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 MECOM 2122 broad.mit.edu 37 3 168807883 168807883 + Silent SNP C T T TCGA-D3-A2JA-06A-11D-A196-08 TCGA-D3-A2JA-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx f961ddcc-fb01-4ad1-974e-ccb2656a328e a6cc66c4-23a1-43c8-9989-be2c10aa4f63 g.chr3:168807883C>T uc011bpj.1 - 14 3709 c.3306G>A c.(3304-3306)aaG>aaA p.K1102K MECOM_uc010hwk.1_Silent_p.K928K|MECOM_uc003ffj.3_Silent_p.K979K|MECOM_uc003ffi.3_Silent_p.K914K|MECOM_uc011bpi.1_Silent_p.K906K|MECOM_uc003ffn.3_Silent_p.K914K|MECOM_uc003ffk.2_Silent_p.K905K|MECOM_uc003ffl.2_Silent_p.K1065K|MECOM_uc011bpk.1_Silent_p.K914K 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 TCACTGGTTCCTTTCCTGTTT 0.428000 83 49 0 0 0.003610 0 0 KRT6B 3854 broad.mit.edu 37 12 52845395 52845395 + Silent SNP G A A TCGA-D3-A2JA-06A-11D-A196-08 TCGA-D3-A2JA-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx f961ddcc-fb01-4ad1-974e-ccb2656a328e a6cc66c4-23a1-43c8-9989-be2c10aa4f63 g.chr12:52845395G>A uc001sak.3 - 0 516 c.468C>T c.(466-468)atC>atT p.I156I NM_005555 NP_005546 P04259 K2C6B_HUMAN Homo sapiens keratin 6B (KRT6B), mRNA. 156 Head. ectoderm development keratin filament structural constituent of cytoskeleton NS(1)|breast(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(19)|ovary(4)|prostate(2) 40 BRCA - Breast invasive adenocarcinoma(357;0.083) GCACCCGCTGGATGGCGGGGT 0.617000 74 11 0 0 0.001523 0 0 AK124973 0 broad.mit.edu 37 3 196050869 196050869 + Missense_Mutation SNP C T T TCGA-D3-A2JA-06A-11D-A196-08 TCGA-D3-A2JA-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx f961ddcc-fb01-4ad1-974e-ccb2656a328e a6cc66c4-23a1-43c8-9989-be2c10aa4f63 g.chr3:196050869C>T uc003fwk.1 + 1 257 c.134C>T c.(133-135)cCt>cTt p.P45L TM4SF19_uc003fwj.3_Splice_Site|TM4SF19_uc010iad.2_Splice_Site_p.R149_splice|TM4SF19_uc003fwl.2_Intron|TM4SF19_uc021xjs.1_Intron|TM4SF19_uc011btv.2_Intron Homo sapiens cDNA FLJ42983 fis, clone BRTHA2008316. CAGATAATTCCTATCCCAAAA 0.547000 23 7 0 0 0.001984 0 0 PARP14 54625 broad.mit.edu 37 3 122419650 122419650 + Missense_Mutation SNP C G G TCGA-D3-A2JA-06A-11D-A196-08 TCGA-D3-A2JA-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx f961ddcc-fb01-4ad1-974e-ccb2656a328e a6cc66c4-23a1-43c8-9989-be2c10aa4f63 g.chr3:122419650C>G uc003efq.4 + 5 2308 c.2249C>G c.(2248-2250)gCc>gGc p.A750G PARP14_uc021xdc.1_Missense_Mutation_p.A614G|PARP14_uc010hrk.3_Non-coding_Transcript|PARP14_uc003efr.3_Missense_Mutation_p.A467G|PARP14_uc003efs.1_Missense_Mutation_p.A467G NM_017554 NP_060024 Q460N5 PAR14_HUMAN Homo sapiens poly (ADP-ribose) polymerase family, member 14 (PARP14), mRNA. 750 regulation of transcription, DNA-dependent|transcription, DNA-dependent cytoplasm|nucleus|plasma membrane NAD+ ADP-ribosyltransferase activity NS(2)|breast(5)|cervix(2)|endometrium(7)|kidney(5)|large_intestine(8)|lung(14)|ovary(2)|pancreas(1)|prostate(2)|skin(1)|urinary_tract(1) 50 GBM - Glioblastoma multiforme(114;0.0531) AAGCCAGGAGCCAAGCAGTTC 0.428000 18 17 0 0 0.004007 0 0 PEG3 5178 broad.mit.edu 37 19 57327090 57327090 + Missense_Mutation SNP C G G TCGA-D3-A2JA-06A-11D-A196-08 TCGA-D3-A2JA-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx f961ddcc-fb01-4ad1-974e-ccb2656a328e a6cc66c4-23a1-43c8-9989-be2c10aa4f63 g.chr19:57327090C>G uc002qnu.2 - 6 3071 c.2720G>C c.(2719-2721)aGt>aCt p.S907T PEG3_uc010ygr.1_Intron|PEG3_uc010ygq.1_Intron|PEG3_uc002qnr.2_Intron|PEG3_uc010etp.2_Intron|PEG3_uc010ygs.1_Intron|PEG3_uc002qnq.2_Intron|PEG3_uc002qnt.2_Missense_Mutation_p.S878T|PEG3_uc002qnv.2_Missense_Mutation_p.S907T|PEG3_uc002qnw.2_Missense_Mutation_p.S783T|PEG3_uc002qnx.2_Missense_Mutation_p.S781T|PEG3_uc010etr.2_Missense_Mutation_p.S907T NM_001146186 NP_001139657 Q9GZU2 PEG3_HUMAN Homo sapiens paternally expressed 3 (PEG3), transcript variant 4, mRNA. 907 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) TCCAGGAACACTTTTCTGAGG 0.463000 77 49 0 0 0.003610 0 0 PCDHAC2 56134 broad.mit.edu 37 5 140255408 140255408 + Silent SNP C T T TCGA-D3-A2JA-06A-11D-A196-08 TCGA-D3-A2JA-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx f961ddcc-fb01-4ad1-974e-ccb2656a328e a6cc66c4-23a1-43c8-9989-be2c10aa4f63 g.chr5:140255408C>T uc003lic.2 + 0 478 c.351C>T c.(349-351)ttC>ttT p.F117F 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_uc011daf.2_Silent_p.F117F NM_018903 NP_061726 Q9Y5I4 PCDC2_HUMAN Homo sapiens protocadherin alpha 12 (PCDHA12), transcript variant 1, mRNA. 132 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) TGCAGGTTTTCCATGTGGACG 0.562000 122 32 0 0 0.003271 0 0 TSIX 9383 broad.mit.edu 37 X 73040652 73040652 + RNA SNP C T T TCGA-D3-A2JA-06A-11D-A196-08 TCGA-D3-A2JA-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx f961ddcc-fb01-4ad1-974e-ccb2656a328e a6cc66c4-23a1-43c8-9989-be2c10aa4f63 g.chrX:73040652C>T uc004ebn.2 + 0 c.28613C>T XIST_uc004ebm.1_Non-coding_Transcript Homo sapiens TSIX transcript, XIST antisense RNA (non-protein coding) (TSIX), antisense RNA. TTCTGCATTTCACATCAGTTC 0.363000 7 11 0 0 0.008291 0 0 AGAP1 116987 broad.mit.edu 37 2 236949435 236949435 + Missense_Mutation SNP C T T TCGA-D3-A2JA-06A-11D-A196-08 TCGA-D3-A2JA-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx f961ddcc-fb01-4ad1-974e-ccb2656a328e a6cc66c4-23a1-43c8-9989-be2c10aa4f63 g.chr2:236949435C>T uc002vvs.3 + 14 2439 c.1841C>T c.(1840-1842)tCg>tTg p.S614L AGAP1_uc002vvt.3_Missense_Mutation_p.S561L NM_001037131 NP_001032208 Q9UPQ3 AGAP1_HUMAN Homo sapiens ArfGAP with GTPase domain, ankyrin repeat and PH domain 1 (AGAP1), transcript variant 1, mRNA. 614 Arf-GAP. protein transport|regulation of ARF GTPase activity|small GTPase mediated signal transduction cytoplasm ARF GTPase activator activity|GTP binding|zinc ion binding breast(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(12)|lung(11)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(1) 41 GCCCTGCAGTCGATCCGGAAC 0.622000 46 14 0 0 0.004990 0 0 EPHA2 1969 broad.mit.edu 37 1 16456043 16456043 + Missense_Mutation SNP A C C TCGA-D3-A2JA-06A-11D-A196-08 TCGA-D3-A2JA-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx f961ddcc-fb01-4ad1-974e-ccb2656a328e a6cc66c4-23a1-43c8-9989-be2c10aa4f63 g.chr1:16456043A>C uc001aya.2 - 15 2866 c.2711T>G c.(2710-2712)gTg>gGg p.V904G NM_004431 NP_004422 P29317 EPHA2_HUMAN Homo sapiens EPH receptor A2 (EPHA2), mRNA. 904 Mediates interaction with ARHGEF16 and ELMO2.|Negatively regulates interaction with ARHGEF16.|SAM. 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) GCGGAAGGGCACCCCCTCCGA 0.652000 28 8 0 0 0.004007 0 0 ZSCAN5B 342933 broad.mit.edu 37 19 56701318 56701318 + Missense_Mutation SNP C T T TCGA-D3-A2JA-06A-11D-A196-08 TCGA-D3-A2JA-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx f961ddcc-fb01-4ad1-974e-ccb2656a328e a6cc66c4-23a1-43c8-9989-be2c10aa4f63 g.chr19:56701318C>T uc010ygh.2 - 3 1366 c.1366G>A c.(1366-1368)Gtt>Att p.V456I NM_001080456 NP_001073925 A6NJL1 ZSA5B_HUMAN Homo sapiens zinc finger and SCAN domain containing 5B (ZSCAN5B), mRNA. 456 viral reproduction nucleus DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding breast(1)|endometrium(5)|large_intestine(3)|lung(23)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1) 37 CGCTGGTGAACGTTCAGGTTC 0.537000 35 19 0 0 0.001523 0 0 PLA2R1 22925 broad.mit.edu 37 2 160898621 160898621 + Silent SNP A C C TCGA-D3-A2JA-06A-11D-A196-08 TCGA-D3-A2JA-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx f961ddcc-fb01-4ad1-974e-ccb2656a328e a6cc66c4-23a1-43c8-9989-be2c10aa4f63 g.chr2:160898621A>C uc002ube.2 - 2 794 c.582T>G c.(580-582)cgT>cgG p.R194R PLA2R1_uc010zcp.2_Silent_p.R194R|PLA2R1_uc002ubf.3_Silent_p.R194R NM_007366 NP_031392 Q13018 PLA2R_HUMAN Homo sapiens phospholipase A2 receptor 1, 180kDa (PLA2R1), transcript variant 1, mRNA. 194 Fibronectin type-II. endocytosis extracellular space|integral to plasma membrane receptor activity|sugar binding PLA2R1/RBMS1(2) central_nervous_system(1)|endometrium(8)|kidney(2)|large_intestine(17)|lung(20)|ovary(1)|pancreas(1)|prostate(1)|skin(7)|stomach(1)|upper_aerodigestive_tract(1) 60 CCCGACCTTCACGGGTACATT 0.448000 72 25 0 0 0.003330 0 0 C16orf59 80178 broad.mit.edu 37 16 2512222 2512222 + Silent SNP C T T TCGA-D3-A2JA-06A-11D-A196-08 TCGA-D3-A2JA-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx f961ddcc-fb01-4ad1-974e-ccb2656a328e a6cc66c4-23a1-43c8-9989-be2c10aa4f63 g.chr16:2512222C>T uc002cqh.3 + 5 763 c.732C>T c.(730-732)ctC>ctT p.L244L C16orf59_uc002cqg.2_Silent_p.L77L|C16orf59_uc002cqi.3_Silent_p.L77L|C16orf59_uc010uwb.2_Silent_p.L77L NM_025108 NP_079384 Q7L2K0 CP059_HUMAN Homo sapiens chromosome 16 open reading frame 59 (C16orf59), mRNA. 244 lung(1)|skin(1)|urinary_tract(1) 3 Ovarian(90;0.17) CCCAGTTCCTCCAGAACATGC 0.627000 45 14 0 0 0.003163 0 0 LRP5 4041 broad.mit.edu 37 11 68153988 68153988 + Missense_Mutation SNP C G G TCGA-D3-A2JA-06A-11D-A196-08 TCGA-D3-A2JA-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx f961ddcc-fb01-4ad1-974e-ccb2656a328e a6cc66c4-23a1-43c8-9989-be2c10aa4f63 g.chr11:68153988C>G uc001ont.3 + 5 1295 c.1220C>G c.(1219-1221)gCg>gGg p.A407G LRP5_uc009ysg.3_5'UTR NM_002335 NP_002326 O75197 LRP5_HUMAN Homo sapiens low density lipoprotein receptor-related protein 5 (LRP5), mRNA. 407 Beta-propeller 2. Wnt receptor signaling pathway involved in dorsal/ventral axis specification|adipose tissue development|bone marrow development|bone morphogenesis|canonical Wnt receptor signaling pathway|cholesterol homeostasis|endocytosis|glucose catabolic process|negative regulation of osteoblast differentiation|negative regulation of protein serine/threonine kinase activity|positive regulation of fat cell differentiation|positive regulation of mesenchymal cell proliferation|positive regulation of mitosis|positive regulation of transcription from RNA polymerase II promoter|regulation of blood pressure|regulation of canonical Wnt receptor signaling pathway|retina morphogenesis in camera-type eye|retinal blood vessel morphogenesis endoplasmic reticulum|integral to membrane|plasma membrane|receptor complex protein binding|receptor activity autonomic_ganglia(1)|breast(3)|cervix(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|lung(24)|ovary(5)|pancreas(1)|prostate(1)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(1) 63 GGGTCTGGGGCGCAGACGCTG 0.647000 17 29 0 0 0.002096 0 0 C9orf96 169436 broad.mit.edu 37 9 136251455 136251455 + Missense_Mutation SNP T C C TCGA-D3-A2JA-06A-11D-A196-08 TCGA-D3-A2JA-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx f961ddcc-fb01-4ad1-974e-ccb2656a328e a6cc66c4-23a1-43c8-9989-be2c10aa4f63 g.chr9:136251455T>C uc004cdk.3 + 3 335 c.274T>C c.(274-276)Ttc>Ctc p.F92L C9orf96_uc004cdl.3_Non-coding_Transcript NM_153710 NP_714921 Q8NE28 SGK71_HUMAN Homo sapiens chromosome 9 open reading frame 96 (C9orf96), mRNA. 92 Protein kinase. ATP binding|protein kinase activity autonomic_ganglia(1)|central_nervous_system(3)|endometrium(1)|kidney(1)|large_intestine(5)|lung(10)|ovary(2)|stomach(2) 25 OV - Ovarian serous cystadenocarcinoma(145;1.06e-07)|Epithelial(140;1.28e-06)|all cancers(34;1.46e-05) CCAGGAGCTGTTCATCACGTG 0.617000 19 28 0 0 0.005443 0 0 ANKRD36B 57730 broad.mit.edu 37 2 98171534 98171534 + Missense_Mutation SNP T C C TCGA-D3-A2JA-06A-11D-A196-08 TCGA-D3-A2JA-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx f961ddcc-fb01-4ad1-974e-ccb2656a328e a6cc66c4-23a1-43c8-9989-be2c10aa4f63 g.chr2:98171534T>C uc010yvc.1 - 13 1440 c.1160A>G c.(1159-1161)cAa>cGa p.Q387R ANKRD36B_uc010yve.1_Non-coding_Transcript|ANKRD36B_uc010fif.2_Non-coding_Transcript NM_025190 NP_079466 Q8N2N9 AN36B_HUMAN Homo sapiens ankyrin repeat domain 36B (ANKRD36B), mRNA. 387 TGTCCCACATTGTAGTCCATC 0.363000 28 19 0 0 0.002299 0 0 ADAMDEC1 27299 broad.mit.edu 37 8 24250842 24250842 + Missense_Mutation SNP A G G TCGA-D3-A2JA-06A-11D-A196-08 TCGA-D3-A2JA-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx f961ddcc-fb01-4ad1-974e-ccb2656a328e a6cc66c4-23a1-43c8-9989-be2c10aa4f63 g.chr8:24250842A>G uc003xdz.2 + 2 495 c.275A>G c.(274-276)cAa>cGa p.Q92R ADAMDEC1_uc010lub.2_Missense_Mutation_p.Q13R|ADAMDEC1_uc011lab.1_Missense_Mutation_p.Q13R NM_014479 NP_001138744 O15204 ADEC1_HUMAN Homo sapiens ADAM-like, decysin 1 (ADAMDEC1), transcript variant 1, mRNA. 92 integrin-mediated signaling pathway|negative regulation of cell adhesion|proteolysis extracellular region|integral to membrane integrin binding|metalloendopeptidase activity|zinc ion binding NS(1)|breast(1)|large_intestine(4)|skin(2)|stomach(1) 9 Prostate(55;0.0181) Colorectal(74;0.016)|COAD - Colon adenocarcinoma(73;0.0646)|BRCA - Breast invasive adenocarcinoma(99;0.168) CTCTCCCTACAAAAAACCAAG 0.338000 32 8 0 0 0.004482 0 0 CD2AP 23607 broad.mit.edu 37 6 47576933 47576933 + Silent SNP C T T TCGA-D3-A2JA-06A-11D-A196-08 TCGA-D3-A2JA-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx f961ddcc-fb01-4ad1-974e-ccb2656a328e a6cc66c4-23a1-43c8-9989-be2c10aa4f63 g.chr6:47576933C>T uc003oyw.3 + 15 2163 c.1707C>T c.(1705-1707)atC>atT p.I569I NM_012120 NP_036252 Q9Y5K6 CD2AP_HUMAN Homo sapiens CD2-associated protein (CD2AP), mRNA. 569 cell division|mitosis|protein complex assembly|signal transduction|substrate-dependent cell migration, cell extension cytoplasm|filamentous actin|nucleolus|plasma membrane|ruffle SH3 domain binding|structural constituent of cytoskeleton kidney(1)|large_intestine(9)|lung(5)|ovary(1)|prostate(1)|skin(2)|urinary_tract(1) 20 Lung(136;0.105)|LUSC - Lung squamous cell carcinoma(51;0.138) CATTAGAAATCAAAGCTAAAG 0.363000 28 25 0 0 0.002780 0 0 PLEKHH1 57475 broad.mit.edu 37 14 68029190 68029191 + Missense_Mutation DNP CC TT TT TCGA-D3-A2JA-06A-11D-A196-08 TCGA-D3-A2JA-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx f961ddcc-fb01-4ad1-974e-ccb2656a328e a6cc66c4-23a1-43c8-9989-be2c10aa4f63 g.chr14:68029190_68029191CC>TT uc001xjl.1 + 6 984_985 c.842_843CC>TT c.(841-843)tcc>tTT p.S281F NM_020715 NP_065766 Q9ULM0 PKHH1_HUMAN Homo sapiens pleckstrin homology domain containing, family H (with MyTH4 domain) member 1 (PLEKHH1), mRNA. 281 cytoskeleton binding endometrium(2)|kidney(4)|lung(12)|urinary_tract(1) 19 all cancers(60;0.000771)|OV - Ovarian serous cystadenocarcinoma(108;0.00502)|BRCA - Breast invasive adenocarcinoma(234;0.011) AGTTCAGCTTCCTGGGGTGAGG 0.564000 18 6 0 0 0.004672 0 0 GLT25D2 23127 broad.mit.edu 37 1 183933102 183933102 + Silent SNP G A A TCGA-D3-A2JA-06A-11D-A196-08 TCGA-D3-A2JA-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx f961ddcc-fb01-4ad1-974e-ccb2656a328e a6cc66c4-23a1-43c8-9989-be2c10aa4f63 g.chr1:183933102G>A uc001gqr.3 - 5 1257 c.885C>T c.(883-885)ccC>ccT p.P295P GLT25D2_uc010poj.1_Silent_p.P295P|GLT25D2_uc001gqq.3_Silent_p.P32P|GLT25D2_uc001gqs.3_Silent_p.P175P NM_015101 NP_055916 Q8IYK4 GT252_HUMAN Homo sapiens glycosyltransferase 25 domain containing 2 (GLT25D2), mRNA. 295 lipopolysaccharide biosynthetic process endoplasmic reticulum lumen procollagen galactosyltransferase activity p.P295L(1) breast(3)|endometrium(2)|kidney(1)|large_intestine(8)|lung(13)|ovary(1)|pancreas(1)|skin(2) 31 GGGGCTTCAGGGGGATGGGCA 0.527000 26 35 0 0 0.004289 0 0 ROS1 6098 broad.mit.edu 37 6 117678018 117678018 + Silent SNP G A A TCGA-D3-A2JA-06A-11D-A196-08 TCGA-D3-A2JA-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx f961ddcc-fb01-4ad1-974e-ccb2656a328e a6cc66c4-23a1-43c8-9989-be2c10aa4f63 g.chr6:117678018G>A uc003pxp.1 - 24 4114 c.3915C>T c.(3913-3915)atC>atT p.I1305I ROS1_uc011ebi.1_Non-coding_Transcript|ROS1_uc003pxq.1_Intron NM_002944 NP_002935 P08922 ROS_HUMAN Homo sapiens c-ros oncogene 1 , receptor tyrosine kinase (ROS1), mRNA. 1305 transmembrane receptor protein tyrosine kinase signaling pathway membrane fraction|sodium:potassium-exchanging ATPase complex ATP binding|transmembrane receptor protein tyrosine kinase activity p.I1305I(3) TPM3_ENST00000368530/ROS1(4)|LRIG3/ROS1(2)|CD74_ENST00000009530/ROS1(32)|SLC34A2/ROS1(14)|EZR/ROS1(4)|GOPC/ROS1(14)|SDC4/ROS1(7) NS(2)|breast(7)|central_nervous_system(5)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(12)|large_intestine(28)|lung(56)|ovary(8)|prostate(5)|skin(19)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(3) 162 all_cancers(87;0.00846)|all_epithelial(87;0.0242) GBM - Glioblastoma multiforme(226;0.0387)|OV - Ovarian serous cystadenocarcinoma(136;0.0954)|all cancers(137;0.137) AGGTGTGACTGATAATACTGT 0.383000 T """GOPC, SDC4, SLC34A2, EZR, LRIG3""" """glioblastoma, NSCLC""" 23 18 0 0 0.002299 0 0 ROR1 4919 broad.mit.edu 37 1 64605887 64605887 + Missense_Mutation SNP G A A TCGA-D3-A2JA-06A-11D-A196-08 TCGA-D3-A2JA-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx f961ddcc-fb01-4ad1-974e-ccb2656a328e a6cc66c4-23a1-43c8-9989-be2c10aa4f63 g.chr1:64605887G>A uc001dbj.2 + 5 1105 c.706G>A c.(706-708)Gat>Aat p.D236N ROR1_uc001dbi.4_Missense_Mutation_p.D236N|AK096291_uc001dbl.3_Intron NM_005012 NP_005003 Q01973 ROR1_HUMAN Homo sapiens receptor tyrosine kinase-like orphan receptor 1 (ROR1), transcript variant 1, mRNA. 236 FZ. transmembrane receptor protein tyrosine kinase signaling pathway cytoplasm|integral to plasma membrane ATP binding|Wnt-protein binding|transmembrane receptor protein tyrosine kinase activity breast(7)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(14)|lung(10)|ovary(6)|prostate(1)|skin(5)|stomach(2)|upper_aerodigestive_tract(1) 51 CCCGTACTGCGATGAAACTTC 0.478000 44 53 0 0 0.003610 0 0 PLCH2 9651 broad.mit.edu 37 1 2430220 2430220 + Missense_Mutation SNP T C C TCGA-D3-A2JA-06A-11D-A196-08 TCGA-D3-A2JA-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx f961ddcc-fb01-4ad1-974e-ccb2656a328e a6cc66c4-23a1-43c8-9989-be2c10aa4f63 g.chr1:2430220T>C uc001aji.1 + 17 2658 c.2384T>C c.(2383-2385)cTc>cCc p.L795P PLCH2_uc010nyz.2_Missense_Mutation_p.L584P|PLCH2_uc009vle.1_Missense_Mutation_p.L548P|PLCH2_uc001ajj.1_Missense_Mutation_p.L584P|PLCH2_uc001ajk.1_Missense_Mutation_p.L584P|PLCH2_uc001ajl.1_5'UTR NM_014638 NP_055453 O75038 PLCH2_HUMAN Homo sapiens phospholipase C, eta 2 (PLCH2), mRNA. 796 C2. intracellular signal transduction|lipid catabolic process cytoplasm|plasma membrane calcium ion binding|phosphatidylinositol phospholipase C activity|signal transducer activity central_nervous_system(4)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(8)|ovary(1)|prostate(3)|skin(1) 20 all_cancers(77;0.000161)|all_epithelial(69;5.98e-05)|all_lung(157;0.016)|Lung NSC(156;0.0376)|Ovarian(185;0.0634) all_epithelial(116;7.32e-16)|all_lung(118;1.15e-06)|Lung NSC(185;6.26e-05)|Renal(390;0.00571)|Breast(487;0.00832)|Hepatocellular(190;0.0268)|Myeloproliferative disorder(586;0.028)|Ovarian(437;0.127)|Medulloblastoma(700;0.151)|Lung SC(97;0.217) Epithelial(90;1.44e-37)|OV - Ovarian serous cystadenocarcinoma(86;6.78e-23)|GBM - Glioblastoma multiforme(42;2.8e-08)|Colorectal(212;4.19e-05)|COAD - Colon adenocarcinoma(227;0.000195)|Kidney(185;0.00034)|BRCA - Breast invasive adenocarcinoma(365;0.00443)|KIRC - Kidney renal clear cell carcinoma(229;0.00548)|STAD - Stomach adenocarcinoma(132;0.00644)|Lung(427;0.2) ATCATTGGGCTCCCTGTGGAC 0.662000 14 5 0 0 0.001984 0 0 CNTNAP5 129684 broad.mit.edu 37 2 125204364 125204364 + Silent SNP C T T TCGA-D3-A2JA-06A-11D-A196-08 TCGA-D3-A2JA-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx f961ddcc-fb01-4ad1-974e-ccb2656a328e a6cc66c4-23a1-43c8-9989-be2c10aa4f63 g.chr2:125204364C>T uc010flu.3 + 5 1132 c.768C>T c.(766-768)ccC>ccT p.P256P CNTNAP5_uc002tno.3_Silent_p.P256P NM_130773 NP_570129 Q8WYK1 CNTP5_HUMAN Homo sapiens contactin associated protein-like 5 (CNTNAP5), mRNA. 256 Laminin G-like 1. cell adhesion|signal transduction integral to membrane receptor binding NS(1)|breast(4)|central_nervous_system(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(3)|kidney(4)|large_intestine(24)|lung(100)|ovary(10)|prostate(12)|skin(4)|upper_aerodigestive_tract(3) 176 BRCA - Breast invasive adenocarcinoma(221;0.248) GCAGCTTGCCCTCTGCCACCC 0.597000 76 45 0 0 0.003610 0 0 PDGFRB 5159 broad.mit.edu 37 5 149511644 149511644 + Silent SNP G A A TCGA-D3-A2JA-06A-11D-A196-08 TCGA-D3-A2JA-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx f961ddcc-fb01-4ad1-974e-ccb2656a328e a6cc66c4-23a1-43c8-9989-be2c10aa4f63 g.chr5:149511644G>A uc003lro.3 - 7 1610 c.1141C>T c.