Q8WUD6 CHPT1_HUMAN Homo sapiens choline phosphotransferase 1 (CHPT1), mRNA. 165 platelet activating factor biosynthetic process|regulation of cell growth Golgi membrane|integral to membrane|microsome diacylglycerol binding|diacylglycerol cholinephosphotransferase activity|metal ion binding kidney(2)|large_intestine(3)|lung(3)|upper_aerodigestive_tract(1)|urinary_tract(1) 10 TTCTGCTCTTTTATTGGGATG 0.353000 64 47 0 0 0.000781405 0 0 PRB2 653247 broad.mit.edu 37 12 11545984 11545984 + Missense_Mutation SNP C T T TCGA-EE-A3AC-06A-11D-A196-08 TCGA-EE-A3AC-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 883d623b-c427-4444-9ee3-66d18648130f f8f00311-8db5-4187-bcb8-5054d9fbdac3 g.chr12:11545984C>T uc010shk.1 - 2 1063 c.1028G>A c.(1027-1029)gGa>gAa p.G343E NM_006248 NP_006239 Homo sapiens proline-rich protein BstNI subfamily 2 (PRB2), mRNA. p.G343E(1) NS(1)|breast(1)|endometrium(2)|kidney(3)|large_intestine(3)|lung(14)|pancreas(1)|prostate(5)|skin(4)|stomach(2)|urinary_tract(1) 37 all_cancers(2;0.00558)|Acute lymphoblastic leukemia(2;3.94e-11)|all_hematologic(2;3.6e-09) OV - Ovarian serous cystadenocarcinoma(49;0.185) TTGTGGCTTTCCTGGAGGTGG 0.597000 93 50 0 0 0.000781405 0 0 KIAA1199 57214 broad.mit.edu 37 15 81212561 81212561 + Missense_Mutation SNP G A A TCGA-EE-A3AC-06A-11D-A196-08 TCGA-EE-A3AC-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 883d623b-c427-4444-9ee3-66d18648130f f8f00311-8db5-4187-bcb8-5054d9fbdac3 g.chr15:81212561G>A uc002bfw.1 + 13 2184 c.1924G>A c.(1924-1926)Gac>Aac p.D642N KIAA1199_uc010unn.1_Missense_Mutation_p.D642N NM_018689 NP_061159 Q8WUJ3 K1199_HUMAN Homo sapiens KIAA1199 (KIAA1199), mRNA. 642 breast(4)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(10)|lung(14)|ovary(1)|prostate(3)|skin(5)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2) 49 CCTCCCCTCGGACCGTGACAG 0.572000 28 12 0 0 0.000978159 0 0 TIE1 7075 broad.mit.edu 37 1 43770717 43770717 + Missense_Mutation SNP C T T TCGA-EE-A3AC-06A-11D-A196-08 TCGA-EE-A3AC-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 883d623b-c427-4444-9ee3-66d18648130f f8f00311-8db5-4187-bcb8-5054d9fbdac3 g.chr1:43770717C>T uc001ciu.3 + 1 431 c.254C>T c.(253-255)tCg>tTg p.S85L TIE1_uc010okd.2_Missense_Mutation_p.S85L|TIE1_uc010oke.2_Missense_Mutation_p.S40L|TIE1_uc009vwq.3_Missense_Mutation_p.S85L|TIE1_uc010okf.1_5'UTR|TIE1_uc010okg.2_5'Flank|TIE1_uc010oka.2_Missense_Mutation_p.S85L|TIE1_uc010okb.2_Missense_Mutation_p.S85L|TIE1_uc010okc.2_Missense_Mutation_p.S85L NM_005424 NP_005415 P35590 TIE1_HUMAN Homo sapiens tyrosine kinase with immunoglobulin-like and EGF-like domains 1 (TIE1), transcript variant 1, mRNA. 85 Ig-like C2-type 1. mesoderm development integral to plasma membrane ATP binding|protein binding|transmembrane receptor protein tyrosine kinase activity p.S85S(1) breast(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(8)|lung(28)|ovary(3)|prostate(2)|salivary_gland(1)|skin(10)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(4) 70 Acute lymphoblastic leukemia(166;0.155) Myeloproliferative disorder(586;0.0505) CGCAACGGTTCGCACCAGGTC 0.736000 8 4 0 0 0.00116845 0 0 OR6Y1 391112 broad.mit.edu 37 1 158517164 158517164 + Silent SNP G A A TCGA-EE-A3AC-06A-11D-A196-08 TCGA-EE-A3AC-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 883d623b-c427-4444-9ee3-66d18648130f f8f00311-8db5-4187-bcb8-5054d9fbdac3 g.chr1:158517164G>A uc010pil.2 - 0 732 c.732C>T c.(730-732)tcC>tcT p.S244S NM_001005189 NP_001005189 Q8NGX8 OR6Y1_HUMAN Homo sapiens olfactory receptor, family 6, subfamily Y, member 1 (OR6Y1), mRNA. 244 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity NS(1)|kidney(1)|large_intestine(5)|lung(16)|ovary(1)|prostate(2)|upper_aerodigestive_tract(2)|urinary_tract(2) 30 all_hematologic(112;0.0378) AGGCACAGGTGGAGAATGCCT 0.502000 38 19 0 0 0.000375601 0 0 CASR 846 broad.mit.edu 37 3 122003187 122003187 + Nonsense_Mutation SNP A T T TCGA-EE-A3AC-06A-11D-A196-08 TCGA-EE-A3AC-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 883d623b-c427-4444-9ee3-66d18648130f f8f00311-8db5-4187-bcb8-5054d9fbdac3 g.chr3:122003187A>T uc003eew.4 + 6 2854 c.2416A>T c.(2416-2418)Aag>Tag p.K806* CASR_uc003eev.4_Nonsense_Mutation_p.K796* NM_001178065 NP_001171536 P41180 CASR_HUMAN Homo sapiens calcium-sensing receptor (CASR), transcript variant 1, mRNA. 796 F -> S (in FIH; mild shift of the concentration-response curve to tne left but the change in EC(50) does not reach statistical significance). anatomical structure morphogenesis|calcium ion import|cellular calcium ion homeostasis|chemosensory behavior|detection of calcium ion|ossification integral to plasma membrane G-protein coupled receptor activity|phosphatidylinositol phospholipase C activity NS(1)|breast(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(13)|lung(45)|ovary(4)|prostate(3)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 84 GBM - Glioblastoma multiforme(114;0.226) Cinacalcet(DB01012) CAAGTCCCGGAAGCTGCCGGA 0.552000 30 11 0 0 0.000978159 0 0 C15orf2 23742 broad.mit.edu 37 15 24922593 24922593 + Missense_Mutation SNP C T T TCGA-EE-A3AC-06A-11D-A196-08 TCGA-EE-A3AC-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 883d623b-c427-4444-9ee3-66d18648130f f8f00311-8db5-4187-bcb8-5054d9fbdac3 g.chr15:24922593C>T uc001ywo.3 + 0 2053 c.1579C>T c.(1579-1581)Ctt>Ttt p.L527F NM_018958 NP_061831 Q9NZP6 CO002_HUMAN Homo sapiens chromosome 15 open reading frame 2 (C15orf2), mRNA. 527 Pro-rich. cell differentiation|multicellular organismal development|spermatogenesis NS(2)|autonomic_ganglia(1)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(13)|kidney(1)|large_intestine(28)|lung(77)|ovary(5)|pancreas(1)|skin(8) 140 all_cancers(20;2.14e-21)|all_epithelial(15;4.77e-19)|Lung NSC(15;1.43e-14)|all_lung(15;9.57e-14)|Breast(32;0.00086) all cancers(64;3.19e-24)|Epithelial(43;2.67e-17)|GBM - Glioblastoma multiforme(186;7.36e-07)|BRCA - Breast invasive adenocarcinoma(123;0.000273)|Lung(196;0.229) CCCTCCTCCTCTTTCCTTCCT 0.527000 103 47 0 0 0.000781405 0 0 MEI1 150365 broad.mit.edu 37 22 42128268 42128268 + Silent SNP G A A TCGA-EE-A3AC-06A-11D-A196-08 TCGA-EE-A3AC-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 883d623b-c427-4444-9ee3-66d18648130f f8f00311-8db5-4187-bcb8-5054d9fbdac3 g.chr22:42128268G>A uc003baz.1 + 9 1141 c.1116G>A c.(1114-1116)agG>agA p.R372R bK250D10.C22.8_uc003bba.1_Intron|MEI1_uc003bay.3_Silent_p.R372R|MEI1_uc011apd.1_Non-coding_Transcript NM_152513 NP_689726 Q5TIA1 MEI1_HUMAN Homo sapiens meiosis inhibitor 1 (MEI1), mRNA. 372 binding breast(1)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(7)|lung(10)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 30 CAGTGGTGAGGAGCCTGCAGG 0.557000 9 6 0 0 0.00198382 0 0 RYR2 6262 broad.mit.edu 37 1 237969530 237969530 + Missense_Mutation SNP G A A TCGA-EE-A3AC-06A-11D-A196-08 TCGA-EE-A3AC-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 883d623b-c427-4444-9ee3-66d18648130f f8f00311-8db5-4187-bcb8-5054d9fbdac3 g.chr1:237969530G>A uc001hyl.1 + 98 14365 c.14245G>A c.(14245-14247)Gga>Aga p.G4749R RYR2_uc010pyb.1_Missense_Mutation_p.G182R NM_001035 NP_001026 Q92736 RYR2_HUMAN Homo sapiens ryanodine receptor 2 (cardiac) (RYR2), mRNA. 4749 cardiac muscle contraction|detection of calcium ion|induction of apoptosis by ionic changes|regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion|release of sequestered calcium ion into cytosol by sarcoplasmic reticulum|response to caffeine|response to hypoxia|response to redox state calcium channel complex|cytosol|plasma membrane|plasma membrane enriched fraction|sarcoplasmic reticulum membrane calcium ion binding|calmodulin binding|identical protein binding|protein kinase A catalytic subunit binding|protein kinase A regulatory subunit binding|receptor activity|ryanodine-sensitive calcium-release channel activity|suramin binding NS(4)|breast(8)|central_nervous_system(11)|cervix(2)|endometrium(39)|haematopoietic_and_lymphoid_tissue(5)|kidney(17)|large_intestine(83)|liver(4)|lung(353)|ovary(18)|pancreas(5)|prostate(12)|skin(8)|stomach(1)|upper_aerodigestive_tract(12)|urinary_tract(4) 586 Ovarian(103;0.103) all_cancers(173;0.000368)|Melanoma(53;0.0179)|all_epithelial(177;0.0225) OV - Ovarian serous cystadenocarcinoma(106;0.00606) CATTGCTATGGGATTCAAGAC 0.383000 107 31 0 0 0.00058488 0 0 DNAH17 8632 broad.mit.edu 37 17 76526587 76526587 + Missense_Mutation SNP G A A TCGA-EE-A3AC-06A-11D-A196-08 TCGA-EE-A3AC-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 883d623b-c427-4444-9ee3-66d18648130f f8f00311-8db5-4187-bcb8-5054d9fbdac3 g.chr17:76526587G>A uc010dhp.2 - 20 3247 c.3122C>T c.(3121-3123)tCc>tTc p.S1041F NM_173628 NP_775899 Homo sapiens dynein, axonemal, heavy chain 17 (DNAH17), mRNA. NS(2)|breast(7)|central_nervous_system(5)|cervix(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(1)|kidney(13)|large_intestine(8)|lung(37)|ovary(8)|prostate(7)|skin(4)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(3) 116 BRCA - Breast invasive adenocarcinoma(99;0.00294)|OV - Ovarian serous cystadenocarcinoma(97;0.0656) CTTCTCGTAGGAGTCGATCTG 0.632000 51 111 0 0 0.000781405 0 0 CNTN4 152330 broad.mit.edu 37 3 3080684 3080684 + Nonsense_Mutation SNP G A A TCGA-EE-A3AC-06A-11D-A196-08 TCGA-EE-A3AC-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 883d623b-c427-4444-9ee3-66d18648130f f8f00311-8db5-4187-bcb8-5054d9fbdac3 g.chr3:3080684G>A uc003bpc.3 + 18 2499 c.2160G>A c.(2158-2160)tgG>tgA p.W720* CNTN4_uc003bpb.1_Nonsense_Mutation_p.W391*|CNTN4_uc021wsg.1_Nonsense_Mutation_p.W720*|CNTN4_uc003bpe.3_Nonsense_Mutation_p.W392*|CNTN4_uc003bpf.3_Nonsense_Mutation_p.W391*|CNTN4_uc003bpg.3_5'Flank NM_175607 NP_783302 Q8IWV2 CNTN4_HUMAN Homo sapiens contactin 4 (CNTN4), transcript variant 1, mRNA. 720 Fibronectin type-III 2. axon guidance|axonal fasciculation|brain development|negative regulation of neuron differentiation|neuron cell-cell adhesion|regulation of synaptic plasticity anchored to membrane|axon|extracellular region|plasma membrane protein binding NS(1)|breast(4)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(14)|lung(19)|ovary(2)|pancreas(4)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(1) 61 Ovarian(110;0.156) Epithelial(13;0.000695)|all cancers(10;0.0047)|OV - Ovarian serous cystadenocarcinoma(96;0.01) TTATAACCTGGGAGGTAAATG 0.438000 46 20 0 0 0.00188189 0 0 POM121 9883 broad.mit.edu 37 7 72412766 72412766 + Missense_Mutation SNP C T T TCGA-EE-A3AC-06A-11D-A196-08 TCGA-EE-A3AC-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 883d623b-c427-4444-9ee3-66d18648130f f8f00311-8db5-4187-bcb8-5054d9fbdac3 g.chr7:72412766C>T uc003twk.2 + 10 2234 c.2234C>T c.(2233-2235)cCg>cTg p.P745L POM121_uc003twj.3_Missense_Mutation_p.P480L|POM121_uc010lam.1_Missense_Mutation_p.P480L NM_172020 NP_742017 Q96HA1 P121A_HUMAN Homo sapiens POM121 membrane glycoprotein (POM121), mRNA. 745 Pore side (Potential). carbohydrate metabolic process|glucose transport|mRNA transport|protein transport|regulation of glucose transport|transmembrane transport|viral reproduction endoplasmic reticulum membrane|nuclear membrane|nuclear pore NS(1)|breast(1)|endometrium(9)|kidney(4)|large_intestine(6)|lung(12)|prostate(3)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1) 41 Lung NSC(55;0.163) GGCCCCACACCGCCTGGCCCT 0.632000 17 5 0 0 0.000978159 0 0 SLC6A9 6536 broad.mit.edu 37 1 44467191 44467191 + Silent SNP G A A TCGA-EE-A3AC-06A-11D-A196-08 TCGA-EE-A3AC-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 883d623b-c427-4444-9ee3-66d18648130f f8f00311-8db5-4187-bcb8-5054d9fbdac3 g.chr1:44467191G>A uc001cll.3 - 8 1482 c.1290C>T c.(1288-1290)tcC>tcT p.S430S SLC6A9_uc009vxe.2_Silent_p.S286S|SLC6A9_uc010okm.1_Silent_p.S357S|SLC6A9_uc001clm.3_Silent_p.S376S|SLC6A9_uc009vxd.3_Non-coding_Transcript|SLC6A9_uc010okn.2_Silent_p.S361S|SLC6A9_uc010oko.2_Silent_p.S246S|SLC6A9_uc001cln.3_Silent_p.S357S|SLC6A9_uc010okp.1_Non-coding_Transcript NM_201649 NP_964012 P48067 SC6A9_HUMAN Homo sapiens solute carrier family 6 (neurotransmitter transporter, glycine), member 9 (SLC6A9), transcript variant 2, mRNA. 430 integral to plasma membrane|membrane fraction glycine:sodium symporter activity|neurotransmitter:sodium symporter activity endometrium(3)|large_intestine(8)|lung(7)|ovary(1)|skin(1)|urinary_tract(2) 22 Acute lymphoblastic leukemia(166;0.155) Myeloproliferative disorder(586;0.0511) Glycine(DB00145) CTGCCACACGGGACACATCCA 0.592000 50 25 0 0 0.000720815 0 0 PDE4DIP 9659 broad.mit.edu 37 1 144874762 144874762 + Missense_Mutation SNP C T T rs144570156 TCGA-EE-A3AC-06A-11D-A196-08 TCGA-EE-A3AC-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 883d623b-c427-4444-9ee3-66d18648130f f8f00311-8db5-4187-bcb8-5054d9fbdac3 g.chr1:144874762C>T uc021ouh.1 - 29 5148 c.4846G>A c.(4846-4848)Gaa>Aaa p.E1616K NBPF10_uc021ots.1_Intron|NBPF10_uc010oye.2_Intron|PDE4DIP_uc001elk.2_Intron|PDE4DIP_uc001ell.2_Intron|PDE4DIP_uc001elm.4_Intron|PDE4DIP_uc001eln.4_Intron|PDE4DIP_uc001elo.3_Intron|PDE4DIP_uc001elw.4_Missense_Mutation_p.E1616K|PDE4DIP_uc001elx.4_Missense_Mutation_p.E1572K|PDE4DIP_uc001elv.4_Missense_Mutation_p.E623K NM_001198834 NP_001185763 Q5VU43 MYOME_HUMAN Homo sapiens phosphodiesterase 4D interacting protein (PDE4DIP), transcript variant 9, mRNA. 1616 NBPF. cellular protein complex assembly Golgi apparatus|centrosome|myofibril|nucleus enzyme binding NS(1)|breast(3)|central_nervous_system(2)|cervix(2)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(9)|large_intestine(12)|lung(106)|ovary(8)|prostate(7)|skin(3)|upper_aerodigestive_tract(4)|urinary_tract(2) 176 Colorectal(2;0.0829)|COAD - Colon adenocarcinoma(2;0.126) GCTTCCAGTTCATCAGACAGG 0.562000 T PDGFRB MPD 280 52 0 0 0.000781405 0 0 PIK3C2B 5287 broad.mit.edu 37 1 204394120 204394120 + Nonsense_Mutation SNP G A A TCGA-EE-A3AC-06A-11D-A196-08 TCGA-EE-A3AC-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 883d623b-c427-4444-9ee3-66d18648130f f8f00311-8db5-4187-bcb8-5054d9fbdac3 g.chr1:204394120G>A uc001haw.3 - 33 5244 c.4765C>T c.(4765-4767)Cag>Tag p.Q1589* PIK3C2B_uc010pqv.2_Nonsense_Mutation_p.Q1561* NM_002646 NP_002637 O00750 P3C2B_HUMAN Homo sapiens phosphoinositide-3-kinase, class 2, beta polypeptide (PIK3C2B), mRNA. 1589 C2. cell communication|phosphatidylinositol-mediated signaling endoplasmic reticulum|microsome|nucleus|phosphatidylinositol 3-kinase complex|plasma membrane 1-phosphatidylinositol-3-kinase activity|ATP binding|phosphatidylinositol binding|phosphatidylinositol-4-phosphate 3-kinase activity|protein binding breast(3)|central_nervous_system(1)|cervix(2)|endometrium(4)|large_intestine(11)|lung(24)|prostate(3)|skin(2)|stomach(1)|upper_aerodigestive_tract(1) 52 all_cancers(21;0.00347)|all_neural(3;0.0218)|Glioma(3;0.0382)|all_epithelial(62;0.171)|Breast(84;0.179)|Prostate(682;0.227) GBM - Glioblastoma multiforme(2;2.69e-45)|all cancers(3;1.66e-30)|KIRC - Kidney renal clear cell carcinoma(13;0.0584)|Kidney(21;0.0934)|BRCA - Breast invasive adenocarcinoma(75;0.143)|Epithelial(59;0.193) ACGCTCAGCTGGAGCTCCCGC 0.572000 15 6 0 0 0.00198382 0 0 NUP188 23511 broad.mit.edu 37 9 131752415 131752415 + Silent SNP C T T TCGA-EE-A3AC-06A-11D-A196-08 TCGA-EE-A3AC-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 883d623b-c427-4444-9ee3-66d18648130f f8f00311-8db5-4187-bcb8-5054d9fbdac3 g.chr9:131752415C>T uc004bws.1 + 24 2572 c.2550C>T c.(2548-2550)aaC>aaT p.N850N NUP188_uc004bwu.3_Silent_p.N193N NM_015354 NP_056169 Q5SRE5 NU188_HUMAN Homo sapiens nucleoporin 188kDa (NUP188), mRNA. 850 carbohydrate metabolic process|glucose transport|mRNA transport|protein transport|regulation of glucose transport|transmembrane transport|viral reproduction nuclear pore protein binding breast(2)|central_nervous_system(3)|endometrium(6)|kidney(4)|large_intestine(9)|lung(20)|ovary(6)|prostate(4)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(3) 60 ATGGAAACAACCTCATTGCTG 0.458000 240 144 0 0 0.000781405 0 0 KDR 3791 broad.mit.edu 37 4 55972108 55972108 + Splice_Site SNP C T T TCGA-EE-A3AC-06A-11D-A196-08 TCGA-EE-A3AC-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 883d623b-c427-4444-9ee3-66d18648130f f8f00311-8db5-4187-bcb8-5054d9fbdac3 g.chr4:55972108C>T uc003has.3 - 12 1839 c.1537_splice c.e12-1 p.T513_splice KDR_uc003hat.1_Splice_Site_p.T513_splice|KDR_uc011bzx.2_Splice_Site_p.T513_splice NM_002253 NP_002244 P35968 VGFR2_HUMAN Homo sapiens kinase insert domain receptor (a type III receptor tyrosine kinase) (KDR), mRNA. 513 Ig-like C2-type 5. 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|Hsp90 protein binding|growth factor 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) TACTTACAGTCTGTGCGGGGA 0.502000 Mis """NSCLC, angiosarcoma""" TSP Lung(20;0.16) 44 26 0 0 0.000720815 0 0 GALNT11 63917 broad.mit.edu 37 7 151818699 151818699 + Silent SNP G A A TCGA-EE-A3AC-06A-11D-A196-08 TCGA-EE-A3AC-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 883d623b-c427-4444-9ee3-66d18648130f f8f00311-8db5-4187-bcb8-5054d9fbdac3 g.chr7:151818699G>A uc010lqg.1 + 11 1994 c.1764G>A c.(1762-1764)aaG>aaA p.K588K GALNT11_uc011kvm.1_Silent_p.K507K|GALNT11_uc003wku.2_Silent_p.K588K NM_022087 NP_071370 Q8NCW6 GLT11_HUMAN Homo sapiens UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase 11 (GalNAc-T11) (GALNT11), mRNA. 588 Ricin B-type lectin. Golgi membrane|integral to membrane polypeptide N-acetylgalactosaminyltransferase activity|sugar binding breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(5)|lung(7)|prostate(5)|skin(2) 27 all_neural(206;0.187) all_hematologic(28;0.0592)|Prostate(32;0.214) OV - Ovarian serous cystadenocarcinoma(82;0.00168) UCEC - Uterine corpus endometrioid carcinoma (81;0.177)|BRCA - Breast invasive adenocarcinoma(188;0.0932) TGGGTCAGAAGGGCTCTGTCG 0.517000 38 24 0 0 0.000720815 0 0 LGMN 5641 broad.mit.edu 37 14 93183727 93183727 + Nonsense_Mutation SNP C A A TCGA-EE-A3AC-06A-11D-A196-08 TCGA-EE-A3AC-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 883d623b-c427-4444-9ee3-66d18648130f f8f00311-8db5-4187-bcb8-5054d9fbdac3 g.chr14:93183727C>A uc001yav.3 - 4 677 c.316G>T c.(316-318)Gag>Tag p.E106* LGMN_uc001yat.3_Nonsense_Mutation_p.E106*|LGMN_uc001yau.3_Nonsense_Mutation_p.E106*|LGMN_uc001yaw.3_Nonsense_Mutation_p.E106* NM_001008530 NP_005597 Q99538 LGMN_HUMAN Homo sapiens legumain (LGMN), transcript variant 2, mRNA. 106 hormone biosynthetic process|negative regulation of neuron apoptosis|vitamin D metabolic process lysosome cysteine-type endopeptidase activity|protein serine/threonine kinase activity endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(5)|skin(2) 18 all_cancers(154;0.0706) COAD - Colon adenocarcinoma(157;0.224) CCACTCACCTCTCCAGTGTAG 0.443000 63 41 9.58827e-17 4.42157e-16 0.000781405 1 0 TBC1D3P5 440419 broad.mit.edu 37 17 25757077 25757077 + RNA SNP G A A TCGA-EE-A3AC-06A-11D-A196-08 TCGA-EE-A3AC-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 883d623b-c427-4444-9ee3-66d18648130f f8f00311-8db5-4187-bcb8-5054d9fbdac3 g.chr17:25757077G>A uc021ttg.1 + 6 c.2374G>A TBC1D3P5_uc002gzg.3_Non-coding_Transcript Homo sapiens TBC1 domain family, member 3 pseudogene 5 (TBC1D3P5), non-coding RNA. TTCCTGCAGTGGAACTCTATG 0.627000 4 3 0 0 0.000602214 0 0 PPP1R13L 10848 broad.mit.edu 37 19 45885952 45885952 + Missense_Mutation SNP C T T TCGA-EE-A3AC-06A-11D-A196-08 TCGA-EE-A3AC-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 883d623b-c427-4444-9ee3-66d18648130f f8f00311-8db5-4187-bcb8-5054d9fbdac3 g.chr19:45885952C>T uc002pbn.3 - 11 2358 c.2281G>A c.(2281-2283)Ggg>Agg p.G761R PPP1R13L_uc002pbm.3_Missense_Mutation_p.G340R|PPP1R13L_uc002pbo.3_Missense_Mutation_p.G761R NM_006663 NP_006654 Q8WUF5 IASPP_HUMAN Homo sapiens protein phosphatase 1, regulatory subunit 13 like (PPP1R13L), transcript variant 2, mRNA. 761 SH3. apoptosis|regulation of transcription, DNA-dependent|transcription, DNA-dependent cytoplasm|nucleus transcription corepressor activity|transcription factor binding breast(1)|endometrium(4)|kidney(1)|large_intestine(1)|lung(14)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 26 all_neural(266;0.224)|Ovarian(192;0.231) OV - Ovarian serous cystadenocarcinoma(262;0.0182) TACACTGCCCCGCTGTTCATC 0.672000 15 8 0 0 0.000442599 0 0 PRAMEF4 400735 broad.mit.edu 37 1 12939710 12939710 + Silent SNP G A A TCGA-EE-A3AC-06A-11D-A196-08 TCGA-EE-A3AC-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 883d623b-c427-4444-9ee3-66d18648130f f8f00311-8db5-4187-bcb8-5054d9fbdac3 g.chr1:12939710G>A uc001aun.2 - 3 1163 c.1092C>T c.(1090-1092)atC>atT p.I364I NM_001009611 NP_001009611 O60810 PRAM4_HUMAN Homo sapiens PRAME family member 4 (PRAMEF4), mRNA. 364 breast(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(10)|ovary(2)|prostate(3)|skin(1) 24 Ovarian(185;0.249) Lung NSC(185;3.67e-05)|all_lung(284;4.03e-05)|Renal(390;0.000147)|Breast(348;0.000278)|Colorectal(325;0.00058)|Ovarian(437;0.00965)|Hepatocellular(190;0.0245)|Myeloproliferative disorder(586;0.0255) UCEC - Uterine corpus endometrioid carcinoma (279;0.00812)|Colorectal(212;4.88e-06)|Kidney(185;4.89e-05)|KIRC - Kidney renal clear cell carcinoma(229;0.000194)|COAD - Colon adenocarcinoma(227;0.000241)|BRCA - Breast invasive adenocarcinoma(304;0.000293)|STAD - Stomach adenocarcinoma(313;0.0072)|READ - Rectum adenocarcinoma(331;0.0649) GGGAGTCTATGATGCCACAGT 0.512000 154 102 0 0 0.000781405 0 0 EXPH5 23086 broad.mit.edu 37 11 108409798 108409798 + Silent SNP C T T TCGA-EE-A3AC-06A-11D-A196-08 TCGA-EE-A3AC-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 883d623b-c427-4444-9ee3-66d18648130f f8f00311-8db5-4187-bcb8-5054d9fbdac3 g.chr11:108409798C>T uc001pkk.3 - 2 507 c.396G>A c.(394-396)agG>agA p.R132R EXPH5_uc010rvz.2_5'Flank|EXPH5_uc010rvy.2_5'Flank NM_015065 NP_055880 Q149M6 Q149M6_HUMAN Homo sapiens exophilin 5 (EXPH5), mRNA. 132 intracellular protein transport Rab GTPase binding breast(3)|central_nervous_system(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(13)|liver(1)|lung(34)|ovary(3)|pancreas(2)|prostate(2)|skin(11)|stomach(3)|upper_aerodigestive_tract(1) 91 all_cancers(61;3.99e-08)|Acute lymphoblastic leukemia(157;3.97e-05)|Melanoma(852;4.04e-05)|all_epithelial(67;0.000116)|all_hematologic(158;0.000315)|Breast(348;0.104)|all_neural(303;0.16) Epithelial(105;8.1e-06)|BRCA - Breast invasive adenocarcinoma(274;1.22e-05)|all cancers(92;0.000129)|OV - Ovarian serous cystadenocarcinoma(223;0.11)|Colorectal(284;0.184) TTCCAGATTTCCTGAATGAGA 0.423000 90 48 0 0 0.000781405 0 0 RAD23A 5886 broad.mit.edu 37 19 13059911 13059912 + Missense_Mutation DNP CC TT TT rs139644856 TCGA-EE-A3AC-06A-11D-A196-08 TCGA-EE-A3AC-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 883d623b-c427-4444-9ee3-66d18648130f f8f00311-8db5-4187-bcb8-5054d9fbdac3 g.chr19:13059911_13059912CC>TT uc002mvw.1 + 5 726_727 c.617_618CC>TT c.(616-618)ccc>cTT p.P206L RAD23A_uc002mvz.1_Missense_Mutation_p.P206L|RAD23A_uc010xmw.1_Missense_Mutation_p.P41L NM_005053 NP_005044 P54725 RD23A_HUMAN Homo sapiens RAD23 homolog A (S. cerevisiae) (RAD23A), mRNA. 206 interspecies interaction between organisms|nucleotide-excision repair|positive regulation of viral genome replication|proteasomal ubiquitin-dependent protein catabolic process|regulation of proteasomal ubiquitin-dependent protein catabolic process nucleus|proteasome complex damaged DNA binding|polyubiquitin binding|single-stranded DNA binding central_nervous_system(1)|endometrium(2)|large_intestine(3)|lung(2)|ovary(2)|prostate(1)|skin(1) 12 CCTGGGAGCCCCGAGCCGGAAC 0.624000 Nucleotide excision repair (NER) 8 4 0 0 6.4e-05 0 0 GYPC 2995 broad.mit.edu 37 2 127453565 127453565 + Silent SNP C T T TCGA-EE-A3AC-06A-11D-A196-08 TCGA-EE-A3AC-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 883d623b-c427-4444-9ee3-66d18648130f f8f00311-8db5-4187-bcb8-5054d9fbdac3 g.chr2:127453565C>T uc002tnq.3 + 3 390 c.234C>T c.(232-234)ttC>ttT p.F78F GYPC_uc002tnr.3_Silent_p.F59F|GYPC_uc010flv.3_Non-coding_Transcript NM_002101 NP_002092 P04921 GLPC_HUMAN Homo sapiens glycophorin C (Gerbich blood group) (GYPC), transcript variant 1, mRNA. 78 cortical cytoskeleton|integral to plasma membrane protein binding central_nervous_system(1)|kidney(1)|large_intestine(2)|liver(1)|lung(5)|prostate(2)|urinary_tract(1) 13 Colorectal(110;0.0533) BRCA - Breast invasive adenocarcinoma(221;0.075) CCCTCCTCTTCGTCATGCTGC 0.612000 65 37 0 0 0.000781405 0 0 MUC16 94025 broad.mit.edu 37 19 9064305 9064305 + Missense_Mutation SNP G A A TCGA-EE-A3AC-06A-11D-A196-08 TCGA-EE-A3AC-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 883d623b-c427-4444-9ee3-66d18648130f f8f00311-8db5-4187-bcb8-5054d9fbdac3 g.chr19:9064305G>A uc002mkp.3 - 2 23345 c.23141C>T c.(23140-23142)cCc>cTc p.P7714L NM_024690 NP_078966 Q8WXI7 MUC16_HUMAN Homo sapiens mucin 16, cell surface associated (MUC16), mRNA. 7716 Ser-rich.|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 CACAGGAAGGGGAGAGGGGGG 0.537000 13 11 0 0 0.000978159 0 0 LNPEP 4012 broad.mit.edu 37 5 96315503 96315504 + Nonsense_Mutation DNP CC TT TT TCGA-EE-A3AC-06A-11D-A196-08 TCGA-EE-A3AC-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 883d623b-c427-4444-9ee3-66d18648130f f8f00311-8db5-4187-bcb8-5054d9fbdac3 g.chr5:96315503_96315504CC>TT uc003kmv.1 + 1 1195_1196 c.681_682CC>TT c.(679-684)agccaa>agTTaa p.Q228* LNPEP_uc003kmw.1_Nonsense_Mutation_p.Q214* NM_005575 NP_787116 Q9UIQ6 LCAP_HUMAN Homo sapiens leucyl/cystinyl aminopeptidase (LNPEP), transcript variant 1, mRNA. 228 cell-cell signaling|female pregnancy|proteolysis extracellular region|integral to plasma membrane aminopeptidase activity|metallopeptidase activity|zinc ion binding breast(2)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(9)|lung(10)|ovary(3)|skin(1)|urinary_tract(1) 34 all_cancers(142;7e-07)|all_epithelial(76;9.52e-10)|all_lung(232;0.00101)|Lung NSC(167;0.00137)|Ovarian(225;0.024)|Colorectal(57;0.0269)|Breast(839;0.244) COAD - Colon adenocarcinoma(37;0.072) CAGTTTCAAGCCAAGAAAAACA 0.421000 9 9 0 0 6.4e-05 0 0 ZNF608 57507 broad.mit.edu 37 5 123983901 123983901 + Missense_Mutation SNP C T T TCGA-EE-A3AC-06A-11D-A196-08 TCGA-EE-A3AC-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 883d623b-c427-4444-9ee3-66d18648130f f8f00311-8db5-4187-bcb8-5054d9fbdac3 g.chr5:123983901C>T uc003ktq.1 - 3 2359 c.2176G>A c.(2176-2178)Gac>Aac p.D726N ZNF608_uc003ktr.1_Intron|ZNF608_uc003kts.1_Missense_Mutation_p.D726N|ZNF608_uc003ktt.1_Missense_Mutation_p.D726N NM_020747 NP_065798 Q9ULD9 ZN608_HUMAN Homo sapiens zinc finger protein 608 (ZNF608), mRNA. 726 intracellular zinc ion binding breast(4)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(8)|lung(12)|ovary(3)|skin(6)|urinary_tract(1) 46 all_cancers(142;0.186)|Prostate(80;0.081) KIRC - Kidney renal clear cell carcinoma(527;0.159)|Kidney(363;0.221) OV - Ovarian serous cystadenocarcinoma(64;0.00126)|Epithelial(69;0.00238)|all cancers(49;0.00783) AGGTTTTTGTCCGTTTTGCAG 0.473000 24 21 0 0 0.00121646 0 0 KLHL4 56062 broad.mit.edu 37 X 86890673 86890673 + Missense_Mutation SNP G A A TCGA-EE-A3AC-06A-11D-A196-08 TCGA-EE-A3AC-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 883d623b-c427-4444-9ee3-66d18648130f f8f00311-8db5-4187-bcb8-5054d9fbdac3 g.chrX:86890673G>A uc004efa.2 + 8 2005 c.1823G>A c.(1822-1824)gGa>gAa p.G608E KLHL4_uc004efb.2_Missense_Mutation_p.G608E NM_057162 NP_476503 Q9C0H6 KLHL4_HUMAN Homo sapiens kelch-like 4 (Drosophila) (KLHL4), transcript variant 2, mRNA. 608 cytoplasm|microtubule cytoskeleton|nucleolus actin binding NS(1)|biliary_tract(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(19)|lung(29)|ovary(2)|prostate(1)|skin(1) 67 AAAAGACGTGGAGGTGTGGGA 0.478000 5 21 0 0 0.00152264 0 0 DSG4 147409 broad.mit.edu 37 18 28980906 28980906 + Missense_Mutation SNP A G G TCGA-EE-A3AC-06A-11D-A196-08 TCGA-EE-A3AC-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 883d623b-c427-4444-9ee3-66d18648130f f8f00311-8db5-4187-bcb8-5054d9fbdac3 g.chr18:28980906A>G uc002kwr.2 + 9 1475 c.1340A>G c.(1339-1341)cAa>cGa p.Q447R DSG4_uc002kwq.2_Missense_Mutation_p.Q447R NM_001134453 NP_001127925 Q86SJ6 DSG4_HUMAN Homo sapiens desmoglein 4 (DSG4), transcript variant 1, mRNA. 447 Cadherin 4. homophilic cell adhesion desmosome|integral to membrane calcium ion binding p.Q447E(1) NS(1)|breast(1)|central_nervous_system(6)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(11)|liver(2)|lung(35)|ovary(4)|skin(1)|stomach(1)|urinary_tract(1) 70 OV - Ovarian serous cystadenocarcinoma(10;0.00504) GGTGAGATACAATTTTCTAGA 0.299000 51 36 0 0 0.00128727 0 0 ABCA3 21 broad.mit.edu 37 16 2376429 2376429 + Silent SNP C T T TCGA-EE-A3AC-06A-11D-A196-08 TCGA-EE-A3AC-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 883d623b-c427-4444-9ee3-66d18648130f f8f00311-8db5-4187-bcb8-5054d9fbdac3 g.chr16:2376429C>T uc002cpy.1 - 3 751 c.39G>A c.(37-39)aaG>aaA p.K13K ABCA3_uc010bsk.1_Silent_p.K13K|ABCA3_uc010bsl.1_Silent_p.K13K|ABCA3_uc002cpz.1_Silent_p.K13K NM_001089 NP_001080 Q99758 ABCA3_HUMAN Homo sapiens ATP-binding cassette, sub-family A (ABC1), member 3 (ABCA3), mRNA. 13 response to drug integral to membrane|lamellar body|membrane fraction|plasma membrane ATP binding|ATPase activity, coupled to transmembrane movement of substances breast(7)|central_nervous_system(4)|cervix(1)|endometrium(5)|kidney(2)|large_intestine(11)|liver(1)|lung(20)|ovary(7)|prostate(5)|skin(6)|upper_aerodigestive_tract(1) 70 Ovarian(90;0.17) GGGTGTAGTTCTTCCAGAGGA 0.612000 9 7 0 0 0.000157383 0 0 TPP2 7174 broad.mit.edu 37 13 103301765 103301765 + Missense_Mutation SNP A G G TCGA-EE-A3AC-06A-11D-A196-08 TCGA-EE-A3AC-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 883d623b-c427-4444-9ee3-66d18648130f f8f00311-8db5-4187-bcb8-5054d9fbdac3 g.chr13:103301765A>G uc001vpi.4 + 22 2984 c.2881A>G c.(2881-2883)Aaa>Gaa p.K961E NM_003291 NP_003282 P29144 TPP2_HUMAN Homo sapiens tripeptidyl peptidase II (TPP2), mRNA. 961 proteolysis cytoplasm|nucleus aminopeptidase activity|serine-type endopeptidase activity|tripeptidyl-peptidase activity breast(2)|endometrium(5)|kidney(2)|large_intestine(12)|lung(21)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(4)|urinary_tract(1) 52 all_neural(89;0.0438)|Medulloblastoma(90;0.163)|Lung SC(71;0.184) TAGAATACCTAAAGGGGCAGG 0.348000 33 15 0 0 0.000422831 0 0 PTPRT 11122 broad.mit.edu 37 20 40980811 40980811 + Missense_Mutation SNP C T T TCGA-EE-A3AC-06A-11D-A196-08 TCGA-EE-A3AC-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 883d623b-c427-4444-9ee3-66d18648130f f8f00311-8db5-4187-bcb8-5054d9fbdac3 g.chr20:40980811C>T uc002xkg.3 - 9 1859 c.1675G>A c.(1675-1677)Ggg>Agg p.G559R PTPRT_uc010ggj.3_Missense_Mutation_p.G559R NM_007050 NP_008981 O14522 PTPRT_HUMAN Homo sapiens protein tyrosine phosphatase, receptor type, T (PTPRT), transcript variant 2, mRNA. 559 Fibronectin type-III 3. homophilic cell adhesion|transmembrane receptor protein tyrosine kinase signaling pathway cell surface|integral to membrane|plasma membrane alpha-catenin binding|beta-catenin binding|cadherin binding|delta-catenin binding|gamma-catenin binding|protein tyrosine phosphatase activity|receptor activity NS(2)|breast(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(4)|kidney(12)|large_intestine(26)|liver(1)|lung(63)|ovary(8)|pancreas(2)|prostate(5)|skin(35)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(3) 176 Myeloproliferative disorder(115;0.00452)|Lung NSC(126;0.0573)|all_lung(126;0.0783) TAGGTGGTCCCTGGGTACAGA 0.562000 31 71 0 0 0.000781405 0 0 NOC2L 26155 broad.mit.edu 37 1 883570 883570 + Silent SNP G A A TCGA-EE-A3AC-06A-11D-A196-08 TCGA-EE-A3AC-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 883d623b-c427-4444-9ee3-66d18648130f f8f00311-8db5-4187-bcb8-5054d9fbdac3 g.chr1:883570G>A uc009vjq.3 - 13 1659 c.1600C>T c.(1600-1602)Ctg>Ttg p.L534L NOC2L_uc001aby.4_Silent_p.L331L|NOC2L_uc001abz.4_Silent_p.L534L NM_015658 NP_056473 Q9Y3T9 NOC2L_HUMAN Homo sapiens nucleolar complex associated 2 homolog (S. cerevisiae) (NOC2L), mRNA. 534 nucleolus protein binding endometrium(2)|kidney(1)|large_intestine(2)|lung(6)|ovary(2)|skin(2)|urinary_tract(1) 16 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) UCEC - Uterine corpus endometrioid carcinoma (11;0.00459)|Epithelial(90;1.86e-38)|OV - Ovarian serous cystadenocarcinoma(86;6.08e-23)|Colorectal(212;0.000161)|COAD - Colon adenocarcinoma(227;0.000194)|BRCA - Breast invasive adenocarcinoma(365;0.000475)|Kidney(185;0.00231)|STAD - Stomach adenocarcinoma(132;0.00644)|KIRC - Kidney renal clear cell carcinoma(229;0.0344)|Lung(427;0.2) TGGCTGTGCAGGTACTCCAGG 0.657000 9 4 0 0 0.00116845 0 0 TMEM63C 57156 broad.mit.edu 37 14 77718135 77718135 + Missense_Mutation SNP C T T TCGA-EE-A3AC-06A-11D-A196-08 TCGA-EE-A3AC-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 883d623b-c427-4444-9ee3-66d18648130f f8f00311-8db5-4187-bcb8-5054d9fbdac3 g.chr14:77718135C>T uc001xtf.2 + 21 2254 c.2042C>T c.(2041-2043)tCt>tTt p.S681F TMEM63C_uc010asq.1_Missense_Mutation_p.S681F NM_020431 NP_065164 Q9P1W3 TM63C_HUMAN Homo sapiens transmembrane protein 63C (TMEM63C), mRNA. 681 integral to membrane breast(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(11)|ovary(1)|skin(1) 23 Kidney(204;0.164) BRCA - Breast invasive adenocarcinoma(234;0.0342) TCGGCAGGTTCTCTCCACGCC 0.572000 43 43 0 0 0.000781405 0 0 MRPS6 64968 broad.mit.edu 37 21 35514810 35514811 + Missense_Mutation DNP CC TT TT TCGA-EE-A3AC-06A-11D-A196-08 TCGA-EE-A3AC-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 883d623b-c427-4444-9ee3-66d18648130f f8f00311-8db5-4187-bcb8-5054d9fbdac3 g.chr21:35514810_35514811CC>TT uc002ytp.2 + 2 466_467 c.288_289CC>TT c.(286-291)caccct>caTTct p.P97S NM_032476 NP_115865 P82932 RT06_HUMAN Homo sapiens mitochondrial ribosomal protein S6 (MRPS6), nuclear gene encoding mitochondrial protein, mRNA. 97 translation mitochondrion|small ribosomal subunit rRNA binding|structural constituent of ribosome haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(2)|pancreas(1)|skin(1) 6 TTGTCAAACACCCTCTGACCCA 0.436000 217 120 0 0 6.4e-05 0 0 DNAJC8 22826 broad.mit.edu 37 1 28537130 28537130 + Missense_Mutation SNP G A A TCGA-EE-A3AC-06A-11D-A196-08 TCGA-EE-A3AC-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 883d623b-c427-4444-9ee3-66d18648130f f8f00311-8db5-4187-bcb8-5054d9fbdac3 g.chr1:28537130G>A uc001bpn.3 - 3 289 c.256C>T c.(256-258)Cct>Tct p.P86S DNAJC8_uc001bpo.3_Non-coding_Transcript NM_014280 NP_055095 O75937 DNJC8_HUMAN Homo sapiens DnaJ (Hsp40) homolog, subfamily C, member 8 (DNAJC8), mRNA. 86 J. nuclear mRNA splicing, via spliceosome|protein folding nucleoplasm heat shock protein binding|unfolded protein binding kidney(1)|large_intestine(3)|lung(2) 6 Colorectal(325;3.46e-05)|Lung NSC(340;4.08e-05)|all_lung(284;4.29e-05)|Renal(390;0.00121)|Breast(348;0.00345)|Ovarian(437;0.0105)|all_neural(195;0.0208)|Myeloproliferative disorder(586;0.0255) OV - Ovarian serous cystadenocarcinoma(117;2.81e-22)|Colorectal(126;2.99e-08)|COAD - Colon adenocarcinoma(152;1.7e-06)|KIRC - Kidney renal clear cell carcinoma(1967;0.00275)|BRCA - Breast invasive adenocarcinoma(304;0.0059)|STAD - Stomach adenocarcinoma(196;0.00671)|READ - Rectum adenocarcinoma(331;0.0649) TTTTTGTCAGGATGCACCAAG 0.398000 98 64 0 0 0.000781405 0 0 GPR52 9293 broad.mit.edu 37 1 174418005 174418005 + RNA SNP C T T TCGA-EE-A3AC-06A-11D-A196-08 TCGA-EE-A3AC-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 883d623b-c427-4444-9ee3-66d18648130f f8f00311-8db5-4187-bcb8-5054d9fbdac3 g.chr1:174418005C>T uc010pmu.1 - 0 c.330G>A RABGAP1L_uc001gjw.3_Intron|RABGAP1L_uc001gjx.3_Intron|RABGAP1L_uc001gjy.3_Intron|RABGAP1L_uc001gjz.3_Intron|GPR52_uc001gka.1_Silent_p.S252S Q9Y2T5 GPR52_HUMAN Synthetic construct Homo sapiens gateway clone IMAGE:100022628 3' read GPR52 mRNA. integral to plasma membrane G-protein coupled receptor activity breast(3)|kidney(3)|large_intestine(3)|liver(1)|lung(7)|prostate(1)|skin(2) 20 TAGATTCTTCCAGAGAGACTG 0.438000 76 34 0 0 0.00058488 0 0 SERPINB12 89777 broad.mit.edu 37 18 61234240 61234240 + Missense_Mutation SNP C T T TCGA-EE-A3AC-06A-11D-A196-08 TCGA-EE-A3AC-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 883d623b-c427-4444-9ee3-66d18648130f f8f00311-8db5-4187-bcb8-5054d9fbdac3 g.chr18:61234240C>T uc010xeo.2 + 6 1274 c.1274C>T c.(1273-1275)cCt>cTt p.P425L SERPINB12_uc010xen.2_Missense_Mutation_p.P405L NM_080474 NP_536722 Q96P63 SPB12_HUMAN Homo sapiens serpin peptidase inhibitor, clade B (ovalbumin), member 12 (SERPINB12), mRNA. 405 negative regulation of protein catabolic process|regulation of proteolysis cytoplasm enzyme binding|serine-type endopeptidase inhibitor activity kidney(1)|large_intestine(5)|lung(19)|skin(1) 26 GTCTGCTCTCCTTAAAAGGGG 0.413000 41 21 0 0 0.00188189 0 0 CCR1 1230 broad.mit.edu 37 3 46245543 46245543 + Missense_Mutation SNP G A A TCGA-EE-A3AC-06A-11D-A196-08 TCGA-EE-A3AC-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 883d623b-c427-4444-9ee3-66d18648130f f8f00311-8db5-4187-bcb8-5054d9fbdac3 g.chr3:46245543G>A uc003cph.1 - 1 333 c.262C>T c.(262-264)Ccc>Tcc p.P88S CCR3_uc003cpg.2_Intron|CCR1_uc021wwy.1_Missense_Mutation_p.P88S NM_001295 NP_001286 P32246 CCR1_HUMAN Homo sapiens chemokine (C-C motif) receptor 1 (CCR1), mRNA. 88 G-protein signaling, coupled to cyclic nucleotide second messenger|cell adhesion|cell-cell signaling|cytokine-mediated signaling pathway|dendritic cell chemotaxis|elevation of cytosolic calcium ion concentration|immune response|inflammatory response integral to plasma membrane C-C chemokine receptor activity autonomic_ganglia(1)|large_intestine(6)|lung(6)|pancreas(1)|skin(3) 17 BRCA - Breast invasive adenocarcinoma(193;0.00113)|KIRC - Kidney renal clear cell carcinoma(197;0.0172)|Kidney(197;0.0203) ATCCAGAAGGGAAGCGTGAAC 0.478000 46 51 0 0 0.000781405 0 0 OR10A5 144124 broad.mit.edu 37 11 6866924 6866924 + Missense_Mutation SNP G A A TCGA-EE-A3AC-06A-11D-A196-08 TCGA-EE-A3AC-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 883d623b-c427-4444-9ee3-66d18648130f f8f00311-8db5-4187-bcb8-5054d9fbdac3 g.chr11:6866924G>A uc001met.1 + 0 11 c.11G>A c.(10-12)gGa>gAa p.G4E NM_178168 NP_835462 Q9H207 O10A5_HUMAN Homo sapiens olfactory receptor, family 10, subfamily A, member 5 (OR10A5), mRNA. 4 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity endometrium(1)|kidney(2)|large_intestine(1)|lung(12)|ovary(1)|skin(2)|urinary_tract(2) 21 Medulloblastoma(188;0.0523)|all_neural(188;0.236) Epithelial(150;4.68e-08)|BRCA - Breast invasive adenocarcinoma(625;0.129) ATGGCTATAGGAAACTGGACA 0.383000 68 46 0 0 0.000781405 0 0 XIRP2 129446 broad.mit.edu 37 2 168104863 168104863 + Missense_Mutation SNP G A A TCGA-EE-A3AC-06A-11D-A196-08 TCGA-EE-A3AC-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 883d623b-c427-4444-9ee3-66d18648130f f8f00311-8db5-4187-bcb8-5054d9fbdac3 g.chr2:168104863G>A uc002udx.3 + 8 7050 c.6961G>A c.(6961-6963)Gaa>Aaa p.E2321K XIRP2_uc010fpn.3_Intron|XIRP2_uc010fpo.3_Intron|XIRP2_uc002udy.3_Missense_Mutation_p.E2146K|XIRP2_uc010fpq.3_Missense_Mutation_p.E2099K|XIRP2_uc010fpr.3_Intron NM_152381 NP_689594 A4UGR9 XIRP2_HUMAN Homo sapiens xin actin-binding repeat containing 2 (XIRP2), transcript variant 1, mRNA. 2146 actin cytoskeleton organization cell junction actin binding NS(3)|biliary_tract(2)|breast(5)|cervix(3)|endometrium(16)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(51)|lung(160)|ovary(7)|pancreas(3)|prostate(11)|skin(14)|stomach(5)|upper_aerodigestive_tract(8)|urinary_tract(7) 315 GATGTTTCCTGAAAAAAATGG 0.468000 32 14 0 0 0.00074312 0 0 MTTP 4547 broad.mit.edu 37 4 100532325 100532325 + Missense_Mutation SNP G A A TCGA-EE-A3AC-06A-11D-A196-08 TCGA-EE-A3AC-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 883d623b-c427-4444-9ee3-66d18648130f f8f00311-8db5-4187-bcb8-5054d9fbdac3 g.chr4:100532325G>A uc011cej.2 + 12 1889 c.1876G>A c.(1876-1878)Gaa>Aaa p.E626K MTTP_uc003hvc.4_Missense_Mutation_p.E599K NM_000253 NP_000244 P55157 MTP_HUMAN Homo sapiens microsomal triglyceride transfer protein (MTTP), mRNA. 599 Vitellogenin. lipid metabolic process|lipoprotein metabolic process endoplasmic reticulum lumen lipid binding|lipid transporter activity p.R626C(1)|p.R626S(1) breast(3)|central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(14)|lung(19)|ovary(4)|prostate(5)|skin(1)|urinary_tract(1) 57 OV - Ovarian serous cystadenocarcinoma(123;6.04e-09) Hesperetin(DB01094) AGTTCTGAAGGAAATGGTCGC 0.398000 32 37 0 0 0.000589545 0 0 MGAM 8972 broad.mit.edu 37 7 141730237 141730237 + Missense_Mutation SNP T C C TCGA-EE-A3AC-06A-11D-A196-08 TCGA-EE-A3AC-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 883d623b-c427-4444-9ee3-66d18648130f f8f00311-8db5-4187-bcb8-5054d9fbdac3 g.chr7:141730237T>C uc003vwy.3 + 10 1351 c.1297T>C c.(1297-1299)Ttc>Ctc p.F433L NM_004668 NP_004659 O43451 MGA_HUMAN Homo sapiens maltase-glucoamylase (alpha-glucosidase) (MGAM), mRNA. 433 Maltase. polysaccharide digestion|starch catabolic process apical plasma membrane|integral to membrane carbohydrate binding|glucan 1,4-alpha-glucosidase activity|maltose alpha-glucosidase activity cervix(1)|endometrium(1)|large_intestine(4)|lung(3)|ovary(2)|skin(2) 13 Melanoma(164;0.0272) Acarbose(DB00284)|Miglitol(DB00491)|Voglibose(DB04878) TTTTAAAGGCTTCCCTGAATT 0.388000 17 6 0 0 0.000157383 0 0 HS3ST2 9956 broad.mit.edu 37 16 22926467 22926467 + Missense_Mutation SNP G A A TCGA-EE-A3AC-06A-11D-A196-08 TCGA-EE-A3AC-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 883d623b-c427-4444-9ee3-66d18648130f f8f00311-8db5-4187-bcb8-5054d9fbdac3 g.chr16:22926467G>A uc002dli.3 + 1 760 c.688G>A c.(688-690)Ggc>Agc p.G230S NM_006043 NP_006034 Q9Y278 HS3S2_HUMAN Homo sapiens heparan sulfate (glucosamine) 3-O-sulfotransferase 2 (HS3ST2), mRNA. 230 Golgi membrane|integral to membrane [heparan sulfate]-glucosamine 3-sulfotransferase 2 activity breast(2)|kidney(1)|large_intestine(5)|liver(2)|lung(5)|ovary(1)|pancreas(2)|skin(1) 19 GBM - Glioblastoma multiforme(48;0.0299) GACCTTTGAGGGCCTCTCCTT 0.602000 50 35 0 0 0.00195071 0 0 SEC16B 89866 broad.mit.edu 37 1 177906553 177906553 + Silent SNP G A A TCGA-EE-A3AC-06A-11D-A196-08 TCGA-EE-A3AC-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 883d623b-c427-4444-9ee3-66d18648130f f8f00311-8db5-4187-bcb8-5054d9fbdac3 g.chr1:177906553G>A uc001glj.1 - 23 3168 c.2302C>T c.(2302-2304)Ctg>Ttg p.L768L SEC16B_uc001glk.1_Silent_p.L444L|SEC16B_uc009wwy.1_Silent_p.L322L|SEC16B_uc001glh.1_Silent_p.L426L|SEC16B_uc001gli.1_Silent_p.L767L|SEC16B_uc009wwz.1_Silent_p.L426L NM_033127 NP_149118 Q96JE7 SC16B_HUMAN Homo sapiens SEC16 homolog B (S. cerevisiae) (SEC16B), mRNA. 767 protein transport|vesicle-mediated transport Golgi membrane|endoplasmic reticulum membrane p.L768L(1) central_nervous_system(1)|endometrium(7)|kidney(1)|large_intestine(7)|lung(14)|ovary(3)|skin(1)|stomach(1) 35 GGCTGGAGCAGGCAGGTCTGC 0.602000 16 4 0 0 0.00024832 0 0 CRELD2 79174 broad.mit.edu 37 22 50313429 50313429 + Silent SNP C T T TCGA-EE-A3AC-06A-11D-A196-08 TCGA-EE-A3AC-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 883d623b-c427-4444-9ee3-66d18648130f f8f00311-8db5-4187-bcb8-5054d9fbdac3 g.chr22:50313429C>T uc010hal.2 + 2 399 c.264C>T c.(262-264)ttC>ttT p.F88F ALG12_uc003biy.3_5'Flank|CRELD2_uc003biz.3_Silent_p.F88F|CRELD2_uc010haj.3_Silent_p.F88F|CRELD2_uc003bja.2_Silent_p.F88F|CRELD2_uc010hak.2_Silent_p.F88F|CRELD2_uc010ham.2_Silent_p.F88F NM_001135101 NP_001128573 Q6UXH1 CREL2_HUMAN Homo sapiens cysteine-rich with EGF-like domains 2 (CRELD2), transcript variant 1, mRNA. 88 endoplasmic reticulum|extracellular region calcium ion binding endometrium(1)|large_intestine(1)|lung(3)|ovary(1)|stomach(3) 9 all_cancers(38;5.53e-07)|all_epithelial(38;3.84e-06)|all_lung(38;0.00208)|Breast(42;0.0104)|Lung NSC(38;0.0199)|Ovarian(80;0.0907)|Lung SC(80;0.236) BRCA - Breast invasive adenocarcinoma(115;0.198)|LUAD - Lung adenocarcinoma(64;0.247) GCAGCGACTTCGAATGCAATC 0.572000 26 10 0 0 0.00136819 0 0 NLRP7 199713 broad.mit.edu 37 19 55447723 55447723 + Silent SNP G A A TCGA-EE-A3AC-06A-11D-A196-08 TCGA-EE-A3AC-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 883d623b-c427-4444-9ee3-66d18648130f f8f00311-8db5-4187-bcb8-5054d9fbdac3 g.chr19:55447723G>A uc002qih.4 - 5 2282 c.2206C>T c.(2206-2208)Ctg>Ttg p.L736L NLRP7_uc010esk.3_Silent_p.L736L|NLRP7_uc002qig.4_Silent_p.L708L|NLRP7_uc002qii.4_Silent_p.L736L|NLRP7_uc010esl.3_Silent_p.L764L NM_206828 NP_996611 Q8WX94 NALP7_HUMAN Homo sapiens NLR family, pyrin domain containing 7 (NLRP7), transcript variant 2, mRNA. 736 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) GCCAGGGTCAGGTGCGTGAGG 0.527000 36 19 0 0 0.00074312 0 0 CDX1 1044 broad.mit.edu 37 5 149563195 149563195 + Silent SNP C T T TCGA-EE-A3AC-06A-11D-A196-08 TCGA-EE-A3AC-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 883d623b-c427-4444-9ee3-66d18648130f f8f00311-8db5-4187-bcb8-5054d9fbdac3 g.chr5:149563195C>T uc003lrq.3 + 2 846 c.750C>T c.(748-750)ctC>ctT p.L250L NM_001804 NP_001795 P47902 CDX1_HUMAN Homo sapiens caudal type homeobox 1 (CDX1), mRNA. 250 nucleus sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity central_nervous_system(1)|kidney(2)|lung(1)|ovary(1) 5 all_hematologic(541;0.224) KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101) ACACCAGCCTCCTGGCCACCT 0.682000 13 6 0 0 0.000157383 0 0 VPS25 84313 broad.mit.edu 37 17 40926710 40926710 + Silent SNP G A A TCGA-EE-A3AC-06A-11D-A196-08 TCGA-EE-A3AC-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 883d623b-c427-4444-9ee3-66d18648130f f8f00311-8db5-4187-bcb8-5054d9fbdac3 g.chr17:40926710G>A uc002ibi.3 + 2 286 c.246G>A c.(244-246)agG>agA p.R82R NM_032353 NP_115729 Q9BRG1 VPS25_HUMAN Homo sapiens vacuolar protein sorting 25 homolog (S. cerevisiae) (VPS25), mRNA. 82 cellular membrane organization|endosome transport|protein transport|regulation of transcription, DNA-dependent|transcription, DNA-dependent cytosol|endosome membrane|nucleoplasm breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(1) 5 Breast(137;0.00104) BRCA - Breast invasive adenocarcinoma(366;0.0745) AGGAACTGAGGAAGAAAGGTG 0.398000 28 21 0 0 0.000375601 0 0 SULT6B1 391365 broad.mit.edu 37 2 37415630 37415630 + Missense_Mutation SNP C T T TCGA-EE-A3AC-06A-11D-A196-08 TCGA-EE-A3AC-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 883d623b-c427-4444-9ee3-66d18648130f f8f00311-8db5-4187-bcb8-5054d9fbdac3 g.chr2:37415630C>T uc002rpu.3 - 0 61 c.40G>A c.(40-42)Gaa>Aaa p.E14K SULT6B1_uc010yni.2_Non-coding_Transcript|SULT6B1_uc002rpv.3_Non-coding_Transcript|SULT6B1_uc010fae.2_Non-coding_Transcript|SULT6B1_uc010faf.2_Non-coding_Transcript|SULT6B1_uc002rpw.3_Non-coding_Transcript|SULT6B1_uc010fag.2_Non-coding_Transcript NM_001032377 NP_001027549 Q6IMI4 ST6B1_HUMAN Homo sapiens sulfotransferase family, cytosolic, 6B, member 1 (SULT6B1), mRNA. 52 cytoplasm sulfotransferase activity NS(1)|breast(1)|central_nervous_system(1)|large_intestine(3)|lung(5)|ovary(1) 12 all_hematologic(82;0.248) TGTCTGGCTTCGAAGGTGTCC 0.448000 58 35 0 0 0.00195071 0 0 CD300A 11314 broad.mit.edu 37 17 72469840 72469840 + Missense_Mutation SNP G A A TCGA-EE-A3AC-06A-11D-A196-08 TCGA-EE-A3AC-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 883d623b-c427-4444-9ee3-66d18648130f f8f00311-8db5-4187-bcb8-5054d9fbdac3 g.chr17:72469840G>A uc002jkv.3 + 1 527 c.206G>A c.