(1141-1143)Ctg>Ttg p.L381L PDGFRB_uc010jhd.3_Silent_p.L220L NM_002609 NP_002600 P09619 PGFRB_HUMAN Homo sapiens platelet-derived growth factor receptor, beta polypeptide (PDGFRB), mRNA. 381 Ig-like C2-type 4. 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) ACCAGTGTCAGCTCTGACACA 0.567000 T """ETV6, TRIP11, HIP1, RAB5EP, H4, NIN, HCMOGT-1, PDE4DIP""" """MPD, AML, CMML, CML""" 42 17 0 0 0.004990 0 0 STXBP5L 9515 broad.mit.edu 37 3 120977927 120977927 + Nonsense_Mutation SNP C T T TCGA-D3-A2JA-06A-11D-A196-08 TCGA-D3-A2JA-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx f961ddcc-fb01-4ad1-974e-ccb2656a328e a6cc66c4-23a1-43c8-9989-be2c10aa4f63 g.chr3:120977927C>T uc003eec.4 + 17 2010 c.1870C>T c.(1870-1872)Caa>Taa p.Q624* STXBP5L_uc011bji.2_Nonsense_Mutation_p.Q624* NM_014980 NP_055795 Q9Y2K9 STB5L_HUMAN Homo sapiens syntaxin binding protein 5-like (STXBP5L), mRNA. 624 exocytosis|protein transport cytoplasm|integral to membrane|plasma membrane NS(1)|breast(3)|endometrium(3)|kidney(3)|large_intestine(12)|lung(28)|ovary(7)|prostate(3)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(1) 68 GBM - Glioblastoma multiforme(114;0.0694) TCCAGGATATCAAGCAGAACT 0.373000 18 30 0 0 0.001786 0 0 MOV10L1 54456 broad.mit.edu 37 22 50555768 50555768 + Missense_Mutation SNP C T T TCGA-D3-A2JA-06A-11D-A196-08 TCGA-D3-A2JA-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx f961ddcc-fb01-4ad1-974e-ccb2656a328e a6cc66c4-23a1-43c8-9989-be2c10aa4f63 g.chr22:50555768C>T uc003bjj.3 + 8 1525 c.1442C>T c.(1441-1443)aCc>aTc p.T481I MOV10L1_uc003bjk.4_Missense_Mutation_p.T481I|MOV10L1_uc011arp.2_Missense_Mutation_p.T461I|MOV10L1_uc011arq.1_Missense_Mutation_p.T242I|MOV10L1_uc010hao.1_Non-coding_Transcript NM_018995 NP_061868 Q9BXT6 M10L1_HUMAN Homo sapiens Mov10l1, Moloney leukemia virus 10-like 1, homolog (mouse) (MOV10L1), transcript variant 1, mRNA. 481 germ cell development|multicellular organismal development|spermatogenesis ATP binding|ATP-dependent RNA helicase activity|RNA binding|magnesium ion binding breast(2)|endometrium(2)|kidney(5)|large_intestine(18)|lung(20)|ovary(3)|prostate(1)|skin(9)|stomach(4)|urinary_tract(3) 67 all_cancers(38;3.31e-11)|all_epithelial(38;5.69e-10)|all_lung(38;3.73e-05)|Breast(42;0.000525)|Lung NSC(38;0.000954)|Ovarian(80;0.0367)|Lung SC(80;0.114) LUAD - Lung adenocarcinoma(64;0.0215)|BRCA - Breast invasive adenocarcinoma(115;0.24) GTTGTTGTGACCGCACAGAAA 0.473000 32 6 0 0 0.001984 0 0 DNM3 26052 broad.mit.edu 37 1 172017777 172017777 + Missense_Mutation SNP G A A TCGA-D3-A2JA-06A-11D-A196-08 TCGA-D3-A2JA-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx f961ddcc-fb01-4ad1-974e-ccb2656a328e a6cc66c4-23a1-43c8-9989-be2c10aa4f63 g.chr1:172017777G>A uc001gie.3 + 9 1398 c.1222G>A c.(1222-1224)Gca>Aca p.A408T DNM3_uc001gid.4_Missense_Mutation_p.A408T|DNM3_uc009wwb.2_Missense_Mutation_p.A408T|DNM3_uc001gif.3_Missense_Mutation_p.A408T NM_015569 NP_056384 Q9UQ16 DYN3_HUMAN Homo sapiens dynamin 3 (DNM3), transcript variant 1, mRNA. 408 endocytosis|filopodium assembly|synapse assembly dendritic spine|microtubule|perinuclear region of cytoplasm|postsynaptic density GTP binding|GTPase activity|protein binding NS(1)|breast(3)|endometrium(1)|kidney(1)|large_intestine(9)|lung(16)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2) 37 TCCAGACATGGCATTTGAAGC 0.353000 49 9 0 0 0.006214 0 0 SGCZ 137868 broad.mit.edu 37 8 14095160 14095160 + Missense_Mutation SNP C T T TCGA-D3-A2JA-06A-11D-A196-08 TCGA-D3-A2JA-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx f961ddcc-fb01-4ad1-974e-ccb2656a328e a6cc66c4-23a1-43c8-9989-be2c10aa4f63 g.chr8:14095160C>T uc003wwq.3 - 3 1025 c.365G>A c.(364-366)aGg>aAg p.R122K SGCZ_uc010lss.3_Missense_Mutation_p.R75K NM_139167 NP_631906 Q96LD1 SGCZ_HUMAN Homo sapiens sarcoglycan, zeta (SGCZ), mRNA. 109 cytoskeleton organization cytoplasm|cytoskeleton|integral to membrane|sarcolemma NS(1)|central_nervous_system(2)|endometrium(1)|kidney(3)|large_intestine(14)|lung(15)|ovary(2)|prostate(3)|skin(5)|upper_aerodigestive_tract(1) 47 all cancers(2;0.000643)|Colorectal(111;0.00674)|COAD - Colon adenocarcinoma(73;0.0193)|GBM - Glioblastoma multiforme(2;0.026) TGTGACATTCCTGTCAGACTG 0.383000 156 70 0 0 0.003610 0 0 NF1 4763 broad.mit.edu 37 17 29557909 29557909 + Nonsense_Mutation SNP C T T TCGA-D3-A2JA-06A-11D-A196-08 TCGA-D3-A2JA-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx f961ddcc-fb01-4ad1-974e-ccb2656a328e a6cc66c4-23a1-43c8-9989-be2c10aa4f63 g.chr17:29557909C>T uc002hgg.3 + 23 3546 c.3163C>T c.(3163-3165)Caa>Taa p.Q1055* NF1_uc002hgh.3_Nonsense_Mutation_p.Q1055*|NF1_uc010csn.2_Nonsense_Mutation_p.Q915*|NF1_uc002hgi.1_Nonsense_Mutation_p.Q88* NM_001042492 NP_001035957 P21359 NF1_HUMAN Homo sapiens neurofibromin 1 (NF1), transcript variant 1, mRNA. 1055 MAPKKK cascade|Ras protein signal transduction|actin cytoskeleton organization|adrenal gland development|artery morphogenesis|camera-type eye morphogenesis|cerebral cortex development|collagen fibril organization|forebrain astrocyte development|forebrain morphogenesis|heart development|liver development|metanephros development|myelination in peripheral nervous system|negative regulation of MAP kinase activity|negative regulation of MAPKKK cascade|negative regulation of cell migration|negative regulation of endothelial cell proliferation|negative regulation of neuroblast proliferation|negative regulation of oligodendrocyte differentiation|negative regulation of transcription factor import into nucleus|osteoblast differentiation|phosphatidylinositol 3-kinase cascade|pigmentation|positive regulation of adenylate cyclase activity|positive regulation of neuron apoptosis|regulation of blood vessel endothelial cell migration|regulation of bone resorption|response to hypoxia|smooth muscle tissue development|spinal cord development|sympathetic nervous system development|visual learning|wound healing axon|cytoplasm|dendrite|intrinsic to internal side of plasma membrane|nucleus Ras GTPase activator activity|protein binding p.0?(8)|p.?(4) NF1/ACCN1(2) autonomic_ganglia(12)|breast(11)|central_nervous_system(72)|cervix(6)|endometrium(12)|haematopoietic_and_lymphoid_tissue(59)|kidney(9)|large_intestine(39)|liver(1)|lung(80)|ovary(20)|pancreas(2)|prostate(2)|skin(8)|soft_tissue(249)|stomach(2)|thyroid(1)|upper_aerodigestive_tract(5)|urinary_tract(9) 599 all_cancers(10;1.29e-12)|all_epithelial(10;0.00347)|all_hematologic(16;0.00556)|Acute lymphoblastic leukemia(14;0.00593)|Breast(31;0.014)|Myeloproliferative disorder(56;0.0255)|all_lung(9;0.0321)|Lung NSC(157;0.0659) UCEC - Uterine corpus endometrioid carcinoma (4;4.38e-05)|all cancers(4;1.64e-26)|Epithelial(4;9.15e-23)|OV - Ovarian serous cystadenocarcinoma(4;3.58e-21)|GBM - Glioblastoma multiforme(4;0.00146) AACATCAAACCAAGCAGCAGA 0.353000 """D, Mis, N, F, S, O""" """neurofibroma, glioma""" """neurofibroma, glioma""" Neurofibromatosis, type 1 TCGA GBM(6;<1E-08)|TSP Lung(7;0.0071)|TCGA Ovarian(3;0.0088) 8 3 0 0 0.004672 0 0 RBP3 5949 broad.mit.edu 37 10 48389645 48389645 + Silent SNP C T T TCGA-D3-A2JA-06A-11D-A196-08 TCGA-D3-A2JA-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx f961ddcc-fb01-4ad1-974e-ccb2656a328e a6cc66c4-23a1-43c8-9989-be2c10aa4f63 g.chr10:48389645C>T uc001jez.3 - 0 1347 c.1233G>A c.(1231-1233)gtG>gtA p.V411V NM_002900 NP_002891 P10745 RET3_HUMAN Homo sapiens retinol binding protein 3, interstitial (RBP3), mRNA. 411 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) ACTCTGGGGCCACCCCTGGTG 0.652000 44 7 0 0 0.001984 0 0 NHLH1 4807 broad.mit.edu 37 1 160340656 160340656 + Silent SNP C T T TCGA-D3-A2JA-06A-11D-A196-08 TCGA-D3-A2JA-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx f961ddcc-fb01-4ad1-974e-ccb2656a328e a6cc66c4-23a1-43c8-9989-be2c10aa4f63 g.chr1:160340656C>T uc021pbs.1 + 0 135 c.135C>T c.(133-135)gcC>gcT p.A45A NHLH1_uc001fwa.2_Silent_p.A45A NM_005598 NP_005589 Q02575 HEN1_HUMAN Homo sapiens nescient helix loop helix 1 (NHLH1), mRNA. 45 cell differentiation|central nervous system development|regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding breast(2)|endometrium(1)|large_intestine(1)|lung(2)|ovary(1) 7 all_cancers(52;7.11e-19)|all_hematologic(112;0.093) BRCA - Breast invasive adenocarcinoma(70;0.111) GGGGCCAGGCCCGAGGCCCAG 0.751000 20 7 0 0 0.003080 0 0 TCEB3B 51224 broad.mit.edu 37 18 44560437 44560437 + Missense_Mutation SNP C T T TCGA-D3-A2JA-06A-11D-A196-08 TCGA-D3-A2JA-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx f961ddcc-fb01-4ad1-974e-ccb2656a328e a6cc66c4-23a1-43c8-9989-be2c10aa4f63 g.chr18:44560437C>T uc002lcr.1 - 0 1552 c.1199G>A c.(1198-1200)gGa>gAa p.G400E 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. 400 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 GGCAGATTTTCCAGTCTTTTT 0.478000 73 16 0 0 0.004007 0 0 SPATA16 83893 broad.mit.edu 37 3 172835539 172835539 + Splice_Site SNP C T T TCGA-D3-A2JA-06A-11D-A196-08 TCGA-D3-A2JA-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx f961ddcc-fb01-4ad1-974e-ccb2656a328e a6cc66c4-23a1-43c8-9989-be2c10aa4f63 g.chr3:172835539C>T uc003fin.4 - 2 167 c.-17_splice c.e2-1 NM_031955 NP_114161 Q9BXB7 SPT16_HUMAN Homo sapiens spermatogenesis associated 16 (SPATA16), mRNA. cell differentiation|multicellular organismal development|spermatogenesis Golgi apparatus binding breast(2)|cervix(1)|large_intestine(8)|lung(20)|ovary(2)|prostate(1)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(1) 43 Ovarian(172;0.00319)|Breast(254;0.197) LUSC - Lung squamous cell carcinoma(14;1.48e-14)|Lung(28;6.63e-14) GCCCAAAACTCCTGCAGGGGG 0.373000 63 12 0 0 0.000978 0 0 COMP 1311 broad.mit.edu 37 19 18897365 18897365 + Missense_Mutation SNP G A A TCGA-D3-A2JA-06A-11D-A196-08 TCGA-D3-A2JA-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx f961ddcc-fb01-4ad1-974e-ccb2656a328e a6cc66c4-23a1-43c8-9989-be2c10aa4f63 g.chr19:18897365G>A uc002nke.3 - 10 1267 c.1231C>T c.(1231-1233)Ccc>Tcc p.P411S COMP_uc002nkd.3_Missense_Mutation_p.P378S|COMP_uc010xqj.2_Missense_Mutation_p.P358S NM_000095 NP_000086 P49747 COMP_HUMAN Homo sapiens cartilage oligomeric matrix protein (COMP), mRNA. 411 anti-apoptosis|apoptosis|cell adhesion|limb development extracellular space|proteinaceous extracellular matrix calcium ion binding|collagen binding|extracellular matrix structural constituent|heparan sulfate proteoglycan binding|heparin binding breast(6)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(12)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2) 32 CTCTTCTGGGGACAGTTGTCA 0.597000 44 23 0 0 0.003954 0 0 CNTNAP4 85445 broad.mit.edu 37 16 76572111 76572111 + Missense_Mutation SNP C T T TCGA-D3-A2JA-06A-11D-A196-08 TCGA-D3-A2JA-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx f961ddcc-fb01-4ad1-974e-ccb2656a328e a6cc66c4-23a1-43c8-9989-be2c10aa4f63 g.chr16:76572111C>T uc002fex.1 + 17 3242 c.3103C>T c.(3103-3105)Cat>Tat p.H1035Y CNTNAP4_uc002feu.1_Missense_Mutation_p.H1031Y|CNTNAP4_uc002fev.1_Missense_Mutation_p.H896Y|CNTNAP4_uc010chb.1_Missense_Mutation_p.H959Y NM_033401 NP_207837 Q9C0A0 CNTP4_HUMAN Homo sapiens contactin associated protein-like 4 (CNTNAP4), transcript variant 1, mRNA. 1032 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 TGCTTCATTTCATGGTGATAT 0.368000 46 12 0 0 0.000978 0 0 STEAP1B 256227 broad.mit.edu 37 7 22532979 22532979 + Silent SNP G C C TCGA-D3-A2JA-06A-11D-A196-08 TCGA-D3-A2JA-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx f961ddcc-fb01-4ad1-974e-ccb2656a328e a6cc66c4-23a1-43c8-9989-be2c10aa4f63 g.chr7:22532979G>C uc010kum.2 - 2 761 c.561C>G c.(559-561)tcC>tcG p.S187S STEAP1B_uc003svh.3_Silent_p.S168S NM_001164460 NP_001157932 Q6NZ63 STEAL_HUMAN Homo sapiens STEAP family member 1B (STEAP1B), transcript variant 1, mRNA. 168 integral to membrane electron carrier activity|flavin adenine dinucleotide binding|iron ion binding|oxidoreductase activity p.R186*(1) endometrium(1)|kidney(1)|lung(2) 4 TGTATCTGTAGGATCGCCTCA 0.368000 29 9 0 0 0.006214 0 0 OBSL1 23363 broad.mit.edu 37 2 220432111 220432111 + Missense_Mutation SNP G A A TCGA-D3-A2JA-06A-11D-A196-08 TCGA-D3-A2JA-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx f961ddcc-fb01-4ad1-974e-ccb2656a328e a6cc66c4-23a1-43c8-9989-be2c10aa4f63 g.chr2:220432111G>A uc010fwk.3 - 3 2035 c.1721C>T c.(1720-1722)gCc>gTc p.A574V OBSL1_uc010fwl.2_Missense_Mutation_p.A574V|OBSL1_uc002vmi.3_Missense_Mutation_p.A574V NM_015311 NP_056126 O75147 OBSL1_HUMAN Homo sapiens obscurin-like 1 (OBSL1), transcript variant 1, mRNA. 574 Fibronectin type-III. cardiac myofibril assembly M band|Z disc|intercalated disc|perinuclear region of cytoplasm cytoskeletal adaptor activity Renal(207;0.0376) Epithelial(149;2.02e-07)|all cancers(144;1.68e-05)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00834) CACCTCCACGGCTCCGGCTTT 0.637000 13 8 0 0 0.004482 0 0 KRT84 3890 broad.mit.edu 37 12 52779191 52779191 + Missense_Mutation SNP G A A TCGA-D3-A2JA-06A-11D-A196-08 TCGA-D3-A2JA-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx f961ddcc-fb01-4ad1-974e-ccb2656a328e a6cc66c4-23a1-43c8-9989-be2c10aa4f63 g.chr12:52779191G>A uc001sah.1 - 0 227 c.179C>T c.(178-180)tCg>tTg p.S60L NM_033045 NP_149034 Q9NSB2 KRT84_HUMAN Homo sapiens keratin 84 (KRT84), mRNA. 60 Head. keratin filament structural constituent of epidermis breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|liver(1)|lung(10)|skin(3) 27 all_hematologic(5;0.12) BRCA - Breast invasive adenocarcinoma(357;0.189) GGGTGAGTACGATCCAAAGGT 0.582000 55 11 0 0 0.000978 0 0 SLC38A1 81539 broad.mit.edu 37 12 46622995 46622995 + Missense_Mutation SNP C T T TCGA-D3-A2JA-06A-11D-A196-08 TCGA-D3-A2JA-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx f961ddcc-fb01-4ad1-974e-ccb2656a328e a6cc66c4-23a1-43c8-9989-be2c10aa4f63 g.chr12:46622995C>T uc009zkj.1 - 4 940 c.255G>A c.(253-255)atG>atA p.M85I SLC38A1_uc001rpb.3_Missense_Mutation_p.M85I|SLC38A1_uc001rpc.3_Missense_Mutation_p.M85I|SLC38A1_uc001rpd.3_Missense_Mutation_p.M85I|SLC38A1_uc001rpe.3_Missense_Mutation_p.M85I|SLC38A1_uc010slh.2_Missense_Mutation_p.M58I|SLC38A1_uc001rpa.3_Missense_Mutation_p.M85I NM_030674 NP_109599 Q9H2H9 S38A1_HUMAN Homo sapiens solute carrier family 38, member 1 (SLC38A1), transcript variant 1, mRNA. 85 cellular nitrogen compound metabolic process|neurotransmitter uptake integral to membrane|plasma membrane sodium:amino acid symporter activity NS(2)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(7)|ovary(2)|prostate(1)|skin(2) 23 Lung SC(27;0.137)|Renal(347;0.236) all cancers(1;0.00805)|OV - Ovarian serous cystadenocarcinoma(5;0.0106)|Epithelial(2;0.0344) TCCCACTGCCCATAATGGCGT 0.423000 22 10 0 0 0.000978 0 0 LRP2 4036 broad.mit.edu 37 2 170103467 170103467 + Missense_Mutation SNP G A A TCGA-D3-A2JA-06A-11D-A196-08 TCGA-D3-A2JA-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx f961ddcc-fb01-4ad1-974e-ccb2656a328e a6cc66c4-23a1-43c8-9989-be2c10aa4f63 g.chr2:170103467G>A uc002ues.3 - 20 3151 c.2938C>T c.(2938-2940)Cct>Tct p.P980S LRP2_uc010zdf.1_Missense_Mutation_p.P843S NM_004525 NP_004516 P98164 LRP2_HUMAN Homo sapiens low density lipoprotein receptor-related protein 2 (LRP2), mRNA. 980 EGF-like 4. hormone biosynthetic process|protein glycosylation|receptor-mediated endocytosis|vitamin D metabolic process coated pit|integral to membrane|lysosome SH3 domain binding|calcium ion binding|receptor activity biliary_tract(1)|breast(16)|central_nervous_system(6)|cervix(2)|endometrium(24)|haematopoietic_and_lymphoid_tissue(2)|kidney(17)|large_intestine(70)|liver(1)|lung(117)|ovary(19)|pancreas(1)|prostate(2)|skin(17)|upper_aerodigestive_tract(7)|urinary_tract(13) 315 STAD - Stomach adenocarcinoma(1183;0.000766)|COAD - Colon adenocarcinoma(177;0.0101) Gentamicin(DB00798)|Insulin Glargine recombinant(DB00047)|Insulin Lyspro recombinant(DB00046)|Insulin recombinant(DB00030)|Insulin, porcine(DB00071)|Urokinase(DB00013) TCACCGTTAGGATGCGTGGGT 0.512000 49 15 0 0 0.004007 0 0 UNC13C 440279 broad.mit.edu 37 15 54307569 54307569 + Silent SNP G A A TCGA-D3-A2JA-06A-11D-A196-08 TCGA-D3-A2JA-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx f961ddcc-fb01-4ad1-974e-ccb2656a328e a6cc66c4-23a1-43c8-9989-be2c10aa4f63 g.chr15:54307569G>A uc021smr.1 + 0 2469 c.2469G>A c.(2467-2469)gaG>gaA p.E823E UNC13C_uc021sms.1_Silent_p.E823E NM_001080534 NP_001074003 Q8NB66 UN13C_HUMAN Homo sapiens unc-13 homolog C (C. elegans) (UNC13C), mRNA. 823 exocytosis|intracellular signal transduction cell junction|cytoplasm|presynaptic membrane metal ion binding breast(3)|endometrium(5)|kidney(5)|large_intestine(20)|lung(70)|ovary(6)|pancreas(2)|prostate(2)|upper_aerodigestive_tract(4)|urinary_tract(4) 121 GBM - Glioblastoma multiforme(80;0.0789)|all cancers(107;0.124) GTGGGTATGAGGACAGTGGCT 0.448000 44 4 0 0 0.000602 0 0 GALP 85569 broad.mit.edu 37 19 56691971 56691971 + Missense_Mutation SNP C T T TCGA-D3-A2JA-06A-11D-A196-08 TCGA-D3-A2JA-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx f961ddcc-fb01-4ad1-974e-ccb2656a328e a6cc66c4-23a1-43c8-9989-be2c10aa4f63 g.chr19:56691971C>T uc002qmo.1 + 2 186 c.104C>T c.(103-105)aCc>aTc p.T35I GALP_uc010eti.2_Intron NM_033106 NP_149097 Q9UBC7 GALP_HUMAN Homo sapiens galanin-like peptide (GALP), transcript variant 1, mRNA. 35 neuropeptide signaling pathway extracellular region hormone activity lung(4) 4 Colorectal(82;0.000147)|Ovarian(87;0.243) GBM - Glioblastoma multiforme(193;0.0507) GGAGGCTGGACCCTCAATAGT 0.607000 53 27 0 0 0.008361 0 0 CT62 196993 broad.mit.edu 37 15 71403594 71403594 + Missense_Mutation SNP C G G TCGA-D3-A2JA-06A-11D-A196-08 TCGA-D3-A2JA-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx f961ddcc-fb01-4ad1-974e-ccb2656a328e a6cc66c4-23a1-43c8-9989-be2c10aa4f63 g.chr15:71403594C>G uc002ata.2 - 3 820 c.307G>C c.(307-309)Ggg>Cgg p.G103R NM_001102658 NP_001096128 P0C5K7 CT62_HUMAN Homo sapiens cancer/testis antigen 62 (CT62), mRNA. 103 NS(1)|central_nervous_system(1)|kidney(1)|large_intestine(1)|lung(2) 6 TGAAGACTCCCTGACACTTCA 0.488000 40 11 0 0 0.001368 0 0 POTED 317754 broad.mit.edu 37 GL000213.1 138929 138929 + Nonsense_Mutation SNP C T T TCGA-D3-A2JA-06A-11D-A196-08 TCGA-D3-A2JA-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx f961ddcc-fb01-4ad1-974e-ccb2656a328e a6cc66c4-23a1-43c8-9989-be2c10aa4f63 g.chrGL000213.1:138929C>T uc011mfl.1 - 0 407 c.359G>A c.(358-360)tGg>tAg p.W120* NM_174981 NP_778146 Q86YR6 POTED_HUMAN Homo sapiens POTE ankyrin domain family, member D (POTED), mRNA. 120 plasma membrane central_nervous_system(1)|large_intestine(10)|liver(2)|lung(8)|ovary(4)|pancreas(1)|prostate(1)|skin(5)|stomach(1) 33 GTAGTCTCCCCAAGCGCCCAC 0.587000 15 15 0 0 0.002450 0 0 FAM83B 222584 broad.mit.edu 37 6 54806762 54806762 + Missense_Mutation SNP G A A TCGA-D3-A2JA-06A-11D-A196-08 TCGA-D3-A2JA-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx f961ddcc-fb01-4ad1-974e-ccb2656a328e a6cc66c4-23a1-43c8-9989-be2c10aa4f63 g.chr6:54806762G>A uc003pck.3 + 4 3109 c.2993G>A c.(2992-2994)gGa>gAa p.G998E NM_001010872 NP_001010872 Q5T0W9 FA83B_HUMAN Homo sapiens family with sequence similarity 83, member B (FAM83B), mRNA. 998 p.R997Q(1) autonomic_ganglia(1)|breast(2)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(6)|lung(28)|ovary(6)|prostate(6)|skin(6)|upper_aerodigestive_tract(1) 71 Lung NSC(77;0.0178)|Renal(3;0.122) AAGTTTCGAGGATTTATGCAA 0.348000 9 8 0 0 0.003080 0 0 ARL8A 127829 broad.mit.edu 37 1 202104325 202104325 + Missense_Mutation SNP C T T TCGA-D3-A2JA-06A-11D-A196-08 TCGA-D3-A2JA-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx f961ddcc-fb01-4ad1-974e-ccb2656a328e a6cc66c4-23a1-43c8-9989-be2c10aa4f63 g.chr1:202104325C>T uc001gxk.1 - 5 630 c.464G>A c.(463-465)cGa>cAa p.R155Q NM_138795 NP_620150 Q96BM9 ARL8A_HUMAN Homo sapiens ADP-ribosylation factor-like 8A (ARL8A), transcript variant 1, mRNA. 155 cell division|chromosome segregation|mitosis|small GTPase mediated signal transduction late endosome membrane|lysosomal membrane|midbody|spindle midzone GTP binding|GTPase activity|alpha-tubulin binding|beta-tubulin binding large_intestine(1)|lung(2)|ovary(2)|skin(1) 6 GCAGATCTCTCGGTCCTGGAT 0.567000 OREG0012976 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 69 6 0 0 0.001984 0 0 PAXIP1 22976 broad.mit.edu 37 7 154754118 154754118 + Silent SNP G A A TCGA-D3-A2JA-06A-11D-A196-08 TCGA-D3-A2JA-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx f961ddcc-fb01-4ad1-974e-ccb2656a328e a6cc66c4-23a1-43c8-9989-be2c10aa4f63 g.chr7:154754118G>A uc022aqg.1 - 9 2083 c.2040C>T c.