(205-207)gGa>gAa p.G69E CD300A_uc002jkw.3_Intron|CD300A_uc010dfr.3_Intron|CD300A_uc010dfs.3_Intron NM_007261 NP_009192 Q9UGN4 CLM8_HUMAN Homo sapiens CD300a molecule (CD300A), mRNA. 69 Ig-like V-type. cell adhesion integral to membrane|plasma membrane receptor activity breast(1)|endometrium(1)|large_intestine(3)|lung(5)|ovary(1)|skin(4)|urinary_tract(1) 16 GGGTCAGCAGGAAAAAGGAAC 0.517000 35 42 0 0 0.000589545 0 0 OBSCN 84033 broad.mit.edu 37 1 228565642 228565642 + Silent SNP C T T TCGA-EE-A3AC-06A-11D-A196-08 TCGA-EE-A3AC-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 883d623b-c427-4444-9ee3-66d18648130f f8f00311-8db5-4187-bcb8-5054d9fbdac3 g.chr1:228565642C>T uc009xez.1 + 102 23558 c.23514C>T c.(23512-23514)ctC>ctT p.L7838L OBSCN_uc001hsr.1_Silent_p.L2467L NM_001098623 NP_001092093 Q5VST9 OBSCN_HUMAN Homo sapiens obscurin, cytoskeletal calmodulin and titin-interacting RhoGEF (OBSCN), transcript variant 2, mRNA. 7838 Protein kinase 2. 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 M band|Z disc|cytosol ATP binding|Rho guanyl-nucleotide exchange factor activity|metal ion binding|protein binding|protein serine/threonine kinase activity|protein tyrosine kinase 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) CTCCAGAGCTCCTGGAGGGCC 0.622000 33 10 0 0 0.00136819 0 0 CPT1B 1375 broad.mit.edu 37 22 51011432 51011433 + Missense_Mutation DNP GG AA AA TCGA-EE-A3AC-06A-11D-A196-08 TCGA-EE-A3AC-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 883d623b-c427-4444-9ee3-66d18648130f f8f00311-8db5-4187-bcb8-5054d9fbdac3 g.chr22:51011432_51011433GG>AA uc003bmm.3 - 10 1322_1323 c.1223_1224CC>TT c.(1222-1224)gcc>gTT p.A408V CPT1B_uc003bmk.4_Missense_Mutation_p.A408V|CPT1B_uc003bml.3_Missense_Mutation_p.A408V|CPT1B_uc003bmo.3_Missense_Mutation_p.A408V|CPT1B_uc011asa.2_Missense_Mutation_p.A374V|CPT1B_uc003bmn.3_Missense_Mutation_p.A408V|CPT1B_uc011asb.2_Intron|CPT1B_uc003bmp.3_Missense_Mutation_p.A205V|CPT1B_uc021wsc.1_Non-coding_Transcript NM_004377 NP_689452 Q92523 CPT1B_HUMAN Homo sapiens carnitine palmitoyltransferase 1B (muscle) (CPT1B), nuclear gene encoding mitochondrial protein, transcript variant 1, mRNA. 408 carnitine shuttle|fatty acid beta-oxidation|regulation of fatty acid oxidation integral to membrane|mitochondrial outer membrane carnitine O-palmitoyltransferase activity central_nervous_system(1)|endometrium(2)|large_intestine(5)|lung(7)|ovary(2)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(2) 22 all_cancers(38;8.8e-15)|all_epithelial(38;1.12e-12)|all_lung(38;3.07e-05)|Breast(42;6.27e-05)|Lung NSC(38;0.000813)|Ovarian(80;0.0221)|Hepatocellular(38;0.0691)|Lung SC(80;0.113) all cancers(3;3.56e-77)|OV - Ovarian serous cystadenocarcinoma(4;5.39e-74)|Epithelial(4;5.58e-70)|GBM - Glioblastoma multiforme(4;5.59e-08)|LUAD - Lung adenocarcinoma(64;0.0016)|Lung(4;0.00942)|BRCA - Breast invasive adenocarcinoma(115;0.207) TGGCCTCCAAGGCAGCCTTATT 0.599000 38 22 0 0 6.4e-05 0 0 MEFV 4210 broad.mit.edu 37 16 3294267 3294267 + Missense_Mutation SNP C T T TCGA-EE-A3AC-06A-11D-A196-08 TCGA-EE-A3AC-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 883d623b-c427-4444-9ee3-66d18648130f f8f00311-8db5-4187-bcb8-5054d9fbdac3 g.chr16:3294267C>T uc002cun.1 - 7 1786 c.1746G>A c.(1744-1746)atG>atA p.M582I MEFV_uc021tbw.1_Missense_Mutation_p.M371I|MEFV_uc021tbx.1_Missense_Mutation_p.M162I|MEFV_uc021tby.1_Missense_Mutation_p.M85I|MEFV_uc021tbz.1_Missense_Mutation_p.M1I|MEFV_uc021tca.1_Intron|MEFV_uc021tcb.1_Intron NM_000243 NP_000234 O15553 MEFV_HUMAN Homo sapiens Mediterranean fever (MEFV), transcript variant 1, mRNA. 582 B30.2/SPRY. inflammatory response cytoplasm|microtubule|microtubule associated complex|nucleus actin binding|zinc ion binding NS(2)|biliary_tract(1)|breast(5)|central_nervous_system(2)|endometrium(2)|kidney(3)|large_intestine(6)|lung(19)|ovary(3)|prostate(1)|skin(6) 50 Colchicine(DB01394) TGAACATTTCCATTTCTGAAC 0.517000 24 17 0 0 0.00188189 0 0 H6PD 9563 broad.mit.edu 37 1 9324773 9324773 + Nonsense_Mutation SNP A T T TCGA-EE-A3AC-06A-11D-A196-08 TCGA-EE-A3AC-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 883d623b-c427-4444-9ee3-66d18648130f f8f00311-8db5-4187-bcb8-5054d9fbdac3 g.chr1:9324773A>T uc001apt.3 + 4 2494 c.2221A>T c.(2221-2223)Aag>Tag p.K741* NM_004285 NP_004276 O95479 G6PE_HUMAN Homo sapiens hexose-6-phosphate dehydrogenase (glucose 1-dehydrogenase) (H6PD), mRNA. 741 6-phosphogluconolactonase. endoplasmic reticulum lumen 6-phosphogluconolactonase activity|NADP binding|glucose 1-dehydrogenase|glucose-6-phosphate dehydrogenase activity breast(1)|endometrium(2)|kidney(2)|large_intestine(5)|lung(11)|ovary(1)|upper_aerodigestive_tract(1) 23 all_lung(157;0.23) all_epithelial(116;1.28e-19)|all_lung(118;5.22e-06)|Lung NSC(185;1.98e-05)|Renal(390;0.000147)|Breast(348;0.00109)|Colorectal(325;0.00205)|Hepatocellular(190;0.00825)|Ovarian(437;0.0228)|Myeloproliferative disorder(586;0.0255) UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;1.88e-07)|COAD - Colon adenocarcinoma(227;7.47e-05)|Kidney(185;0.000244)|KIRC - Kidney renal clear cell carcinoma(229;0.000905)|STAD - Stomach adenocarcinoma(132;0.00176)|BRCA - Breast invasive adenocarcinoma(304;0.00183)|READ - Rectum adenocarcinoma(331;0.0419) NADH(DB00157) CCGCGCCAAGAAGGTGGCAGT 0.647000 20 10 0 0 0.00136819 0 0 PCDHB8 56128 broad.mit.edu 37 5 140559641 140559641 + Missense_Mutation SNP G A A TCGA-EE-A3AC-06A-11D-A196-08 TCGA-EE-A3AC-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 883d623b-c427-4444-9ee3-66d18648130f f8f00311-8db5-4187-bcb8-5054d9fbdac3 g.chr5:140559641G>A uc011dai.2 + 0 2271 c.2026G>A c.(2026-2028)Gag>Aag p.E676K PCDHB16_uc003liv.3_5'Flank NM_019120 NP_061993 Q9UN66 PCDB8_HUMAN Homo sapiens protocadherin beta 8 (PCDHB8), mRNA. 676 homophilic cell adhesion integral to membrane|plasma membrane calcium ion binding NS(2)|breast(1)|cervix(2)|endometrium(5)|kidney(6)|large_intestine(14)|liver(1)|lung(38)|prostate(6)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(2) 83 KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339) GCCGCTTCCGGAGGCTGCCCC 0.667000 45 39 0 0 0.00148497 0 0 OLFML2B 25903 broad.mit.edu 37 1 161993142 161993142 + Missense_Mutation SNP C T T TCGA-EE-A3AC-06A-11D-A196-08 TCGA-EE-A3AC-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 883d623b-c427-4444-9ee3-66d18648130f f8f00311-8db5-4187-bcb8-5054d9fbdac3 g.chr1:161993142C>T uc010pkq.2 - 0 503 c.79G>A c.(79-81)Ggg>Agg p.G27R OLFML2B_uc001gbu.3_Missense_Mutation_p.G27R NM_015441 NP_056256 Q68BL8 OLM2B_HUMAN Homo sapiens olfactomedin-like 2B (OLFML2B), mRNA. 27 breast(1)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(11)|lung(22)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2) 48 all_hematologic(112;0.156) BRCA - Breast invasive adenocarcinoma(70;0.0172) TCGCTTGTCCCTGTGAGGACA 0.592000 29 40 0 0 0.00222228 0 0 GRIK5 2901 broad.mit.edu 37 19 42525574 42525574 + Missense_Mutation SNP G A A TCGA-EE-A3AC-06A-11D-A196-08 TCGA-EE-A3AC-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 883d623b-c427-4444-9ee3-66d18648130f f8f00311-8db5-4187-bcb8-5054d9fbdac3 g.chr19:42525574G>A uc002osj.1 - 13 1785 c.1750C>T c.(1750-1752)Cac>Tac p.H584Y GRIK5_uc002osi.1_Missense_Mutation_p.H156Y|GRIK5_uc010eib.1_Missense_Mutation_p.H503Y NM_002088 NP_002079 Q16478 GRIK5_HUMAN Homo sapiens glutamate receptor, ionotropic, kainate 5 (GRIK5), mRNA. 584 cell junction|postsynaptic membrane extracellular-glutamate-gated ion channel activity|kainate selective glutamate receptor activity breast(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|liver(1)|lung(11)|ovary(2)|prostate(3)|skin(1)|upper_aerodigestive_tract(1) 35 Prostate(69;0.059) L-Glutamic Acid(DB00142) TCCAGGATGTGGGGGCGTGCC 0.657000 13 9 0 0 0.000442599 0 0 CYP3A7 1551 broad.mit.edu 37 7 99308459 99308459 + Missense_Mutation SNP C T T TCGA-EE-A3AC-06A-11D-A196-08 TCGA-EE-A3AC-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 883d623b-c427-4444-9ee3-66d18648130f f8f00311-8db5-4187-bcb8-5054d9fbdac3 g.chr7:99308459C>T uc003uru.3 - 9 1025 c.922G>A c.(922-924)Gaa>Aaa p.E308K ZNF498_uc003urn.3_Intron|CYP3A7_uc003urs.3_Intron|CYP3A7_uc010lgg.3_Intron NM_000765 NP_000756 P24462 CP3A7_HUMAN Homo sapiens cytochrome P450, family 3, subfamily A, polypeptide 7 (CYP3A7), mRNA. 308 xenobiotic metabolic process endoplasmic reticulum membrane|microsome aromatase activity|electron carrier activity|heme binding|oxygen binding autonomic_ganglia(1)|breast(3)|endometrium(2)|kidney(1)|large_intestine(9)|lung(10)|ovary(1)|skin(4)|upper_aerodigestive_tract(1) 32 Lung NSC(181;0.0144)|Esophageal squamous(72;0.0166)|all_lung(186;0.0228) CTCGTGGTTTCATAGCCAGCA 0.408000 15 16 0 0 0.00074312 0 0 NEU2 4759 broad.mit.edu 37 2 233899231 233899231 + Missense_Mutation SNP G A A TCGA-EE-A3AC-06A-11D-A196-08 TCGA-EE-A3AC-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 883d623b-c427-4444-9ee3-66d18648130f f8f00311-8db5-4187-bcb8-5054d9fbdac3 g.chr2:233899231G>A uc010zmn.2 + 1 607 c.607G>A c.(607-609)Ggg>Agg p.G203R NM_005383 NP_005374 Q9Y3R4 NEUR2_HUMAN Homo sapiens sialidase 2 (cytosolic sialidase) (NEU2), mRNA. 203 exo-alpha-sialidase activity endometrium(3)|large_intestine(2)|lung(10)|skin(2)|urinary_tract(1) 18 Breast(86;0.00279)|Renal(207;0.00339)|all_hematologic(139;0.0116)|all_lung(227;0.0271)|Acute lymphoblastic leukemia(138;0.0326)|Lung NSC(271;0.0839) Epithelial(121;7.17e-17)|BRCA - Breast invasive adenocarcinoma(100;0.000311)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(119;0.00942)|GBM - Glioblastoma multiforme(43;0.0488) CCATGACCATGGGCGCACGTG 0.667000 29 20 0 0 0.00188189 0 0 ZNF808 388558 broad.mit.edu 37 19 53058004 53058004 + Missense_Mutation SNP C T T TCGA-EE-A3AC-06A-11D-A196-08 TCGA-EE-A3AC-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 883d623b-c427-4444-9ee3-66d18648130f f8f00311-8db5-4187-bcb8-5054d9fbdac3 g.chr19:53058004C>T uc010epq.1 + 4 2012 c.1835C>T c.(1834-1836)tCa>tTa p.S612L ZNF808_uc002pzq.2_Non-coding_Transcript|ZNF808_uc010epr.2_5'Flank NM_001039886 NP_001034975 Q8N4W9 ZN808_HUMAN Homo sapiens zinc finger protein 808 (ZNF808), mRNA. 612 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding endometrium(8)|kidney(3)|lung(12)|urinary_tract(1) 24 OV - Ovarian serous cystadenocarcinoma(262;0.00501)|GBM - Glioblastoma multiforme(134;0.0213) GCTCTTGAGTCACATAAGAGA 0.408000 39 25 0 0 0.00047179 0 0 STON2 85439 broad.mit.edu 37 14 81743422 81743422 + Missense_Mutation SNP C T T TCGA-EE-A3AC-06A-11D-A196-08 TCGA-EE-A3AC-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 883d623b-c427-4444-9ee3-66d18648130f f8f00311-8db5-4187-bcb8-5054d9fbdac3 g.chr14:81743422C>T uc010tvu.2 - 3 2431 c.2233G>A c.(2233-2235)Gaa>Aaa p.E745K STON2_uc001xvk.1_Missense_Mutation_p.E745K|STON2_uc010tvt.2_Missense_Mutation_p.E542K NM_033104 NP_149095 Q8WXE9 STON2_HUMAN Homo sapiens stonin 2 (STON2), transcript variant 1, mRNA. 745 MHD. endocytosis|intracellular protein transport|regulation of endocytosis clathrin adaptor complex|nucleolus protein binding breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|lung(13)|pancreas(2)|prostate(1)|skin(5) 34 BRCA - Breast invasive adenocarcinoma(234;0.0348) AGGACACTTTCCCTGCGGAAG 0.532000 56 32 0 0 0.000491102 0 0 LIPI 149998 broad.mit.edu 37 21 15538721 15538721 + Missense_Mutation SNP C T T TCGA-EE-A3AC-06A-11D-A196-08 TCGA-EE-A3AC-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 883d623b-c427-4444-9ee3-66d18648130f f8f00311-8db5-4187-bcb8-5054d9fbdac3 g.chr21:15538721C>T uc002yjm.3 - 4 768 c.758G>A c.(757-759)gGa>gAa p.G253E LIPI_uc021whg.1_Non-coding_Transcript|LIPI_uc010gkw.2_Intron|LIPI_uc021whh.1_Missense_Mutation_p.G232E|LIPI_uc021whi.1_Missense_Mutation_p.G67E|LIPI_uc021whj.1_Missense_Mutation_p.G232E|LIPI_uc021whe.1_Missense_Mutation_p.G232E|LIPI_uc021whf.1_Missense_Mutation_p.G232E NM_198996 NP_945347 Q6XZB0 LIPI_HUMAN Homo sapiens lipase, member I (LIPI), mRNA. 232 lipid catabolic process extracellular region|extracellular space|membrane|plasma membrane heparin binding|phospholipase activity p.G253E(4) endometrium(1)|kidney(13)|large_intestine(9)|liver(3)|lung(24)|ovary(3)|urinary_tract(1) 54 Epithelial(23;0.000155)|COAD - Colon adenocarcinoma(22;0.0015)|Colorectal(24;0.00693)|Lung(58;0.166) TTGTTTATTTCCTCCATTTGG 0.343000 57 27 0 0 0.0024448 0 0 ERG 2078 broad.mit.edu 37 21 39817365 39817365 + Silent SNP G A A TCGA-EE-A3AC-06A-11D-A196-08 TCGA-EE-A3AC-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 883d623b-c427-4444-9ee3-66d18648130f f8f00311-8db5-4187-bcb8-5054d9fbdac3 g.chr21:39817365G>A uc010gnw.3 - 3 514 c.219C>T c.(217-219)atC>atT p.I73I ERG_uc021wjd.1_Silent_p.I73I|ERG_uc002yxa.3_Silent_p.I66I|ERG_uc011aek.2_Intron|ERG_uc010gnv.3_Intron|ERG_uc010gnx.3_Silent_p.I73I|ERG_uc011ael.2_Silent_p.I73I|ERG_uc002yxb.3_Silent_p.I73I|ERG_uc011aem.1_Silent_p.I66I|ERG_uc002yxc.4_Silent_p.I73I NM_001243428 NP_001230357 P11308 ERG_HUMAN Homo sapiens v-ets erythroblastosis virus E26 oncogene homolog (avian) (ERG), transcript variant 5, mRNA. 73 cell proliferation|multicellular organismal development|protein phosphorylation cytoplasm|nucleus|ribonucleoprotein complex protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|signal transducer activity EWSR1/ERG(178)|NDRG1/ERG(5)|TMPRSS2/ERG(3582)|FUS/ERG(167)|SLC45A3/ERG(50) lung(2)|ovary(1)|skin(1) 4 Prostate(19;3.6e-06) ATTCCATTTTGATGGTGACCC 0.552000 T """EWSR1, TMPRSS2, ELF4, FUS, HERPUD1, NDRG1""" """Ewing sarcoma, prostate, AML""" 24 12 0 0 0.000566183 0 0 CLTCL1 8218 broad.mit.edu 37 22 19203733 19203733 + Missense_Mutation SNP G A A TCGA-EE-A3AC-06A-11D-A196-08 TCGA-EE-A3AC-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 883d623b-c427-4444-9ee3-66d18648130f f8f00311-8db5-4187-bcb8-5054d9fbdac3 g.chr22:19203733G>A uc021wle.1 - 18 3028 c.2953C>T c.(2953-2955)Cct>Tct p.P985S CLTCL1_uc021wld.1_Missense_Mutation_p.P985S|CLTCL1_uc021wlc.1_Missense_Mutation_p.P985S|CLTCL1_uc021wlf.1_Missense_Mutation_p.P985S|CLTCL1_uc011agw.1_Missense_Mutation_p.P985S|CLTCL1_uc002zpd.1_5'Flank|CLTCL1_uc002zpe.2_5'Flank NM_007098 NP_009029 P53675 CLH2_HUMAN Homo sapiens clathrin, heavy chain-like 1 (CLTCL1), transcript variant 1, mRNA. 985 Heavy chain arm.|Proximal segment. anatomical structure morphogenesis|intracellular protein transport|mitosis|positive regulation of glucose import|receptor-mediated endocytosis clathrin coat of coated pit|clathrin coat of trans-Golgi network vesicle|spindle|trans-Golgi network protein binding|signal transducer activity|structural molecule activity breast(2)|central_nervous_system(3)|cervix(2)|endometrium(9)|kidney(3)|large_intestine(11)|lung(9)|ovary(5)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 49 Colorectal(54;0.0993) ATCTCTTCAGGATCCCGTGTT 0.398000 T ? ALCL 35 25 0 0 0.00178596 0 0 IL17REL 400935 broad.mit.edu 37 22 50436709 50436709 + Missense_Mutation SNP T G G TCGA-EE-A3AC-06A-11D-A196-08 TCGA-EE-A3AC-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 883d623b-c427-4444-9ee3-66d18648130f f8f00311-8db5-4187-bcb8-5054d9fbdac3 g.chr22:50436709T>G uc003bje.1 - 9 863 c.631A>C c.(631-633)Acg>Ccg p.T211P NM_001001694 NP_001001694 Q6ZVW7 I17EL_HUMAN Homo sapiens interleukin 17 receptor E-like (IL17REL), mRNA. 211 endometrium(1)|large_intestine(1)|lung(3)|pancreas(1) 6 all_cancers(38;5.53e-07)|all_epithelial(38;3.84e-06)|all_lung(38;0.00208)|Breast(42;0.0104)|Lung NSC(38;0.0199)|Ovarian(80;0.0907)|Lung SC(80;0.236) BRCA - Breast invasive adenocarcinoma(115;0.2)|LUAD - Lung adenocarcinoma(64;0.247) TAGTAGACCGTGTCCCACAGC 0.682000 19 12 0 0 0.00136819 0 0 FAT4 79633 broad.mit.edu 37 4 126238442 126238442 + Silent SNP G A A TCGA-EE-A3AC-06A-11D-A196-08 TCGA-EE-A3AC-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 883d623b-c427-4444-9ee3-66d18648130f f8f00311-8db5-4187-bcb8-5054d9fbdac3 g.chr4:126238442G>A uc003ifj.4 + 0 876 c.876G>A c.(874-876)gaG>gaA p.E292E NM_024582 NP_078858 Q6V0I7 FAT4_HUMAN Homo sapiens FAT tumor suppressor homolog 4 (Drosophila) (FAT4), mRNA. 292 Cadherin 3. 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 TGCAGGACGAGGGGACCCCCT 0.667000 OREG0016317 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 19 18 0 0 0.000566183 0 0 SH3GL1 6455 broad.mit.edu 37 19 4363800 4363800 + Missense_Mutation SNP C T T TCGA-EE-A3AC-06A-11D-A196-08 TCGA-EE-A3AC-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 883d623b-c427-4444-9ee3-66d18648130f f8f00311-8db5-4187-bcb8-5054d9fbdac3 g.chr19:4363800C>T uc002maj.3 - 5 741 c.541G>A c.(541-543)Gag>Aag p.E181K SH3GL1_uc002mak.3_Missense_Mutation_p.E117K|SH3GL1_uc010xig.2_Missense_Mutation_p.E133K NM_003025 NP_003016 Q99961 SH3G1_HUMAN Homo sapiens SH3-domain GRB2-like 1 (SH3GL1), transcript variant 1, mRNA. 181 BAR. central nervous system development|endocytosis|signal transduction early endosome membrane lipid binding|protein binding NS(1)|endometrium(2)|kidney(16)|large_intestine(3)|lung(2)|ovary(2) 26 UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.0152)|STAD - Stomach adenocarcinoma(1328;0.182) CGTAGCTCCTCATCGGGGATC 0.602000 T MLL AL 41 31 0 0 0.0024448 0 0 GLDC 2731 broad.mit.edu 37 9 6534758 6534758 + Missense_Mutation SNP A G G TCGA-EE-A3AC-06A-11D-A196-08 TCGA-EE-A3AC-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 883d623b-c427-4444-9ee3-66d18648130f f8f00311-8db5-4187-bcb8-5054d9fbdac3 g.chr9:6534758A>G uc003zkc.3 - 23 3062 c.2869T>C c.(2869-2871)Tct>Cct p.S957P NM_000170 NP_000161 P23378 GCSP_HUMAN Homo sapiens glycine dehydrogenase (decarboxylating) (GLDC), nuclear gene encoding mitochondrial protein, mRNA. 957 glycine catabolic process mitochondrion electron carrier activity|glycine dehydrogenase (decarboxylating) activity|lyase activity|pyridoxal phosphate binding cervix(1)|endometrium(2)|large_intestine(5)|lung(23)|ovary(2)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 37 Acute lymphoblastic leukemia(23;0.161) GBM - Glioblastoma multiforme(50;0.0421)|Lung(218;0.134) Glycine(DB00145)|Pyridoxal Phosphate(DB00114) CAGTGGGAAGATGTAACGCAG 0.557000 22 12 0 0 0.000219431 0 0 ABCC3 8714 broad.mit.edu 37 17 48761431 48761431 + Missense_Mutation SNP T G G TCGA-EE-A3AC-06A-11D-A196-08 TCGA-EE-A3AC-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 883d623b-c427-4444-9ee3-66d18648130f f8f00311-8db5-4187-bcb8-5054d9fbdac3 g.chr17:48761431T>G uc002isl.3 + 27 4156 c.4076T>G c.(4075-4077)cTc>cGc p.L1359R ABCC3_uc002isn.3_Missense_Mutation_p.L113R NM_003786 NP_003777 O15438 MRP3_HUMAN Homo sapiens ATP-binding cassette, sub-family C (CFTR/MRP), member 3 (ABCC3), transcript variant 1, mRNA. 1359 ABC transporter 2. L -> F (in Ref. 11; AAB71756). bile acid metabolic process integral to plasma membrane|membrane fraction ATP binding|bile acid-exporting ATPase activity|organic anion transmembrane transporter activity breast(1)|central_nervous_system(2)|endometrium(2)|kidney(1)|large_intestine(6)|liver(1)|lung(11)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2) 33 BRCA - Breast invasive adenocarcinoma(22;3.05e-09) Glibenclamide(DB01016) GACATCGGCCTCCATGACCTG 0.617000 34 14 0 0 0.000422831 0 0 NLRP9 338321 broad.mit.edu 37 19 56244125 56244125 + Missense_Mutation SNP C T T TCGA-EE-A3AC-06A-11D-A196-08 TCGA-EE-A3AC-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 883d623b-c427-4444-9ee3-66d18648130f f8f00311-8db5-4187-bcb8-5054d9fbdac3 g.chr19:56244125C>T uc002qly.3 - 1 1100 c.1072G>A c.(1072-1074)Gaa>Aaa p.E358K NM_176820 NP_789790 Q7RTR0 NALP9_HUMAN Homo sapiens NLR family, pyrin domain containing 9 (NLRP9), mRNA. 358 NACHT. cytoplasm ATP binding NS(2)|breast(5)|cervix(1)|endometrium(7)|kidney(8)|large_intestine(15)|lung(21)|ovary(2)|prostate(3)|skin(7)|urinary_tract(3) 74 Colorectal(82;0.000133)|Ovarian(87;0.133) GBM - Glioblastoma multiforme(193;0.123) GAGTTTATTTCAAGGTCTTCT 0.438000 59 36 0 0 0.00148497 0 0 STK39 27347 broad.mit.edu 37 2 168931712 168931712 + Silent SNP G A A TCGA-EE-A3AC-06A-11D-A196-08 TCGA-EE-A3AC-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 883d623b-c427-4444-9ee3-66d18648130f f8f00311-8db5-4187-bcb8-5054d9fbdac3 g.chr2:168931712G>A uc002uea.3 - 10 1279 c.1119C>T c.(1117-1119)caC>caT p.H373H NM_013233 NP_037365 Q9UEW8 STK39_HUMAN Homo sapiens serine threonine kinase 39 (STK39), mRNA. 373 response to stress cytoplasm|nucleus ATP binding|protein binding|receptor signaling protein serine/threonine kinase activity central_nervous_system(1)|endometrium(2)|large_intestine(3)|lung(3)|prostate(2)|skin(2) 13 TTTTATGAAGGTGACCACTTG 0.463000 56 55 0 0 0.000781405 0 0 ST3GAL5 8869 broad.mit.edu 37 2 86075167 86075167 + Missense_Mutation SNP G A A TCGA-EE-A3AC-06A-11D-A196-08 TCGA-EE-A3AC-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 883d623b-c427-4444-9ee3-66d18648130f f8f00311-8db5-4187-bcb8-5054d9fbdac3 g.chr2:86075167G>A uc002sqq.1 - 3 608 c.479C>T c.(478-480)cCt>cTt p.P160L ST3GAL5_uc010fgq.1_Missense_Mutation_p.P32L|ST3GAL5_uc002sqp.1_Missense_Mutation_p.P137L NM_003896 NP_003887 Q9UNP4 SIAT9_HUMAN Homo sapiens ST3 beta-galactoside alpha-2,3-sialyltransferase 5 (ST3GAL5), transcript variant 1, mRNA. 160 ganglioside biosynthetic process|protein glycosylation integral to Golgi membrane|integral to plasma membrane lactosylceramide alpha-2,3-sialyltransferase activity|neolactotetraosylceramide alpha-2,3-sialyltransferase activity cervix(1)|endometrium(3)|kidney(1)|large_intestine(1)|lung(6)|skin(2)|upper_aerodigestive_tract(1) 15 CCCAAAAGGAGGATCGTACTT 0.512000 106 68 0 0 0.000781405 0 0 ZNF697 90874 broad.mit.edu 37 1 120166578 120166578 + Missense_Mutation SNP C T T TCGA-EE-A3AC-06A-11D-A196-08 TCGA-EE-A3AC-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 883d623b-c427-4444-9ee3-66d18648130f f8f00311-8db5-4187-bcb8-5054d9fbdac3 g.chr1:120166578C>T uc001ehy.1 - 2 502 c.388G>A c.(388-390)Gag>Aag p.E130K NM_001080470 NP_001073939 Q5TEC3 ZN697_HUMAN Homo sapiens zinc finger protein 697 (ZNF697), mRNA. 130 Poly-Glu. regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding ovary(2) 2 all_neural(166;0.219) all_lung(203;3.66e-05)|Lung NSC(69;0.000202)|all_epithelial(167;0.0266) Lung(183;0.011)|LUSC - Lung squamous cell carcinoma(189;0.0577) TCTTCCTCCTCCAGCCGGTTC 0.652000 5 9 0 0 0.000274275 0 0 RPS27 6232 broad.mit.edu 37 1 153963239 153963239 + Splice_Site SNP C T T TCGA-EE-A3AC-06A-11D-A196-08 TCGA-EE-A3AC-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 883d623b-c427-4444-9ee3-66d18648130f f8f00311-8db5-4187-bcb8-5054d9fbdac3 g.chr1:153963239C>T uc001fdv.3 + 1 1 c.-33_splice c.e1-1 NM_001030 NP_001021 P42677 RS27_HUMAN Homo sapiens ribosomal protein S27 (RPS27), mRNA. cell proliferation|endocrine pancreas development|mitotic prometaphase|translational elongation|translational termination|viral transcription cytosolic small ribosomal subunit|nucleus DNA binding|structural constituent of ribosome|zinc ion binding kidney(1) 1 all_lung(78;3.05e-32)|Lung NSC(65;3.74e-30)|Hepatocellular(266;0.0877)|Melanoma(130;0.199) LUSC - Lung squamous cell carcinoma(543;0.151) GCTTTCGCTCCTTTCCGGCGG 0.537000 54 14 0 0 0.000308642 0 0 C19orf21 126353 broad.mit.edu 37 19 757331 757331 + Missense_Mutation SNP G A A TCGA-EE-A3AC-06A-11D-A196-08 TCGA-EE-A3AC-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 883d623b-c427-4444-9ee3-66d18648130f f8f00311-8db5-4187-bcb8-5054d9fbdac3 g.chr19:757331G>A uc002lpo.3 + 1 468 c.385G>A c.(385-387)Ggg>Agg p.G129R NM_173481 NP_775752 Q8IVT2 CS021_HUMAN Homo sapiens chromosome 19 open reading frame 21 (C19orf21), mRNA. 129 breast(1)|endometrium(1)|kidney(2)|large_intestine(3)|lung(5)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 18 Acute lymphoblastic leukemia(61;4.36e-14)|all_hematologic(61;4.84e-09)|Lung NSC(49;0.000145)|all_lung(49;0.000236)|Breast(49;0.0014) 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) CCTGGATGCTGGGGACGCTGA 0.687000 10 14 0 0 0.000308642 0 0 PTTG2 10744 broad.mit.edu 37 4 37962083 37962083 + Missense_Mutation SNP G A A TCGA-EE-A3AC-06A-11D-A196-08 TCGA-EE-A3AC-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 883d623b-c427-4444-9ee3-66d18648130f f8f00311-8db5-4187-bcb8-5054d9fbdac3 g.chr4:37962083G>A uc011bye.2 + 0 28 c.28G>A c.(28-30)Gaa>Aaa p.E10K TBC1D1_uc003gtb.3_Intron|TBC1D1_uc011byd.2_Intron|TBC1D1_uc010ifd.3_Intron NM_006607 NP_006598 Q9NZH5 PTTG2_HUMAN Homo sapiens pituitary tumor-transforming 2 (PTTG2), mRNA. 10 DNA metabolic process|chromosome organization cytoplasm|nucleus SH3 domain binding breast(1)|endometrium(1)|lung(4)|skin(1) 7 CGTTGATAAGGAAATTGGAGA 0.438000 28 10 0 0 0.000673444 0 0 ACACB 32 broad.mit.edu 37 12 109660704 109660704 + Missense_Mutation SNP C T T TCGA-EE-A3AC-06A-11D-A196-08 TCGA-EE-A3AC-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 883d623b-c427-4444-9ee3-66d18648130f f8f00311-8db5-4187-bcb8-5054d9fbdac3 g.chr12:109660704C>T uc001tob.3 + 25 3898 c.3779C>T c.(3778-3780)cCc>cTc p.P1260L ACACB_uc001toc.3_Missense_Mutation_p.P1260L NM_001093 NP_001084 O00763 ACACB_HUMAN Homo sapiens acetyl-CoA carboxylase beta (ACACB), mRNA. 1260 acetyl-CoA metabolic process|carnitine shuttle|energy reserve metabolic process|fatty acid biosynthetic process|positive regulation of cellular metabolic process|protein homotetramerization|regulation of fatty acid oxidation Golgi apparatus|cytosol|endomembrane system|membrane ATP binding|acetyl-CoA carboxylase activity|biotin carboxylase activity|metal ion binding|protein binding NS(1)|breast(2)|endometrium(9)|kidney(5)|large_intestine(20)|lung(40)|ovary(6)|pancreas(1)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2) 95 Biotin(DB00121) CAGTTCTGCCCCGAGAACCTC 0.602000 13 5 0 0 0.000602214 0 0 ARHGAP27 201176 broad.mit.edu 37 17 43474304 43474304 + Silent SNP C T T TCGA-EE-A3AC-06A-11D-A196-08 TCGA-EE-A3AC-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 883d623b-c427-4444-9ee3-66d18648130f f8f00311-8db5-4187-bcb8-5054d9fbdac3 g.chr17:43474304C>T uc002iix.3 - 10 1355 c.906G>A c.(904-906)gaG>gaA p.E302E ARHGAP27_uc010dak.3_Silent_p.E275E NM_199282 NP_954976 Q6ZUM4 RHG27_HUMAN Homo sapiens Rho GTPase activating protein 27 (ARHGAP27), transcript variant 1, mRNA. 643 WW 2. positive regulation of Cdc42 GTPase activity|receptor-mediated endocytosis|signal transduction cytoplasm|membrane Rac GTPase activator activity|SH3 domain binding endometrium(4)|large_intestine(9)|lung(3)|skin(1) 17 Renal(3;0.0405) GCGCGTCCTCCTCTTTCTCCT 0.667000 36 53 0 0 0.000781405 0 0 TTLL9 164395 broad.mit.edu 37 20 30527068 30527068 + Splice_Site SNP C T T TCGA-EE-A3AC-06A-11D-A196-08 TCGA-EE-A3AC-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 883d623b-c427-4444-9ee3-66d18648130f f8f00311-8db5-4187-bcb8-5054d9fbdac3 g.chr20:30527068C>T uc010gdx.1 + 14 1496 c.1243_splice c.e14+1 p.G415_splice TTLL9_uc002wwy.1_Splice_Site|TTLL9_uc002wwz.1_Intron|TTLL9_uc002wxa.1_Splice_Site|TTLL9_uc002wxb.1_Splice_Site|TTLL9_uc010zto.1_Splice_Site|TTLL9_uc002wxc.2_Splice_Site_p.G317_splice|TTLL9_uc010ztp.1_Intron|TTLL9_uc010ztq.1_Splice_Site NM_001008409 NP_001008409 Q3SXZ7 TTLL9_HUMAN Homo sapiens tubulin tyrosine ligase-like family, member 9 (TTLL9), mRNA. 415 protein modification process cilium|microtubule|microtubule basal body ATP binding|tubulin-tyrosine ligase activity breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|lung(8)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1) 26 Colorectal(19;0.00306)|COAD - Colon adenocarcinoma(19;0.0347) ACACACATCTCGGTATGTAGG 0.552000 19 40 0 0 0.00148497 0 0 RACGAP1P 83956 broad.mit.edu 37 12 45458398 45458398 + RNA SNP C T T TCGA-EE-A3AC-06A-11D-A196-08 TCGA-EE-A3AC-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 883d623b-c427-4444-9ee3-66d18648130f f8f00311-8db5-4187-bcb8-5054d9fbdac3 g.chr12:45458398C>T uc001rol.3 - 0 c.797G>A Homo sapiens Rac GTPase activating protein 1 pseudogene (RACGAP1P), non-coding RNA. TACCTGTTTTCCTTTGGCTCC 0.522000 11 7 0 0 0.000157383 0 0 FRG1B 284802 broad.mit.edu 37 20 29625941 29625941 + Missense_Mutation SNP A T T TCGA-EE-A3AC-06A-11D-A196-08 TCGA-EE-A3AC-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 883d623b-c427-4444-9ee3-66d18648130f f8f00311-8db5-4187-bcb8-5054d9fbdac3 g.chr20:29625941A>T uc010ztl.1 + 1 127 c.95A>T c.(94-96)gAt>gTt p.D32V FRG1B_uc002wvm.1_Non-coding_Transcript|FRG1B_uc010ztj.1_Non-coding_Transcript|FRG1B_uc010gdr.1_Non-coding_Transcript|FRG1B_uc010ztk.1_Intron Homo sapiens FSHD region gene 1 family, member B (FRG1B), non-coding RNA. p.D62V(2)|p.A32T(1) endometrium(10)|kidney(21)|lung(3)|pancreas(1)|prostate(9)|urinary_tract(9) 53 GGGCATTCAGATGCAATTGGA 0.333000 76 6 0 0 0.00198382 0 0 LIMK1 3984 broad.mit.edu 37 7 73513455 73513455 + Silent SNP G A A TCGA-EE-A3AC-06A-11D-A196-08 TCGA-EE-A3AC-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 883d623b-c427-4444-9ee3-66d18648130f f8f00311-8db5-4187-bcb8-5054d9fbdac3 g.chr7:73513455G>A uc003uaa.2 + 4 709 c.495G>A c.(493-495)ctG>ctA p.L165L LIMK1_uc010lbl.2_Non-coding_Transcript|LIMK1_uc003uab.3_Silent_p.L131L|LIMK1_uc003uac.1_5'UTR NM_002314 NP_002305 P53667 LIMK1_HUMAN Homo sapiens LIM domain kinase 1 (LIMK1), transcript variant 1, mRNA. 165 PDZ. Rho protein signal transduction|actin cytoskeleton organization|axon guidance|negative regulation of ubiquitin-protein ligase activity|positive regulation of actin filament bundle assembly|positive regulation of axon extension cytosol|growth cone|nucleus ATP binding|heat shock protein binding|protein serine/threonine kinase activity|zinc ion binding breast(1)|central_nervous_system(2)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|ovary(1)|skin(1)|stomach(2)|upper_aerodigestive_tract(1) 21 Lung NSC(55;0.137) CCGTCACCCTGGTGTCCATCC 0.647000 60 41 0 0 0.000589545 0 0 RELN 5649 broad.mit.edu 37 7 103294589 103294589 + Missense_Mutation SNP C T T TCGA-EE-A3AC-06A-11D-A196-08 TCGA-EE-A3AC-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 883d623b-c427-4444-9ee3-66d18648130f f8f00311-8db5-4187-bcb8-5054d9fbdac3 g.chr7:103294589C>T uc022ajr.1 - 12 1665 c.1505G>A c.(1504-1506)gGa>gAa p.G502E RELN_uc022ajq.1_Missense_Mutation_p.G502E|RELN_uc010liz.3_Missense_Mutation_p.G502E NM_005045 NP_005036 P78509 RELN_HUMAN Homo sapiens reelin (RELN), transcript variant 1, mRNA. 502 axon guidance|cell adhesion|cerebral cortex tangential migration|glial cell differentiation|neuron migration|peptidyl-tyrosine phosphorylation|positive regulation of protein kinase activity|positive regulation of small GTPase mediated signal transduction|response to pain|spinal cord patterning cytoplasm|dendrite|extracellular space|proteinaceous extracellular matrix metal ion binding|protein serine/threonine/tyrosine kinase activity|serine-type peptidase activity NS(3)|breast(8)|central_nervous_system(3)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(4)|kidney(6)|large_intestine(43)|lung(101)|ovary(9)|pancreas(2)|prostate(4)|skin(14)|stomach(2)|upper_aerodigestive_tract(12)|urinary_tract(2) 227 COAD - Colon adenocarcinoma(1;8.98e-05)|Colorectal(1;0.00184) CTCTTTTCTTCCTTCAATTTT 0.398000 26 9 0 0 0.000978159 0 0 RPLP0P2 113157 broad.mit.edu 37 11 61405065 61405065 + Missense_Mutation SNP C G G TCGA-EE-A3AC-06A-11D-A196-08 TCGA-EE-A3AC-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 883d623b-c427-4444-9ee3-66d18648130f f8f00311-8db5-4187-bcb8-5054d9fbdac3 g.chr11:61405065C>G uc001nrz.1 + 4 1669 c.914C>G c.(913-915)tCg>tGg p.S305W Homo sapiens ribosomal protein, large, P0 pseudogene 2 (RPLP0P2), non-coding RNA. AAGGAAGAGTCGGAGGGAGGA 0.522000 39 19 0 0 0.00152264 0 0 SPDYE6 729597 broad.mit.edu 37 7 101989010 101989010 + Missense_Mutation SNP C A A TCGA-EE-A3AC-06A-11D-A196-08 TCGA-EE-A3AC-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 883d623b-c427-4444-9ee3-66d18648130f f8f00311-8db5-4187-bcb8-5054d9fbdac3 g.chr7:101989010C>A uc011kkp.2 - 5 1284 c.863G>T c.(862-864)tGg>tTg p.W288L DQ601342_uc022aje.1_5'Flank NM_001146210 NP_001139682 P0CI01 SPDE6_HUMAN Homo sapiens speedy homolog E6 (Xenopus laevis) (SPDYE6), mRNA. 288 Arg-rich. TAACTGGAACCAACGCTTACG 0.537000 824 18 0.000422831 0.00192616 0.000422831 1 0 FBXL7 23194 broad.mit.edu 37 5 15928140 15928140 + Missense_Mutation SNP C T T TCGA-EE-A3AC-06A-11D-A196-08 TCGA-EE-A3AC-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 883d623b-c427-4444-9ee3-66d18648130f f8f00311-8db5-4187-bcb8-5054d9fbdac3 g.chr5:15928140C>T uc003jfn.1 + 2 750 c.269C>T c.(268-270)tCc>tTc p.S90F NM_012304 NP_036436 Q9UJT9 FBXL7_HUMAN Homo sapiens F-box and leucine-rich repeat protein 7 (FBXL7), mRNA. 90 ubiquitin-dependent protein catabolic process ubiquitin ligase complex protein binding|ubiquitin-protein ligase activity cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(13)|lung(33)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2) 60 ATGGTGCACTCCCCGCCCCCG 0.657000 11 4 0 0 0.000602214 0 0 DOCK2 1794 broad.mit.edu 37 5 169508871 169508871 + Silent SNP C T T TCGA-EE-A3AC-06A-11D-A196-08 TCGA-EE-A3AC-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 883d623b-c427-4444-9ee3-66d18648130f f8f00311-8db5-4187-bcb8-5054d9fbdac3 g.chr5:169508871C>T uc003maf.3 + 50 5393 c.5313C>T c.(5311-5313)atC>atT p.I1771I DOCK2_uc011der.2_Non-coding_Transcript|DOCK2_uc010jjm.3_Silent_p.I1263I|DOCK2_uc003mah.3_Silent_p.I327I NM_004946 NP_004937 Q92608 DOCK2_HUMAN Homo sapiens dedicator of cytokinesis 2 (DOCK2), mRNA. 1771 actin cytoskeleton organization|regulation of defense response to virus by virus|viral reproduction cytoskeleton|cytosol|endomembrane system|membrane GTP binding|GTPase binding|Rac guanyl-nucleotide exchange factor activity|T cell receptor binding|electron carrier activity|heme binding NS(2)|breast(5)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(42)|liver(2)|lung(63)|ovary(5)|pancreas(3)|prostate(7)|skin(5)|stomach(2)|upper_aerodigestive_tract(3) 160 Renal(175;0.000159)|Lung NSC(126;0.0221)|all_lung(126;0.0337) Medulloblastoma(196;0.0399)|all_neural(177;0.0966) Kidney(164;7.53e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525) TGGCAGGCATCCCTGGGTTGG 0.602000 26 14 0 0 0.000308642 0 0 NPY5R 4889 broad.mit.edu 37 4 164272452 164272452 + Missense_Mutation SNP G A A TCGA-EE-A3AC-06A-11D-A196-08 TCGA-EE-A3AC-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 883d623b-c427-4444-9ee3-66d18648130f f8f00311-8db5-4187-bcb8-5054d9fbdac3 g.chr4:164272452G>A uc003iqn.3 + 3 1209 c.1027G>A c.(1027-1029)Gaa>Aaa p.E343K NPY5R_uc021xtw.1_Missense_Mutation_p.E343K NM_006174 NP_006165 Q15761 NPY5R_HUMAN Homo sapiens neuropeptide Y receptor Y5 (NPY5R), mRNA. 343 cardiac left ventricle morphogenesis|outflow tract morphogenesis integral to plasma membrane NS(2)|biliary_tract(1)|breast(1)|endometrium(3)|large_intestine(4)|lung(26)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1) 42 all_hematologic(180;0.166) Prostate(90;0.109) AAAACCTGAAGAAAATTCAGA 0.373000 26 19 0 0 0.00074312 0 0 SETD2 29072 broad.mit.edu 37 3 47163851 47163851 + Missense_Mutation SNP T C C TCGA-EE-A3AC-06A-11D-A196-08 TCGA-EE-A3AC-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 883d623b-c427-4444-9ee3-66d18648130f f8f00311-8db5-4187-bcb8-5054d9fbdac3 g.chr3:47163851T>C uc003cqv.3 - 2 2328 c.2242A>G c.(2242-2244)Aaa>Gaa p.K748E SETD2_uc003cqs.3_Missense_Mutation_p.K759E NM_014159 NP_054878 Q9BYW2 SETD2_HUMAN Homo sapiens SET domain containing 2 (SETD2), mRNA. 759 regulation of transcription, DNA-dependent|transcription, DNA-dependent chromosome|nucleus DNA binding|histone-lysine N-methyltransferase activity|oxidoreductase activity|transition metal ion binding breast(6)|central_nervous_system(5)|endometrium(4)|kidney(63)|large_intestine(18)|lung(26)|ovary(6)|prostate(2)|skin(3)|soft_tissue(1)|stomach(2)|urinary_tract(5) 141 Acute lymphoblastic leukemia(5;0.0169) BRCA - Breast invasive adenocarcinoma(193;0.000302)|KIRC - Kidney renal clear cell carcinoma(197;0.00732)|Kidney(197;0.00844) GACATGAGTTTATCTTGGTGT 0.403000 """N, F, S, Mis""" clear cell renal carcinoma 101 63 0 0 0.000781405 0 0 TMPPE 643853 broad.mit.edu 37 3 33135664 33135664 + Silent SNP G A A TCGA-EE-A3AC-06A-11D-A196-08 TCGA-EE-A3AC-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 883d623b-c427-4444-9ee3-66d18648130f f8f00311-8db5-4187-bcb8-5054d9fbdac3 g.chr3:33135664G>A uc003cfk.2 - 1 236 c.24C>T c.(22-24)tcC>tcT p.S8S GLB1_uc003cfh.1_Intron|GLB1_uc003cfi.1_Intron|GLB1_uc003cfj.1_Intron|GLB1_uc011axk.1_Intron|TMPPE_uc011axl.1_Intron|TMPPE_uc021wux.1_Silent_p.S8S NM_001039770 NP_001129710 Q6ZT21 TMPPE_HUMAN Homo sapiens transmembrane protein with metallophosphoesterase domain (TMPPE), transcript variant 1, mRNA. 8 integral to membrane metal ion binding breast(1)|large_intestine(5)|lung(6)|prostate(1) 13 TCGCGCCTAGGGACAGCTGCC 0.577000 54 29 0 0 0.00058488 0 0 VPS13B 157680 broad.mit.edu 37 8 100844872 100844872 + Silent SNP C T T TCGA-EE-A3AC-06A-11D-A196-08 TCGA-EE-A3AC-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 883d623b-c427-4444-9ee3-66d18648130f f8f00311-8db5-4187-bcb8-5054d9fbdac3 g.chr8:100844872C>T uc003yiv.3 + 51 9792 c.9681C>T c.(9679-9681)ttC>ttT p.F3227F VPS13B_uc003yiw.3_Silent_p.F3202F NM_017890 NP_060360 Q7Z7G8 VP13B_HUMAN Homo sapiens vacuolar protein sorting 13 homolog B (yeast) (VPS13B), transcript variant 5, mRNA. 3227 protein transport NS(1)|autonomic_ganglia(1)|breast(6)|central_nervous_system(4)|cervix(3)|endometrium(11)|haematopoietic_and_lymphoid_tissue(4)|kidney(10)|large_intestine(37)|lung(78)|ovary(8)|pancreas(3)|prostate(5)|skin(9)|upper_aerodigestive_tract(4)|urinary_tract(9) 193 Breast(36;3.73e-07) OV - Ovarian serous cystadenocarcinoma(57;0.00636) AAAATGGATTCTGTACCAGGT 0.463000 27 17 0 0 0.000958276 0 0 SETBP1 26040 broad.mit.edu 37 18 42532080 42532080 + Missense_Mutation SNP C A A TCGA-EE-A3AC-06A-11D-A196-08 TCGA-EE-A3AC-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 883d623b-c427-4444-9ee3-66d18648130f f8f00311-8db5-4187-bcb8-5054d9fbdac3 g.chr18:42532080C>A uc010dni.3 + 3 3071 c.2775C>A c.(2773-2775)gaC>gaA p.D925E NM_015559 NP_056374 Q9Y6X0 SETBP_HUMAN Homo sapiens SET binding protein 1 (SETBP1), transcript variant 1, mRNA. 925 nucleus DNA binding p.E925K(1) NS(1)|breast(2)|endometrium(9)|kidney(9)|large_intestine(20)|lung(47)|prostate(4)|skin(4)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(2) 104 Colorectal(1;0.0622)|COAD - Colon adenocarcinoma(74;0.201) TCATTGTGGACAACTTTCTGG 0.542000 Schinzel-Giedion syndrome 35 20 3.62473e-10 1.6655e-09 0.00188189 1 0 MYBPC1 4604 broad.mit.edu 37 12 102057335 102057335 + Missense_Mutation SNP G A A TCGA-EE-A3AC-06A-11D-A196-08 TCGA-EE-A3AC-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 883d623b-c427-4444-9ee3-66d18648130f f8f00311-8db5-4187-bcb8-5054d9fbdac3 g.chr12:102057335G>A uc001tii.3 + 19 2418 c.2278G>A c.(2278-2280)Gga>Aga p.G760R MYBPC1_uc001tig.3_Missense_Mutation_p.G785R|MYBPC1_uc010svr.2_Missense_Mutation_p.G760R|MYBPC1_uc010svs.2_Missense_Mutation_p.G760R|MYBPC1_uc001tij.3_Missense_Mutation_p.G760R|MYBPC1_uc010svt.2_Missense_Mutation_p.G748R|MYBPC1_uc010svu.2_Missense_Mutation_p.G741R|MYBPC1_uc001tik.3_Missense_Mutation_p.G734R|MYBPC1_uc001tih.3_Missense_Mutation_p.G785R|MYBPC1_uc010svq.2_Missense_Mutation_p.G747R|MYBPC1_uc001til.3_5'Flank NM_206820 NP_996556 Q00872 MYPC1_HUMAN Homo sapiens myosin binding protein C, slow type (MYBPC1), transcript variant 3, mRNA. 760 Fibronectin type-III 2. cell adhesion|muscle filament sliding cytosol|myofibril|myosin filament actin binding|structural constituent of muscle|titin binding p.T760T(1) breast(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(9)|liver(1)|lung(22)|ovary(4)|prostate(1)|skin(4)|urinary_tract(2) 57 TTGCTTTGAAGGAAGTAAGTA 0.463000 11 12 0 0 0.00136819 0 0 SYT3 84258 broad.mit.edu 37 19 51132596 51132596 + Silent SNP C T T TCGA-EE-A3AC-06A-11D-A196-08 TCGA-EE-A3AC-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 883d623b-c427-4444-9ee3-66d18648130f f8f00311-8db5-4187-bcb8-5054d9fbdac3 g.chr19:51132596C>T uc002pst.3 - 3 1870 c.1236G>A c.(1234-1236)caG>caA p.Q412Q SYT3_uc002psv.3_Silent_p.Q412Q|SYT3_uc010ycd.2_Silent_p.Q412Q NM_032298 NP_115674 Q9BQG1 SYT3_HUMAN Homo sapiens synaptotagmin III (SYT3), transcript variant 1, mRNA. 412 cell junction|endosome|integral to membrane|synaptic vesicle membrane metal ion binding|transporter activity breast(1)|endometrium(2)|kidney(2)|large_intestine(5)|lung(16)|ovary(2)|prostate(2)|skin(3)|urinary_tract(2) 35 all_neural(266;0.131) OV - Ovarian serous cystadenocarcinoma(262;0.00462)|GBM - Glioblastoma multiforme(134;0.0188) GGTCAGGGGGCTGCTCGGCCA 0.672000 13 4 0 0 0.00024832 0 0 NYNRIN 57523 broad.mit.edu 37 14 24883901 24883901 + Silent SNP C T T TCGA-EE-A3AC-06A-11D-A196-08 TCGA-EE-A3AC-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 883d623b-c427-4444-9ee3-66d18648130f f8f00311-8db5-4187-bcb8-5054d9fbdac3 g.chr14:24883901C>T uc001wpf.4 + 8 3264 c.2946C>T c.(2944-2946)ccC>ccT p.P982P NM_025081 NP_079357 Q9P2P1 NYNRI_HUMAN Homo sapiens NYN domain and retroviral integrase containing (NYNRIN), mRNA. 982 DNA integration integral to membrane DNA binding breast(3)|central_nervous_system(1)|endometrium(7)|kidney(6)|large_intestine(8)|lung(21)|ovary(2)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(1) 56 ACTCTGGGCCCCTGGAGAGTC 0.582000 10 5 0 0 0.000602214 0 0 HTR1A 3350 broad.mit.edu 37 5 63256578 63256578 + Silent SNP C T T TCGA-EE-A3AC-06A-11D-A196-08 TCGA-EE-A3AC-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 883d623b-c427-4444-9ee3-66d18648130f f8f00311-8db5-4187-bcb8-5054d9fbdac3 g.chr5:63256578C>T uc011cqt.2 - 0 969 c.969G>A c.(967-969)agG>agA p.R323R NM_000524 NP_000515 P08908 5HT1A_HUMAN Homo sapiens 5-hydroxytryptamine (serotonin) receptor 1A (HTR1A), mRNA. 323 behavior|positive regulation of cell proliferation integral to plasma membrane serotonin receptor activity cervix(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(11)|lung(29)|ovary(2)|pancreas(2)|prostate(2)|stomach(1)|upper_aerodigestive_tract(1) 56 Lung NSC(810;3.55e-06)|Prostate(74;0.0352)|Ovarian(174;0.0545)|Breast(144;0.0575)|Colorectal(97;0.234) Lung(70;0.105) Alprenolol(DB00866)|Aripiprazole(DB01238)|Buspirone(DB00490)|Clozapine(DB00363)|Eletriptan(DB00216)|Ergoloid mesylate(DB01049)|Fluvoxamine(DB00176)|Lisuride(DB00589)|Methysergide(DB00247)|Mirtazapine(DB00370)|Pindolol(DB00960)|Propranolol(DB00571)|Quetiapine(DB01224)|Sertraline(DB01104)|Tegaserod(DB01079)|Trazodone(DB00656)|Venlafaxine(DB00285)|Ziprasidone(DB00246) GCTCATTTTTCCTCTCGAAAG 0.607000 36 20 0 0 0.00152264 0 0 HSPA12B 116835 broad.mit.edu 37 20 3726646 3726646 + Missense_Mutation SNP G A A TCGA-EE-A3AC-06A-11D-A196-08 TCGA-EE-A3AC-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 883d623b-c427-4444-9ee3-66d18648130f f8f00311-8db5-4187-bcb8-5054d9fbdac3 g.chr20:3726646G>A uc002wjd.3 + 6 785 c.643G>A c.(643-645)Gcc>Acc p.A215T HSPA12B_uc010zqj.2_Missense_Mutation_p.A49T|HSPA12B_uc010zqi.2_Missense_Mutation_p.A214T|HSPA12B_uc002wje.3_Missense_Mutation_p.A128T NM_052970 NP_443202 Q96MM6 HS12B_HUMAN Homo sapiens heat shock 70kD protein 12B (HSPA12B), transcript variant 1, mRNA. 215 ATP binding p.A215S(2) NS(1)|breast(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(5)|ovary(1)|prostate(1)|skin(1) 14 GAAACAGCCAGCCAAGCAGTT 0.642000 28 20 0 0 0.000375601 0 0 ARID2 196528 broad.mit.edu 37 12 46298733 46298733 + Nonsense_Mutation SNP G T T TCGA-EE-A3AC-06A-11D-A196-08 TCGA-EE-A3AC-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 883d623b-c427-4444-9ee3-66d18648130f f8f00311-8db5-4187-bcb8-5054d9fbdac3 g.chr12:46298733G>T uc001ros.1 + 20 5380 c.5380G>T c.(5380-5382)Gaa>Taa p.E1794* ARID2_uc009zkg.1_Nonsense_Mutation_p.E1250*|ARID2_uc009zkh.1_Nonsense_Mutation_p.E1421*|ARID2_uc001rou.1_3'UTR NM_152641 NP_689854 Q68CP9 ARID2_HUMAN Homo sapiens AT rich interactive domain 2 (ARID, RFX-like) (ARID2), mRNA. 1794 chromatin modification|regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|protein binding|zinc ion binding NS(1)|autonomic_ganglia(1)|breast(7)|central_nervous_system(3)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(21)|liver(20)|lung(34)|ovary(7)|pancreas(1)|prostate(2)|skin(5)|stomach(1)|upper_aerodigestive_tract(2) 116 Lung SC(27;0.192)|Renal(347;0.236) Lung NSC(34;0.106)|all_lung(34;0.22) OV - Ovarian serous cystadenocarcinoma(5;0.00691) GBM - Glioblastoma multiforme(48;0.0153) AAAGAGACATGAAAATAACTT 0.348000 """N, S, F""" hepatocellular carcinoma 25 26 7.26314e-15 3.34451e-14 0.00127121 1 0 UBE2S 27338 broad.mit.edu 37 19 55913070 55913071 + Missense_Mutation DNP GG AT AT TCGA-EE-A3AC-06A-11D-A196-08 TCGA-EE-A3AC-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 883d623b-c427-4444-9ee3-66d18648130f f8f00311-8db5-4187-bcb8-5054d9fbdac3 g.chr19:55913070_55913071GG>AT uc002qkx.1 - 3 770_771 c.402_403CC>AT c.(400-405)ggccgc>ggATgc p.R135C NM_014501 NP_055316 Q16763 UBE2S_HUMAN Homo sapiens ubiquitin-conjugating enzyme E2S (UBE2S), mRNA. 135 activation of anaphase-promoting complex activity|anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|cell division|exit from mitosis|free ubiquitin chain polymerization|protein K11-linked ubiquitination|protein K27-linked ubiquitination|protein K29-linked ubiquitination|protein K6-linked ubiquitination|protein K63-linked ubiquitination anaphase-promoting complex ATP binding|ubiquitin-protein ligase activity lung(1) 1 Breast(117;0.155) LUSC - Lung squamous cell carcinoma(43;0.13)|BRCA - Breast invasive adenocarcinoma(297;0.209) GBM - Glioblastoma multiforme(193;0.11) AAGAGCAGGCGGCCCGCCTCCT 0.673000 28 14 0 0 6.4e-05 0 0 ZIC2 7546 broad.mit.edu 37 13 100637612 100637612 + Silent SNP C T T TCGA-EE-A3AC-06A-11D-A196-08 TCGA-EE-A3AC-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 883d623b-c427-4444-9ee3-66d18648130f f8f00311-8db5-4187-bcb8-5054d9fbdac3 g.chr13:100637612C>T uc001von.3 + 2 1568 c.1275C>T c.(1273-1275)tcC>tcT p.S425S NM_007129 NP_009060 O95409 ZIC2_HUMAN Homo sapiens Zic family member 2 (ZIC2), mRNA. 425 brain development|negative regulation of transcription, DNA-dependent|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of transcription, DNA-dependent|visual perception cytoplasm|nucleus chromatin DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding large_intestine(2)|liver(2)|lung(5)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 13 all_neural(89;0.0837)|Medulloblastoma(90;0.18)|Lung SC(71;0.184) CTGAATCCTCCCCGGCCGCCA 0.711000 21 7 0 0 0.000157383 0 0 PLCL1 5334 broad.mit.edu 37 2 198950623 198950623 + Silent SNP C T T TCGA-EE-A3AC-06A-11D-A196-08 TCGA-EE-A3AC-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 883d623b-c427-4444-9ee3-66d18648130f f8f00311-8db5-4187-bcb8-5054d9fbdac3 g.chr2:198950623C>T uc010fsp.3 + 1 2780 c.2382C>T c.(2380-2382)atC>atT p.I794I PLCL1_uc002uuv.4_Silent_p.I715I NM_006226 NP_006217 Q15111 PLCL1_HUMAN Homo sapiens phospholipase C-like 1 (PLCL1), mRNA. 794 C2. intracellular signal transduction|lipid metabolic process cytoplasm calcium ion binding|phosphatidylinositol phospholipase C activity|signal transducer activity p.V793F(1) autonomic_ganglia(1)|breast(1)|cervix(1)|endometrium(8)|kidney(1)|large_intestine(14)|lung(44)|ovary(1)|pancreas(2)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1) 80 Quinacrine(DB01103) TGGCCATGATCCGTTTTGTTG 0.403000 47 25 0 0 0.00178596 0 0 MXRA5 25878 broad.mit.edu 37 X 3228200 3228200 + Missense_Mutation SNP G A A TCGA-EE-A3AC-06A-11D-A196-08 TCGA-EE-A3AC-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 883d623b-c427-4444-9ee3-66d18648130f f8f00311-8db5-4187-bcb8-5054d9fbdac3 g.chrX:3228200G>A uc004crg.4 - 6 8201 c.8044C>T c.(8044-8046)Ccc>Tcc p.P2682S NM_015419 NP_056234 Q9NR99 MXRA5_HUMAN Homo sapiens matrix-remodelling associated 5 (MXRA5), mRNA. 2682 Ig-like C2-type 11. 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) AGGGTTTGGGGGCCCTCCAGA 0.607000 6 17 0 0 0.00152264 0 0 RHBG 57127 broad.mit.edu 37 1 156351984 156351984 + Silent SNP C T T TCGA-EE-A3AC-06A-11D-A196-08 TCGA-EE-A3AC-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 883d623b-c427-4444-9ee3-66d18648130f f8f00311-8db5-4187-bcb8-5054d9fbdac3 g.chr1:156351984C>T uc010pho.2 + 6 1142 c.1104C>T c.(1102-1104)taC>taT p.Y368Y RHBG_uc010phm.1_Missense_Mutation_p.T201M|RHBG_uc010phn.1_Non-coding_Transcript|RHBG_uc001fos.3_Silent_p.Y299Y|RHBG_uc009wrz.3_Silent_p.Y336Y|RHBG_uc001for.3_Silent_p.Y338Y NM_020407 NP_065140 Q9H310 RHBG_HUMAN Homo sapiens Rh family, B glycoprotein (gene/pseudogene) (RHBG), transcript variant 1, mRNA. 368 transepithelial ammonium transport anchored to plasma membrane|basolateral plasma membrane|cytoplasmic vesicle membrane|integral to plasma membrane|spectrin-associated cytoskeleton ammonia transmembrane transporter activity|ammonium transmembrane transporter activity|ankyrin binding endometrium(1)|kidney(1)|large_intestine(4)|lung(9)|ovary(3)|skin(2)|stomach(1)|urinary_tract(1) 22 Hepatocellular(266;0.158) ATGAAGCTTACGGAGATGGGT 0.547000 105 37 0 0 0.00222228 0 0 NUP210L 91181 broad.mit.edu 37 1 154076511 154076511 + Missense_Mutation SNP C T T TCGA-EE-A3AC-06A-11D-A196-08 TCGA-EE-A3AC-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 883d623b-c427-4444-9ee3-66d18648130f f8f00311-8db5-4187-bcb8-5054d9fbdac3 g.chr1:154076511C>T uc001fdw.3 - 12 1868 c.1796G>A c.(1795-1797)gGa>gAa p.G599E NUP210L_uc009woq.3_5'UTR|NUP210L_uc010peh.2_Missense_Mutation_p.G599E NM_207308 NP_997191 Q5VU65 P210L_HUMAN Homo sapiens nucleoporin 210kDa-like (NUP210L), transcript variant 1, mRNA. 599 integral to membrane NS(1)|breast(6)|central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(12)|lung(34)|ovary(4)|pancreas(1)|prostate(2)|skin(6)|urinary_tract(2) 80 all_lung(78;9.35e-31)|Lung NSC(65;1.33e-28)|Hepatocellular(266;0.0877)|Melanoma(130;0.128) LUSC - Lung squamous cell carcinoma(543;0.151)|Colorectal(543;0.198) AGTAAAGACTCCTTGTTTATC 0.353000 110 32 0 0 0.0024448 0 0 MED24 9862 broad.mit.edu 37 17 38183177 38183177 + Silent SNP G A A TCGA-EE-A3AC-06A-11D-A196-08 TCGA-EE-A3AC-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 883d623b-c427-4444-9ee3-66d18648130f f8f00311-8db5-4187-bcb8-5054d9fbdac3 g.chr17:38183177G>A uc002hts.3 - 15 1916 c.1716C>T c.(1714-1716)ttC>ttT p.F572F MED24_uc010wes.2_Silent_p.F407F|MED24_uc010wet.2_Intron|MED24_uc002htt.3_Silent_p.F547F|MED24_uc002htu.3_Silent_p.F534F|MED24_uc010cwn.3_Silent_p.F534F|MED24_uc010weu.2_Silent_p.F457F|MED24_uc010wev.1_Silent_p.F497F|MED24_uc010wew.1_Silent_p.F488F|MED24_uc010wex.1_Silent_p.F252F|SNORD124_uc010wey.2_5'Flank NM_014815 NP_055630 O75448 MED24_HUMAN Homo sapiens mediator complex subunit 24 (MED24), transcript variant 1, mRNA. 547 androgen receptor signaling pathway|positive regulation of transcription, DNA-dependent|transcription initiation from RNA polymerase II promoter mediator complex RNA polymerase II transcription cofactor activity|ligand-dependent nuclear receptor transcription coactivator activity|receptor activity|thyroid hormone receptor binding|vitamin D receptor binding autonomic_ganglia(1)|breast(2)|endometrium(9)|large_intestine(10)|lung(14)|ovary(1)|prostate(2)|skin(1)|urinary_tract(1) 41 Colorectal(19;0.000442) AGTCGGGGCGGAAGCAGGGGT 0.637000 OREG0024386 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 45 6 0 0 0.000157383 0 0 SYT1 6857 broad.mit.edu 37 12 79689912 79689912 + Missense_Mutation SNP C T T TCGA-EE-A3AC-06A-11D-A196-08 TCGA-EE-A3AC-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 883d623b-c427-4444-9ee3-66d18648130f f8f00311-8db5-4187-bcb8-5054d9fbdac3 g.chr12:79689912C>T uc001sys.3 + 7 1209 c.538C>T c.(538-540)Cct>Tct p.P180S SYT1_uc001syt.3_Missense_Mutation_p.P180S|SYT1_uc001syu.3_Missense_Mutation_p.P177S|SYT1_uc001syv.3_Missense_Mutation_p.P180S NM_001135805 NP_005630 P21579 SYT1_HUMAN Homo sapiens synaptotagmin I (SYT1), transcript variant 2, mRNA. 180 C2 1.|Phospholipid binding (Probable). detection of calcium ion|glutamate secretion|neurotransmitter secretion|protein homooligomerization cell junction|chromaffin granule membrane|clathrin sculpted acetylcholine transport vesicle membrane|clathrin sculpted gamma-aminobutyric acid transport vesicle membrane|clathrin sculpted glutamate transport vesicle membrane|clathrin sculpted monoamine transport vesicle membrane|endocytic vesicle membrane|integral to membrane|synaptic vesicle membrane 1-phosphatidylinositol binding|low-density lipoprotein particle receptor binding|metal ion binding|syntaxin-1 binding|transporter activity p.P180S(2)|p.P180L(1) NS(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(11)|ovary(1)|pancreas(2)|skin(6) 25 CACATCTGATCCTTACGTGAA 0.423000 34 22 0 0 0.000375601 0 0 CAMK4 814 broad.mit.edu 37 5 110782473 110782473 + Splice_Site SNP C T T TCGA-EE-A3AC-06A-11D-A196-08 TCGA-EE-A3AC-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 883d623b-c427-4444-9ee3-66d18648130f f8f00311-8db5-4187-bcb8-5054d9fbdac3 g.chr5:110782473C>T uc003kpf.3 + 6 785 c.550_splice c.e6+1 p.A184_splice CAMK4_uc010jbv.3_Splice_Site NM_001744 NP_001735 Q16566 KCC4_HUMAN Homo sapiens calcium/calmodulin-dependent protein kinase IV (CAMK4), mRNA. 184 Protein kinase. activation of phospholipase C activity|nerve growth factor receptor signaling pathway|synaptic transmission cytosol|nucleoplasm ATP binding|calmodulin binding|calmodulin-dependent protein kinase activity endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(13)|ovary(3)|prostate(2)|skin(1)|urinary_tract(1) 30 all_cancers(142;1.49e-05)|all_epithelial(76;1.82e-07)|Prostate(80;0.00964)|all_lung(232;0.0181)|Lung NSC(167;0.0298)|Ovarian(225;0.0446)|Colorectal(57;0.0478)|Breast(839;0.244) OV - Ovarian serous cystadenocarcinoma(64;3.79e-08)|Epithelial(69;5.29e-08)|all cancers(49;1.1e-05)|COAD - Colon adenocarcinoma(37;0.109) CACTCAAAATCGGTGAGAACA 0.383000 34 22 0 0 0.00047179 0 0 DSP 1832 broad.mit.edu 37 6 7585335 7585335 + Missense_Mutation SNP G A A TCGA-EE-A3AC-06A-11D-A196-08 TCGA-EE-A3AC-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 883d623b-c427-4444-9ee3-66d18648130f f8f00311-8db5-4187-bcb8-5054d9fbdac3 g.chr6:7585335G>A uc003mxp.1 + 23 8119 c.7840G>A c.(7840-7842)Gaa>Aaa p.E2614K DSP_uc003mxq.1_Missense_Mutation_p.E2015K|DSP_uc021yle.1_Missense_Mutation_p.E2171K NM_004415 NP_004406 P15924 DESP_HUMAN Homo sapiens desmoplakin (DSP), transcript variant 1, mRNA. 2614 Globular 2. cellular component disassembly involved in apoptosis|keratinocyte differentiation|peptide cross-linking cornified envelope|cytoplasm|desmosome protein binding, bridging|structural constituent of cytoskeleton biliary_tract(1)|breast(6)|central_nervous_system(7)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(16)|liver(2)|lung(27)|ovary(4)|prostate(1)|skin(8)|stomach(3)|upper_aerodigestive_tract(7)|urinary_tract(5) 101 Ovarian(93;0.0584) all_hematologic(90;0.236) OV - Ovarian serous cystadenocarcinoma(45;0.000508) AGACACCCTGGAAGAATCGAG 0.463000 50 26 0 0 0.00178596 0 0 NRXN3 9369 broad.mit.edu 37 14 79432483 79432483 + Silent SNP C T T TCGA-EE-A3AC-06A-11D-A196-08 TCGA-EE-A3AC-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 883d623b-c427-4444-9ee3-66d18648130f f8f00311-8db5-4187-bcb8-5054d9fbdac3 g.chr14:79432483C>T uc001xun.3 + 8 1883 c.1392C>T c.(1390-1392)agC>agT p.S464S NRXN3_uc001xum.1_Non-coding_Transcript|NRXN3_uc010asv.1_Silent_p.S589S NM_004796 NP_004787 Q9HDB5 NRX3B_HUMAN Homo sapiens neurexin 3 (NRXN3), transcript variant 1, mRNA. 0 angiogenesis|cell adhesion integral to membrane NS(1)|breast(4)|central_nervous_system(1)|endometrium(6)|kidney(2)|large_intestine(23)|lung(40)|ovary(3)|pancreas(2)|prostate(5)|skin(7)|upper_aerodigestive_tract(9)|urinary_tract(1) 104 Renal(4;0.00876) BRCA - Breast invasive adenocarcinoma(234;0.00544)|Kidney(3;0.029)|KIRC - Kidney renal clear cell carcinoma(182;0.223) ATCTGCAGAGCCTCATGTTTA 0.458000 23 15 0 0 0.00074312 0 0 TPRG1 285386 broad.mit.edu 37 3 188925302 188925302 + Silent SNP G A A TCGA-EE-A3AC-06A-11D-A196-08 TCGA-EE-A3AC-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 883d623b-c427-4444-9ee3-66d18648130f f8f00311-8db5-4187-bcb8-5054d9fbdac3 g.chr3:188925302G>A uc003frv.2 + 6 1356 c.129G>A c.(127-129)agG>agA p.R43R TPRG1_uc003frw.2_Silent_p.R43R NM_198485 NP_940887 Q6ZUI0 TPRG1_HUMAN Homo sapiens tumor protein p63 regulated 1 (TPRG1), mRNA. 43 p.R43S(4) endometrium(2)|kidney(1)|large_intestine(2)|lung(8)|skin(2)|urinary_tract(1) 16 all_cancers(143;6.12e-12)|all_hematologic(3;0.0359)|Ovarian(172;0.0925) all_lung(153;8.23e-09)|Lung NSC(153;3.55e-06)|all_neural(597;0.0019)|Myeloproliferative disorder(1037;0.0255) Lung(62;6.93e-06) GBM - Glioblastoma multiforme(93;4.77e-14) AGATTTCAAGGCAGTCAAGTG 0.473000 39 20 0 0 0.00229938 0 0 A1CF 29974 broad.mit.edu 37 10 52603882 52603882 + Splice_Site SNP C T T TCGA-EE-A3AC-06A-11D-A196-08 TCGA-EE-A3AC-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 883d623b-c427-4444-9ee3-66d18648130f f8f00311-8db5-4187-bcb8-5054d9fbdac3 g.chr10:52603882C>T uc001jjj.3 - 4 288 c.100_splice c.e4-1 p.E34_splice A1CF_uc010qho.2_Splice_Site_p.E42_splice|A1CF_uc010qhn.2_Splice_Site_p.E42_splice|A1CF_uc009xov.3_Splice_Site_p.E34_splice|A1CF_uc001jji.3_Splice_Site_p.E34_splice|A1CF_uc001jjh.3_Splice_Site_p.E42_splice|A1CF_uc001jjk.1_Splice_Site_p.E34_splice NM_138932 NP_620310 Q9NQ94 A1CF_HUMAN Homo sapiens APOBEC1 complementation factor (A1CF), transcript variant 2, mRNA. 34 cytidine to uridine editing|mRNA modification|mRNA processing|protein stabilization apolipoprotein B mRNA editing enzyme complex|endoplasmic reticulum|nucleoplasm nucleotide binding|protein binding|single-stranded RNA binding p.E42K(2)|p.E34K(2) NS(1)|breast(1)|central_nervous_system(1)|kidney(3)|large_intestine(4)|lung(14)|prostate(2)|skin(3) 29 TGTCCATTTTCCTGCAAATCC 0.413000 29 18 0 0 0.000375601 0 0 INF2 64423 broad.mit.edu 37 14 105178850 105178850 + Missense_Mutation SNP C T T TCGA-EE-A3AC-06A-11D-A196-08 TCGA-EE-A3AC-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 883d623b-c427-4444-9ee3-66d18648130f f8f00311-8db5-4187-bcb8-5054d9fbdac3 g.chr14:105178850C>T uc001ypb.2 + 16 2713 c.2570C>T c.(2569-2571)tCc>tTc p.S857F INF2_uc001ypc.2_Missense_Mutation_p.S857F|INF2_uc010awz.1_Non-coding_Transcript NM_022489 NP_071934 Q27J81 INF2_HUMAN Homo sapiens inverted formin, FH2 and WH2 domain containing (INF2), transcript variant 1, mRNA. 857 FH2. actin cytoskeleton organization endoplasmic reticulum|nucleus|perinuclear region of cytoplasm Rho GTPase binding|actin binding large_intestine(3)|lung(3)|upper_aerodigestive_tract(1)|urinary_tract(1) 8 all_cancers(154;0.0896)|Melanoma(154;0.155)|all_epithelial(191;0.172) all cancers(16;0.00188)|OV - Ovarian serous cystadenocarcinoma(23;0.0191)|Epithelial(46;0.047)|GBM - Glioblastoma multiforme(11;0.116) Epithelial(152;0.176) GTGTCTGCCTCCGTGGCCGAG 0.647000 27 17 0 0 0.00074312 0 0 FTH1 2495 broad.mit.edu 37 11 61732864 61732864 + Nonsense_Mutation SNP G A A TCGA-EE-A3AC-06A-11D-A196-08 TCGA-EE-A3AC-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 883d623b-c427-4444-9ee3-66d18648130f f8f00311-8db5-4187-bcb8-5054d9fbdac3 g.chr11:61732864G>A uc001nsu.3 - 1 473 c.238C>T c.(238-240)Cga>Tga p.R80* NM_002032 NP_002023 P02794 FRIH_HUMAN Homo sapiens ferritin, heavy polypeptide 1 (FTH1), mRNA. 80 Ferritin-like diiron. cell proliferation|cellular membrane organization|immune response|intracellular sequestering of iron ion|iron ion transport|negative regulation of cell proliferation|post-Golgi vesicle-mediated transport cytosol|intracellular ferritin complex ferric iron binding|ferroxidase activity|protein binding NS(2)|lung(3)|ovary(1)|skin(1)|upper_aerodigestive_tract(1) 8 Iron Dextran(DB00893) AGGAAGATTCGGCCACCTCGT 0.438000 145 118 0 0 0.000781405 0 0 PSG2 5670 broad.mit.edu 37 19 43585352 43585352 + Silent SNP C T T TCGA-EE-A3AC-06A-11D-A196-08 TCGA-EE-A3AC-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 883d623b-c427-4444-9ee3-66d18648130f f8f00311-8db5-4187-bcb8-5054d9fbdac3 g.chr19:43585352C>T uc002ovr.3 - 1 283 c.111G>A c.(109-111)acG>acA p.T37T PSG4_uc010xwk.1_Intron NM_031246 NP_112536 P11465 PSG2_HUMAN Homo sapiens pregnancy specific beta-1-glycoprotein 2 (PSG2), mRNA. 37 Ig-like V-type. cell migration|female pregnancy extracellular region central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(5)|lung(24)|ovary(1)|pancreas(2)|prostate(6)|stomach(2)|urinary_tract(2) 49 Prostate(69;0.00682) GGGCTTCAATCGTGACTTGGG 0.478000 115 38 0 0 0.00222228 0 0 LCA5 167691 broad.mit.edu 37 6 80223146 80223146 + Missense_Mutation SNP A T T TCGA-EE-A3AC-06A-11D-A196-08 TCGA-EE-A3AC-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 883d623b-c427-4444-9ee3-66d18648130f f8f00311-8db5-4187-bcb8-5054d9fbdac3 g.chr6:80223146A>T uc003piy.3 - 3 1115 c.503T>A c.(502-504)aTt>aAt p.I168N LCA5_uc003pix.3_Missense_Mutation_p.I168N|LCA5_uc011dyr.2_Missense_Mutation_p.I168N NM_181714 NP_859065 Q86VQ0 LCA5_HUMAN Homo sapiens Leber congenital amaurosis 5 (LCA5), transcript variant 1, mRNA. 168 protein transport cilium axoneme|microtubule basal body protein binding haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(11)|lung(15)|prostate(2)|skin(1) 32 all_cancers(76;3.32e-05)|Acute lymphoblastic leukemia(125;1.1e-05)|all_hematologic(105;0.00117)|all_epithelial(107;0.0176) BRCA - Breast invasive adenocarcinoma(397;0.0657) GAGTGCTGTAATCTCATTGTT 0.353000 13 37 0 0 0.00111076 0 0 NALCN 259232 broad.mit.edu 37 13 101733962 101733962 + Silent SNP G A A TCGA-EE-A3AC-06A-11D-A196-08 TCGA-EE-A3AC-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 883d623b-c427-4444-9ee3-66d18648130f f8f00311-8db5-4187-bcb8-5054d9fbdac3 g.chr13:101733962G>A uc001vox.1 - 33 3990 c.3801C>T c.(3799-3801)ggC>ggT p.G1267G NM_052867 NP_443099 Q8IZF0 NALCN_HUMAN Homo sapiens sodium leak channel, non-selective (NALCN), mRNA. 1267 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) TTTGCCAGAAGCCAGCAGGCG 0.433000 26 17 0 0 0.000958276 0 0 KIAA0195 9772 broad.mit.edu 37 17 73493269 73493269 + Missense_Mutation SNP C T T TCGA-EE-A3AC-06A-11D-A196-08 TCGA-EE-A3AC-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 883d623b-c427-4444-9ee3-66d18648130f f8f00311-8db5-4187-bcb8-5054d9fbdac3 g.chr17:73493269C>T uc010wsa.2 + 24 3619 c.3427C>T c.(3427-3429)Cct>Tct p.P1143S KIAA0195_uc002jnz.4_Missense_Mutation_p.P1133S|KIAA0195_uc010wsb.2_Missense_Mutation_p.P773S|KIAA0195_uc002job.4_Missense_Mutation_p.P141S NM_014738 NP_055553 Q12767 K0195_HUMAN Homo sapiens KIAA0195 (KIAA0195), mRNA. 1133 ATP biosynthetic process|cation transport integral to membrane ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism breast(2)|endometrium(5)|kidney(2)|large_intestine(7)|lung(17)|ovary(5)|skin(2)|stomach(1)|urinary_tract(1) 42 all_cancers(13;3.15e-09)|all_epithelial(9;5.94e-10)|Breast(9;1.85e-09)|all_lung(278;0.246) all cancers(21;5.01e-07)|Epithelial(20;5e-06)|Lung(188;0.0809)|LUSC - Lung squamous cell carcinoma(166;0.154) CTTTTGCTACCCTCTGCTCAG 0.572000 43 41 0 0 0.000781405 0 0 C17orf47 284083 broad.mit.edu 37 17 56620267 56620267 + Nonsense_Mutation SNP C T T TCGA-EE-A3AC-06A-11D-A196-08 TCGA-EE-A3AC-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 883d623b-c427-4444-9ee3-66d18648130f f8f00311-8db5-4187-bcb8-5054d9fbdac3 g.chr17:56620267C>T uc002iwq.2 - 0 1467 c.1281G>A c.(1279-1281)tgG>tgA p.W427* SEPT4_uc010wny.2_5'Flank|SEPT4_uc010wnx.2_5'Flank NM_001038704 NP_001033793 Q8NEP4 CQ047_HUMAN Homo sapiens chromosome 17 open reading frame 47 (C17orf47), mRNA. 427 NS(1)|breast(2)|endometrium(1)|kidney(4)|large_intestine(4)|lung(9)|prostate(1)|skin(1)|urinary_tract(1) 24 Medulloblastoma(34;0.127)|all_neural(34;0.237) GCAAGGGCCACCATGAGGAGT 0.532000 65 96 0 0 0.000781405 0 0 OR8B2 26595 broad.mit.edu 37 11 124252431 124252431 + Missense_Mutation SNP C T T TCGA-EE-A3AC-06A-11D-A196-08 TCGA-EE-A3AC-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 883d623b-c427-4444-9ee3-66d18648130f f8f00311-8db5-4187-bcb8-5054d9fbdac3 g.chr11:124252431C>T uc010sai.2 - 0 809 c.809G>A c.(808-810)gGa>gAa p.G270E NM_001005468 NP_001005468 Q96RD0 OR8B2_HUMAN Homo sapiens olfactory receptor, family 8, subfamily B, member 2 (OR8B2), mRNA. 270 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(13)|ovary(1) 23 Breast(109;0.0115)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|all_neural(223;0.224) BRCA - Breast invasive adenocarcinoma(274;1.49e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0277) AGAAACTTTTCCCTGCTCCAT 0.423000 18 6 0 0 0.000673444 0 0 KIF19 124602 broad.mit.edu 37 17 72350551 72350551 + Silent SNP C T T TCGA-EE-A3AC-06A-11D-A196-08 TCGA-EE-A3AC-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 883d623b-c427-4444-9ee3-66d18648130f f8f00311-8db5-4187-bcb8-5054d9fbdac3 g.chr17:72350551C>T uc002jkm.4 + 17 2697 c.2559C>T c.(2557-2559)gcC>gcT p.A853A NM_153209 NP_694941 Q2TAC6 KIF19_HUMAN Homo sapiens kinesin family member 19 (KIF19), mRNA. 853 microtubule-based movement cytoplasm|microtubule ATP binding|microtubule motor activity autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|endometrium(4)|kidney(6)|large_intestine(3)|lung(16)|ovary(1)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(2) 41 CGGGCGAGGCCCCGTCCCGGG 0.682000 14 14 0 0 0.000308642 0 0 FAM83H 286077 broad.mit.edu 37 8 144810762 144810762 + Missense_Mutation SNP G A A TCGA-EE-A3AC-06A-11D-A196-08 TCGA-EE-A3AC-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 883d623b-c427-4444-9ee3-66d18648130f f8f00311-8db5-4187-bcb8-5054d9fbdac3 g.chr8:144810762G>A uc003yzk.3 - 4 938 c.869C>T c.(868-870)gCc>gTc p.A290V NM_198488 NP_940890 Q6ZRV2 FA83H_HUMAN Homo sapiens family with sequence similarity 83, member H (FAM83H), mRNA. 290 biomineral tissue development central_nervous_system(2)|endometrium(1)|large_intestine(1)|lung(12)|pancreas(1)|prostate(3)|urinary_tract(1) 21 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) GCGGGCCAGGGCCGCGGCCGA 0.706000 5 5 0 0 0.00116845 0 0 SLC39A12 221074 broad.mit.edu 37 10 18280159 18280159 + Missense_Mutation SNP G A A TCGA-EE-A3AC-06A-11D-A196-08 TCGA-EE-A3AC-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 883d623b-c427-4444-9ee3-66d18648130f f8f00311-8db5-4187-bcb8-5054d9fbdac3 g.chr10:18280159G>A uc001ipo.2 + 7 1622 c.1349G>A c.(1348-1350)gGa>gAa p.G450E SLC39A12_uc001ipn.2_Missense_Mutation_p.G450E|SLC39A12_uc001ipp.2_Missense_Mutation_p.G450E|SLC39A12_uc010qck.1_Missense_Mutation_p.G316E NM_001145195 NP_001138667 Q504Y0 S39AC_HUMAN Homo sapiens solute carrier family 39 (zinc transporter), member 12 (SLC39A12), transcript variant 1, mRNA. 450 zinc ion transport integral to membrane metal ion transmembrane transporter activity NS(1)|breast(4)|central_nervous_system(1)|cervix(1)|kidney(3)|large_intestine(5)|lung(38)|ovary(3)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 60 AAACTGATGGGATTAATTGGA 0.333000 59 44 0 0 0.00222228 0 0 TEKT5 146279 broad.mit.edu 37 16 10788374 10788375 + Missense_Mutation DNP GG AA AA TCGA-EE-A3AC-06A-11D-A196-08 TCGA-EE-A3AC-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 883d623b-c427-4444-9ee3-66d18648130f f8f00311-8db5-4187-bcb8-5054d9fbdac3 g.chr16:10788374_10788375GG>AA uc002czz.1 - 0 428_429 c.356_357CC>TT c.(355-357)tcc>tTT p.S119F NM_144674 NP_653275 Q96M29 TEKT5_HUMAN Homo sapiens tektin 5 (TEKT5), mRNA. 119 microtubule cytoskeleton organization cilium axoneme|flagellar axoneme|microtubule breast(2)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(9)|lung(9)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(4) 34 AGAGCCTCATGGAGTCATCCGT 0.649000 63 36 0 0 6.4e-05 0 0 CRISP2 7180 broad.mit.edu 37 6 49667538 49667538 + Missense_Mutation SNP C T T TCGA-EE-A3AC-06A-11D-A196-08 TCGA-EE-A3AC-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 883d623b-c427-4444-9ee3-66d18648130f f8f00311-8db5-4187-bcb8-5054d9fbdac3 g.chr6:49667538C>T uc003ozn.2 - 5 486 c.250G>A c.(250-252)Gat>Aat p.D84N CRISP2_uc003ozr.2_Missense_Mutation_p.D84N|CRISP2_uc003ozo.2_Missense_Mutation_p.D84N|CRISP2_uc003ozm.2_Missense_Mutation_p.D84N|CRISP2_uc003ozp.2_Missense_Mutation_p.D84N|CRISP2_uc003ozq.2_Missense_Mutation_p.D84N|CRISP2_uc003ozl.2_Missense_Mutation_p.D84N NM_001142417 NP_003287 P16562 CRIS2_HUMAN Homo sapiens cysteine-rich secretory protein 2 (CRISP2), transcript variant 4, mRNA. 84 extracellular space kidney(1)|large_intestine(2)|lung(10)|prostate(2)|skin(3)|upper_aerodigestive_tract(1) 19 Lung NSC(77;0.0161) KIRC - Kidney renal clear cell carcinoma(2;0.106)|Kidney(12;0.156) tcctctgGATCACTATGTTGT 0.333000 21 10 0 0 0.000442599 0 0 THSD4 79875 broad.mit.edu 37 15 72030236 72030236 + Missense_Mutation SNP C T T TCGA-EE-A3AC-06A-11D-A196-08 TCGA-EE-A3AC-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 883d623b-c427-4444-9ee3-66d18648130f f8f00311-8db5-4187-bcb8-5054d9fbdac3 g.chr15:72030236C>T uc002atb.1 + 9 1875 c.1796C>T c.(1795-1797)cCc>cTc p.P599L THSD4_uc010ukg.1_Missense_Mutation_p.P239L|THSD4_uc002ate.2_Missense_Mutation_p.P239L NM_024817 NP_079093 Q6ZMP0 THSD4_HUMAN Homo sapiens thrombospondin, type I, domain containing 4 (THSD4), mRNA. 599 proteinaceous extracellular matrix metalloendopeptidase activity breast(1)|central_nervous_system(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(20)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 42 AGATTTTCTCCCCATCGACCG 0.592000 44 24 0 0 0.000586117 0 0 IQCF2 389123 broad.mit.edu 37 3 51897327 51897327 + Missense_Mutation SNP G A A TCGA-EE-A3AC-06A-11D-A196-08 TCGA-EE-A3AC-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 883d623b-c427-4444-9ee3-66d18648130f f8f00311-8db5-4187-bcb8-5054d9fbdac3 g.chr3:51897327G>A uc003dbt.1 + 2 474 c.436G>A c.(436-438)Ggc>Agc p.G146S IQCF1_uc003dbq.4_Intron|IQCF2_uc003dbu.1_Non-coding_Transcript NM_203424 NP_982248 Q8IXL9 IQCF2_HUMAN Homo sapiens IQ motif containing F2 (IQCF2), mRNA. 146 endometrium(1)|kidney(2)|large_intestine(2)|lung(3)|prostate(1)|upper_aerodigestive_tract(1) 10 BRCA - Breast invasive adenocarcinoma(193;8.01e-05)|Kidney(197;0.000537)|KIRC - Kidney renal clear cell carcinoma(197;0.000716) TCTCCTCCAGGGCCACTGTGT 0.562000 68 37 0 0 0.00111076 0 0 APOB 338 broad.mit.edu 37 2 21233995 21233995 + Silent SNP C T T TCGA-EE-A3AC-06A-11D-A196-08 TCGA-EE-A3AC-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 883d623b-c427-4444-9ee3-66d18648130f f8f00311-8db5-4187-bcb8-5054d9fbdac3 g.chr2:21233995C>T uc002red.3 - 25 5873 c.5745G>A c.(5743-5745)ggG>ggA p.G1915G NM_000384 NP_000375 P04114 APOB_HUMAN Homo sapiens apolipoprotein B (including Ag(x) antigen) (APOB), mRNA. 1915 cholesterol homeostasis|cholesterol metabolic process|leukocyte migration|low-density lipoprotein particle clearance|low-density lipoprotein particle remodeling|platelet activation|positive regulation of cholesterol storage|positive regulation of macrophage derived foam cell differentiation|receptor-mediated endocytosis|response to virus chylomicron remnant|clathrin-coated endocytic vesicle membrane|endoplasmic reticulum lumen|endoplasmic reticulum membrane|endosome lumen|endosome membrane|intermediate-density lipoprotein particle|low-density lipoprotein particle|mature chylomicron|microsome|plasma membrane|very-low-density lipoprotein particle cholesterol transporter activity|enzyme binding|heparin binding|low-density lipoprotein particle receptor binding|phospholipid binding|protein heterodimerization activity p.G1915E(1) NS(5)|autonomic_ganglia(1)|breast(6)|central_nervous_system(4)|cervix(3)|endometrium(19)|kidney(10)|large_intestine(63)|liver(5)|lung(125)|ovary(16)|pancreas(1)|prostate(5)|skin(31)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(6) 305 Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215) Atorvastatin(DB01076) GAGCGAGTTTCCCATTGCCAT 0.443000 192 108 0 0 0.000781405 0 0 PDZD8 118987 broad.mit.edu 37 10 119044446 119044446 + Missense_Mutation SNP G A A TCGA-EE-A3AC-06A-11D-A196-08 TCGA-EE-A3AC-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 883d623b-c427-4444-9ee3-66d18648130f f8f00311-8db5-4187-bcb8-5054d9fbdac3 g.chr10:119044446G>A uc001lde.1 - 4 1997 c.1798C>T c.(1798-1800)Cct>Tct p.P600S NM_173791 NP_776152 Q8NEN9 PDZD8_HUMAN Homo sapiens PDZ domain containing 8 (PDZD8), mRNA. 600 Pro-rich. intracellular signal transduction metal ion binding kidney(3)|large_intestine(8)|lung(24)|upper_aerodigestive_tract(3) 38 Colorectal(252;0.19) all cancers(201;0.0121) GAAGGCAAAGGAACTTTCGCT 0.488000 84 54 0 0 0.000781405 0 0 ZPLD1 131368 broad.mit.edu 37 3 102196369 102196369 + Silent SNP C T T TCGA-EE-A3AC-06A-11D-A196-08 TCGA-EE-A3AC-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 883d623b-c427-4444-9ee3-66d18648130f f8f00311-8db5-4187-bcb8-5054d9fbdac3 g.chr3:102196369C>T uc003dvt.1 + 10 1303 c.1203C>T c.(1201-1203)agC>agT p.S401S ZPLD1_uc003dvs.1_Silent_p.S385S|ZPLD1_uc011bhg.1_Silent_p.S385S NM_175056 NP_778226 Q8TCW7 ZPLD1_HUMAN Homo sapiens zona pellucida-like domain containing 1 (ZPLD1), mRNA. 385 integral to membrane p.S401S(2) central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(7)|lung(18)|ovary(2)|skin(3) 35 GAGTTACGAGCTTTTCTCTTC 0.468000 73 44 0 0 0.000781405 0 0 DCDC2 51473 broad.mit.edu 37 6 24278405 24278405 + Missense_Mutation SNP G A A TCGA-EE-A3AC-06A-11D-A196-08 TCGA-EE-A3AC-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 883d623b-c427-4444-9ee3-66d18648130f f8f00311-8db5-4187-bcb8-5054d9fbdac3 g.chr6:24278405G>A uc003ndx.3 - 6 1096 c.794C>T c.(793-795)tCc>tTc p.S265F DCDC2_uc003ndy.3_Missense_Mutation_p.S265F NM_016356 NP_057440 Q9UHG0 DCDC2_HUMAN Homo sapiens doublecortin domain containing 2 (DCDC2), transcript variant 1, mRNA. 265 cellular defense response|intracellular signal transduction|neuron migration breast(1)|endometrium(2)|kidney(3)|large_intestine(8)|lung(12)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1) 32 Ovarian(999;0.101) GTTGTCACTGGATCCAACTGT 0.363000 30 21 0 0 0.00047179 0 0 FAM194A 131831 broad.mit.edu 37 3 150377804 150377804 + Missense_Mutation SNP C T T TCGA-EE-A3AC-06A-11D-A196-08 TCGA-EE-A3AC-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 883d623b-c427-4444-9ee3-66d18648130f f8f00311-8db5-4187-bcb8-5054d9fbdac3 g.chr3:150377804C>T uc003eyg.3 - 13 1924 c.1867G>A c.(1867-1869)Gaa>Aaa p.E623K FAM194A_uc003eyh.3_Missense_Mutation_p.E477K NM_152394 NP_689607 Q7L0X2 F194A_HUMAN Homo sapiens family with sequence similarity 194, member A (FAM194A), mRNA. 623 NS(1)|autonomic_ganglia(1)|breast(2)|endometrium(3)|kidney(1)|large_intestine(10)|lung(14)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1) 38 TTTAATTTTTCCCAAACCTGG 0.383000 58 37 0 0 0.00111076 0 0 CCDC167 154467 broad.mit.edu 37 6 37451045 37451045 + Missense_Mutation SNP G A A TCGA-EE-A3AC-06A-11D-A196-08 TCGA-EE-A3AC-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 883d623b-c427-4444-9ee3-66d18648130f f8f00311-8db5-4187-bcb8-5054d9fbdac3 g.chr6:37451045G>A uc003ont.3 - 3 272 c.211C>T c.(211-213)Cgg>Tgg p.R71W NM_138493 NP_612502 Q9P0B6 CF129_HUMAN Homo sapiens coiled-coil domain containing 167 (CCDC167), mRNA. 71 integral to membrane p.L70V(1) endometrium(1)|large_intestine(2)|lung(2)|skin(1) 6 TTCTCTTGCCGAAGAAACTTC 0.542000 38 24 0 0 0.000720815 0 0 MYBPC3 4607 broad.mit.edu 37 11 47374254 47374254 + Splice_Site SNP G A A TCGA-EE-A3AC-06A-11D-A196-08 TCGA-EE-A3AC-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 883d623b-c427-4444-9ee3-66d18648130f f8f00311-8db5-4187-bcb8-5054d9fbdac3 g.chr11:47374254G>A uc021qis.1 - 1 1 c.-54_splice c.e1-1 MYBPC3_uc021qir.1_Splice_Site|SLC39A13_uc001nfd.3_5'Flank NM_000256 NP_000247 Q14896 MYPC3_HUMAN Homo sapiens myosin binding protein C, cardiac (MYBPC3), mRNA. cardiac muscle contraction|cell adhesion|muscle filament sliding|regulation of muscle filament sliding|regulation of striated muscle contraction|ventricular cardiac muscle tissue morphogenesis C zone|cytosol|striated muscle myosin thick filament ATPase activator activity|actin binding|metal ion binding|myosin heavy chain binding|structural constituent of muscle|titin binding breast(2)|central_nervous_system(2)|endometrium(9)|kidney(1)|large_intestine(4)|lung(16)|ovary(3)|prostate(3)|urinary_tract(2) 42 Lung(87;0.176) AAGAGGGACTGAGTGGGGTCC 0.567000 36 16 0 0 0.000422831 0 0 TGIF2LX 90316 broad.mit.edu 37 X 89177475 89177475 + Missense_Mutation SNP C T T TCGA-EE-A3AC-06A-11D-A196-08 TCGA-EE-A3AC-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 883d623b-c427-4444-9ee3-66d18648130f f8f00311-8db5-4187-bcb8-5054d9fbdac3 g.chrX:89177475C>T uc022bzr.1 + 0 391 c.391C>T c.(391-393)Cat>Tat p.H131Y TGIF2LX_uc004efe.3_Missense_Mutation_p.H131Y NM_138960 NP_620410 Q8IUE1 TF2LX_HUMAN Homo sapiens TGFB-induced factor homeobox 2-like, X-linked (TGIF2LX), mRNA. 131 nucleus sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity p.H131I(2)|p.H131L(1) central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(29)|ovary(1)|skin(3)|urinary_tract(1) 40 CAAAGATGCCCATGCCACCCA 0.562000 5 19 0 0 0.001512 0 0 TTC18 118491 broad.mit.edu 37 10 75035313 75035313 + Missense_Mutation SNP C T T TCGA-EE-A3AC-06A-11D-A196-08 TCGA-EE-A3AC-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 883d623b-c427-4444-9ee3-66d18648130f f8f00311-8db5-4187-bcb8-5054d9fbdac3 g.chr10:75035313C>T uc009xrc.3 - 22 2895 c.2774G>A c.(2773-2775)gGa>gAa p.G925E TTC18_uc001jty.3_Missense_Mutation_p.G925E|DNAJC9-AS1_uc021ptm.1_Non-coding_Transcript|TTC18_uc001jtv.4_Missense_Mutation_p.G29E|TTC18_uc001jtw.4_Missense_Mutation_p.G29E|TTC18_uc001jtx.3_Missense_Mutation_p.G306E NM_145170 NP_660153 Q5T0N1 TTC18_HUMAN Homo sapiens tetratricopeptide repeat domain 18 (TTC18), mRNA. 925 binding breast(1)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(6)|lung(13)|ovary(2)|prostate(2)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(1) 34 Prostate(51;0.0119) GCTGGGGCCTCCTTGAGGGCA 0.453000 105 75 0 0 0.000781405 0 0 UBE4A 9354 broad.mit.edu 37 11 118250261 118250261 + Missense_Mutation SNP C T T TCGA-EE-A3AC-06A-11D-A196-08 TCGA-EE-A3AC-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 883d623b-c427-4444-9ee3-66d18648130f f8f00311-8db5-4187-bcb8-5054d9fbdac3 g.chr11:118250261C>T uc001psw.3 + 10 1807 c.1672C>T c.(1672-1674)Cgt>Tgt p.R558C UBE4A_uc001psv.3_Missense_Mutation_p.R565C NM_001204077 NP_001191006 Q14139 UBE4A_HUMAN Homo sapiens ubiquitination factor E4A (UBE4A), transcript variant 2, mRNA. 558 ubiquitin-dependent protein catabolic process ubiquitin ligase complex protein binding autonomic_ganglia(1)|breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(17)|large_intestine(7)|liver(2)|lung(14)|ovary(3)|prostate(1)|upper_aerodigestive_tract(5)|urinary_tract(2) 56 all_hematologic(175;0.046) Medulloblastoma(222;0.0425)|Breast(348;0.181)|all_hematologic(192;0.196)|all_neural(223;0.234) BRCA - Breast invasive adenocarcinoma(274;3.28e-05) TGACAATCTTCGTGAGCAGTT 0.473000 44 41 0 0 0.000509022 0 0 OR2T1 26696 broad.mit.edu 37 1 248570329 248570329 + Missense_Mutation SNP A C C TCGA-EE-A3AC-06A-11D-A196-08 TCGA-EE-A3AC-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 883d623b-c427-4444-9ee3-66d18648130f f8f00311-8db5-4187-bcb8-5054d9fbdac3 g.chr1:248570329A>C uc010pzm.2 + 0 1034 c.1034A>C c.(1033-1035)aAg>aCg p.K345T NM_030904 NP_112166 O43869 OR2T1_HUMAN Homo sapiens olfactory receptor, family 2, subfamily T, member 1 (OR2T1), mRNA. 345 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) CTTAGAAACAAGGATGTGACT 0.512000 43 42 0 0 0.000781405 0 0 MYO5B 4645 broad.mit.edu 37 18 47488689 47488689 + Missense_Mutation SNP C T T TCGA-EE-A3AC-06A-11D-A196-08 TCGA-EE-A3AC-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 883d623b-c427-4444-9ee3-66d18648130f f8f00311-8db5-4187-bcb8-5054d9fbdac3 g.chr18:47488689C>T uc002leb.2 - 11 1780 c.1492G>A c.(1492-1494)Gac>Aac p.D498N MYO5B_uc021ukb.1_Missense_Mutation_p.D497N NM_001080467 NP_001073936 Q9ULV0 MYO5B_HUMAN Homo sapiens myosin VB (MYO5B), mRNA. 498 Myosin head-like. protein transport myosin complex ATP binding|actin binding|calmodulin binding|motor activity NS(1)|breast(6)|central_nervous_system(2)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(9)|large_intestine(6)|lung(29)|ovary(3)|pancreas(1)|prostate(1)|skin(9)|upper_aerodigestive_tract(2)|urinary_tract(4) 87 READ - Rectum adenocarcinoma(32;0.103) TCAATGAGGTCGATACAAGGT 0.403000 49 32 0 0 0.00058488 0 0 OR1L1 26737 broad.mit.edu 37 9 125423999 125423999 + Missense_Mutation SNP G A A TCGA-EE-A3AC-06A-11D-A196-08 TCGA-EE-A3AC-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 883d623b-c427-4444-9ee3-66d18648130f f8f00311-8db5-4187-bcb8-5054d9fbdac3 g.chr9:125423999G>A uc022bmz.1 + 0 5 c.5G>A c.(4-6)gGa>gAa p.G2E NM_001005236 NP_001005236 Q8NH94 OR1L1_HUMAN Homo sapiens olfactory receptor, family 1, subfamily L, member 1 (OR1L1), mRNA. 52 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity breast(1)|kidney(2)|large_intestine(2)|lung(4)|ovary(1)|pancreas(1)|skin(5)|upper_aerodigestive_tract(1) 17 ACAACTATGGGAAGAAATAAC 0.418000 39 29 0 0 0.0024448 0 0 XIRP2 129446 broad.mit.edu 37 2 168101155 168101155 + Missense_Mutation SNP G A A TCGA-EE-A3AC-06A-11D-A196-08 TCGA-EE-A3AC-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 883d623b-c427-4444-9ee3-66d18648130f f8f00311-8db5-4187-bcb8-5054d9fbdac3 g.chr2:168101155G>A uc002udx.3 + 8 3342 c.3253G>A c.(3253-3255)Gat>Aat p.D1085N XIRP2_uc010fpn.3_Intron|XIRP2_uc010fpo.3_Intron|XIRP2_uc002udy.3_Missense_Mutation_p.D910N|XIRP2_uc010fpq.3_Missense_Mutation_p.D863N|XIRP2_uc010fpr.3_Intron NM_152381 NP_689594 A4UGR9 XIRP2_HUMAN Homo sapiens xin actin-binding repeat containing 2 (XIRP2), transcript variant 1, mRNA. 910 actin cytoskeleton organization cell junction actin binding NS(3)|biliary_tract(2)|breast(5)|cervix(3)|endometrium(16)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(51)|lung(160)|ovary(7)|pancreas(3)|prostate(11)|skin(14)|stomach(5)|upper_aerodigestive_tract(8)|urinary_tract(7) 315 ACAAACTAGAGATATTGTTAA 0.353000 16 13 0 0 0.000219431 0 0 OR11H6 122748 broad.mit.edu 37 14 20692397 20692397 + Missense_Mutation SNP C T T TCGA-EE-A3AC-06A-11D-A196-08 TCGA-EE-A3AC-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 883d623b-c427-4444-9ee3-66d18648130f f8f00311-8db5-4187-bcb8-5054d9fbdac3 g.chr14:20692397C>T uc010tlc.2 + 0 529 c.529C>T c.(529-531)Cct>Tct p.P177S NM_001004480 NP_001004480 Q8NGC7 O11H6_HUMAN Homo sapiens olfactory receptor, family 11, subfamily H, member 6 (OR11H6), mRNA. 177 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity p.V176D(1) cervix(1)|endometrium(2)|kidney(1)|large_intestine(6)|liver(1)|lung(13)|ovary(2)|prostate(1)|skin(2) 29 all_cancers(95;0.00108) Epithelial(56;1.75e-06)|all cancers(55;1.22e-05) GBM - Glioblastoma multiforme(265;0.0143) CTATCCAGTCCCTATTGTTCT 0.502000 8 14 0 0 0.000219431 0 0 CACNA1C 775 broad.mit.edu 37 12 2705039 2705039 + Splice_Site SNP G A A TCGA-EE-A3AC-06A-11D-A196-08 TCGA-EE-A3AC-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 883d623b-c427-4444-9ee3-66d18648130f f8f00311-8db5-4187-bcb8-5054d9fbdac3 g.chr12:2705039G>A uc009zdu.1 + 20 2977 c.2664_splice c.e20-1 p.R888_splice CACNA1C_uc001qkc.2_Splice_Site_p.R888_splice|CACNA1C_uc001qjz.2_Splice_Site_p.R888_splice|CACNA1C_uc001qkd.2_Splice_Site_p.R888_splice|CACNA1C_uc001qke.2_Splice_Site_p.R888_splice|CACNA1C_uc001qkf.2_Splice_Site_p.R888_splice|CACNA1C_uc009zdw.1_Splice_Site_p.R888_splice|CACNA1C_uc001qkg.2_Splice_Site_p.R888_splice|CACNA1C_uc001qkh.2_Splice_Site_p.R888_splice|CACNA1C_uc001qkl.2_Splice_Site_p.R888_splice|CACNA1C_uc001qkj.2_Splice_Site_p.R888_splice|CACNA1C_uc001qkk.2_Splice_Site_p.R888_splice|CACNA1C_uc001qkn.2_Splice_Site_p.R888_splice|CACNA1C_uc001qkm.2_Splice_Site_p.R888_splice|CACNA1C_uc001qko.2_Splice_Site_p.R888_splice|CACNA1C_uc001qkp.2_Splice_Site_p.R888_splice|CACNA1C_uc001qkq.2_Splice_Site_p.R888_splice|CACNA1C_uc001qku.2_Splice_Site_p.R888_splice|CACNA1C_uc001qkr.2_Splice_Site_p.R888_splice|CACNA1C_uc001qks.2_Splice_Site_p.R888_splice|CACNA1C_uc001qkt.2_Splice_Site_p.R888_splice|CACNA1C_uc009zdv.1_Splice_Site_p.R885_splice|CACNA1C_uc001qkb.2_Splice_Site_p.R888_splice|CACNA1C_uc001qka.1_Splice_Site_p.R423_splice|CACNA1C_uc001qki.1_Splice_Site_p.R624_splice NM_199460 NP_955630 Q13936 CAC1C_HUMAN Homo sapiens calcium channel, voltage-dependent, L type, alpha 1C subunit (CACNA1C), transcript variant 1, mRNA. 888 axon guidance|calcium ion transport into cytosol|energy reserve metabolic process|regulation of insulin secretion cytoplasm|postsynaptic density|voltage-gated calcium channel complex calmodulin binding|voltage-gated calcium channel activity NS(3)|breast(4)|central_nervous_system(4)|cervix(2)|endometrium(12)|kidney(9)|large_intestine(20)|lung(55)|ovary(10)|pancreas(1)|prostate(5)|skin(3)|upper_aerodigestive_tract(4) 132 OV - Ovarian serous cystadenocarcinoma(31;0.00256) LUAD - Lung adenocarcinoma(1;0.134) Ibutilide(DB00308)|Isradipine(DB00270)|Magnesium Sulfate(DB00653)|Mibefradil(DB01388)|Nicardipine(DB00622)|Verapamil(DB00661) CTCCCGTACAGGTTTCGCCTC 0.577000 28 28 0 0 0.001512 0 0 B4GALNT2 124872 broad.mit.edu 37 17 47243605 47243605 + Missense_Mutation SNP G A A TCGA-EE-A3AC-06A-11D-A196-08 TCGA-EE-A3AC-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 883d623b-c427-4444-9ee3-66d18648130f f8f00311-8db5-4187-bcb8-5054d9fbdac3 g.chr17:47243605G>A uc002ion.2 + 8 1323 c.1264G>A c.(1264-1266)Gaa>Aaa p.E422K B4GALNT2_uc010wlt.1_Missense_Mutation_p.E336K|B4GALNT2_uc010wlu.1_Missense_Mutation_p.E362K NM_153446 NP_001152860 Q8NHY0 B4GN2_HUMAN Homo sapiens beta-1,4-N-acetyl-galactosaminyl transferase 2 (B4GALNT2), transcript variant 1, mRNA. 422 UDP-N-acetylgalactosamine metabolic process|lipid glycosylation|negative regulation of cell-cell adhesion integral to Golgi membrane acetylgalactosaminyltransferase activity endometrium(3)|large_intestine(6)|liver(2)|lung(8)|ovary(1)|prostate(1)|skin(1)|stomach(1)|urinary_tract(1) 24 all cancers(6;0.000316) GGAGAAAACAGAACTGGACGT 0.483000 40 37 0 0 0.000509022 0 0 FCN1 2219 broad.mit.edu 37 9 137801805 137801805 + Missense_Mutation SNP A G G TCGA-EE-A3AC-06A-11D-A196-08 TCGA-EE-A3AC-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 883d623b-c427-4444-9ee3-66d18648130f f8f00311-8db5-4187-bcb8-5054d9fbdac3 g.chr9:137801805A>G uc004cfi.3 - 8 909 c.820T>C c.(820-822)Ttc>Ctc p.F274L NM_002003 NP_001994 O00602 FCN1_HUMAN Homo sapiens ficolin (collagen/fibrinogen domain containing) 1 (FCN1), mRNA. 274 Fibrinogen C-terminal. opsonization|signal transduction collagen|extracellular space antigen binding|calcium ion binding|receptor binding|sugar binding endometrium(3)|kidney(3)|large_intestine(8)|lung(13)|ovary(1)|pancreas(1)|prostate(3)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1) 37 Myeloproliferative disorder(178;0.0333) OV - Ovarian serous cystadenocarcinoma(145;3.46e-08)|Epithelial(140;6.01e-08)|all cancers(34;3.69e-07) GCTCCTTGGAACTTCTCAGCA 0.478000 99 63 0 0 0.000781405 0 0 MAGI3 260425 broad.mit.edu 37 1 114184796 114184796 + Missense_Mutation SNP G A A TCGA-EE-A3AC-06A-11D-A196-08 TCGA-EE-A3AC-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 883d623b-c427-4444-9ee3-66d18648130f f8f00311-8db5-4187-bcb8-5054d9fbdac3 g.chr1:114184796G>A uc001edk.3 + 9 1805 c.1624G>A c.(1624-1626)Gga>Aga p.G542R MAGI3_uc001edh.3_Missense_Mutation_p.G567R|MAGI3_uc001edi.4_Missense_Mutation_p.G542R|MAGI3_uc010owm.2_Missense_Mutation_p.G567R|MAGI3_uc001edj.3_Missense_Mutation_p.G263R NM_001142782 NP_001136254 Q5TCQ9 MAGI3_HUMAN Homo sapiens membrane associated guanylate kinase, WW and PDZ domain containing 3 (MAGI3), transcript variant 1, mRNA. 567 apoptosis|interspecies interaction between organisms|intracellular signal transduction nucleus|tight junction ATP binding|guanylate kinase activity|protein binding NS(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(8)|lung(9)|ovary(3)|prostate(7)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2) 41 Lung SC(450;0.184) all_cancers(81;2.34e-09)|all_epithelial(167;7.41e-09)|all_lung(203;7.13e-06)|Lung NSC(69;1.2e-05) Lung(183;0.0234)|Colorectal(144;0.0686)|all cancers(265;0.0792)|Epithelial(280;0.0866)|COAD - Colon adenocarcinoma(174;0.111)|LUSC - Lung squamous cell carcinoma(189;0.133) GGAGCAGAATGGAAAATCGGG 0.498000 68 48 0 0 0.000781405 0 0 CACNA2D3 55799 broad.mit.edu 37 3 54604048 54604048 + Missense_Mutation SNP G A A TCGA-EE-A3AC-06A-11D-A196-08 TCGA-EE-A3AC-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 883d623b-c427-4444-9ee3-66d18648130f f8f00311-8db5-4187-bcb8-5054d9fbdac3 g.chr3:54604048G>A uc003dhf.3 + 7 853 c.805G>A c.(805-807)Gga>Aga p.G269R CACNA2D3_uc011beu.1_Non-coding_Transcript|CACNA2D3_uc003dhg.1_Missense_Mutation_p.G175R|CACNA2D3_uc003dhh.1_Non-coding_Transcript|CACNA2D3_uc010hmv.1_Missense_Mutation_p.G3R NM_018398 NP_060868 Q8IZS8 CA2D3_HUMAN Homo sapiens calcium channel, voltage-dependent, alpha 2/delta subunit 3 (CACNA2D3), mRNA. 269 VWFA. integral to membrane calcium channel activity|metal ion binding|voltage-gated ion channel activity NS(1)|breast(3)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(17)|lung(17)|ovary(1)|prostate(1)|skin(5)|stomach(1)|urinary_tract(3) 59 KIRC - Kidney renal clear cell carcinoma(284;0.00287)|Kidney(284;0.00327) CAGCATGAAAGGACTCCGTCT 0.433000 68 40 0 0 0.00128727 0 0 NIN 51199 broad.mit.edu 37 14 51226703 51226703 + Silent SNP G A A TCGA-EE-A3AC-06A-11D-A196-08 TCGA-EE-A3AC-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 883d623b-c427-4444-9ee3-66d18648130f f8f00311-8db5-4187-bcb8-5054d9fbdac3 g.chr14:51226703G>A uc001wyi.3 - 16 2462 c.2271C>T c.(2269-2271)ggC>ggT p.G757G NIN_uc001wyj.3_Non-coding_Transcript|NIN_uc001wym.2_Silent_p.G757G|NIN_uc001wyk.3_Silent_p.G757G|NIN_uc001wyo.3_Silent_p.G757G NM_020921 NP_065972 Q8N4C6 NIN_HUMAN Homo sapiens ninein (GSK3B interacting protein) (NIN), transcript variant 2, mRNA. 757 centrosome localization centrosome|microtubule GTP binding|calcium ion binding|protein binding breast(4)|central_nervous_system(1)|cervix(2)|endometrium(10)|kidney(5)|large_intestine(13)|lung(16)|ovary(1)|pancreas(1)|prostate(5)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(5) 71 all_epithelial(31;0.00244)|Breast(41;0.127) CCTGAGTCAAGCCTCTCACCT 0.512000 T PDGFRB MPD 76 34 0 0 0.000692331 0 0 NAALADL2 254827 broad.mit.edu 37 3 174974280 174974280 + Silent SNP C T T TCGA-EE-A3AC-06A-11D-A196-08 TCGA-EE-A3AC-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 883d623b-c427-4444-9ee3-66d18648130f f8f00311-8db5-4187-bcb8-5054d9fbdac3 g.chr3:174974280C>T uc003fit.3 + 3 987 c.900C>T c.(898-900)atC>atT p.I300I NAALADL2_uc003fiu.1_Silent_p.I293I|NAALADL2_uc010hwy.1_Silent_p.I122I|NAALADL2_uc010hwz.1_5'UTR NM_207015 NP_996898 Q58DX5 NADL2_HUMAN Homo sapiens N-acetylated alpha-linked acidic dipeptidase-like 2 (NAALADL2), mRNA. 300 proteolysis integral to membrane peptidase activity central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(5)|lung(20)|pancreas(1)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(4) 49 Ovarian(172;0.0102) all_cancers(1;0.0272)|all_epithelial(1;0.0553) OV - Ovarian serous cystadenocarcinoma(80;9.26e-28) Colorectal(1;1.66e-10)|COAD - Colon adenocarcinoma(1;2.1e-07)|STAD - Stomach adenocarcinoma(1;0.00261)|READ - Rectum adenocarcinoma(3;0.0284) CAAATCAGATCGCACTCCTGA 0.353000 58 26 0 0 0.00127121 0 0 TPTE2 93492 broad.mit.edu 37 13 20048070 20048070 + Nonsense_Mutation SNP G A A TCGA-EE-A3AC-06A-11D-A196-08 TCGA-EE-A3AC-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 883d623b-c427-4444-9ee3-66d18648130f f8f00311-8db5-4187-bcb8-5054d9fbdac3 g.chr13:20048070G>A uc001umd.3 - 6 587 c.376C>T c.(376-378)Cga>Tga p.R126* TPTE2_uc009zzk.3_Intron|TPTE2_uc009zzl.3_Intron|TPTE2_uc001ume.3_Nonsense_Mutation_p.R89*|TPTE2_uc009zzm.3_5'UTR|TPTE2_uc010tcm.2_Non-coding_Transcript NM_199254 NP_954863 Q6XPS3 TPTE2_HUMAN Homo sapiens transmembrane phosphoinositide 3-phosphatase and tensin homolog 2 (TPTE2), transcript variant 3, mRNA. 126 endoplasmic reticulum membrane|integral to membrane ion channel activity|phosphatidylinositol-3,4,5-trisphosphate 3-phosphatase activity|protein tyrosine phosphatase activity|protein tyrosine/serine/threonine phosphatase activity p.R89G(1)|p.R126G(1) NS(2)|breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|kidney(7)|large_intestine(8)|lung(21)|pancreas(1)|prostate(8)|skin(6)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 65 all_cancers(29;1.23e-20)|all_lung(29;1.97e-20)|all_epithelial(30;5.86e-20)|Lung NSC(5;3.36e-17)|Lung SC(185;0.0262)|Ovarian(182;0.162) all cancers(112;1.73e-05)|Epithelial(112;7.42e-05)|OV - Ovarian serous cystadenocarcinoma(117;0.000785)|Lung(94;0.0176)|LUSC - Lung squamous cell carcinoma(192;0.089) ACAAATACTCGAAGAAGAACA 0.358000 49 37 0 0 0.000692331 0 0 MYPN 84665 broad.mit.edu 37 10 69918341 69918341 + Silent SNP G A A TCGA-EE-A3AC-06A-11D-A196-08 TCGA-EE-A3AC-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 883d623b-c427-4444-9ee3-66d18648130f f8f00311-8db5-4187-bcb8-5054d9fbdac3 g.chr10:69918341G>A uc001jnm.4 + 7 1601 c.1416G>A c.(1414-1416)ggG>ggA p.G472G MYPN_uc001jnl.1_Silent_p.G472G|MYPN_uc001jnn.4_Silent_p.G197G|MYPN_uc001jno.4_Silent_p.G472G|MYPN_uc001jnp.1_Silent_p.G472G|MYPN_uc009xps.3_Silent_p.G472G|MYPN_uc009xpt.3_Silent_p.G472G|MYPN_uc010qit.2_Silent_p.G178G|MYPN_uc010qiu.2_Non-coding_Transcript NM_032578 NP_115967 Q86TC9 MYPN_HUMAN Homo sapiens myopalladin (MYPN), transcript variant 1, mRNA. 472 Ig-like 2.|Interaction with CARP. nucleus|sarcomere actin binding p.E471D(1) breast(2)|central_nervous_system(1)|endometrium(13)|kidney(6)|large_intestine(13)|liver(1)|lung(43)|ovary(3)|prostate(1)|skin(6)|upper_aerodigestive_tract(5) 94 ATAGAGAAGGGACTTTAATAG 0.328000 43 28 0 0 0.00106085 0 0 CPT2 1376 broad.mit.edu 37 1 53676142 53676143 + Missense_Mutation DNP CC TT TT TCGA-EE-A3AC-06A-11D-A196-08 TCGA-EE-A3AC-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 883d623b-c427-4444-9ee3-66d18648130f f8f00311-8db5-4187-bcb8-5054d9fbdac3 g.chr1:53676142_53676143CC>TT uc001cvb.4 + 3 1311_1312 c.796_797CC>TT c.(796-798)ccc>TTc p.P266F NM_000098 NP_000089 P23786 CPT2_HUMAN Homo sapiens carnitine palmitoyltransferase 2 (CPT2), nuclear gene encoding mitochondrial protein, mRNA. 266 carnitine shuttle|fatty acid beta-oxidation|regulation of fatty acid oxidation mitochondrial inner membrane carnitine O-palmitoyltransferase activity breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(2)|lung(7)|skin(1)|upper_aerodigestive_tract(1) 15 L-Carnitine(DB00583)|Perhexiline(DB01074) CATTGTGAGCCCCTCGGAAATC 0.505000 38 19 0 0 6.4e-05 0 0 TRANK1 9881 broad.mit.edu 37 3 36872699 36872700 + Missense_Mutation DNP CC TT TT rs113812469 TCGA-EE-A3AC-06A-11D-A196-08 TCGA-EE-A3AC-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 883d623b-c427-4444-9ee3-66d18648130f f8f00311-8db5-4187-bcb8-5054d9fbdac3 g.chr3:36872699_36872700CC>TT uc003cgj.3 - 20 8490_8491 c.8242_8243GG>AA c.(8242-8244)ggg>AAg p.G2748K NM_014831 NP_055646 O15050 TRNK1_HUMAN Homo sapiens tetratricopeptide repeat and ankyrin repeat containing 1 (TRANK1), mRNA. 2748 DNA repair ATP binding|ATP-dependent DNA helicase activity|DNA binding NS(2)|autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(18)|lung(20)|ovary(1)|prostate(3)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(2) 73 GGAAGCTGCCCCCTCAAACGCT 0.545000 25 21 0 0 6.4e-05 0 0 ZC3H18 124245 broad.mit.edu 37 16 88643950 88643951 + Missense_Mutation DNP CC TT TT TCGA-EE-A3AC-06A-11D-A196-08 TCGA-EE-A3AC-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 883d623b-c427-4444-9ee3-66d18648130f f8f00311-8db5-4187-bcb8-5054d9fbdac3 g.chr16:88643950_88643951CC>TT uc010voz.2 + 1 619_620 c.419_420CC>TT c.