(2038-2040)gtC>gtT p.V680V PAXIP1_uc022aqf.1_Silent_p.V680V|PAXIP1_uc022aqh.1_Silent_p.V646V|PAXIP1_uc022aqi.1_Silent_p.V644V NM_007349 NP_031375 Q6ZW49 PAXI1_HUMAN Homo sapiens PAX interacting (with transcription-activation domain) protein 1 (PAXIP1), mRNA. 680 BRCT 3.|Interaction with TP53BP1. DNA damage response, signal transduction by p53 class mediator|DNA recombination|DNA repair|histone H3-K4 methylation|positive regulation of histone H3-K36 methylation|positive regulation of histone H3-K4 methylation|positive regulation of histone acetylation|positive regulation of isotype switching|positive regulation of protein ubiquitination|positive regulation of transcription initiation from RNA polymerase II promoter|response to ionizing radiation|transcription, DNA-dependent histone methyltransferase complex|nuclear matrix NS(1)|breast(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(9)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|stomach(1)|urinary_tract(1) 33 all_neural(206;0.119) all_hematologic(28;0.0592) OV - Ovarian serous cystadenocarcinoma(82;0.0296) UCEC - Uterine corpus endometrioid carcinoma (81;0.178) TCTTCTTTAAGACTGTGTTTA 0.438000 53 24 0 0 0.003330 0 0 VPS72 6944 broad.mit.edu 37 1 151156850 151156850 + Nonsense_Mutation SNP G A A TCGA-D3-A2JA-06A-11D-A196-08 TCGA-D3-A2JA-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx f961ddcc-fb01-4ad1-974e-ccb2656a328e a6cc66c4-23a1-43c8-9989-be2c10aa4f63 g.chr1:151156850G>A uc001exe.1 - 3 548 c.505C>T c.(505-507)Cag>Tag p.Q169* VPS72_uc001exf.1_Nonsense_Mutation_p.Q169* NM_005997 NP_005988 Q15906 VPS72_HUMAN Homo sapiens vacuolar protein sorting 72 homolog (S. cerevisiae) (VPS72), mRNA. 169 chromatin modification|negative regulation of transcription from RNA polymerase II promoter nucleus|protein complex DNA binding|sequence-specific DNA binding transcription factor activity breast(1)|cervix(1)|endometrium(1)|large_intestine(1)|lung(6)|pancreas(1)|skin(2)|upper_aerodigestive_tract(1) 14 Lung SC(34;0.00471)|Ovarian(49;0.0147)|all_hematologic(923;0.0597)|Hepatocellular(266;0.0997)|Melanoma(130;0.185) UCEC - Uterine corpus endometrioid carcinoma (35;0.0486)|LUSC - Lung squamous cell carcinoma(543;0.211) AGTTCCTCCTGGGTTAGTGGC 0.557000 171 39 0 0 0.007835 0 0 OR2T12 127064 broad.mit.edu 37 1 248458364 248458364 + Missense_Mutation SNP C T T rs146983185 TCGA-D3-A2JA-06A-11D-A196-08 TCGA-D3-A2JA-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx f961ddcc-fb01-4ad1-974e-ccb2656a328e a6cc66c4-23a1-43c8-9989-be2c10aa4f63 g.chr1:248458364C>T uc010pzj.2 - 0 517 c.517G>A c.(517-519)Gat>Aat p.D173N NM_001004692 NP_001004692 Q8NG77 O2T12_HUMAN Homo sapiens olfactory receptor, family 2, subfamily T, member 12 (OR2T12), mRNA. 173 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity p.D173N(2) endometrium(4)|kidney(3)|large_intestine(3)|lung(25)|ovary(1)|pancreas(1)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1) 43 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;0.0201) AAGAAGTGATCGATCTCGTGT 0.562000 63 22 0 0 0.001882 0 0 KIAA1755 85449 broad.mit.edu 37 20 36869541 36869541 + Missense_Mutation SNP G A A TCGA-D3-A2JA-06A-11D-A196-08 TCGA-D3-A2JA-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx f961ddcc-fb01-4ad1-974e-ccb2656a328e a6cc66c4-23a1-43c8-9989-be2c10aa4f63 g.chr20:36869541G>A uc002xhy.1 - 2 1264 c.992C>T c.(991-993)tCc>tTc p.S331F KIAA1755_uc002xhz.1_Missense_Mutation_p.S331F NM_001029864 NP_001025035 Q5JYT7 K1755_HUMAN Homo sapiens KIAA1755 (KIAA1755), mRNA. 331 breast(2)|endometrium(3)|kidney(1)|large_intestine(5)|lung(31)|ovary(5)|pancreas(2)|skin(4)|stomach(1) 54 Myeloproliferative disorder(115;0.00874) ATTTCCCAAGGAAGGTCCTTC 0.488000 270 52 0 0 0.003610 0 0 MUC16 94025 broad.mit.edu 37 19 9086812 9086812 + Missense_Mutation SNP C T T TCGA-D3-A2JA-06A-11D-A196-08 TCGA-D3-A2JA-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx f961ddcc-fb01-4ad1-974e-ccb2656a328e a6cc66c4-23a1-43c8-9989-be2c10aa4f63 g.chr19:9086812C>T uc002mkp.3 - 0 5207 c.5003G>A c.(5002-5004)aGa>aAa p.R1668K NM_024690 NP_078966 Q8WXI7 MUC16_HUMAN Homo sapiens mucin 16, cell surface associated (MUC16), mRNA. 1668 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 AGAACTTCTTCTTTCCAGTGC 0.512000 83 22 0 0 0.002780 0 0 GGA1 26088 broad.mit.edu 37 22 38010228 38010228 + Silent SNP C T T TCGA-D3-A2JA-06A-11D-A196-08 TCGA-D3-A2JA-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx f961ddcc-fb01-4ad1-974e-ccb2656a328e a6cc66c4-23a1-43c8-9989-be2c10aa4f63 g.chr22:38010228C>T uc003atc.3 + 1 462 c.75C>T c.(73-75)ctC>ctT p.L25L GGA1_uc003atb.3_Silent_p.L25L|GGA1_uc003ate.3_Silent_p.L25L|GGA1_uc003atd.3_Silent_p.L25L|GGA1_uc003atf.3_5'UTR NM_013365 NP_001166159 Q9UJY5 GGA1_HUMAN Homo sapiens golgi-associated, gamma adaptin ear containing, ARF binding protein 1 (GGA1), transcript variant 1, mRNA. 25 VHS. intracellular protein transport|vesicle-mediated transport Golgi apparatus part|clathrin adaptor complex|endosome membrane protein binding breast(2)|endometrium(2)|kidney(1)|large_intestine(2)|lung(1)|ovary(1)|urinary_tract(1) 10 Melanoma(58;0.0574) ACAAGGAGCTCGACTGGGCCA 0.602000 64 28 0 0 0.002096 0 0 GSTCD 79807 broad.mit.edu 37 4 106766676 106766676 + Missense_Mutation SNP C T T TCGA-D3-A2JA-06A-11D-A196-08 TCGA-D3-A2JA-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx f961ddcc-fb01-4ad1-974e-ccb2656a328e a6cc66c4-23a1-43c8-9989-be2c10aa4f63 g.chr4:106766676C>T uc003hxz.4 + 11 1916 c.1844C>T c.(1843-1845)tCc>tTc p.S615F GSTCD_uc003hxy.4_Missense_Mutation_p.S528F|GSTCD_uc011cfb.2_Missense_Mutation_p.S238F NM_001031720 NP_001026890 Q8NEC7 GSTCD_HUMAN Homo sapiens glutathione S-transferase, C-terminal domain containing (GSTCD), transcript variant 1, mRNA. 615 cytoplasm rRNA methyltransferase activity breast(2)|central_nervous_system(1)|endometrium(2)|large_intestine(5)|lung(2)|ovary(1)|skin(1) 14 Hepatocellular(203;0.217) OV - Ovarian serous cystadenocarcinoma(123;3.15e-07)|READ - Rectum adenocarcinoma(30;0.139) CAAGTGATATCCATGGAGCCA 0.433000 31 15 0 0 0.003163 0 0 TCF12 6938 broad.mit.edu 37 15 57535737 57535737 + Missense_Mutation SNP C T T TCGA-D3-A2JA-06A-11D-A196-08 TCGA-D3-A2JA-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx f961ddcc-fb01-4ad1-974e-ccb2656a328e a6cc66c4-23a1-43c8-9989-be2c10aa4f63 g.chr15:57535737C>T uc002aec.3 + 12 1387 c.1103C>T c.(1102-1104)tCa>tTa p.S368L TCF12_uc010ugm.1_Missense_Mutation_p.S420L|TCF12_uc010ugn.1_Missense_Mutation_p.S364L|TCF12_uc002aea.3_Missense_Mutation_p.S368L|TCF12_uc010bfs.3_Intron|TCF12_uc002aeb.3_Missense_Mutation_p.S368L|TCF12_uc002aed.3_Missense_Mutation_p.S368L|TCF12_uc010ugo.2_Missense_Mutation_p.S132L|TCF12_uc002aee.3_Missense_Mutation_p.S198L|TCF12_uc010bft.3_Missense_Mutation_p.S198L NM_207038 NP_996921 Q99081 HTF4_HUMAN Homo sapiens transcription factor 12 (TCF12), transcript variant 4, mRNA. 368 immune response|muscle organ development|regulation of transcription from RNA polymerase II promoter nucleus DNA binding|protein binding|sequence-specific DNA binding transcription factor activity TCF12/NR4A3(2) breast(2)|central_nervous_system(5)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(1)|lung(13)|ovary(2)|prostate(1)|skin(2)|urinary_tract(1) 36 Colorectal(260;0.0907) all cancers(107;0.000313)|GBM - Glioblastoma multiforme(80;0.00878)|STAD - Stomach adenocarcinoma(283;0.239) GGATCACCTTCACCTCTCACA 0.348000 T TEC extraskeletal myxoid chondrosarcoma 53 19 0 0 0.001523 0 0 TP53 7157 broad.mit.edu 37 17 7578196 7578196 + Missense_Mutation SNP A C C TCGA-D3-A2JA-06A-11D-A196-08 TCGA-D3-A2JA-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx f961ddcc-fb01-4ad1-974e-ccb2656a328e a6cc66c4-23a1-43c8-9989-be2c10aa4f63 g.chr17:7578196A>C uc002gim.2 - 5 847 c.653T>G c.(652-654)gTg>gGg p.V218G TP53_uc002gig.1_Missense_Mutation_p.V218G|TP53_uc002gih.3_Missense_Mutation_p.V218G|TP53_uc010cne.1_5'Flank|TP53_uc010cng.1_Missense_Mutation_p.V86G|TP53_uc010cnf.1_Missense_Mutation_p.V86G|TP53_uc002gii.1_Missense_Mutation_p.V86G|TP53_uc010cni.1_Missense_Mutation_p.V218G|TP53_uc010cnh.1_Missense_Mutation_p.V218G|TP53_uc002gij.2_Missense_Mutation_p.V218G|TP53_uc010cnj.1_Intron|TP53_uc002gin.2_Missense_Mutation_p.V125G|TP53_uc002gio.2_Missense_Mutation_p.V86G|TP53_uc010vug.2_Missense_Mutation_p.V179G|DL476358_uc021tph.1_5'Flank NM_001126112 NP_001119587 P04637 P53_HUMAN Homo sapiens tumor protein p53 (TP53), transcript variant 2, mRNA. 218 Interaction with AXIN1 (By similarity).|Interaction with HIPK1 (By similarity).|Required for interaction with FBXO42. V -> A (in sporadic cancers; somatic mutation).|V -> E (in sporadic cancers; somatic mutation).|V -> G (in sporadic cancers; somatic mutation).|V -> L (in sporadic cancers; somatic mutation).|V -> M (in sporadic cancers; somatic mutation). DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|ER overload response|Ras protein signal transduction|activation of caspase activity by cytochrome c|base-excision repair|blood coagulation|cell cycle arrest|cell differentiation|cell proliferation|cellular protein localization|cellular response to UV|cellular response to drug|cellular response to glucose starvation|cellular response to hypoxia|cellular response to ionizing radiation|determination of adult lifespan|interspecies interaction between organisms|negative regulation of apoptosis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of helicase activity|negative regulation of transcription from RNA polymerase II promoter|nucleotide-excision repair|oxidative stress-induced premature senescence|positive regulation of histone deacetylation|positive regulation of neuron apoptosis|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of reactive oxygen species metabolic process|positive regulation of thymocyte apoptosis|positive regulation of transcription from RNA polymerase II promoter|protein localization|protein tetramerization|regulation of mitochondrial membrane permeability|replicative senescence|response to X-ray|response to antibiotic|response to gamma radiation PML body|cytoplasm|cytosol|endoplasmic reticulum|insoluble fraction|mitochondrion|nuclear chromatin|nuclear matrix|nucleolus|nucleus|protein complex|replication fork ATP binding|DNA strand annealing activity|RNA polymerase II transcription factor binding|chaperone binding|chromatin binding|copper ion binding|damaged DNA binding|histone acetyltransferase binding|p53 binding|protease binding|protein N-terminus binding|protein binding|protein heterodimerization activity|protein kinase binding|protein phosphatase 2A binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|transcription repressor activity|ubiquitin protein ligase binding|zinc ion binding p.V218E(16)|p.V218G(11)|p.?(11)|p.V218del(10)|p.0?(8)|p.V218M(7)|p.V218A(6)|p.V217A(5)|p.V217E(3)|p.V217G(3)|p.V217L(2)|p.V218_Y220delVPY(2)|p.V216_Y220delVVVPY(2)|p.V218_E221delVPYE(2)|p.V218fs*26(2)|p.S215_V218>R(2)|p.V218_E224delVPYEPPE(2)|p.K164_P219del(1)|p.V217fs*33(1)|p.S215fs*27(1)|p.V217M(1)|p.V218_P219insX(1)|p.V218L(1)|p.V217fs*5(1)|p.S215_V218>RR(1)|p.V217V(1)|p.D208fs*1(1)|p.V216fs*28(1)|p.V217del(1)|p.V218V(1)|p.T211fs*28(1)|p.S215_V218>M(1) NS(16)|adrenal_gland(37)|autonomic_ganglia(16)|biliary_tract(273)|bone(108)|breast(2530)|central_nervous_system(1264)|cervix(68)|endometrium(223)|eye(24)|fallopian_tube(1)|gastrointestinal_tract_(site_indeterminate)(1)|genital_tract(16)|haematopoietic_and_lymphoid_tissue(1301)|kidney(96)|large_intestine(5124)|liver(897)|lung(2388)|meninges(5)|oesophagus(1473)|ovary(1659)|pancreas(452)|penis(10)|peritoneum(33)|pituitary(4)|placenta(1)|pleura(3)|prostate(235)|salivary_gland(43)|skin(791)|small_intestine(14)|soft_tissue(220)|stomach(1158)|testis(11)|thymus(21)|thyroid(54)|upper_aerodigestive_tract(2271)|urinary_tract(1259)|vagina(6)|vulva(79) 24185 all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081) GBM - Glioblastoma multiforme(2;1.59e-06)|READ - Rectum adenocarcinoma(115;0.174) CTCATAGGGCACCACCACACT 0.552000 111 """Mis, N, F""" """breast, colorectal, lung, sarcoma, adrenocortical, glioma, multiple other tumour types""" """breast, sarcoma, adrenocortical carcinoma, glioma, multiple other tumour types""" Other conserved DNA damage response genes Osteosarcoma, Familial Clustering of;Li-Fraumeni syndrome;Hereditary Breast-Ovarian Cancer, non-BRCA1/2;Hereditary Adrenocortical Cancer;Endometrial Cancer, Familial Clustering of HNSCC(1;<9.43e-08)|TCGA GBM(1;<1E-08)|TSP Lung(2;<1E-08)|TCGA Ovarian(1;<1.89e-07)|Multiple Myeloma(5;0.019) 10 10 0 0 0.001368 0 0 HNF4G 3174 broad.mit.edu 37 8 76465345 76465345 + Silent SNP C T T TCGA-D3-A2JA-06A-11D-A196-08 TCGA-D3-A2JA-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx f961ddcc-fb01-4ad1-974e-ccb2656a328e a6cc66c4-23a1-43c8-9989-be2c10aa4f63 g.chr8:76465345C>T uc003yaq.3 + 5 687 c.417C>T c.(415-417)gtC>gtT p.V139V HNF4G_uc003yar.3_Silent_p.V176V NM_004133 NP_004124 Q14541 HNF4G_HUMAN Homo sapiens hepatocyte nuclear factor 4, gamma (HNF4G), mRNA. 139 endocrine pancreas development|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor nucleoplasm sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|steroid hormone receptor activity|zinc ion binding breast(1)|central_nervous_system(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(3)|lung(10)|ovary(1)|prostate(3)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(2) 37 Breast(64;0.0448) BRCA - Breast invasive adenocarcinoma(89;0.161) TTGGTGATGTCTGTGAATCTA 0.363000 30 40 0 0 0.005524 0 0 GRIN2A 2903 broad.mit.edu 37 16 9916194 9916194 + Missense_Mutation SNP G A A TCGA-D3-A2JA-06A-11D-A196-08 TCGA-D3-A2JA-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx f961ddcc-fb01-4ad1-974e-ccb2656a328e a6cc66c4-23a1-43c8-9989-be2c10aa4f63 g.chr16:9916194G>A uc010uym.2 - 10 2405 c.2095C>T c.(2095-2097)Ccc>Tcc p.P699S GRIN2A_uc002czo.4_Missense_Mutation_p.P699S|GRIN2A_uc010uyn.2_Missense_Mutation_p.P542S|GRIN2A_uc002czr.4_Missense_Mutation_p.P699S NM_000833 NP_001127879 Q12879 NMDE1_HUMAN Homo sapiens glutamate receptor, ionotropic, N-methyl D-aspartate 2A (GRIN2A), transcript variant 2, mRNA. 699 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|zinc ion binding NS(7)|breast(5)|cervix(1)|endometrium(11)|kidney(6)|large_intestine(36)|lung(71)|ovary(4)|prostate(9)|skin(45)|upper_aerodigestive_tract(2)|urinary_tract(1) 198 Felbamate(DB00949)|Glycine(DB00145)|L-Glutamic Acid(DB00142)|Loperamide(DB00836)|Memantine(DB01043) TGCATGTAGGGATAGTTATTC 0.458000 58 19 0 0 0.007413 0 0 ODZ2 57451 broad.mit.edu 37 5 167642052 167642052 + Missense_Mutation SNP C T T TCGA-D3-A2JA-06A-11D-A196-08 TCGA-D3-A2JA-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx f961ddcc-fb01-4ad1-974e-ccb2656a328e a6cc66c4-23a1-43c8-9989-be2c10aa4f63 g.chr5:167642052C>T uc010jjd.3 + 20 3826 c.3826C>T c.(3826-3828)Cca>Tca p.P1276S ODZ2_uc003lzr.4_Missense_Mutation_p.P1046S|ODZ2_uc003lzt.4_Missense_Mutation_p.P649S|ODZ2_uc010jje.3_Missense_Mutation_p.P540S NM_001122679 NP_001116151 Homo sapiens odz, odd Oz/ten-m homolog 2 (Drosophila) (ODZ2), mRNA. NS(1)|autonomic_ganglia(1)|breast(5)|central_nervous_system(4)|cervix(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(29)|lung(45)|ovary(8)|pancreas(1)|prostate(3)|skin(2)|stomach(2)|urinary_tract(2) 122 Renal(175;0.00124)|Lung NSC(126;0.136)|all_lung(126;0.242) Medulloblastoma(196;0.0241)|all_neural(177;0.026) Kidney(164;7.53e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525) all cancers(165;0.0444)|OV - Ovarian serous cystadenocarcinoma(192;0.0694)|Epithelial(171;0.124) AAGCAACAACCCAGCACACAA 0.517000 22 4 0 0 0.000248 0 0 MYO3A 53904 broad.mit.edu 37 10 26377306 26377306 + Missense_Mutation SNP G A A TCGA-D3-A2JA-06A-11D-A196-08 TCGA-D3-A2JA-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx f961ddcc-fb01-4ad1-974e-ccb2656a328e a6cc66c4-23a1-43c8-9989-be2c10aa4f63 g.chr10:26377306G>A uc001isn.2 + 14 1894 c.1534G>A c.(1534-1536)Gaa>Aaa p.E512K MYO3A_uc009xko.1_Missense_Mutation_p.E512K|MYO3A_uc009xkp.1_Non-coding_Transcript|MYO3A_uc009xkq.1_Missense_Mutation_p.E512K NM_017433 NP_059129 Q8NEV4 MYO3A_HUMAN Homo sapiens myosin IIIA (MYO3A), mRNA. 512 Myosin head-like. protein autophosphorylation|response to stimulus|sensory perception of sound|visual perception cytoplasm|filamentous actin|filopodium|myosin complex ADP binding|ATP binding|actin binding|actin-dependent ATPase activity|calmodulin binding|plus-end directed microfilament motor activity|protein serine/threonine kinase activity p.L511L(1) NS(2)|breast(9)|central_nervous_system(3)|endometrium(9)|kidney(10)|large_intestine(28)|liver(1)|lung(46)|ovary(11)|pancreas(1)|prostate(6)|skin(11)|stomach(6)|upper_aerodigestive_tract(1)|urinary_tract(2) 146 ATATCTCCTGGAAAAATCCCG 0.343000 25 10 0 0 0.001368 0 0 PACS1 55690 broad.mit.edu 37 11 66009114 66009114 + Missense_Mutation SNP G C C TCGA-D3-A2JA-06A-11D-A196-08 TCGA-D3-A2JA-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx f961ddcc-fb01-4ad1-974e-ccb2656a328e a6cc66c4-23a1-43c8-9989-be2c10aa4f63 g.chr11:66009114G>C uc001oha.2 + 21 2780 c.2646G>C c.(2644-2646)aaG>aaC p.K882N PACS1_uc010rou.2_Missense_Mutation_p.K418N NM_018026 NP_060496 Q6VY07 PACS1_HUMAN Homo sapiens phosphofurin acidic cluster sorting protein 1 (PACS1), mRNA. 882 K -> L (in Ref. 1; AAQ67682). interspecies interaction between organisms|regulation of defense response to virus by virus|viral reproduction cytosol protein binding RBM14/PACS1(2) breast(1)|central_nervous_system(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(8)|lung(8)|ovary(6)|skin(2)|urinary_tract(1) 37 CCAAAGAAAAGAACAAGAAAG 0.572000 80 4 0 0 0.000248 0 0 PLA1A 51365 broad.mit.edu 37 3 119334882 119334882 + Missense_Mutation SNP G A A TCGA-D3-A2JA-06A-11D-A196-08 TCGA-D3-A2JA-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx f961ddcc-fb01-4ad1-974e-ccb2656a328e a6cc66c4-23a1-43c8-9989-be2c10aa4f63 g.chr3:119334882G>A uc003ecu.3 + 5 754 c.688G>A c.(688-690)Gga>Aga p.G230R PLA1A_uc003ecv.3_Missense_Mutation_p.G214R|PLA1A_uc011bjc.2_Missense_Mutation_p.G57R|PLA1A_uc003ecw.3_Non-coding_Transcript NM_015900 NP_001193890 Q53H76 PLA1A_HUMAN Homo sapiens phospholipase A1 member A (PLA1A), transcript variant 1, mRNA. 230 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 GATTCCCGTTGGACATGTGGA 0.517000 26 13 0 0 0.003163 0 0 OR51B2 79345 broad.mit.edu 37 11 5345263 5345263 + Missense_Mutation SNP C T T TCGA-D3-A2JA-06A-11D-A196-08 TCGA-D3-A2JA-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx f961ddcc-fb01-4ad1-974e-ccb2656a328e a6cc66c4-23a1-43c8-9989-be2c10aa4f63 g.chr11:5345263C>T uc001mao.1 - 0 320 c.265G>A c.(265-267)Gag>Aag p.E89K HBG1_uc001mak.1_Intron|HBE1_uc001mam.1_Intron NM_033180 NP_149420 Q9Y5P1 O51B2_HUMAN Homo sapiens olfactory receptor, family 51, subfamily B, member 2 (OR51B2), mRNA. 89 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity NS(1)|biliary_tract(1)|central_nervous_system(1)|large_intestine(6)|lung(21)|ovary(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1) 35 Medulloblastoma(188;0.00225)|Breast(177;0.0155)|all_neural(188;0.0212) Epithelial(150;2.9e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135) CTGCTAATCTCCCTGTGATTC 0.493000 21 44 0 0 0.008740 0 0 APOB 338 broad.mit.edu 37 2 21232161 21232161 + Missense_Mutation SNP C T T TCGA-D3-A2JA-06A-11D-A196-08 TCGA-D3-A2JA-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx f961ddcc-fb01-4ad1-974e-ccb2656a328e a6cc66c4-23a1-43c8-9989-be2c10aa4f63 g.chr2:21232161C>T uc002red.3 - 25 7707 c.7579G>A c.(7579-7581)Gac>Aac p.D2527N NM_000384 NP_000375 P04114 APOB_HUMAN Homo sapiens apolipoprotein B (including Ag(x) antigen) (APOB), mRNA. 2527 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 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) TGCTGAATGTCCATTTGATAC 0.448000 648 159 0 0 0.003610 0 0 C10orf10 11067 broad.mit.edu 37 10 45473421 45473421 + Missense_Mutation SNP C T T TCGA-D3-A2JA-06A-11D-A196-08 TCGA-D3-A2JA-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx f961ddcc-fb01-4ad1-974e-ccb2656a328e a6cc66c4-23a1-43c8-9989-be2c10aa4f63 g.chr10:45473421C>T uc001jbr.4 - 1 348 c.58G>A c.(58-60)Gag>Aag p.E20K RASSF4_uc001jbo.3_Intron|RASSF4_uc001jbp.3_Intron|RASSF4_uc009xmn.3_Intron|RASSF4_uc001jbq.3_Intron|C10orf10_uc021ppn.1_Missense_Mutation_p.E20K NM_007021 NP_008952 Q9NTK1 DEPP_HUMAN Homo sapiens chromosome 10 open reading frame 10 (C10orf10), mRNA. 20 mitochondrion lung(1) 1 AGCATCTCCTCCGTGGTCTCC 0.607000 80 22 0 0 0.002780 0 0 PTPRC 5788 broad.mit.edu 37 1 198711073 198711073 + Missense_Mutation SNP G A A TCGA-D3-A2JA-06A-11D-A196-08 TCGA-D3-A2JA-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx f961ddcc-fb01-4ad1-974e-ccb2656a328e a6cc66c4-23a1-43c8-9989-be2c10aa4f63 g.chr1:198711073G>A uc001gur.1 + 23 2653 c.2473G>A c.(2473-2475)Gat>Aat p.D825N PTPRC_uc001gut.1_Missense_Mutation_p.D664N NM_002838 NP_002829 P08575 PTPRC_HUMAN Homo sapiens protein tyrosine phosphatase, receptor type, C (PTPRC), transcript variant 1, mRNA. 825 Tyrosine-protein phosphatase 1. B cell proliferation|B cell receptor signaling pathway|T cell differentiation|T cell receptor signaling pathway|axon guidance|defense response to virus|immunoglobulin biosynthetic process|negative regulation of T cell mediated cytotoxicity|negative regulation of cytokine-mediated signaling pathway|negative regulation of protein kinase activity|positive regulation of B cell proliferation|positive regulation of T cell proliferation|positive regulation of antigen receptor-mediated signaling pathway|positive regulation of protein kinase activity|regulation of S phase|release of sequestered calcium ion into cytosol focal adhesion|integral to plasma membrane|membrane raft protein kinase binding|transmembrane receptor protein tyrosine phosphatase activity breast(7)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(22)|lung(41)|ovary(4)|pancreas(2)|prostate(1)|skin(13)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(3) 111 GGTGCCTGAGGATCCTCACTT 0.453000 23 13 0 0 0.003163 0 0 PCLO 27445 broad.mit.edu 37 7 82584073 82584073 + Missense_Mutation SNP C T T TCGA-D3-A2JA-06A-11D-A196-08 TCGA-D3-A2JA-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx f961ddcc-fb01-4ad1-974e-ccb2656a328e a6cc66c4-23a1-43c8-9989-be2c10aa4f63 g.chr7:82584073C>T uc003uhx.2 - 4 6485 c.6196G>A c.(6196-6198)Gaa>Aaa p.E2066K PCLO_uc003uhv.2_Missense_Mutation_p.E2066K NM_033026 NP_149015 Q9Y6V0 PCLO_HUMAN Homo sapiens piccolo (presynaptic cytomatrix protein) (PCLO), transcript variant 1, mRNA. 1997 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 ATAAGTTCTTCATAGGCAGCA 0.453000 69 28 0 0 0.002096 0 0 SORBS1 10580 broad.mit.edu 37 10 97096734 97096734 + Silent SNP G C C rs117778203 byFrequency TCGA-D3-A2JA-06A-11D-A196-08 TCGA-D3-A2JA-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx f961ddcc-fb01-4ad1-974e-ccb2656a328e a6cc66c4-23a1-43c8-9989-be2c10aa4f63 g.chr10:97096734G>C uc001kkp.3 - 27 3228 c.3183C>G c.(3181-3183)acC>acG p.T1061T SORBS1_uc001kkk.3_Intron|SORBS1_uc001kkl.3_Intron|SORBS1_uc001kkn.3_Intron|SORBS1_uc001kkm.3_Intron|SORBS1_uc001kko.3_Intron|SORBS1_uc001kkq.3_Intron|SORBS1_uc001kkr.3_Intron|SORBS1_uc001kks.3_Intron|SORBS1_uc001kkt.3_Intron|SORBS1_uc001kku.3_Intron|SORBS1_uc001kkv.3_Intron|SORBS1_uc001kkw.3_Silent_p.T1015T|SORBS1_uc010qoe.2_Intron NM_001034954 NP_001030126 Q9BX66 SRBS1_HUMAN Homo sapiens sorbin and SH3 domain containing 1 (SORBS1), transcript variant 3, mRNA. 1061 focal adhesion assembly|glucose transport|insulin receptor signaling pathway|muscle contraction|positive regulation of establishment of protein localization in plasma membrane|positive regulation of glucose import|positive regulation of glycogen biosynthetic process|positive regulation of lipid biosynthetic process|stress fiber assembly centrosome|cytosol|focal adhesion|membrane raft|nucleus|stress fiber|zonula adherens SH3/SH2 adaptor activity|actin binding|insulin receptor binding NS(1)|breast(3)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(7)|lung(19)|prostate(3)|skin(2)|stomach(1)|upper_aerodigestive_tract(1) 42 Colorectal(252;0.0429) Epithelial(162;1.7e-06)|all cancers(201;6.52e-05) CTAGGGAGTAGGTTTTGTGTG 0.567000 54 17 0 0 0.008871 0 0 PLEKHH2 130271 broad.mit.edu 37 2 43926991 43926991 + Silent SNP C T T TCGA-D3-A2JA-06A-11D-A196-08 TCGA-D3-A2JA-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx f961ddcc-fb01-4ad1-974e-ccb2656a328e a6cc66c4-23a1-43c8-9989-be2c10aa4f63 g.chr2:43926991C>T uc010yny.2 + 7 977 c.894C>T c.(892-894)tcC>tcT p.S298S PLEKHH2_uc002rte.3_Silent_p.S298S|PLEKHH2_uc002rtf.3_Silent_p.S297S NM_172069 NP_742066 Q8IVE3 PKHH2_HUMAN Homo sapiens pleckstrin homology domain containing, family H (with MyTH4 domain) member 2 (PLEKHH2), mRNA. 298 cytoplasm|cytoskeleton|integral to membrane binding NS(1)|breast(1)|central_nervous_system(1)|endometrium(3)|kidney(4)|large_intestine(12)|lung(24)|pancreas(1)|prostate(1)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(1) 56 all_hematologic(82;0.166)|Acute lymphoblastic leukemia(82;0.17) AAGGAAGATCCAAGTCCAGAT 0.517000 307 146 0 0 0.003610 0 0 SEC14L3 266629 broad.mit.edu 37 22 30866026 30866026 + Missense_Mutation SNP G A A TCGA-D3-A2JA-06A-11D-A196-08 TCGA-D3-A2JA-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx f961ddcc-fb01-4ad1-974e-ccb2656a328e a6cc66c4-23a1-43c8-9989-be2c10aa4f63 g.chr22:30866026G>A uc003ahy.3 - 3 303 c.214C>T c.(214-216)Ctt>Ttt p.L72F SEC14L3_uc003ahz.3_5'UTR|SEC14L3_uc003aia.3_Missense_Mutation_p.L13F|SEC14L3_uc003aib.3_Missense_Mutation_p.L13F NM_174975 NP_777635 Q9UDX4 S14L3_HUMAN Homo sapiens SEC14-like 3 (S. cerevisiae) (SEC14L3), mRNA. 72 integral to membrane|intracellular lipid binding|transporter activity NS(1)|cervix(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(3)|ovary(3)|pancreas(1)|skin(2)|urinary_tract(1) 19 Vitamin E(DB00163) TGCCAATCAAGGATATGGTCA 0.547000 166 66 0 0 0.003610 0 0 SSH1 54434 broad.mit.edu 37 12 109182215 109182215 + Missense_Mutation SNP G A A TCGA-D3-A2JA-06A-11D-A196-08 TCGA-D3-A2JA-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx f961ddcc-fb01-4ad1-974e-ccb2656a328e a6cc66c4-23a1-43c8-9989-be2c10aa4f63 g.chr12:109182215G>A uc001tnm.3 - 14 2786 c.2699C>T c.(2698-2700)cCt>cTt p.P900L SSH1_uc001tnl.3_Missense_Mutation_p.P588L NM_018984 NP_061857 Q8WYL5 SSH1_HUMAN Homo sapiens slingshot homolog 1 (Drosophila) (SSH1), transcript variant 1, mRNA. 900 Interaction with YWHAG. 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 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 GTAGAAGAAAGGAGGGGGGCT 0.587000 54 12 0 0 0.001368 0 0 CACNA1E 777 broad.mit.edu 37 1 181727964 181727964 + Missense_Mutation SNP C T T TCGA-D3-A2JA-06A-11D-A196-08 TCGA-D3-A2JA-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx f961ddcc-fb01-4ad1-974e-ccb2656a328e a6cc66c4-23a1-43c8-9989-be2c10aa4f63 g.chr1:181727964C>T uc009wxt.3 + 31 4760 c.4565C>T c.(4564-4566)tCc>tTc p.S1522F CACNA1E_uc001gow.3_Missense_Mutation_p.S1522F|CACNA1E_uc009wxs.3_Missense_Mutation_p.S1503F|CACNA1E_uc001gox.1_Missense_Mutation_p.S748F NM_001205293 NP_001192222 Q15878 CAC1E_HUMAN Homo sapiens calcium channel, voltage-dependent, R type, alpha 1E subunit (CACNA1E), transcript variant 1, mRNA. 1522 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 ATGGTGTTTTCCCTGGAATGT 0.478000 47 43 0 0 0.003610 0 0 SACS 26278 broad.mit.edu 37 13 23913792 23913792 + Missense_Mutation SNP A G G TCGA-D3-A2JA-06A-11D-A196-08 TCGA-D3-A2JA-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx f961ddcc-fb01-4ad1-974e-ccb2656a328e a6cc66c4-23a1-43c8-9989-be2c10aa4f63 g.chr13:23913792A>G uc001uon.2 - 9 4812 c.4223T>C c.(4222-4224)cTt>cCt p.L1408P SACS_uc001uoo.2_Missense_Mutation_p.L1261P|SACS_uc001uop.1_Intron|SACS_uc001uoq.1_Intron NM_014363 NP_055178 Q9NZJ4 SACS_HUMAN Homo sapiens spastic ataxia of Charlevoix-Saguenay (sacsin) (SACS), mRNA. 1408 cell death|negative regulation of inclusion body assembly|protein folding axon|cell body fiber|dendrite|mitochondrion|nucleus ATP binding|Hsp70 protein binding|chaperone binding|proteasome binding NS(1)|biliary_tract(1)|breast(3)|central_nervous_system(2)|endometrium(22)|haematopoietic_and_lymphoid_tissue(1)|kidney(15)|large_intestine(54)|lung(49)|ovary(7)|pancreas(1)|prostate(4)|skin(10)|stomach(2)|upper_aerodigestive_tract(6)|urinary_tract(11) 189 all_cancers(29;1.51e-22)|all_epithelial(30;7.82e-19)|all_lung(29;4.71e-18)|Lung SC(185;0.0225)|Breast(139;0.128) all cancers(112;0.00197)|Epithelial(112;0.00854)|OV - Ovarian serous cystadenocarcinoma(117;0.0298)|Lung(94;0.189) TAAGTCATTAAGGTCATCAAC 0.378000 45 17 0 0 0.004990 0 0 FCGBP 8857 broad.mit.edu 37 19 40408528 40408528 + Silent SNP C T T TCGA-D3-A2JA-06A-11D-A196-08 TCGA-D3-A2JA-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx f961ddcc-fb01-4ad1-974e-ccb2656a328e a6cc66c4-23a1-43c8-9989-be2c10aa4f63 g.chr19:40408528C>T uc002omp.4 - 7 4319 c.4311G>A c.(4309-4311)ggG>ggA p.G1437G NM_003890 NP_003881 Q9Y6R7 FCGBP_HUMAN Homo sapiens Fc fragment of IgG binding protein (FCGBP), mRNA. 1437 VWFD 3. extracellular region protein binding p.P1436L(1) 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) AGTCCTCGCTCCCCGGCGGGC 0.647000 53 25 0 0 0.005443 0 0 HECW1 23072 broad.mit.edu 37 7 43484697 43484697 + Silent SNP T C C TCGA-D3-A2JA-06A-11D-A196-08 TCGA-D3-A2JA-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx f961ddcc-fb01-4ad1-974e-ccb2656a328e a6cc66c4-23a1-43c8-9989-be2c10aa4f63 g.chr7:43484697T>C uc003tid.1 + 10 2531 c.1926T>C c.(1924-1926)aaT>aaC p.N642N HECW1_uc011kbi.1_Silent_p.N642N NM_015052 NP_055867 Q76N89 HECW1_HUMAN Homo sapiens HECT, C2 and WW domain containing E3 ubiquitin protein ligase 1 (HECW1), mRNA. 642 protein ubiquitination involved in ubiquitin-dependent protein catabolic process cytoplasm|nucleus ubiquitin-protein ligase activity NS(2)|breast(10)|central_nervous_system(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(17)|lung(57)|ovary(8)|pancreas(2)|prostate(2)|skin(6)|urinary_tract(3) 125 GCCTGGCCAATGGCGCGGCCC 0.711000 18 11 0 0 0.001368 0 0 RYR3 6263 broad.mit.edu 37 15 33954696 33954696 + Silent SNP G T T TCGA-D3-A2JA-06A-11D-A196-08 TCGA-D3-A2JA-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx f961ddcc-fb01-4ad1-974e-ccb2656a328e a6cc66c4-23a1-43c8-9989-be2c10aa4f63 g.chr15:33954696G>T uc001zhi.3 + 34 5035 c.4965G>T c.(4963-4965)gtG>gtT p.V1655V RYR3_uc010bar.3_Silent_p.V1655V NM_001036 NP_001027 Q15413 RYR3_HUMAN Homo sapiens ryanodine receptor 3 (RYR3), transcript variant 1, mRNA. 1655 4 X approximate repeats. cellular calcium ion homeostasis integral to membrane calcium ion binding|receptor activity|ryanodine-sensitive calcium-release channel activity NS(3)|breast(9)|central_nervous_system(8)|cervix(2)|endometrium(29)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(55)|lung(148)|ovary(7)|pancreas(1)|prostate(13)|skin(4)|stomach(1)|upper_aerodigestive_tract(8)|urinary_tract(3) 311 all_lung(180;7.18e-09) all cancers(64;8.95e-12)|GBM - Glioblastoma multiforme(186;0.00109)|BRCA - Breast invasive adenocarcinoma(123;0.0363) TGCCTGGGGTGGGCCTGAGAA 0.557000 42 11 0.000978159 0.00109821 0.000978 1 0 BC071797 0 broad.mit.edu 37 21 9769012 9769012 + RNA SNP C T T TCGA-D3-A2JA-06A-11D-A196-08 TCGA-D3-A2JA-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx f961ddcc-fb01-4ad1-974e-ccb2656a328e a6cc66c4-23a1-43c8-9989-be2c10aa4f63 g.chr21:9769012C>T uc011abu.2 + 9 c.987C>T Homo sapiens, clone IMAGE:4720764, mRNA. ACAAACGCTGCCCTTGAAAAG 0.338000 34 9 0 0 0.008291 0 0 SLIT3 6586 broad.mit.edu 37 5 168098445 168098445 + Silent SNP C T T TCGA-D3-A2JA-06A-11D-A196-08 TCGA-D3-A2JA-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx f961ddcc-fb01-4ad1-974e-ccb2656a328e a6cc66c4-23a1-43c8-9989-be2c10aa4f63 g.chr5:168098445C>T uc010jjg.3 - 33 4326 c.3906G>A c.(3904-3906)acG>acA p.T1302T SLIT3_uc003mab.3_Silent_p.T1295T NM_003062 NP_003053 O75094 SLIT3_HUMAN Homo sapiens slit homolog 3 (Drosophila) (SLIT3), mRNA. 1295 Laminin G-like. Roundabout signaling pathway|apoptosis involved in luteolysis|axon extension involved in axon guidance|cellular response to hormone stimulus|negative chemotaxis|negative regulation of cell growth|negative regulation of chemokine-mediated signaling pathway|response to cortisol stimulus extracellular space|mitochondrion Roundabout binding|calcium ion binding endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(15)|liver(2)|lung(48)|ovary(4)|prostate(7)|skin(6)|upper_aerodigestive_tract(3)|urinary_tract(1) 100 Renal(175;0.000159)|Lung NSC(126;0.0174)|all_lung(126;0.0392) Medulloblastoma(196;0.0399)|all_neural(177;0.0966) Kidney(164;7.53e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525) GAGGCCGGTCCGTGCCCTGGC 0.667000 19 7 0 0 0.001984 0 0 TEX19 400629 broad.mit.edu 37 17 80320467 80320467 + Nonsense_Mutation SNP G A A TCGA-D3-A2JA-06A-11D-A196-08 TCGA-D3-A2JA-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx f961ddcc-fb01-4ad1-974e-ccb2656a328e a6cc66c4-23a1-43c8-9989-be2c10aa4f63 g.chr17:80320467G>A uc002keq.3 + 1 751 c.441G>A c.(439-441)tgG>tgA p.W147* TEX19_uc021ufp.1_Nonsense_Mutation_p.W147* NM_207459 NP_997342 Q8NA77 TEX19_HUMAN Homo sapiens testis expressed 19 (TEX19), mRNA. 147 nucleus breast(1)|endometrium(1)|kidney(1)|lung(2)|upper_aerodigestive_tract(1) 6 GTCTTCCCTGGAGATTTGAGG 0.597000 27 30 0 0 0.007291 0 0 GRXCR1 389207 broad.mit.edu 37 4 42895515 42895515 + Missense_Mutation SNP G A A TCGA-D3-A2JA-06A-11D-A196-08 TCGA-D3-A2JA-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx f961ddcc-fb01-4ad1-974e-ccb2656a328e a6cc66c4-23a1-43c8-9989-be2c10aa4f63 g.chr4:42895515G>A uc003gwt.3 + 0 233 c.232G>A c.(232-234)Gat>Aat p.D78N NM_001080476 NP_001073945 A8MXD5 GRCR1_HUMAN Homo sapiens glutaredoxin, cysteine rich 1 (GRXCR1), mRNA. 78 cell redox homeostasis|inner ear receptor stereocilium organization|sensory perception of sound|vestibular receptor cell development kinocilium|stereocilium electron carrier activity|protein disulfide oxidoreductase activity p.D78G(1) breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(22)|ovary(1)|prostate(2)|skin(1) 32 GAATGACCAGGATAGCTTGCT 0.458000 131 41 0 0 0.002522 0 0 CNTNAP4 85445 broad.mit.edu 37 16 76569509 76569509 + Silent SNP C T T TCGA-D3-A2JA-06A-11D-A196-08 TCGA-D3-A2JA-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx f961ddcc-fb01-4ad1-974e-ccb2656a328e a6cc66c4-23a1-43c8-9989-be2c10aa4f63 g.chr16:76569509C>T uc002fex.1 + 16 2971 c.2832C>T c.(2830-2832)acC>acT p.T944T CNTNAP4_uc002feu.1_Silent_p.T940T|CNTNAP4_uc002fev.1_Silent_p.T805T|CNTNAP4_uc010chb.1_Silent_p.T868T NM_033401 NP_207837 Q9C0A0 CNTP4_HUMAN Homo sapiens contactin associated protein-like 4 (CNTNAP4), transcript variant 1, mRNA. 941 Laminin G-like 3. 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 ATGGGATGACCCTGGATTTGG 0.507000 48 14 0 0 0.004990 0 0 SCNN1A 6337 broad.mit.edu 37 12 6457413 6457413 + Missense_Mutation SNP T A A TCGA-D3-A2JA-06A-11D-A196-08 TCGA-D3-A2JA-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx f961ddcc-fb01-4ad1-974e-ccb2656a328e a6cc66c4-23a1-43c8-9989-be2c10aa4f63 g.chr12:6457413T>A uc001qnw.3 - 11 2077 c.1813A>T c.(1813-1815)Acc>Tcc p.T605S SCNN1A_uc001qnv.3_Missense_Mutation_p.T246S|SCNN1A_uc001qnx.3_Missense_Mutation_p.T546S|SCNN1A_uc010sfb.2_Missense_Mutation_p.T569S NM_001159576 NP_001029 P37088 SCNNA_HUMAN Homo sapiens sodium channel, nonvoltage-gated 1 alpha (SCNN1A), transcript variant 2, mRNA. 546 excretion|response to stimulus|sensory perception of taste apical plasma membrane WW domain binding central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|liver(2)|lung(6)|prostate(1)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(1) 27 Amiloride(DB00594)|Triamterene(DB00384) GACAGGAGGGTGACCATCTGT 0.592000 39 17 0 0 0.006122 0 0 MAST4 375449 broad.mit.edu 37 5 66416869 66416869 + Nonsense_Mutation SNP C T T TCGA-D3-A2JA-06A-11D-A196-08 TCGA-D3-A2JA-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx f961ddcc-fb01-4ad1-974e-ccb2656a328e a6cc66c4-23a1-43c8-9989-be2c10aa4f63 g.chr5:66416869C>T uc021xzk.1 + 13 1992 c.1684C>T c.(1684-1686)Cga>Tga p.R562* MAST4_uc003jut.2_Nonsense_Mutation_p.R373*|MAST4_uc003juu.1_Nonsense_Mutation_p.R383*|MAST4_uc011cra.1_Nonsense_Mutation_p.R356*|MAST4_uc003juv.2_Nonsense_Mutation_p.R368*|MAST4_uc003juw.3_Nonsense_Mutation_p.R368* NM_001164664 NP_001158136 O15021 MAST4_HUMAN Homo sapiens microtubule associated serine/threonine kinase family member 4 (MAST4), transcript variant 3, mRNA. 565 cytoplasm ATP binding|magnesium ion binding|protein serine/threonine kinase activity breast(2)|central_nervous_system(1)|kidney(2)|lung(6)|ovary(2) 13 Lung NSC(167;8.56e-06)|Prostate(74;0.00637)|Ovarian(174;0.0563)|Breast(144;0.0586)|Colorectal(97;0.245) Lung(70;0.011) CCTGAAACTTCGAAGGAAACC 0.313000 14 4 0 0 0.000602 0 0 ATXN7L3 56970 broad.mit.edu 37 17 42274653 42274653 + Missense_Mutation SNP G A A TCGA-D3-A2JA-06A-11D-A196-08 TCGA-D3-A2JA-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx f961ddcc-fb01-4ad1-974e-ccb2656a328e a6cc66c4-23a1-43c8-9989-be2c10aa4f63 g.chr17:42274653G>A uc002iga.3 - 2 390 c.299C>T c.(298-300)cCc>cTc p.P100L ATXN7L3_uc010wiv.2_5'Flank|ATXN7L3_uc002ifz.3_Missense_Mutation_p.P100L NM_001098833 NP_001092303 Q14CW9 AT7L3_HUMAN Homo sapiens ataxin 7-like 3 (ATXN7L3), transcript variant 2, mRNA. 100 histone deubiquitination|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent SAGA complex ligand-dependent nuclear receptor transcription coactivator activity|metal ion binding|protein binding kidney(1)|large_intestine(1)|lung(7)|ovary(1)|skin(2) 12 Breast(137;0.00765)|Prostate(33;0.0181) BRCA - Breast invasive adenocarcinoma(366;0.113) CTCCAGATGGGGAGCAAAGCG 0.597000 99 27 0 0 0.005443 0 0 CNTN5 53942 broad.mit.edu 37 11 99690330 99690330 + Missense_Mutation SNP T G G TCGA-D3-A2JA-06A-11D-A196-08 TCGA-D3-A2JA-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx f961ddcc-fb01-4ad1-974e-ccb2656a328e a6cc66c4-23a1-43c8-9989-be2c10aa4f63 g.chr11:99690330T>G uc001pga.3 + 3 615 c.111T>G c.(109-111)atT>atG p.I37M CNTN5_uc009ywv.2_Missense_Mutation_p.I37M|CNTN5_uc001pfz.3_Missense_Mutation_p.I37M|CNTN5_uc021qpb.1_Missense_Mutation_p.I37M|CNTN5_uc021qpc.1_Intron NM_014361 NP_055176 O94779 CNTN5_HUMAN Homo sapiens contactin 5 (CNTN5), transcript variant 1, mRNA. 37 cell adhesion anchored to membrane|plasma membrane protein binding NS(2)|breast(2)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(12)|lung(38)|ovary(2)|pancreas(2)|prostate(2)|skin(7)|upper_aerodigestive_tract(2)|urinary_tract(1) 81 all_hematologic(158;1.22e-05)|Acute lymphoblastic leukemia(157;3.81e-05)|Melanoma(852;0.219) BRCA - Breast invasive adenocarcinoma(274;0.00146)|KIRC - Kidney renal clear cell carcinoma(183;0.156)|Kidney(183;0.196) TGTTAAGAATTAAGAAGAGTT 0.383000 79 16 0 0 0.004990 0 0 PCNT 5116 broad.mit.edu 37 21 47783511 47783511 + Silent SNP G A A TCGA-D3-A2JA-06A-11D-A196-08 TCGA-D3-A2JA-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx f961ddcc-fb01-4ad1-974e-ccb2656a328e a6cc66c4-23a1-43c8-9989-be2c10aa4f63 g.chr21:47783511G>A uc002zji.4 + 13 2378 c.2271G>A c.(2269-2271)gaG>gaA p.E757E PCNT_uc002zjj.3_Silent_p.E639E NM_006031 NP_006022 O95613 PCNT_HUMAN Homo sapiens pericentrin (PCNT), mRNA. 757 Glu-rich. G2/M transition of mitotic cell cycle|cilium assembly cytosol|microtubule calmodulin binding NS(1)|breast(5)|central_nervous_system(2)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(15)|liver(2)|lung(41)|ovary(5)|pancreas(3)|prostate(3)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(2) 104 Breast(49;0.112) TTATGAAGGAGGAGCTACAGC 0.413000 47 19 0 0 0.007413 0 0 CHST4 10164 broad.mit.edu 37 16 71571651 71571651 + Silent SNP G T T TCGA-D3-A2JA-06A-11D-A196-08 TCGA-D3-A2JA-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx f961ddcc-fb01-4ad1-974e-ccb2656a328e a6cc66c4-23a1-43c8-9989-be2c10aa4f63 g.chr16:71571651G>T uc021tkt.1 + 0 1071 c.1071G>T c.