(418-420)ccc>cTT p.P140L ZC3H18_uc021tmm.1_Missense_Mutation_p.P140L|ZC3H18_uc010voy.1_Intron|ZC3H18_uc002fky.3_Missense_Mutation_p.P140L|ZC3H18_uc010vpa.1_Missense_Mutation_p.P140L NM_144604 NP_653205 Q86VM9 ZCH18_HUMAN Homo sapiens zinc finger CCCH-type containing 18 (ZC3H18), mRNA. 140 nucleus nucleic acid binding|zinc ion binding endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(9)|lung(16)|ovary(1)|skin(2)|upper_aerodigestive_tract(1) 42 BRCA - Breast invasive adenocarcinoma(80;0.0542) GAGCCAGCTCCCGCCGTCCAGG 0.614000 17 8 0 0 6.4e-05 0 0 LOC649330 649330 broad.mit.edu 37 1 12907921 12907921 + Missense_Mutation SNP C T T TCGA-EE-A3AC-06A-11D-A196-08 TCGA-EE-A3AC-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 883d623b-c427-4444-9ee3-66d18648130f f8f00311-8db5-4187-bcb8-5054d9fbdac3 g.chr1:12907921C>T uc010obf.2 - 1 448 c.222G>A c.(220-222)atG>atA p.M74I LOC649330_uc009vno.2_Missense_Mutation_p.M74I NM_001013631 NP_001013653 B7ZW38 B7ZW38_HUMAN Homo sapiens heterogeneous nuclear ribonucleoprotein C-like 1 (HNRNPCL1), mRNA. 74 nucleic acid binding|nucleotide binding GGCTAGCAATCATTCTGCCAT 0.502000 87 15 0 0 0.000422831 0 0 FASLG 356 broad.mit.edu 37 1 172634869 172634869 + Missense_Mutation SNP G A A TCGA-EE-A3AC-06A-11D-A196-08 TCGA-EE-A3AC-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 883d623b-c427-4444-9ee3-66d18648130f f8f00311-8db5-4187-bcb8-5054d9fbdac3 g.chr1:172634869G>A uc001gis.3 + 3 716 c.559G>A c.(559-561)Ggg>Agg p.G187R FASLG_uc001git.3_3'UTR NM_000639 NP_000630 P48023 TNFL6_HUMAN Homo sapiens Fas ligand (TNF superfamily, member 6) (FASLG), mRNA. 187 activation of caspase activity|activation of pro-apoptotic gene products|cell-cell signaling|immune response|induction of necroptosis by extracellular signals|induction of necroptosis of activated-T cells|necrotic cell death|negative regulation of angiogenesis|positive regulation of I-kappaB kinase/NF-kappaB cascade|signal transduction extracellular space|integral to plasma membrane cytokine activity breast(1)|cervix(1)|endometrium(1)|large_intestine(2)|lung(12)|prostate(1)|skin(1) 19 CAATGAAACTGGGCTGTACTT 0.468000 58 27 0 0 0.00209593 0 0 VPS13B 157680 broad.mit.edu 37 8 100865925 100865925 + Silent SNP G A A TCGA-EE-A3AC-06A-11D-A196-08 TCGA-EE-A3AC-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 883d623b-c427-4444-9ee3-66d18648130f f8f00311-8db5-4187-bcb8-5054d9fbdac3 g.chr8:100865925G>A uc003yiv.3 + 55 10494 c.10383G>A c.(10381-10383)aaG>aaA p.K3461K VPS13B_uc003yiw.3_Silent_p.K3436K NM_017890 NP_060360 Q7Z7G8 VP13B_HUMAN Homo sapiens vacuolar protein sorting 13 homolog B (yeast) (VPS13B), transcript variant 5, mRNA. 3461 protein transport NS(1)|autonomic_ganglia(1)|breast(6)|central_nervous_system(4)|cervix(3)|endometrium(11)|haematopoietic_and_lymphoid_tissue(4)|kidney(10)|large_intestine(37)|lung(78)|ovary(8)|pancreas(3)|prostate(5)|skin(9)|upper_aerodigestive_tract(4)|urinary_tract(9) 193 Breast(36;3.73e-07) OV - Ovarian serous cystadenocarcinoma(57;0.00636) TTTATAACAAGTCCAATTTCC 0.488000 40 25 0 0 0.000720815 0 0 B4GALNT4 338707 broad.mit.edu 37 11 380832 380832 + Nonsense_Mutation SNP G A A TCGA-EE-A3AC-06A-11D-A196-08 TCGA-EE-A3AC-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 883d623b-c427-4444-9ee3-66d18648130f f8f00311-8db5-4187-bcb8-5054d9fbdac3 g.chr11:380832G>A uc001lpb.3 + 18 2886 c.2877G>A c.(2875-2877)tgG>tgA p.W959* NM_178537 NP_848632 Q76KP1 B4GN4_HUMAN Homo sapiens beta-1,4-N-acetyl-galactosaminyl transferase 4 (B4GALNT4), mRNA. 959 Golgi cisterna membrane|integral to membrane N-acetyl-beta-glucosaminyl-glycoprotein 4-beta-N-acetylgalactosaminyltransferase activity endometrium(2)|kidney(4)|large_intestine(1)|liver(2)|lung(7)|ovary(2)|pancreas(1)|prostate(4)|upper_aerodigestive_tract(1) 24 all_cancers(49;1.59e-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;1.56e-27)|Epithelial(43;9.31e-27)|OV - Ovarian serous cystadenocarcinoma(40;1.11e-20)|BRCA - Breast invasive adenocarcinoma(625;3.56e-05)|Lung(200;0.0182)|LUSC - Lung squamous cell carcinoma(625;0.0703) CAGGTTACTGGGAGGTGAACG 0.622000 27 17 0 0 0.00188189 0 0 ZNF431 170959 broad.mit.edu 37 19 21365636 21365636 + Missense_Mutation SNP C T T TCGA-EE-A3AC-06A-11D-A196-08 TCGA-EE-A3AC-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 883d623b-c427-4444-9ee3-66d18648130f f8f00311-8db5-4187-bcb8-5054d9fbdac3 g.chr19:21365636C>T uc010ecr.2 + 4 680 c.533C>T c.(532-534)cCa>cTa p.P178L ZNF431_uc002npp.2_Missense_Mutation_p.P177L|ZNF431_uc010ecq.2_Missense_Mutation_p.P86L NM_133473 NP_597730 Q8TF32 ZN431_HUMAN Homo sapiens zinc finger protein 431 (ZNF431), mRNA. 177 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding breast(1)|central_nervous_system(2)|endometrium(4)|large_intestine(7)|lung(7)|skin(1)|upper_aerodigestive_tract(1) 23 AAAATATTTCCATGTGATAAA 0.328000 32 17 0 0 0.000566183 0 0 ABCC12 94160 broad.mit.edu 37 16 48167728 48167728 + Missense_Mutation SNP C T T TCGA-EE-A3AC-06A-11D-A196-08 TCGA-EE-A3AC-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 883d623b-c427-4444-9ee3-66d18648130f f8f00311-8db5-4187-bcb8-5054d9fbdac3 g.chr16:48167728C>T uc002efc.1 - 6 1344 c.998G>A c.(997-999)aGa>aAa p.R333K ABCC12_uc002eey.1_Non-coding_Transcript|ABCC12_uc002eez.1_Non-coding_Transcript|ABCC12_uc002efa.1_Non-coding_Transcript|ABCC12_uc002efb.1_Non-coding_Transcript|ABCC12_uc002efd.1_Non-coding_Transcript|ABCC12_uc002efe.1_Missense_Mutation_p.R333K|ABCC12_uc010vgj.1_Non-coding_Transcript NM_033226 NP_150229 Q96J65 MRP9_HUMAN Homo sapiens ATP-binding cassette, sub-family C (CFTR/MRP), member 12 (ABCC12), mRNA. 333 ABC transmembrane type-1 1. integral to membrane ATP binding|ATPase activity, coupled to transmembrane movement of substances NS(1)|breast(5)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(15)|liver(1)|lung(43)|ovary(2)|prostate(3)|skin(7)|urinary_tract(1) 90 all_cancers(37;0.0474)|all_lung(18;0.047) CAGTAATTTTCTTTCCCTCCT 0.443000 40 12 0 0 0.00185496 0 0 IL18R1 8809 broad.mit.edu 37 2 103013002 103013002 + Missense_Mutation SNP G A A TCGA-EE-A3AC-06A-11D-A196-08 TCGA-EE-A3AC-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 883d623b-c427-4444-9ee3-66d18648130f f8f00311-8db5-4187-bcb8-5054d9fbdac3 g.chr2:103013002G>A uc002tbw.4 + 10 1432 c.1282G>A c.(1282-1284)Gaa>Aaa p.E428K IL18R1_uc010ywd.2_Missense_Mutation_p.E272K|IL18R1_uc010fiy.3_Missense_Mutation_p.E428K|IL18R1_uc010ywc.2_Missense_Mutation_p.E427K NM_003855 NP_003846 Q13478 IL18R_HUMAN Homo sapiens interleukin 18 receptor 1 (IL18R1), mRNA. 428 TIR. innate immune response integral to membrane|plasma membrane interleukin-1 receptor activity breast(1)|endometrium(3)|large_intestine(11)|lung(12)|ovary(2)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1) 34 TGTTGTTGATGAAATCCACTC 0.343000 30 20 0 0 0.00188189 0 0 USH2A 7399 broad.mit.edu 37 1 216424377 216424377 + Missense_Mutation SNP C T T TCGA-EE-A3AC-06A-11D-A196-08 TCGA-EE-A3AC-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 883d623b-c427-4444-9ee3-66d18648130f f8f00311-8db5-4187-bcb8-5054d9fbdac3 g.chr1:216424377C>T uc001hku.1 - 11 2422 c.2035G>A c.(2035-2037)Gga>Aga p.G679R USH2A_uc001hkv.3_Missense_Mutation_p.G679R NM_206933 NP_996816 O75445 USH2A_HUMAN Homo sapiens Usher syndrome 2A (autosomal recessive, mild) (USH2A), transcript variant 2, mRNA. 679 Laminin EGF-like 3. maintenance of organ identity|photoreceptor cell maintenance|response to stimulus|sensory perception of sound basement membrane|cytoplasm|integral to membrane|stereocilium membrane collagen binding p.G679R(2) NS(7)|breast(20)|central_nervous_system(3)|cervix(2)|endometrium(32)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(71)|liver(2)|lung(282)|ovary(25)|pancreas(2)|prostate(12)|skin(22)|stomach(7)|upper_aerodigestive_tract(20)|urinary_tract(3) 527 OV - Ovarian serous cystadenocarcinoma(81;0.0547)|all cancers(67;0.0875) TTGTAGAATCCATTCTGGCAC 0.438000 HNSCC(13;0.011) 30 17 0 0 0.00188189 0 0 OR4A47 403253 broad.mit.edu 37 11 48510571 48510571 + Missense_Mutation SNP C T T TCGA-EE-A3AC-06A-11D-A196-08 TCGA-EE-A3AC-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 883d623b-c427-4444-9ee3-66d18648130f f8f00311-8db5-4187-bcb8-5054d9fbdac3 g.chr11:48510571C>T uc010rhx.2 + 0 227 c.227C>T c.(226-228)tCc>tTc p.S76F NM_001005512 NP_001005512 Q6IF82 O4A47_HUMAN Homo sapiens olfactory receptor, family 4, subfamily A, member 47 (OR4A47), mRNA. 76 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity NS(1)|breast(2)|endometrium(1)|kidney(1)|large_intestine(2)|lung(18)|ovary(1)|skin(1)|urinary_tract(2) 29 TCATCCATTTCCCCCAGATTG 0.423000 44 18 0 0 0.000566183 0 0 IRAK3 11213 broad.mit.edu 37 12 66605284 66605284 + Silent SNP C T T TCGA-EE-A3AC-06A-11D-A196-08 TCGA-EE-A3AC-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 883d623b-c427-4444-9ee3-66d18648130f f8f00311-8db5-4187-bcb8-5054d9fbdac3 g.chr12:66605284C>T uc001sth.3 + 4 597 c.495C>T c.(493-495)ttC>ttT p.F165F IRAK3_uc010ssy.2_Silent_p.F104F NM_007199 NP_009130 Q9Y616 IRAK3_HUMAN Homo sapiens interleukin-1 receptor-associated kinase 3 (IRAK3), transcript variant 1, mRNA. 165 Protein kinase. MyD88-dependent toll-like receptor signaling pathway|interleukin-1-mediated signaling pathway|negative regulation of MAP kinase activity|negative regulation of NF-kappaB transcription factor activity|negative regulation of innate immune response|negative regulation of interleukin-12 production|negative regulation of interleukin-6 production|negative regulation of macrophage cytokine production|negative regulation of protein catabolic process|negative regulation of protein complex disassembly|negative regulation of toll-like receptor signaling pathway|negative regulation of tumor necrosis factor production|positive regulation of NF-kappaB transcription factor activity|positive regulation of macrophage tolerance induction|response to exogenous dsRNA|response to lipopolysaccharide|response to peptidoglycan cytoplasm|nucleus ATP binding|magnesium ion binding|protein heterodimerization activity|protein homodimerization activity|protein serine/threonine kinase activity breast(3)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(17)|ovary(2)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(2) 36 GBM - Glioblastoma multiforme(28;0.0203) CTAGAAATTTCCACAAAGACT 0.353000 23 24 0 0 0.000375601 0 0 FPGS 2356 broad.mit.edu 37 9 130575600 130575601 + Missense_Mutation DNP CC TT TT TCGA-EE-A3AC-06A-11D-A196-08 TCGA-EE-A3AC-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 883d623b-c427-4444-9ee3-66d18648130f f8f00311-8db5-4187-bcb8-5054d9fbdac3 g.chr9:130575600_130575601CC>TT uc004bsg.1 + 14 1531_1532 c.1481_1482CC>TT c.(1480-1482)ccc>cTT p.P494L FPGS_uc004bsh.1_Missense_Mutation_p.P311L|FPGS_uc011mal.1_Missense_Mutation_p.P468L|FPGS_uc004bsi.1_Missense_Mutation_p.P444L|AK057719_uc004bsl.1_5'Flank NM_004957 NP_004948 Q05932 FOLC_HUMAN Homo sapiens folylpolyglutamate synthase (FPGS), nuclear gene encoding mitochondrial protein, transcript variant 1, mRNA. 494 folic acid metabolic process|nucleobase, nucleoside, nucleotide and nucleic acid metabolic process|one-carbon metabolic process cytosol|mitochondrial matrix ATP binding|tetrahydrofolylpolyglutamate synthase activity endometrium(2)|kidney(1)|lung(3)|ovary(1) 7 L-Glutamic Acid(DB00142) AGCCCAGAGCCCGGTGGGTCCG 0.653000 15 12 0 0 6.4e-05 0 0 CHRND 1144 broad.mit.edu 37 2 233399004 233399004 + Silent SNP G A A TCGA-EE-A3AC-06A-11D-A196-08 TCGA-EE-A3AC-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 883d623b-c427-4444-9ee3-66d18648130f f8f00311-8db5-4187-bcb8-5054d9fbdac3 g.chr2:233399004G>A uc002vsw.3 + 10 1327 c.1323G>A c.(1321-1323)ggG>ggA p.G441G CHRND_uc010zmg.2_Silent_p.G426G|CHRND_uc010zmh.2_Silent_p.G247G NM_000751 NP_000742 Q07001 ACHD_HUMAN Homo sapiens cholinergic receptor, nicotinic, delta (CHRND), mRNA. 441 muscle contraction|musculoskeletal movement|neuromuscular process|skeletal muscle tissue growth|synaptic transmission cell junction|nicotinic acetylcholine-gated receptor-channel complex|postsynaptic membrane nicotinic acetylcholine-activated cation-selective channel activity|receptor activity breast(2)|central_nervous_system(1)|endometrium(2)|large_intestine(5)|liver(1)|lung(17)|ovary(3)|prostate(1)|skin(1)|stomach(1) 34 all_hematologic(139;0.00793)|Renal(207;0.0112)|Acute lymphoblastic leukemia(138;0.0182)|all_lung(227;0.0449)|Lung NSC(271;0.132) Epithelial(121;1.89e-16)|BRCA - Breast invasive adenocarcinoma(100;0.00078)|Lung(119;0.00579)|LUSC - Lung squamous cell carcinoma(224;0.00754) CTGTGGATGGGGCAAACTTCA 0.537000 56 40 0 0 0.000680045 0 0 SYT10 341359 broad.mit.edu 37 12 33532820 33532820 + Missense_Mutation SNP C T T TCGA-EE-A3AC-06A-11D-A196-08 TCGA-EE-A3AC-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 883d623b-c427-4444-9ee3-66d18648130f f8f00311-8db5-4187-bcb8-5054d9fbdac3 g.chr12:33532820C>T uc001rll.1 - 5 1744 c.1447G>A c.(1447-1449)Gaa>Aaa p.E483K SYT10_uc009zju.1_Missense_Mutation_p.E293K NM_198992 NP_945343 Q6XYQ8 SYT10_HUMAN Homo sapiens synaptotagmin X (SYT10), mRNA. 483 cell junction|integral to membrane|synaptic vesicle membrane metal ion binding|transporter activity NS(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|liver(1)|lung(18)|ovary(1)|prostate(3)|skin(4)|urinary_tract(1) 42 Lung NSC(5;8.37e-07)|Acute lymphoblastic leukemia(23;0.0122)|all_hematologic(23;0.0334) GCCAGCATTTCATTCCAGTGG 0.463000 45 19 0 0 0.000958276 0 0 RALGAPB 57148 broad.mit.edu 37 20 37128170 37128171 + Missense_Mutation DNP CC AA AA TCGA-EE-A3AC-06A-11D-A196-08 TCGA-EE-A3AC-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 883d623b-c427-4444-9ee3-66d18648130f f8f00311-8db5-4187-bcb8-5054d9fbdac3 g.chr20:37128170_37128171CC>AA uc002xiw.3 + 4 891_892 c.634_635CC>AA c.(634-636)cca>AAa p.P212K RALGAPB_uc010zvz.1_Missense_Mutation_p.P212K|RALGAPB_uc002xix.3_Missense_Mutation_p.P212K|RALGAPB_uc002xiy.1_Missense_Mutation_p.P212K|RALGAPB_uc002xiz.3_5'UTR NM_020336 NP_065069 Q86X10 RLGPB_HUMAN Homo sapiens Ral GTPase activating protein, beta subunit (non-catalytic) (RALGAPB), mRNA. 212 activation of Ral GTPase activity intracellular Ral GTPase activator activity|protein heterodimerization activity breast(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(8)|lung(29)|ovary(1)|pancreas(1)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(2) 65 TCGGTGCTTCCCAACACCTCCT 0.480000 132 7 0 0 6.4e-05 0 0 RPUSD2 27079 broad.mit.edu 37 15 40861740 40861740 + Silent SNP C T T TCGA-EE-A3AC-06A-11D-A196-08 TCGA-EE-A3AC-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 883d623b-c427-4444-9ee3-66d18648130f f8f00311-8db5-4187-bcb8-5054d9fbdac3 g.chr15:40861740C>T uc001zmd.1 + 0 204 c.204C>T c.(202-204)tcC>tcT p.S68S RPUSD2_uc021sjh.1_Silent_p.S68S NM_152260 NP_689473 Q8IZ73 RUSD2_HUMAN Homo sapiens RNA pseudouridylate synthase domain containing 2 (RPUSD2), mRNA. 68 pseudouridine synthesis RNA binding|protein binding|pseudouridine synthase activity kidney(4)|lung(4)|skin(3) 11 all_cancers(109;2.74e-14)|all_epithelial(112;1.64e-11)|Lung NSC(122;6.69e-09)|all_lung(180;1.22e-07)|Melanoma(134;0.091)|Colorectal(260;0.175)|Ovarian(310;0.243) GBM - Glioblastoma multiforme(113;3.1e-06)|BRCA - Breast invasive adenocarcinoma(123;0.0786) TTGAGCTGTCCCCCGGGCCCC 0.682000 13 11 0 0 0.00136819 0 0 SLC26A11 284129 broad.mit.edu 37 17 78211392 78211392 + Splice_Site SNP C T T TCGA-EE-A3AC-06A-11D-A196-08 TCGA-EE-A3AC-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 883d623b-c427-4444-9ee3-66d18648130f f8f00311-8db5-4187-bcb8-5054d9fbdac3 g.chr17:78211392C>T uc002jyb.2 + 9 1291 c.985_splice c.e9+1 p.A329_splice SLC26A11_uc002jyc.2_Splice_Site_p.A329_splice|SLC26A11_uc002jyd.2_Splice_Site_p.A329_splice|SLC26A11_uc010dhv.2_Splice_Site_p.A329_splice NM_173626 NP_775897 Q86WA9 S2611_HUMAN Homo sapiens solute carrier family 26, member 11 (SLC26A11), transcript variant 2, mRNA. 329 Golgi apparatus|endoplasmic reticulum|integral to membrane|lysosomal membrane|plasma membrane anion:anion antiporter activity|secondary active sulfate transmembrane transporter activity central_nervous_system(1)|endometrium(3)|kidney(4)|large_intestine(6)|lung(7)|ovary(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(1) 28 all_neural(118;0.0538) OV - Ovarian serous cystadenocarcinoma(97;0.0344)|BRCA - Breast invasive adenocarcinoma(99;0.0908) CCAAAGCCTTCGGTAAGACGC 0.607000 23 10 0 0 0.00136819 0 0 IFIT2 3433 broad.mit.edu 37 10 91066303 91066303 + Missense_Mutation SNP C T T TCGA-EE-A3AC-06A-11D-A196-08 TCGA-EE-A3AC-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 883d623b-c427-4444-9ee3-66d18648130f f8f00311-8db5-4187-bcb8-5054d9fbdac3 g.chr10:91066303C>T uc009xts.3 + 1 765 c.590C>T c.(589-591)cCt>cTt p.P197L LIPA_uc001kgb.4_Intron|LIPA_uc001kgc.4_Intron|BC040833_uc001kgd.3_Intron NM_001547 NP_001538 P09913 IFIT2_HUMAN Homo sapiens interferon-induced protein with tetratricopeptide repeats 2 (IFIT2), mRNA. 197 negative regulation of protein binding|response to virus|type I interferon-mediated signaling pathway protein binding endometrium(1)|kidney(2)|large_intestine(5)|lung(2)|ovary(1)|skin(1) 12 Colorectal(252;0.0161) GCCATTGACCCTCTGAGGCAA 0.507000 32 18 0 0 0.000958276 0 0 MYO9A 4649 broad.mit.edu 37 15 72122637 72122637 + Missense_Mutation SNP G A A TCGA-EE-A3AC-06A-11D-A196-08 TCGA-EE-A3AC-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 883d623b-c427-4444-9ee3-66d18648130f f8f00311-8db5-4187-bcb8-5054d9fbdac3 g.chr15:72122637G>A uc002atl.4 - 39 7326 c.6853C>T c.(6853-6855)Cgt>Tgt p.R2285C MYO9A_uc002atk.3_Missense_Mutation_p.R1080C NM_006901 NP_008832 B2RTY4 MYO9A_HUMAN Homo sapiens myosin IXA (MYO9A), mRNA. 2285 Tail. regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction|visual perception cytosol|integral to membrane|unconventional myosin complex ATP binding|GTPase activator activity|actin binding|metal ion binding|motor activity p.R2285C(4) NS(4)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(3)|large_intestine(29)|lung(27)|ovary(1)|pancreas(1)|prostate(5)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(2) 88 TTTCCTCGACGAATACGCCCC 0.443000 18 13 0 0 0.000219431 0 0 ADAMTS20 80070 broad.mit.edu 37 12 43822449 43822449 + Missense_Mutation SNP C T T TCGA-EE-A3AC-06A-11D-A196-08 TCGA-EE-A3AC-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 883d623b-c427-4444-9ee3-66d18648130f f8f00311-8db5-4187-bcb8-5054d9fbdac3 g.chr12:43822449C>T uc010skx.2 - 24 3643 c.3643G>A c.(3643-3645)Gat>Aat p.D1215N ADAMTS20_uc001rno.1_Missense_Mutation_p.D333N|ADAMTS20_uc001rnp.1_Missense_Mutation_p.D369N NM_025003 NP_079279 P59510 ATS20_HUMAN Homo sapiens ADAM metallopeptidase with thrombospondin type 1 motif, 20 (ADAMTS20), mRNA. 1215 TSP type-1 8. 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) GGTGACCAATCCCCTGCTTGC 0.348000 5 5 0 0 0.000602214 0 0 ZNF676 163223 broad.mit.edu 37 19 22364100 22364100 + Missense_Mutation SNP C A A TCGA-EE-A3AC-06A-11D-A196-08 TCGA-EE-A3AC-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 883d623b-c427-4444-9ee3-66d18648130f f8f00311-8db5-4187-bcb8-5054d9fbdac3 g.chr19:22364100C>A uc002nqs.1 - 2 737 c.419G>T c.(418-420)gGt>gTt p.G140V NM_001001411 NP_001001411 Q8N7Q3 ZN676_HUMAN Homo sapiens zinc finger protein 676 (ZNF676), mRNA. 140 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding NS(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(49)|pancreas(1)|prostate(2)|upper_aerodigestive_tract(2) 67 Lung NSC(12;0.0207)|all_lung(12;0.0214)|all_epithelial(12;0.114) ACATTTCAAACCTTTCTCTCC 0.323000 62 24 3.01185e-09 1.38289e-08 0.000586117 1 0 PKHD1L1 93035 broad.mit.edu 37 8 110397851 110397851 + Silent SNP G A A TCGA-EE-A3AC-06A-11D-A196-08 TCGA-EE-A3AC-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 883d623b-c427-4444-9ee3-66d18648130f f8f00311-8db5-4187-bcb8-5054d9fbdac3 g.chr8:110397851G>A uc003yne.3 + 5 665 c.561G>A c.(559-561)agG>agA p.R187R NM_177531 NP_803875 Q86WI1 PKHL1_HUMAN Homo sapiens polycystic kidney and hepatic disease 1 (autosomal recessive)-like 1 (PKHD1L1), mRNA. 187 IPT/TIG 2. 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) AAAATGTTAGGATTTTGAGGT 0.289000 HNSCC(38;0.096) 26 21 0 0 0.00188189 0 0 PDZRN3 23024 broad.mit.edu 37 3 73433158 73433158 + Silent SNP C T T TCGA-EE-A3AC-06A-11D-A196-08 TCGA-EE-A3AC-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 883d623b-c427-4444-9ee3-66d18648130f f8f00311-8db5-4187-bcb8-5054d9fbdac3 g.chr3:73433158C>T uc003dpl.1 - 9 2655 c.2559G>A c.(2557-2559)caG>caA p.Q853Q PDZRN3_uc011bgh.1_Silent_p.Q510Q|PDZRN3_uc010hoe.1_Silent_p.Q551Q|PDZRN3_uc021xaq.1_Silent_p.Q146Q|PDZRN3_uc011bgf.1_Silent_p.Q570Q|PDZRN3_uc011bgg.1_Silent_p.Q573Q NM_015009 NP_055824 Q9UPQ7 PZRN3_HUMAN Homo sapiens PDZ domain containing ring finger 3 (PDZRN3), mRNA. 853 ubiquitin-protein ligase activity|zinc ion binding breast(2)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(13)|lung(31)|ovary(4)|pancreas(2)|prostate(2)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1) 69 Prostate(10;0.114)|Lung NSC(201;0.187)|Lung SC(41;0.236) BRCA - Breast invasive adenocarcinoma(55;0.00041)|Epithelial(33;0.0023)|LUSC - Lung squamous cell carcinoma(21;0.0048)|Lung(16;0.0105)|KIRC - Kidney renal clear cell carcinoma(39;0.111)|Kidney(39;0.134) TGCCCAGCTTCTGGCTGGGCG 0.652000 33 27 0 0 0.000720815 0 0 CNOT7 29883 broad.mit.edu 37 8 17102580 17102580 + Missense_Mutation SNP G A A TCGA-EE-A3AC-06A-11D-A196-08 TCGA-EE-A3AC-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 883d623b-c427-4444-9ee3-66d18648130f f8f00311-8db5-4187-bcb8-5054d9fbdac3 g.chr8:17102580G>A uc003wxf.1 - 1 250 c.82C>T c.(82-84)Cgt>Tgt p.R28C CNOT7_uc003wxg.1_Missense_Mutation_p.R28C|CNOT7_uc003wxh.1_Missense_Mutation_p.R28C|CNOT7_uc003wxi.1_Missense_Mutation_p.R28C|VPS37A_uc003wxj.3_5'Flank|VPS37A_uc003wxk.3_5'Flank NM_013354 NP_037486 Q9UIV1 CNOT7_HUMAN Homo sapiens CCR4-NOT transcription complex, subunit 7 (CNOT7), transcript variant 1, mRNA. 28 carbohydrate metabolic process|nuclear-transcribed mRNA poly(A) tail shortening CCR4-NOT complex|cytoplasmic mRNA processing body|cytosol nucleic acid binding|protein binding|sequence-specific DNA binding transcription factor activity|signal transducer activity p.R28C(2) central_nervous_system(1)|endometrium(1)|large_intestine(3)|lung(6) 11 Colorectal(111;0.0523)|COAD - Colon adenocarcinoma(73;0.209) ATAACTTGACGAATTTTCTTC 0.388000 20 38 0 0 0.00128727 0 0 CYTH4 27128 broad.mit.edu 37 22 37708069 37708069 + Silent SNP G A A TCGA-EE-A3AC-06A-11D-A196-08 TCGA-EE-A3AC-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 883d623b-c427-4444-9ee3-66d18648130f f8f00311-8db5-4187-bcb8-5054d9fbdac3 g.chr22:37708069G>A uc003arf.3 + 11 1082 c.966G>A c.(964-966)ctG>ctA p.L322L CYTH4_uc011amw.2_Silent_p.L265L NM_013385 NP_037517 Q9UIA0 CYH4_HUMAN Homo sapiens cytohesin 4 (CYTH4), mRNA. 322 PH. regulation of ARF protein signal transduction|regulation of cell adhesion cytoplasm|plasma membrane ARF guanyl-nucleotide exchange factor activity breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(7)|ovary(2)|stomach(1) 15 AGTTCTGCCTGGAGCTCTACA 0.632000 28 15 0 0 0.000422831 0 0 KRTAP5-4 387267 broad.mit.edu 37 11 1643030 1643030 + Silent SNP C T T TCGA-EE-A3AC-06A-11D-A196-08 TCGA-EE-A3AC-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 883d623b-c427-4444-9ee3-66d18648130f f8f00311-8db5-4187-bcb8-5054d9fbdac3 g.chr11:1643030C>T uc009ycy.1 - 1 276 c.189G>A c.(187-189)aaG>aaA p.K63K MOB2_uc001ltq.2_Intron NM_001012709 NP_001012727 Q6L8H1 KRA54_HUMAN Homo sapiens keratin associated protein 5-4 (KRTAP5-4), mRNA. 158 9 X 4 AA repeats of C-C-X-P. keratin filament NS(1)|endometrium(9)|kidney(2)|lung(2)|pancreas(1)|prostate(3)|skin(2) 20 all_epithelial(84;0.00819)|Breast(177;0.00832)|Ovarian(85;0.0256)|Medulloblastoma(188;0.0321)|all_neural(188;0.0762) BRCA - Breast invasive adenocarcinoma(625;0.000614)|Lung(200;0.0681)|LUSC - Lung squamous cell carcinoma(625;0.082) CACAGCCCCCCTTGGAACCCC 0.682000 51 8 0 0 0.000274275 0 0 MTA3 57504 broad.mit.edu 37 2 42936176 42936176 + Silent SNP C T T TCGA-EE-A3AC-06A-11D-A196-08 TCGA-EE-A3AC-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 883d623b-c427-4444-9ee3-66d18648130f f8f00311-8db5-4187-bcb8-5054d9fbdac3 g.chr2:42936176C>T uc002rso.1 + 14 1964 c.1294C>T c.(1294-1296)Ctg>Ttg p.L432L MTA3_uc002rsp.1_Silent_p.L432L|MTA3_uc002rsq.3_Silent_p.L489L|MTA3_uc021vgm.1_Silent_p.L177L NM_020744 NP_065795 Q9BTC8 MTA3_HUMAN Homo sapiens metastasis associated 1 family, member 3 (MTA3), mRNA. 489 nucleus sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding endometrium(1)|large_intestine(2)|lung(9)|ovary(2)|stomach(1) 15 TACCCTCCGGCTGCGGCAGGC 0.438000 12 10 0 0 0.000673444 0 0 COL3A1 1281 broad.mit.edu 37 2 189871160 189871160 + Missense_Mutation SNP T G G TCGA-EE-A3AC-06A-11D-A196-08 TCGA-EE-A3AC-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 883d623b-c427-4444-9ee3-66d18648130f f8f00311-8db5-4187-bcb8-5054d9fbdac3 g.chr2:189871160T>G uc002uqj.1 + 42 3300 c.3183T>G c.(3181-3183)agT>agG p.S1061R NM_000090 NP_000081 P02461 CO3A1_HUMAN Homo sapiens collagen, type III, alpha 1 (COL3A1), mRNA. 1061 Triple-helical region. axon guidance|cell-matrix adhesion|collagen biosynthetic process|collagen fibril organization|fibril organization|heart development|integrin-mediated signaling pathway|negative regulation of immune response|peptide cross-linking|platelet activation|response to cytokine stimulus|response to radiation|skin development|transforming growth factor beta receptor signaling pathway collagen type III|extracellular space extracellular matrix structural constituent|integrin binding|platelet-derived growth factor binding NS(2)|breast(1)|central_nervous_system(7)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(17)|lung(60)|ovary(4)|pancreas(1)|prostate(5)|skin(10)|upper_aerodigestive_tract(3)|urinary_tract(3) 126 OV - Ovarian serous cystadenocarcinoma(117;0.0106)|Epithelial(96;0.141) Collagenase(DB00048)|Palifermin(DB00039) CTGGAAAGAGTGGTGACAGAG 0.498000 36 12 0 0 0.00136819 0 0 MS4A3 932 broad.mit.edu 37 11 59828728 59828728 + Missense_Mutation SNP C T T TCGA-EE-A3AC-06A-11D-A196-08 TCGA-EE-A3AC-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 883d623b-c427-4444-9ee3-66d18648130f f8f00311-8db5-4187-bcb8-5054d9fbdac3 g.chr11:59828728C>T uc001nom.3 + 1 223 c.95C>T c.(94-96)tCt>tTt p.S32F MS4A3_uc001non.3_Missense_Mutation_p.S32F|MS4A3_uc001noo.3_Intron NM_006138 NP_006129 Q96HJ5 MS4A3_HUMAN Homo sapiens membrane-spanning 4-domains, subfamily A, member 3 (hematopoietic cell-specific) (MS4A3), transcript variant 1, mRNA. 32 endomembrane system|integral to membrane|perinuclear region of cytoplasm protein binding|receptor activity endometrium(4)|kidney(2)|lung(9)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1) 21 all_epithelial(135;0.245) CTGAATACTTCTGTCTACCAG 0.488000 28 21 0 0 0.00121646 0 0 THBS1 7057 broad.mit.edu 37 15 39886347 39886347 + Silent SNP C T T TCGA-EE-A3AC-06A-11D-A196-08 TCGA-EE-A3AC-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 883d623b-c427-4444-9ee3-66d18648130f f8f00311-8db5-4187-bcb8-5054d9fbdac3 g.chr15:39886347C>T uc001zkh.3 + 19 3494 c.3315C>T c.(3313-3315)ttC>ttT p.F1105F THBS1_uc010bbi.3_Silent_p.F577F NM_003246 NP_003237 P07996 TSP1_HUMAN Homo sapiens thrombospondin 1 (THBS1), mRNA. 1105 TSP C-terminal. activation of MAPK activity|anti-apoptosis|apoptosis|cell adhesion|cell cycle arrest|cell migration|cellular response to heat|chronic inflammatory response|engulfment of apoptotic cell|immune response|induction of apoptosis|negative regulation of angiogenesis|negative regulation of antigen processing and presentation of peptide or polysaccharide antigen via MHC class II|negative regulation of blood vessel endothelial cell migration|negative regulation of cGMP-mediated signaling|negative regulation of caspase activity|negative regulation of dendritic cell antigen processing and presentation|negative regulation of endothelial cell proliferation|negative regulation of fibrinolysis|negative regulation of fibroblast growth factor receptor signaling pathway|negative regulation of focal adhesion assembly|negative regulation of interleukin-12 production|negative regulation of nitric oxide mediated signal transduction|negative regulation of plasma membrane long-chain fatty acid transport|negative regulation of plasminogen activation|peptide cross-linking|platelet activation|platelet degranulation|positive regulation of angiogenesis|positive regulation of blood vessel endothelial cell migration|positive regulation of fibroblast migration|positive regulation of macrophage activation|positive regulation of macrophage chemotaxis|positive regulation of phosphorylation|positive regulation of protein kinase B signaling cascade|positive regulation of reactive oxygen species metabolic process|positive regulation of transforming growth factor beta receptor signaling pathway|positive regulation of transforming growth factor-beta1 production|positive regulation of translation|positive regulation of tumor necrosis factor biosynthetic process|response to calcium ion|response to drug|response to glucose stimulus|response to hypoxia|response to magnesium ion|response to progesterone stimulus|sprouting angiogenesis external side of plasma membrane|extracellular matrix|fibrinogen complex|platelet alpha granule lumen calcium ion binding|collagen V binding|eukaryotic cell surface binding|fibrinogen binding|fibroblast growth factor 2 binding|fibronectin binding|heparin binding|identical protein binding|integrin binding|laminin binding|low-density lipoprotein particle binding|phosphatidylserine binding|proteoglycan binding|structural molecule activity|transforming growth factor beta binding breast(1)|central_nervous_system(3)|endometrium(8)|kidney(5)|large_intestine(15)|lung(9)|ovary(3)|pancreas(1)|prostate(2)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 53 all_cancers(109;1.35e-17)|all_epithelial(112;2.07e-15)|Lung NSC(122;4.44e-11)|all_lung(180;1.11e-09)|Melanoma(134;0.0574)|Colorectal(260;0.117)|Ovarian(310;0.223) GBM - Glioblastoma multiforme(113;2.77e-06)|BRCA - Breast invasive adenocarcinoma(123;0.105) Becaplermin(DB00102) GGAAAGATTTCACCGCCTACA 0.478000 13 11 0 0 0.00185496 0 0 PLEKHG4B 153478 broad.mit.edu 37 5 154998 154998 + Silent SNP C T T TCGA-EE-A3AC-06A-11D-A196-08 TCGA-EE-A3AC-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 883d623b-c427-4444-9ee3-66d18648130f f8f00311-8db5-4187-bcb8-5054d9fbdac3 g.chr5:154998C>T uc003jak.2 + 5 983 c.933C>T c.(931-933)gtC>gtT p.V311V NM_052909 NP_443141 Q96PX9 PKH4B_HUMAN Homo sapiens pleckstrin homology domain containing, family G (with RhoGef domain) member 4B (PLEKHG4B), mRNA. 311 regulation of Rho protein signal transduction intracellular Rho guanyl-nucleotide exchange factor activity endometrium(1)|large_intestine(2)|lung(2)|prostate(3)|skin(3) 11 all cancers(22;0.0253)|Lung(60;0.113) Kidney(1;0.119) AGTGTGAGGTCGTGAGCTCCC 0.557000 37 23 0 0 0.000586117 0 0 SLC14A2 8170 broad.mit.edu 37 18 43246970 43246970 + Missense_Mutation SNP G A A TCGA-EE-A3AC-06A-11D-A196-08 TCGA-EE-A3AC-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 883d623b-c427-4444-9ee3-66d18648130f f8f00311-8db5-4187-bcb8-5054d9fbdac3 g.chr18:43246970G>A uc002lbe.3 + 12 2444 c.1628G>A c.(1627-1629)cGg>cAg p.R543Q SLC14A2_uc010dnj.3_Missense_Mutation_p.R543Q NM_007163 NP_009094 Q15849 UT2_HUMAN Homo sapiens solute carrier family 14 (urea transporter), member 2 (SLC14A2), transcript variant 1, mRNA. 543 apical plasma membrane|integral to membrane|membrane fraction protein binding|urea transmembrane transporter activity NS(1)|central_nervous_system(1)|endometrium(5)|kidney(4)|large_intestine(8)|lung(35)|ovary(1)|prostate(1)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 63 TCCTGGATTCGGAGTTCCATG 0.483000 32 25 0 0 0.00047179 0 0 TCRA 0 broad.mit.edu 37 14 22315112 22315112 + Missense_Mutation SNP G A A TCGA-EE-A3AC-06A-11D-A196-08 TCGA-EE-A3AC-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 883d623b-c427-4444-9ee3-66d18648130f f8f00311-8db5-4187-bcb8-5054d9fbdac3 g.chr14:22315112G>A uc001wbz.1 + 1 275 c.50G>A c.(49-51)gGa>gAa p.G17E TRA_uc021rpa.1_Intron|TCRA_uc001wbw.2_Intron|TCRA_uc021rpe.1_Non-coding_Transcript|TCRA_uc010ait.1_Intron Homo sapiens mRNA for T cell receptor alpha variable 8, partial cds, clone: un 132. GTTGCAGGAGGAACCAGAGCC 0.498000 OREG0022570 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 23 7 0 0 0.000442599 0 0 HRH2 3274 broad.mit.edu 37 5 175110262 175110262 + Missense_Mutation SNP C T T TCGA-EE-A3AC-06A-11D-A196-08 TCGA-EE-A3AC-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 883d623b-c427-4444-9ee3-66d18648130f f8f00311-8db5-4187-bcb8-5054d9fbdac3 g.chr5:175110262C>T uc003mdc.4 + 1 670 c.26C>T c.(25-27)tCc>tTc p.S9F HRH2_uc003mdd.2_Missense_Mutation_p.S9F NM_001131055 NP_001124527 P25021 HRH2_HUMAN Homo sapiens histamine receptor H2 (HRH2), transcript variant 1, mRNA. 9 G-protein signaling, coupled to cyclic nucleotide second messenger|immune response integral to plasma membrane histamine receptor activity breast(1)|cervix(1)|endometrium(3)|large_intestine(6)|lung(10)|ovary(1) 22 all_cancers(89;0.00805)|Renal(175;0.000269)|Lung NSC(126;0.00419)|all_lung(126;0.00711) Medulloblastoma(196;0.0208)|all_neural(177;0.0277)|all_hematologic(541;0.214) Kidney(164;3.85e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000183) Colorectal(1;0.0154)|COAD - Colon adenocarcinoma(1;0.149) Betazole(DB00272)|Cimetidine(DB00501)|Doxepin(DB01142)|Epinastine(DB00751)|Famotidine(DB00927)|Histamine Phosphate(DB00667)|Nizatidine(DB00585)|Ranitidine(DB00863) ACAGCCTCTTCCTTTTGCCTG 0.572000 106 61 0 0 0.000781405 0 0 DLEC1 9940 broad.mit.edu 37 3 38138118 38138118 + Missense_Mutation SNP G A A TCGA-EE-A3AC-06A-11D-A196-08 TCGA-EE-A3AC-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 883d623b-c427-4444-9ee3-66d18648130f f8f00311-8db5-4187-bcb8-5054d9fbdac3 g.chr3:38138118G>A uc003chp.1 + 14 2251 c.2230G>A c.(2230-2232)Gaa>Aaa p.E744K DLEC1_uc003cho.1_Missense_Mutation_p.E744K|DLEC1_uc010hgv.1_Missense_Mutation_p.E744K|DLEC1_uc003chr.1_5'UTR|DLEC1_uc010hgx.1_Non-coding_Transcript NM_007337 NP_031363 Q9Y238 DLEC1_HUMAN Homo sapiens deleted in lung and esophageal cancer 1 (DLEC1), transcript variant DLEC1-S3, mRNA. 744 negative regulation of cell proliferation cytoplasm NS(1)|breast(3)|central_nervous_system(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(9)|lung(14)|ovary(3)|pancreas(3)|prostate(1)|skin(5)|upper_aerodigestive_tract(2) 51 KIRC - Kidney renal clear cell carcinoma(284;0.0664)|Kidney(284;0.0827) GATTGTCCTGGAAATCGAGGT 0.507000 62 55 0 0 0.000781405 0 0 ZNF229 7772 broad.mit.edu 37 19 44933997 44933997 + Missense_Mutation SNP G A A TCGA-EE-A3AC-06A-11D-A196-08 TCGA-EE-A3AC-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 883d623b-c427-4444-9ee3-66d18648130f f8f00311-8db5-4187-bcb8-5054d9fbdac3 g.chr19:44933997G>A uc002oze.1 - 5 1393 c.959C>T c.(958-960)tCt>tTt p.S320F ZNF229_uc010ejk.1_5'UTR|ZNF229_uc010ejl.1_Missense_Mutation_p.S314F NM_014518 NP_055333 Q9UJW7 ZN229_HUMAN Homo sapiens zinc finger protein 229 (ZNF229), mRNA. 320 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding breast(5)|central_nervous_system(2)|endometrium(6)|large_intestine(3)|lung(18)|ovary(1)|pancreas(1)|prostate(1)|skin(5)|stomach(2)|upper_aerodigestive_tract(1) 45 Prostate(69;0.0352) ACTCTTAACAGATTTCTCTCC 0.493000 17 9 0 0 0.000274275 0 0 HSD3B2 3284 broad.mit.edu 37 1 119962127 119962127 + Missense_Mutation SNP G A A TCGA-EE-A3AC-06A-11D-A196-08 TCGA-EE-A3AC-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 883d623b-c427-4444-9ee3-66d18648130f f8f00311-8db5-4187-bcb8-5054d9fbdac3 g.chr1:119962127G>A uc001ehs.3 + 1 1002 c.229G>A c.(229-231)Gtc>Atc p.V77I HSD3B2_uc021ost.1_Missense_Mutation_p.V77I|HSD3B2_uc001eht.3_Missense_Mutation_p.V77I|HSD3B2_uc001ehu.3_Missense_Mutation_p.V77I NM_001166120 NP_001159592 P26439 3BHS2_HUMAN Homo sapiens hydroxy-delta-5-steroid dehydrogenase, 3 beta- and steroid delta-isomerase 2 (HSD3B2), transcript variant 2, mRNA. 77 androgen biosynthetic process|glucocorticoid biosynthetic process|mineralocorticoid biosynthetic process integral to membrane|microsome|mitochondrial inner membrane|mitochondrial intermembrane space|smooth endoplasmic reticulum membrane 3-beta-hydroxy-delta5-steroid dehydrogenase activity|binding|steroid delta-isomerase activity p.S76L(1) breast(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(19)|ovary(2)|skin(1) 27 all_neural(166;0.187) all_lung(203;1.06e-06)|Lung NSC(69;7.5e-06)|all_epithelial(167;0.000284) Lung(183;0.015)|LUSC - Lung squamous cell carcinoma(189;0.0836) NADH(DB00157)|Trilostane(DB01108) GGACGTCTCGGTCGTCATCCA 0.502000 22 11 0 0 0.000219431 0 0 KIAA0319 9856 broad.mit.edu 37 6 24576703 24576704 + Missense_Mutation DNP GG TT TT TCGA-EE-A3AC-06A-11D-A196-08 TCGA-EE-A3AC-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 883d623b-c427-4444-9ee3-66d18648130f f8f00311-8db5-4187-bcb8-5054d9fbdac3 g.chr6:24576703_24576704GG>TT uc011djo.2 - 9 2126_2127 c.1626_1627CC>AA c.(1624-1629)ccccaa>ccAAaa p.Q543K KIAA0319_uc011djp.2_Missense_Mutation_p.Q498K|KIAA0319_uc003neh.1_Missense_Mutation_p.Q543K|KIAA0319_uc011djq.1_Missense_Mutation_p.Q534K|KIAA0319_uc011djr.1_Missense_Mutation_p.Q543K|KIAA0319_uc010jpt.1_5'UTR NM_001168375 NP_001161848 Q5VV43 K0319_HUMAN Homo sapiens KIAA0319 (KIAA0319), transcript variant 2, mRNA. 543 PKD 3. negative regulation of dendrite development|neuron migration early endosome membrane|integral to membrane|plasma membrane protein binding p.Q543K(2) breast(3)|endometrium(6)|kidney(3)|large_intestine(11)|lung(19)|ovary(1)|prostate(3)|skin(6)|upper_aerodigestive_tract(1) 53 ATGGAGTTTTGGGGCAAAGTTA 0.495000 293 12 0 0 6.4e-05 0 0 VSTM4 196740 broad.mit.edu 37 10 50315776 50315776 + Missense_Mutation SNP C T T TCGA-EE-A3AC-06A-11D-A196-08 TCGA-EE-A3AC-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 883d623b-c427-4444-9ee3-66d18648130f f8f00311-8db5-4187-bcb8-5054d9fbdac3 g.chr10:50315776C>T uc001jhf.2 - 1 349 c.320G>A c.(319-321)gGg>gAg p.G107E VSTM4_uc001jhh.2_Missense_Mutation_p.G107E NM_001031746 NP_001026916 Q8IW00 CJ072_HUMAN Homo sapiens V-set and transmembrane domain containing 4 (VSTM4), transcript variant 1, mRNA. 107 Ig-like. integral to membrane|plasma membrane p.R106W(1) breast(1)|endometrium(3)|kidney(1)|large_intestine(9)|liver(1)|lung(14)|skin(2) 31 GTAGAGCGCCCCCCGCTGCTC 0.602000 46 35 0 0 0.000953801 0 0 ACAP3 116983 broad.mit.edu 37 1 1236057 1236057 + Silent SNP G A A TCGA-EE-A3AC-06A-11D-A196-08 TCGA-EE-A3AC-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 883d623b-c427-4444-9ee3-66d18648130f f8f00311-8db5-4187-bcb8-5054d9fbdac3 g.chr1:1236057G>A uc001aeb.2 - 5 428 c.354C>T c.(352-354)ttC>ttT p.F118F ACAP3_uc001ady.2_5'Flank|ACAP3_uc001aea.2_Silent_p.F76F|ACAP3_uc001aec.1_Silent_p.F76F NM_030649 NP_085152 Q96P50 ACAP3_HUMAN Homo sapiens ArfGAP with coiled-coil, ankyrin repeat and PH domains 3 (ACAP3), mRNA. 118 filopodium assembly|regulation of ARF GTPase activity|signal transduction ARF GTPase activator activity|SH3 domain binding|cytoskeletal adaptor activity|zinc ion binding endometrium(3)|lung(9)|skin(1)|upper_aerodigestive_tract(1) 14 TTGTCTCCTTGAACTTCCGCA 0.617000 31 20 0 0 0.000375601 0 0 AGBL1 123624 broad.mit.edu 37 15 86807958 86807958 + Missense_Mutation SNP G A A TCGA-EE-A3AC-06A-11D-A196-08 TCGA-EE-A3AC-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 883d623b-c427-4444-9ee3-66d18648130f f8f00311-8db5-4187-bcb8-5054d9fbdac3 g.chr15:86807958G>A uc002blz.1 + 9 1498 c.1418G>A c.(1417-1419)aGa>aAa p.R473K AGBL1_uc002bma.1_Missense_Mutation_p.R204K|AGBL1_uc002bmb.1_Missense_Mutation_p.R167K NM_152336 NP_689549 Q96MI9 CBPC4_HUMAN Homo sapiens ATP/GTP binding protein-like 1 (AGBL1), mRNA. 473 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 GCCAAAGCCAGAAGAACCAGC 0.478000 50 48 0 0 0.000781405 0 0 HTR1E 3354 broad.mit.edu 37 6 87725508 87725508 + Silent SNP C T T TCGA-EE-A3AC-06A-11D-A196-08 TCGA-EE-A3AC-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 883d623b-c427-4444-9ee3-66d18648130f f8f00311-8db5-4187-bcb8-5054d9fbdac3 g.chr6:87725508C>T uc003pli.3 + 1 1159 c.456C>T c.(454-456)ttC>ttT p.F152F HTR1E_uc021zcg.1_Silent_p.F152F NM_000865 NP_000856 P28566 5HT1E_HUMAN Homo sapiens 5-hydroxytryptamine (serotonin) receptor 1E (HTR1E), mRNA. 152 G-protein signaling, coupled to cyclic nucleotide second messenger|synaptic transmission integral to plasma membrane protein binding|serotonin binding|serotonin receptor activity breast(3)|endometrium(2)|kidney(3)|large_intestine(11)|lung(15)|ovary(2)|prostate(2)|skin(3) 41 all_cancers(76;7.11e-06)|Acute lymphoblastic leukemia(125;1.2e-09)|Prostate(29;3.51e-09)|all_hematologic(105;7.43e-06)|all_epithelial(107;0.00819) BRCA - Breast invasive adenocarcinoma(108;0.055) Eletriptan(DB00216) TCTCCATTTTCATCTCCATGC 0.552000 11 26 0 0 0.00106085 0 0 SULF1 23213 broad.mit.edu 37 8 70488375 70488375 + Missense_Mutation SNP C T T TCGA-EE-A3AC-06A-11D-A196-08 TCGA-EE-A3AC-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 883d623b-c427-4444-9ee3-66d18648130f f8f00311-8db5-4187-bcb8-5054d9fbdac3 g.chr8:70488375C>T uc003xyg.2 + 4 904 c.343C>T c.(343-345)Ccc>Tcc p.P115S SULF1_uc010lza.1_Missense_Mutation_p.P115S|SULF1_uc003xyd.2_Missense_Mutation_p.P115S|SULF1_uc003xye.2_Missense_Mutation_p.P115S|SULF1_uc003xyf.2_Missense_Mutation_p.P115S NM_001128206 NP_055985 Q8IWU6 SULF1_HUMAN Homo sapiens sulfatase 1 (SULF1), transcript variant 2, mRNA. 115 apoptosis|bone development|heparan sulfate proteoglycan metabolic process|kidney development|negative regulation of fibroblast growth factor receptor signaling pathway Golgi stack|cell surface|endoplasmic reticulum|extracellular space arylsulfatase activity|calcium ion binding breast(2)|central_nervous_system(3)|endometrium(5)|kidney(3)|large_intestine(10)|lung(15)|ovary(3)|pancreas(2)|prostate(2)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(1) 52 Breast(64;0.0654) Epithelial(68;0.0124)|OV - Ovarian serous cystadenocarcinoma(28;0.0265)|all cancers(69;0.0534) CTGCTCTTCCCCCTCGTGGCA 0.517000 33 25 0 0 0.00047179 0 0 GRM3 2913 broad.mit.edu 37 7 86468384 86468384 + Missense_Mutation SNP G A A TCGA-EE-A3AC-06A-11D-A196-08 TCGA-EE-A3AC-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 883d623b-c427-4444-9ee3-66d18648130f f8f00311-8db5-4187-bcb8-5054d9fbdac3 g.chr7:86468384G>A uc003uid.3 + 3 2653 c.1554G>A c.(1552-1554)atG>atA p.M518I GRM3_uc010lef.3_Intron|GRM3_uc010leg.3_Missense_Mutation_p.M390I|GRM3_uc010leh.3_Missense_Mutation_p.M110I NM_000840 NP_000831 Q14832 GRM3_HUMAN Homo sapiens glutamate receptor, metabotropic 3 (GRM3), mRNA. 518 synaptic transmission integral to plasma membrane p.M518I(2)|p.E517K(1) NS(2)|breast(6)|central_nervous_system(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(9)|lung(43)|ovary(3)|pancreas(2)|prostate(4)|skin(25)|upper_aerodigestive_tract(5) 109 Esophageal squamous(14;0.0058)|all_lung(186;0.132)|Lung NSC(181;0.142) Acamprosate(DB00659)|Nicotine(DB00184) CCAATGAAATGAAGAATATGC 0.522000 20 19 0 0 0.00121646 0 0 NLRP3 114548 broad.mit.edu 37 1 247607377 247607377 + Missense_Mutation SNP G A A TCGA-EE-A3AC-06A-11D-A196-08 TCGA-EE-A3AC-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 883d623b-c427-4444-9ee3-66d18648130f f8f00311-8db5-4187-bcb8-5054d9fbdac3 g.chr1:247607377G>A uc001icr.3 + 8 2911 c.2773G>A c.(2773-2775)Gga>Aga p.G925R NLRP3_uc001ics.3_Missense_Mutation_p.G868R|NLRP3_uc001icu.3_Missense_Mutation_p.G925R|NLRP3_uc001icw.3_Missense_Mutation_p.G868R|NLRP3_uc001icv.3_Missense_Mutation_p.G811R|NLRP3_uc010pyw.2_Missense_Mutation_p.G903R NM_001079821 NP_001230062 Q96P20 NALP3_HUMAN Homo sapiens NLR family, pyrin domain containing 3 (NLRP3), transcript variant 3, mRNA. 925 detection of biotic stimulus|induction of apoptosis|inflammatory response|negative regulation of NF-kappaB import into nucleus|negative regulation of NF-kappaB transcription factor activity|positive regulation of interleukin-1 beta secretion|protein oligomerization|signal transduction cytoplasm ATP binding|peptidoglycan binding|protein binding p.G925*(2) NS(1)|breast(3)|endometrium(6)|kidney(1)|large_intestine(19)|lung(85)|ovary(9)|pancreas(2)|prostate(4)|skin(8)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 142 all_cancers(71;9.66e-05)|all_epithelial(71;1.85e-05)|Breast(184;0.0226)|Ovarian(71;0.0377)|all_lung(81;0.0662)|Lung NSC(105;0.0724) all_cancers(173;0.0172) OV - Ovarian serous cystadenocarcinoma(106;0.0141) CAACACTCTCGGAGACAAGGG 0.493000 55 24 0 0 0.00106085 0 0 TIE1 7075 broad.mit.edu 37 1 43783308 43783308 + Silent SNP C A A TCGA-EE-A3AC-06A-11D-A196-08 TCGA-EE-A3AC-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 883d623b-c427-4444-9ee3-66d18648130f f8f00311-8db5-4187-bcb8-5054d9fbdac3 g.chr1:43783308C>A uc001ciu.3 + 15 2871 c.2694C>A c.(2692-2694)ccC>ccA p.P898P TIE1_uc010oke.2_Silent_p.P853P|TIE1_uc009vwq.3_Silent_p.P854P|TIE1_uc010okg.2_Silent_p.P543P NM_005424 NP_005415 P35590 TIE1_HUMAN Homo sapiens tyrosine kinase with immunoglobulin-like and EGF-like domains 1 (TIE1), transcript variant 1, mRNA. 898 Protein kinase. mesoderm development integral to plasma membrane ATP binding|protein binding|transmembrane receptor protein tyrosine kinase activity breast(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(8)|lung(28)|ovary(3)|prostate(2)|salivary_gland(1)|skin(10)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(4) 70 Acute lymphoblastic leukemia(166;0.155) Myeloproliferative disorder(586;0.0505) GGCATCACCCCAACATCATCA 0.507000 126 7 5.18039e-06 2.37174e-05 0.000157383 1 0 KIF13A 63971 broad.mit.edu 37 6 17817388 17817388 + Silent SNP C G G TCGA-EE-A3AC-06A-11D-A196-08 TCGA-EE-A3AC-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 883d623b-c427-4444-9ee3-66d18648130f f8f00311-8db5-4187-bcb8-5054d9fbdac3 g.chr6:17817388C>G uc003ncg.4 - 16 2023 c.1863G>C c.(1861-1863)cgG>cgC p.R621R KIF13A_uc003ncf.3_Silent_p.R621R|KIF13A_uc003nch.4_Silent_p.R621R|KIF13A_uc003nci.4_Silent_p.R621R|KIF13A_uc003ncj.3_Silent_p.R297R NM_022113 NP_071396 Q9H1H9 KI13A_HUMAN Homo sapiens kinesin family member 13A (KIF13A), transcript variant 1, mRNA. 621 Golgi to plasma membrane protein transport|cargo loading into vesicle|cell cycle|cytokinesis|endosome to lysosome transport|melanosome organization|plus-end-directed vesicle transport along microtubule centrosome|endosome membrane|microtubule|midbody|trans-Golgi network membrane ATP binding|microtubule motor activity|protein binding breast(3)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(19)|lung(16)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2) 64 Breast(50;0.0107)|Ovarian(93;0.016) all_hematologic(90;0.125) all cancers(50;0.0865)|Epithelial(50;0.0974) CATACATGAGCCGCTGCTCCT 0.567000 51 31 0 0 0.000491102 0 0 IL1R2 7850 broad.mit.edu 37 2 102644761 102644761 + Nonsense_Mutation SNP G A A TCGA-EE-A3AC-06A-11D-A196-08 TCGA-EE-A3AC-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 883d623b-c427-4444-9ee3-66d18648130f f8f00311-8db5-4187-bcb8-5054d9fbdac3 g.chr2:102644761G>A uc002tbm.3 + 8 1333 c.1104G>A c.