(1069-1071)ctG>ctT p.L357L CHST4_uc002fan.3_Silent_p.L357L|CHST4_uc002fao.3_Silent_p.L357L NM_005769 NP_005760 Q8NCG5 CHST4_HUMAN Homo sapiens carbohydrate (N-acetylglucosamine 6-O) sulfotransferase 4 (CHST4), transcript variant 1, mRNA. 357 N-acetylglucosamine metabolic process|cell-cell signaling|immune response|inflammatory response|protein sulfation integral to membrane|intrinsic to Golgi membrane|trans-Golgi network N-acetylglucosamine 6-O-sulfotransferase activity cervix(1)|kidney(3)|large_intestine(9)|lung(6)|prostate(1)|upper_aerodigestive_tract(1) 21 TGAATTTGCTGGGCTACCGCC 0.517000 OREG0023923 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 49 10 1.58986e-06 1.79948e-06 0.008291 1 0 MYF6 4618 broad.mit.edu 37 12 81101829 81101829 + Missense_Mutation SNP G A A TCGA-D3-A2JA-06A-11D-A196-08 TCGA-D3-A2JA-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx f961ddcc-fb01-4ad1-974e-ccb2656a328e a6cc66c4-23a1-43c8-9989-be2c10aa4f63 g.chr12:81101829G>A uc001szf.2 + 0 422 c.331G>A c.(331-333)Gag>Aag p.E111K NM_002469 NP_002460 P23409 MYF6_HUMAN Homo sapiens myogenic factor 6 (herculin) (MYF6), mRNA. 111 Helix-loop-helix motif. muscle cell fate commitment|positive regulation of muscle cell differentiation|positive regulation of transcription from RNA polymerase II promoter|skeletal muscle tissue development nucleoplasm DNA binding|protein heterodimerization activity|sequence-specific DNA binding transcription factor activity central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(5)|lung(12)|skin(1) 26 GAAAATCAACGAGGCCTTCGA 0.582000 42 9 0 0 0.006214 0 0 EDC4 23644 broad.mit.edu 37 16 67913992 67913992 + Missense_Mutation SNP C T T TCGA-D3-A2JA-06A-11D-A196-08 TCGA-D3-A2JA-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx f961ddcc-fb01-4ad1-974e-ccb2656a328e a6cc66c4-23a1-43c8-9989-be2c10aa4f63 g.chr16:67913992C>T uc002eur.3 + 16 2209 c.1970C>T c.(1969-1971)cCc>cTc p.P657L EDC4_uc010cer.3_Missense_Mutation_p.P276L|EDC4_uc010vkg.1_Missense_Mutation_p.P589L|EDC4_uc002eus.3_Missense_Mutation_p.P387L|EDC4_uc002eut.1_5'Flank NM_014329 NP_055144 Q6P2E9 EDC4_HUMAN Homo sapiens enhancer of mRNA decapping 4 (EDC4), mRNA. 657 Ser-rich. exonucleolytic nuclear-transcribed mRNA catabolic process involved in deadenylation-dependent decay cytoplasmic mRNA processing body|cytosol|nucleus protein binding breast(3)|central_nervous_system(2)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(4)|lung(8)|ovary(4)|skin(2)|upper_aerodigestive_tract(4)|urinary_tract(2) 41 Ovarian(137;0.0563) OV - Ovarian serous cystadenocarcinoma(108;0.0042)|Epithelial(162;0.0185)|all cancers(182;0.121) ACCTTGAGCCCCAAGCTGCAG 0.652000 32 4 0 0 0.000602 0 0 DNAH5 1767 broad.mit.edu 37 5 13814899 13814899 + Silent SNP G A A TCGA-D3-A2JA-06A-11D-A196-08 TCGA-D3-A2JA-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx f961ddcc-fb01-4ad1-974e-ccb2656a328e a6cc66c4-23a1-43c8-9989-be2c10aa4f63 g.chr5:13814899G>A uc003jfd.2 - 42 7087 c.7045C>T c.(7045-7047)Ctg>Ttg p.L2349L NM_001369 NP_001360 Q8TE73 DYH5_HUMAN Homo sapiens dynein, axonemal, heavy chain 5 (DNAH5), mRNA. 2349 AAA 2 (By similarity). microtubule-based movement cilium axoneme|cytoplasm|microtubule ATP binding|ATPase activity|microtubule motor activity p.L2349L(2) 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) ACAGAATTCAGATTTTCAATC 0.393000 Kartagener syndrome 35 11 0 0 0.001368 0 0 PWWP2B 170394 broad.mit.edu 37 10 134218848 134218848 + Missense_Mutation SNP C T T TCGA-D3-A2JA-06A-11D-A196-08 TCGA-D3-A2JA-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx f961ddcc-fb01-4ad1-974e-ccb2656a328e a6cc66c4-23a1-43c8-9989-be2c10aa4f63 g.chr10:134218848C>T uc001lll.4 + 1 873 c.844C>T c.(844-846)Ccc>Tcc p.P282S PWWP2B_uc009ybe.3_Missense_Mutation_p.P282S NM_138499 NP_612508 Q6NUJ5 PWP2B_HUMAN Homo sapiens PWWP domain containing 2B (PWWP2B), transcript variant 1, mRNA. 282 central_nervous_system(1)|endometrium(1)|large_intestine(1)|lung(5)|urinary_tract(1) 9 all_cancers(35;6.69e-12)|all_epithelial(44;1.55e-08)|Lung NSC(174;0.000845)|all_lung(145;0.00144)|all_neural(114;0.0299)|Breast(234;0.106)|Colorectal(31;0.109)|Melanoma(40;0.123)|Glioma(114;0.203)|all_hematologic(284;0.224) OV - Ovarian serous cystadenocarcinoma(35;7.49e-05)|Epithelial(32;0.00016)|all cancers(32;0.000186) GCCCTTCCGTCCCCAGCAGGC 0.706000 18 11 0 0 0.002450 0 0 HRH1 3269 broad.mit.edu 37 3 11301853 11301853 + Missense_Mutation SNP G A A TCGA-D3-A2JA-06A-11D-A196-08 TCGA-D3-A2JA-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx f961ddcc-fb01-4ad1-974e-ccb2656a328e a6cc66c4-23a1-43c8-9989-be2c10aa4f63 g.chr3:11301853G>A uc010hdr.3 + 1 1472 c.1130G>A c.(1129-1131)aGg>aAg p.R377K HRH1_uc010hds.3_Missense_Mutation_p.R377K|HRH1_uc010hdt.3_Missense_Mutation_p.R377K|HRH1_uc003bwb.4_Missense_Mutation_p.R377K|HRH1_uc021wtb.1_Missense_Mutation_p.R377K NM_001098213 NP_001091683 P35367 HRH1_HUMAN Homo sapiens histamine receptor H1 (HRH1), transcript variant 1, mRNA. 377 activation of phospholipase C activity by G-protein coupled receptor protein signaling pathway coupled to IP3 second messenger|inflammatory response cytoplasm|integral to plasma membrane|nucleus histamine receptor activity autonomic_ganglia(1)|central_nervous_system(1)|endometrium(4)|large_intestine(3)|lung(11)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2) 25 Aceprometazine(DB01615)|Astemizole(DB00637)|Azatadine(DB00719)|Azelastine(DB00972)|Benzquinamide(DB00767)|Bepotastine(DB04890)|Bromodiphenhydramine(DB01237)|Brompheniramine(DB00835)|Buclizine(DB00354)|Carbinoxamine(DB00748)|Cetirizine(DB00341)|Chlophedianol(DB04837)|Chlorpheniramine(DB01114)|Chlorprothixene(DB01239)|Cinnarizine(DB00568)|Clemastine(DB00283)|Clozapine(DB00363)|Cyclizine(DB01176)|Cyproheptadine(DB00434)|Desipramine(DB01151)|Desloratadine(DB00967)|Dexbrompheniramine(DB00405)|Dimenhydrinate(DB00985)|Diphenhydramine(DB01075)|Diphenylpyraline(DB01146)|Doxepin(DB01142)|Doxylamine(DB00366)|Emedastine(DB01084)|Epinastine(DB00751)|Fexofenadine(DB00950)|Flunarizine(DB04841)|Histamine Phosphate(DB00667)|Hydroxyzine(DB00557)|Ketotifen(DB00920)|Levocabastine(DB01106)|Loratadine(DB00455)|Maprotiline(DB00934)|Meclizine(DB00737)|Mequitazine(DB01071)|Methdilazine(DB00902)|Methotrimeprazine(DB01403)|Mianserin(DB06148)|Mirtazapine(DB00370)|Nedocromil(DB00716)|Olanzapine(DB00334)|Olopatadine(DB00768)|Orphenadrine(DB01173)|Pemirolast(DB00885)|Phenindamine(DB01619)|Pheniramine(DB01620)|Prochlorperazine(DB00433)|Promazine(DB00420)|Promethazine(DB01069)|Propiomazine(DB00777)|Quetiapine(DB01224)|Risperidone(DB00734)|Terfenadine(DB00342)|Thiethylperazine(DB00372)|Trazodone(DB00656)|Trimeprazine(DB01246)|Tripelennamine(DB00792)|Triprolidine(DB00427)|Ziprasidone(DB00246) GGCAAATTGAGGAGTGGGTCT 0.488000 22 26 0 0 0.003954 0 0 ITGA9 3680 broad.mit.edu 37 3 37574877 37574877 + Missense_Mutation SNP T G G TCGA-D3-A2JA-06A-11D-A196-08 TCGA-D3-A2JA-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx f961ddcc-fb01-4ad1-974e-ccb2656a328e a6cc66c4-23a1-43c8-9989-be2c10aa4f63 g.chr3:37574877T>G uc003chd.3 + 13 1499 c.1446T>G c.(1444-1446)tgT>tgG p.C482W ITGA9_uc003chc.3_Missense_Mutation_p.C482W NM_002207 NP_002198 Q13797 ITA9_HUMAN Homo sapiens integrin, alpha 9 (ITGA9), mRNA. 482 axon guidance|cell adhesion|integrin-mediated signaling pathway integrin complex receptor activity breast(3)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(9)|lung(17)|pancreas(1)|prostate(2)|skin(6)|stomach(1)|urinary_tract(1) 44 KIRC - Kidney renal clear cell carcinoma(284;0.165)|Kidney(284;0.197) CGCCTCAGTGTCACGACGGAC 0.552000 30 17 0 0 0.006122 0 0 RAB6B 51560 broad.mit.edu 37 3 133558452 133558452 + Missense_Mutation SNP G A A TCGA-D3-A2JA-06A-11D-A196-08 TCGA-D3-A2JA-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx f961ddcc-fb01-4ad1-974e-ccb2656a328e a6cc66c4-23a1-43c8-9989-be2c10aa4f63 g.chr3:133558452G>A uc003epy.3 - 4 680 c.299C>T c.(298-300)tCc>tTc p.S100F RAB6B_uc011blu.1_Missense_Mutation_p.S87F NM_016577 NP_057661 Q9NRW1 RAB6B_HUMAN Homo sapiens RAB6B, member RAS oncogene family (RAB6B), mRNA. 100 protein transport|retrograde vesicle-mediated transport, Golgi to ER|small GTPase mediated signal transduction Golgi membrane|cytoplasmic membrane-bounded vesicle GTP binding|GTPase activity|protein binding NS(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(5)|pancreas(1) 11 CTGTTGGAAGGAGTTGAGATC 0.557000 46 25 0 0 0.004656 0 0 OR8K1 390157 broad.mit.edu 37 11 56113718 56113718 + Silent SNP C T T TCGA-D3-A2JA-06A-11D-A196-08 TCGA-D3-A2JA-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx f961ddcc-fb01-4ad1-974e-ccb2656a328e a6cc66c4-23a1-43c8-9989-be2c10aa4f63 g.chr11:56113718C>T uc010rjg.2 + 0 204 c.204C>T c.(202-204)ttC>ttT p.F68F NM_001002907 NP_001002907 Q8NGG5 OR8K1_HUMAN Homo sapiens olfactory receptor, family 8, subfamily K, member 1 (OR8K1), mRNA. 68 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity p.F68F(2) large_intestine(8)|liver(2)|lung(13)|ovary(1)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1) 33 Esophageal squamous(21;0.00448) TGTACTTTTTCCTTAGACATT 0.408000 HNSCC(65;0.19) 44 62 0 0 0.003610 0 0 ESPL1 9700 broad.mit.edu 37 12 53670519 53670519 + Missense_Mutation SNP A G G TCGA-D3-A2JA-06A-11D-A196-08 TCGA-D3-A2JA-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx f961ddcc-fb01-4ad1-974e-ccb2656a328e a6cc66c4-23a1-43c8-9989-be2c10aa4f63 g.chr12:53670519A>G uc001sck.2 + 7 1907 c.1816A>G c.(1816-1818)Atc>Gtc p.I606V ESPL1_uc001scj.2_Missense_Mutation_p.I281V|ESPL1_uc010soe.1_5'Flank NM_012291 NP_036423 Q14674 ESPL1_HUMAN Homo sapiens extra spindle pole bodies homolog 1 (S. cerevisiae) (ESPL1), mRNA. 606 apoptosis|cytokinesis|establishment of mitotic spindle localization|mitotic sister chromatid segregation|negative regulation of sister chromatid cohesion|positive regulation of mitotic metaphase/anaphase transition|proteolysis centrosome|nucleus cysteine-type peptidase activity|protein binding breast(1)|central_nervous_system(1)|endometrium(7)|kidney(10)|large_intestine(12)|lung(21)|ovary(2)|prostate(3)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(8) 70 ACGCTTCAACATCATCTGTGA 0.662000 54 7 0 0 0.001984 0 0 FRG1B 284802 broad.mit.edu 37 20 29625895 29625895 + Missense_Mutation SNP G A A rs76435412 by1000genomes TCGA-D3-A2JA-06A-11D-A196-08 TCGA-D3-A2JA-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx f961ddcc-fb01-4ad1-974e-ccb2656a328e a6cc66c4-23a1-43c8-9989-be2c10aa4f63 g.chr20:29625895G>A uc010ztl.1 + 1 81 c.49G>A c.(49-51)Gga>Aga p.G17R 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. endometrium(10)|kidney(21)|lung(3)|pancreas(1)|prostate(9)|urinary_tract(9) 53 ATCTGGCTATGGAAAATATCT 0.343000 58 7 0 0 0.008291 0 0 GYS1 2997 broad.mit.edu 37 19 49477978 49477978 + Missense_Mutation SNP G A A TCGA-D3-A2JA-06A-11D-A196-08 TCGA-D3-A2JA-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx f961ddcc-fb01-4ad1-974e-ccb2656a328e a6cc66c4-23a1-43c8-9989-be2c10aa4f63 g.chr19:49477978G>A uc002plp.3 - 10 1562 c.1321C>T c.(1321-1323)Ccc>Tcc p.P441S GYS1_uc010emm.3_Missense_Mutation_p.P377S|GYS1_uc010xzz.2_Missense_Mutation_p.P361S|GYS1_uc010yaa.1_Non-coding_Transcript|Mir_324_uc021uxe.1_5'Flank NM_002103 NP_002094 P13807 GYS1_HUMAN Homo sapiens glycogen synthase 1 (muscle) (GYS1), transcript variant 1, mRNA. 441 glucose metabolic process|glycogen biosynthetic process cytosol glycogen (starch) synthase activity|protein binding breast(1)|endometrium(4)|kidney(2)|large_intestine(3)|lung(5)|ovary(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 22 all_lung(116;4.89e-05)|Lung NSC(112;8.3e-05)|all_epithelial(76;8.64e-05)|all_neural(266;0.0506)|Ovarian(192;0.113) OV - Ovarian serous cystadenocarcinoma(262;0.000164)|all cancers(93;0.000226)|GBM - Glioblastoma multiforme(486;0.00561)|Epithelial(262;0.0286) CACACAGGGGGGAAAGACTGC 0.592000 57 11 0 0 0.003163 0 0 DST 667 broad.mit.edu 37 6 56327921 56327921 + Missense_Mutation SNP G A A TCGA-D3-A2JA-06A-11D-A196-08 TCGA-D3-A2JA-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx f961ddcc-fb01-4ad1-974e-ccb2656a328e a6cc66c4-23a1-43c8-9989-be2c10aa4f63 g.chr6:56327921G>A uc003pcy.4 - 81 15160 c.15052C>T c.(15052-15054)Cca>Tca p.P5018S DST_uc003pcv.4_Missense_Mutation_p.P140S|DST_uc003pcw.4_Missense_Mutation_p.P101S|DST_uc003pcx.4_Intron NM_015548 NP_056363 Q03001 DYST_HUMAN Homo sapiens dystonin (DST), transcript variant 1eA, mRNA. 7442 cell adhesion|cell cycle arrest|cell motility|hemidesmosome assembly|integrin-mediated signaling pathway|intermediate filament cytoskeleton organization|maintenance of cell polarity|microtubule cytoskeleton organization|response to wounding Z disc|actin cytoskeleton|axon|axon part|basement membrane|cell cortex|cell leading edge|cytoplasmic membrane-bounded vesicle|endoplasmic reticulum membrane|hemidesmosome|integral to membrane|intermediate filament|intermediate filament cytoskeleton|microtubule cytoskeleton|microtubule plus end|nuclear envelope|sarcomere actin binding|calcium ion binding|integrin binding|microtubule plus-end binding|protein C-terminus binding|protein binding|protein homodimerization activity NS(1)|breast(5)|central_nervous_system(8)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(22)|lung(43)|ovary(7)|prostate(1)|skin(4)|upper_aerodigestive_tract(3) 105 Lung NSC(77;0.103) LUSC - Lung squamous cell carcinoma(124;0.0485)|Lung(124;0.0956) GTCAACCATGGTTTACCATAA 0.418000 34 25 0 0 0.006320 0 0 FAM47C 442444 broad.mit.edu 37 X 37028775 37028775 + Silent SNP G A A TCGA-D3-A2JA-06A-11D-A196-08 TCGA-D3-A2JA-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx f961ddcc-fb01-4ad1-974e-ccb2656a328e a6cc66c4-23a1-43c8-9989-be2c10aa4f63 g.chrX:37028775G>A uc004ddl.2 + 0 2344 c.2292G>A c.(2290-2292)ccG>ccA p.P764P NM_001013736 NP_001013758 Q5HY64 FA47C_HUMAN Homo sapiens family with sequence similarity 47, member C (FAM47C), mRNA. 764 p.R763C(1) 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 ATCTCCGCCCGGAGCCTCCTG 0.622000 15 21 0 0 0.001523 0 0 NLRP8 126205 broad.mit.edu 37 19 56466504 56466504 + Missense_Mutation SNP G A A TCGA-D3-A2JA-06A-11D-A196-08 TCGA-D3-A2JA-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx f961ddcc-fb01-4ad1-974e-ccb2656a328e a6cc66c4-23a1-43c8-9989-be2c10aa4f63 g.chr19:56466504G>A uc002qmh.3 + 2 1151 c.1080G>A c.(1078-1080)atG>atA p.M360I NLRP8_uc010etg.3_Missense_Mutation_p.M360I NM_176811 NP_789781 Q86W28 NALP8_HUMAN Homo sapiens NLR family, pyrin domain containing 8 (NLRP8), mRNA. 360 NACHT. cytoplasm ATP binding breast(4)|central_nervous_system(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(14)|ovary(5)|skin(2)|stomach(3)|upper_aerodigestive_tract(2) 35 Colorectal(82;0.000147)|Ovarian(87;0.17) GBM - Glioblastoma multiforme(193;0.0695) TTAATACGATGGAAAAAATCA 0.458000 44 36 0 0 0.003755 0 0 ZNF12 7559 broad.mit.edu 37 7 6731272 6731272 + Missense_Mutation SNP T C C TCGA-D3-A2JA-06A-11D-A196-08 TCGA-D3-A2JA-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx f961ddcc-fb01-4ad1-974e-ccb2656a328e a6cc66c4-23a1-43c8-9989-be2c10aa4f63 g.chr7:6731272T>C uc003sqt.1 - 4 1855 c.1301A>G c.(1300-1302)gAg>gGg p.E434G ZNF12_uc011jxa.1_Missense_Mutation_p.E272G|ZNF12_uc003sqs.1_Missense_Mutation_p.E396G NM_016265 NP_057349 P17014 ZNF12_HUMAN Homo sapiens zinc finger protein 12 (ZNF12), transcript variant 1, mRNA. 434 negative regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding NS(2)|endometrium(1)|large_intestine(1)|lung(7)|prostate(2)|upper_aerodigestive_tract(3) 16 Ovarian(82;0.0776) UCEC - Uterine corpus endometrioid carcinoma (126;0.0231) ATACGGTTTCTCTCCTGTGTG 0.428000 26 20 0 0 0.007413 0 0 BRAF 673 broad.mit.edu 37 7 140453136 140453136 + Missense_Mutation SNP A T T rs121913377 TCGA-D3-A2JA-06A-11D-A196-08 TCGA-D3-A2JA-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx f961ddcc-fb01-4ad1-974e-ccb2656a328e a6cc66c4-23a1-43c8-9989-be2c10aa4f63 g.chr7:140453136A>T uc003vwc.4 - 14 1860 c.1799T>A c.(1798-1800)gTg>gAg p.V600E NM_004333 NP_004324 P15056 BRAF_HUMAN Homo sapiens v-raf murine sarcoma viral oncogene homolog B1 (BRAF), mRNA. 600 Protein kinase. V -> D (in a melanoma cell line; requires 2 nucleotide substitutions).|V -> E (in sarcoma, colorectal adenocarcinoma, metastatic melanoma, ovarian serous carcinoma, pilocytic astrocytoma; somatic mutation; most common mutation; constitutive and elevated kinase activity; efficiently induces cell transformation; suppression of mutation in melanoma causes growth arrest and promotes apoptosis). activation of MAPKK activity|anti-apoptosis|nerve growth factor receptor signaling pathway|organ morphogenesis|positive regulation of peptidyl-serine phosphorylation|small GTPase mediated signal transduction|synaptic transmission cytosol|nucleus|plasma membrane ATP binding|metal ion binding p.V600E(41204)|p.V600K(615)|p.V600?(377)|p.V600R(99)|p.V600D(40)|p.V600_K601>E(30)|p.V600L(28)|p.V600A(24)|p.V600G(22)|p.V600M(22)|p.A598_T599insV(7)|p.T599_V600insT(7)|p.T599I(5)|p.V600Q(4)|p.T599_R603>I(4)|p.T599_V600insTT(3)|p.T599_V600insDFGLAT(2)|p.T599_V600>IAL(2)|p.V600_S605>EK(2)|p.T599T(2)|p.V600_S605>DV(2)|p.V600_S605>D(2)|p.V600_W604del(1)|p.V600V(1)|p.T599_V600insV(1)|p.V600>DLAT(1)|p.D594_T599del(1) SLC45A3/BRAF(2)|AGTRAP/BRAF(2)|FAM131B_ENST00000443739/BRAF(7)|AKAP9_ENST00000356239/BRAF(10)|KIAA1549/BRAF(703)|FCHSD1/BRAF(2) NS(588)|adrenal_gland(3)|autonomic_ganglia(3)|biliary_tract(29)|bone(7)|breast(21)|central_nervous_system(99)|cervix(6)|endometrium(33)|eye(72)|gastrointestinal_tract_(site_indeterminate)(2)|genital_tract(4)|haematopoietic_and_lymphoid_tissue(436)|kidney(3)|large_intestine(6953)|liver(17)|lung(192)|oesophagus(4)|ovary(275)|pancreas(15)|pituitary(1)|prostate(25)|salivary_gland(1)|skin(6285)|small_intestine(12)|soft_tissue(40)|stomach(11)|testis(7)|thyroid(12220)|upper_aerodigestive_tract(13)|urinary_tract(3) 27380 Melanoma(164;0.00956) Sorafenib(DB00398) TCGAGATTTCACTGTAGCTAG 0.368000 V600D(K029AX_SKIN)|V600D(WM115_SKIN)|V600D(WM2664_SKIN)|V600E(8505C_THYROID)|V600E(A101D_SKIN)|V600E(A2058_SKIN)|V600E(A375_SKIN)|V600E(A673_BONE)|V600E(AM38_CENTRAL_NERVOUS_SYSTEM)|V600E(BCPAP_THYROID)|V600E(BHT101_THYROID)|V600E(BT474_BREAST)|V600E(C32_SKIN)|V600E(CL34_LARGE_INTESTINE)|V600E(COLO205_LARGE_INTESTINE)|V600E(COLO679_SKIN)|V600E(COLO741_SKIN)|V600E(COLO783_SKIN)|V600E(COLO800_SKIN)|V600E(COLO818_SKIN)|V600E(COLO829_SKIN)|V600E(COLO849_SKIN)|V600E(DBTRG05MG_CENTRAL_NERVOUS_SYSTEM)|V600E(DU4475_BREAST)|V600E(ES2_OVARY)|V600E(G361_SKIN)|V600E(GCT_SOFT_TISSUE)|V600E(HS294T_SKIN)|V600E(HS695T_SKIN)|V600E(HS939T_SKIN)|V600E(IGR1_SKIN)|V600E(IGR37_SKIN)|V600E(IGR39_SKIN)|V600E(K029AX_SKIN)|V600E(KG1C_CENTRAL_NERVOUS_SYSTEM)|V600E(LOXIMVI_SKIN)|V600E(MALME3M_SKIN)|V600E(MELHO_SKIN)|V600E(OUMS23_LARGE_INTESTINE)|V600E(RKO_LARGE_INTESTINE)|V600E(RPMI7951_SKIN)|V600E(RVH421_SKIN)|V600E(SH4_SKIN)|V600E(SIGM5_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|V600E(SKHEP1_LIVER)|V600E(SKMEL24_SKIN)|V600E(SKMEL28_SKIN)|V600E(SKMEL5_SKIN)|V600E(SW1417_LARGE_INTESTINE)|V600E(UACC257_SKIN)|V600E(UACC62_SKIN)|V600E(WM793_SKIN)|V600E(WM88_SKIN)|V600E(WM983B_SKIN) 61 """Mis, T, O""" """AKAP9, KIAA1549""" """melanoma, colorectal, papillary thyroid, borderline ov, Non small-cell lung cancer (NSCLC), cholangiocarcinoma, pilocytic astrocytoma""" Cardio-facio-cutaneous syndrome Cardiofaciocutaneous syndrome 54 30 0 0 0.008361 0 0 TMPRSS15 5651 broad.mit.edu 37 21 19775840 19775840 + Missense_Mutation SNP C T T TCGA-D3-A2JA-06A-11D-A196-08 TCGA-D3-A2JA-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx f961ddcc-fb01-4ad1-974e-ccb2656a328e a6cc66c4-23a1-43c8-9989-be2c10aa4f63 g.chr21:19775840C>T uc002ykw.3 - 0 131 c.100G>A c.(100-102)Gga>Aga p.G34R NM_002772 NP_002763 P98073 ENTK_HUMAN Homo sapiens transmembrane protease, serine 15 (TMPRSS15), mRNA. 34 proteolysis brush border|integral to membrane scavenger receptor activity|serine-type endopeptidase activity NS(1)|breast(2)|cervix(1)|endometrium(4)|kidney(7)|large_intestine(19)|lung(36)|ovary(6)|prostate(3)|skin(5)|upper_aerodigestive_tract(1) 85 GCAATTAATCCAGCACAGAGC 0.453000 55 18 0 0 0.007413 0 0 HNRNPA3P1 10151 broad.mit.edu 37 10 44285354 44285354 + Missense_Mutation SNP C T T TCGA-D3-A2JA-06A-11D-A196-08 TCGA-D3-A2JA-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx f961ddcc-fb01-4ad1-974e-ccb2656a328e a6cc66c4-23a1-43c8-9989-be2c10aa4f63 g.chr10:44285354C>T uc010qfe.1 - 0 512 c.482G>A c.