(1102-1104)tgG>tgA p.W368* IL1R2_uc002tbn.3_Nonsense_Mutation_p.W368* NM_004633 NP_775465 P27930 IL1R2_HUMAN Homo sapiens interleukin 1 receptor, type II (IL1R2), transcript variant 1, mRNA. 368 immune response integral to membrane|plasma membrane interleukin-1, Type II, blocking receptor activity breast(3)|endometrium(1)|kidney(1)|large_intestine(8)|lung(13)|ovary(1)|skin(1) 28 Anakinra(DB00026) GGGGAATATGGATGCACAGAC 0.498000 34 30 0 0 0.0024448 0 0 FAM5C 339479 broad.mit.edu 37 1 190424010 190424010 + Missense_Mutation SNP C T T TCGA-EE-A3AC-06A-11D-A196-08 TCGA-EE-A3AC-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 883d623b-c427-4444-9ee3-66d18648130f f8f00311-8db5-4187-bcb8-5054d9fbdac3 g.chr1:190424010C>T uc001gse.1 - 1 243 c.11G>A c.(10-12)cGa>cAa p.R4Q FAM5C_uc010pot.1_5'UTR NM_199051 NP_950252 Q76B58 FAM5C_HUMAN Homo sapiens family with sequence similarity 5, member C (FAM5C), mRNA. 4 extracellular region NS(1)|breast(5)|endometrium(8)|haematopoietic_and_lymphoid_tissue(6)|kidney(8)|large_intestine(18)|lung(98)|ovary(3)|prostate(3)|skin(5)|upper_aerodigestive_tract(7)|urinary_tract(2) 164 Prostate(682;0.198) AGCTCTGCTTCGCCATATCAT 0.463000 10 21 0 0 0.00229938 0 0 CYP4B1 1580 broad.mit.edu 37 1 47283637 47283637 + Splice_Site SNP G A A TCGA-EE-A3AC-06A-11D-A196-08 TCGA-EE-A3AC-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 883d623b-c427-4444-9ee3-66d18648130f f8f00311-8db5-4187-bcb8-5054d9fbdac3 g.chr1:47283637G>A uc001cqn.4 + 10 1292 c.1208_splice c.e10-1 p.G403_splice CYP4B1_uc001cqm.4_Splice_Site_p.G402_splice|CYP4B1_uc009vym.3_Splice_Site_p.G388_splice|CYP4B1_uc010omk.2_Splice_Site_p.G239_splice NM_001099772 NP_001093242 P13584 CP4B1_HUMAN Homo sapiens cytochrome P450, family 4, subfamily B, polypeptide 1 (CYP4B1), transcript variant 1, mRNA. 402 xenobiotic metabolic process endoplasmic reticulum membrane|microsome aromatase activity|electron carrier activity|heme binding|oxygen binding NS(2)|breast(1)|endometrium(2)|kidney(1)|large_intestine(12)|lung(9)|ovary(1)|pancreas(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(2) 36 Acute lymphoblastic leukemia(166;0.155) CTGCCCACAGGAAGCCTGATC 0.572000 74 31 0 0 0.00111076 0 0 PHF7 51533 broad.mit.edu 37 3 52456886 52456886 + Missense_Mutation SNP C T T TCGA-EE-A3AC-06A-11D-A196-08 TCGA-EE-A3AC-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 883d623b-c427-4444-9ee3-66d18648130f f8f00311-8db5-4187-bcb8-5054d9fbdac3 g.chr3:52456886C>T uc003ddy.3 + 9 1714 c.908C>T c.(907-909)gCt>gTt p.A303V PHF7_uc003ddz.3_Missense_Mutation_p.A264V NM_016483 NP_057567 Q9BWX1 PHF7_HUMAN Homo sapiens PHD finger protein 7 (PHF7), transcript variant 1, mRNA. 303 nucleus zinc ion binding breast(2)|large_intestine(4)|lung(3) 9 BRCA - Breast invasive adenocarcinoma(193;1.71e-05)|Kidney(197;0.00178)|KIRC - Kidney renal clear cell carcinoma(197;0.00201)|OV - Ovarian serous cystadenocarcinoma(275;0.0275) TGTTCACCTGCTGCAGCCACA 0.577000 67 40 0 0 0.00170553 0 0 MYOM2 9172 broad.mit.edu 37 8 2021490 2021490 + Missense_Mutation SNP C T T TCGA-EE-A3AC-06A-11D-A196-08 TCGA-EE-A3AC-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 883d623b-c427-4444-9ee3-66d18648130f f8f00311-8db5-4187-bcb8-5054d9fbdac3 g.chr8:2021490C>T uc003wpx.4 + 9 1168 c.1030C>T c.(1030-1032)Cac>Tac p.H344Y MYOM2_uc011kwi.2_Intron NM_003970 NP_003961 P54296 MYOM2_HUMAN Homo sapiens myomesin (M-protein) 2, 165kDa (MYOM2), mRNA. 344 Ig-like C2-type 2. muscle contraction myosin filament structural constituent of muscle autonomic_ganglia(2)|breast(4)|central_nervous_system(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(11)|kidney(2)|large_intestine(17)|lung(39)|ovary(5)|prostate(1)|skin(10)|upper_aerodigestive_tract(3) 104 Ovarian(12;0.0572)|Colorectal(14;0.0844)|Hepatocellular(245;0.217) BRCA - Breast invasive adenocarcinoma(11;1.85e-05)|Colorectal(4;0.0101)|READ - Rectum adenocarcinoma(4;0.148)|COAD - Colon adenocarcinoma(4;0.179) GTCCTTCAGCCACCTGCACAA 0.592000 13 26 0 0 0.000878237 0 0 C5orf25 375484 broad.mit.edu 37 5 175772292 175772292 + Silent SNP G A A TCGA-EE-A3AC-06A-11D-A196-08 TCGA-EE-A3AC-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 883d623b-c427-4444-9ee3-66d18648130f f8f00311-8db5-4187-bcb8-5054d9fbdac3 g.chr5:175772292G>A uc003mds.4 + 11 2870 c.2463G>A c.(2461-2463)caG>caA p.Q821Q C5orf25_uc003mdr.3_Non-coding_Transcript|C5orf25_uc003mdt.4_Silent_p.Q406Q|C5orf25_uc003mdv.3_Silent_p.Q282Q Q8NDZ2 CE025_HUMAN Homo sapiens chromosome 5 open reading frame 25 (C5orf25), mRNA. 821 all_cancers(89;0.00381)|Renal(175;0.000269)|Lung NSC(126;0.0122)|all_lung(126;0.0193) Medulloblastoma(196;0.0208)|all_neural(177;0.0416)|all_hematologic(541;0.214) Kidney(164;3.85e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178) Kidney(146;0.119) TAGAGAAGCAGATTGAGGCCT 0.507000 42 21 0 0 0.00152264 0 0 YEATS2 55689 broad.mit.edu 37 3 183515738 183515738 + Missense_Mutation SNP C T T TCGA-EE-A3AC-06A-11D-A196-08 TCGA-EE-A3AC-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 883d623b-c427-4444-9ee3-66d18648130f f8f00311-8db5-4187-bcb8-5054d9fbdac3 g.chr3:183515738C>T uc003fly.2 + 21 3320 c.3125C>T c.(3124-3126)tCc>tTc p.S1042F NM_018023 NP_060493 Q9ULM3 YETS2_HUMAN Homo sapiens YEATS domain containing 2 (YEATS2), mRNA. 1042 histone H3 acetylation|negative regulation of transcription from RNA polymerase II promoter Ada2/Gcn5/Ada3 transcription activator complex TBP-class protein binding NS(1)|breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(24)|ovary(3)|prostate(2)|skin(3) 49 all_cancers(143;6.55e-10)|Ovarian(172;0.0303) all cancers(12;2.38e-42)|Epithelial(37;1.9e-36)|OV - Ovarian serous cystadenocarcinoma(80;6.48e-22) TCCAGTCAGTCCAGTCCGCAG 0.498000 24 13 0 0 0.00185496 0 0 HRNR 388697 broad.mit.edu 37 1 152187528 152187528 + Missense_Mutation SNP C T T TCGA-EE-A3AC-06A-11D-A196-08 TCGA-EE-A3AC-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 883d623b-c427-4444-9ee3-66d18648130f f8f00311-8db5-4187-bcb8-5054d9fbdac3 g.chr1:152187528C>T uc001ezt.1 - 2 6653 c.6577G>A c.(6577-6579)Ggg>Agg p.G2193R NM_001009931 NP_001009931 Q86YZ3 HORN_HUMAN Homo sapiens hornerin (HRNR), mRNA. 2193 keratinization calcium ion binding|protein binding autonomic_ganglia(1)|breast(6)|central_nervous_system(2)|cervix(2)|endometrium(22)|haematopoietic_and_lymphoid_tissue(1)|kidney(11)|large_intestine(19)|liver(1)|lung(84)|ovary(5)|prostate(6)|skin(12)|stomach(9)|upper_aerodigestive_tract(5)|urinary_tract(6) 192 Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127) LUSC - Lung squamous cell carcinoma(543;0.206) GAGGAGTGCCCCGAACCGGAC 0.637000 271 28 0 0 0.000491102 0 0 HERC1 8925 broad.mit.edu 37 15 63920935 63920935 + Nonsense_Mutation SNP G T T TCGA-EE-A3AC-06A-11D-A196-08 TCGA-EE-A3AC-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 883d623b-c427-4444-9ee3-66d18648130f f8f00311-8db5-4187-bcb8-5054d9fbdac3 g.chr15:63920935G>T uc002amp.3 - 69 13194 c.13046C>A c.(13045-13047)tCg>tAg p.S4349* NM_003922 NP_003913 Q15751 HERC1_HUMAN Homo sapiens hect (homologous to the E6-AP (UBE3A) carboxyl terminus) domain and RCC1 (CHC1)-like domain (RLD) 1 (HERC1), mRNA. 4349 protein modification process|transport Golgi apparatus|cytosol|membrane ARF guanyl-nucleotide exchange factor activity|acid-amino acid ligase activity NS(3)|breast(9)|central_nervous_system(4)|endometrium(23)|haematopoietic_and_lymphoid_tissue(1)|kidney(12)|large_intestine(22)|liver(1)|lung(36)|ovary(7)|prostate(4)|skin(3)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(2) 132 GCGGCCAGCCGAGATCTGCCG 0.507000 63 6 0.00116845 0.00528496 0.00116845 1 0 MANSC1 54682 broad.mit.edu 37 12 12496028 12496028 + Missense_Mutation SNP G A A TCGA-EE-A3AC-06A-11D-A196-08 TCGA-EE-A3AC-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 883d623b-c427-4444-9ee3-66d18648130f f8f00311-8db5-4187-bcb8-5054d9fbdac3 g.chr12:12496028G>A uc001rai.1 - 1 479 c.221C>T c.(220-222)tCa>tTa p.S74L MANSC1_uc001raj.1_Missense_Mutation_p.S40L NM_018050 NP_060520 Q9H8J5 MANS1_HUMAN Homo sapiens MANSC domain containing 1 (MANSC1), mRNA. 74 MANSC. integral to membrane breast(2)|endometrium(1)|kidney(2)|large_intestine(4)|lung(9)|skin(1)|stomach(4) 23 Prostate(47;0.0865) BRCA - Breast invasive adenocarcinoma(232;0.185) CTATTTACCTGATATGTTTTT 0.408000 56 24 0 0 0.00047179 0 0 EPHA10 284656 broad.mit.edu 37 1 38187513 38187513 + Silent SNP C T T TCGA-EE-A3AC-06A-11D-A196-08 TCGA-EE-A3AC-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 883d623b-c427-4444-9ee3-66d18648130f f8f00311-8db5-4187-bcb8-5054d9fbdac3 g.chr1:38187513C>T uc009vvi.3 - 10 2051 c.1965G>A c.(1963-1965)cgG>cgA p.R655R EPHA10_uc001cbt.3_5'Flank|EPHA10_uc009vvh.2_Non-coding_Transcript|EPHA10_uc001cbu.3_Non-coding_Transcript|EPHA10_uc001cbv.2_Non-coding_Transcript NM_001099439 NP_001092909 Q5JZY3 EPHAA_HUMAN Homo sapiens EPH receptor A10 (EPHA10), transcript variant 3, mRNA. 655 Protein kinase. extracellular region|integral to membrane|integral to plasma membrane ATP binding|ephrin receptor activity|protein binding|transmembrane-ephrin receptor activity NS(2)|breast(4)|cervix(1)|endometrium(5)|kidney(4)|large_intestine(4)|lung(13)|prostate(3)|skin(8)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(2) 50 Acute lymphoblastic leukemia(166;0.074)|all_hematologic(146;0.197) Myeloproliferative disorder(586;0.0255)|all_neural(195;0.164) GCTCCCCAAACCGCCCTGTGG 0.652000 8 3 0 0 0.00024832 0 0 GEMIN5 25929 broad.mit.edu 37 5 154316593 154316593 + Missense_Mutation SNP G C C TCGA-EE-A3AC-06A-11D-A196-08 TCGA-EE-A3AC-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 883d623b-c427-4444-9ee3-66d18648130f f8f00311-8db5-4187-bcb8-5054d9fbdac3 g.chr5:154316593G>C uc003lvx.3 - 1 402 c.319C>G c.(319-321)Ctc>Gtc p.L107V GEMIN5_uc011ddk.1_Missense_Mutation_p.L107V NM_015465 NP_056280 Q8TEQ6 GEMI5_HUMAN Homo sapiens gem (nuclear organelle) associated protein 5 (GEMIN5), transcript variant 1, mRNA. 107 ncRNA metabolic process|protein complex assembly|spliceosomal snRNP assembly Cajal body|cytosol|spliceosomal complex protein binding|snRNA binding breast(1)|central_nervous_system(2)|endometrium(5)|kidney(3)|large_intestine(10)|lung(10)|ovary(1)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1) 38 Renal(175;0.00488) Medulloblastoma(196;0.0354)|all_neural(177;0.147) KIRC - Kidney renal clear cell carcinoma(527;0.00112) ACCTGATGGAGTGCATGTTCT 0.463000 85 39 0 0 0.00195071 0 0 JMJD1C 221037 broad.mit.edu 37 10 64974730 64974730 + Missense_Mutation SNP A T T TCGA-EE-A3AC-06A-11D-A196-08 TCGA-EE-A3AC-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 883d623b-c427-4444-9ee3-66d18648130f f8f00311-8db5-4187-bcb8-5054d9fbdac3 g.chr10:64974730A>T uc001jmn.3 - 7 1497 c.1197T>A c.(1195-1197)aaT>aaA p.N399K JMJD1C_uc001jml.3_Missense_Mutation_p.N180K|JMJD1C_uc001jmm.3_Missense_Mutation_p.N111K|JMJD1C_uc010qiq.2_Missense_Mutation_p.N217K|JMJD1C_uc009xpi.3_Missense_Mutation_p.N217K|JMJD1C_uc009xpj.2_Non-coding_Transcript|JMJD1C_uc001jmp.1_Missense_Mutation_p.N111K NM_032776 NP_116165 Q15652 JHD2C_HUMAN Homo sapiens jumonji domain containing 1C (JMJD1C), transcript variant 1, mRNA. 399 blood coagulation|regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleoplasm histone demethylase activity (H3-K9 specific)|metal ion binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|thyroid hormone receptor binding breast(2)|central_nervous_system(2)|cervix(1)|endometrium(8)|kidney(8)|large_intestine(9)|lung(27)|ovary(6)|prostate(4)|skin(4)|stomach(3)|upper_aerodigestive_tract(3) 77 Prostate(12;0.0119)|all_hematologic(501;0.191) TTTTCAATTCATTCTCTGGCT 0.348000 42 27 0 0 0.000586117 0 0 AHNAK2 113146 broad.mit.edu 37 14 105418164 105418164 + Silent SNP G A A TCGA-EE-A3AC-06A-11D-A196-08 TCGA-EE-A3AC-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 883d623b-c427-4444-9ee3-66d18648130f f8f00311-8db5-4187-bcb8-5054d9fbdac3 g.chr14:105418164G>A uc010axc.1 - 6 3744 c.3624C>T c.(3622-3624)acC>acT p.T1208T AHNAK2_uc021seo.1_Intron|AHNAK2_uc001ypx.2_Silent_p.T1108T NM_138420 NP_612429 Q8IVF2 AHNK2_HUMAN Homo sapiens AHNAK nucleoprotein 2 (AHNAK2), mRNA. 1208 nucleus 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) TGAGGTCAGTGGTCTTGAGGT 0.657000 18 47 0 0 0.000781405 0 0 DNAH7 56171 broad.mit.edu 37 2 196852704 196852704 + Missense_Mutation SNP C T T TCGA-EE-A3AC-06A-11D-A196-08 TCGA-EE-A3AC-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 883d623b-c427-4444-9ee3-66d18648130f f8f00311-8db5-4187-bcb8-5054d9fbdac3 g.chr2:196852704C>T uc002utj.4 - 12 1704 c.1603G>A c.(1603-1605)Gaa>Aaa p.E535K NM_018897 NP_061720 Q8WXX0 DYH7_HUMAN Homo sapiens dynein, axonemal, heavy chain 7 (DNAH7), mRNA. 535 Stem (By similarity). ciliary or flagellar motility|microtubule-based movement axonemal dynein complex|cilium axoneme|cytoplasm|microtubule ATP binding|microtubule motor activity NS(4)|breast(2)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(15)|large_intestine(28)|liver(3)|lung(100)|ovary(4)|prostate(5)|skin(26)|upper_aerodigestive_tract(2)|urinary_tract(3) 205 TACTGTATTTCCTCTATTAGT 0.328000 27 13 0 0 0.000308642 0 0 ASXL3 80816 broad.mit.edu 37 18 31325947 31325947 + Silent SNP C T T TCGA-EE-A3AC-06A-11D-A196-08 TCGA-EE-A3AC-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 883d623b-c427-4444-9ee3-66d18648130f f8f00311-8db5-4187-bcb8-5054d9fbdac3 g.chr18:31325947C>T uc010dmg.1 + 11 6190 c.6135C>T c.(6133-6135)ctC>ctT p.L2045L ASXL3_uc002kxq.2_Silent_p.L1752L NM_030632 NP_085135 Q9C0F0 ASXL3_HUMAN Homo sapiens additional sex combs like 3 (Drosophila) (ASXL3), mRNA. 2045 Pro-rich. regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus metal ion binding breast(3)|endometrium(3)|kidney(3)|large_intestine(6)|lung(22)|ovary(2)|pancreas(1)|skin(2)|urinary_tract(1) 43 ctccacctcTCCCTAATGCAG 0.582000 8 5 0 0 0.000602214 0 0 OR52R1 119695 broad.mit.edu 37 11 4825415 4825415 + Silent SNP G A A TCGA-EE-A3AC-06A-11D-A196-08 TCGA-EE-A3AC-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 883d623b-c427-4444-9ee3-66d18648130f f8f00311-8db5-4187-bcb8-5054d9fbdac3 g.chr11:4825415G>A uc021qcs.1 - 0 196 c.196C>T c.(196-198)Ctg>Ttg p.L66L NM_001005177 NP_001005177 Q8NGF1 O52R1_HUMAN Homo sapiens olfactory receptor, family 52, subfamily R, member 1 (OR52R1), mRNA. 66 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity breast(1)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(14)|prostate(1)|skin(3) 29 Medulloblastoma(188;0.0025)|Breast(177;0.0184)|all_neural(188;0.0227) Epithelial(150;4.77e-12)|BRCA - Breast invasive adenocarcinoma(625;0.00435)|LUSC - Lung squamous cell carcinoma(625;0.19) AGCATGGCCAGAAAGAGGTAC 0.498000 21 9 0 0 0.000274275 0 0 ITLN2 142683 broad.mit.edu 37 1 160914959 160914959 + Missense_Mutation SNP C T T TCGA-EE-A3AC-06A-11D-A196-08 TCGA-EE-A3AC-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 883d623b-c427-4444-9ee3-66d18648130f f8f00311-8db5-4187-bcb8-5054d9fbdac3 g.chr1:160914959C>T uc001fxd.3 - 7 1007 c.949G>A c.(949-951)Gag>Aag p.E317K ITLN2_uc009wts.3_Missense_Mutation_p.E316K|ITLN2_uc010pju.2_Missense_Mutation_p.E234K NM_080878 NP_543154 Q8WWU7 ITLN2_HUMAN Homo sapiens intelectin 2 (ITLN2), mRNA. 317 signal transduction extracellular region receptor binding|sugar binding endometrium(4)|large_intestine(4)|lung(5)|ovary(1)|pancreas(1)|skin(2)|stomach(1)|urinary_tract(1) 19 all_cancers(52;2.99e-17)|all_hematologic(112;0.093) BRCA - Breast invasive adenocarcinoma(70;0.00275) ACAGCCGCCTCCGTTATCTCC 0.547000 46 16 0 0 0.000958276 0 0 CFTR 1080 broad.mit.edu 37 7 117174389 117174389 + Silent SNP C T T TCGA-EE-A3AC-06A-11D-A196-08 TCGA-EE-A3AC-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 883d623b-c427-4444-9ee3-66d18648130f f8f00311-8db5-4187-bcb8-5054d9fbdac3 g.chr7:117174389C>T uc003vjd.3 + 4 681 c.549C>T c.(547-549)ctC>ctT p.L183L CFTR_uc011knq.2_5'UTR NM_000492 NP_000483 P13569 CFTR_HUMAN Homo sapiens cystic fibrosis transmembrane conductance regulator (ATP-binding cassette sub-family C, member 7) (CFTR), mRNA. 183 ABC transmembrane type-1 1. respiratory gaseous exchange apical plasma membrane|basolateral plasma membrane|chloride channel complex|early endosome membrane ATP binding|ATP-binding and phosphorylation-dependent chloride channel activity|PDZ domain binding|channel-conductance-controlling ATPase activity|chloride channel regulator activity|enzyme binding NS(1)|breast(2)|central_nervous_system(2)|cervix(1)|endometrium(5)|kidney(6)|large_intestine(15)|lung(22)|ovary(2)|pancreas(1)|prostate(3)|skin(9) 69 Lung NSC(10;0.00148)|all_lung(10;0.00171) STAD - Stomach adenocarcinoma(10;0.000534) Bumetanide(DB00887)|Glibenclamide(DB01016) TTGTTAGTCTCCTTTCCAACA 0.303000 Cystic Fibrosis 30 16 0 0 0.000958276 0 0 SLC22A2 6582 broad.mit.edu 37 6 160664693 160664693 + Missense_Mutation SNP G A A TCGA-EE-A3AC-06A-11D-A196-08 TCGA-EE-A3AC-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 883d623b-c427-4444-9ee3-66d18648130f f8f00311-8db5-4187-bcb8-5054d9fbdac3 g.chr6:160664693G>A uc003qtf.3 - 6 1364 c.1190C>T c.(1189-1191)aCc>aTc p.T397I NM_003058 NP_003049 O15244 S22A2_HUMAN Homo sapiens solute carrier family 22 (organic cation transporter), member 2 (SLC22A2), mRNA. 397 body fluid secretion|neurotransmitter biosynthetic process|neurotransmitter secretion integral to plasma membrane|membrane fraction neurotransmitter transporter activity|organic cation transmembrane transporter activity breast(2)|endometrium(3)|kidney(1)|large_intestine(2)|lung(16)|prostate(2)|skin(1) 27 Breast(66;0.000776)|Ovarian(120;0.0303) OV - Ovarian serous cystadenocarcinoma(65;2.28e-17)|BRCA - Breast invasive adenocarcinoma(81;6.29e-06) GCGGTCGATGGTGAGGATGAT 0.522000 21 31 0 0 0.00178596 0 0 ST8SIA4 7903 broad.mit.edu 37 5 100147758 100147758 + Silent SNP G A A TCGA-EE-A3AC-06A-11D-A196-08 TCGA-EE-A3AC-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 883d623b-c427-4444-9ee3-66d18648130f f8f00311-8db5-4187-bcb8-5054d9fbdac3 g.chr5:100147758G>A uc003knk.3 - 4 1201 c.873C>T c.(871-873)ttC>ttT p.F291F NM_005668 NP_005659 Q92187 SIA8D_HUMAN Homo sapiens ST8 alpha-N-acetyl-neuraminide alpha-2,8-sialyltransferase 4 (ST8SIA4), transcript variant 1, mRNA. 291 N-glycan processing|axon guidance integral to Golgi membrane alpha-N-acetylneuraminate alpha-2,8-sialyltransferase activity p.F291L(2) NS(1)|central_nervous_system(1)|endometrium(3)|large_intestine(11)|lung(7)|stomach(1)|upper_aerodigestive_tract(1) 25 all_cancers(142;1.5e-07)|all_epithelial(76;1.43e-10)|Prostate(80;0.000644)|Lung NSC(167;0.0059)|all_lung(232;0.00914)|Ovarian(225;0.024)|Colorectal(57;0.09)|Breast(839;0.203) COAD - Colon adenocarcinoma(37;0.00402) TTTCATCACAGAATCTTGTGG 0.363000 48 36 0 0 0.00111076 0 0 KRT74 121391 broad.mit.edu 37 12 52963700 52963700 + Silent SNP C T T TCGA-EE-A3AC-06A-11D-A196-08 TCGA-EE-A3AC-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 883d623b-c427-4444-9ee3-66d18648130f f8f00311-8db5-4187-bcb8-5054d9fbdac3 g.chr12:52963700C>T uc001sap.1 - 5 1125 c.1077G>A c.(1075-1077)gtG>gtA p.V359V NM_175053 NP_778223 Q7RTS7 K2C74_HUMAN Homo sapiens keratin 74 (KRT74), mRNA. 359 Coil 2.|Rod. keratin filament structural molecule activity kidney(2)|large_intestine(6)|lung(11)|ovary(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(2) 28 BRCA - Breast invasive adenocarcinoma(357;0.191) GGTTCAGCTCCACCATCTCGC 0.582000 34 18 0 0 0.000566183 0 0 GREB1 9687 broad.mit.edu 37 2 11750946 11750946 + Silent SNP G A A TCGA-EE-A3AC-06A-11D-A196-08 TCGA-EE-A3AC-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 883d623b-c427-4444-9ee3-66d18648130f f8f00311-8db5-4187-bcb8-5054d9fbdac3 g.chr2:11750946G>A uc002rbk.1 + 17 3099 c.2799G>A c.(2797-2799)caG>caA p.Q933Q GREB1_uc002rbo.1_Silent_p.Q567Q|GREB1_uc002rbp.1_5'Flank NM_014668 NP_055483 Q4ZG55 GREB1_HUMAN Homo sapiens growth regulation by estrogen in breast cancer 1 (GREB1), transcript variant a, mRNA. 933 integral to membrane breast(3)|central_nervous_system(2)|endometrium(2)|kidney(4)|large_intestine(9)|lung(9)|ovary(1) 30 all_hematologic(175;0.127)|Acute lymphoblastic leukemia(172;0.155) Epithelial(75;0.115)|OV - Ovarian serous cystadenocarcinoma(76;0.186) AGATCACGCAGAACCTCCTCA 0.662000 18 16 0 0 0.000422831 0 0 CCDC147 159686 broad.mit.edu 37 10 106153090 106153090 + Missense_Mutation SNP G A A TCGA-EE-A3AC-06A-11D-A196-08 TCGA-EE-A3AC-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 883d623b-c427-4444-9ee3-66d18648130f f8f00311-8db5-4187-bcb8-5054d9fbdac3 g.chr10:106153090G>A uc001kyh.3 + 10 1665 c.1531G>A c.(1531-1533)Gaa>Aaa p.E511K NM_001008723 NP_001008723 Q5T655 CC147_HUMAN Homo sapiens coiled-coil domain containing 147 (CCDC147), mRNA. 511 NS(1)|breast(1)|central_nervous_system(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(16)|ovary(3)|pancreas(1)|prostate(3)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(2) 52 Colorectal(252;0.103)|Breast(234;0.122) Epithelial(162;7.55e-10)|all cancers(201;3.37e-08)|BRCA - Breast invasive adenocarcinoma(275;0.0189) TGGTTAGGATGAAATAACAGA 0.378000 30 16 0 0 0.00074312 0 0 PCYT2 5833 broad.mit.edu 37 17 79863007 79863007 + Silent SNP G A A TCGA-EE-A3AC-06A-11D-A196-08 TCGA-EE-A3AC-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 883d623b-c427-4444-9ee3-66d18648130f f8f00311-8db5-4187-bcb8-5054d9fbdac3 g.chr17:79863007G>A uc002kcf.2 - 11 1102 c.993C>T c.(991-993)ttC>ttT p.F331F PCYT2_uc010wvb.2_Silent_p.F299F|PCYT2_uc002kce.2_Silent_p.F253F|PCYT2_uc002kch.2_Silent_p.F349F|PCYT2_uc002kci.2_Silent_p.F290F|PCYT2_uc010wvc.2_Silent_p.F253F NM_002861 NP_002852 Q99447 PCY2_HUMAN Homo sapiens phosphate cytidylyltransferase 2, ethanolamine (PCYT2), transcript variant 2, mRNA. 331 Catalytic 2 (Potential). phospholipid biosynthetic process ethanolamine-phosphate cytidylyltransferase activity breast(2)|endometrium(1)|lung(4)|ovary(1) 8 all_neural(118;0.0878)|Ovarian(332;0.12) BRCA - Breast invasive adenocarcinoma(99;0.013)|OV - Ovarian serous cystadenocarcinoma(97;0.0382) CAATCTGACGGAAGATGCCCC 0.622000 13 13 0 0 0.00074312 0 0 ZZEF1 23140 broad.mit.edu 37 17 3977629 3977629 + Missense_Mutation SNP G A A TCGA-EE-A3AC-06A-11D-A196-08 TCGA-EE-A3AC-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 883d623b-c427-4444-9ee3-66d18648130f f8f00311-8db5-4187-bcb8-5054d9fbdac3 g.chr17:3977629G>A uc002fxe.3 - 23 3564 c.3500C>T c.(3499-3501)gCc>gTc p.A1167V NM_015113 NP_055928 O43149 ZZEF1_HUMAN Homo sapiens zinc finger, ZZ-type with EF-hand domain 1 (ZZEF1), mRNA. 1167 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 CCGAGGACCGGCCTTGAAGGT 0.498000 OREG0024096 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 29 51 0 0 0.000781405 0 0 SLC27A5 10998 broad.mit.edu 37 19 59010878 59010878 + Missense_Mutation SNP G A A TCGA-EE-A3AC-06A-11D-A196-08 TCGA-EE-A3AC-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 883d623b-c427-4444-9ee3-66d18648130f f8f00311-8db5-4187-bcb8-5054d9fbdac3 g.chr19:59010878G>A uc002qtc.2 - 6 1758 c.1648C>T c.(1648-1650)Cgc>Tgc p.R550C SLC27A5_uc002qtb.3_5'Flank NM_012254 NP_036386 Q9Y2P5 S27A5_HUMAN Homo sapiens solute carrier family 27 (fatty acid transporter), member 5 (SLC27A5), mRNA. 550 bile acid and bile salt transport|bile acid biosynthetic process|very long-chain fatty acid metabolic process endoplasmic reticulum membrane|integral to membrane ATP binding|cholate-CoA ligase activity|long-chain fatty acid-CoA ligase activity central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(4)|lung(7)|ovary(1)|skin(1)|urinary_tract(1) 19 all_cancers(17;4.4e-22)|all_epithelial(17;2.15e-16)|Lung NSC(17;1.24e-06)|all_lung(17;5.41e-06)|Colorectal(82;3.46e-05)|Renal(17;0.00179)|all_neural(62;0.00607)|Ovarian(87;0.0443)|Breast(46;0.0928)|Medulloblastoma(540;0.184) UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0168)|Lung(386;0.181) TCCCCGAGGCGGTCGCGGAAG 0.657000 29 25 0 0 0.00106085 0 0 ZNF583 147949 broad.mit.edu 37 19 56935483 56935483 + Missense_Mutation SNP C T T TCGA-EE-A3AC-06A-11D-A196-08 TCGA-EE-A3AC-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 883d623b-c427-4444-9ee3-66d18648130f f8f00311-8db5-4187-bcb8-5054d9fbdac3 g.chr19:56935483C>T uc010ygl.1 + 4 1621 c.1456C>T c.(1456-1458)Cat>Tat p.H486Y ZNF583_uc002qnc.2_Missense_Mutation_p.H486Y|ZNF583_uc010ygm.1_Missense_Mutation_p.H486Y NM_001159860 NP_689691 Q96ND8 ZN583_HUMAN Homo sapiens zinc finger protein 583 (ZNF583), transcript variant 2, mRNA. 486 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|lung(5)|ovary(2)|prostate(1)|skin(1) 26 Colorectal(82;0.000256)|Ovarian(87;0.243) GBM - Glioblastoma multiforme(193;0.0564) TCAGAGAATTCATACTGGAGA 0.383000 38 25 0 0 0.000720815 0 0 CALML3 810 broad.mit.edu 37 10 5567221 5567221 + Missense_Mutation SNP G A A TCGA-EE-A3AC-06A-11D-A196-08 TCGA-EE-A3AC-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 883d623b-c427-4444-9ee3-66d18648130f f8f00311-8db5-4187-bcb8-5054d9fbdac3 g.chr10:5567221G>A uc001iie.1 + 0 298 c.173G>A c.(172-174)cGg>cAg p.R58Q AK128534_uc001iid.1_5'Flank NM_005185 NP_005176 P27482 CALL3_HUMAN Homo sapiens calmodulin-like 3 (CALML3), mRNA. 58 EF-hand 2. calcium ion binding endometrium(3)|lung(2) 5 GAGATCGACCGGGACGGCAAC 0.662000 15 10 0 0 0.00136819 0 0 BMP7 655 broad.mit.edu 37 20 55803385 55803385 + Missense_Mutation SNP C T T TCGA-EE-A3AC-06A-11D-A196-08 TCGA-EE-A3AC-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 883d623b-c427-4444-9ee3-66d18648130f f8f00311-8db5-4187-bcb8-5054d9fbdac3 g.chr20:55803385C>T uc010gip.1 - 1 1040 c.511G>A c.(511-513)Gca>Aca p.A171T BMP7_uc002xyc.3_Missense_Mutation_p.A171T NM_001719 NP_001710 P18075 BMP7_HUMAN Homo sapiens bone morphogenetic protein 7 (BMP7), mRNA. 171 BMP signaling pathway|SMAD protein signal transduction|cartilage development|cellular response to hypoxia|epithelial to mesenchymal transition|growth|mesonephros development|negative regulation of MAP kinase activity|negative regulation of NF-kappaB import into nucleus|negative regulation of NF-kappaB transcription factor activity|negative regulation of glomerular mesangial cell proliferation|negative regulation of mitosis|negative regulation of neuron differentiation|negative regulation of phosphorylation|negative regulation of striated muscle cell apoptosis|negative regulation of transcription, DNA-dependent|ossification|pathway-restricted SMAD protein phosphorylation|positive regulation of bone mineralization|positive regulation of osteoblast differentiation|positive regulation of pathway-restricted SMAD protein phosphorylation|protein localization to nucleus|regulation of removal of superoxide radicals|steroid hormone mediated signaling pathway|ureteric bud development extracellular space cytokine activity|growth factor activity endometrium(4)|kidney(1)|large_intestine(7)|lung(6)|prostate(1)|skin(1) 20 all_lung(29;0.0133)|Melanoma(10;0.242) BRCA - Breast invasive adenocarcinoma(4;2.49e-13)|Epithelial(14;1.74e-08)|all cancers(14;2.05e-07) AATTCGGCTGCCGTGACAGCT 0.532000 84 149 0 0 0.000781405 0 0 SCN9A 6335 broad.mit.edu 37 2 167060676 167060676 + Silent SNP G A A TCGA-EE-A3AC-06A-11D-A196-08 TCGA-EE-A3AC-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 883d623b-c427-4444-9ee3-66d18648130f f8f00311-8db5-4187-bcb8-5054d9fbdac3 g.chr2:167060676G>A uc010fpl.3 - 25 4871 c.4530C>T c.(4528-4530)atC>atT p.I1510I BC051759_uc002udp.3_Intron NM_002977 NP_002968 Q15858 SCN9A_HUMAN Homo sapiens sodium channel, voltage-gated, type IX, alpha subunit (SCN9A), mRNA. 1521 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) TAAGAACCATGATACTAATAT 0.323000 44 27 0 0 0.000720815 0 0 PRKACG 5568 broad.mit.edu 37 9 71628039 71628039 + Missense_Mutation SNP C T T TCGA-EE-A3AC-06A-11D-A196-08 TCGA-EE-A3AC-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 883d623b-c427-4444-9ee3-66d18648130f f8f00311-8db5-4187-bcb8-5054d9fbdac3 g.chr9:71628039C>T uc004agy.3 - 0 1001 c.970G>A c.(970-972)Gat>Aat p.D324N NM_002732 NP_002723 P22612 KAPCG_HUMAN Homo sapiens protein kinase, cAMP-dependent, catalytic, gamma (PRKACG), mRNA. 324 AGC-kinase C-terminal. activation of phospholipase C activity|activation of protein kinase A activity|blood coagulation|cellular response to glucagon stimulus|energy reserve metabolic process|gluconeogenesis|intracellular protein kinase cascade|male gonad development|nerve growth factor receptor signaling pathway|regulation of insulin secretion|spermatogenesis|transmembrane transport|triglyceride catabolic process|water transport cytosol|nucleoplasm ATP binding|cAMP-dependent protein kinase activity central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(5)|lung(3)|ovary(1)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1) 22 TTACTGGCATCCCCAGGGCCT 0.522000 47 27 0 0 0.00209593 0 0 FAM5B 57795 broad.mit.edu 37 1 177199273 177199273 + Silent SNP G A A TCGA-EE-A3AC-06A-11D-A196-08 TCGA-EE-A3AC-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 883d623b-c427-4444-9ee3-66d18648130f f8f00311-8db5-4187-bcb8-5054d9fbdac3 g.chr1:177199273G>A uc001glf.3 + 1 573 c.261G>A c.(259-261)agG>agA p.R87R NM_021165 NP_066988 Q9C0B6 FAM5B_HUMAN Homo sapiens family with sequence similarity 5, member B (FAM5B), mRNA. 87 extracellular region breast(3)|endometrium(8)|haematopoietic_and_lymphoid_tissue(3)|kidney(4)|large_intestine(21)|liver(1)|lung(41)|ovary(2)|prostate(1)|skin(7)|upper_aerodigestive_tract(2)|urinary_tract(1) 94 CCAGGTACAGGATTTATAGGT 0.612000 66 22 0 0 0.000720815 0 0 IGSF9 57549 broad.mit.edu 37 1 159912790 159912790 + Silent SNP G A A TCGA-EE-A3AC-06A-11D-A196-08 TCGA-EE-A3AC-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 883d623b-c427-4444-9ee3-66d18648130f f8f00311-8db5-4187-bcb8-5054d9fbdac3 g.chr1:159912790G>A uc001fur.2 - 2 408 c.210C>T c.(208-210)ttC>ttT p.F70F IGSF9_uc001fuq.2_Silent_p.F70F NM_001135050 NP_001128522 Q9P2J2 TUTLA_HUMAN Homo sapiens immunoglobulin superfamily, member 9 (IGSF9), transcript variant 1, mRNA. 70 Ig-like 1. cell junction|integral to membrane|synapse p.F70F(2) central_nervous_system(2)|endometrium(8)|kidney(3)|large_intestine(13)|lung(17)|ovary(3)|prostate(4)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1) 56 all_hematologic(112;0.0597) Breast(1374;0.000126) BRCA - Breast invasive adenocarcinoma(70;0.111) AGTAGAGGCCGAACTGGATGA 0.602000 69 17 0 0 0.00152264 0 0 RGS7 6000 broad.mit.edu 37 1 241262011 241262011 + Missense_Mutation SNP G A A TCGA-EE-A3AC-06A-11D-A196-08 TCGA-EE-A3AC-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 883d623b-c427-4444-9ee3-66d18648130f f8f00311-8db5-4187-bcb8-5054d9fbdac3 g.chr1:241262011G>A uc001hyv.2 - 2 460 c.130C>T c.(130-132)Cgt>Tgt p.R44C RGS7_uc010pyh.2_Missense_Mutation_p.R18C|RGS7_uc010pyj.1_5'UTR|RGS7_uc001hyu.2_Missense_Mutation_p.R44C|RGS7_uc009xgn.1_Missense_Mutation_p.R44C|RGS7_uc001hyw.2_Missense_Mutation_p.R44C NM_002924 NP_002915 P49802 RGS7_HUMAN Homo sapiens regulator of G-protein signaling 7 (RGS7), mRNA. 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(3) 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 55 14 0 0 0.00074312 0 0 CTTNBP2 83992 broad.mit.edu 37 7 117365238 117365238 + Missense_Mutation SNP T C C TCGA-EE-A3AC-06A-11D-A196-08 TCGA-EE-A3AC-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 883d623b-c427-4444-9ee3-66d18648130f f8f00311-8db5-4187-bcb8-5054d9fbdac3 g.chr7:117365238T>C uc003vjf.3 - 17 4221 c.4129A>G c.(4129-4131)Aaa>Gaa p.K1377E NM_033427 NP_219499 Q8WZ74 CTTB2_HUMAN Homo sapiens cortactin binding protein 2 (CTTNBP2), mRNA. 1377 breast(3)|central_nervous_system(3)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(13)|lung(36)|ovary(4)|prostate(5)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(1) 83 Lung NSC(10;0.0018)|all_lung(10;0.002) LUSC - Lung squamous cell carcinoma(290;0.133) GGTTGTCTTTTCACAGAGGCT 0.502000 127 76 0 0 0.000781405 0 0 PSMD13 5719 broad.mit.edu 37 11 244428 244428 + Missense_Mutation SNP C T T TCGA-EE-A3AC-06A-11D-A196-08 TCGA-EE-A3AC-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 883d623b-c427-4444-9ee3-66d18648130f f8f00311-8db5-4187-bcb8-5054d9fbdac3 g.chr11:244428C>T uc001loo.2 + 2 516 c.274C>T c.(274-276)Cct>Tct p.P92S PSMD13_uc010qvr.1_Non-coding_Transcript|PSMD13_uc001lol.2_Missense_Mutation_p.P90S|PSMD13_uc001lon.2_Missense_Mutation_p.P25S NM_175932 NP_787128 Q9UNM6 PSD13_HUMAN Homo sapiens proteasome (prosome, macropain) 26S subunit, non-ATPase, 13 (PSMD13), transcript variant 2, mRNA. 90 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|S phase of mitotic cell cycle|anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|apoptosis|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|viral reproduction proteasome regulatory particle protein binding NS(1)|large_intestine(2)|lung(5)|ovary(1)|skin(1) 10 all_cancers(49;1.58e-09)|all_epithelial(84;2.71e-06)|Breast(177;0.000162)|Ovarian(85;0.000626)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.0538)|all_lung(207;0.0713) all cancers(45;7.79e-27)|Epithelial(43;4e-26)|OV - Ovarian serous cystadenocarcinoma(40;6.02e-21)|BRCA - Breast invasive adenocarcinoma(625;3.93e-05)|Lung(200;0.112)|LUSC - Lung squamous cell carcinoma(625;0.129) TTTTCCAGATCCTAATGTGGC 0.398000 34 21 0 0 0.000375601 0 0 PTPRE 5791 broad.mit.edu 37 10 129846043 129846043 + Silent SNP G A A TCGA-EE-A3AC-06A-11D-A196-08 TCGA-EE-A3AC-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 883d623b-c427-4444-9ee3-66d18648130f f8f00311-8db5-4187-bcb8-5054d9fbdac3 g.chr10:129846043G>A uc009yat.3 + 5 675 c.258G>A c.(256-258)agG>agA p.R86R PTPRE_uc001lkb.3_Silent_p.R75R|PTPRE_uc010qup.1_Non-coding_Transcript|PTPRE_uc009yau.2_Silent_p.R75R|PTPRE_uc001lkc.1_Non-coding_Transcript|PTPRE_uc001lkd.3_Silent_p.R17R|PTPRE_uc010quq.1_5'Flank NM_006504 NP_006495 P23469 PTPRE_HUMAN Homo sapiens protein tyrosine phosphatase, receptor type, E (PTPRE), transcript variant 1, mRNA. 75 negative regulation of insulin receptor signaling pathway|protein phosphorylation cytoplasm|integral to membrane|intermediate filament cytoskeleton|nucleus|plasma membrane transmembrane receptor protein tyrosine phosphatase activity endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(5)|lung(4)|ovary(1)|prostate(2)|skin(2)|stomach(1)|urinary_tract(1) 22 all_epithelial(44;1.66e-05)|all_lung(145;0.00456)|Lung NSC(174;0.0066)|all_neural(114;0.0936)|Colorectal(57;0.141)|Breast(234;0.166)|Melanoma(40;0.203) GGAAGCAGAGGAAAGCTGTGG 0.552000 34 22 0 0 0.000375601 0 0 ABCA8 10351 broad.mit.edu 37 17 66903943 66903943 + Missense_Mutation SNP G A A TCGA-EE-A3AC-06A-11D-A196-08 TCGA-EE-A3AC-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 883d623b-c427-4444-9ee3-66d18648130f f8f00311-8db5-4187-bcb8-5054d9fbdac3 g.chr17:66903943G>A uc002jhq.3 - 17 2556 c.2216C>T c.(2215-2217)tCa>tTa p.S739L ABCA8_uc002jhp.3_Missense_Mutation_p.S699L|ABCA8_uc010wqq.2_Missense_Mutation_p.S739L|ABCA8_uc010wqr.2_Missense_Mutation_p.S678L|ABCA8_uc002jhr.3_Missense_Mutation_p.S739L NM_007168 NP_009099 O94911 ABCA8_HUMAN Homo sapiens ATP-binding cassette, sub-family A (ABC1), member 8 (ABCA8), mRNA. 699 integral to membrane|plasma membrane ATP binding|ATPase activity, coupled to transmembrane movement of substances breast(3)|central_nervous_system(2)|endometrium(9)|kidney(5)|large_intestine(19)|liver(1)|lung(30)|ovary(3)|pancreas(2)|prostate(2)|skin(3)|urinary_tract(4) 83 Breast(10;4.56e-13) GCTTTTGGCTGATAATTTGGC 0.313000 29 35 0 0 0.000814825 0 0 VIL1 7429 broad.mit.edu 37 2 219292982 219292982 + Silent SNP G A A TCGA-EE-A3AC-06A-11D-A196-08 TCGA-EE-A3AC-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 883d623b-c427-4444-9ee3-66d18648130f f8f00311-8db5-4187-bcb8-5054d9fbdac3 g.chr2:219292982G>A uc002vib.3 + 4 511 c.489G>A c.(487-489)ggG>ggA p.G163G VIL1_uc010zke.2_Intron|VIL1_uc002via.3_Silent_p.G163G|VIL1_uc002vic.1_Silent_p.G163G NM_007127 NP_009058 P09327 VILI_HUMAN Homo sapiens villin 1 (VIL1), mRNA. 163 Core. actin filament capping|actin filament depolymerization|actin filament polymerization|actin filament severing|apoptosis|cellular response to epidermal growth factor stimulus|cytoplasmic actin-based contraction involved in cell motility|epidermal growth factor receptor signaling pathway|positive regulation of actin filament bundle assembly|positive regulation of epithelial cell migration|regulation of actin nucleation|regulation of cell shape|regulation of lamellipodium morphogenesis|regulation of wound healing|response to bacterium actin filament bundle|cytoplasm|filopodium tip|intracellular membrane-bounded organelle|lamellipodium|microvillus|ruffle actin filament binding|calcium ion binding|caspase inhibitor activity|lysophosphatidic acid binding|phosphatidylinositol-4,5-bisphosphate binding|protein homodimerization activity NS(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(20)|ovary(2)|prostate(3)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1) 41 Renal(207;0.0474) Epithelial(149;6.88e-07)|all cancers(144;0.00013)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942) TCAACCGAGGGGATGTTTTCC 0.547000 41 29 0 0 0.00209593 0 0 KIF20B 9585 broad.mit.edu 37 10 91469688 91469688 + Missense_Mutation SNP T C C TCGA-EE-A3AC-06A-11D-A196-08 TCGA-EE-A3AC-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 883d623b-c427-4444-9ee3-66d18648130f f8f00311-8db5-4187-bcb8-5054d9fbdac3 g.chr10:91469688T>C uc001kgs.1 + 4 428 c.356T>C c.(355-357)tTt>tCt p.F119S KIF20B_uc001kgr.1_Missense_Mutation_p.F119S NM_016195 NP_057279 Q96Q89 KI20B_HUMAN Homo sapiens kinesin family member 20B (KIF20B), mRNA. 119 Kinesin-motor. cell cycle arrest|cell division|microtubule-based movement|mitosis|regulation of mitosis centrosome|microtubule|nucleolus|nucleoplasm|spindle ATP binding|ATPase activity|WW domain binding|microtubule motor activity endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(20)|lung(15)|ovary(1)|pancreas(1)|prostate(1)|skin(4)|stomach(2)|upper_aerodigestive_tract(1) 58 GCTTAGGTTTTTGGCCCAGCA 0.333000 38 21 0 0 0.00188189 0 0 EPHA6 285220 broad.mit.edu 37 3 96706675 96706675 + Missense_Mutation SNP G C C TCGA-EE-A3AC-06A-11D-A196-08 TCGA-EE-A3AC-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 883d623b-c427-4444-9ee3-66d18648130f f8f00311-8db5-4187-bcb8-5054d9fbdac3 g.chr3:96706675G>C uc010how.1 + 2 995 c.952G>C c.(952-954)Gtt>Ctt p.V318L EPHA6_uc003drp.1_Missense_Mutation_p.V318L NM_001080448 NP_001073917 Q9UF33 EPHA6_HUMAN Homo sapiens EPH receptor A6 (EPHA6), transcript variant 1, mRNA. 223 integral to plasma membrane ATP binding|ephrin receptor activity NS(1)|breast(1)|central_nervous_system(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(6)|liver(2)|lung(60)|ovary(3)|skin(11)|stomach(5)|upper_aerodigestive_tract(2) 101 CATTCCAAGGGTTGATTCCTC 0.483000 70 43 0 0 0.000680045 0 0 AK024141 0 broad.mit.edu 37 14 73079209 73079209 + RNA SNP C T T TCGA-EE-A3AC-06A-11D-A196-08 TCGA-EE-A3AC-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 883d623b-c427-4444-9ee3-66d18648130f f8f00311-8db5-4187-bcb8-5054d9fbdac3 g.chr14:73079209C>T uc010arh.1 - 0 c.595G>A Homo sapiens cDNA FLJ14079 fis, clone HEMBB1002134, weakly similar to ZINC-FINGER PROTEIN NEURO-D4. GGTATATTTTCTTTTTCCTAT 0.453000 119 57 0 0 0.000781405 0 0 CYP1A2 1544 broad.mit.edu 37 15 75044176 75044176 + Silent SNP G A A TCGA-EE-A3AC-06A-11D-A196-08 TCGA-EE-A3AC-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 883d623b-c427-4444-9ee3-66d18648130f f8f00311-8db5-4187-bcb8-5054d9fbdac3 g.chr15:75044176G>A uc002ayr.1 + 3 1087 c.1023G>A c.(1021-1023)agG>agA p.R341R NM_000761 NP_000752 P05177 CP1A2_HUMAN Homo sapiens cytochrome P450, family 1, subfamily A, polypeptide 2 (CYP1A2), mRNA. 341 alkaloid metabolic process|exogenous drug catabolic process|methylation|monocarboxylic acid metabolic process|monoterpenoid metabolic process|oxidative deethylation|oxidative demethylation|steroid catabolic process|toxin biosynthetic process|xenobiotic metabolic process endoplasmic reticulum membrane|microsome aromatase activity|caffeine oxidase activity|demethylase activity|electron carrier activity|enzyme binding|heme binding|oxygen binding breast(2)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(7)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(2) 33 Acenocoumarol(DB01418)|Acetaminophen(DB00316)|Aciclovir(DB00787)|Alosetron(DB00969)|Aminophenazone(DB01424)|Amitriptyline(DB00321)|Anagrelide(DB00261)|Azelastine(DB00972)|Bortezomib(DB00188)|Caffeine(DB00201)|Carmustine(DB00262)|Chlordiazepoxide(DB00475)|Chlorpromazine(DB00477)|Chlorzoxazone(DB00356)|Cimetidine(DB00501)|Cinacalcet(DB01012)|Ciprofloxacin(DB00537)|Clomipramine(DB01242)|Clotrimazole(DB00257)|Clozapine(DB00363)|Conjugated Estrogens(DB00286)|Cyclobenzaprine(DB00924)|Dacarbazine(DB00851)|Desloratadine(DB00967)|Diazepam(DB00829)|Dibucaine(DB00527)|Diclofenac(DB00586)|Duloxetine(DB00476)|Enoxacin(DB00467)|Esomeprazole(DB00736)|Estradiol(DB00783)|Estrone(DB00655)|Fluorouracil(DB00544)|Flutamide(DB00499)|Fluvoxamine(DB00176)|Frovatriptan(DB00998)|Grepafloxacin(DB00365)|Haloperidol(DB00502)|Hesperetin(DB01094)|Imipramine(DB00458)|Ketoconazole(DB01026)|Leflunomide(DB01097)|Levobupivacaine(DB01002)|Levofloxacin(DB01137)|Lidocaine(DB00281)|Lomefloxacin(DB00978)|Melatonin(DB01065)|Mephenytoin(DB00532)|Mexiletine(DB00379)|Mirtazapine(DB00370)|Norfloxacin(DB01059)|Nortriptyline(DB00540)|Ofloxacin(DB01165)|Olanzapine(DB00334)|Ondansetron(DB00904)|Palonosetron(DB00377)|Pantoprazole(DB00213)|Pefloxacin(DB00487)|Pimozide(DB01100)|Propafenone(DB01182)|Propranolol(DB00571)|Quinidine(DB00908)|Ramelteon(DB00980)|Ranitidine(DB00863)|Rasagiline(DB01367)|Rifampin(DB01045)|Riluzole(DB00740)|Rofecoxib(DB00533)|Ropinirole(DB00268)|Ropivacaine(DB00296)|Tacrine(DB00382)|Telithromycin(DB00976)|Terfenadine(DB00342)|Theophylline(DB00277)|Thiabendazole(DB00730)|Tizanidine(DB00697)|Tolbutamide(DB01124)|Verapamil(DB00661)|Warfarin(DB00682)|Zileuton(DB00744)|Zolmitriptan(DB00315) AGATACAGAGGAAGATCCAGA 0.512000 44 25 0 0 0.000720815 0 0 OR10H1 26539 broad.mit.edu 37 19 15918036 15918036 + Missense_Mutation SNP C T T TCGA-EE-A3AC-06A-11D-A196-08 TCGA-EE-A3AC-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 883d623b-c427-4444-9ee3-66d18648130f f8f00311-8db5-4187-bcb8-5054d9fbdac3 g.chr19:15918036C>T uc002nbq.2 - 0 901 c.812G>A c.(811-813)gGa>gAa p.G271E NM_013940 NP_039228 Q9Y4A9 O10H1_HUMAN Homo sapiens olfactory receptor, family 10, subfamily H, member 1 (OR10H1), mRNA. 271 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 CAAGGTGTCTCCTTCCAGAGA 0.557000 16 16 0 0 0.000566183 0 0 ITGA11 22801 broad.mit.edu 37 15 68643004 68643005 + Missense_Mutation DNP GG AA AA TCGA-EE-A3AC-06A-11D-A196-08 TCGA-EE-A3AC-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 883d623b-c427-4444-9ee3-66d18648130f f8f00311-8db5-4187-bcb8-5054d9fbdac3 g.chr15:68643004_68643005GG>AA uc010bib.3 - 8 1097_1098 c.1010_1011CC>TT c.(1009-1011)gcc>gTT p.A337V ITGA11_uc002ari.3_Missense_Mutation_p.A337V NM_001004439 NP_001004439 Q9UKX5 ITA11_HUMAN Homo sapiens integrin, alpha 11 (ITGA11), mRNA. 337 VWFA. cell-matrix adhesion|integrin-mediated signaling pathway|muscle organ development integrin complex collagen binding|receptor activity NS(2)|breast(1)|central_nervous_system(1)|endometrium(7)|kidney(6)|large_intestine(6)|lung(22)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(3)|urinary_tract(2) 52 Tirofiban(DB00775) TGTCCTTCAAGGCAGCCTCATC 0.485000 44 16 0 0 6.4e-05 0 0 TTN 7273 broad.mit.edu 37 2 179643790 179643790 + Missense_Mutation SNP T C C TCGA-EE-A3AC-06A-11D-A196-08 TCGA-EE-A3AC-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 883d623b-c427-4444-9ee3-66d18648130f f8f00311-8db5-4187-bcb8-5054d9fbdac3 g.chr2:179643790T>C uc021vsy.1 - 23 4244 c.4019A>G c.(4018-4020)gAc>gGc p.D1340G TTN_uc021vsz.1_Missense_Mutation_p.D1294G|TTN_uc021vta.1_Missense_Mutation_p.D1294G|TTN_uc021vtb.1_Missense_Mutation_p.D1294G|TTN_uc002unb.2_Missense_Mutation_p.D1340G|AK123298_uc002unc.1_Intron NM_133378 NP_596869 Q8WZ42 TITIN_HUMAN Homo sapiens titin (TTN), transcript variant N2-A, mRNA. 1340 Ig-like 5. ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26) 1448 OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134) TTGTAGAAAGTCCATTTGGTA 0.378000 13 10 0 0 0.000673444 0 0 CCDC73 493860 broad.mit.edu 37 11 32705120 32705120 + Splice_Site SNP C T T TCGA-EE-A3AC-06A-11D-A196-08 TCGA-EE-A3AC-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 883d623b-c427-4444-9ee3-66d18648130f f8f00311-8db5-4187-bcb8-5054d9fbdac3 g.chr11:32705120C>T uc001mtv.3 - 7 435 c.391_splice c.e7-1 p.V131_splice CCDC73_uc001mtw.1_Splice_Site_p.V131_splice|CCDC73_uc009yjt.3_Splice_Site_p.V131_splice NM_001008391 NP_001008392 Q6ZRK6 CCD73_HUMAN Homo sapiens coiled-coil domain containing 73 (CCDC73), mRNA. 131 NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(9)|lung(20)|ovary(2)|prostate(2)|skin(2)|stomach(1)|urinary_tract(2) 51 Breast(20;0.112) TATTTAGAAACCTTGAAAAAT 0.323000 31 13 0 0 0.000308642 0 0 PCDHGC5 56097 broad.mit.edu 37 5 140711004 140711005 + Missense_Mutation DNP CC TT TT TCGA-EE-A3AC-06A-11D-A196-08 TCGA-EE-A3AC-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 883d623b-c427-4444-9ee3-66d18648130f f8f00311-8db5-4187-bcb8-5054d9fbdac3 g.chr5:140711004_140711005CC>TT uc003lji.2 + 0 753_754 c.753_754CC>TT c.(751-756)gtcccc>gtTTcc p.P252S PCDHGC5_uc011dan.2_Missense_Mutation_p.P252S NM_018912 NP_061735 Q9Y5F6 PCDGM_HUMAN Homo sapiens protocadherin gamma subfamily A, 1 (PCDHGA1), transcript variant 1, mRNA. 252 Cadherin 3. homophilic cell adhesion integral to membrane|plasma membrane calcium ion binding breast(2)|central_nervous_system(2)|endometrium(6)|kidney(4)|large_intestine(4)|lung(10)|ovary(4)|prostate(1)|urinary_tract(2) 35 KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191) ATATAAATGTCCCCGAAAACGT 0.485000 35 22 0 0 6.4e-05 0 0 OR52I2 143502 broad.mit.edu 37 11 4608408 4608408 + Silent SNP C T T TCGA-EE-A3AC-06A-11D-A196-08 TCGA-EE-A3AC-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 883d623b-c427-4444-9ee3-66d18648130f f8f00311-8db5-4187-bcb8-5054d9fbdac3 g.chr11:4608408C>T uc010qyh.2 + 0 388 c.366C>T c.(364-366)atC>atT p.I122I NM_001005170 NP_001005170 Q8NH67 O52I2_HUMAN Homo sapiens olfactory receptor, family 52, subfamily I, member 2 (OR52I2), mRNA. 122 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity endometrium(3)|kidney(1)|large_intestine(2)|lung(11)|pancreas(1)|skin(1) 19 Medulloblastoma(188;0.0075)|Breast(177;0.0461)|all_neural(188;0.0577) Epithelial(150;8.45e-12)|BRCA - Breast invasive adenocarcinoma(625;0.0285)|LUSC - Lung squamous cell carcinoma(625;0.19) ACAGCTCAATCAGCTTTAGTG 0.502000 39 21 0 0 0.00188189 0 0 GPS2 2874 broad.mit.edu 37 17 7227268 7227268 + Missense_Mutation SNP G A A TCGA-EE-A3AC-06A-11D-A196-08 TCGA-EE-A3AC-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 883d623b-c427-4444-9ee3-66d18648130f f8f00311-8db5-4187-bcb8-5054d9fbdac3 g.chr17:7227268G>A uc002gga.1 - 11 2133 c.2126C>T c.(2125-2127)tCc>tTc p.S709F GPS2_uc002ggb.1_Missense_Mutation_p.S709F|GPS2_uc002ggc.1_Missense_Mutation_p.S55F NM_032442 NP_115818 Q13227 GPS2_HUMAN Homo sapiens neuralized homolog 4 (Drosophila) (NEURL4), transcript variant 1, mRNA. 0 JNK cascade|cell cycle|inactivation of MAPK activity|negative regulation of JNK cascade|negative regulation of transcription from RNA polymerase II promoter transcriptional repressor complex GTPase inhibitor activity|protein binding|transcription corepressor activity breast(1)|central_nervous_system(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(1)|ovary(2)|pancreas(1)|prostate(1)|stomach(1)|urinary_tract(4) 24 Prostate(122;0.157) GGCCCCTGAGGACGGAGAGCT 0.617000 OREG0024134 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 13 20 0 0 0.000375601 0 0 CRISP1 167 broad.mit.edu 37 6 49806193 49806193 + Silent SNP G A A TCGA-EE-A3AC-06A-11D-A196-08 TCGA-EE-A3AC-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 883d623b-c427-4444-9ee3-66d18648130f f8f00311-8db5-4187-bcb8-5054d9fbdac3 g.chr6:49806193G>A uc003ozw.2 - 6 658 c.579C>T c.(577-579)gtC>gtT p.V193V CRISP1_uc003ozx.2_Intron|CRISP1_uc021zaj.1_Silent_p.V193V NM_001131 NP_001192149 P54107 CRIS1_HUMAN Homo sapiens cysteine-rich secretory protein 1 (CRISP1), transcript variant 1, mRNA. 193 fusion of sperm to egg plasma membrane extracellular space p.V193V(2) endometrium(1)|kidney(2)|large_intestine(6)|lung(15)|skin(2)|upper_aerodigestive_tract(1) 27 Lung NSC(77;0.0358) CTTCACATGGGACGCCTGTCT 0.363000 59 23 0 0 0.000878237 0 0 HSD17B3 3293 broad.mit.edu 37 9 99013708 99013708 + Missense_Mutation SNP C T T TCGA-EE-A3AC-06A-11D-A196-08 TCGA-EE-A3AC-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 883d623b-c427-4444-9ee3-66d18648130f f8f00311-8db5-4187-bcb8-5054d9fbdac3 g.chr9:99013708C>T uc004awa.1 - 4 493 c.445G>A c.(445-447)Gaa>Aaa p.E149K HSD17B3_uc010msc.1_Missense_Mutation_p.E149K NM_000197 NP_000188 P37058 DHB3_HUMAN Homo sapiens hydroxysteroid (17-beta) dehydrogenase 3 (HSD17B3), mRNA. 149 androgen biosynthetic process|male genitalia development endoplasmic reticulum membrane|microsome binding|testosterone 17-beta-dehydrogenase (NAD+) activity|testosterone 17-beta-dehydrogenase (NADP+) activity breast(1)|endometrium(3)|large_intestine(2)|lung(3)|prostate(2)|skin(1)|upper_aerodigestive_tract(1) 13 Acute lymphoblastic leukemia(62;0.0171)|all_hematologic(171;0.214) NADH(DB00157) ACCTGGATTTCATCCGGTGCG 0.488000 31 25 0 0 0.000878237 0 0 ALPK2 115701 broad.mit.edu 37 18 56203320 56203320 + Missense_Mutation SNP C T T TCGA-EE-A3AC-06A-11D-A196-08 TCGA-EE-A3AC-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 883d623b-c427-4444-9ee3-66d18648130f f8f00311-8db5-4187-bcb8-5054d9fbdac3 g.chr18:56203320C>T uc002lhj.4 - 4 4313 c.4099G>A c.(4099-4101)Gaa>Aaa p.E1367K ALPK2_uc002lhk.1_Missense_Mutation_p.E698K NM_052947 NP_443179 Q86TB3 ALPK2_HUMAN Homo sapiens alpha-kinase 2 (ALPK2), mRNA. 1367 ATP binding|protein serine/threonine kinase activity NS(1)|central_nervous_system(3)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(13)|lung(33)|ovary(7)|prostate(1)|skin(10)|upper_aerodigestive_tract(2) 84 TTAACATTTTCCTTCCCTCCA 0.453000 50 38 0 0 0.000509022 0 0 DSG2 1829 broad.mit.edu 37 18 29122532 29122532 + Missense_Mutation SNP G A A TCGA-EE-A3AC-06A-11D-A196-08 TCGA-EE-A3AC-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 883d623b-c427-4444-9ee3-66d18648130f f8f00311-8db5-4187-bcb8-5054d9fbdac3 g.chr18:29122532G>A uc002kwu.4 + 13 2239 c.2051G>A c.(2050-2052)aGa>aAa p.R684K LOC100652770_uc002kwv.4_Intron NM_001943 NP_001934 Q14126 DSG2_HUMAN Homo sapiens desmoglein 2 (DSG2), mRNA. 684 cellular component disassembly involved in apoptosis|homophilic cell adhesion desmosome|integral to membrane calcium ion binding breast(2)|central_nervous_system(6)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(5)|lung(17)|ovary(2)|prostate(4)|skin(2)|urinary_tract(1) 49 OV - Ovarian serous cystadenocarcinoma(10;0.0068) CTAGTAGGAAGAAATGGAGTA 0.512000 26 24 0 0 0.000375601 0 0 FCGBP 8857 broad.mit.edu 37 19 40419872 40419873 + Missense_Mutation DNP CC TT TT TCGA-EE-A3AC-06A-11D-A196-08 TCGA-EE-A3AC-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 883d623b-c427-4444-9ee3-66d18648130f f8f00311-8db5-4187-bcb8-5054d9fbdac3 g.chr19:40419872_40419873CC>TT uc002omp.4 - 5 3129_3130 c.3121_3122GG>AA c.(3121-3123)gga>AAa p.G1041K NM_003890 NP_003881 Q9Y6R7 FCGBP_HUMAN Homo sapiens Fc fragment of IgG binding protein (FCGBP), mRNA. 1041 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) TTCAGTTGCTCCACAGCCGGGC 0.639000 26 17 0 0 6.4e-05 0 0 OR1J4 26219 broad.mit.edu 37 9 125281758 125281758 + Silent SNP C T T TCGA-EE-A3AC-06A-11D-A196-08 TCGA-EE-A3AC-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 883d623b-c427-4444-9ee3-66d18648130f f8f00311-8db5-4187-bcb8-5054d9fbdac3 g.chr9:125281758C>T uc011lyw.2 + 0 339 c.339C>T c.(337-339)ttC>ttT p.F113F NM_001004452 NP_001004452 Q8NGS1 OR1J4_HUMAN Homo sapiens olfactory receptor, family 1, subfamily J, member 4 (OR1J4), mRNA. 113 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity large_intestine(5)|lung(11)|skin(3)|upper_aerodigestive_tract(1) 20 TAGACAATTTCCTTCTCACTT 0.408000 42 42 0 0 0.00195071 0 0 ENG 2022 broad.mit.edu 37 9 130588123 130588123 + Silent SNP G A A TCGA-EE-A3AC-06A-11D-A196-08 TCGA-EE-A3AC-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 883d623b-c427-4444-9ee3-66d18648130f f8f00311-8db5-4187-bcb8-5054d9fbdac3 g.chr9:130588123G>A uc004bsj.4 - 4 953 c.540C>T c.(538-540)tcC>tcT p.S180S ENG_uc011mam.2_5'UTR|ENG_uc004bsk.4_Silent_p.S180S NM_001114753 NP_001108225 P17813 EGLN_HUMAN Homo sapiens endoglin (ENG), transcript variant 1, mRNA. 180 BMP signaling pathway|artery morphogenesis|cell adhesion|cell chemotaxis|central nervous system vasculogenesis|chronological cell aging|detection of hypoxia|extracellular matrix disassembly|heart looping|negative regulation of endothelial cell proliferation|negative regulation of nitric-oxide synthase activity|negative regulation of pathway-restricted SMAD protein phosphorylation|negative regulation of protein autophosphorylation|negative regulation of transcription from RNA polymerase II promoter|negative regulation of transforming growth factor beta receptor signaling pathway|patterning of blood vessels|positive regulation of BMP signaling pathway|positive regulation of pathway-restricted SMAD protein phosphorylation|positive regulation of systemic arterial blood pressure|positive regulation of transcription from RNA polymerase II promoter|regulation of cell adhesion|regulation of cell proliferation|regulation of transcription, DNA-dependent|regulation of transforming growth factor beta receptor signaling pathway|smooth muscle tissue development|transforming growth factor beta receptor signaling pathway|venous blood vessel morphogenesis|wound healing cell surface|external side of plasma membrane|extracellular space|membrane fraction activin binding|galactose binding|glycosaminoglycan binding|protein homodimerization activity|transforming growth factor beta binding|transforming growth factor beta receptor activity|transforming growth factor beta receptor, cytoplasmic mediator activity|transmembrane receptor activity|type I transforming growth factor beta receptor binding|type II transforming growth factor beta receptor binding breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|large_intestine(3)|lung(6)|ovary(1)|prostate(1) 17 GCATGCAGAAGGACAGTGACC 0.667000 Juvenile Polyposis;Hereditary Hemorrhagic Telangiectasia 3 3 0 0 0.000602214 0 0 EI24 9538 broad.mit.edu 37 11 125446179 125446179 + Nonsense_Mutation SNP C T T TCGA-EE-A3AC-06A-11D-A196-08 TCGA-EE-A3AC-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 883d623b-c427-4444-9ee3-66d18648130f f8f00311-8db5-4187-bcb8-5054d9fbdac3 g.chr11:125446179C>T uc009zbl.3 + 3 459 c.217C>T c.(217-219)Cag>Tag p.Q73* EI24_uc001qca.3_Nonsense_Mutation_p.Q73*|EI24_uc001qcb.3_Nonsense_Mutation_p.Q73*|EI24_uc010sbd.2_Non-coding_Transcript|EI24_uc010sbe.2_Nonsense_Mutation_p.Q59*|EI24_uc010sbf.2_Non-coding_Transcript NM_004879 NP_004870 O14681 EI24_HUMAN Homo sapiens etoposide induced 2.4 mRNA (EI24), transcript variant 1, mRNA. 73 apoptosis|autophagy|induction of apoptosis|negative regulation of cell growth endoplasmic reticulum membrane|integral to membrane|nuclear membrane large_intestine(1)|lung(9)|ovary(1) 11 all_hematologic(175;0.228) Breast(109;0.0021)|Lung NSC(97;0.0126)|all_lung(97;0.0132)|Medulloblastoma(222;0.0425)|all_neural(223;0.112) BRCA - Breast invasive adenocarcinoma(274;5.64e-07)|OV - Ovarian serous cystadenocarcinoma(99;0.0975) TAGAATTTTCCAGTGTTGTGC 0.358000 28 15 0 0 0.00121646 0 0 NOS3 4846 broad.mit.edu 37 7 150698429 150698429 + Silent SNP C T T TCGA-EE-A3AC-06A-11D-A196-08 TCGA-EE-A3AC-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 883d623b-c427-4444-9ee3-66d18648130f f8f00311-8db5-4187-bcb8-5054d9fbdac3 g.chr7:150698429C>T uc003wif.3 + 10 1640 c.1344C>T c.(1342-1344)atC>atT p.I448I NOS3_uc011kuy.2_Silent_p.I242I|NOS3_uc011kva.2_Silent_p.I448I|NOS3_uc011kuz.2_Silent_p.I448I|NOS3_uc011kvb.2_Silent_p.I448I NM_000603 NP_000594 P29474 NOS3_HUMAN Homo sapiens nitric oxide synthase 3 (endothelial cell) (NOS3), transcript variant 1, mRNA. 448 Interaction with NOSIP. anti-apoptosis|arginine catabolic process|blood vessel remodeling|endothelial cell migration|mitochondrion organization|negative regulation of muscle hyperplasia|negative regulation of platelet activation|nitric oxide biosynthetic process|platelet activation|positive regulation of angiogenesis|positive regulation of guanylate cyclase activity|positive regulation of vasodilation|regulation of blood vessel size|regulation of nitric-oxide synthase activity|regulation of systemic arterial blood pressure by endothelin|response to fluid shear stress|response to heat|smooth muscle hyperplasia Golgi membrane|caveola|cytoskeleton|cytosol FMN binding|NADP binding|actin monomer binding|arginine binding|cadmium ion binding|calmodulin binding|flavin adenine dinucleotide binding|heme binding|nitric-oxide synthase activity|tetrahydrobiopterin binding p.I448I(2) NS(3)|breast(3)|central_nervous_system(5)|endometrium(1)|kidney(4)|large_intestine(6)|liver(2)|lung(11)|ovary(3)|prostate(3)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1) 50 all_neural(206;0.219) OV - Ovarian serous cystadenocarcinoma(82;0.0121) UCEC - Uterine corpus endometrioid carcinoma (81;0.168) L-Arginine(DB00125)|L-Citrulline(DB00155)|Rosuvastatin(DB01098)|Tetrahydrobiopterin(DB00360) GGGCCTGGATCGTGCCCCCCA 0.622000 40 24 0 0 0.000375601 0 0 SPEF2 79925 broad.mit.edu 37 5 35771755 35771755 + Silent SNP A G G TCGA-EE-A3AC-06A-11D-A196-08 TCGA-EE-A3AC-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 883d623b-c427-4444-9ee3-66d18648130f f8f00311-8db5-4187-bcb8-5054d9fbdac3 g.chr5:35771755A>G uc003jjo.3 + 26 3957 c.3846A>G c.(3844-3846)gaA>gaG p.E1282E SPEF2_uc003jjp.1_Silent_p.E768E|SPEF2_uc003jjr.3_5'Flank NM_024867 NP_079143 Q9C093 SPEF2_HUMAN Homo sapiens sperm flagellar 2 (SPEF2), transcript variant 1, mRNA. 1282 nucleobase, nucleoside, nucleotide and nucleic acid metabolic process ATP binding|nucleobase, nucleoside, nucleotide kinase activity|protein dimerization activity breast(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(15)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(1) 37 all_lung(31;7.56e-05) Lung(74;0.111)|COAD - Colon adenocarcinoma(61;0.14)|Colorectal(62;0.202) AAGAAAAAGAAAACCAGCCAG 0.398000 13 13 0 0 0.000219431 0 0 ZNF45 7596 broad.mit.edu 37 19 44417609 44417609 + Missense_Mutation SNP C T T TCGA-EE-A3AC-06A-11D-A196-08 TCGA-EE-A3AC-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 883d623b-c427-4444-9ee3-66d18648130f f8f00311-8db5-4187-bcb8-5054d9fbdac3 g.chr19:44417609C>T uc002oxu.2 - 3 2078 c.1979G>A c.(1978-1980)cGa>cAa p.R660Q ZNF45_uc002oxw.2_Missense_Mutation_p.R660Q NM_003425 NP_003416 Q02386 ZNF45_HUMAN Homo sapiens zinc finger protein 45 (ZNF45), mRNA. 660 multicellular organismal development nucleoplasm DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding breast(1)|endometrium(2)|kidney(2)|large_intestine(2)|lung(4)|ovary(3)|skin(2)|upper_aerodigestive_tract(1) 17 AGCATGGACTCGCTGATGAAT 0.443000 29 25 0 0 0.000720815 0 0 ARMC12 221481 broad.mit.edu 37 6 35704966 35704966 + Silent SNP G A A TCGA-EE-A3AC-06A-11D-A196-08 TCGA-EE-A3AC-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 883d623b-c427-4444-9ee3-66d18648130f f8f00311-8db5-4187-bcb8-5054d9fbdac3 g.chr6:35704966G>A uc003ola.3 + 0 108 c.81G>A c.(79-81)gcG>gcA p.A27A FKBP5_uc010jvy.2_5'Flank|ARMC12_uc003olb.1_Silent_p.A27A NM_145028 NP_659465 Q5T9G4 CF081_HUMAN Homo sapiens armadillo repeat containing 12 (ARMC12), mRNA. 27 binding GCGCCGGGGCGATCTACCTGC 0.597000 OREG0017379 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 18 11 0 0 0.000978159 0 0 ZCCHC14 23174 broad.mit.edu 37 16 87451258 87451258 + Silent SNP A C C TCGA-EE-A3AC-06A-11D-A196-08 TCGA-EE-A3AC-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 883d623b-c427-4444-9ee3-66d18648130f f8f00311-8db5-4187-bcb8-5054d9fbdac3 g.chr16:87451258A>C uc002fjz.1 - 7 807 c.780T>G c.(778-780)ccT>ccG p.P260P ZCCHC14_uc002fka.1_Non-coding_Transcript|ZCCHC14_uc002fkb.3_Silent_p.P36P NM_015144 NP_055959 Q8WYQ9 ZCH14_HUMAN Homo sapiens zinc finger, CCHC domain containing 14 (ZCCHC14), mRNA. 260 cell communication nucleic acid binding|phosphatidylinositol binding|zinc ion binding breast(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(5)|lung(10)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(2) 36 BRCA - Breast invasive adenocarcinoma(80;0.0285) GGGAGCAGTGAGGCAAGGGGG 0.692000 51 32 0 0 0.00178596 0 0 RTN4R 65078 broad.mit.edu 37 22 20229843 20229843 + Silent SNP G A A TCGA-EE-A3AC-06A-11D-A196-08 TCGA-EE-A3AC-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 883d623b-c427-4444-9ee3-66d18648130f f8f00311-8db5-4187-bcb8-5054d9fbdac3 g.chr22:20229843G>A uc002zrv.3 - 1 1014 c.813C>T c.(811-813)ctC>ctT p.L271L RTN4R_uc002zru.3_Silent_p.L43L NM_023004 NP_075380 Q9BZR6 RTN4R_HUMAN Homo sapiens reticulon 4 receptor (RTN4R), mRNA. 271 LRRCT. axonogenesis|negative regulation of axonogenesis|nerve growth factor receptor signaling pathway anchored to membrane|cell surface|endoplasmic reticulum|plasma membrane protein binding|receptor activity lung(1)|ovary(1)|prostate(1) 3 Colorectal(54;0.0993) GCCAGGCCCAGAGTGGGCGTG 0.682000 13 11 0 0 0.00185496 0 0 HCFC2 29915 broad.mit.edu 37 12 104497010 104497010 + Missense_Mutation SNP C T T TCGA-EE-A3AC-06A-11D-A196-08 TCGA-EE-A3AC-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 883d623b-c427-4444-9ee3-66d18648130f f8f00311-8db5-4187-bcb8-5054d9fbdac3 g.chr12:104497010C>T uc001tkj.4 + 14 2441 c.2338C>T c.(2338-2340)Cgg>Tgg p.R780W HCFC2_uc009zul.3_Non-coding_Transcript NM_013320 NP_037452 Q9Y5Z7 HCFC2_HUMAN Homo sapiens host cell factor C2 (HCFC2), mRNA. 780 Fibronectin type-III 3. regulation of transcription from RNA polymerase II promoter|viral reproduction cytoplasm|nucleus transcription coactivator activity p.R780W(2) breast(3)|central_nervous_system(1)|endometrium(4)|large_intestine(6)|lung(14)|ovary(3)|prostate(2)|skin(1)|upper_aerodigestive_tract(1) 35 TACACAAGTTCGGTGGCTTCA 0.358000 43 25 0 0 0.000586117 0 0 IL12A 3592 broad.mit.edu 37 3 159708099 159708099 + Splice_Site SNP G A A TCGA-EE-A3AC-06A-11D-A196-08 TCGA-EE-A3AC-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 883d623b-c427-4444-9ee3-66d18648130f f8f00311-8db5-4187-bcb8-5054d9fbdac3 g.chr3:159708099G>A uc003fcx.3 + 2 485 c.264_splice c.e2+1 p.K88_splice AK097161_uc003fcw.1_Intron NM_000882 NP_000873 P29459 IL12A_HUMAN Homo sapiens interleukin 12A (natural killer cell stimulatory factor 1, cytotoxic lymphocyte maturation factor 1, p35) (IL12A), mRNA. 54 cell cycle arrest|cell migration|defense response to Gram-positive bacterium|immune response|negative regulation of interleukin-17 production|negative regulation of smooth muscle cell proliferation|positive regulation of NK T cell activation|positive regulation of T cell mediated cytotoxicity|positive regulation of cell adhesion|positive regulation of interferon-gamma production|positive regulation of natural killer cell activation|positive regulation of natural killer cell mediated cytotoxicity directed against tumor cell target|positive regulation of smooth muscle cell apoptosis|positive regulation of tyrosine phosphorylation of Stat4 protein|response to UV-B|response to lipopolysaccharide|response to virus interleukin-12 complex cytokine activity|growth factor activity|interleukin-12 receptor binding|interleukin-27 binding|protein heterodimerization activity endometrium(3)|kidney(1)|large_intestine(1)|lung(4) 9 Lung(72;0.00334)|LUSC - Lung squamous cell carcinoma(72;0.00523) TGCTCCAGAAGGTGAGCCTTT 0.587000 21 20 0 0 0.00047179 0 0 NCLN 56926 broad.mit.edu 37 19 3207467 3207467 + Splice_Site SNP G A A TCGA-EE-A3AC-06A-11D-A196-08 TCGA-EE-A3AC-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 883d623b-c427-4444-9ee3-66d18648130f f8f00311-8db5-4187-bcb8-5054d9fbdac3 g.chr19:3207467G>A uc002lxi.3 + 14 1786 c.1632_splice c.e14+1 p.Q544_splice NCLN_uc002lxh.1_Splice_Site|NCLN_uc002lxj.1_Splice_Site|NCLN_uc002lxk.3_Splice_Site_p.Q188_splice NM_020170 NP_064555 Q969V3 NCLN_HUMAN Homo sapiens nicalin (NCLN), mRNA. 544 proteolysis|regulation of signal transduction endoplasmic reticulum membrane|integral to membrane|nucleus peptidase activity|protein binding kidney(1)|lung(3)|skin(1) 5 Hepatocellular(1079;0.137) UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.83e-113)|Epithelial(107;1.65e-111)|all cancers(105;1.53e-103)|BRCA - Breast invasive adenocarcinoma(158;0.00139)|STAD - Stomach adenocarcinoma(1328;0.18) TGGCTGTCCAGGTGAGCAGTG 0.667000 41 31 0 0 0.000491102 0 0 CACNA1E 777 broad.mit.edu 37 1 181687222 181687222 + Silent SNP C T T TCGA-EE-A3AC-06A-11D-A196-08 TCGA-EE-A3AC-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 883d623b-c427-4444-9ee3-66d18648130f f8f00311-8db5-4187-bcb8-5054d9fbdac3 g.chr1:181687222C>T uc009wxt.3 + 11 1752 c.1557C>T c.(1555-1557)ttC>ttT p.F519F CACNA1E_uc001gow.3_Silent_p.F519F|CACNA1E_uc009wxs.3_Silent_p.F519F NM_001205293 NP_001192222 Q15878 CAC1E_HUMAN Homo sapiens calcium channel, voltage-dependent, R type, alpha 1E subunit (CACNA1E), transcript variant 1, mRNA. 519 energy reserve metabolic process|membrane depolarization|synaptic transmission voltage-gated calcium channel complex voltage-gated calcium channel activity NS(2)|breast(9)|central_nervous_system(3)|cervix(1)|endometrium(22)|haematopoietic_and_lymphoid_tissue(6)|kidney(4)|large_intestine(34)|lung(99)|ovary(6)|pancreas(1)|prostate(9)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2) 204 TGGGACTCTTCCTCTTGGAGA 0.463000 28 10 0 0 0.000442599 0 0 LOC649330 649330 broad.mit.edu 37 1 12907288 12907288 + Silent SNP G A A TCGA-EE-A3AC-06A-11D-A196-08 TCGA-EE-A3AC-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 883d623b-c427-4444-9ee3-66d18648130f f8f00311-8db5-4187-bcb8-5054d9fbdac3 g.chr1:12907288G>A uc010obf.2 - 1 1081 c.855C>T c.(853-855)gaC>gaT p.D285D LOC649330_uc009vno.2_Silent_p.D285D NM_001013631 NP_001013653 B7ZW38 B7ZW38_HUMAN Homo sapiens heterogeneous nuclear ribonucleoprotein C-like 1 (HNRNPCL1), mRNA. 285 nucleic acid binding|nucleotide binding CATTGGTGCTGTCTCTGTCAT 0.438000 133 49 0 0 0.000781405 0 0 GRXCR2 643226 broad.mit.edu 37 5 145246220 145246220 + Missense_Mutation SNP C T T TCGA-EE-A3AC-06A-11D-A196-08 TCGA-EE-A3AC-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 883d623b-c427-4444-9ee3-66d18648130f f8f00311-8db5-4187-bcb8-5054d9fbdac3 g.chr5:145246220C>T uc003lns.1 - 1 408 c.408G>A c.(406-408)atG>atA p.M136I NM_001080516 NP_001073985 A6NFK2 GRCR2_HUMAN Homo sapiens glutaredoxin, cysteine rich 2 (GRXCR2), mRNA. 136 breast(1)|endometrium(1)|large_intestine(2)|lung(1)|urinary_tract(2) 7 CTCTCTTGTCCATTGGGGTTC 0.418000 37 23 0 0 0.000375601 0 0 RDH16 8608 broad.mit.edu 37 12 57351000 57351000 + Missense_Mutation SNP C T T TCGA-EE-A3AC-06A-11D-A196-08 TCGA-EE-A3AC-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 883d623b-c427-4444-9ee3-66d18648130f f8f00311-8db5-4187-bcb8-5054d9fbdac3 g.chr12:57351000C>T uc001smi.4 - 0 419 c.247G>A c.(247-249)Gat>Aat p.D83N RDH16_uc009zpa.3_Missense_Mutation_p.G24E NM_003708 NP_003699 O75452 RDH16_HUMAN Homo sapiens retinol dehydrogenase 16 (all-trans) (RDH16), mRNA. 83 lipid metabolic process endoplasmic reticulum membrane|integral to membrane|microsome binding|electron carrier activity|retinol dehydrogenase activity haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(9) 16 TTGGTAACATCCAGGGTCACC 0.592000 31 29 0 0 0.0024448 0 0 TMEM208 29100 broad.mit.edu 37 16 67262721 67262721 + Silent SNP A G G TCGA-EE-A3AC-06A-11D-A196-08 TCGA-EE-A3AC-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 883d623b-c427-4444-9ee3-66d18648130f f8f00311-8db5-4187-bcb8-5054d9fbdac3 g.chr16:67262721A>G uc002esi.2 + 4 427 c.321A>G c.(319-321)ctA>ctG p.L107L LRRC29_uc002ese.3_5'Flank|LRRC29_uc002esf.3_5'Flank|LRRC29_uc002esg.3_5'Flank|LRRC29_uc010vjg.2_5'Flank|TMEM208_uc002esj.2_Non-coding_Transcript NM_014187 NP_054906 Q9BTX3 TM208_HUMAN Homo sapiens transmembrane protein 208 (TMEM208), mRNA. 107 integral to membrane breast(1)|kidney(2)|lung(1)|upper_aerodigestive_tract(1) 5 Ovarian(137;0.0563) OV - Ovarian serous cystadenocarcinoma(108;0.00067)|Epithelial(162;0.00442)|all cancers(182;0.0417) ATGTGATCCTACTGACAGCCA 0.527000 55 33 0 0 0.000953801 0 0 IFNGR1 3459 broad.mit.edu 37 6 137519694 137519694 + Missense_Mutation SNP G A A TCGA-EE-A3AC-06A-11D-A196-08 TCGA-EE-A3AC-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 883d623b-c427-4444-9ee3-66d18648130f f8f00311-8db5-4187-bcb8-5054d9fbdac3 g.chr6:137519694G>A uc003qho.2 - 6 1047 c.944C>T c.(943-945)tCc>tTc p.S315F IFNGR1_uc011edm.1_Missense_Mutation_p.S287F NM_000416 NP_000407 P15260 INGR1_HUMAN Homo sapiens interferon gamma receptor 1 (IFNGR1), mRNA. 315 regulation of interferon-gamma-mediated signaling pathway|response to virus integral to plasma membrane interferon-gamma receptor activity central_nervous_system(1)|kidney(3)|large_intestine(3)|lung(9)|skin(1)|upper_aerodigestive_tract(1) 18 Colorectal(23;0.24) GBM - Glioblastoma multiforme(68;0.000829)|OV - Ovarian serous cystadenocarcinoma(155;0.00389) Interferon gamma-1b(DB00033) CTTTTCTAAGGAAAATGGCTG 0.423000 6 8 0 0 0.000157383 0 0 MLL2 8085 broad.mit.edu 37 12 49425489 49425489 + Silent SNP C T T TCGA-EE-A3AC-06A-11D-A196-08 TCGA-EE-A3AC-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 883d623b-c427-4444-9ee3-66d18648130f f8f00311-8db5-4187-bcb8-5054d9fbdac3 g.chr12:49425489C>T uc001rta.4 - 38 12999 c.12999G>A c.(12997-12999)gaG>gaA p.E4333E NM_003482 NP_003473 O14686 MLL2_HUMAN Homo sapiens myeloid/lymphoid or mixed-lineage leukemia 2 (MLL2), mRNA. 4333 Pro-rich. chromatin silencing|histone H3-K4 methylation|oocyte growth|positive regulation of cell proliferation|positive regulation of estrogen receptor signaling pathway|positive regulation of transcription from RNA polymerase II promoter|response to estrogen stimulus|transcription, DNA-dependent histone methyltransferase complex histone-lysine N-methyltransferase activity|protein binding|transcription regulatory region DNA binding|zinc ion binding NS(1)|breast(4)|central_nervous_system(38)|cervix(3)|endometrium(22)|haematopoietic_and_lymphoid_tissue(121)|kidney(35)|large_intestine(22)|lung(78)|ovary(3)|pancreas(2)|prostate(13)|skin(7)|stomach(3)|upper_aerodigestive_tract(9)|urinary_tract(5) 366 GGAGCTGGGCCTCAGTGGGAA 0.637000 """N, F, Mis""" """medulloblastoma, renal""" HNSCC(34;0.089) 17 7 0 0 0.000157383 0 0 ACSBG2 81616 broad.mit.edu 37 19 6151757 6151757 + Missense_Mutation SNP T C C TCGA-EE-A3AC-06A-11D-A196-08 TCGA-EE-A3AC-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 883d623b-c427-4444-9ee3-66d18648130f f8f00311-8db5-4187-bcb8-5054d9fbdac3 g.chr19:6151757T>C uc002mef.1 + 3 564 c.337T>C c.(337-339)Ttt>Ctt p.F113L ACSBG2_uc002mee.1_5'UTR|ACSBG2_uc002meg.1_Missense_Mutation_p.F113L|ACSBG2_uc002meh.1_Missense_Mutation_p.F113L|ACSBG2_uc002mei.1_Missense_Mutation_p.F63L|ACSBG2_uc010xiz.1_Missense_Mutation_p.F113L NM_030924 NP_112186 Q5FVE4 ACBG2_HUMAN Homo sapiens acyl-CoA synthetase bubblegum family member 2 (ACSBG2), mRNA. 113 cell differentiation|fatty acid metabolic process|multicellular organismal development|spermatogenesis membrane|microsome|mitochondrion ATP binding|acyl-CoA thioesterase activity|long-chain fatty acid-CoA ligase activity breast(1)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(12)|lung(3)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1) 39 TATCCTGGGGTTTAACTCTGC 0.478000 9 6 0 0 0.000157383 0 0 ZBBX 79740 broad.mit.edu 37 3 167023676 167023676 + Missense_Mutation SNP C T T TCGA-EE-A3AC-06A-11D-A196-08 TCGA-EE-A3AC-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 883d623b-c427-4444-9ee3-66d18648130f f8f00311-8db5-4187-bcb8-5054d9fbdac3 g.chr3:167023676C>T uc011bpc.2 - 16 1817 c.1480G>A c.(1480-1482)Gaa>Aaa p.E494K ZBBX_uc003feq.3_Missense_Mutation_p.E465K|ZBBX_uc003fep.3_Missense_Mutation_p.E494K NM_001199201 NP_001186130 A8MT70 ZBBX_HUMAN Homo sapiens zinc finger, B-box domain containing (ZBBX), transcript variant 1, mRNA. 494 intracellular zinc ion binding p.I493F(1) NS(1)|breast(1)|endometrium(5)|kidney(5)|large_intestine(9)|liver(1)|lung(38)|ovary(2)|prostate(1)|skin(4)|stomach(2)|upper_aerodigestive_tract(1) 70 TCAATTTTTTCAATGTCAGAA 0.318000 11 12 0 0 0.000308642 0 0 CCDC88C 440193 broad.mit.edu 37 14 91779427 91779427 + Silent SNP C T T TCGA-EE-A3AC-06A-11D-A196-08 TCGA-EE-A3AC-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 883d623b-c427-4444-9ee3-66d18648130f f8f00311-8db5-4187-bcb8-5054d9fbdac3 g.chr14:91779427C>T uc010aty.3 - 14 2887 c.2733G>A c.(2731-2733)agG>agA p.R911R NM_001080414 NP_001073883 Q9P219 DAPLE_HUMAN Homo sapiens coiled-coil domain containing 88C (CCDC88C), mRNA. 911 Wnt receptor signaling pathway|microtubule cytoskeleton organization|protein destabilization|protein homooligomerization|regulation of protein phosphorylation cytoplasm|insoluble fraction PDZ domain binding|microtubule binding|protein self-association central_nervous_system(3)|endometrium(2)|kidney(3)|large_intestine(2)|lung(6)|ovary(6)|pancreas(1)|urinary_tract(1) 24 all_cancers(154;0.0468) TGCTCACCTCCCTCAGAGTTG 0.572000 16 9 0 0 0.000274275 0 0 DNAH5 1767 broad.mit.edu 37 5 13901544 13901544 + Silent SNP G A A TCGA-EE-A3AC-06A-11D-A196-08 TCGA-EE-A3AC-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 883d623b-c427-4444-9ee3-66d18648130f f8f00311-8db5-4187-bcb8-5054d9fbdac3 g.chr5:13901544G>A uc003jfd.2 - 13 1911 c.1869C>T c.(1867-1869)atC>atT p.I623I NM_001369 NP_001360 Q8TE73 DYH5_HUMAN Homo sapiens dynein, axonemal, heavy chain 5 (DNAH5), mRNA. 623 Stem (By similarity). microtubule-based movement cilium axoneme|cytoplasm|microtubule ATP binding|ATPase activity|microtubule motor activity NS(6)|breast(14)|central_nervous_system(4)|cervix(2)|endometrium(23)|haematopoietic_and_lymphoid_tissue(8)|kidney(11)|large_intestine(85)|liver(1)|lung(129)|ovary(16)|pancreas(2)|prostate(5)|skin(48)|stomach(5)|upper_aerodigestive_tract(11)|urinary_tract(8) 378 Lung NSC(4;0.00476) TCTTTCCAGCGATGGGAGGCT 0.502000 Kartagener syndrome 22 10 0 0 0.000442599 0 0 PTPRN2 5799 broad.mit.edu 37 7 157959842 157959842 + Missense_Mutation SNP G A A TCGA-EE-A3AC-06A-11D-A196-08 TCGA-EE-A3AC-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 883d623b-c427-4444-9ee3-66d18648130f f8f00311-8db5-4187-bcb8-5054d9fbdac3 g.chr7:157959842G>A uc003wno.3 - 5 812 c.691C>T c.(691-693)Cct>Tct p.P231S PTPRN2_uc003wnp.3_Missense_Mutation_p.P214S|PTPRN2_uc003wnq.3_Missense_Mutation_p.P231S|PTPRN2_uc003wnr.3_Missense_Mutation_p.P193S|PTPRN2_uc011kwa.2_Missense_Mutation_p.P254S NM_002847 NP_002838 Q92932 PTPR2_HUMAN Homo sapiens protein tyrosine phosphatase, receptor type, N polypeptide 2 (PTPRN2), transcript variant 1, mRNA. 231 integral to plasma membrane protein binding|transmembrane receptor protein tyrosine phosphatase activity NS(1)|breast(1)|central_nervous_system(1)|cervix(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(11)|liver(1)|lung(42)|ovary(4)|pleura(1)|prostate(2)|skin(10)|upper_aerodigestive_tract(1) 86 all_neural(206;0.181) all_cancers(7;8.99e-13)|all_epithelial(9;2.4e-06)|all_hematologic(28;0.0155)|Breast(660;0.132) OV - Ovarian serous cystadenocarcinoma(82;0.00463) STAD - Stomach adenocarcinoma(7;0.0875) TCCACCTTAGGGCTGAGCTCA 0.697000 29 14 0 0 0.000422831 0 0 ALX3 257 broad.mit.edu 37 1 110604186 110604186 + Splice_Site SNP C T T TCGA-EE-A3AC-06A-11D-A196-08 TCGA-EE-A3AC-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 883d623b-c427-4444-9ee3-66d18648130f f8f00311-8db5-4187-bcb8-5054d9fbdac3 g.chr1:110604186C>T uc001dzb.3 - 3 683 c.595_splice c.e3-1 p.V199_splice NM_006492 NP_006483 O95076 ALX3_HUMAN Homo sapiens ALX homeobox 3 (ALX3), mRNA. 199 nucleus sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity large_intestine(1)|lung(3)|skin(1)|upper_aerodigestive_tract(1) 6 all_cancers(81;2.35e-05)|all_epithelial(167;7.69e-06)|all_lung(203;0.000116)|Lung NSC(277;0.000233) Lung(183;0.015)|all cancers(265;0.0706)|Epithelial(280;0.0758)|Colorectal(144;0.113)|LUSC - Lung squamous cell carcinoma(189;0.135) GGAACCAGACCTGGGGGCAGG 0.612000 33 10 0 0 0.000673444 0 0 STAB2 55576 broad.mit.edu 37 12 104044327 104044327 + Missense_Mutation SNP C T T TCGA-EE-A3AC-06A-11D-A196-08 TCGA-EE-A3AC-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 883d623b-c427-4444-9ee3-66d18648130f f8f00311-8db5-4187-bcb8-5054d9fbdac3 g.chr12:104044327C>T uc001tjw.3 + 10 1414 c.1228C>T c.(1228-1230)Cct>Tct p.P410S NM_017564 NP_060034 Q8WWQ8 STAB2_HUMAN Homo sapiens stabilin 2 (STAB2), mRNA. 410 FAS1 1. angiogenesis|cell adhesion|defense response to bacterium|receptor-mediated endocytosis cytoplasm|external side of plasma membrane|integral to plasma membrane Gram-negative bacterial cell surface binding|hyaluronic acid binding|low-density lipoprotein receptor activity|protein disulfide oxidoreductase activity|scavenger receptor activity NS(4)|breast(7)|central_nervous_system(1)|cervix(1)|endometrium(15)|kidney(11)|large_intestine(26)|lung(77)|ovary(10)|pancreas(1)|prostate(5)|skin(14)|stomach(2) 174 GGTGCTGTTACCTACAGACAA 0.428000 24 16 0 0 0.00121646 0 0 PRR23A 729627 broad.mit.edu 37 3 138724463 138724463 + Silent SNP G A A TCGA-EE-A3AC-06A-11D-A196-08 TCGA-EE-A3AC-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 883d623b-c427-4444-9ee3-66d18648130f f8f00311-8db5-4187-bcb8-5054d9fbdac3 g.chr3:138724463G>A uc011bms.2 - 0 648 c.648C>T c.(646-648)ttC>ttT p.F216F NM_001134659 NP_001128131 A6NEV1 PR23A_HUMAN Homo sapiens proline rich 23A (PRR23A), mRNA. 216 Pro-rich. endometrium(3)|kidney(1)|lung(7) 11 ATTCCGGGTCGAAGAAGGGGC 0.662000 11 6 0 0 0.000157383 0 0 WNK2 65268 broad.mit.edu 37 9 96024118 96024118 + Missense_Mutation SNP C T T TCGA-EE-A3AC-06A-11D-A196-08 TCGA-EE-A3AC-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 883d623b-c427-4444-9ee3-66d18648130f f8f00311-8db5-4187-bcb8-5054d9fbdac3 g.chr9:96024118C>T uc004ati.1 + 11 3089 c.3089C>T c.(3088-3090)cCc>cTc p.P1030L WNK2_uc011lud.1_Missense_Mutation_p.P1030L|WNK2_uc004atj.3_Missense_Mutation_p.P1030L|WNK2_uc004atk.3_Missense_Mutation_p.P667L NM_006648 NP_006639 Q9Y3S1 WNK2_HUMAN Homo sapiens WNK lysine deficient protein kinase 2 (WNK2), mRNA. 1030 intracellular protein kinase cascade ATP binding|protein binding|protein serine/threonine kinase activity breast(2)|central_nervous_system(1)|endometrium(11)|kidney(4)|large_intestine(5)|lung(17)|ovary(2)|prostate(3)|skin(4)|stomach(3)|upper_aerodigestive_tract(2) 54 CACCCAGCTCCCTATGCTGTG 0.701000 39 31 0 0 0.00128727 0 0 KIAA1804 84451 broad.mit.edu 37 1 233482261 233482261 + Silent SNP G A A TCGA-EE-A3AC-06A-11D-A196-08 TCGA-EE-A3AC-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 883d623b-c427-4444-9ee3-66d18648130f f8f00311-8db5-4187-bcb8-5054d9fbdac3 g.chr1:233482261G>A uc001hvt.4 + 1 1140 c.879G>A c.(877-879)gcG>gcA p.A293A KIAA1804_uc001hvs.1_Silent_p.A293A NM_032435 NP_115811 Q5TCX8 M3KL4_HUMAN Homo sapiens mixed lineage kinase 4 (KIAA1804), mRNA. 293 Protein kinase. activation of JUN kinase activity|protein autophosphorylation ATP binding|MAP kinase kinase kinase activity|protein homodimerization activity p.A293V(1) NS(1)|breast(1)|central_nervous_system(2)|endometrium(5)|large_intestine(18)|lung(15)|ovary(1)|prostate(2)|skin(3)|stomach(4) 52 all_cancers(173;0.000405)|all_epithelial(177;0.0345)|Prostate(94;0.122) TTGGGTTGGCGAGGGAATGGC 0.428000 35 17 0 0 0.000958276 0 0 RBP4 5950 broad.mit.edu 37 10 95360193 95360193 + Silent SNP G A A TCGA-EE-A3AC-06A-11D-A196-08 TCGA-EE-A3AC-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 883d623b-c427-4444-9ee3-66d18648130f f8f00311-8db5-4187-bcb8-5054d9fbdac3 g.chr10:95360193G>A uc001kit.3 - 3 396 c.312C>T c.(310-312)ttC>ttT p.F104F NM_006744 NP_006735 P02753 RET4_HUMAN Homo sapiens retinol binding protein 4, plasma (RBP4), mRNA. 104 cardiac muscle tissue development|embryonic organ morphogenesis|embryonic retina morphogenesis in camera-type eye|embryonic skeletal system development|female genitalia morphogenesis|gluconeogenesis|glucose homeostasis|heart trabecula formation|lung development|maintenance of gastrointestinal epithelium|negative regulation of cardiac muscle cell proliferation|positive regulation of immunoglobulin secretion|positive regulation of insulin secretion|response to retinoic acid|retinol metabolic process|urinary bladder development|uterus development|vagina development extracellular space protein binding|retinal binding|retinol binding large_intestine(1)|lung(3)|skin(1) 5 Colorectal(252;0.122) Vitamin A(DB00162) ACTTCATCTTGAACTTGGCAG 0.577000 59 27 0 0 0.00058488 0 0 PRMT7 54496 broad.mit.edu 37 16 68349951 68349951 + Silent SNP C T T TCGA-EE-A3AC-06A-11D-A196-08 TCGA-EE-A3AC-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 883d623b-c427-4444-9ee3-66d18648130f f8f00311-8db5-4187-bcb8-5054d9fbdac3 g.chr16:68349951C>T uc002evy.2 + 2 413 c.69C>T c.(67-69)caC>caT p.H23H PRMT7_uc010vlg.2_Silent_p.H23H NM_019023 NP_061896 Q9NVM4 ANM7_HUMAN Homo sapiens protein arginine methyltransferase 7 (PRMT7), transcript variant 1, mRNA. 23 DNA methylation involved in gamete generation|cell differentiation|regulation of gene expression by genetic imprinting|regulation of transcription, DNA-dependent|spliceosomal snRNP assembly|transcription, DNA-dependent cytosol|nucleus [myelin basic protein]-arginine N-methyltransferase activity|histone methyltransferase activity (H4-R3 specific)|protein-arginine omega-N monomethyltransferase activity|protein-arginine omega-N symmetric methyltransferase activity|ribonucleoprotein binding endometrium(3)|kidney(2)|large_intestine(3)|lung(10)|pancreas(1)|urinary_tract(1) 20 Ovarian(137;0.192) OV - Ovarian serous cystadenocarcinoma(108;0.0155)|Epithelial(162;0.0629) AGGATGAACACTATGATTACC 0.552000 59 29 0 0 0.001512 0 0 TRIM55 84675 broad.mit.edu 37 8 67066387 67066387 + Missense_Mutation SNP G A A TCGA-EE-A3AC-06A-11D-A196-08 TCGA-EE-A3AC-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 883d623b-c427-4444-9ee3-66d18648130f f8f00311-8db5-4187-bcb8-5054d9fbdac3 g.chr8:67066387G>A uc003xvv.3 + 8 1568 c.1342G>A c.(1342-1344)Ggc>Agc p.G448S TRIM55_uc003xvu.3_Missense_Mutation_p.G448S|TRIM55_uc003xvw.3_Intron|TRIM55_uc003xvx.3_Intron NM_184085 NP_908973 Q9BYV6 TRI55_HUMAN Homo sapiens tripartite motif containing 55 (TRIM55), transcript variant 1, mRNA. 448 cytoplasm|microtubule|nucleus signal transducer activity|zinc ion binding breast(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|lung(13)|ovary(1)|prostate(2)|skin(6)|upper_aerodigestive_tract(2) 39 Lung NSC(129;0.138)|all_lung(136;0.221) Epithelial(68;0.0136)|all cancers(69;0.0582)|BRCA - Breast invasive adenocarcinoma(89;0.0628)|OV - Ovarian serous cystadenocarcinoma(28;0.0904) TTGGTATAAAGGCCAAACCCG 0.552000 30 16 0 0 0.000422831 0 0 NT5C1A 84618 broad.mit.edu 37 1 40131882 40131882 + Silent SNP G A A TCGA-EE-A3AC-06A-11D-A196-08 TCGA-EE-A3AC-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 883d623b-c427-4444-9ee3-66d18648130f f8f00311-8db5-4187-bcb8-5054d9fbdac3 g.chr1:40131882G>A uc001cdq.1 - 1 162 c.162C>T c.(160-162)atC>atT p.I54I NM_032526 NP_115915 Q9BXI3 5NT1A_HUMAN Homo sapiens 5'-nucleotidase, cytosolic IA (NT5C1A), mRNA. 54 purine base metabolic process|purine nucleotide catabolic process|pyrimidine base metabolic process|pyrimidine nucleoside catabolic process cytosol 5'-nucleotidase activity|magnesium ion binding|nucleotide binding breast(1)|large_intestine(3)|lung(7)|ovary(2)|prostate(2) 15 Lung NSC(20;3.81e-06)|Ovarian(52;0.00769)|all_hematologic(146;0.0501)|Acute lymphoblastic leukemia(166;0.074) Myeloproliferative disorder(586;0.0393) OV - Ovarian serous cystadenocarcinoma(33;1.87e-18)|Epithelial(16;4.3e-17)|all cancers(16;8.48e-16)|LUSC - Lung squamous cell carcinoma(16;0.000261)|Lung(16;0.000457) AGGACACAGCGATGGTGACTG 0.587000 24 8 0 0 0.000673444 0 0 COL1A1 1277 broad.mit.edu 37 17 48267367 48267367 + Missense_Mutation SNP G A A TCGA-EE-A3AC-06A-11D-A196-08 TCGA-EE-A3AC-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 883d623b-c427-4444-9ee3-66d18648130f f8f00311-8db5-4187-bcb8-5054d9fbdac3 g.chr17:48267367G>A uc002iqm.3 - 35 2680 c.2554C>T c.(2554-2556)Ccc>Tcc p.P852S NM_000088 NP_000079 P02452 CO1A1_HUMAN Homo sapiens collagen, type I, alpha 1 (COL1A1), mRNA. 852 Triple-helical region. axon guidance|blood vessel development|collagen biosynthetic process|collagen fibril organization|embryonic skeletal system development|leukocyte migration|platelet activation|positive regulation of canonical Wnt receptor signaling pathway|positive regulation of cell migration|positive regulation of epithelial to mesenchymal transition|positive regulation of transcription, DNA-dependent|protein localization to nucleus|sensory perception of sound|skin morphogenesis|tooth mineralization|visual perception collagen type I|extracellular space|plasma membrane identical protein binding|platelet-derived growth factor binding COL1A1/PDGFB(429) NS(1)|breast(3)|central_nervous_system(8)|endometrium(3)|kidney(4)|large_intestine(17)|liver(3)|lung(18)|ovary(1)|pancreas(1)|prostate(4)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(1) 71 Collagenase(DB00048)|Palifermin(DB00039) CTCACAATGGGGCCAGGGGGT 0.652000 T """PDGFB, USP6""" """dermatofibrosarcoma protuberans, aneurysmal bone cyst """ Osteogenesis imperfecta 65 37 0 0 0.00195071 0 0 SLC1A1 6505 broad.mit.edu 37 9 4585316 4585316 + Missense_Mutation SNP C T T TCGA-EE-A3AC-06A-11D-A196-08 TCGA-EE-A3AC-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 883d623b-c427-4444-9ee3-66d18648130f f8f00311-8db5-4187-bcb8-5054d9fbdac3 g.chr9:4585316C>T uc003zij.2 + 11 1586 c.1333C>T c.(1333-1335)Cgg>Tgg p.R445W SPATA6L_uc003zik.3_Intron NM_004170 NP_004161 P43005 EAA3_HUMAN Homo sapiens solute carrier family 1 (neuronal/epithelial high affinity glutamate transporter, system Xag), member 1 (SLC1A1), mRNA. 445 D-aspartate import|L-glutamate import|synaptic transmission integral to plasma membrane|membrane fraction high-affinity glutamate transmembrane transporter activity|sodium:dicarboxylate symporter activity endometrium(1)|kidney(1)|large_intestine(7)|lung(4)|pancreas(1)|skin(1) 15 Acute lymphoblastic leukemia(2;0.0359)|Breast(48;0.0457) GBM - Glioblastoma multiforme(50;0.0124)|Lung(218;0.183) L-Aspartic Acid(DB00128)|L-Glutamic Acid(DB00142) CCCCAGGGACCGGTTCAGGAC 0.507000 37 30 0 0 0.000491102 0 0 SERPINB2 5055 broad.mit.edu 37 18 61597398 61597398 + Missense_Mutation SNP G A A TCGA-EE-A3AC-06A-11D-A196-08 TCGA-EE-A3AC-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 883d623b-c427-4444-9ee3-66d18648130f f8f00311-8db5-4187-bcb8-5054d9fbdac3 g.chr18:61597398G>A uc010xev.2 + 5 700 c.610G>A c.(610-612)Gaa>Aaa p.E204K SERPINB2_uc010xew.2_Missense_Mutation_p.E204K NM_005024 NP_005015 P05120 PAI2_HUMAN Homo sapiens serpin peptidase inhibitor, clade B (ovalbumin), member 10 (SERPINB10), mRNA. 219 anti-apoptosis|blood coagulation|fibrinolysis|regulation of proteolysis Golgi apparatus|extracellular space|plasma membrane serine-type endopeptidase inhibitor activity NS(1)|central_nervous_system(2)|endometrium(4)|large_intestine(7)|liver(1)|lung(12)|prostate(2)|skin(2)|stomach(1) 32 Esophageal squamous(42;0.131) Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Tenecteplase(DB00031)|Urokinase(DB00013) AAACACCACAGAAAAGCCTTT 0.373000 33 20 0 0 0.000720815 0 0 KCNH2 3757 broad.mit.edu 37 7 150648062 150648062 + Missense_Mutation SNP C T T TCGA-EE-A3AC-06A-11D-A196-08 TCGA-EE-A3AC-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 883d623b-c427-4444-9ee3-66d18648130f f8f00311-8db5-4187-bcb8-5054d9fbdac3 g.chr7:150648062C>T uc003wic.3 - 7 2493 c.2092G>A c.(2092-2094)Gag>Aag p.E698K KCNH2_uc003wib.3_Missense_Mutation_p.E358K|KCNH2_uc011kux.2_Missense_Mutation_p.E602K|KCNH2_uc003wid.3_Missense_Mutation_p.E358K|KCNH2_uc003wie.3_Missense_Mutation_p.E698K NM_000238 NP_000229 Q12809 KCNH2_HUMAN Homo sapiens potassium voltage-gated channel, subfamily H (eag-related), member 2 (KCNH2), transcript variant 1, mRNA. 698 blood circulation|muscle contraction|regulation of heart contraction|regulation of transcription, DNA-dependent voltage-gated potassium channel complex delayed rectifier potassium channel activity|two-component sensor activity NS(1)|cervix(1)|endometrium(10)|kidney(1)|large_intestine(5)|lung(14)|ovary(1)|prostate(2)|skin(6)|upper_aerodigestive_tract(1) 42 all_neural(206;0.219) OV - Ovarian serous cystadenocarcinoma(82;0.0121) UCEC - Uterine corpus endometrioid carcinoma (81;0.168) Amiodarone(DB01118)|Amsacrine(DB00276)|Astemizole(DB00637)|Carvedilol(DB01136)|Cisapride(DB00604)|Dofetilide(DB00204)|Halofantrine(DB01218)|Ibutilide(DB00308)|Pimozide(DB01100)|Propafenone(DB01182)|Quinidine(DB00908)|Sertindole(DB06144)|Sotalol(DB00489)|Terfenadine(DB00342)|Verapamil(DB00661) AAGTACTCCTCGAGGCGCTGG 0.652000 20 12 0 0 0.000219431 0 0 ADAM2 2515 broad.mit.edu 37 8 39645728 39645728 + Missense_Mutation SNP C T T TCGA-EE-A3AC-06A-11D-A196-08 TCGA-EE-A3AC-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 883d623b-c427-4444-9ee3-66d18648130f f8f00311-8db5-4187-bcb8-5054d9fbdac3 g.chr8:39645728C>T uc003xnj.3 - 8 760 c.685G>A c.(685-687)Gag>Aag p.E229K ADAM2_uc003xnk.3_Missense_Mutation_p.E210K|ADAM2_uc011lck.2_Missense_Mutation_p.E229K|ADAM2_uc003xnl.3_Intron NM_001464 NP_001455 Q99965 ADAM2_HUMAN Homo sapiens ADAM metallopeptidase domain 2 (ADAM2), mRNA. 229 Peptidase M12B. cell adhesion|fusion of sperm to egg plasma membrane|proteolysis integral to plasma membrane integrin binding|metalloendopeptidase activity|zinc ion binding haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(11)|lung(29)|ovary(3)|prostate(1)|skin(5)|urinary_tract(1) 53 all_cancers(7;2.38e-28)|all_epithelial(6;8.85e-21)|all_lung(54;1.24e-07)|Lung NSC(58;1.94e-07)|Hepatocellular(245;0.00745)|Breast(189;0.00908)|Renal(179;0.0183)|Colorectal(162;0.246) LUSC - Lung squamous cell carcinoma(45;0.000149) READ - Rectum adenocarcinoma(644;0.0689)|Kidney(114;0.162) ATCCAAAGCTCCAATGAAGAC 0.274000 38 9 0 0 0.000673444 0 0 LRRC4B 94030 broad.mit.edu 37 19 51022446 51022446 + Missense_Mutation SNP G A A TCGA-EE-A3AC-06A-11D-A196-08 TCGA-EE-A3AC-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 883d623b-c427-4444-9ee3-66d18648130f f8f00311-8db5-4187-bcb8-5054d9fbdac3 g.chr19:51022446G>A uc002pss.3 - 2 661 c.524C>T c.(523-525)tCc>tTc p.S175F NM_001080457 NP_001073926 Q9NT99 LRC4B_HUMAN Homo sapiens leucine rich repeat containing 4B (LRRC4B), mRNA. 175 cell junction|integral to membrane|presynaptic membrane breast(1)|central_nervous_system(1)|endometrium(4)|large_intestine(6)|liver(1)|lung(11)|prostate(4)|skin(1)|urinary_tract(1) 30 all_neural(266;0.131) OV - Ovarian serous cystadenocarcinoma(262;0.00284)|GBM - Glioblastoma multiforme(134;0.0188) GAAGGCGTAGGAGGGGATGCT 0.657000 28 24 0 0 0.000720815 0 0 PTPRB 5787 broad.mit.edu 37 12 70933765 70933765 + Missense_Mutation SNP G A A TCGA-EE-A3AC-06A-11D-A196-08 TCGA-EE-A3AC-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 883d623b-c427-4444-9ee3-66d18648130f f8f00311-8db5-4187-bcb8-5054d9fbdac3 g.chr12:70933765G>A uc001swb.4 - 21 5008 c.4978C>T c.(4978-4980)Cgt>Tgt p.R1660C PTPRB_uc010sto.2_Missense_Mutation_p.R1570C|PTPRB_uc010stp.2_Missense_Mutation_p.R1570C|PTPRB_uc001swc.4_Missense_Mutation_p.R1878C|PTPRB_uc001swa.4_Missense_Mutation_p.R1790C NM_002837 NP_002828 P23467 PTPRB_HUMAN Homo sapiens protein tyrosine phosphatase, receptor type, B (PTPRB), transcript variant 2, mRNA. 1660 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) CGATCCCTACGAATGCTCAGA 0.408000 32 17 0 0 0.00074312 0 0 XIRP1 165904 broad.mit.edu 37 3 39229317 39229317 + Silent SNP C T T TCGA-EE-A3AC-06A-11D-A196-08 TCGA-EE-A3AC-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 883d623b-c427-4444-9ee3-66d18648130f f8f00311-8db5-4187-bcb8-5054d9fbdac3 g.chr3:39229317C>T uc003cjk.2 - 1 1849 c.1620G>A c.(1618-1620)caG>caA p.Q540Q XIRP1_uc003cji.3_Silent_p.Q540Q|XIRP1_uc003cjj.3_Intron|XIRP1_uc021wvz.1_Silent_p.Q540Q NM_194293 NP_919269 Q702N8 XIRP1_HUMAN Homo sapiens xin actin-binding repeat containing 1 (XIRP1), transcript variant 1, mRNA. 540 Interaction with CTNNB1 (By similarity). actin binding breast(4)|central_nervous_system(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(3)|kidney(4)|large_intestine(14)|lung(22)|ovary(4)|pancreas(1)|prostate(2)|skin(6) 71 KIRC - Kidney renal clear cell carcinoma(284;0.0517)|Kidney(284;0.065) CCACCACTTCCTGCCGGGTGA 0.612000 20 20 0 0 0.00229938 0 0 CLCN1 1180 broad.mit.edu 37 7 143013372 143013372 + Nonsense_Mutation SNP C T T TCGA-EE-A3AC-06A-11D-A196-08 TCGA-EE-A3AC-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 883d623b-c427-4444-9ee3-66d18648130f f8f00311-8db5-4187-bcb8-5054d9fbdac3 g.chr7:143013372C>T uc003wcr.1 + 0 154 c.67C>T c.(67-69)Cag>Tag p.Q23* CLCN1_uc011ktc.1_5'UTR NM_000083 NP_000074 P35523 CLCN1_HUMAN Homo sapiens chloride channel 1, skeletal muscle (CLCN1), mRNA. 23 muscle contraction chloride channel complex|integral to plasma membrane voltage-gated chloride channel activity breast(4)|central_nervous_system(1)|endometrium(1)|large_intestine(11)|lung(26)|ovary(3)|prostate(2)|skin(7)|stomach(1)|upper_aerodigestive_tract(2) 58 Melanoma(164;0.205) CCCCCAGTACCAGTATATGCC 0.637000 31 16 0 0 0.000308642 0 0 PTH1R 5745 broad.mit.edu 37 3 46944973 46944973 + Missense_Mutation SNP C T T TCGA-EE-A3AC-06A-11D-A196-08 TCGA-EE-A3AC-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 883d623b-c427-4444-9ee3-66d18648130f f8f00311-8db5-4187-bcb8-5054d9fbdac3 g.chr3:46944973C>T uc003cqm.3 + 15 1812 c.1609C>T c.(1609-1611)Cat>Tat p.H537Y PTH1R_uc021wxg.1_Missense_Mutation_p.H537Y NM_000316 NP_001171673 Q03431 PTH1R_HUMAN Homo sapiens parathyroid hormone 1 receptor (PTH1R), transcript variant 1, mRNA. 537 cytoplasm|integral to plasma membrane|nucleus parathyroid hormone receptor activity|peptide hormone binding|protein self-association breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(3)|liver(1)|lung(5)|skin(2)|stomach(1)|urinary_tract(2) 19 GCTGCCTGGCCATGCCAAGCC 0.677000 33 32 0 0 0.0024448 0 0 FGA 2243 broad.mit.edu 37 4 155505343 155505343 + Missense_Mutation SNP G A A TCGA-EE-A3AC-06A-11D-A196-08 TCGA-EE-A3AC-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 883d623b-c427-4444-9ee3-66d18648130f f8f00311-8db5-4187-bcb8-5054d9fbdac3 g.chr4:155505343G>A uc003iod.1 - 5 2592 c.2534C>T c.(2533-2535)tCc>tTc p.S845F NM_000508 NP_000499 P02671 FIBA_HUMAN Homo sapiens fibrinogen alpha chain (FGA), transcript variant alpha-E, mRNA. 845 Fibrinogen C-terminal. platelet activation|platelet degranulation|protein polymerization|response to calcium ion|signal transduction external side of plasma membrane|fibrinogen complex|platelet alpha granule lumen eukaryotic cell surface binding|protein binding, bridging|receptor binding NS(1)|breast(5)|central_nervous_system(2)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(14)|liver(2)|lung(20)|ovary(3)|pancreas(1)|prostate(8)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(6) 73 all_hematologic(180;0.215) Renal(120;0.0458) Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Sucralfate(DB00364)|Tenecteplase(DB00031) CCCTCTAAAGGAAACCCAGAC 0.493000 46 26 0 0 0.000878237 0 0 OR2M1P 388762 broad.mit.edu 37 1 248285833 248285833 + Silent SNP C T T TCGA-EE-A3AC-06A-11D-A196-08 TCGA-EE-A3AC-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 883d623b-c427-4444-9ee3-66d18648130f f8f00311-8db5-4187-bcb8-5054d9fbdac3 g.chr1:248285833C>T uc001idy.1 + 0 396 c.396C>T c.