(481-483)aGg>aAg p.R161K Homo sapiens heterogeneous nuclear ribonucleoprotein A3 pseudogene 1 (HNRNPA3P1), non-coding RNA. TCCACTCTGCCTGTCTTCCAT 0.328000 17 7 0 0 0.003080 0 0 SYNPO 11346 broad.mit.edu 37 5 150027788 150027788 + Missense_Mutation SNP C T T TCGA-D3-A2JA-06A-11D-A196-08 TCGA-D3-A2JA-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx f961ddcc-fb01-4ad1-974e-ccb2656a328e a6cc66c4-23a1-43c8-9989-be2c10aa4f63 g.chr5:150027788C>T uc003lsn.3 + 2 1057 c.683C>T c.(682-684)cCa>cTa p.P228L SYNPO_uc021yfu.1_Missense_Mutation_p.P228L|SYNPO_uc003lso.4_5'UTR|SYNPO_uc003lsp.3_5'UTR|SYNPO_uc021yfv.1_5'Flank NM_001166208 NP_001159681 Q8N3V7 SYNPO_HUMAN Homo sapiens synaptopodin (SYNPO), transcript variant 3, mRNA. 228 positive regulation of actin filament bundle assembly|regulation of stress fiber assembly actin cytoskeleton|cytoplasm|dendritic spine|perikaryon|postsynaptic density|postsynaptic membrane|tight junction actin binding|protein binding NS(1)|cervix(1)|endometrium(3)|large_intestine(6)|lung(4)|prostate(1)|urinary_tract(2) 18 Medulloblastoma(196;0.134)|all_hematologic(541;0.224) KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101) CCAGGCCCTCCACGGCACCCC 0.677000 16 5 0 0 0.000602 0 0 GRM2 2912 broad.mit.edu 37 3 51746528 51746528 + Missense_Mutation SNP A G G TCGA-D3-A2JA-06A-11D-A196-08 TCGA-D3-A2JA-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx f961ddcc-fb01-4ad1-974e-ccb2656a328e a6cc66c4-23a1-43c8-9989-be2c10aa4f63 g.chr3:51746528A>G uc010hlv.3 + 2 729 c.490A>G c.(490-492)Agc>Ggc p.S164G GRM2_uc003dbo.4_Intron|GRM2_uc010hlu.3_Non-coding_Transcript NM_000839 NP_000830 Q14416 GRM2_HUMAN Homo sapiens glutamate receptor, metabotropic 2 (GRM2), transcript variant 1, mRNA. 164 synaptic transmission integral to plasma membrane breast(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|liver(1)|lung(11)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1) 33 BRCA - Breast invasive adenocarcinoma(193;8.01e-05)|Kidney(197;0.000539)|KIRC - Kidney renal clear cell carcinoma(197;0.000716) Acamprosate(DB00659)|Nicotine(DB00184) CCCACAGATTAGCTACGCCTC 0.537000 72 44 0 0 0.003214 0 0 NOTCH3 4854 broad.mit.edu 37 19 15299856 15299856 + Missense_Mutation SNP C T T TCGA-D3-A2JA-06A-11D-A196-08 TCGA-D3-A2JA-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx f961ddcc-fb01-4ad1-974e-ccb2656a328e a6cc66c4-23a1-43c8-9989-be2c10aa4f63 g.chr19:15299856C>T uc002nan.3 - 7 1398 c.1322G>A c.(1321-1323)cGa>cAa p.R441Q NOTCH3_uc002nao.1_Missense_Mutation_p.R441Q NM_000435 NP_000426 Q9UM47 NOTC3_HUMAN Homo sapiens notch 3 (NOTCH3), mRNA. 441 EGF-like 11; calcium-binding (Potential). Notch receptor processing|Notch signaling pathway|regulation of transcription, DNA-dependent|transcription, DNA-dependent Golgi lumen|cytosol|endoplasmic reticulum lumen|extracellular region|integral to membrane|nucleoplasm|plasma membrane calcium ion binding|protein binding|receptor activity breast(4)|central_nervous_system(3)|endometrium(10)|kidney(3)|large_intestine(16)|liver(1)|lung(31)|ovary(8)|prostate(3)|skin(7)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(1) 93 OV - Ovarian serous cystadenocarcinoma(3;2.6e-20)|Epithelial(3;1.34e-16)|all cancers(3;5.13e-15) GGCCTGGTTTCGGCAGGGCCC 0.657000 19 5 0 0 0.000602 0 0 PCMTD2 55251 broad.mit.edu 37 20 62891364 62891364 + Missense_Mutation SNP G T T TCGA-D3-A2JA-06A-11D-A196-08 TCGA-D3-A2JA-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx f961ddcc-fb01-4ad1-974e-ccb2656a328e a6cc66c4-23a1-43c8-9989-be2c10aa4f63 g.chr20:62891364G>T uc002yil.4 + 1 246 c.46G>T c.(46-48)Gat>Tat p.D16Y PCMTD2_uc002yim.4_Missense_Mutation_p.D16Y NM_018257 NP_060727 Q9NV79 PCMD2_HUMAN Homo sapiens protein-L-isoaspartate (D-aspartate) O-methyltransferase domain containing 2 (PCMTD2), transcript variant 1, mRNA. 16 cytoplasm protein-L-isoaspartate (D-aspartate) O-methyltransferase activity breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|lung(9)|upper_aerodigestive_tract(1) 17 all_cancers(38;1.82e-11)|all_epithelial(29;3.3e-13)|Lung NSC(23;5.21e-10)|all_lung(23;1.92e-09) TGAGCTGATAGATAATTTGAA 0.378000 78 14 3.52763e-06 3.98465e-06 0.004990 1 0 ACSL1 2180 broad.mit.edu 37 4 185684408 185684408 + Splice_Site SNP G A A TCGA-D3-A2JA-06A-11D-A196-08 TCGA-D3-A2JA-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx f961ddcc-fb01-4ad1-974e-ccb2656a328e a6cc66c4-23a1-43c8-9989-be2c10aa4f63 g.chr4:185684408G>A uc003iww.2 - 16 1727 c.1433_splice c.e16-1 p.G478_splice ACSL1_uc011ckm.1_Splice_Site_p.G307_splice|ACSL1_uc003iwt.1_Splice_Site_p.G478_splice|ACSL1_uc003iwu.1_Splice_Site_p.G478_splice|ACSL1_uc011ckn.1_Splice_Site_p.G444_splice|ACSL1_uc003iws.1_Splice_Site_p.G48_splice NM_001995 NP_001986 P33121 ACSL1_HUMAN Homo sapiens acyl-CoA synthetase long-chain family member 1 (ACSL1), mRNA. 478 digestion|fatty acid metabolic process|long-chain fatty-acyl-CoA biosynthetic process|regulation of fatty acid oxidation|triglyceride biosynthetic process endoplasmic reticulum membrane|integral to membrane|microsome|mitochondrial outer membrane|peroxisomal membrane ATP binding|long-chain fatty acid-CoA ligase activity NS(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(6)|liver(1)|lung(17)|ovary(2)|prostate(1)|skin(2) 38 all_lung(41;7.57e-14)|Lung NSC(41;1.81e-13)|Colorectal(36;0.00172)|Hepatocellular(41;0.00826)|Renal(120;0.00988)|Prostate(90;0.0235)|all_hematologic(60;0.0315)|all_neural(102;0.107)|Medulloblastoma(177;0.146) all cancers(43;1.33e-28)|Epithelial(43;5.3e-25)|OV - Ovarian serous cystadenocarcinoma(60;4.88e-11)|Colorectal(24;3.59e-06)|STAD - Stomach adenocarcinoma(60;2.72e-05)|GBM - Glioblastoma multiforme(59;2.83e-05)|BRCA - Breast invasive adenocarcinoma(30;7.66e-05)|COAD - Colon adenocarcinoma(29;0.000538)|LUSC - Lung squamous cell carcinoma(40;0.008)|READ - Rectum adenocarcinoma(43;0.0419) Adenosine monophosphate(DB00131)|Adenosine triphosphate(DB00171) CCCCAACATGGCCTGTATATT 0.428000 25 8 0 0 0.006214 0 0 SEL1L2 80343 broad.mit.edu 37 20 13850804 13850804 + Missense_Mutation SNP C T T TCGA-D3-A2JA-06A-11D-A196-08 TCGA-D3-A2JA-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx f961ddcc-fb01-4ad1-974e-ccb2656a328e a6cc66c4-23a1-43c8-9989-be2c10aa4f63 g.chr20:13850804C>T uc010gcf.3 - 12 1232 c.1150G>A c.(1150-1152)Gga>Aga p.G384R SEL1L2_uc002woq.4_Missense_Mutation_p.G245R|SEL1L2_uc010zrl.2_Missense_Mutation_p.G384R|SEL1L2_uc002wor.3_Non-coding_Transcript NM_025229 NP_079505 Q5TEA6 SE1L2_HUMAN Homo sapiens sel-1 suppressor of lin-12-like 2 (C. elegans) (SEL1L2), mRNA. 384 integral to membrane binding cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(14)|lung(25)|ovary(2)|skin(3)|urinary_tract(1) 51 ACTCCTTTTCCATGAAAGTAA 0.333000 53 28 0 0 0.002445 0 0 NBPF1 55672 broad.mit.edu 37 1 16907915 16907915 + Splice_Site SNP C T T TCGA-D3-A2JA-06A-11D-A196-08 TCGA-D3-A2JA-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx f961ddcc-fb01-4ad1-974e-ccb2656a328e a6cc66c4-23a1-43c8-9989-be2c10aa4f63 g.chr1:16907915C>T uc009vos.1 - 15 2267 c.1379_splice c.e15+1 p.R460_splice NBPF1_uc009vot.1_Intron|NBPF1_uc001ayz.1_Intron|NBPF1_uc010oce.1_Splice_Site_p.R189_splice NM_017940 NP_060410 Q3BBV0 NBPF1_HUMAN Homo sapiens neuroblastoma breakpoint family, member 1 (NBPF1), mRNA. 460 NBPF 2. cytoplasm UCEC - Uterine corpus endometrioid carcinoma (279;0.00459)|BRCA - Breast invasive adenocarcinoma(304;7.52e-06)|COAD - Colon adenocarcinoma(227;1.05e-05)|Kidney(64;0.00016)|KIRC - Kidney renal clear cell carcinoma(64;0.00258)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.179) TCAGTGTTACCTGGGGGCAGA 0.438000 441 55 0 0 0.003610 0 0 C10orf113 387638 broad.mit.edu 37 10 21414812 21414812 + Silent SNP G A A TCGA-D3-A2JA-06A-11D-A196-08 TCGA-D3-A2JA-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx f961ddcc-fb01-4ad1-974e-ccb2656a328e a6cc66c4-23a1-43c8-9989-be2c10aa4f63 g.chr10:21414812G>A uc001iqm.3 - 1 459 c.408C>T c.(406-408)ttC>ttT p.F136F NEBL_uc001iqk.3_Intron|NEBL_uc021pnu.1_Intron|C10orf113_uc021pnv.1_3'UTR NM_001010896 NP_001010896 Q5VZT2 CJ113_HUMAN Homo sapiens chromosome 10 open reading frame 113 (C10orf113), transcript variant 1, mRNA. 136 endometrium(1)|large_intestine(1)|lung(1)|ovary(3)|pancreas(1) 7 TTATGCCCTGGAATTTAAATC 0.433000 59 19 0 0 0.008871 0 0 HNRNPA3P1 10151 broad.mit.edu 37 10 44285493 44285493 + Missense_Mutation SNP C T T TCGA-D3-A2JA-06A-11D-A196-08 TCGA-D3-A2JA-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx f961ddcc-fb01-4ad1-974e-ccb2656a328e a6cc66c4-23a1-43c8-9989-be2c10aa4f63 g.chr10:44285493C>T uc010qfe.1 - 0 373 c.343G>A c.(343-345)Gat>Aat p.D115N Homo sapiens heterogeneous nuclear ribonucleoprotein A3 pseudogene 1 (HNRNPA3P1), non-coding RNA. TTCACAGAATCCTCTCTAGAA 0.408000 25 8 0 0 0.003080 0 0 SMPDL3A 10924 broad.mit.edu 37 6 123118096 123118096 + Missense_Mutation SNP C T T TCGA-D3-A2JA-06A-11D-A196-08 TCGA-D3-A2JA-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx f961ddcc-fb01-4ad1-974e-ccb2656a328e a6cc66c4-23a1-43c8-9989-be2c10aa4f63 g.chr6:123118096C>T uc003pzg.3 + 2 975 c.454C>T c.(454-456)Cat>Tat p.H152Y SMPDL3A_uc003pzh.3_Missense_Mutation_p.H21Y NM_006714 NP_006705 Q92484 ASM3A_HUMAN Homo sapiens sphingomyelin phosphodiesterase, acid-like 3A (SMPDL3A), mRNA. 152 sphingomyelin catabolic process extracellular space hydrolase activity, acting on glycosyl bonds|protein binding|sphingomyelin phosphodiesterase activity breast(1)|cervix(1)|large_intestine(2)|lung(3)|ovary(1)|prostate(1)|urinary_tract(1) 10 GBM - Glioblastoma multiforme(226;0.236) GCTGGGTAATCATGACTATTG 0.368000 28 22 0 0 0.004656 0 0 PSMA1 5682 broad.mit.edu 37 11 14529245 14529245 + Missense_Mutation SNP G A A TCGA-D3-A2JA-06A-11D-A196-08 TCGA-D3-A2JA-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx f961ddcc-fb01-4ad1-974e-ccb2656a328e a6cc66c4-23a1-43c8-9989-be2c10aa4f63 g.chr11:14529245G>A uc001mll.3 - 9 1055 c.710C>T c.(709-711)cCa>cTa p.P237L PSMA1_uc010rcp.1_Non-coding_Transcript|PSMA1_uc001mlk.3_Missense_Mutation_p.P231L NM_148976 NP_683877 P25786 PSA1_HUMAN Homo sapiens proteasome (prosome, macropain) subunit, alpha type, 1 (PSMA1), transcript variant 1, mRNA. 231 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 cytoplasm|nucleus|polysome|proteasome core complex, alpha-subunit complex RNA binding|protein binding|threonine-type endopeptidase activity large_intestine(1)|skin(1)|upper_aerodigestive_tract(1) 3 TTCCAGGAATGGAGACACATC 0.363000 42 46 0 0 0.003610 0 0 RSPH6A 81492 broad.mit.edu 37 19 46307974 46307974 + Missense_Mutation SNP C T T TCGA-D3-A2JA-06A-11D-A196-08 TCGA-D3-A2JA-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx f961ddcc-fb01-4ad1-974e-ccb2656a328e a6cc66c4-23a1-43c8-9989-be2c10aa4f63 g.chr19:46307974C>T uc002pdm.3 - 2 1360 c.1189G>A c.(1189-1191)Gag>Aag p.E397K RSPH6A_uc002pdl.3_Missense_Mutation_p.E133K NM_030785 NP_110412 Q9H0K4 RSH6A_HUMAN Homo sapiens radial spoke head 6 homolog A (Chlamydomonas) (RSPH6A), mRNA. 397 Glu-rich. intracellular p.E396*(1) central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(6)|liver(1)|lung(14)|ovary(2)|prostate(1)|skin(1)|urinary_tract(2) 32 ACGGccttctcctcgtcctcc 0.647000 18 14 0 0 0.001855 0 0 MORC1 27136 broad.mit.edu 37 3 108688522 108688522 + Silent SNP G A A rs138551884 TCGA-D3-A2JA-06A-11D-A196-08 TCGA-D3-A2JA-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx f961ddcc-fb01-4ad1-974e-ccb2656a328e a6cc66c4-23a1-43c8-9989-be2c10aa4f63 g.chr3:108688522G>A uc003dxl.3 - 25 2685 c.2598C>T c.(2596-2598)ttC>ttT p.F866F MORC1_uc011bhn.2_Silent_p.F845F NM_014429 NP_055244 Q86VD1 MORC1_HUMAN Homo sapiens MORC family CW-type zinc finger 1 (MORC1), mRNA. 866 cell differentiation|multicellular organismal development|spermatogenesis nucleus ATP binding|zinc ion binding breast(7)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(14)|lung(47)|ovary(3)|prostate(6)|skin(12)|upper_aerodigestive_tract(3) 105 TTACCTGGTTGAAACACATTT 0.353000 41 25 0 0 0.008361 0 0 TBCE 6905 broad.mit.edu 37 1 235599136 235599136 + Silent SNP C T T TCGA-D3-A2JA-06A-11D-A196-08 TCGA-D3-A2JA-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx f961ddcc-fb01-4ad1-974e-ccb2656a328e a6cc66c4-23a1-43c8-9989-be2c10aa4f63 g.chr1:235599136C>T uc010pxr.1 + 9 1090 c.967C>T c.(967-969)Ctg>Ttg p.L323L TBCE_uc010pxq.1_Non-coding_Transcript|TBCE_uc001hwz.1_Silent_p.L272L|TBCE_uc001hxa.1_Silent_p.L272L|TBCE_uc001hxb.1_Silent_p.L159L NM_003193 NP_003184 Q15813 TBCE_HUMAN Homo sapiens tubulin folding cofactor E (TBCE), transcript variant 2, mRNA. 272 'de novo' posttranslational protein folding|post-chaperonin tubulin folding pathway cytoplasm|microtubule|nucleus|plasma membrane chaperone binding p.S323L(1) NS(1)|endometrium(2)|large_intestine(3)|lung(6)|prostate(1)|skin(1) 14 Ovarian(103;0.0634)|Breast(184;0.23) all_cancers(173;0.00192)|Prostate(94;0.0294)|all_epithelial(177;0.155)|Lung SC(1967;0.238) OV - Ovarian serous cystadenocarcinoma(106;2.56e-05) TCAGCTGTATCTGATAGCCCA 0.363000 64 38 0 0 0.006999 0 0 PDE1C 5137 broad.mit.edu 37 7 32109987 32109987 + Missense_Mutation SNP C T T TCGA-D3-A2JA-06A-11D-A196-08 TCGA-D3-A2JA-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx f961ddcc-fb01-4ad1-974e-ccb2656a328e a6cc66c4-23a1-43c8-9989-be2c10aa4f63 g.chr7:32109987C>T uc003tcm.2 - 0 480 c.19G>A c.(19-21)Gag>Aag p.E7K PDE1C_uc003tcn.1_Missense_Mutation_p.E7K|PDE1C_uc003tco.2_Intron|PDE1C_uc003tcr.3_Missense_Mutation_p.E7K|PDE1C_uc003tcs.3_Missense_Mutation_p.E7K NM_001191057 NP_001177988 Q14123 PDE1C_HUMAN Homo sapiens phosphodiesterase 1C, calmodulin-dependent 70kDa (PDE1C), transcript variant 2, mRNA. 7 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) TCTTCAATCTCCTTGGTTGGC 0.537000 85 38 0 0 0.004289 0 0 ATPBD4 89978 broad.mit.edu 37 15 35830567 35830567 + Missense_Mutation SNP T C C TCGA-D3-A2JA-06A-11D-A196-08 TCGA-D3-A2JA-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx f961ddcc-fb01-4ad1-974e-ccb2656a328e a6cc66c4-23a1-43c8-9989-be2c10aa4f63 g.chr15:35830567T>C uc001zja.3 - 2 282 c.220A>G c.(220-222)Ata>Gta p.I74V ATPBD4_uc001zjb.2_Missense_Mutation_p.I74V NM_080650 NP_542381 Q7L8W6 ATBD4_HUMAN Homo sapiens ATP binding domain 4 (ATPBD4), transcript variant 1, mRNA. 74 endometrium(1)|kidney(1)|lung(9) 11 all_epithelial(112;2.11e-09)|Lung NSC(122;2.38e-08)|all_lung(180;3.65e-07) all cancers(64;9.9e-19)|GBM - Glioblastoma multiforme(113;2.01e-06)|BRCA - Breast invasive adenocarcinoma(123;0.0252) CTTCCTCTTATGGTTCGGCGA 0.458000 91 28 0 0 0.004656 0 0 POTEF 728378 broad.mit.edu 37 2 130832375 130832375 + Missense_Mutation SNP C T T TCGA-D3-A2JA-06A-11D-A196-08 TCGA-D3-A2JA-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx f961ddcc-fb01-4ad1-974e-ccb2656a328e a6cc66c4-23a1-43c8-9989-be2c10aa4f63 g.chr2:130832375C>T uc010fmh.2 - 16 3070 c.2670G>A c.(2668-2670)atG>atA p.M890I NM_001099771 NP_001093241 A5A3E0 POTEF_HUMAN Homo sapiens POTE ankyrin domain family, member F (POTEF), mRNA. 890 Actin-like. cell cortex ATP binding breast(1)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(4)|lung(28)|ovary(3)|prostate(3)|skin(4)|upper_aerodigestive_tract(1) 53 TGAGGATCTTCATGAGGTAGT 0.592000 114 6 0 0 0.001168 0 0 TTN 7273 broad.mit.edu 37 2 179639101 179639101 + Missense_Mutation SNP C T T TCGA-D3-A2JA-06A-11D-A196-08 TCGA-D3-A2JA-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx f961ddcc-fb01-4ad1-974e-ccb2656a328e a6cc66c4-23a1-43c8-9989-be2c10aa4f63 g.chr2:179639101C>T uc021vsy.1 - 29 7115 c.6890G>A c.(6889-6891)gGa>gAa p.G2297E TTN_uc021vsz.1_Missense_Mutation_p.G2251E|TTN_uc021vta.1_Missense_Mutation_p.G2251E|TTN_uc021vtb.1_Missense_Mutation_p.G2251E|TTN_uc002unb.2_Missense_Mutation_p.G2297E|AK123298_uc002unc.1_5'Flank NM_133378 NP_596869 Q8WZ42 TITIN_HUMAN Homo sapiens titin (TTN), transcript variant N2-A, mRNA. 2297 Ig-like 12. 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) ATACCATTTTCCTTCTATATT 0.393000 73 32 0 0 0.001786 0 0 OR1B1 347169 broad.mit.edu 37 9 125391383 125391383 + Silent SNP G A A TCGA-D3-A2JA-06A-11D-A196-08 TCGA-D3-A2JA-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx f961ddcc-fb01-4ad1-974e-ccb2656a328e a6cc66c4-23a1-43c8-9989-be2c10aa4f63 g.chr9:125391383G>A uc011lyz.2 - 0 432 c.432C>T c.(430-432)gcC>gcT p.A144A NM_001004450 NP_001004450 Q8NGR6 OR1B1_HUMAN Homo sapiens olfactory receptor, family 1, subfamily B, member 1 (OR1B1), mRNA. 144 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 CTAGTAAGCAGGCACACCGTT 0.542000 14 14 0 0 0.006122 0 0 EGLN1 54583 broad.mit.edu 37 1 231557539 231557539 + Silent SNP G T T TCGA-D3-A2JA-06A-11D-A196-08 TCGA-D3-A2JA-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx f961ddcc-fb01-4ad1-974e-ccb2656a328e a6cc66c4-23a1-43c8-9989-be2c10aa4f63 g.chr1:231557539G>T uc001huv.2 - 0 3252 c.96C>A c.(94-96)cgC>cgA p.R32R EGLN1_uc001huu.3_5'Flank NM_022051 NP_071334 Q9GZT9 EGLN1_HUMAN Homo sapiens egl nine homolog 1 (C. elegans) (EGLN1), mRNA. 32 negative regulation of sequence-specific DNA binding transcription factor activity|oxygen homeostasis|response to hypoxia cytosol L-ascorbic acid binding|iron ion binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|peptidyl-proline dioxygenase activity|protein binding|zinc ion binding breast(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(1)|lung(4)|prostate(1)|urinary_tract(1) 16 Prostate(94;0.194)|Acute lymphoblastic leukemia(190;0.244) Vitamin C(DB00126) AGCGGCTGCAGCGCAGCAGGT 0.692000 8 10 4.68919e-08 5.32906e-08 0.008291 1 0 NLRP4 147945 broad.mit.edu 37 19 56370377 56370377 + Missense_Mutation SNP G A A TCGA-D3-A2JA-06A-11D-A196-08 TCGA-D3-A2JA-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx f961ddcc-fb01-4ad1-974e-ccb2656a328e a6cc66c4-23a1-43c8-9989-be2c10aa4f63 g.chr19:56370377G>A uc002qmd.4 + 2 2040 c.1618G>A c.(1618-1620)Gag>Aag p.E540K NLRP4_uc002qmf.3_Missense_Mutation_p.E465K|NLRP4_uc010etf.3_Missense_Mutation_p.E371K NM_134444 NP_604393 Q96MN2 NALP4_HUMAN Homo sapiens NLR family, pyrin domain containing 4 (NLRP4), mRNA. 540 ATP binding breast(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(14)|lung(3)|ovary(6)|pancreas(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(8) 42 Colorectal(82;0.0002)|Ovarian(87;0.221) GBM - Glioblastoma multiforme(193;0.0606) GAGCTTAGGGGAGCGTGGCAA 0.453000 58 11 0 0 0.001368 0 0 NFKBIZ 64332 broad.mit.edu 37 3 101574609 101574609 + Missense_Mutation SNP C T T TCGA-D3-A2JA-06A-11D-A196-08 TCGA-D3-A2JA-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx f961ddcc-fb01-4ad1-974e-ccb2656a328e a6cc66c4-23a1-43c8-9989-be2c10aa4f63 g.chr3:101574609C>T uc003dvp.3 + 8 1802 c.1687C>T c.(1687-1689)Cac>Tac p.H563Y NFKBIZ_uc003dvo.3_Missense_Mutation_p.H463Y|NFKBIZ_uc010hpo.3_Missense_Mutation_p.H463Y|NFKBIZ_uc003dvq.3_Missense_Mutation_p.H441Y NM_031419 NP_001005474 Q9BYH8 IKBZ_HUMAN Homo sapiens nuclear factor of kappa light polypeptide gene enhancer in B-cells inhibitor, zeta (NFKBIZ), transcript variant 1, mRNA. 563 Interaction with NFKB1/p50 (By similarity). regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus breast(1)|endometrium(3)|kidney(2)|large_intestine(4)|lung(8)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1) 24 AGTCATAGCCCACAATGCTGT 0.438000 68 11 0 0 0.001368 0 0 EPPK1 83481 broad.mit.edu 37 8 144945716 144945717 + Missense_Mutation DNP GG AA AA TCGA-D3-A2JA-06A-11D-A196-08 TCGA-D3-A2JA-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx f961ddcc-fb01-4ad1-974e-ccb2656a328e a6cc66c4-23a1-43c8-9989-be2c10aa4f63 g.chr8:144945716_144945717GG>AA uc003zaa.1 - 0 1718_1719 c.1705_1706CC>TT c.(1705-1707)cca>TTa p.P569L NM_031308 NP_112598 P58107 EPIPL_HUMAN Homo sapiens epiplakin 1 (EPPK1), mRNA. 569 cytoplasm|cytoskeleton protein binding|structural molecule activity NS(1)|autonomic_ganglia(1)|breast(1)|central_nervous_system(5)|cervix(1)|endometrium(8)|kidney(4)|large_intestine(2)|lung(30)|ovary(2)|pancreas(1)|prostate(10)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1) 71 all_cancers(97;1.42e-10)|all_epithelial(106;1.99e-09)|Lung NSC(106;0.000126)|all_lung(105;0.000354)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155) OV - Ovarian serous cystadenocarcinoma(54;2.46e-41)|Epithelial(56;2.88e-40)|all cancers(56;1.82e-35)|Colorectal(110;0.055)|BRCA - Breast invasive adenocarcinoma(115;0.105) CAGCTCTCCTGGTGTCACGGTG 0.644000 21 4 0 0 0.004672 0 0 PCDHAC2 56134 broad.mit.edu 37 5 140182108 140182108 + Silent SNP C T T TCGA-D3-A2JA-06A-11D-A196-08 TCGA-D3-A2JA-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx f961ddcc-fb01-4ad1-974e-ccb2656a328e a6cc66c4-23a1-43c8-9989-be2c10aa4f63 g.chr5:140182108C>T uc003lhf.2 + 0 1326 c.1326C>T c.(1324-1326)tcC>tcT p.S442S PCDHAC2_uc003lha.2_Intron|PCDHAC2_uc003lhb.2_Intron|PCDHAC2_uc003lhd.2_Intron|PCDHAC2_uc011czy.2_Intron|PCDHAC2_uc011czz.2_Silent_p.S442S NM_018906 NP_061729 Q9Y5I4 PCDC2_HUMAN Homo sapiens protocadherin alpha 3 (PCDHA3), transcript variant 1, mRNA. 456 Cadherin 4. 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) CCAGCGTGTCCGTGGAGGTGG 0.652000 84 23 0 0 0.002780 0 0 PLXNA3 55558 broad.mit.edu 37 X 153694361 153694361 + Silent SNP G A A TCGA-D3-A2JA-06A-11D-A196-08 TCGA-D3-A2JA-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx f961ddcc-fb01-4ad1-974e-ccb2656a328e a6cc66c4-23a1-43c8-9989-be2c10aa4f63 g.chrX:153694361G>A uc004flm.3 + 13 2789 c.2616G>A c.(2614-2616)gtG>gtA p.V872V NM_017514 NP_059984 P51805 PLXA3_HUMAN Homo sapiens plexin A3 (PLXNA3), mRNA. 872 IPT/TIG 1. axon guidance integral to membrane|intracellular|plasma membrane transmembrane receptor activity breast(2)|central_nervous_system(2)|cervix(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(26)|ovary(2)|prostate(1)|upper_aerodigestive_tract(4)|urinary_tract(1) 48 all_cancers(53;5.05e-16)|all_epithelial(53;1.87e-10)|all_lung(58;1.84e-07)|Lung NSC(58;5.84e-07)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176) CCCGAGAGGTGGGCCTGCGGG 0.662000 8 13 0 0 0.001855 0 0 TOP1 7150 broad.mit.edu 37 20 39750645 39750646 + Splice_Site DNP GG AA AA TCGA-D3-A2JA-06A-11D-A196-08 TCGA-D3-A2JA-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx f961ddcc-fb01-4ad1-974e-ccb2656a328e a6cc66c4-23a1-43c8-9989-be2c10aa4f63 g.chr20:39750645_39750646GG>AA uc002xjl.3 + 20 2292 c.2046_splice c.e20-1 p.K682_splice BC035080_uc002xjn.1_Intron NM_003286 NP_003277 P11387 TOP1_HUMAN Homo sapiens topoisomerase (DNA) I (TOP1), mRNA. 682 DNA topological change|interspecies interaction between organisms|phosphorylation|programmed cell death|response to drug chromosome|nucleolus|nucleoplasm ATP binding|DNA topoisomerase (ATP-hydrolyzing) activity|DNA topoisomerase type I activity|chromatin DNA binding|protein binding p.?(1) breast(5)|central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(8)|lung(11)|ovary(3)|prostate(1)|skin(2)|urinary_tract(1) 37 Myeloproliferative disorder(115;0.00878) Irinotecan(DB00762)|Lucanthone(DB04967)|Topotecan(DB01030) TATTCTTCTAGGGTAGTAGAGT 0.465000 T NUP98 AML* 54 47 0 0 0.004672 0 0 PRR23B 389151 broad.mit.edu 37 3 138739346 138739346 + Missense_Mutation SNP G A A TCGA-D3-A2JA-06A-11D-A196-08 TCGA-D3-A2JA-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx f961ddcc-fb01-4ad1-974e-ccb2656a328e a6cc66c4-23a1-43c8-9989-be2c10aa4f63 g.chr3:138739346G>A uc003esy.1 - 0 423 c.158C>T c.(157-159)gCc>gTc p.A53V NM_001013650 NP_001013672 Q6ZRT6 PR23B_HUMAN Homo sapiens proline rich 23B (PRR23B), mRNA. 53 NS(1)|breast(1)|central_nervous_system(1)|endometrium(3)|large_intestine(3)|lung(16)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 29 CGCGTCCACGGCCGGGTCCCC 0.751000 8 4 0 0 0.000602 0 0 PRSS35 167681 broad.mit.edu 37 6 84233463 84233463 + Silent SNP A G G TCGA-D3-A2JA-06A-11D-A196-08 TCGA-D3-A2JA-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx f961ddcc-fb01-4ad1-974e-ccb2656a328e a6cc66c4-23a1-43c8-9989-be2c10aa4f63 g.chr6:84233463A>G uc003pjz.3 + 1 543 c.303A>G c.(301-303)caA>caG p.Q101Q PRSS35_uc010kbm.3_Silent_p.Q101Q|PRSS35_uc021zce.1_Silent_p.Q101Q NM_153362 NP_699193 Q8N3Z0 PRS35_HUMAN Homo sapiens protease, serine, 35 (PRSS35), transcript variant 2, mRNA. 101 proteolysis extracellular region serine-type endopeptidase activity breast(2)|endometrium(2)|large_intestine(12)|lung(11)|ovary(2)|skin(2)|upper_aerodigestive_tract(1) 32 all_cancers(76;0.000113)|Acute lymphoblastic leukemia(125;1.09e-08)|all_hematologic(105;3.12e-05)|all_epithelial(107;0.0575) BRCA - Breast invasive adenocarcinoma(397;0.0768) TGAAAGTTCAAGATTTGGTTC 0.458000 30 39 0 0 0.004289 0 0 QSOX2 169714 broad.mit.edu 37 9 139100772 139100772 + Silent SNP G A A TCGA-D3-A2JA-06A-11D-A196-08 TCGA-D3-A2JA-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx f961ddcc-fb01-4ad1-974e-ccb2656a328e a6cc66c4-23a1-43c8-9989-be2c10aa4f63 g.chr9:139100772G>A uc010nbi.2 - 11 1937 c.1899C>T c.(1897-1899)ctC>ctT p.L633L NM_181701 NP_859052 Q6ZRP7 QSOX2_HUMAN Homo sapiens quiescin Q6 sulfhydryl oxidase 2 (QSOX2), mRNA. 633 cell redox homeostasis extracellular region|integral to membrane|nuclear membrane|plasma membrane thiol oxidase activity NS(1)|breast(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(10)|ovary(4)|prostate(1)|upper_aerodigestive_tract(1) 22 Myeloproliferative disorder(178;0.0511) Epithelial(140;7.78e-08)|OV - Ovarian serous cystadenocarcinoma(145;1.55e-07) CCAGACTCTGGAGTTTCCCGT 0.657000 29 29 0 0 0.008361 0 0 MTMR7 9108 broad.mit.edu 37 8 17206493 17206493 + Missense_Mutation SNP G A A TCGA-D3-A2JA-06A-11D-A196-08 TCGA-D3-A2JA-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx f961ddcc-fb01-4ad1-974e-ccb2656a328e a6cc66c4-23a1-43c8-9989-be2c10aa4f63 g.chr8:17206493G>A uc003wxm.3 - 4 805 c.566C>T c.(565-567)cCt>cTt p.P189L MTMR7_uc003wxn.3_5'UTR NM_004686 NP_004677 Q9Y216 MTMR7_HUMAN Homo sapiens myotubularin related protein 7 (MTMR7), mRNA. 189 Myotubularin phosphatase. protein tyrosine phosphatase activity breast(1)|endometrium(5)|kidney(2)|large_intestine(5)|liver(1)|lung(8)|prostate(3)|skin(5)|stomach(1)|upper_aerodigestive_tract(1) 32 Colorectal(111;0.112) AGAAAGGACAGGAAATCGCCG 0.428000 38 16 0 0 0.006122 0 0 TET1 80312 broad.mit.edu 37 10 70446317 70446317 + Missense_Mutation SNP C T T TCGA-D3-A2JA-06A-11D-A196-08 TCGA-D3-A2JA-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx f961ddcc-fb01-4ad1-974e-ccb2656a328e a6cc66c4-23a1-43c8-9989-be2c10aa4f63 g.chr10:70446317C>T uc001jok.4 + 10 5762 c.5257C>T c.(5257-5259)Cgt>Tgt p.R1753C NM_030625 NP_085128 Q8NFU7 TET1_HUMAN Homo sapiens tet methylcytosine dioxygenase 1 (TET1), mRNA. 1753 DNA demethylation|inner cell mass cell differentiation|negative regulation of methylation-dependent chromatin silencing|stem cell maintenance iron ion binding|methylcytosine dioxygenase activity|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|structure-specific DNA binding|zinc ion binding breast(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(9)|lung(2)|ovary(5)|prostate(1)|upper_aerodigestive_tract(2) 21 GCCTGTTCCCCGTTCTGGAAA 0.502000 46 16 0 0 0.008871 0 0 BIN1 274 broad.mit.edu 37 2 127808019 127808019 + Missense_Mutation SNP G A A TCGA-D3-A2JA-06A-11D-A196-08 TCGA-D3-A2JA-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx f961ddcc-fb01-4ad1-974e-ccb2656a328e a6cc66c4-23a1-43c8-9989-be2c10aa4f63 g.chr2:127808019G>A uc002tns.2 - 17 2036 c.1652C>T c.(1651-1653)cCc>cTc p.P551L BIN1_uc010yzf.2_Missense_Mutation_p.P343L|BIN1_uc002tnt.2_Missense_Mutation_p.P367L|BIN1_uc010yzg.2_Missense_Mutation_p.P428L|BIN1_uc002tnu.2_Missense_Mutation_p.P382L|BIN1_uc002tnv.2_Missense_Mutation_p.P508L|BIN1_uc002tnw.2_Missense_Mutation_p.P455L|BIN1_uc002tnx.2_Missense_Mutation_p.P412L|BIN1_uc002tny.2_Missense_Mutation_p.P464L|BIN1_uc002tnz.2_Missense_Mutation_p.P476L|BIN1_uc002toa.2_Missense_Mutation_p.P440L|BIN1_uc002tob.2_Missense_Mutation_p.P397L|BIN1_uc002toc.2_Missense_Mutation_p.P433L NM_139343 NP_647593 O00499 BIN1_HUMAN Homo sapiens bridging integrator 1 (BIN1), transcript variant 1, mRNA. 551 SH3. cell proliferation|endocytosis|interspecies interaction between organisms|multicellular organismal development actin cytoskeleton|nucleus NS(1)|breast(1)|central_nervous_system(2)|endometrium(2)|large_intestine(3)|lung(6)|ovary(3)|prostate(3)|skin(3) 24 Colorectal(110;0.0831) BRCA - Breast invasive adenocarcinoma(221;0.073) GTTCTGGAAGGGGATCACCAG 0.662000 OREG0014962 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 51 62 0 0 0.003610 0 0 RAB3GAP2 25782 broad.mit.edu 37 1 220332762 220332762 + Splice_Site SNP A T T TCGA-D3-A2JA-06A-11D-A196-08 TCGA-D3-A2JA-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx f961ddcc-fb01-4ad1-974e-ccb2656a328e a6cc66c4-23a1-43c8-9989-be2c10aa4f63 g.chr1:220332762A>T uc010puk.1 - 29 3390 c.3226_splice c.e29-1 p.V1076_splice RAB3GAP2_uc021pjf.1_Splice_Site_p.V1076_splice|RAB3GAP2_uc001hmf.2_Splice_Site|RAB3GAP2_uc001hmg.2_Splice_Site_p.V656_splice NM_012414 NP_036546 Q9H2M9 RBGPR_HUMAN Homo sapiens RAB3 GTPase activating protein subunit 2 (non-catalytic) (RAB3GAP2), mRNA. 1076 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) TGATTTTCCAACCTAAAATAA 0.269000 38 7 0 0 0.001984 0 0 MAP3K6 9064 broad.mit.edu 37 1 27685037 27685037 + Silent SNP G A A TCGA-D3-A2JA-06A-11D-A196-08 TCGA-D3-A2JA-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx f961ddcc-fb01-4ad1-974e-ccb2656a328e a6cc66c4-23a1-43c8-9989-be2c10aa4f63 g.chr1:27685037G>A uc001bny.1 - 19 2898 c.2649C>T c.(2647-2649)ctC>ctT p.L883L MAP3K6_uc009vsw.1_Silent_p.L875L|MAP3K6_uc001bnz.1_Silent_p.L406L NM_004672 NP_004663 O95382 M3K6_HUMAN Homo sapiens mitogen-activated protein kinase kinase kinase 6 (MAP3K6), mRNA. 883 Protein kinase. activation of JUN kinase activity ATP binding|MAP kinase kinase kinase activity|magnesium ion binding breast(4)|central_nervous_system(2)|lung(3)|ovary(1) 10 all_lung(284;1.6e-05)|Lung NSC(340;2.92e-05)|Colorectal(325;3.46e-05)|Renal(390;0.0007)|Breast(348;0.0021)|Ovarian(437;0.0175)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0381) UCEC - Uterine corpus endometrioid carcinoma (279;0.0416)|OV - Ovarian serous cystadenocarcinoma(117;1.69e-27)|Colorectal(126;1.24e-08)|COAD - Colon adenocarcinoma(152;1.7e-06)|BRCA - Breast invasive adenocarcinoma(304;0.00132)|KIRC - Kidney renal clear cell carcinoma(1967;0.00163)|STAD - Stomach adenocarcinoma(196;0.00303)|READ - Rectum adenocarcinoma(331;0.0419) AAGTTCGGAGGAGAAAGGCTT 0.637000 42 33 0 0 0.006230 0 0 ODZ3 55714 broad.mit.edu 37 4 183676186 183676186 + Missense_Mutation SNP G T T TCGA-D3-A2JA-06A-11D-A196-08 TCGA-D3-A2JA-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx f961ddcc-fb01-4ad1-974e-ccb2656a328e a6cc66c4-23a1-43c8-9989-be2c10aa4f63 g.chr4:183676186G>T uc003ivd.1 + 20 4741 c.4666G>T c.(4666-4668)Gtg>Ttg p.V1556L ODZ3_uc003ive.1_Missense_Mutation_p.V969L NM_001080477 NP_001073946 Q9P273 TEN3_HUMAN Homo sapiens odz, odd Oz/ten-m homolog 3 (Drosophila) (ODZ3), mRNA. 1556 signal transduction integral to membrane NS(1)|breast(3)|central_nervous_system(3)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(35)|lung(56)|pancreas(1)|prostate(4)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(4) 129 all_lung(41;2.69e-14)|Lung NSC(41;1.92e-11)|Melanoma(52;1.74e-05)|Colorectal(36;0.0062)|Breast(14;0.00748)|all_hematologic(60;0.0162)|Renal(120;0.0246)|Hepatocellular(41;0.0268)|Prostate(90;0.0283)|all_neural(102;0.155)|Medulloblastoma(177;0.184) all cancers(43;1.42e-24)|Epithelial(43;6.86e-23)|OV - Ovarian serous cystadenocarcinoma(60;2.16e-11)|Colorectal(24;9.75e-06)|STAD - Stomach adenocarcinoma(60;2.96e-05)|COAD - Colon adenocarcinoma(29;0.00103)|GBM - Glioblastoma multiforme(59;0.00462)|LUSC - Lung squamous cell carcinoma(40;0.0391)|READ - Rectum adenocarcinoma(43;0.0487) TATTACTGCTGTGACAGACAG 0.408000 32 9 7.48243e-07 8.48617e-07 0.006214 1 0 ELF5 2001 broad.mit.edu 37 11 34502418 34502418 + Missense_Mutation SNP C T T TCGA-D3-A2JA-06A-11D-A196-08 TCGA-D3-A2JA-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx f961ddcc-fb01-4ad1-974e-ccb2656a328e a6cc66c4-23a1-43c8-9989-be2c10aa4f63 g.chr11:34502418C>T uc001mvo.1 - 5 832 c.602G>A c.(601-603)gGa>gAa p.G201E ELF5_uc021qft.1_Missense_Mutation_p.G123E|ELF5_uc001mvp.2_Missense_Mutation_p.G191E|ELF5_uc009ykd.2_Missense_Mutation_p.G96E NM_198381 NP_001413 Q9UKW6 ELF5_HUMAN Homo sapiens E74-like factor 5 (ets domain transcription factor) (ELF5), transcript variant 1, mRNA. 201 cell proliferation|transcription from RNA polymerase II promoter nucleus sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity large_intestine(4)|skin(1) 5 Acute lymphoblastic leukemia(5;0.0087)|all_hematologic(20;0.0384) CCGAAAAATTCCTTGTTCCCT 0.443000 40 49 0 0 0.003610 0 0 FRMD4B 23150 broad.mit.edu 37 3 69230725 69230725 + Missense_Mutation SNP G A A TCGA-D3-A2JA-06A-11D-A196-08 TCGA-D3-A2JA-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx f961ddcc-fb01-4ad1-974e-ccb2656a328e a6cc66c4-23a1-43c8-9989-be2c10aa4f63 g.chr3:69230725G>A uc003dnv.2 - 20 2466 c.2176C>T c.(2176-2178)Ctc>Ttc p.L726F FRMD4B_uc003dnw.2_Intron|FRMD4B_uc003dnu.2_Missense_Mutation_p.L378F|FRMD4B_uc011bga.1_Missense_Mutation_p.L570F NM_015123 NP_055938 Q9Y2L6 FRM4B_HUMAN Homo sapiens FERM domain containing 4B (FRMD4B), mRNA. 726 cytoplasm|cytoskeleton binding NS(2)|central_nervous_system(2)|endometrium(1)|kidney(2)|large_intestine(3)|lung(1)|ovary(3)|prostate(3)|skin(2) 19 Lung NSC(201;0.0138)|Prostate(884;0.11) BRCA - Breast invasive adenocarcinoma(55;0.000201)|Epithelial(33;0.00141)|LUSC - Lung squamous cell carcinoma(21;0.00999)|Lung(16;0.0182) CCGTCATCGAGGATTTCTGTG 0.522000 76 37 0 0 0.004878 0 0 SLC34A2 10568 broad.mit.edu 37 4 25673285 25673285 + Silent SNP G A A TCGA-D3-A2JA-06A-11D-A196-08 TCGA-D3-A2JA-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx f961ddcc-fb01-4ad1-974e-ccb2656a328e a6cc66c4-23a1-43c8-9989-be2c10aa4f63 g.chr4:25673285G>A uc003grr.3 + 8 1071 c.990G>A c.(988-990)acG>acA p.T330T SLC34A2_uc003grs.3_Silent_p.T329T|SLC34A2_uc010iev.3_Silent_p.T329T NM_006424 NP_006415 O95436 NPT2B_HUMAN Homo sapiens solute carrier family 34 (sodium phosphate), member 2 (SLC34A2), transcript variant 1, mRNA. 330 T -> V (in Ref. 6; BAC11354). cellular phosphate ion homeostasis apical plasma membrane|brush border membrane|integral to plasma membrane phosphate binding|sodium ion binding|sodium-dependent phosphate transmembrane transporter activity|sodium:phosphate symporter activity p.T330T(2) SLC34A2/ROS1(14) breast(1)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(9)|lung(18)|ovary(1)|prostate(1)|skin(4) 41 Breast(46;0.0503) TCTGTTGGACGGATGGCATCC 0.502000 T ROS1 NSCLC 128 64 0 0 0.003610 0 0 NBR1 4077 broad.mit.edu 37 17 41345540 41345540 + Missense_Mutation SNP C T T TCGA-D3-A2JA-06A-11D-A196-08 TCGA-D3-A2JA-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx f961ddcc-fb01-4ad1-974e-ccb2656a328e a6cc66c4-23a1-43c8-9989-be2c10aa4f63 g.chr17:41345540C>T uc010whv.2 + 11 1492 c.1409C>T c.(1408-1410)cCt>cTt p.P470L NBR1_uc010czd.3_Missense_Mutation_p.P470L|NBR1_uc010diz.3_Missense_Mutation_p.P470L|NBR1_uc010whu.2_Missense_Mutation_p.P470L|NBR1_uc010whw.2_Missense_Mutation_p.P449L|NBR1_uc010whx.1_Missense_Mutation_p.P279L NM_005899 NP_114068 Q14596 NBR1_HUMAN Homo sapiens neighbor of BRCA1 gene 1 (NBR1), transcript variant 1, mRNA. 470 macroautophagy|protein oligomerization autophagic vacuole|cytoplasmic vesicle|cytosol|late endosome|lysosome|sarcomere ubiquitin binding|zinc ion binding NS(1)|breast(1)|cervix(1)|kidney(4)|large_intestine(1)|lung(7)|skin(2)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(3) 24 Breast(137;0.00086) BRCA - Breast invasive adenocarcinoma(366;0.0934) CAATTTGGGCCTCGGGTCTGG 0.502000 9 14 0 0 0.003163 0 0 PRRC2A 7916 broad.mit.edu 37 6 31593915 31593915 + Nonsense_Mutation SNP C T T TCGA-D3-A2JA-06A-11D-A196-08 TCGA-D3-A2JA-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx f961ddcc-fb01-4ad1-974e-ccb2656a328e a6cc66c4-23a1-43c8-9989-be2c10aa4f63 g.chr6:31593915C>T uc003nvb.4 + 8 1207 c.958C>T c.(958-960)Cag>Tag p.Q320* PRRC2A_uc011dnv.1_Non-coding_Transcript|PRRC2A_uc003nvc.4_Nonsense_Mutation_p.Q320*|PRRC2A_uc003nve.3_3'UTR NM_080686 NP_542417 P48634 PRC2A_HUMAN Homo sapiens proline-rich coiled-coil 2A (PRRC2A), transcript variant 1, mRNA. 320 4 X 57 AA type A repeats. cytoplasm|nucleus protein binding breast(6)|central_nervous_system(1)|endometrium(7)|kidney(5)|large_intestine(14)|lung(19)|ovary(3)|pancreas(2)|prostate(4)|skin(5)|soft_tissue(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 70 TCAGTTGGATCAGGAGAATGA 0.453000 21 17 0 0 0.006122 0 0 PRAMEF1 65121 broad.mit.edu 37 1 12854129 12854129 + Missense_Mutation SNP G A A TCGA-D3-A2JA-06A-11D-A196-08 TCGA-D3-A2JA-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx f961ddcc-fb01-4ad1-974e-ccb2656a328e a6cc66c4-23a1-43c8-9989-be2c10aa4f63 g.chr1:12854129G>A uc001auj.2 + 2 456 c.353G>A c.(352-354)gGa>gAa p.G118E NM_023013 NP_075389 O95521 PRAM1_HUMAN Homo sapiens PRAME family member 1 (PRAMEF1), mRNA. 118 cervix(1)|endometrium(2)|kidney(3)|large_intestine(6)|lung(14)|ovary(1)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(1) 35 Ovarian(185;0.249) Renal(390;0.000469)|Lung NSC(185;0.00143)|all_lung(284;0.00181)|Colorectal(325;0.00215)|Breast(348;0.0042)|Myeloproliferative disorder(586;0.0393)|Hepatocellular(190;0.0623)|Ovarian(437;0.0731) UCEC - Uterine corpus endometrioid carcinoma (279;0.00812)|Colorectal(212;4.88e-06)|Kidney(185;4.89e-05)|KIRC - Kidney renal clear cell carcinoma(229;0.000194)|COAD - Colon adenocarcinoma(227;0.000241)|BRCA - Breast invasive adenocarcinoma(304;0.000293)|STAD - Stomach adenocarcinoma(313;0.0072)|READ - Rectum adenocarcinoma(331;0.0649) AGATGGCCTGGAGCCTGGGCC 0.532000 375 12 0 0 0.003610 0 0 YARS2 51067 broad.mit.edu 37 12 32900275 32900275 + Missense_Mutation SNP C T T TCGA-D3-A2JA-06A-11D-A196-08 TCGA-D3-A2JA-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx f961ddcc-fb01-4ad1-974e-ccb2656a328e a6cc66c4-23a1-43c8-9989-be2c10aa4f63 g.chr12:32900275C>T uc001rli.3 - 4 1376 c.1297G>A c.(1297-1299)Gga>Aga p.G433R NM_001040436 NP_001035526 Q9Y2Z4 SYYM_HUMAN Homo sapiens tyrosyl-tRNA synthetase 2, mitochondrial (YARS2), nuclear gene encoding mitochondrial protein, mRNA. 433 tyrosyl-tRNA aminoacylation mitochondrial matrix ATP binding|RNA binding|protein binding|tyrosine-tRNA ligase activity p.G433A(1) endometrium(1)|large_intestine(4)|lung(9)|prostate(1)|upper_aerodigestive_tract(1) 16 Lung NSC(5;2.43e-07)|Acute lymphoblastic leukemia(23;0.0122)|all_hematologic(23;0.0429)|Esophageal squamous(101;0.239) L-Tyrosine(DB00135) ATGCTGACTCCGCCTTCTGTT 0.348000 49 21 0 0 0.003954 0 0 JAM2 58494 broad.mit.edu 37 21 27062285 27062285 + Splice_Site SNP G A A TCGA-D3-A2JA-06A-11D-A196-08 TCGA-D3-A2JA-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx f961ddcc-fb01-4ad1-974e-ccb2656a328e a6cc66c4-23a1-43c8-9989-be2c10aa4f63 g.chr21:27062285G>A uc002ylp.1 + 3 786 c.241_splice c.e3+1 p.G81_splice JAM2_uc011ace.1_Splice_Site_p.G81_splice|JAM2_uc002ylq.1_Splice_Site|JAM2_uc011acf.1_Intron NM_021219 NP_067042 P57087 JAM2_HUMAN Homo sapiens junctional adhesion molecule 2 (JAM2), mRNA. 81 Ig-like V-type. blood coagulation|cell-cell adhesion|leukocyte migration integral to plasma membrane|tight junction endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(12)|prostate(1)|stomach(1)|urinary_tract(1) 19 GACTCTTCAAGGTAAGCAGCT 0.443000 75 24 0 0 0.003330 0 0 KIF6 221458 broad.mit.edu 37 6 39512353 39512353 + Silent SNP C T T TCGA-D3-A2JA-06A-11D-A196-08 TCGA-D3-A2JA-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx f961ddcc-fb01-4ad1-974e-ccb2656a328e a6cc66c4-23a1-43c8-9989-be2c10aa4f63 g.chr6:39512353C>T uc003oot.2 - 11 1499 c.1404G>A c.(1402-1404)ctG>ctA p.L468L KIF6_uc010jxa.1_Silent_p.L259L|KIF6_uc011dua.1_Silent_p.L468L|KIF6_uc010jxb.1_Silent_p.L468L NM_145027 NP_659464 Q6ZMV9 KIF6_HUMAN Homo sapiens kinesin family member 6 (KIF6), mRNA. 468 microtubule-based movement cytoplasm|microtubule ATP binding|microtubule motor activity|protein binding breast(2)|central_nervous_system(1)|endometrium(1)|kidney(16)|large_intestine(8)|lung(15)|ovary(1)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 52 CTCTCTGTTTCAGAATATCTC 0.378000 24 18 0 0 0.007413 0 0 PRRX1 5396 broad.mit.edu 37 1 170695431 170695431 + Missense_Mutation SNP C T T TCGA-D3-A2JA-06A-11D-A196-08 TCGA-D3-A2JA-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx f961ddcc-fb01-4ad1-974e-ccb2656a328e a6cc66c4-23a1-43c8-9989-be2c10aa4f63 g.chr1:170695431C>T uc001ghf.3 + 2 535 c.488C>T c.