(394-396)ttC>ttT p.F132F Homo sapiens olfactory receptor, family 2, subfamily M, member 1 pseudogene (OR2M1P), non-coding RNA. AGGTTATTTTCATTTGCTCTA 0.423000 118 40 0 0 0.00128727 0 0 HCN4 10021 broad.mit.edu 37 15 73622049 73622049 + Silent SNP C G G rs148875639 by1000genomes TCGA-EE-A3AC-06A-11D-A196-08 TCGA-EE-A3AC-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 883d623b-c427-4444-9ee3-66d18648130f f8f00311-8db5-4187-bcb8-5054d9fbdac3 g.chr15:73622049C>G uc002avp.3 - 3 2449 c.1455G>C c.(1453-1455)gcG>gcC p.A485A NM_005477 NP_005468 Q9Y3Q4 HCN4_HUMAN Homo sapiens hyperpolarization activated cyclic nucleotide-gated potassium channel 4 (HCN4), mRNA. 485 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) TGCCCACGGGCGCCTGCCGCC 0.617000 20 11 0 0 0.000978159 0 0 SYT10 341359 broad.mit.edu 37 12 33535372 33535372 + Missense_Mutation SNP G A A TCGA-EE-A3AC-06A-11D-A196-08 TCGA-EE-A3AC-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 883d623b-c427-4444-9ee3-66d18648130f f8f00311-8db5-4187-bcb8-5054d9fbdac3 g.chr12:33535372G>A uc001rll.1 - 4 1579 c.1282C>T c.(1282-1284)Cct>Tct p.P428S SYT10_uc009zju.1_Missense_Mutation_p.P238S NM_198992 NP_945343 Q6XYQ8 SYT10_HUMAN Homo sapiens synaptotagmin X (SYT10), mRNA. 428 C2 2. cell junction|integral to membrane|synaptic vesicle membrane metal ion binding|transporter activity NS(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|liver(1)|lung(18)|ovary(1)|prostate(3)|skin(4)|urinary_tract(1) 42 Lung NSC(5;8.37e-07)|Acute lymphoblastic leukemia(23;0.0122)|all_hematologic(23;0.0334) TTGTACACAGGGTTTAGAGTG 0.408000 31 25 0 0 0.000586117 0 0 IL12RB2 3595 broad.mit.edu 37 1 67838131 67838131 + Missense_Mutation SNP C T T TCGA-EE-A3AC-06A-11D-A196-08 TCGA-EE-A3AC-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 883d623b-c427-4444-9ee3-66d18648130f f8f00311-8db5-4187-bcb8-5054d9fbdac3 g.chr1:67838131C>T uc001ddu.3 + 10 2112 c.1472C>T c.(1471-1473)tCc>tTc p.S491F IL12RB2_uc010oqi.2_Missense_Mutation_p.S491F|IL12RB2_uc010oqj.2_Missense_Mutation_p.S491F|IL12RB2_uc010oqk.2_Non-coding_Transcript|IL12RB2_uc010oql.2_Intron|IL12RB2_uc010oqm.2_Missense_Mutation_p.S491F|IL12RB2_uc010oqn.2_Non-coding_Transcript NM_001559 NP_001550 Q99665 I12R2_HUMAN Homo sapiens interleukin 12 receptor, beta 2 (IL12RB2), mRNA. 491 Fibronectin type-III 4. positive regulation of cell proliferation|positive regulation of interferon-gamma production integral to plasma membrane cytokine receptor activity breast(3)|central_nervous_system(1)|endometrium(3)|large_intestine(8)|lung(21)|ovary(3)|prostate(1)|skin(4)|upper_aerodigestive_tract(1) 45 AACATAAAATCCTACATCTGT 0.438000 47 22 0 0 0.00106085 0 0 PIWIL1 9271 broad.mit.edu 37 12 130834508 130834508 + Missense_Mutation SNP G A A TCGA-EE-A3AC-06A-11D-A196-08 TCGA-EE-A3AC-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 883d623b-c427-4444-9ee3-66d18648130f f8f00311-8db5-4187-bcb8-5054d9fbdac3 g.chr12:130834508G>A uc001uik.3 + 8 1311 c.1040G>A c.(1039-1041)aGg>aAg p.R347K PIWIL1_uc001uij.2_Missense_Mutation_p.R347K NM_004764 NP_004755 Q96J94 PIWL1_HUMAN Homo sapiens piwi-like 1 (Drosophila) (PIWIL1), transcript variant 1, mRNA. 347 PAZ. gene silencing by RNA|meiosis|multicellular organismal development|regulation of translation|spermatid development P granule|chromatoid body mRNA binding|piRNA binding|protein binding breast(6)|cervix(1)|endometrium(2)|kidney(4)|large_intestine(8)|lung(26)|ovary(2)|prostate(4)|skin(3)|urinary_tract(1) 57 all_neural(191;0.101)|Medulloblastoma(191;0.163) OV - Ovarian serous cystadenocarcinoma(86;3.02e-06)|Epithelial(86;3.85e-05)|all cancers(50;4.65e-05) GAATACTACAGGAAGGTAAGA 0.403000 33 19 0 0 0.00121646 0 0 STARD13 90627 broad.mit.edu 37 13 33703805 33703805 + Missense_Mutation SNP C T T TCGA-EE-A3AC-06A-11D-A196-08 TCGA-EE-A3AC-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 883d623b-c427-4444-9ee3-66d18648130f f8f00311-8db5-4187-bcb8-5054d9fbdac3 g.chr13:33703805C>T uc001uuw.3 - 4 1135 c.1009G>A c.(1009-1011)Gag>Aag p.E337K STARD13_uc001uuu.3_Missense_Mutation_p.E329K|STARD13_uc001uuv.3_Missense_Mutation_p.E219K|STARD13_uc001uux.3_Missense_Mutation_p.E302K|STARD13_uc010abh.1_Missense_Mutation_p.E322K|STARD13_uc021rhz.1_Missense_Mutation_p.E329K|STARD13_uc021ria.1_Missense_Mutation_p.E219K NM_178006 NP_443083 Q9Y3M8 STA13_HUMAN Homo sapiens StAR-related lipid transfer (START) domain containing 13 (STARD13), transcript variant 1, mRNA. 337 regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction cytosol|lipid particle|mitochondrial membrane GTPase activator activity|protein binding breast(2)|endometrium(2)|kidney(3)|large_intestine(6)|lung(18)|ovary(2)|pancreas(1)|prostate(1)|skin(3)|soft_tissue(1)|upper_aerodigestive_tract(1) 40 all_epithelial(80;0.155) Lung SC(185;0.0367) all cancers(112;1.31e-05)|Epithelial(112;0.000142)|BRCA - Breast invasive adenocarcinoma(63;0.00936)|OV - Ovarian serous cystadenocarcinoma(117;0.0533)|Lung(94;0.143)|GBM - Glioblastoma multiforme(144;0.143) CTGCTGTGCTCCGACGGGCTG 0.607000 28 22 0 0 0.000586117 0 0 XIRP2 129446 broad.mit.edu 37 2 168104861 168104861 + Missense_Mutation SNP C T T TCGA-EE-A3AC-06A-11D-A196-08 TCGA-EE-A3AC-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 883d623b-c427-4444-9ee3-66d18648130f f8f00311-8db5-4187-bcb8-5054d9fbdac3 g.chr2:168104861C>T uc002udx.3 + 8 7048 c.6959C>T c.(6958-6960)cCt>cTt p.P2320L XIRP2_uc010fpn.3_Intron|XIRP2_uc010fpo.3_Intron|XIRP2_uc002udy.3_Missense_Mutation_p.P2145L|XIRP2_uc010fpq.3_Missense_Mutation_p.P2098L|XIRP2_uc010fpr.3_Intron NM_152381 NP_689594 A4UGR9 XIRP2_HUMAN Homo sapiens xin actin-binding repeat containing 2 (XIRP2), transcript variant 1, mRNA. 2145 actin cytoskeleton organization cell junction actin binding NS(3)|biliary_tract(2)|breast(5)|cervix(3)|endometrium(16)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(51)|lung(160)|ovary(7)|pancreas(3)|prostate(11)|skin(14)|stomach(5)|upper_aerodigestive_tract(8)|urinary_tract(7) 315 ATGATGTTTCCTGAAAAAAAT 0.473000 22 23 0 0 0.00229938 0 0 NTRK1 4914 broad.mit.edu 37 1 156834185 156834185 + Silent SNP C T T TCGA-EE-A3AC-06A-11D-A196-08 TCGA-EE-A3AC-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 883d623b-c427-4444-9ee3-66d18648130f f8f00311-8db5-4187-bcb8-5054d9fbdac3 g.chr1:156834185C>T uc001fqh.1 + 1 308 c.252C>T c.(250-252)ctC>ctT p.L84L NTRK1_uc001fqf.1_Silent_p.L54L|NTRK1_uc009wsi.1_5'UTR|NTRK1_uc001fqi.1_Silent_p.L84L|NTRK1_uc009wsk.1_Silent_p.L84L NM_002529 NP_002520 P04629 NTRK1_HUMAN Homo sapiens neurotrophic tyrosine kinase, receptor, type 1 (NTRK1), transcript variant 2, mRNA. 84 Ras protein signal transduction|activation of MAPKK activity|activation of adenylate cyclase activity|activation of phospholipase C activity|cell differentiation|nerve growth factor receptor signaling pathway|nervous system development|phosphatidylinositol-mediated signaling endosome|integral to plasma membrane ATP binding|neurotrophin receptor activity|transmembrane receptor protein serine/threonine kinase activity|transmembrane receptor protein tyrosine kinase activity breast(3)|central_nervous_system(1)|endometrium(5)|kidney(3)|large_intestine(7)|lung(35)|ovary(8)|prostate(2)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3) 74 all_hematologic(923;0.0839)|Hepatocellular(266;0.158) Imatinib(DB00619) ATCTGGAGCTCCGTGATCTGA 0.622000 T """TPM3, TPR, TFG""" papillary thyroid TSP Lung(10;0.080) 64 18 0 0 0.00047179 0 0 FTHL17 53940 broad.mit.edu 37 X 31089887 31089887 + Missense_Mutation SNP C T T TCGA-EE-A3AC-06A-11D-A196-08 TCGA-EE-A3AC-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 883d623b-c427-4444-9ee3-66d18648130f f8f00311-8db5-4187-bcb8-5054d9fbdac3 g.chrX:31089887C>T uc004dcl.1 - 0 284 c.184G>A c.(184-186)Gac>Aac p.D62N NM_031894 NP_114100 Q9BXU8 FHL17_HUMAN Homo sapiens ferritin, heavy polypeptide-like 17 (FTHL17), mRNA. 62 Ferritin-like diiron. cellular iron ion homeostasis|iron ion transport ferric iron binding|oxidoreductase activity p.D61E(1) endometrium(2)|large_intestine(2)|liver(1)|lung(13)|prostate(1)|upper_aerodigestive_tract(3)|urinary_tract(1) 23 TCCATTTTGTCGTCCGACAGG 0.577000 7 39 0 0 0.00148497 0 0 LINGO2 158038 broad.mit.edu 37 9 27949564 27949564 + Missense_Mutation SNP C T T TCGA-EE-A3AC-06A-11D-A196-08 TCGA-EE-A3AC-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 883d623b-c427-4444-9ee3-66d18648130f f8f00311-8db5-4187-bcb8-5054d9fbdac3 g.chr9:27949564C>T uc003zqv.1 - 6 1756 c.1106G>A c.(1105-1107)cGa>cAa p.R369Q LINGO2_uc010mjf.1_Missense_Mutation_p.R369Q|LINGO2_uc003zqu.1_Missense_Mutation_p.R369Q|LINGO2_uc022bfc.1_Missense_Mutation_p.R369Q NM_152570 NP_689783 Q7L985 LIGO2_HUMAN Homo sapiens leucine rich repeat and Ig domain containing 2 (LINGO2), mRNA. 369 LRRCT. integral to membrane p.R369Q(6) autonomic_ganglia(1)|breast(2)|central_nervous_system(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|liver(1)|lung(13)|ovary(2)|prostate(4)|skin(1)|upper_aerodigestive_tract(1) 44 Melanoma(11;0.242) all_neural(11;2.78e-09) UCEC - Uterine corpus endometrioid carcinoma (5;0.0818)|GBM - Glioblastoma multiforme(2;1.31e-34)|all cancers(2;2.37e-25)|Lung(2;7.48e-08)|LUSC - Lung squamous cell carcinoma(38;5.09e-07)|KIRC - Kidney renal clear cell carcinoma(2;0.0465)|Kidney(2;0.0604) GGTGGGCTGTCGCTGCAAGAT 0.547000 14 8 0 0 0.000157383 0 0 CCDC102B 79839 broad.mit.edu 37 18 66678171 66678171 + Splice_Site SNP G A A TCGA-EE-A3AC-06A-11D-A196-08 TCGA-EE-A3AC-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 883d623b-c427-4444-9ee3-66d18648130f f8f00311-8db5-4187-bcb8-5054d9fbdac3 g.chr18:66678171G>A uc002lkk.2 + 9 1487 c.1264_splice c.e9-1 p.E422_splice CCDC102B_uc002lki.2_Splice_Site_p.E422_splice NM_001093729 NP_079057 Q68D86 C102B_HUMAN Homo sapiens coiled-coil domain containing 102B (CCDC102B), transcript variant 1, mRNA. 422 breast(2)|endometrium(3)|large_intestine(5)|lung(19)|ovary(1)|skin(5)|stomach(1) 36 Esophageal squamous(42;0.0559)|Colorectal(73;0.0604) CCTTTGAAAGGAATTACTGAA 0.318000 10 10 0 0 0.000442599 0 0 PCLO 27445 broad.mit.edu 37 7 82764818 82764818 + Missense_Mutation SNP G A A TCGA-EE-A3AC-06A-11D-A196-08 TCGA-EE-A3AC-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 883d623b-c427-4444-9ee3-66d18648130f f8f00311-8db5-4187-bcb8-5054d9fbdac3 g.chr7:82764818G>A uc003uhx.2 - 2 2337 c.2048C>T c.(2047-2049)tCc>tTc p.S683F PCLO_uc003uhv.2_Missense_Mutation_p.S683F NM_033026 NP_149015 Q9Y6V0 PCLO_HUMAN Homo sapiens piccolo (presynaptic cytomatrix protein) (PCLO), transcript variant 1, mRNA. 629 Pro-rich. cytoskeleton organization|synaptic vesicle exocytosis cell junction|cytoskeleton|synaptic vesicle calcium ion binding|calcium-dependent phospholipid binding|profilin binding|transporter activity p.S683F(1)|p.S629F(1) breast(3)|central_nervous_system(3)|cervix(5)|endometrium(19)|haematopoietic_and_lymphoid_tissue(3)|kidney(19)|large_intestine(35)|lung(145)|ovary(7)|prostate(4)|upper_aerodigestive_tract(14)|urinary_tract(2) 259 CTTCTTTGGGGAAGTCTGCTG 0.527000 33 23 0 0 0.000586117 0 0 ACOT8 10005 broad.mit.edu 37 20 44485898 44485898 + Silent SNP G A A TCGA-EE-A3AC-06A-11D-A196-08 TCGA-EE-A3AC-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 883d623b-c427-4444-9ee3-66d18648130f f8f00311-8db5-4187-bcb8-5054d9fbdac3 g.chr20:44485898G>A uc002xqa.2 - 0 151 c.57C>T c.(55-57)ccC>ccT p.P19P ACOT8_uc010zxe.2_Silent_p.P19P|ACOT8_uc002xqc.2_Missense_Mutation_p.P11L|ACOT8_uc010zxf.2_Silent_p.P19P|ZSWIM3_uc010zxg.2_5'Flank|ZSWIM3_uc002xqd.3_5'Flank NM_005469 NP_005460 O14734 ACOT8_HUMAN Homo sapiens acyl-CoA thioesterase 8 (ACOT8), mRNA. 19 bile acid biosynthetic process|fatty acid beta-oxidation using acyl-CoA oxidase|interspecies interaction between organisms|peroxisome organization peroxisomal matrix acetyl-CoA hydrolase activity|acyl-CoA thioesterase activity|carboxylesterase activity|choloyl-CoA hydrolase activity|protein binding p.P19S(1) kidney(2)|large_intestine(3)|lung(4)|skin(1) 10 Myeloproliferative disorder(115;0.0122) GGTCCCCAGGGGGATCGCCGC 0.672000 18 27 0 0 0.000878237 0 0 BRDT 676 broad.mit.edu 37 1 92459696 92459696 + Silent SNP C T T TCGA-EE-A3AC-06A-11D-A196-08 TCGA-EE-A3AC-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 883d623b-c427-4444-9ee3-66d18648130f f8f00311-8db5-4187-bcb8-5054d9fbdac3 g.chr1:92459696C>T uc001dol.4 + 15 2590 c.2172C>T c.(2170-2172)acC>acT p.T724T BRDT_uc010osz.2_Silent_p.T728T|BRDT_uc001dok.4_Silent_p.T724T|BRDT_uc009wdf.3_Silent_p.T651T|BRDT_uc010otb.2_Silent_p.T678T|BRDT_uc010ota.2_Silent_p.T678T|BRDT_uc001dom.4_Silent_p.T724T NM_001242805 NP_001229734 Q58F21 BRDT_HUMAN Homo sapiens bromodomain, testis-specific (BRDT), transcript variant 3, mRNA. 724 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus protein serine/threonine kinase activity|transcription coactivator activity breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(11)|lung(24)|ovary(1)|prostate(4)|skin(2)|stomach(2)|urinary_tract(2) 56 all_lung(203;0.00531)|Lung NSC(277;0.0194) all cancers(265;0.0228)|Epithelial(280;0.133) TTCATCAGACCACACCTTCAC 0.338000 67 33 0 0 0.000814825 0 0 ZSWIM5 57643 broad.mit.edu 37 1 45524428 45524428 + Nonsense_Mutation SNP G A A TCGA-EE-A3AC-06A-11D-A196-08 TCGA-EE-A3AC-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 883d623b-c427-4444-9ee3-66d18648130f f8f00311-8db5-4187-bcb8-5054d9fbdac3 g.chr1:45524428G>A uc001cnd.2 - 3 1333 c.1105C>T c.(1105-1107)Cga>Tga p.R369* NM_020883 NP_065934 Q9P217 ZSWM5_HUMAN Homo sapiens zinc finger, SWIM-type containing 5 (ZSWIM5), mRNA. 369 zinc ion binding breast(1)|central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(2)|liver(1)|lung(13)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(2) 28 Acute lymphoblastic leukemia(166;0.155) AGCATTTCTCGAACCTGACAC 0.483000 59 36 0 0 0.000781405 0 0 PCDHAC2 56134 broad.mit.edu 37 5 140188815 140188815 + Silent SNP G A A TCGA-EE-A3AC-06A-11D-A196-08 TCGA-EE-A3AC-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 883d623b-c427-4444-9ee3-66d18648130f f8f00311-8db5-4187-bcb8-5054d9fbdac3 g.chr5:140188815G>A uc003lhi.2 + 0 2144 c.2043G>A c.(2041-2043)cgG>cgA p.R681R PCDHAC2_uc003lha.2_Intron|PCDHAC2_uc003lhb.2_Intron|PCDHAC2_uc003lhd.2_Intron|PCDHAC2_uc003lhf.2_Intron|PCDHAC2_uc003lhh.1_Silent_p.R681R|PCDHAC2_uc011daa.2_Silent_p.R681R NM_018907 NP_061730 Q9Y5I4 PCDC2_HUMAN Homo sapiens protocadherin alpha 4 (PCDHA4), transcript variant 1, mRNA. 692 Cadherin 6. homophilic cell adhesion|nervous system development integral to plasma membrane calcium ion binding NS(1)|breast(1)|endometrium(4)|kidney(4)|large_intestine(10)|liver(2)|lung(9)|ovary(2)|prostate(1)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(1) 45 KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191) CCTCCTCACGGGCGTTGGTGG 0.637000 16 29 0 0 0.00127121 0 0 HMHA1 23526 broad.mit.edu 37 19 1068597 1068598 + Missense_Mutation DNP GG AA AA TCGA-EE-A3AC-06A-11D-A196-08 TCGA-EE-A3AC-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 883d623b-c427-4444-9ee3-66d18648130f f8f00311-8db5-4187-bcb8-5054d9fbdac3 g.chr19:1068597_1068598GG>AA uc002lqz.1 + 1 506_507 c.275_276GG>AA c.(274-276)cgg>cAA p.R92Q HMHA1_uc010xgd.1_Missense_Mutation_p.R108Q|HMHA1_uc010xge.1_Intron|HMHA1_uc002lra.1_5'UTR|HMHA1_uc002lrb.1_5'Flank NM_012292 NP_036424 Q92619 HMHA1_HUMAN Homo sapiens histocompatibility (minor) HA-1 (HMHA1), mRNA. 92 regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction cytosol GTPase activator activity|metal ion binding NS(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|lung(7)|ovary(1)|prostate(2) 16 Acute lymphoblastic leukemia(61;2.53e-14)|all_hematologic(61;8.18e-10)|Lung NSC(49;1.04e-05)|all_lung(49;1.53e-05)|Breast(49;9.42e-05)|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) CGGAGCCACCGGAGCCCACTGA 0.743000 11 9 0 0 6.4e-05 0 0 SCN1A 6323 broad.mit.edu 37 2 166905446 166905446 + Silent SNP G A A rs148669964 TCGA-EE-A3AC-06A-11D-A196-08 TCGA-EE-A3AC-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 883d623b-c427-4444-9ee3-66d18648130f f8f00311-8db5-4187-bcb8-5054d9fbdac3 g.chr2:166905446G>A uc002udo.4 - 8 1205 c.978C>T c.(976-978)ttC>ttT p.F326F SCN1A_uc010fpk.3_Silent_p.F326F|SCN1A_uc021vsb.1_Silent_p.F326F NM_001202435 NP_001189364 P35498 SCN1A_HUMAN Homo sapiens sodium channel, voltage-gated, type I, alpha subunit (SCN1A), transcript variant 4, mRNA. 326 voltage-gated sodium channel complex voltage-gated sodium channel activity p.F326F(2) NS(4)|breast(5)|endometrium(16)|haematopoietic_and_lymphoid_tissue(4)|kidney(8)|large_intestine(33)|lung(87)|ovary(7)|pancreas(1)|prostate(9)|skin(23)|upper_aerodigestive_tract(2)|urinary_tract(1) 200 Lamotrigine(DB00555)|Levetiracetam(DB01202)|Phenacemide(DB01121)|Phenytoin(DB00252)|Topiramate(DB00273)|Zonisamide(DB00909) AACCCTCCAGGAAATAATGAT 0.333000 14 7 0 0 0.000442599 0 0 ADAM30 11085 broad.mit.edu 37 1 120438704 120438704 + Silent SNP G T T TCGA-EE-A3AC-06A-11D-A196-08 TCGA-EE-A3AC-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 883d623b-c427-4444-9ee3-66d18648130f f8f00311-8db5-4187-bcb8-5054d9fbdac3 g.chr1:120438704G>T uc001eij.3 - 0 444 c.256C>A c.(256-258)Cga>Aga p.R86R NM_021794 NP_068566 Q9UKF2 ADA30_HUMAN Homo sapiens ADAM metallopeptidase domain 30 (ADAM30), mRNA. 86 proteolysis integral to membrane metalloendopeptidase activity|zinc ion binding NS(1)|autonomic_ganglia(1)|breast(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(11)|lung(16)|ovary(2)|skin(2) 38 all_cancers(5;7.07e-10)|all_epithelial(5;1.62e-10)|all_neural(166;0.153)|Breast(55;0.234) all_lung(203;1.55e-06)|Lung NSC(69;1.04e-05)|all_epithelial(167;0.00138) Lung(183;0.0204)|LUSC - Lung squamous cell carcinoma(189;0.117) CGCAGATGTCGGGGCAACAGA 0.532000 440 13 0.000308642 0.00140699 0.000308642 1 0 OR4N4 283694 broad.mit.edu 37 15 22382732 22382732 + Missense_Mutation SNP C T T TCGA-EE-A3AC-06A-11D-A196-08 TCGA-EE-A3AC-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 883d623b-c427-4444-9ee3-66d18648130f f8f00311-8db5-4187-bcb8-5054d9fbdac3 g.chr15:22382732C>T uc001yuc.1 + 6 1241 c.260C>T c.(259-261)tCt>tTt p.S87F abParts_uc001yuj.2_Intron|OR4N4_uc001yub.1_Non-coding_Transcript|OR4N4_uc010tzv.2_Missense_Mutation_p.S87F NM_001005241 NP_001005241 Q8N0Y3 OR4N4_HUMAN Homo sapiens olfactory receptor, family 4, subfamily N, member 4 (OR4N4), mRNA. 87 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity p.S87Y(2) breast(1)|endometrium(3)|kidney(3)|large_intestine(6)|lung(19)|ovary(4)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1) 40 all_cancers(20;1.94e-20)|all_epithelial(15;3.94e-18)|Lung NSC(15;8.53e-15)|all_lung(15;2.87e-14)|Breast(32;0.00519)|Colorectal(260;0.101) GBM - Glioblastoma multiforme(6;0.124) all cancers(64;1.64e-11)|Epithelial(43;5.81e-10)|BRCA - Breast invasive adenocarcinoma(123;0.000255)|Kidney(6;0.00736)|KIRC - Kidney renal clear cell carcinoma(6;0.0135)|GBM - Glioblastoma multiforme(186;0.0963) GACTTCCTCTCTGAGAAAAAG 0.507000 108 7 0 0 0.000308642 0 0 NLRP3 114548 broad.mit.edu 37 1 247587996 247587996 + Silent SNP C T T rs139852370 TCGA-EE-A3AC-06A-11D-A196-08 TCGA-EE-A3AC-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 883d623b-c427-4444-9ee3-66d18648130f f8f00311-8db5-4187-bcb8-5054d9fbdac3 g.chr1:247587996C>T uc001icr.3 + 4 1389 c.1251C>T c.(1249-1251)atC>atT p.I417I NLRP3_uc001ics.3_Silent_p.I417I|NLRP3_uc001icu.3_Silent_p.I417I|NLRP3_uc001icw.3_Silent_p.I417I|NLRP3_uc001icv.3_Silent_p.I417I|NLRP3_uc010pyw.2_Silent_p.I415I|NLRP3_uc001ict.1_Silent_p.I415I NM_001079821 NP_001230062 Q96P20 NALP3_HUMAN Homo sapiens NLR family, pyrin domain containing 3 (NLRP3), transcript variant 3, mRNA. 417 NACHT. detection of biotic stimulus|induction of apoptosis|inflammatory response|negative regulation of NF-kappaB import into nucleus|negative regulation of NF-kappaB transcription factor activity|positive regulation of interleukin-1 beta secretion|protein oligomerization|signal transduction cytoplasm ATP binding|peptidoglycan binding|protein binding p.W416S(1) NS(1)|breast(3)|endometrium(6)|kidney(1)|large_intestine(19)|lung(85)|ovary(9)|pancreas(2)|prostate(4)|skin(8)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 142 all_cancers(71;9.66e-05)|all_epithelial(71;1.85e-05)|Breast(184;0.0226)|Ovarian(71;0.0377)|all_lung(81;0.0662)|Lung NSC(105;0.0724) all_cancers(173;0.0172) OV - Ovarian serous cystadenocarcinoma(106;0.0141) TCTGCTGGATCGTGTGCACTG 0.552000 62 20 0 0 0.00188189 0 0 GRAMD1C 54762 broad.mit.edu 37 3 113652386 113652386 + Missense_Mutation SNP G A A TCGA-EE-A3AC-06A-11D-A196-08 TCGA-EE-A3AC-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 883d623b-c427-4444-9ee3-66d18648130f f8f00311-8db5-4187-bcb8-5054d9fbdac3 g.chr3:113652386G>A uc003eaq.4 + 11 1314 c.1238G>A c.(1237-1239)cGa>cAa p.R413Q GRAMD1C_uc011bil.2_Non-coding_Transcript|GRAMD1C_uc011bim.1_Non-coding_Transcript|GRAMD1C_uc003ear.3_Missense_Mutation_p.R246Q|GRAMD1C_uc003eas.3_Missense_Mutation_p.R208Q|GRAMD1C_uc003eat.3_Missense_Mutation_p.R72Q NM_017577 NP_001165576 Q8IYS0 GRM1C_HUMAN Homo sapiens GRAM domain containing 1C (GRAMD1C), transcript variant 1, mRNA. 413 integral to membrane NS(1)|endometrium(1)|large_intestine(6)|lung(13)|ovary(2)|skin(3) 26 CGGGAAGCACGATTTTATTTG 0.343000 53 33 0 0 0.00128727 0 0 FGD5 152273 broad.mit.edu 37 3 14861592 14861592 + Silent SNP C T T TCGA-EE-A3AC-06A-11D-A196-08 TCGA-EE-A3AC-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 883d623b-c427-4444-9ee3-66d18648130f f8f00311-8db5-4187-bcb8-5054d9fbdac3 g.chr3:14861592C>T uc003bzc.3 + 0 1124 c.1014C>T c.(1012-1014)ttC>ttT p.F338F FGD5_uc011avk.2_Silent_p.F338F NM_152536 NP_689749 Q6ZNL6 FGD5_HUMAN Homo sapiens FYVE, RhoGEF and PH domain containing 5 (FGD5), mRNA. 338 actin cytoskeleton organization|filopodium assembly|regulation of Cdc42 GTPase activity|regulation of cell shape Golgi apparatus|cytoskeleton|lamellipodium|ruffle Rho guanyl-nucleotide exchange factor activity|metal ion binding|small GTPase binding NS(2)|breast(2)|endometrium(3)|kidney(5)|large_intestine(10)|lung(25)|ovary(3)|pancreas(1)|prostate(2)|urinary_tract(1) 54 TGGAGGACTTCGTGACTTCCC 0.537000 42 30 0 0 0.000491102 0 0 SLC5A2 6524 broad.mit.edu 37 16 31501777 31501777 + Missense_Mutation SNP C T T TCGA-EE-A3AC-06A-11D-A196-08 TCGA-EE-A3AC-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 883d623b-c427-4444-9ee3-66d18648130f f8f00311-8db5-4187-bcb8-5054d9fbdac3 g.chr16:31501777C>T uc002ecf.4 + 13 1959 c.1940C>T c.(1939-1941)cCg>cTg p.P647L SLC5A2_uc010car.3_Non-coding_Transcript|C16orf58_uc002ecg.3_5'Flank|C16orf58_uc002ech.2_3'UTR|C16orf58_uc002eci.2_3'UTR NM_003041 NP_003032 P31639 SC5A2_HUMAN Homo sapiens solute carrier family 5 (sodium/glucose cotransporter), member 2 (SLC5A2), mRNA. 647 carbohydrate metabolic process integral to membrane low-affinity glucose:sodium symporter activity endometrium(2)|kidney(3)|large_intestine(5)|lung(9)|ovary(1)|pancreas(1)|prostate(2)|skin(1)|urinary_tract(1) 25 AGCGAGGACCCGAGCTGGGCC 0.627000 22 12 0 0 0.000219431 0 0 CGNL1 84952 broad.mit.edu 37 15 57745996 57745996 + Missense_Mutation SNP G A A TCGA-EE-A3AC-06A-11D-A196-08 TCGA-EE-A3AC-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 883d623b-c427-4444-9ee3-66d18648130f f8f00311-8db5-4187-bcb8-5054d9fbdac3 g.chr15:57745996G>A uc010bfw.3 + 7 2363 c.2170G>A c.(2170-2172)Gag>Aag p.E724K CGNL1_uc002aeg.3_Missense_Mutation_p.E724K NM_001252335 NP_001239264 Q0VF96 CGNL1_HUMAN Homo sapiens cingulin-like 1 (CGNL1), transcript variant 1, mRNA. 724 myosin complex|tight junction motor activity autonomic_ganglia(1)|breast(1)|central_nervous_system(2)|endometrium(5)|kidney(4)|large_intestine(12)|lung(14)|ovary(4)|prostate(4)|skin(10)|stomach(2)|upper_aerodigestive_tract(1) 60 all cancers(107;0.121)|GBM - Glioblastoma multiforme(80;0.186) GGAGGACAGGGAGAAGGGAGC 0.562000 28 9 0 0 0.00136819 0 0 C1orf226 400793 broad.mit.edu 37 1 162353118 162353118 + Missense_Mutation SNP C T T TCGA-EE-A3AC-06A-11D-A196-08 TCGA-EE-A3AC-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 883d623b-c427-4444-9ee3-66d18648130f f8f00311-8db5-4187-bcb8-5054d9fbdac3 g.chr1:162353118C>T uc010pkt.1 + 2 601 c.593C>T c.(592-594)tCa>tTa p.S198L C1orf226_uc001gby.2_Missense_Mutation_p.S155L NM_001135240 NP_001128712 A1L170 CA226_HUMAN Homo sapiens chromosome 1 open reading frame 226 (C1orf226), transcript variant 1, mRNA. 155 central_nervous_system(1)|cervix(1)|endometrium(1)|large_intestine(3)|lung(4)|ovary(1)|upper_aerodigestive_tract(1) 12 ACAGAGCCATCACCTGGGCAG 0.592000 10 5 0 0 0.000602214 0 0 LRRIQ3 127255 broad.mit.edu 37 1 74507258 74507258 + Missense_Mutation SNP C T T TCGA-EE-A3AC-06A-11D-A196-08 TCGA-EE-A3AC-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 883d623b-c427-4444-9ee3-66d18648130f f8f00311-8db5-4187-bcb8-5054d9fbdac3 g.chr1:74507258C>T uc001dfy.4 - 6 1549 c.1357G>A c.(1357-1359)Gtt>Att p.V453I LRRIQ3_uc001dfz.4_Intron NM_001105659 NP_001099129 A6PVS8 LRIQ3_HUMAN Homo sapiens leucine-rich repeats and IQ motif containing 3 (LRRIQ3), mRNA. 453 p.R452R(1) NS(2)|breast(1)|central_nervous_system(2)|endometrium(7)|kidney(5)|large_intestine(13)|liver(1)|lung(27)|ovary(3)|prostate(1)|skin(5)|soft_tissue(1)|upper_aerodigestive_tract(5) 73 GCTACTCTAACTCTTTCTCGA 0.313000 87 52 0 0 0.000781405 0 0 CFB 629 broad.mit.edu 37 6 31915831 31915831 + Silent SNP A G G TCGA-EE-A3AC-06A-11D-A196-08 TCGA-EE-A3AC-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 883d623b-c427-4444-9ee3-66d18648130f f8f00311-8db5-4187-bcb8-5054d9fbdac3 g.chr6:31915831A>G uc003nyj.4 + 5 1148 c.870A>G c.(868-870)aaA>aaG p.K290K CFB_uc011dor.2_Silent_p.K792K|CFB_uc003nyi.2_Silent_p.K290K NM_001710 NP_001701 P00751 CFAB_HUMAN Homo sapiens complement factor B (CFB), mRNA. 290 VWFA. complement activation, alternative pathway|proteolysis extracellular region|plasma membrane complement binding|serine-type endopeptidase activity NS(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(10)|pancreas(1)|skin(1)|urinary_tract(1) 21 CAGGAGCCAAAAAGTGTCTAG 0.502000 112 73 0 0 0.000781405 0 0 PRKRA 8575 broad.mit.edu 37 2 179296897 179296897 + Missense_Mutation SNP G A A TCGA-EE-A3AC-06A-11D-A196-08 TCGA-EE-A3AC-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 883d623b-c427-4444-9ee3-66d18648130f f8f00311-8db5-4187-bcb8-5054d9fbdac3 g.chr2:179296897G>A uc002umf.3 - 7 1070 c.869C>T c.(868-870)tCc>tTc p.S290F MIR548N_uc021vsx.1_Intron|PRKRA_uc002umc.3_Missense_Mutation_p.S122F|PRKRA_uc002umd.3_Missense_Mutation_p.S265F|PRKRA_uc002ume.3_Missense_Mutation_p.S279F|PRKRA_uc002umg.3_Missense_Mutation_p.S177F|BX538254_uc002umb.1_Intron|PRKRA_uc002umh.1_Non-coding_Transcript NM_003690 NP_001132990 O75569 PRKRA_HUMAN Homo sapiens protein kinase, interferon-inducible double stranded RNA dependent activator (PRKRA), transcript variant 1, mRNA. 290 DRBM 3.|Sufficient for self-association and interaction with TARBP2. immune response|negative regulation of cell proliferation|production of siRNA involved in RNA interference|response to virus perinuclear region of cytoplasm double-stranded RNA binding|enzyme activator activity|protein homodimerization activity central_nervous_system(1)|endometrium(2)|large_intestine(4)|lung(8)|ovary(1)|pancreas(1)|skin(2) 19 OV - Ovarian serous cystadenocarcinoma(117;0.00406)|Epithelial(96;0.00634)|all cancers(119;0.0265) ATTGCCACAGGAGATACCGGA 0.418000 61 31 0 0 0.00058488 0 0 IL19 29949 broad.mit.edu 37 1 207013243 207013243 + Missense_Mutation SNP G A A TCGA-EE-A3AC-06A-11D-A196-08 TCGA-EE-A3AC-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 883d623b-c427-4444-9ee3-66d18648130f f8f00311-8db5-4187-bcb8-5054d9fbdac3 g.chr1:207013243G>A uc001hep.3 + 4 1198 c.259G>A c.(259-261)Gac>Aac p.D87N IL19_uc001heo.3_Missense_Mutation_p.D125N|IL19_uc010prx.1_Missense_Mutation_p.D87N NM_013371 NP_037503 Q9UHD0 IL19_HUMAN Homo sapiens interleukin 19 (IL19), transcript variant 2, mRNA. 87 apoptosis|immune response|signal transduction extracellular space cytokine activity central_nervous_system(2)|large_intestine(1)|lung(2)|ovary(1)|stomach(1) 7 BRCA - Breast invasive adenocarcinoma(75;0.211) GTTCTACGTGGACAGGGTGTT 0.473000 117 184 0 0 0.000781405 0 0 PSME4 23198 broad.mit.edu 37 2 54153116 54153116 + Silent SNP G A A TCGA-EE-A3AC-06A-11D-A196-08 TCGA-EE-A3AC-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 883d623b-c427-4444-9ee3-66d18648130f f8f00311-8db5-4187-bcb8-5054d9fbdac3 g.chr2:54153116G>A uc002rxp.2 - 12 1694 c.1638C>T c.(1636-1638)ttC>ttT p.F546F PSME4_uc010yop.1_Silent_p.F432F|PSME4_uc010yoq.1_Non-coding_Transcript|PSME4_uc010fbu.1_5'UTR|PSME4_uc010fbv.1_Intron|PSME4_uc021vho.1_Silent_p.F531F NM_014614 NP_055429 Q14997 PSME4_HUMAN Homo sapiens proteasome (prosome, macropain) activator subunit 4 (PSME4), mRNA. 546 DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|M/G1 transition of mitotic cell cycle|S phase of mitotic cell cycle|anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|apoptosis|cell differentiation|mRNA metabolic process|multicellular organismal development|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|regulation of apoptosis|regulation of cellular amino acid metabolic process|spermatogenesis|viral reproduction nuclear speck|proteasome complex binding breast(5)|endometrium(8)|kidney(1)|large_intestine(11)|lung(26)|ovary(4)|pancreas(1)|prostate(1)|stomach(1)|urinary_tract(2) 60 Lung(47;0.125)|LUSC - Lung squamous cell carcinoma(58;0.181) ACTGTAAGACGAAATCCTCAA 0.363000 39 16 0 0 0.00229938 0 0 ITGAD 3681 broad.mit.edu 37 16 31422778 31422778 + Silent SNP G A A TCGA-EE-A3AC-06A-11D-A196-08 TCGA-EE-A3AC-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 883d623b-c427-4444-9ee3-66d18648130f f8f00311-8db5-4187-bcb8-5054d9fbdac3 g.chr16:31422778G>A uc010cap.1 + 13 1699 c.1650G>A c.(1648-1650)cgG>cgA p.R550R ITGAD_uc002ebv.1_Silent_p.R549R NM_005353 NP_005344 Q13349 ITAD_HUMAN Homo sapiens integrin, alpha D (ITGAD), mRNA. 549 cell-cell adhesion|cell-matrix adhesion|immune response|integrin-mediated signaling pathway integrin complex receptor activity breast(1)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|liver(2)|lung(43)|ovary(1)|prostate(2)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1) 71 AGGAGAACCGGGGTGCTGTCT 0.622000 89 43 0 0 0.000781405 0 0 CEACAM20 125931 broad.mit.edu 37 19 45026929 45026929 + Missense_Mutation SNP G A A TCGA-EE-A3AC-06A-11D-A196-08 TCGA-EE-A3AC-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 883d623b-c427-4444-9ee3-66d18648130f f8f00311-8db5-4187-bcb8-5054d9fbdac3 g.chr19:45026929G>A uc010ejn.1 - 3 501 c.485C>T c.(484-486)cCt>cTt p.P162L CEACAM20_uc010ejo.1_Missense_Mutation_p.P162L|CEACAM20_uc010ejp.1_Missense_Mutation_p.P162L|CEACAM20_uc010ejq.1_Missense_Mutation_p.P162L NM_001102597 NP_001096067 Q6UY09 CEA20_HUMAN Homo sapiens carcinoembryonic antigen-related cell adhesion molecule 20 (CEACAM20), transcript variant 5L, mRNA. 162 Ig-like C2-type 2. integral to membrane central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(8)|prostate(1) 15 Prostate(69;0.0352) GATTTCAACAGGATCAGGACC 0.463000 137 96 0 0 0.000781405 0 0 DSG4 147409 broad.mit.edu 37 18 28968850 28968850 + Missense_Mutation SNP C T T TCGA-EE-A3AC-06A-11D-A196-08 TCGA-EE-A3AC-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 883d623b-c427-4444-9ee3-66d18648130f f8f00311-8db5-4187-bcb8-5054d9fbdac3 g.chr18:28968850C>T uc002kwr.2 + 4 521 c.386C>T c.(385-387)gCt>gTt p.A129V DSG4_uc002kwq.2_Missense_Mutation_p.A129V NM_001134453 NP_001127925 Q86SJ6 DSG4_HUMAN Homo sapiens desmoglein 4 (DSG4), transcript variant 1, mRNA. 129 Cadherin 1. Missing (in LAH1). homophilic cell adhesion desmosome|integral to membrane calcium ion binding p.R128L(2) NS(1)|breast(1)|central_nervous_system(6)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(11)|liver(2)|lung(35)|ovary(4)|skin(1)|stomach(1)|urinary_tract(1) 70 OV - Ovarian serous cystadenocarcinoma(10;0.00504) TATTGCCGGGCTCTGAATTCA 0.373000 46 38 0 0 0.00148497 0 0 FCHSD1 89848 broad.mit.edu 37 5 141028539 141028539 + Silent SNP C T T TCGA-EE-A3AC-06A-11D-A196-08 TCGA-EE-A3AC-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 883d623b-c427-4444-9ee3-66d18648130f f8f00311-8db5-4187-bcb8-5054d9fbdac3 g.chr5:141028539C>T uc003llk.3 - 6 612 c.561G>A c.(559-561)caG>caA p.Q187Q FCHSD1_uc010jgg.3_5'Flank|FCHSD1_uc003llj.3_Non-coding_Transcript NM_033449 NP_258260 Q86WN1 FCSD1_HUMAN Homo sapiens FCH and double SH3 domains 1 (FCHSD1), mRNA. 187 FCHSD1/BRAF(2) central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(3)|large_intestine(8)|lung(5)|ovary(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 24 KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191) TGCTCAGTTTCTGGAGACTGG 0.532000 60 48 0 0 0.000781405 0 0 GOLGA5 9950 broad.mit.edu 37 14 93290921 93290921 + Nonsense_Mutation SNP C T T TCGA-EE-A3AC-06A-11D-A196-08 TCGA-EE-A3AC-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 883d623b-c427-4444-9ee3-66d18648130f f8f00311-8db5-4187-bcb8-5054d9fbdac3 g.chr14:93290921C>T uc001yaz.1 + 8 1833 c.1651C>T c.(1651-1653)Cga>Tga p.R551* NM_005113 NP_005104 Q8TBA6 GOGA5_HUMAN Homo sapiens golgin A5 (GOLGA5), mRNA. 551 Golgi organization cis-Golgi network|integral to membrane ATP binding|Rab GTPase binding|protein homodimerization activity|protein tyrosine kinase activity p.R551Q(1) large_intestine(6)|lung(1)|ovary(2) 9 all_cancers(154;0.0934) COAD - Colon adenocarcinoma(157;0.222) AGATCTTTATCGAACAAAGAA 0.368000 T RET papillary thyroid 47 32 0 0 0.00148497 0 0 SUPT6H 6830 broad.mit.edu 37 17 27008341 27008341 + Nonsense_Mutation SNP C T T TCGA-EE-A3AC-06A-11D-A196-08 TCGA-EE-A3AC-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 883d623b-c427-4444-9ee3-66d18648130f f8f00311-8db5-4187-bcb8-5054d9fbdac3 g.chr17:27008341C>T uc010crt.3 + 12 1609 c.1417C>T c.(1417-1419)Cga>Tga p.R473* SUPT6H_uc002hby.3_Nonsense_Mutation_p.R473* NM_003170 NP_003161 Q7KZ85 SPT6H_HUMAN Homo sapiens suppressor of Ty 6 homolog (S. cerevisiae) (SUPT6H), mRNA. 473 chromatin remodeling|regulation of transcription elongation, DNA-dependent|regulation of transcription from RNA polymerase II promoter nucleus RNA binding|hydrolase activity, acting on ester bonds|sequence-specific DNA binding transcription factor activity NS(4)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(9)|kidney(2)|large_intestine(15)|lung(21)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1) 64 Lung NSC(42;0.00431) TTATTATGGCCGAGACATCCC 0.448000 41 44 0 0 0.000509022 0 0 SPERT 220082 broad.mit.edu 37 13 46276538 46276538 + Missense_Mutation SNP G A A TCGA-EE-A3AC-06A-11D-A196-08 TCGA-EE-A3AC-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 883d623b-c427-4444-9ee3-66d18648130f f8f00311-8db5-4187-bcb8-5054d9fbdac3 g.chr13:46276538G>A uc001van.1 + 0 93 c.13G>A c.(13-15)Gaa>Aaa p.E5K SPERT_uc001vao.2_5'Flank NM_152719 NP_689932 Q8NA61 SPERT_HUMAN Homo sapiens spermatid associated (SPERT), mRNA. 5 cytoplasmic membrane-bounded vesicle NS(1)|central_nervous_system(1)|large_intestine(5)|lung(5)|ovary(1)|pancreas(1)|prostate(1) 15 Breast(56;0.000819)|Lung NSC(96;0.00227)|Prostate(109;0.00703)|Lung SC(185;0.0367)|Hepatocellular(98;0.0556) KIRC - Kidney renal clear cell carcinoma(16;0.234) GBM - Glioblastoma multiforme(144;7.26e-05) GTCACCTCTGGAATGTTCTGA 0.433000 100 58 0 0 0.000781405 0 0 PTPRU 10076 broad.mit.edu 37 1 29618476 29618476 + Missense_Mutation SNP C T T TCGA-EE-A3AC-06A-11D-A196-08 TCGA-EE-A3AC-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 883d623b-c427-4444-9ee3-66d18648130f f8f00311-8db5-4187-bcb8-5054d9fbdac3 g.chr1:29618476C>T uc001bru.3 + 15 2573 c.2444C>T c.(2443-2445)aCc>aTc p.T815I PTPRU_uc009vtq.3_Missense_Mutation_p.T805I|PTPRU_uc009vtr.3_Missense_Mutation_p.T805I|PTPRU_uc001brw.3_Missense_Mutation_p.T805I NM_005704 NP_005695 Q92729 PTPRU_HUMAN Homo sapiens protein tyrosine phosphatase, receptor type, U (PTPRU), transcript variant 3, mRNA. 815 Mediates interaction with CTNNB1 (By similarity). canonical Wnt receptor signaling pathway|cell differentiation|negative regulation of cell migration|negative regulation of cell proliferation|negative regulation of transcription, DNA-dependent|protein localization at cell surface|transmembrane receptor protein tyrosine phosphatase signaling pathway cell-cell junction|integral to plasma membrane beta-catenin binding|transmembrane receptor protein tyrosine phosphatase activity breast(4)|central_nervous_system(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(18)|lung(26)|ovary(1)|prostate(3)|skin(9)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2) 79 Colorectal(325;0.000399)|Lung NSC(340;0.00953)|all_lung(284;0.0112)|Breast(348;0.0126)|all_neural(195;0.0199)|Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.0563)|Medulloblastoma(700;0.123) Colorectal(126;6.99e-07)|COAD - Colon adenocarcinoma(152;3.18e-05)|STAD - Stomach adenocarcinoma(196;0.0234)|READ - Rectum adenocarcinoma(331;0.0686)|BRCA - Breast invasive adenocarcinoma(304;0.0871) GACCAGAGCACCCTGCAGGAG 0.627000 27 12 0 0 0.00185496 0 0 COL14A1 7373 broad.mit.edu 37 8 121295969 121295969 + Missense_Mutation SNP G A A TCGA-EE-A3AC-06A-11D-A196-08 TCGA-EE-A3AC-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 883d623b-c427-4444-9ee3-66d18648130f f8f00311-8db5-4187-bcb8-5054d9fbdac3 g.chr8:121295969G>A uc003yox.3 + 31 4184 c.3919G>A c.(3919-3921)Gag>Aag p.E1307K COL14A1_uc003yoz.3_Missense_Mutation_p.E272K NM_021110 NP_066933 Q05707 COEA1_HUMAN Homo sapiens collagen, type XIV, alpha 1 (COL14A1), mRNA. 1307 Nonhelical region (NC4).|TSP N-terminal. cell-cell adhesion|collagen fibril organization collagen type XIV|extracellular space collagen binding|extracellular matrix structural constituent|protein binding, bridging NS(1)|autonomic_ganglia(1)|breast(11)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(9)|large_intestine(31)|lung(42)|ovary(5)|pancreas(1)|prostate(1)|skin(8)|stomach(2)|upper_aerodigestive_tract(2) 119 Lung NSC(37;6.52e-07)|Ovarian(258;0.00769)|Hepatocellular(40;0.161) OV - Ovarian serous cystadenocarcinoma(1;6.47e-38)|STAD - Stomach adenocarcinoma(47;0.00503) TGCTCTTTGGGAGATTTTAAA 0.383000 35 35 0 0 0.00058488 0 0 PLCE1 51196 broad.mit.edu 37 10 95791423 95791424 + Missense_Mutation DNP AC GT GT TCGA-EE-A3AC-06A-11D-A196-08 TCGA-EE-A3AC-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 883d623b-c427-4444-9ee3-66d18648130f f8f00311-8db5-4187-bcb8-5054d9fbdac3 g.chr10:95791423_95791424AC>GT uc001kjk.3 + 1 1254_1255 c.620_621AC>GT c.(619-621)aac>aGT p.N207S PLCE1_uc010qnx.2_Missense_Mutation_p.N207S NM_016341 NP_057425 Q9P212 PLCE1_HUMAN Homo sapiens phospholipase C, epsilon 1 (PLCE1), transcript variant 1, mRNA. 207 Ras protein signal transduction|activation of MAPK activity|activation of phospholipase C activity by G-protein coupled receptor protein signaling pathway coupled to IP3 second messenger|activation of protein kinase C activity by G-protein coupled receptor protein signaling pathway|calcium-mediated signaling|cell proliferation|cytoskeleton organization|diacylglycerol biosynthetic process|elevation of cytosolic calcium ion concentration|epidermal growth factor receptor signaling pathway|glomerulus development|heart development|lipid catabolic process|regulation of G-protein coupled receptor protein signaling pathway|regulation of Ras protein signal transduction|regulation of cell growth|regulation of smooth muscle contraction Golgi membrane|cytosol|membrane fraction|plasma membrane Ras GTPase binding|calcium ion binding|guanyl-nucleotide exchange factor activity|phosphatidylinositol phospholipase C activity|receptor signaling protein activity liver(1)|ovary(2)|skin(4)|upper_aerodigestive_tract(1) 8 Colorectal(252;0.0458) CTATCAGAAAACTTAATTTTAG 0.411000 18 13 0 0 6.4e-05 0 0 RALGAPA1 253959 broad.mit.edu 37 14 36123592 36123592 + Missense_Mutation SNP G A A TCGA-EE-A3AC-06A-11D-A196-08 TCGA-EE-A3AC-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 883d623b-c427-4444-9ee3-66d18648130f f8f00311-8db5-4187-bcb8-5054d9fbdac3 g.chr14:36123592G>A uc001wtj.3 - 28 4461 c.4070C>T c.(4069-4071)tCt>tTt p.S1357F RALGAPA1_uc010amp.3_Non-coding_Transcript|RALGAPA1_uc001wti.3_Missense_Mutation_p.S1357F|RALGAPA1_uc010tpv.2_Missense_Mutation_p.S1370F|RALGAPA1_uc010tpw.1_Missense_Mutation_p.S1404F NM_194301 NP_919277 Q6GYQ0 RGPA1_HUMAN Homo sapiens Ral GTPase activating protein, alpha subunit 1 (catalytic) (RALGAPA1), transcript variant 2, mRNA. 1357 Minimal domain that binds to TCF3/E12 (By similarity). activation of Ral GTPase activity cytosol|mitochondrion|nucleus Ral GTPase activator activity|protein heterodimerization activity p.D1356A(1) breast(4)|central_nervous_system(2)|cervix(1)|endometrium(7)|kidney(7)|large_intestine(14)|lung(21)|ovary(3)|prostate(4)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 67 TTTCAAGGGAGAATCAGGCTG 0.289000 19 24 0 0 0.000586117 0 0 SMARCA2 6595 broad.mit.edu 37 9 2039544 2039544 + Missense_Mutation SNP C A A TCGA-EE-A3AC-06A-11D-A196-08 TCGA-EE-A3AC-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 883d623b-c427-4444-9ee3-66d18648130f f8f00311-8db5-4187-bcb8-5054d9fbdac3 g.chr9:2039544C>A uc003zhc.3 + 3 533 c.434C>A c.(433-435)cCa>cAa p.P145Q SMARCA2_uc003zhd.3_Missense_Mutation_p.P145Q|SMARCA2_uc010mha.3_Missense_Mutation_p.P136Q NM_003070 NP_003061 P51531 SMCA2_HUMAN Homo sapiens SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily a, member 2 (SMARCA2), transcript variant 1, mRNA. 145 chromatin remodeling|negative regulation of cell growth|negative regulation of transcription from RNA polymerase II promoter|nervous system development SWI/SNF complex|WINAC complex|intermediate filament cytoskeleton|nBAF complex|npBAF complex|nuclear chromatin|nucleoplasm ATP binding|DNA-dependent ATPase activity|RNA polymerase II transcription coactivator activity|helicase activity|protein binding|transcription regulatory region DNA binding breast(1)|central_nervous_system(1)|endometrium(7)|kidney(3)|large_intestine(11)|liver(2)|lung(19)|ovary(3)|pancreas(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2) 56 all_lung(10;2.06e-09)|Lung NSC(10;2.43e-09) GBM - Glioblastoma multiforme(50;0.0475) GGCCCAACTCCACCTCAGATG 0.567000 54 28 2.4375e-19 1.12648e-18 0.00127121 1 0 ZC3H3 23144 broad.mit.edu 37 8 144550575 144550575 + Silent SNP G A A TCGA-EE-A3AC-06A-11D-A196-08 TCGA-EE-A3AC-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 883d623b-c427-4444-9ee3-66d18648130f f8f00311-8db5-4187-bcb8-5054d9fbdac3 g.chr8:144550575G>A uc003yyd.2 - 6 2111 c.2082C>T c.(2080-2082)ccC>ccT p.P694P NM_015117 NP_055932 Q8IXZ2 ZC3H3_HUMAN Homo sapiens zinc finger CCCH-type containing 3 (ZC3H3), mRNA. 694 mRNA polyadenylation|poly(A)+ mRNA export from nucleus|regulation of mRNA export from nucleus nucleus nucleic acid binding|zinc ion binding breast(1)|endometrium(2)|kidney(2)|large_intestine(1)|lung(13)|ovary(1)|skin(2)|upper_aerodigestive_tract(1) 23 all_cancers(97;8.64e-11)|all_epithelial(106;6.43e-09)|Lung NSC(106;0.000202)|all_lung(105;0.000548)|Ovarian(258;0.0212)|Acute lymphoblastic leukemia(118;0.155) Colorectal(110;0.107)|BRCA - Breast invasive adenocarcinoma(115;0.107) CCACCTTCTCGGGATCGTGGA 0.672000 5 6 0 0 0.00116845 0 0 GUCY1A3 2982 broad.mit.edu 37 4 156643314 156643314 + Missense_Mutation SNP G A A TCGA-EE-A3AC-06A-11D-A196-08 TCGA-EE-A3AC-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 883d623b-c427-4444-9ee3-66d18648130f f8f00311-8db5-4187-bcb8-5054d9fbdac3 g.chr4:156643314G>A uc003iov.3 + 9 2377 c.1841G>A c.(1840-1842)cGa>cAa p.R614Q GUCY1A3_uc010iqc.2_Missense_Mutation_p.R614Q|GUCY1A3_uc010iqd.3_Missense_Mutation_p.R613Q|GUCY1A3_uc003iow.3_Missense_Mutation_p.R614Q|GUCY1A3_uc003iox.3_Missense_Mutation_p.R614Q|GUCY1A3_uc010iqe.3_Missense_Mutation_p.R379Q|GUCY1A3_uc003ioy.3_Missense_Mutation_p.R614Q|GUCY1A3_uc003ioz.3_Missense_Mutation_p.R379Q|GUCY1A3_uc003ipa.3_Non-coding_Transcript|GUCY1A3_uc003ipb.3_Missense_Mutation_p.R614Q NM_000856 NP_001124157 Q02108 GCYA3_HUMAN Homo sapiens guanylate cyclase 1, soluble, alpha 3 (GUCY1A3), transcript variant 1, mRNA. 614 blood circulation|intracellular signal transduction|nitric oxide mediated signal transduction|platelet activation guanylate cyclase complex, soluble GTP binding|guanylate cyclase activity|heme binding|receptor activity central_nervous_system(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(25)|liver(2)|lung(19)|ovary(1)|pancreas(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1) 64 all_hematologic(180;0.24) Renal(120;0.0854) COAD - Colon adenocarcinoma(41;0.17) AGTGTACCACGAAAAATCAAT 0.378000 26 11 0 0 0.000978159 0 0 OR2Z1 284383 broad.mit.edu 37 19 8841889 8841889 + Missense_Mutation SNP C T T TCGA-EE-A3AC-06A-11D-A196-08 TCGA-EE-A3AC-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 883d623b-c427-4444-9ee3-66d18648130f f8f00311-8db5-4187-bcb8-5054d9fbdac3 g.chr19:8841889C>T uc010xkg.2 + 0 499 c.499C>T c.(499-501)Ccc>Tcc p.P167S NM_001004699 NP_001004699 Q8NG97 OR2Z1_HUMAN Homo sapiens olfactory receptor, family 2, subfamily Z, member 1 (OR2Z1), mRNA. 167 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity p.P167L(1) 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 CCTGCATTTTCCCTACTGTGC 0.552000 24 77 0 0 0.000781405 0 0 SSH1 54434 broad.mit.edu 37 12 109186549 109186549 + Missense_Mutation SNP G A A TCGA-EE-A3AC-06A-11D-A196-08 TCGA-EE-A3AC-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 883d623b-c427-4444-9ee3-66d18648130f f8f00311-8db5-4187-bcb8-5054d9fbdac3 g.chr12:109186549G>A uc001tnm.3 - 13 1493 c.1406C>T c.(1405-1407)cCt>cTt p.P469L SSH1_uc001tnl.3_Missense_Mutation_p.P157L|SSH1_uc010sxg.2_Missense_Mutation_p.P480L|SSH1_uc001tnn.4_Missense_Mutation_p.P469L NM_018984 NP_061857 Q8WYL5 SSH1_HUMAN Homo sapiens slingshot homolog 1 (Drosophila) (SSH1), transcript variant 1, mRNA. 469 actin cytoskeleton organization|cell morphogenesis|cellular response to ATP|regulation of actin polymerization or depolymerization|regulation of axonogenesis|regulation of cellular protein metabolic process|regulation of lamellipodium assembly cleavage furrow|cytoplasm|cytoskeleton|lamellipodium|midbody|plasma membrane actin binding|protein tyrosine phosphatase activity|protein tyrosine/serine/threonine phosphatase activity p.?(2) breast(1)|endometrium(5)|kidney(3)|large_intestine(9)|lung(8)|ovary(4)|prostate(2)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1) 38 GTCATCCACAGGCTGCTGGAG 0.637000 21 15 0 0 0.000422831 0 0 THOC2 57187 broad.mit.edu 37 X 122753266 122753266 + Missense_Mutation SNP C T T TCGA-EE-A3AC-06A-11D-A196-08 TCGA-EE-A3AC-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 883d623b-c427-4444-9ee3-66d18648130f f8f00311-8db5-4187-bcb8-5054d9fbdac3 g.chrX:122753266C>T uc004etu.3 - 32 4329 c.4297G>A c.(4297-4299)Gaa>Aaa p.E1433K THOC2_uc010nqt.1_Non-coding_Transcript|THOC2_uc004etw.1_Missense_Mutation_p.E254K NM_001081550 NP_001075019 Q8NI27 THOC2_HUMAN Homo sapiens THO complex 2 (THOC2), mRNA. 1433 Lys-rich. RNA splicing|intronless viral mRNA export from host nucleus|mRNA processing THO complex part of transcription export complex RNA binding|protein binding breast(2)|endometrium(13)|kidney(4)|large_intestine(11)|lung(26)|ovary(3)|skin(1)|upper_aerodigestive_tract(3) 63 GCTGAAGATTCCTTGAGTTCG 0.388000 5 16 0 0 0.00152264 0 0 ACTR2 10097 broad.mit.edu 37 2 65488384 65488384 + Missense_Mutation SNP C T T TCGA-EE-A3AC-06A-11D-A196-08 TCGA-EE-A3AC-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 883d623b-c427-4444-9ee3-66d18648130f f8f00311-8db5-4187-bcb8-5054d9fbdac3 g.chr2:65488384C>T uc002sdp.3 + 7 969 c.754C>T c.(754-756)Cca>Tca p.P252S ACTR2_uc010yqf.1_Missense_Mutation_p.P192S|ACTR2_uc002sdq.3_Missense_Mutation_p.P247S|ACTR2_uc010yqg.2_Missense_Mutation_p.P195S NM_001005386 NP_001005386 P61160 ARP2_HUMAN Homo sapiens ARP2 actin-related protein 2 homolog (yeast) (ACTR2), transcript variant 1, mRNA. 247 cellular component movement Arp2/3 protein complex|cell projection|cytoplasm ATP binding|actin binding NS(1)|breast(2)|endometrium(3)|kidney(1)|large_intestine(3)|lung(1)|prostate(1) 12 TTTCTAGCTCCCAGATGGACG 0.393000 22 15 0 0 0.00074312 0 0 PNPLA7 375775 broad.mit.edu 37 9 140409837 140409837 + Missense_Mutation SNP G A A TCGA-EE-A3AC-06A-11D-A196-08 TCGA-EE-A3AC-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 883d623b-c427-4444-9ee3-66d18648130f f8f00311-8db5-4187-bcb8-5054d9fbdac3 g.chr9:140409837G>A uc010ncj.1 - 11 1556 c.1219C>T c.(1219-1221)Cca>Tca p.P407S PNPLA7_uc011mfa.1_Missense_Mutation_p.P114S|PNPLA7_uc004cnf.2_Missense_Mutation_p.P382S NM_001098537 NP_001092007 Q6ZV29 PLPL7_HUMAN Homo sapiens patatin-like phospholipase domain containing 7 (PNPLA7), transcript variant 1, mRNA. 382 FLHSDEHPGSSVASKSRKSVMVAEIPSTVSQHSESHTDETL ASRKSDAIFRAAKKDLLTLMKLEDSSLLDG -> LCLLPQC LGGLPPTDTSVYSSASSDCCGCSMPVLCIMGHKPHVTVDT (in Ref. 1; BAC86509). lipid metabolic process endoplasmic reticulum|integral to membrane|lysosomal membrane|microsome|mitochondrial membrane|nuclear membrane hydrolase activity p.D407N(1) breast(1)|central_nervous_system(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(9)|lung(13)|ovary(1)|prostate(1)|skin(2)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(1) 40 all_cancers(76;0.126) OV - Ovarian serous cystadenocarcinoma(145;0.000268)|Epithelial(140;0.000839) TTACCTTGTGGGGCCGAAGGG 0.647000 7 5 0 0 0.000602214 0 0 MACF1 23499 broad.mit.edu 37 1 39934333 39934333 + Missense_Mutation SNP C T T TCGA-EE-A3AC-06A-11D-A196-08 TCGA-EE-A3AC-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 883d623b-c427-4444-9ee3-66d18648130f f8f00311-8db5-4187-bcb8-5054d9fbdac3 g.chr1:39934333C>T uc021olw.1 + 60 17147 c.17147C>T c.(17146-17148)aCc>aTc p.T5716I MACF1_uc021ols.1_Missense_Mutation_p.T5205I|MACF1_uc021olt.1_Missense_Mutation_p.T5208I|MACF1_uc001cde.2_Missense_Mutation_p.T85I|MACF1_uc001cdg.3_5'UTR|MACF1_uc001cdh.3_5'UTR NM_012090 NP_036222 Q9UPN3 MACF1_HUMAN Homo sapiens microtubule-actin crosslinking factor 1 (MACF1), transcript variant 1, mRNA. 7166 Golgi to plasma membrane protein transport|Wnt receptor signaling pathway|cell cycle arrest|positive regulation of Wnt receptor signaling pathway|regulation of epithelial cell migration|regulation of focal adhesion assembly|regulation of microtubule-based process|wound healing Golgi apparatus|microtubule|ruffle membrane ATPase activity|actin filament binding|calcium ion binding|microtubule binding p.T5716T(1) breast(11)|central_nervous_system(5)|endometrium(18)|haematopoietic_and_lymphoid_tissue(1)|kidney(11)|large_intestine(36)|lung(78)|ovary(12)|prostate(2)|skin(9)|stomach(2)|upper_aerodigestive_tract(8)|urinary_tract(10) 203 Lung NSC(20;5.57e-06)|Ovarian(52;0.00769)|Acute lymphoblastic leukemia(166;0.074) Myeloproliferative disorder(586;0.0255) OV - Ovarian serous cystadenocarcinoma(33;7.78e-19)|Epithelial(16;1.73e-17)|all cancers(16;2.49e-16)|LUSC - Lung squamous cell carcinoma(16;0.00146)|Lung(16;0.00204) CTGCGCAGCACCGTGATGGTT 0.433000 36 21 0 0 0.00188189 0 0 OR6C76 390326 broad.mit.edu 37 12 55820217 55820217 + Silent SNP C T T TCGA-EE-A3AC-06A-11D-A196-08 TCGA-EE-A3AC-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 883d623b-c427-4444-9ee3-66d18648130f f8f00311-8db5-4187-bcb8-5054d9fbdac3 g.chr12:55820217C>T uc010spm.2 + 0 180 c.180C>T c.(178-180)ttC>ttT p.F60F NM_001005183 NP_001005183 A6NM76 O6C76_HUMAN Homo sapiens olfactory receptor, family 6, subfamily C, member 76 (OR6C76), mRNA. 60 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity NS(1)|central_nervous_system(1)|large_intestine(3)|lung(4)|prostate(1)|skin(1)|soft_tissue(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 14 TGTATTTCTTCCTCAGGAATT 0.393000 53 27 0 0 0.00127121 0 0 PUM1 9698 broad.mit.edu 37 1 31425183 31425184 + Missense_Mutation DNP GG AA AA TCGA-EE-A3AC-06A-11D-A196-08 TCGA-EE-A3AC-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 883d623b-c427-4444-9ee3-66d18648130f f8f00311-8db5-4187-bcb8-5054d9fbdac3 g.chr1:31425183_31425184GG>AA uc001bsi.1 - 15 2731_2732 c.2618_2619CC>TT c.(2617-2619)gcc>gTT p.A873V PUM1_uc001bsf.1_Missense_Mutation_p.A539V|PUM1_uc001bsh.1_Missense_Mutation_p.A873V|PUM1_uc001bsj.1_Missense_Mutation_p.A847V|PUM1_uc010oga.1_Missense_Mutation_p.A729V|PUM1_uc001bsk.1_Missense_Mutation_p.A909V|PUM1_uc010ogb.1_Missense_Mutation_p.A814V NM_014676 NP_055491 Q14671 PUM1_HUMAN Homo sapiens pumilio homolog 1 (Drosophila) (PUM1), transcript variant 2, mRNA. 873 PUM-HD. cellular membrane organization|post-Golgi vesicle-mediated transport|regulation of translation cytosol RNA binding breast(1)|central_nervous_system(2)|endometrium(8)|kidney(4)|large_intestine(8)|lung(17)|ovary(2)|pancreas(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 48 Colorectal(325;0.0211)|Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.0308)|all_neural(195;0.0381)|Breast(348;0.0848)|Medulloblastoma(700;0.123) STAD - Stomach adenocarcinoma(196;0.0232)|READ - Rectum adenocarcinoma(331;0.0681) CAGCTGGTGTGGCACGCTCCAG 0.460000 31 17 0 0 6.4e-05 0 0 DUOXA1 90527 broad.mit.edu 37 15 45412962 45412962 + Missense_Mutation SNP C T T TCGA-EE-A3AC-06A-11D-A196-08 TCGA-EE-A3AC-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 883d623b-c427-4444-9ee3-66d18648130f f8f00311-8db5-4187-bcb8-5054d9fbdac3 g.chr15:45412962C>T uc001zup.3 - 6 782 c.382G>A c.(382-384)Gag>Aag p.E128K DUOXA1_uc010uem.2_Missense_Mutation_p.E83K|DUOXA1_uc010bec.3_Missense_Mutation_p.E128K|DUOXA1_uc001zuq.1_Missense_Mutation_p.E128K|DUOXA1_uc001zur.1_Missense_Mutation_p.E83K|DUOXA1_uc010bed.1_Missense_Mutation_p.E83K NM_144565 NP_653166 Q1HG43 DOXA1_HUMAN Homo sapiens dual oxidase maturation factor 1 (DUOXA1), mRNA. 128 protein transport endoplasmic reticulum membrane|integral to membrane endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(3)|lung(3)|ovary(1)|upper_aerodigestive_tract(1) 16 all_cancers(109;6.02e-08)|all_epithelial(112;1.83e-06)|Lung NSC(122;8.3e-05)|all_lung(180;0.000547)|Melanoma(134;0.0417) all cancers(107;3.82e-18)|GBM - Glioblastoma multiforme(94;4.39e-07)|COAD - Colon adenocarcinoma(120;0.0676)|Colorectal(133;0.0686) GTGAACTCCTCGTTGTAATTG 0.572000 89 57 0 0 0.000781405 0 0 OTOL1 131149 broad.mit.edu 37 3 161214704 161214704 + Missense_Mutation SNP G A A TCGA-EE-A3AC-06A-11D-A196-08 TCGA-EE-A3AC-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 883d623b-c427-4444-9ee3-66d18648130f f8f00311-8db5-4187-bcb8-5054d9fbdac3 g.chr3:161214704G>A uc011bpb.2 + 0 109 c.109G>A c.(109-111)Gaa>Aaa p.E37K NM_001080440 NP_001073909 A6NHN0 OTOL1_HUMAN Homo sapiens otolin 1 (OTOL1), mRNA. 37 collagen central_nervous_system(2)|kidney(2)|large_intestine(8)|lung(11)|ovary(1)|prostate(2)|skin(1) 27 GAAATCTGAGGAAAGAGAGAT 0.413000 18 6 0 0 0.00116845 0 0 FAM47B 170062 broad.mit.edu 37 X 34961468 34961468 + Missense_Mutation SNP G A A TCGA-EE-A3AC-06A-11D-A196-08 TCGA-EE-A3AC-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 883d623b-c427-4444-9ee3-66d18648130f f8f00311-8db5-4187-bcb8-5054d9fbdac3 g.chrX:34961468G>A uc004ddi.2 + 0 556 c.520G>A c.(520-522)Gag>Aag p.E174K NM_152631 NP_689844 Q8NA70 FA47B_HUMAN Homo sapiens family with sequence similarity 47, member B (FAM47B), mRNA. 174 breast(3)|central_nervous_system(3)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(13)|lung(28)|ovary(4)|prostate(3)|skin(2)|upper_aerodigestive_tract(3) 71 GAAGACAACCGAGGTACCCAC 0.607000 3 15 0 0 0.000219431 0 0 CWH43 80157 broad.mit.edu 37 4 49032922 49032922 + Missense_Mutation SNP G A A TCGA-EE-A3AC-06A-11D-A196-08 TCGA-EE-A3AC-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 883d623b-c427-4444-9ee3-66d18648130f f8f00311-8db5-4187-bcb8-5054d9fbdac3 g.chr4:49032922G>A uc003gyv.3 + 10 1635 c.1453G>A c.(1453-1455)Gaa>Aaa p.E485K CWH43_uc011bzl.2_Missense_Mutation_p.E458K NM_025087 NP_079363 Q9H720 PG2IP_HUMAN Homo sapiens cell wall biogenesis 43 C-terminal homolog (S. cerevisiae) (CWH43), mRNA. 485 GPI anchor biosynthetic process integral to membrane cervix(1)|endometrium(4)|kidney(1)|large_intestine(4)|lung(26)|ovary(1)|prostate(1)|skin(4)|urinary_tract(1) 43 GTGGCTAGGGGAAAAGTTGGG 0.418000 67 41 0 0 0.000589545 0 0 LRRC16B 90668 broad.mit.edu 37 14 24538049 24538049 + Missense_Mutation SNP G A A TCGA-EE-A3AC-06A-11D-A196-08 TCGA-EE-A3AC-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 883d623b-c427-4444-9ee3-66d18648130f f8f00311-8db5-4187-bcb8-5054d9fbdac3 g.chr14:24538049G>A uc001wlj.2 + 37 4013 c.3856G>A c.(3856-3858)Ggc>Agc p.G1286S LRRC16B_uc001wlk.2_Missense_Mutation_p.G339S|CPNE6_uc010tnv.2_5'Flank|CPNE6_uc001wlm.3_5'Flank|CPNE6_uc001wll.3_5'Flank NM_138360 NP_612369 Q8ND23 LR16B_HUMAN Homo sapiens leucine rich repeat containing 16B (LRRC16B), mRNA. 1286 breast(3)|central_nervous_system(2)|cervix(3)|endometrium(7)|kidney(1)|large_intestine(9)|liver(1)|lung(15)|ovary(2)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(4) 52 GBM - Glioblastoma multiforme(265;0.019) TGTGCCCAGGGGCCGCCAGCC 0.642000 13 16 0 0 0.00152264 0 0 CASR 846 broad.mit.edu 37 3 122003521 122003521 + Missense_Mutation SNP G A A TCGA-EE-A3AC-06A-11D-A196-08 TCGA-EE-A3AC-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 883d623b-c427-4444-9ee3-66d18648130f f8f00311-8db5-4187-bcb8-5054d9fbdac3 g.chr3:122003521G>A uc003eew.4 + 6 3188 c.2750G>A c.(2749-2751)gGa>gAa p.G917E CASR_uc003eev.4_Missense_Mutation_p.G907E NM_001178065 NP_001171536 P41180 CASR_HUMAN Homo sapiens calcium-sensing receptor (CASR), transcript variant 1, mRNA. 907 anatomical structure morphogenesis|calcium ion import|cellular calcium ion homeostasis|chemosensory behavior|detection of calcium ion|ossification integral to plasma membrane G-protein coupled receptor activity|phosphatidylinositol phospholipase C activity NS(1)|breast(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(13)|lung(45)|ovary(4)|prostate(3)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 84 GBM - Glioblastoma multiforme(114;0.226) Cinacalcet(DB01012) GGCTCCACGGGATCCACCCCC 0.667000 14 9 0 0 0.000442599 0 0 RAG1 5896 broad.mit.edu 37 11 36595095 36595095 + Missense_Mutation SNP T G G TCGA-EE-A3AC-06A-11D-A196-08 TCGA-EE-A3AC-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 883d623b-c427-4444-9ee3-66d18648130f f8f00311-8db5-4187-bcb8-5054d9fbdac3 g.chr11:36595095T>G uc021qgb.1 + 0 241 c.241T>G c.(241-243)Tta>Gta p.L81V RAG1_uc001mwt.3_Non-coding_Transcript|RAG1_uc001mwu.4_Missense_Mutation_p.L81V NM_000448 NP_000439 P15918 RAG1_HUMAN Homo sapiens recombination activating gene 1 (RAG1), mRNA. 81 Interaction with importin alpha-1. T cell differentiation in thymus|V(D)J recombination|histone monoubiquitination|immune response|pre-B cell allelic exclusion|protein autoubiquitination nucleus endonuclease activity|histone binding|protein homodimerization activity|sequence-specific DNA binding|ubiquitin-protein ligase activity|zinc ion binding NS(1)|breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(14)|liver(1)|lung(33)|ovary(1)|pancreas(1)|prostate(1)|skin(5)|urinary_tract(1) 65 all_lung(20;0.226) all_hematologic(20;0.107) TCAGCCATTGTTAAAAGCCCA 0.493000 Familial Hemophagocytic Lymphohistiocytosis 65 46 0 0 0.000781405 0 0 PLEKHG1 57480 broad.mit.edu 37 6 151152181 151152182 + Missense_Mutation DNP CC TT TT TCGA-EE-A3AC-06A-11D-A196-08 TCGA-EE-A3AC-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 883d623b-c427-4444-9ee3-66d18648130f f8f00311-8db5-4187-bcb8-5054d9fbdac3 g.chr6:151152181_151152182CC>TT uc011eem.1 + 14 2199_2200 c.2111_2112CC>TT c.(2110-2112)ccc>cTT p.P704L PLEKHG1_uc011eel.1_Missense_Mutation_p.P685L|PLEKHG1_uc003qny.1_Missense_Mutation_p.P645L|PLEKHG1_uc003qnz.2_Missense_Mutation_p.P645L NM_001029884 NP_001025055 Q9ULL1 PKHG1_HUMAN Homo sapiens pleckstrin homology domain containing, family G (with RhoGef domain) member 1 (PLEKHG1), mRNA. 645 regulation of Rho protein signal transduction intracellular Rho guanyl-nucleotide exchange factor activity p.P645P(1) breast(3)|central_nervous_system(1)|endometrium(5)|kidney(2)|large_intestine(10)|lung(19)|ovary(5)|prostate(4)|stomach(1)|urinary_tract(3) 53 BRCA - Breast invasive adenocarcinoma(37;0.0923) OV - Ovarian serous cystadenocarcinoma(155;6.69e-13) GAGATGACTCCCTTTGGGTCAT 0.460000 2 6 0 0 6.4e-05 0 0 AMBRA1 55626 broad.mit.edu 37 11 46534347 46534347 + Missense_Mutation SNP A G G TCGA-EE-A3AC-06A-11D-A196-08 TCGA-EE-A3AC-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 883d623b-c427-4444-9ee3-66d18648130f f8f00311-8db5-4187-bcb8-5054d9fbdac3 g.chr11:46534347A>G uc001ncv.2 - 9 2412 c.2098T>C c.(2098-2100)Tcc>Ccc p.S700P AMBRA1_uc010rgt.1_Missense_Mutation_p.S263P|AMBRA1_uc009ylc.1_Intron|AMBRA1_uc001ncu.1_Missense_Mutation_p.S607P|AMBRA1_uc010rgu.1_Missense_Mutation_p.S697P|AMBRA1_uc001ncw.2_Intron|AMBRA1_uc001ncx.2_Missense_Mutation_p.S697P NM_017749 NP_060219 Q9C0C7 AMRA1_HUMAN Homo sapiens autophagy/beclin-1 regulator 1 (AMBRA1), mRNA. 697 autophagy|cell differentiation|nervous system development autophagic vacuole|cytoplasmic vesicle NS(1)|breast(3)|central_nervous_system(1)|endometrium(10)|kidney(2)|large_intestine(6)|lung(10)|ovary(2)|prostate(1)|skin(1)|urinary_tract(2) 39 GBM - Glioblastoma multiforme(35;0.0435)|Lung(87;0.182) GAAATGAGGGAAGATTCCAGC 0.443000 60 40 0 0 0.000781405 0 0 DLX3 1747 broad.mit.edu 37 17 48069074 48069074 + Missense_Mutation SNP G A A TCGA-EE-A3AC-06A-11D-A196-08 TCGA-EE-A3AC-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 883d623b-c427-4444-9ee3-66d18648130f f8f00311-8db5-4187-bcb8-5054d9fbdac3 g.chr17:48069074G>A uc002ipy.3 - 2 897 c.671C>T c.(670-672)cCg>cTg p.P224L NM_005220 NP_005211 O60479 DLX3_HUMAN Homo sapiens distal-less homeobox 3 (DLX3), mRNA. 224 nucleus sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(4)|upper_aerodigestive_tract(1)|urinary_tract(2) 12 GGCAGGGGCCGGAGTGGAGTG 0.647000 33 13 0 0 0.00185496 0 0 ENPP3 5169 broad.mit.edu 37 6 131973708 131973708 + Missense_Mutation SNP C T T TCGA-EE-A3AC-06A-11D-A196-08 TCGA-EE-A3AC-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 883d623b-c427-4444-9ee3-66d18648130f f8f00311-8db5-4187-bcb8-5054d9fbdac3 g.chr6:131973708C>T uc003qcu.4 + 4 651 c.304C>T c.(304-306)Cgt>Tgt p.R102C ENPP3_uc010kfn.1_Non-coding_Transcript|ENPP3_uc011ecc.1_Missense_Mutation_p.R68C|ENPP3_uc010kfo.1_Non-coding_Transcript|ENPP3_uc010kfp.1_Non-coding_Transcript|ENPP3_uc003qcv.3_Missense_Mutation_p.R102C|ENPP3_uc010kfq.3_Non-coding_Transcript NM_005021 NP_005012 O14638 ENPP3_HUMAN Homo sapiens ectonucleotide pyrophosphatase/phosphodiesterase 3 (ENPP3), mRNA. 102 SMB 2. immune response|nucleoside triphosphate catabolic process|phosphate metabolic process extracellular region|integral to plasma membrane|perinuclear region of cytoplasm metal ion binding|nucleic acid binding|nucleoside-triphosphate diphosphatase activity|nucleotide diphosphatase activity|phosphodiesterase I activity|polysaccharide binding|scavenger receptor activity p.R102C(2) NS(1)|breast(2)|cervix(1)|endometrium(6)|kidney(3)|large_intestine(5)|lung(24)|ovary(3)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1) 53 Breast(56;0.0753) GBM - Glioblastoma multiforme(226;0.0252)|OV - Ovarian serous cystadenocarcinoma(155;0.0511) CAATAAATTTCGTTGTGGAGA 0.378000 20 30 0 0 0.000692331 0 0 RYR2 6262 broad.mit.edu 37 1 237982410 237982410 + Silent SNP A T T TCGA-EE-A3AC-06A-11D-A196-08 TCGA-EE-A3AC-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 883d623b-c427-4444-9ee3-66d18648130f f8f00311-8db5-4187-bcb8-5054d9fbdac3 g.chr1:237982410A>T uc001hyl.1 + 100 14628 c.14508A>T c.(14506-14508)ggA>ggT p.G4836G RYR2_uc010pyb.1_Silent_p.G269G NM_001035 NP_001026 Q92736 RYR2_HUMAN Homo sapiens ryanodine receptor 2 (cardiac) (RYR2), mRNA. 4836 cardiac muscle contraction|detection of calcium ion|induction of apoptosis by ionic changes|regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion|release of sequestered calcium ion into cytosol by sarcoplasmic reticulum|response to caffeine|response to hypoxia|response to redox state calcium channel complex|cytosol|plasma membrane|plasma membrane enriched fraction|sarcoplasmic reticulum membrane calcium ion binding|calmodulin binding|identical protein binding|protein kinase A catalytic subunit binding|protein kinase A regulatory subunit binding|receptor activity|ryanodine-sensitive calcium-release channel activity|suramin binding NS(4)|breast(8)|central_nervous_system(11)|cervix(2)|endometrium(39)|haematopoietic_and_lymphoid_tissue(5)|kidney(17)|large_intestine(83)|liver(4)|lung(353)|ovary(18)|pancreas(5)|prostate(12)|skin(8)|stomach(1)|upper_aerodigestive_tract(12)|urinary_tract(4) 586 Ovarian(103;0.103) all_cancers(173;0.000368)|Melanoma(53;0.0179)|all_epithelial(177;0.0225) OV - Ovarian serous cystadenocarcinoma(106;0.00606) ACCCAGCAGGAGATGAATATG 0.413000 95 41 0 0 0.00148497 0 0 ADAMTS7 11173 broad.mit.edu 37 15 79064056 79064056 + Silent SNP G A A TCGA-EE-A3AC-06A-11D-A196-08 TCGA-EE-A3AC-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 883d623b-c427-4444-9ee3-66d18648130f f8f00311-8db5-4187-bcb8-5054d9fbdac3 g.chr15:79064056G>A uc002bej.4 - 14 2458 c.2247C>T c.(2245-2247)ctC>ctT p.L749L ADAMTS7_uc010und.1_Intron|ADAMTS7_uc002bek.1_Silent_p.L749L NM_014272 NP_055087 Q9UKP4 ATS7_HUMAN Homo sapiens ADAM metallopeptidase with thrombospondin type 1 motif, 7 (ADAMTS7), mRNA. 749 Spacer. proteolysis proteinaceous extracellular matrix metalloendopeptidase activity|zinc ion binding NS(1)|breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(2)|lung(23)|ovary(1)|prostate(8)|skin(9) 54 AGCCACCATTGAGGAAGTACT 0.642000 26 14 0 0 0.000308642 0 0 ANO4 121601 broad.mit.edu 37 12 101437354 101437354 + Missense_Mutation SNP C T T TCGA-EE-A3AC-06A-11D-A196-08 TCGA-EE-A3AC-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 883d623b-c427-4444-9ee3-66d18648130f f8f00311-8db5-4187-bcb8-5054d9fbdac3 g.chr12:101437354C>T uc010svm.1 + 12 1764 c.1192C>T c.(1192-1194)Cct>Tct p.P398S ANO4_uc001thw.2_Missense_Mutation_p.P363S|ANO4_uc001thx.2_Missense_Mutation_p.P398S NM_178826 NP_849148 Q32M45 ANO4_HUMAN Homo sapiens anoctamin 4 (ANO4), mRNA. 398 chloride channel complex chloride channel activity NS(1)|biliary_tract(1)|breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(14)|lung(33)|ovary(4)|prostate(5)|skin(7)|stomach(2)|urinary_tract(1) 78 CATCATGTGTCCTGTGTGTGA 0.368000 HNSCC(74;0.22) 37 26 0 0 0.00178596 0 0 ANKAR 150709 broad.mit.edu 37 2 190584441 190584441 + Missense_Mutation SNP A C C TCGA-EE-A3AC-06A-11D-A196-08 TCGA-EE-A3AC-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 883d623b-c427-4444-9ee3-66d18648130f f8f00311-8db5-4187-bcb8-5054d9fbdac3 g.chr2:190584441A>C uc002uqw.2 + 10 2456 c.2368A>C c.(2368-2370)Aac>Cac p.N790H ANKAR_uc002uqu.3_Non-coding_Transcript|ANKAR_uc002uqx.2_Non-coding_Transcript NM_144708 NP_653309 Q7Z5J8 ANKAR_HUMAN Homo sapiens ankyrin and armadillo repeat containing (ANKAR), mRNA. 790 integral to membrane binding breast(3)|central_nervous_system(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(7)|liver(2)|lung(16)|ovary(2)|pancreas(1)|skin(1)|urinary_tract(2) 46 OV - Ovarian serous cystadenocarcinoma(117;0.00156)|Epithelial(96;0.0256)|all cancers(119;0.0744) ATCTCTAATCAACCTACTGGT 0.408000 37 24 0 0 0.000878237 0 0 GALNT2 2590 broad.mit.edu 37 1 230338945 230338946 + Missense_Mutation DNP GG AA AA TCGA-EE-A3AC-06A-11D-A196-08 TCGA-EE-A3AC-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 883d623b-c427-4444-9ee3-66d18648130f f8f00311-8db5-4187-bcb8-5054d9fbdac3 g.chr1:230338945_230338946GG>AA uc010pwa.1 + 2 355_356 c.283_284GG>AA c.(283-285)ggg>AAg p.G95K GALNT2_uc010pvy.1_Missense_Mutation_p.G57K|GALNT2_uc010pvz.1_Non-coding_Transcript NM_004481 NP_004472 Q10471 GALT2_HUMAN Homo sapiens UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase 2 (GalNAc-T2) (GALNT2), mRNA. 95 immunoglobulin biosynthetic process|protein O-linked glycosylation via serine|protein O-linked glycosylation via threonine Golgi cisterna membrane|extracellular region|integral to Golgi membrane|perinuclear region of cytoplasm manganese ion binding|polypeptide N-acetylgalactosaminyltransferase activity|sugar binding breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(10)|ovary(2)|prostate(5)|skin(2) 32 Breast(184;0.193)|Ovarian(103;0.249) all_cancers(173;0.156)|Prostate(94;0.179) GGTCCGCTCCGGGCAGGACCCT 0.545000 108 36 0 0 6.4e-05 0 0 GNAS 2778 broad.mit.edu 37 20 57430064 57430064 + Missense_Mutation SNP G A A TCGA-EE-A3AC-06A-11D-A196-08 TCGA-EE-A3AC-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 883d623b-c427-4444-9ee3-66d18648130f f8f00311-8db5-4187-bcb8-5054d9fbdac3 g.chr20:57430064G>A uc002xzw.3 + 0 2029 c.1744G>A c.(1744-1746)Gac>Aac p.D582N GNAS_uc021wfl.1_Intron|GNAS_uc002xzt.3_Intron|GNAS_uc010gjq.3_Intron|GNAS_uc002xzv.3_Non-coding_Transcript NM_080425 NP_001070958 P63092 GNAS2_HUMAN Homo sapiens GNAS complex locus (GNAS), transcript variant 2, mRNA. 0 G-protein coupled receptor protein signaling pathway|activation of adenylate cyclase activity|cellular response to glucagon stimulus|energy reserve metabolic process|intracellular transport|platelet activation|regulation of insulin secretion|sensory perception of smell|transmembrane transport|water transport heterotrimeric G-protein complex|intrinsic to membrane|trans-Golgi network membrane GTP binding|GTPase activity|adenylate cyclase activity|guanyl-nucleotide exchange factor activity|identical protein binding|signal transducer activity adrenal_gland(12)|autonomic_ganglia(1)|biliary_tract(5)|central_nervous_system(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(4)|kidney(7)|large_intestine(37)|liver(9)|lung(9)|ovary(16)|pancreas(56)|parathyroid(5)|pituitary(228)|prostate(2)|small_intestine(1)|stomach(1)|testis(2)|thyroid(35)|upper_aerodigestive_tract(3)|urinary_tract(1) 441 all_lung(29;0.0104) BRCA - Breast invasive adenocarcinoma(13;2.19e-08)|Colorectal(105;0.109) AGACGAGTCCGACGATGGGAC 0.657000 Mis pituitary adenoma """McCune-Albright syndrome; pseudohypoparathyroidism, type IA""" TSP Lung(22;0.16) 32 10 0 0 0.000442599 0 0 PPEF2 5470 broad.mit.edu 37 4 76793176 76793176 + Splice_Site SNP G A A TCGA-EE-A3AC-06A-11D-A196-08 TCGA-EE-A3AC-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 883d623b-c427-4444-9ee3-66d18648130f f8f00311-8db5-4187-bcb8-5054d9fbdac3 g.chr4:76793176G>A uc003hix.3 - 13 2006 c.1649_splice c.e13+1 p.R550_splice PPEF2_uc003hiy.3_Splice_Site|PPEF2_uc003hiz.1_Splice_Site_p.R550_splice NM_006239 NP_006230 O14830 PPE2_HUMAN Homo sapiens protein phosphatase, EF-hand calcium binding domain 2 (PPEF2), mRNA. 550 detection of stimulus involved in sensory perception|negative regulation of MAPKKK cascade|negative regulation of peptidyl-threonine phosphorylation|protein dephosphorylation|visual perception cytoplasm|photoreceptor inner segment|photoreceptor outer segment Hsp70 protein binding|Hsp90 protein binding|calcium ion binding|iron ion binding|manganese ion binding|mitogen-activated protein kinase kinase kinase binding|protein serine/threonine phosphatase activity breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(7)|lung(25)|ovary(2)|pancreas(1)|prostate(4)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(2) 50 Lung(101;0.0809)|LUSC - Lung squamous cell carcinoma(112;0.0934) GAAAAGTCTTGCCTTTGCCTC 0.403000 57 19 0 0 0.00229938 0 0 C2orf16 84226 broad.mit.edu 37 2 27803256 27803256 + Missense_Mutation SNP G A A TCGA-EE-A3AC-06A-11D-A196-08 TCGA-EE-A3AC-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 883d623b-c427-4444-9ee3-66d18648130f f8f00311-8db5-4187-bcb8-5054d9fbdac3 g.chr2:27803256G>A uc002rkz.4 + 0 3868 c.3817G>A c.(3817-3819)Gaa>Aaa p.E1273K ZNF512_uc010ylw.2_5'Flank|ZNF512_uc002rlb.3_5'Flank|ZNF512_uc010ylx.2_5'Flank|ZNF512_uc002rlc.3_5'Flank|ZNF512_uc002rla.3_5'Flank|ZNF512_uc010ylv.2_5'Flank|ZNF512_uc010yly.1_5'Flank|ZNF512_uc010ylz.2_5'Flank NM_032266 NP_115642 Q68DN1 CB016_HUMAN Homo sapiens chromosome 2 open reading frame 16 (C2orf16), mRNA. 1273 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) CACTCAGAATGAAAAACGGGC 0.398000 79 37 0 0 0.00170553 0 0 ATP12A 479 broad.mit.edu 37 13 25262538 25262538 + Missense_Mutation SNP A T T TCGA-EE-A3AC-06A-11D-A196-08 TCGA-EE-A3AC-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 883d623b-c427-4444-9ee3-66d18648130f f8f00311-8db5-4187-bcb8-5054d9fbdac3 g.chr13:25262538A>T uc010aaa.3 + 3 643 c.310A>T c.(310-312)Atc>Ttc p.I104F ATP12A_uc001upp.3_Missense_Mutation_p.I104F NM_001185085 NP_001172014 P54707 AT12A_HUMAN Homo sapiens ATPase, H+/K+ transporting, nongastric, alpha polypeptide (ATP12A), transcript variant 1, mRNA. 104 ATP biosynthetic process hydrogen:potassium-exchanging ATPase complex ATP binding|hydrogen:potassium-exchanging ATPase activity|metal ion binding breast(6)|central_nervous_system(4)|endometrium(3)|kidney(5)|large_intestine(23)|lung(23)|ovary(2)|pancreas(1)|prostate(2)|skin(5) 74 Lung SC(185;0.0225)|Breast(139;0.077) all cancers(112;0.0307)|Epithelial(112;0.086)|OV - Ovarian serous cystadenocarcinoma(117;0.228) Esomeprazole(DB00736)|Pantoprazole(DB00213) GACGCCTGAGATCGTCAAGTT 0.592000 149 105 0 0 0.000781405 0 0 TAF6 6878 broad.mit.edu 37 7 99707825 99707825 + Missense_Mutation SNP C T T TCGA-EE-A3AC-06A-11D-A196-08 TCGA-EE-A3AC-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 883d623b-c427-4444-9ee3-66d18648130f f8f00311-8db5-4187-bcb8-5054d9fbdac3 g.chr7:99707825C>T uc003uth.3 - 9 1464 c.1327G>A c.(1327-1329)Gat>Aat p.D443N AP4M1_uc003utd.3_3'UTR|TAF6_uc003utg.3_Missense_Mutation_p.D308N|TAF6_uc003utm.3_Missense_Mutation_p.D386N|TAF6_uc003uti.3_Missense_Mutation_p.D386N|TAF6_uc003utk.3_Missense_Mutation_p.D386N|TAF6_uc011kji.2_Missense_Mutation_p.D423N NM_139315 NP_647476 P49848 TAF6_HUMAN Homo sapiens TAF6 RNA polymerase II, TATA box binding protein (TBP)-associated factor, 80kDa (TAF6), transcript variant 2, mRNA. 386 negative regulation of cell cycle|negative regulation of cell proliferation|regulation of sequence-specific DNA binding transcription factor activity|transcription elongation from RNA polymerase II promoter|transcription initiation from RNA polymerase II promoter|viral reproduction MLL1 complex|cytoplasm|transcription factor TFIID complex|transcription factor TFTC complex DNA binding|protein binding|sequence-specific DNA binding transcription factor activity breast(2)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(5)|liver(1)|lung(7)|ovary(2)|pancreas(1)|prostate(1)|urinary_tract(2) 26 Lung NSC(181;0.0181)|all_lung(186;0.0284)|Esophageal squamous(72;0.0439) GGCCTAACATCGTGTCCCAGC 0.572000 158 77 0 0 0.000781405 0 0 SERPINB2 5055 broad.mit.edu 37 18 61570430 61570430 + Missense_Mutation SNP G A A TCGA-EE-A3AC-06A-11D-A196-08 TCGA-EE-A3AC-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 883d623b-c427-4444-9ee3-66d18648130f f8f00311-8db5-4187-bcb8-5054d9fbdac3 g.chr18:61570430G>A uc010xeu.2 + 8 1472 c.1139G>A c.(1138-1140)aGa>aAa p.R380K SERPINB2_uc002ljo.3_Missense_Mutation_p.R380K|SERPINB2_uc002ljp.1_Intron|SERPINB2_uc002ljq.1_Intron NM_001143818 NP_002566 P05120 PAI2_HUMAN Homo sapiens serpin peptidase inhibitor, clade B (ovalbumin), member 2 (SERPINB2), transcript variant 1, mRNA. 380 Reactive bond. anti-apoptosis|blood coagulation|fibrinolysis|regulation of proteolysis Golgi apparatus|extracellular space|plasma membrane serine-type endopeptidase inhibitor activity NS(1)|central_nervous_system(2)|endometrium(4)|large_intestine(7)|liver(1)|lung(12)|prostate(2)|skin(2)|stomach(1) 32 Esophageal squamous(42;0.131) Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Tenecteplase(DB00031)|Urokinase(DB00013) ATGACAGGGAGAACTGGACAT 0.453000 29 19 0 0 0.00121646 0 0 MACC1 346389 broad.mit.edu 37 7 20199263 20199263 + Missense_Mutation SNP C G G TCGA-EE-A3AC-06A-11D-A196-08 TCGA-EE-A3AC-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 883d623b-c427-4444-9ee3-66d18648130f f8f00311-8db5-4187-bcb8-5054d9fbdac3 g.chr7:20199263C>G uc003sus.4 - 4 1030 c.721G>C c.(721-723)Gtg>Ctg p.V241L MACC1_uc010kug.3_Missense_Mutation_p.V241L NM_182762 NP_877439 Q6ZN28 MACC1_HUMAN Homo sapiens metastasis associated in colon cancer 1 (MACC1), mRNA. 241 positive regulation of cell division|regulation of transcription, DNA-dependent|transcription, DNA-dependent cytoplasm|nucleus|plasma membrane growth factor activity endometrium(1)|kidney(1)|large_intestine(15)|lung(12)|ovary(2)|prostate(1)|skin(3)|soft_tissue(1)|stomach(2)|upper_aerodigestive_tract(1) 39 CCCACAGCCACATGACCTTGG 0.488000 40 14 0 0 0.000422831 0 0 CLIP1 6249 broad.mit.edu 37 12 122825945 122825945 + Silent SNP G A A TCGA-EE-A3AC-06A-11D-A196-08 TCGA-EE-A3AC-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 883d623b-c427-4444-9ee3-66d18648130f f8f00311-8db5-4187-bcb8-5054d9fbdac3 g.chr12:122825945G>A uc001ucg.2 - 10 1961 c.1806C>T c.(1804-1806)aaC>aaT p.N602N CLIP1_uc001uch.1_Silent_p.N591N|CLIP1_uc001uci.1_Silent_p.N556N|CLIP1_uc001ucj.1_Silent_p.N292N|CLIP1_uc009zxo.1_Silent_p.N158N NM_001247997 NP_001234926 P30622 CLIP1_HUMAN Homo sapiens CAP-GLY domain containing linker protein 1 (CLIP1), transcript variant 3, mRNA. 602 mitotic prometaphase|positive regulation of microtubule polymerization centrosome|cytosol|endosome|intermediate filament|kinetochore nucleic acid binding|protein homodimerization activity|zinc ion binding NS(1)|breast(5)|endometrium(4)|kidney(5)|large_intestine(16)|liver(1)|lung(21)|ovary(2)|prostate(3)|upper_aerodigestive_tract(1)|urinary_tract(1) 60 all_neural(191;0.0837)|Medulloblastoma(191;0.163) OV - Ovarian serous cystadenocarcinoma(86;1.81e-05)|Epithelial(86;6.85e-05)|BRCA - Breast invasive adenocarcinoma(302;0.226) TCAATGACTCGTTCTCTTTGG 0.468000 93 53 0 0 0.000781405 0 0 OR4N3P 390539 broad.mit.edu 37 15 22413721 22413721 + Missense_Mutation SNP C T T TCGA-EE-A3AC-06A-11D-A196-08 TCGA-EE-A3AC-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 883d623b-c427-4444-9ee3-66d18648130f f8f00311-8db5-4187-bcb8-5054d9fbdac3 g.chr15:22413721C>T uc001yuf.3 + 0 260 c.20C>T c.(19-21)tCt>tTt p.S7F abParts_uc001yuj.2_Intron Homo sapiens olfactory receptor, family 4, subfamily N, member 3 pseudogene (OR4N3P), non-coding RNA. GACTTCCTCTCTGAGAAGAAG 0.507000 137 21 0 0 0.00106085 0 0 TECR 9524 broad.mit.edu 37 19 14676599 14676599 + Nonsense_Mutation SNP G A A TCGA-EE-A3AC-06A-11D-A196-08 TCGA-EE-A3AC-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 883d623b-c427-4444-9ee3-66d18648130f f8f00311-8db5-4187-bcb8-5054d9fbdac3 g.chr19:14676599G>A uc002mza.3 + 12 973 c.843G>A c.(841-843)tgG>tgA p.W281* TECR_uc010xns.2_Nonsense_Mutation_p.W126*|TECR_uc002mzc.3_Nonsense_Mutation_p.W126*|TECR_uc002mzb.3_Nonsense_Mutation_p.W296*|TECR_uc002mze.3_Nonsense_Mutation_p.W107* NM_138501 NP_612510 Q9NZ01 TECR_HUMAN Homo sapiens trans-2,3-enoyl-CoA reductase (TECR), transcript variant 1, mRNA. 281 fatty acid elongation|long-chain fatty-acyl-CoA biosynthetic process|triglyceride biosynthetic process|very long-chain fatty acid biosynthetic process integral to endoplasmic reticulum membrane trans-2-enoyl-CoA reductase (NADPH) activity|very long-chain-acyl-CoA dehydrogenase activity endometrium(1)|large_intestine(1)|ovary(1) 3 TGACCATCTGGGCCAAGGGCA 0.682000 3 4 0 0 0.00116845 0 0 JUP 3728 broad.mit.edu 37 17 39913718 39913718 + Silent SNP G A A TCGA-EE-A3AC-06A-11D-A196-08 TCGA-EE-A3AC-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 883d623b-c427-4444-9ee3-66d18648130f f8f00311-8db5-4187-bcb8-5054d9fbdac3 g.chr17:39913718G>A uc002hxq.2 - 11 2272 c.1995C>T c.(1993-1995)tcC>tcT p.S665S JUP_uc010wfs.2_Intron|JUP_uc002hxr.2_Silent_p.S665S|JUP_uc002hxs.2_Silent_p.S665S NM_021991 NP_068831 P14923 PLAK_HUMAN Homo sapiens junction plakoglobin (JUP), transcript variant 2, mRNA. 665 adherens junction organization|atrioventricular valve morphogenesis|cell migration|cell morphogenesis|cellular response to indole-3-methanol|cytoskeletal anchoring at plasma membrane|detection of mechanical stimulus|ectoderm development|endothelial cell-cell adhesion|gastrulation|morphogenesis of embryonic epithelium|negative regulation of Wnt receptor signaling pathway involved in heart development|negative regulation of heart induction by canonical Wnt receptor signaling pathway|nervous system development|oocyte development|positive regulation of protein import into nucleus|positive regulation of sequence-specific DNA binding transcription factor activity|skin development Axin-APC-beta-catenin-GSK3B complex|Z disc|actin cytoskeleton|basolateral plasma membrane|catenin complex|desmosome|fascia adherens|gamma-catenin-TCF7L2 complex|internal side of plasma membrane|nucleus|protein-DNA complex|zonula adherens RPTP-like protein binding|alpha-catenin binding|cadherin binding|protein homodimerization activity|protein kinase binding|protein phosphatase binding|specific RNA polymerase II transcription factor activity|transcription coactivator activity breast(1)|central_nervous_system(1)|endometrium(5)|kidney(2)|large_intestine(4)|lung(6)|ovary(3)|upper_aerodigestive_tract(1) 23 Breast(137;0.000162) BRCA - Breast invasive adenocarcinoma(4;0.233) BRCA - Breast invasive adenocarcinoma(366;0.15) TGAGCTCCACGGACACGCGCT 0.582000 72 29 0 0 0.0024448 0 0 FSHR 2492 broad.mit.edu 37 2 49295372 49295372 + Silent SNP C T T TCGA-EE-A3AC-06A-11D-A196-08 TCGA-EE-A3AC-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 883d623b-c427-4444-9ee3-66d18648130f f8f00311-8db5-4187-bcb8-5054d9fbdac3 g.chr2:49295372C>T uc002rww.3 - 1 320 c.210G>A c.(208-210)ggG>ggA p.G70G FSHR_uc010fbn.3_Silent_p.G70G|FSHR_uc002rwx.3_Silent_p.G70G|FSHR_uc010fbo.2_Non-coding_Transcript NM_000145 NP_000136 P23945 FSHR_HUMAN Homo sapiens follicle stimulating hormone receptor (FSHR), transcript variant 1, mRNA. 70 female gamete generation|male gonad development|spermatogenesis integral to membrane|plasma membrane follicle-stimulating hormone receptor activity|protein binding NS(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(10)|liver(1)|lung(45)|ovary(4)|pancreas(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2) 73 all_hematologic(82;0.152)|Acute lymphoblastic leukemia(82;0.181) Lung(47;0.101)|LUSC - Lung squamous cell carcinoma(58;0.151) Choriogonadotropin alfa(DB00097)|Follitropin beta(DB00066)|Menotropins(DB00032)|Urofollitropin(DB00094) TCTCCAGGTCCCCAAATCCTG 0.443000 Gonadal Dysgenesis, 46 XX 29 15 0 0 0.000566183 0 0 KIAA1383 54627 broad.mit.edu 37 1 232941695 232941695 + Missense_Mutation SNP G A A TCGA-EE-A3AC-06A-11D-A196-08 TCGA-EE-A3AC-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 883d623b-c427-4444-9ee3-66d18648130f f8f00311-8db5-4187-bcb8-5054d9fbdac3 g.chr1:232941695G>A uc001hvh.2 + 0 1058 c.926G>A c.(925-927)cGa>cAa p.R309Q NM_019090 NP_061963 Q9P2G4 K1383_HUMAN Homo sapiens KIAA1383 (KIAA1383), mRNA. 167 breast(1)|endometrium(3)|kidney(1)|large_intestine(6)|lung(8)|ovary(1) 20 all_cancers(173;0.00528)|Prostate(94;0.122)|all_epithelial(177;0.169) CTGCATAATCGAGTGGGCGAG 0.687000 21 5 0 0 0.00198382 0 0 PRDM9 56979 broad.mit.edu 37 5 23518019 23518019 + Missense_Mutation SNP G A A TCGA-EE-A3AC-06A-11D-A196-08 TCGA-EE-A3AC-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 883d623b-c427-4444-9ee3-66d18648130f f8f00311-8db5-4187-bcb8-5054d9fbdac3 g.chr5:23518019G>A uc003jgo.3 + 4 513 c.331G>A c.(331-333)Gaa>Aaa p.E111K NM_020227 NP_064612 Q9NQV7 PRDM9_HUMAN Homo sapiens PR domain containing 9 (PRDM9), mRNA. 111 meiosis|regulation of transcription, DNA-dependent|transcription, DNA-dependent chromosome|nucleoplasm histone-lysine N-methyltransferase activity|nucleic acid binding|zinc ion binding NS(1)|breast(1)|central_nervous_system(3)|endometrium(15)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(27)|lung(87)|ovary(6)|pancreas(2)|prostate(4)|skin(10)|upper_aerodigestive_tract(11) 172 CTTAAGAGTGGAACAGCGTAA 0.408000 HNSCC(3;0.000094) 73 57 0 0 0.000781405 0 0 POF1B 79983 broad.mit.edu 37 X 84560875 84560875 + Missense_Mutation SNP C T T TCGA-EE-A3AC-06A-11D-A196-08 TCGA-EE-A3AC-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 883d623b-c427-4444-9ee3-66d18648130f f8f00311-8db5-4187-bcb8-5054d9fbdac3 g.chrX:84560875C>T uc004eer.2 - 12 1505 c.1359G>A c.(1357-1359)atG>atA p.M453I POF1B_uc004ees.3_Missense_Mutation_p.M453I NM_024921 NP_079197 Q8WVV4 POF1B_HUMAN Homo sapiens premature ovarian failure, 1B (POF1B), mRNA. 453 actin binding central_nervous_system(4)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(3)|liver(2)|lung(17)|ovary(1)|prostate(1) 35 CAATCTCATCCATTTTAGCCT 0.393000 2 13 0 0 0.00185496 0 0 RCAN2 10231 broad.mit.edu 37 6 46216547 46216547 + Silent SNP G A A TCGA-EE-A3AC-06A-11D-A196-08 TCGA-EE-A3AC-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 883d623b-c427-4444-9ee3-66d18648130f f8f00311-8db5-4187-bcb8-5054d9fbdac3 g.chr6:46216547G>A uc003oyc.2 - 2 465 c.312C>T c.(310-312)ttC>ttT p.F104F RCAN2_uc003oyb.2_Silent_p.F58F|RCAN2_uc003oyd.2_Silent_p.F104F NM_001251974 NP_001238903 Q14206 RCAN2_HUMAN Homo sapiens regulator of calcineurin 2 (RCAN2), transcript variant 2, mRNA. 58 calcium-mediated signaling|central nervous system development nucleotide binding|protein phosphatase 2B binding endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1) 8 TAGGATTGCTGAAGTTTATAC 0.393000 25 10 0 0 0.000442599 0 0 C9 735 broad.mit.edu 37 5 39315879 39315879 + Missense_Mutation SNP T G G TCGA-EE-A3AC-06A-11D-A196-08 TCGA-EE-A3AC-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 883d623b-c427-4444-9ee3-66d18648130f f8f00311-8db5-4187-bcb8-5054d9fbdac3 g.chr5:39315879T>G uc003jlv.4 - 5 957 c.868A>C c.(868-870)Aag>Cag p.K290Q NM_001737 NP_001728 P02748 CO9_HUMAN Homo sapiens complement component 9 (C9), mRNA. 290 MACPF. complement activation, alternative pathway|complement activation, classical pathway|cytolysis|hemolysis by symbiont of host erythrocytes extracellular region|membrane attack complex central_nervous_system(1)|endometrium(2)|large_intestine(6)|lung(17)|prostate(3)|skin(2)|upper_aerodigestive_tract(1) 32 all_lung(31;0.000197) all_neural(839;7.57e-10)|Lung NSC(810;2.62e-08)|Ovarian(839;0.00384)|Breast(839;0.0184)|Myeloproliferative disorder(839;0.0511) Epithelial(62;0.158) TGTCTTACCTTCTTTGAAGAA 0.313000 12 6 0 0 0.00116845 0 0 PCDHAC2 56134 broad.mit.edu 37 5 140188067 140188067 + Missense_Mutation SNP C T T TCGA-EE-A3AC-06A-11D-A196-08 TCGA-EE-A3AC-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 883d623b-c427-4444-9ee3-66d18648130f f8f00311-8db5-4187-bcb8-5054d9fbdac3 g.chr5:140188067C>T uc003lhi.2 + 0 1396 c.1295C>T c.(1294-1296)tCg>tTg p.S432L PCDHAC2_uc003lha.2_Intron|PCDHAC2_uc003lhb.2_Intron|PCDHAC2_uc003lhd.2_Intron|PCDHAC2_uc003lhf.2_Intron|PCDHAC2_uc003lhh.1_Missense_Mutation_p.S432L|PCDHAC2_uc011daa.2_Missense_Mutation_p.S432L NM_018907 NP_061730 Q9Y5I4 PCDC2_HUMAN Homo sapiens protocadherin alpha 4 (PCDHA4), transcript variant 1, mRNA. 446 Cadherin 4. homophilic cell adhesion|nervous system development integral to plasma membrane calcium ion binding p.S432L(2) NS(1)|breast(1)|endometrium(4)|kidney(4)|large_intestine(10)|liver(2)|lung(9)|ovary(2)|prostate(1)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(1) 45 KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191) GACGGGGGCTCGCCTTCGCTG 0.617000 66 37 0 0 0.00128727 0 0 THAP3 90326 broad.mit.edu 37 1 6693007 6693008 + Frame_Shift_Del DEL AG - - TCGA-EE-A3AC-06A-11D-A196-08 TCGA-EE-A3AC-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 883d623b-c427-4444-9ee3-66d18648130f f8f00311-8db5-4187-bcb8-5054d9fbdac3 g.chr1:6693007_6693008delAG uc001aoc.3 + 5 749_750 c.590_591delAG c.(589-591)aagfs p.K197fs THAP3_uc001aod.3_Frame_Shift_Del_p.K196fs|THAP3_uc001aoe.2_Intron NM_001195753 NP_001182682 Q8WTV1 THAP3_HUMAN Homo sapiens THAP domain containing, apoptosis associated protein 3 (THAP3), transcript variant 3, mRNA. 197 DNA binding|metal ion binding breast(1)|cervix(1)|large_intestine(1)|prostate(1) 4 Ovarian(185;0.0212)|all_lung(157;0.154) all_cancers(23;7.39e-28)|all_epithelial(116;1.76e-17)|all_lung(118;2.27e-05)|Lung NSC(185;9.97e-05)|Renal(390;0.00188)|Breast(487;0.00289)|Colorectal(325;0.00342)|Hepatocellular(190;0.0218)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.156) Colorectal(212;1.29e-07)|COAD - Colon adenocarcinoma(227;1.33e-05)|Kidney(185;4.89e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000513)|KIRC - Kidney renal clear cell carcinoma(229;0.000896)|STAD - Stomach adenocarcinoma(132;0.0167)|READ - Rectum adenocarcinoma(331;0.0642) CTCACTCTGAAGGAAAATGAAA 0.554 --- 32 --- --- 16 --- MYT1L 23040 broad.mit.edu 37 2 1947053 1947053 + Frame_Shift_Del DEL T - - TCGA-EE-A3AC-06A-11D-A196-08 TCGA-EE-A3AC-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 883d623b-c427-4444-9ee3-66d18648130f f8f00311-8db5-4187-bcb8-5054d9fbdac3 g.chr2:1947053delT uc002qxe.3 - 8 1033 c.206delA c.(205-207)cagfs p.Q69fs MYT1L_uc002qxd.3_Frame_Shift_Del_p.Q69fs NM_015025 NP_055840 Q9UL68 MYT1L_HUMAN Homo sapiens myelin transcription factor 1-like (MYT1L), mRNA. 69 cell differentiation|nervous system development nucleus DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding breast(1)|central_nervous_system(1)|cervix(2)|endometrium(5)|kidney(6)|large_intestine(16)|lung(50)|ovary(5)|prostate(2)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(2) 97 Acute lymphoblastic leukemia(172;0.0627)|all_hematologic(175;0.0797) all_cancers(51;0.037)|all_epithelial(98;0.241) OV - Ovarian serous cystadenocarcinoma(76;0.169)|all cancers(51;0.244) AGCAGGTTCCTGGGGCTGTTT 0.433 --- 4 --- --- 2 --- ARHGAP15 55843 broad.mit.edu 37 2 144461039 144461040 + Frame_Shift_Ins INS - ACTC ACTC TCGA-EE-A3AC-06A-11D-A196-08 TCGA-EE-A3AC-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 883d623b-c427-4444-9ee3-66d18648130f f8f00311-8db5-4187-bcb8-5054d9fbdac3 g.chr2:144461039_144461040insACTC uc002tvm.4 + 12 1341_1342 c.1190_1191insACTC c.(1189-1191)aaafs p.K397fs ARHGAP15_uc002tvn.3_Frame_Shift_Ins_p.K163fs NM_018460 NP_060930 Q53QZ3 RHG15_HUMAN Homo sapiens Rho GTPase activating protein 15 (ARHGAP15), mRNA. 397 Rho-GAP. regulation of cell shape|small GTPase mediated signal transduction cytosol|membrane Rac GTPase activator activity|protein binding endometrium(1)|kidney(5)|large_intestine(8)|liver(2)|lung(15)|ovary(1)|skin(2) 34 BRCA - Breast invasive adenocarcinoma(221;0.151) CTTGTACAAAAACTCCCTCCGC 0.342 --- 20 --- --- 10 --- MITF 4286 broad.mit.edu 37 3 69986995 69986997 + In_Frame_Del DEL CCA - - TCGA-EE-A3AC-06A-11D-A196-08 TCGA-EE-A3AC-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 883d623b-c427-4444-9ee3-66d18648130f f8f00311-8db5-4187-bcb8-5054d9fbdac3 g.chr3:69986995_69986997delCCA uc003dnz.3 + 2 540_542 c.377_379delCCA c.(376-381)cccacc>ccc p.T127del MITF_uc011bgb.2_In_Frame_Del_p.T75del|MITF_uc003doa.3_In_Frame_Del_p.T126del|MITF_uc003dob.3_In_Frame_Del_p.T111del|MITF_uc021xam.1_In_Frame_Del_p.T20del|MITF_uc003doe.3_In_Frame_Del_p.T20del|MITF_uc003dof.3_In_Frame_Del_p.T20del|MITF_uc021xal.1_In_Frame_Del_p.T20del NM_198159 NP_001171896 O75030 MITF_HUMAN Homo sapiens microphthalmia-associated transcription factor (MITF), transcript variant 1, mRNA. 127 melanocyte differentiation|multicellular organismal development|protein complex assembly nucleus|protein complex DNA binding|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription|protein binding NS(1)|autonomic_ganglia(1)|endometrium(3)|kidney(1)|large_intestine(8)|lung(5)|ovary(2)|skin(6)|stomach(1)|urinary_tract(2) 30 Lung NSC(201;0.0384)|Prostate(884;0.0526) BRCA - Breast invasive adenocarcinoma(55;3.07e-05)|Epithelial(33;0.000138)|LUSC - Lung squamous cell carcinoma(21;0.008)|Lung(16;0.0107)|KIRC - Kidney renal clear cell carcinoma(39;0.204)|Kidney(39;0.239) CTCGAAAACCCCACCAAGTACCA 0.488 A melanoma """Waardenburg syndrome type 2, Tietz syndrome""" --- 32 --- --- 11 --- SSPO 23145 broad.mit.edu 37 7 149476670 149476671 + Frame_Shift_Ins INS - A A rs66769486 TCGA-EE-A3AC-06A-11D-A196-08 TCGA-EE-A3AC-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 883d623b-c427-4444-9ee3-66d18648130f f8f00311-8db5-4187-bcb8-5054d9fbdac3 g.chr7:149476670_149476671insA uc010lpk.3 + 9 1120_1121 c.1120_1121insA c.(1120-1122)ctgfs p.L374fs SSPO_uc010lpl.1_Intron NM_198455 NP_940857 A2VEC9 SSPO_HUMAN Homo sapiens SCO-spondin homolog (Bos taurus) (SSPO), mRNA. 374 VWFD 1. cell adhesion extracellular space peptidase inhibitor activity Melanoma(164;0.165)|Ovarian(565;0.177) OV - Ovarian serous cystadenocarcinoma(82;0.00625) GTGACAGCCCCTGGGGCTCATA 0.619 --- 4 --- --- 3 --- CNTRL 11064 broad.mit.edu 37 9 123860722 123860722 + Frame_Shift_Del DEL A - - TCGA-EE-A3AC-06A-11D-A196-08 TCGA-EE-A3AC-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 883d623b-c427-4444-9ee3-66d18648130f f8f00311-8db5-4187-bcb8-5054d9fbdac3 g.chr9:123860722delA uc004bkx.1 + 4 711 c.680delA c.(679-681)gaafs p.E227fs CNTRL_uc004bkw.2_Frame_Shift_Del_p.E227fs NM_007018 NP_008949 Q7Z7A1 CNTRL_HUMAN Homo sapiens centriolin (CNTRL), mRNA. 227 G2/M transition of mitotic cell cycle|cell division centrosome|cytosol protein binding haematopoietic_and_lymphoid_tissue(2)|large_intestine(9)|lung(2)|ovary(4)|skin(3) 20 ATCCTAGTTGAAAATCCAGTT 0.368 --- 72 --- --- 22 --- MALAT1 378938 broad.mit.edu 37 11 65269783 65269784 + RNA INS - T T TCGA-EE-A3AC-06A-11D-A196-08 TCGA-EE-A3AC-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 883d623b-c427-4444-9ee3-66d18648130f f8f00311-8db5-4187-bcb8-5054d9fbdac3 g.chr11:65269783_65269784insT uc001odz.3 + 0 c.226_227insT MALAT1_uc010roh.2_Non-coding_Transcript|AF113016_uc001ody.3_Non-coding_Transcript Homo sapiens cDNA clone IMAGE:4291796, **** WARNING: chimeric clone ****. TAATTTAAAACTACTATAGAAA 0.312 --- 28 --- --- 13 --- ZC3H4 23211 broad.mit.edu 37 19 47589699 47589713 + In_Frame_Del DEL CCTCTGCCCCTGCCT - - rs653615 TCGA-EE-A3AC-06A-11D-A196-08 TCGA-EE-A3AC-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 883d623b-c427-4444-9ee3-66d18648130f f8f00311-8db5-4187-bcb8-5054d9fbdac3 g.chr19:47589699_47589713delCCTCTGCCCCTGCCT uc002pga.4 - 5 836_850 c.798_812delAGGCAGGGGCAGAGG c.(796-813)cgaggcaggggcagaggc>cgc p.GRGRG267del ZC3H4_uc002pgb.1_Intron NM_015168 NP_055983 Q9UPT8 ZC3H4_HUMAN Homo sapiens zinc finger CCCH-type containing 4 (ZC3H4), mRNA. 267 Gly-rich. nucleic acid binding|zinc ion binding p.G267D(2)|p.R266*(1) NS(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(6)|lung(13)|ovary(4)|prostate(2)|skin(7)|upper_aerodigestive_tract(1) 41 all_cancers(25;3.3e-08)|all_epithelial(76;2.28e-06)|all_lung(116;7.86e-06)|Lung NSC(112;2.31e-05)|all_neural(266;0.026)|Ovarian(192;0.0392)|Breast(70;0.0889) OV - Ovarian serous cystadenocarcinoma(262;5.76e-05)|all cancers(93;7.69e-05)|Epithelial(262;0.00354)|GBM - Glioblastoma multiforme(486;0.0372) TCCCATAGAGCCTCTGCCCCTGCCTCGGCTGCCCC 0.665 --- 41 --- --- 21 ---