(487-489)tCc>tTc p.S163F PRRX1_uc001ghe.3_Missense_Mutation_p.S163F NM_022716 NP_073207 P54821 PRRX1_HUMAN Homo sapiens paired related homeobox 1 (PRRX1), transcript variant pmx-1b, mRNA. 163 nucleus sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription coactivator activity large_intestine(2)|ovary(1) 3 all_hematologic(923;0.0922)|Acute lymphoblastic leukemia(37;0.181) AAAAACGCTTCCCTCCTCAAA 0.547000 23 19 0 0 0.008871 0 0 KCNT2 343450 broad.mit.edu 37 1 196577427 196577427 + Missense_Mutation SNP C T T TCGA-D3-A2JA-06A-11D-A196-08 TCGA-D3-A2JA-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx f961ddcc-fb01-4ad1-974e-ccb2656a328e a6cc66c4-23a1-43c8-9989-be2c10aa4f63 g.chr1:196577427C>T uc001gtd.1 - 0 73 c.13G>A c.(13-15)Gag>Aag p.E5K KCNT2_uc001gte.1_Missense_Mutation_p.E5K|KCNT2_uc001gtf.1_Missense_Mutation_p.E5K|KCNT2_uc001gtg.1_Non-coding_Transcript|KCNT2_uc009wyu.3_Missense_Mutation_p.E5K|KCNT2_uc009wyv.1_Missense_Mutation_p.E5K NM_198503 NP_940905 Q6UVM3 KCNT2_HUMAN Homo sapiens potassium channel, subfamily T, member 2 (KCNT2), mRNA. 5 voltage-gated potassium channel complex ATP binding|calcium-activated potassium channel activity|voltage-gated potassium channel activity NS(1)|breast(4)|endometrium(5)|haematopoietic_and_lymphoid_tissue(4)|kidney(3)|large_intestine(16)|lung(43)|ovary(5)|pancreas(1)|prostate(1)|skin(11)|stomach(2)|upper_aerodigestive_tract(1) 97 ACTTCGCTCTCCAAATCAACC 0.512000 59 17 0 0 0.006122 0 0 RAD17 5884 broad.mit.edu 37 5 68695977 68695977 + Silent SNP C T T TCGA-D3-A2JA-06A-11D-A196-08 TCGA-D3-A2JA-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx f961ddcc-fb01-4ad1-974e-ccb2656a328e a6cc66c4-23a1-43c8-9989-be2c10aa4f63 g.chr5:68695977C>T uc003jwo.3 + 13 1769 c.1707C>T c.(1705-1707)acC>acT p.T569T RAD17_uc003jwg.3_Silent_p.T558T|RAD17_uc003jwi.3_Silent_p.T558T|RAD17_uc003jwh.3_Silent_p.T558T|RAD17_uc003jwj.3_Silent_p.T558T|RAD17_uc003jwk.3_Silent_p.T558T|RAD17_uc003jwl.3_Silent_p.T558T|RAD17_uc003jwm.3_Silent_p.T393T|RAD17_uc003jwn.3_Silent_p.T472T NM_133339 NP_579917 O75943 RAD17_HUMAN Homo sapiens RAD17 homolog (S. pombe) (RAD17), transcript variant 2, mRNA. 569 Interaction with MCM7. DNA damage checkpoint|DNA repair|DNA replication|DNA replication checkpoint|cell cycle|mitotic cell cycle checkpoint|negative regulation of DNA replication|regulation of phosphorylation nucleoplasm ATP binding|nucleoside-triphosphatase activity|protein binding Lung NSC(167;5.19e-05)|Prostate(74;0.0143)|Ovarian(174;0.0448)|Breast(144;0.198) OV - Ovarian serous cystadenocarcinoma(47;9.36e-57)|Epithelial(20;1.21e-52)|all cancers(19;3.34e-48)|Lung(70;0.0183) CTCTACTAACCATTCCAATGA 0.353000 Other conserved DNA damage response genes 25 7 0 0 0.004482 0 0 ZNF596 169270 broad.mit.edu 37 8 195641 195641 + Missense_Mutation SNP A G G TCGA-D3-A2JA-06A-11D-A196-08 TCGA-D3-A2JA-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx f961ddcc-fb01-4ad1-974e-ccb2656a328e a6cc66c4-23a1-43c8-9989-be2c10aa4f63 g.chr8:195641A>G uc003wot.3 + 5 1082 c.794A>G c.(793-795)aAc>aGc p.N265S ZNF596_uc003wou.3_Missense_Mutation_p.N164S|ZNF596_uc003wov.3_Missense_Mutation_p.N265S|ZNF596_uc003wow.3_Missense_Mutation_p.N265S NM_173539 NP_775810 Q8TC21 ZN596_HUMAN Homo sapiens zinc finger protein 596 (ZNF596), transcript variant 3, mRNA. 265 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding autonomic_ganglia(1)|endometrium(2)|large_intestine(6)|lung(5) 14 all_cancers(2;4.81e-29)|all_epithelial(2;5.03e-19)|Lung NSC(2;8.68e-08)|all_lung(2;1.52e-07)|Ovarian(12;0.00965)|Colorectal(14;0.0367)|all_neural(12;0.0837)|Myeloproliferative disorder(644;0.116)|all_hematologic(2;0.138)|Acute lymphoblastic leukemia(644;0.242) Epithelial(5;3.77e-18)|all cancers(2;5.2e-17)|OV - Ovarian serous cystadenocarcinoma(5;5.37e-09)|BRCA - Breast invasive adenocarcinoma(11;1.7e-06)|Colorectal(2;6.51e-05)|READ - Rectum adenocarcinoma(2;0.0276)|COAD - Colon adenocarcinoma(149;0.0702) AAAAGTTCTAACCTTAGACGA 0.408000 19 8 0 0 0.004482 0 0 SEC16A 9919 broad.mit.edu 37 9 139370482 139370482 + Missense_Mutation SNP C T T TCGA-D3-A2JA-06A-11D-A196-08 TCGA-D3-A2JA-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx f961ddcc-fb01-4ad1-974e-ccb2656a328e a6cc66c4-23a1-43c8-9989-be2c10aa4f63 g.chr9:139370482C>T uc004chx.3 - 2 1895 c.1586G>A c.(1585-1587)aGc>aAc p.S529N SEC16A_uc004chv.4_Missense_Mutation_p.S156N|SEC16A_uc004chw.3_Missense_Mutation_p.S529N|SEC16A_uc010nbn.3_Missense_Mutation_p.S529N|SEC16A_uc010nbo.1_Missense_Mutation_p.S529N NM_014866 NP_055681 O15027 SC16A_HUMAN Homo sapiens SEC16 homolog A (S. cerevisiae) (SEC16A), mRNA. 351 protein transport|vesicle-mediated transport Golgi membrane|endoplasmic reticulum membrane breast(1)|central_nervous_system(3)|endometrium(7)|kidney(5)|large_intestine(15)|lung(14)|ovary(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 51 Myeloproliferative disorder(178;0.0511) Epithelial(140;2.9e-06)|OV - Ovarian serous cystadenocarcinoma(145;5.88e-06) CCTTCCGTGGCTTCTGCTGCT 0.572000 21 21 0 0 0.004656 0 0 AX747417 0 broad.mit.edu 37 3 95374249 95374249 + RNA SNP A T T TCGA-D3-A2JA-06A-11D-A196-08 TCGA-D3-A2JA-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx f961ddcc-fb01-4ad1-974e-ccb2656a328e a6cc66c4-23a1-43c8-9989-be2c10aa4f63 g.chr3:95374249A>T uc003dro.1 - 4 c.1613T>A Homo sapiens cDNA FLJ34909 fis, clone NT2RI2009301, moderately similar to BIFUNCTIONAL METHYLENETETRAHYDROFOLATE DEHYDROGENASE/CYCLOHYDROLASE, MITOCHONDRIAL PRECURSOR. GCATTCCAACAATTTTTGACC 0.468000 16 17 0 0 0.004990 0 0 XIST 7503 broad.mit.edu 37 X 73066030 73066030 + RNA SNP C T T TCGA-D3-A2JA-06A-11D-A196-08 TCGA-D3-A2JA-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx f961ddcc-fb01-4ad1-974e-ccb2656a328e a6cc66c4-23a1-43c8-9989-be2c10aa4f63 g.chrX:73066030C>T uc004ebm.1 - 0 c.6559G>A Homo sapiens X (inactive)-specific transcript (non-protein coding) (XIST), non-coding RNA. GAAAAAGGGCCTTGGTGATCA 0.493000 27 27 0 0 0.008361 0 0 CACNA2D2 9254 broad.mit.edu 37 3 50403276 50403276 + Silent SNP G A A TCGA-D3-A2JA-06A-11D-A196-08 TCGA-D3-A2JA-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx f961ddcc-fb01-4ad1-974e-ccb2656a328e a6cc66c4-23a1-43c8-9989-be2c10aa4f63 g.chr3:50403276G>A uc003daq.3 - 33 2939 c.2901C>T c.(2899-2901)ttC>ttT p.F967F CACNA2D2_uc003dap.3_Silent_p.F960F NM_001174051 NP_001167522 Q9NY47 CA2D2_HUMAN Homo sapiens calcium channel, voltage-dependent, alpha 2/delta subunit 2 (CACNA2D2), transcript variant 3, mRNA. 967 energy reserve metabolic process|regulation of insulin secretion integral to membrane|plasma membrane calcium channel activity|metal ion binding|voltage-gated ion channel activity breast(3)|cervix(1)|endometrium(4)|large_intestine(4)|lung(8)|ovary(2)|prostate(4)|skin(4)|urinary_tract(1) 31 BRCA - Breast invasive adenocarcinoma(193;0.000365)|KIRC - Kidney renal clear cell carcinoma(197;0.00862)|Kidney(197;0.01) Gabapentin(DB00996) CCAGGTTAAGGAAATCTGCAA 0.622000 35 8 0 0 0.008291 0 0 LRRC37A2 474170 broad.mit.edu 37 17 45127325 45127325 + Missense_Mutation SNP C T T TCGA-D3-A2JA-06A-11D-A196-08 TCGA-D3-A2JA-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx f961ddcc-fb01-4ad1-974e-ccb2656a328e a6cc66c4-23a1-43c8-9989-be2c10aa4f63 g.chr17:45127325C>T uc010wkj.1 + 1 877 c.523C>T c.(523-525)Cgc>Tgc p.R175C ARL17_uc021tzb.1_Intron|DQ597730_uc010wkl.2_Non-coding_Transcript A6NM11 L37A2_HUMAN Homo sapiens cDNA FLJ42521 fis, clone BRACE3000973. 1311 integral to membrane endometrium(2)|kidney(1)|large_intestine(1)|lung(5)|pancreas(4)|prostate(2) 15 Melanoma(429;0.211) BRCA - Breast invasive adenocarcinoma(366;0.232) TCACAAAACTCGCTCCCGCAT 0.408000 394 82 0 0 0.003610 0 0 GRIN2C 2905 broad.mit.edu 37 17 72850838 72850838 + Missense_Mutation SNP G A A TCGA-D3-A2JA-06A-11D-A196-08 TCGA-D3-A2JA-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx f961ddcc-fb01-4ad1-974e-ccb2656a328e a6cc66c4-23a1-43c8-9989-be2c10aa4f63 g.chr17:72850838G>A uc002jlt.1 - 1 550 c.394C>T c.(394-396)Ccc>Tcc p.P132S GRIN2C_uc010wrh.1_Non-coding_Transcript|GRIN2C_uc002jlu.1_Missense_Mutation_p.P132S|GRIN2C_uc002jlv.1_Missense_Mutation_p.P132S NM_000835 NP_000826 Q14957 NMDE3_HUMAN Homo sapiens glutamate receptor, ionotropic, N-methyl D-aspartate 2C (GRIN2C), mRNA. 132 glutamate signaling pathway cell junction|outer membrane-bounded periplasmic space|postsynaptic membrane N-methyl-D-aspartate selective glutamate receptor activity|extracellular-glutamate-gated ion channel activity NS(1)|breast(3)|central_nervous_system(1)|endometrium(2)|large_intestine(6)|lung(15)|ovary(2)|skin(2)|urinary_tract(1) 33 all_lung(278;0.172)|Lung NSC(278;0.207) Glycine(DB00145)|L-Glutamic Acid(DB00142)|Loperamide(DB00836) TGCACCTTGGGGGTGAGGACC 0.622000 27 5 0 0 0.001168 0 0 SALL1 6299 broad.mit.edu 37 16 51173898 51173898 + Silent SNP C T T TCGA-D3-A2JA-06A-11D-A196-08 TCGA-D3-A2JA-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx f961ddcc-fb01-4ad1-974e-ccb2656a328e a6cc66c4-23a1-43c8-9989-be2c10aa4f63 g.chr16:51173898C>T uc021tif.1 - 1 2266 c.1944G>A c.(1942-1944)acG>acA p.T648T SALL1_uc021tid.1_Silent_p.T648T|SALL1_uc021tie.1_Silent_p.T745T|SALL1_uc010cbv.3_Intron NM_001127892 NP_001121364 Q9NSC2 SALL1_HUMAN Homo sapiens sal-like 1 (Drosophila) (SALL1), transcript variant 2, mRNA. 745 adrenal gland development|branching involved in ureteric bud morphogenesis|embryonic digestive tract development|embryonic digit morphogenesis|gonad development|histone deacetylation|inductive cell-cell signaling|mesenchymal to epithelial transition involved in metanephros morphogenesis|negative regulation of transcription from RNA polymerase II promoter|olfactory bulb interneuron differentiation|olfactory bulb mitral cell layer development|olfactory nerve development|outer ear morphogenesis|pituitary gland development|positive regulation of Wnt receptor signaling pathway|positive regulation of transcription from RNA polymerase II promoter|ureteric bud invasion|ventricular septum development chromocenter|cytoplasm|heterochromatin|nucleus DNA binding|beta-catenin binding|sequence-specific DNA binding transcription factor activity|zinc ion binding p.T745T(1) NS(4)|breast(2)|central_nervous_system(2)|endometrium(3)|kidney(5)|large_intestine(25)|lung(61)|ovary(3)|prostate(6)|skin(12)|upper_aerodigestive_tract(3) 126 all_cancers(37;0.0322) COAD - Colon adenocarcinoma(2;0.24) GATTCCCTTTCGTGGTGAAAG 0.547000 28 13 0 0 0.001368 0 0 EPS8L3 79574 broad.mit.edu 37 1 110294734 110294734 + Silent SNP G T T TCGA-D3-A2JA-06A-11D-A196-08 TCGA-D3-A2JA-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx f961ddcc-fb01-4ad1-974e-ccb2656a328e a6cc66c4-23a1-43c8-9989-be2c10aa4f63 g.chr1:110294734G>T uc001dyr.2 - 14 1542 c.1317C>A c.(1315-1317)ccC>ccA p.P439P EPS8L3_uc001dys.2_Intron|EPS8L3_uc001dyq.2_Silent_p.P440P|EPS8L3_uc009wfm.2_Intron|EPS8L3_uc009wfn.2_Intron NM_133181 NP_573444 Q8TE67 ES8L3_HUMAN Homo sapiens EPS8-like 3 (EPS8L3), transcript variant 2, mRNA. 439 cytoplasm protein binding breast(1)|endometrium(3)|large_intestine(6)|lung(15)|ovary(5)|skin(1)|upper_aerodigestive_tract(1) 32 all_epithelial(167;1.95e-05)|all_lung(203;0.000135)|Lung NSC(277;0.000269) Lung(183;0.0245)|Colorectal(144;0.0365)|all cancers(265;0.103)|Epithelial(280;0.109)|LUSC - Lung squamous cell carcinoma(189;0.137)|COAD - Colon adenocarcinoma(174;0.141) GCCTGGAGTTGGGGTCCCCAG 0.562000 225 55 3.36121e-32 3.89119e-32 0.003610 1 0 PREX1 57580 broad.mit.edu 37 20 47274699 47274699 + Missense_Mutation SNP G A A TCGA-D3-A2JA-06A-11D-A196-08 TCGA-D3-A2JA-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx f961ddcc-fb01-4ad1-974e-ccb2656a328e a6cc66c4-23a1-43c8-9989-be2c10aa4f63 g.chr20:47274699G>A uc002xtw.1 - 16 1972 c.1949C>T c.(1948-1950)tCc>tTc p.S650F PREX1_uc002xtv.1_5'Flank NM_020820 NP_065871 Q8TCU6 PREX1_HUMAN Homo sapiens phosphatidylinositol-3,4,5-trisphosphate-dependent Rac exchange factor 1 (PREX1), mRNA. 650 PDZ. actin filament polymerization|apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|neutrophil activation|small GTPase mediated signal transduction|superoxide metabolic process cytosol|plasma membrane Rho GTPase activator activity|Rho guanyl-nucleotide exchange factor activity|enzyme binding|phospholipid binding breast(3)|central_nervous_system(1)|endometrium(4)|kidney(6)|large_intestine(27)|lung(53)|ovary(3)|pancreas(1)|prostate(1)|skin(2)|stomach(5)|upper_aerodigestive_tract(3)|urinary_tract(1) 110 BRCA - Breast invasive adenocarcinoma(12;0.0135)|Colorectal(8;0.198) CCTCTGGACGGACTTCACCAC 0.647000 OREG0026010 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 190 178 0 0 0.003610 0 0 BGN 633 broad.mit.edu 37 X 152773823 152773823 + Missense_Mutation SNP C T T TCGA-D3-A2JA-06A-11D-A196-08 TCGA-D3-A2JA-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx f961ddcc-fb01-4ad1-974e-ccb2656a328e a6cc66c4-23a1-43c8-9989-be2c10aa4f63 g.chrX:152773823C>T uc004fhr.2 + 7 1263 c.1027C>T c.(1027-1029)Ccc>Tcc p.P343S NM_001711 NP_001702 P21810 PGS1_HUMAN Homo sapiens biglycan (BGN), mRNA. 343 proteinaceous extracellular matrix|transport vesicle extracellular matrix structural constituent breast(2)|endometrium(3)|large_intestine(1)|lung(9)|ovary(1) 16 all_hematologic(71;4.25e-06)|Acute lymphoblastic leukemia(192;6.56e-05) CAACCCCGTGCCCTACTGGGA 0.592000 37 38 0 0 0.004878 0 0 MIA3 375056 broad.mit.edu 37 1 222832074 222832074 + Missense_Mutation SNP C G G TCGA-D3-A2JA-06A-11D-A196-08 TCGA-D3-A2JA-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx f961ddcc-fb01-4ad1-974e-ccb2656a328e a6cc66c4-23a1-43c8-9989-be2c10aa4f63 g.chr1:222832074C>G uc001hnl.3 + 18 4627 c.4618C>G c.(4618-4620)Caa>Gaa p.Q1540E MIA3_uc001hnm.3_Missense_Mutation_p.Q418E NM_198551 NP_940953 Q5JRA6 MIA3_HUMAN Homo sapiens melanoma inhibitory activity family, member 3 (MIA3), mRNA. 1540 exocytosis|negative regulation of cell adhesion|negative regulation of cell migration|positive regulation of leukocyte migration|protein transport|wound healing endoplasmic reticulum membrane|integral to membrane protein binding breast(5)|central_nervous_system(2)|endometrium(3)|kidney(2)|large_intestine(15)|lung(37)|ovary(5)|pancreas(2)|prostate(2)|skin(2)|stomach(4)|urinary_tract(1) 80 GBM - Glioblastoma multiforme(131;0.0199) GAAACTGAGTCAAGAAGAGTA 0.408000 336 9 0 0 0.006214 0 0 PDZD8 118987 broad.mit.edu 37 10 119042949 119042949 + Missense_Mutation SNP C T T TCGA-D3-A2JA-06A-11D-A196-08 TCGA-D3-A2JA-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx f961ddcc-fb01-4ad1-974e-ccb2656a328e a6cc66c4-23a1-43c8-9989-be2c10aa4f63 g.chr10:119042949C>T uc001lde.1 - 4 3494 c.3295G>A c.(3295-3297)Gaa>Aaa p.E1099K NM_173791 NP_776152 Q8NEN9 PDZD8_HUMAN Homo sapiens PDZ domain containing 8 (PDZD8), mRNA. 1099 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) TCTATATCTTCAATGCCTGCT 0.358000 28 11 0 0 0.001368 0 0 TMPRSS11E 28983 broad.mit.edu 37 4 69342025 69342025 + Silent SNP C T T TCGA-D3-A2JA-06A-11D-A196-08 TCGA-D3-A2JA-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx f961ddcc-fb01-4ad1-974e-ccb2656a328e a6cc66c4-23a1-43c8-9989-be2c10aa4f63 g.chr4:69342025C>T uc003hdz.4 + 6 640 c.576C>T c.(574-576)atC>atT p.I192I NM_014058 NP_054777 Q9UL52 TM11E_HUMAN Homo sapiens transmembrane protease, serine 11E (TMPRSS11E), mRNA. 192 Peptidase S1. proteolysis extracellular region|integral to plasma membrane serine-type endopeptidase activity endometrium(1)|lung(19)|pancreas(1)|skin(3) 24 GTCTCAGGATCGTTGGTGGGA 0.512000 121 35 0 0 0.004878 0 0 POM121L12 285877 broad.mit.edu 37 7 53103940 53103940 + Silent SNP C T T TCGA-D3-A2JA-06A-11D-A196-08 TCGA-D3-A2JA-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx f961ddcc-fb01-4ad1-974e-ccb2656a328e a6cc66c4-23a1-43c8-9989-be2c10aa4f63 g.chr7:53103940C>T uc003tpz.3 + 0 592 c.576C>T c.(574-576)ttC>ttT p.F192F NM_182595 NP_872401 Q8N7R1 P1L12_HUMAN Homo sapiens POM121 membrane glycoprotein-like 12 (POM121L12), mRNA. 192 endometrium(5)|kidney(1)|large_intestine(5)|lung(44)|prostate(2)|skin(2)|upper_aerodigestive_tract(2) 61 GCGCTAGGTTCGACGGGCCGT 0.701000 59 30 0 0 0.002445 0 0 MCM8 84515 broad.mit.edu 37 20 5963742 5963742 + Missense_Mutation SNP C T T rs61752704 TCGA-D3-A2JA-06A-11D-A196-08 TCGA-D3-A2JA-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx f961ddcc-fb01-4ad1-974e-ccb2656a328e a6cc66c4-23a1-43c8-9989-be2c10aa4f63 g.chr20:5963742C>T uc002wmk.3 + 13 2161 c.1784C>T c.(1783-1785)tCc>tTc p.S595F MCM8_uc002wmi.3_Missense_Mutation_p.S555F|MCM8_uc002wmj.3_Missense_Mutation_p.S539F|MCM8_uc002wml.3_Missense_Mutation_p.S555F|MCM8_uc010gbp.3_Missense_Mutation_p.S508F|MCM8_uc002wmm.3_Missense_Mutation_p.S93F NM_032485 NP_115874 Q9UJA3 MCM8_HUMAN Homo sapiens minichromosome maintenance complex component 8 (MCM8), transcript variant 1, mRNA. 555 MCM. 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 GCAAGAACTTCCATTATTGCT 0.388000 27 23 0 0 0.002780 0 0 CASP1 834 broad.mit.edu 37 11 104971360 104971360 + Missense_Mutation SNP C T T TCGA-D3-A2JA-06A-11D-A196-08 TCGA-D3-A2JA-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx f961ddcc-fb01-4ad1-974e-ccb2656a328e a6cc66c4-23a1-43c8-9989-be2c10aa4f63 g.chr11:104971360C>T uc001pir.1 - 1 171 c.154G>A c.(154-156)Gat>Aat p.D52N CASP1_uc010rve.2_Intron|CASP1_uc010rvf.2_Intron|CASP1_uc010rvg.2_Intron|CASP1_uc010rvh.2_Intron|CASP1_uc010rvi.2_Intron NM_001007232 NP_001007233 P29466 CASP1_HUMAN Homo sapiens caspase recruitment domain family, member 17 (CARD17), mRNA. 52 CARD. cellular response to mechanical stimulus|cellular response to organic substance|positive regulation of I-kappaB kinase/NF-kappaB cascade|proteolysis|signal transduction cytosol caspase activator activity|cysteine-type endopeptidase activity|protein binding haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|ovary(2) 5 Acute lymphoblastic leukemia(157;0.000967)|all_hematologic(158;0.0017)|Melanoma(852;0.0047) BRCA - Breast invasive adenocarcinoma(274;0.000525)|Epithelial(105;0.0128)|all cancers(92;0.0482) Minocycline(DB01017)|Penicillamine(DB00859) CGGGCCTTATCCATAACTGTA 0.443000 41 38 0 0 0.005524 0 0 SYT10 341359 broad.mit.edu 37 12 33579237 33579237 + Missense_Mutation SNP T G G TCGA-D3-A2JA-06A-11D-A196-08 TCGA-D3-A2JA-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx f961ddcc-fb01-4ad1-974e-ccb2656a328e a6cc66c4-23a1-43c8-9989-be2c10aa4f63 g.chr12:33579237T>G uc001rll.1 - 1 642 c.345A>C c.(343-345)gaA>gaC p.E115D SYT10_uc009zju.1_5'UTR NM_198992 NP_945343 Q6XYQ8 SYT10_HUMAN Homo sapiens synaptotagmin X (SYT10), mRNA. 115 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) TTTCCTTAATTTCTTTTTTCT 0.418000 84 20 0 0 0.001882 0 0 SPAG16 79582 broad.mit.edu 37 2 214354720 214354720 + Missense_Mutation SNP C T T TCGA-D3-A2JA-06A-11D-A196-08 TCGA-D3-A2JA-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx f961ddcc-fb01-4ad1-974e-ccb2656a328e a6cc66c4-23a1-43c8-9989-be2c10aa4f63 g.chr2:214354720C>T uc002veq.3 + 9 1068 c.976C>T c.(976-978)Cca>Tca p.P326S SPAG16_uc010fuz.2_Missense_Mutation_p.P177S|SPAG16_uc002ver.3_Missense_Mutation_p.P272S|SPAG16_uc010zjk.2_Missense_Mutation_p.P232S NM_024532 NP_078808 Q8N0X2 SPG16_HUMAN Homo sapiens sperm associated antigen 16 (SPAG16), transcript variant 1, mRNA. 326 cilium assembly cilium axoneme|flagellar axoneme endometrium(4)|kidney(1)|large_intestine(15)|lung(27)|ovary(1)|prostate(3)|skin(2)|stomach(1)|upper_aerodigestive_tract(2) 56 Renal(323;0.00461) UCEC - Uterine corpus endometrioid carcinoma (47;0.0525)|Epithelial(149;7.07e-07)|all cancers(144;7.96e-05)|Lung(261;0.00255)|LUSC - Lung squamous cell carcinoma(224;0.00599) GCAACCAAATCCAAACCTGAA 0.353000 79 86 0 0 0.003610 0 0 FRMPD3 84443 broad.mit.edu 37 X 106845830 106845830 + Missense_Mutation SNP C T T TCGA-D3-A2JA-06A-11D-A196-08 TCGA-D3-A2JA-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx f961ddcc-fb01-4ad1-974e-ccb2656a328e a6cc66c4-23a1-43c8-9989-be2c10aa4f63 g.chrX:106845830C>T uc022cce.1 + 0 2196 c.1828C>T c.(1828-1830)Ccc>Tcc p.P610S Q5JV73 FRPD3_HUMAN Homo sapiens mRNA for KIAA1817 protein, partial cds. 1554 cytoskeleton breast(3)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(16)|ovary(2)|urinary_tract(1) 28 CTACTCTATCCCCATGAAGAT 0.577000 23 26 0 0 0.006320 0 0 CTSE 1510 broad.mit.edu 37 1 206318330 206318330 + Missense_Mutation SNP C T T TCGA-D3-A2JA-06A-11D-A196-08 TCGA-D3-A2JA-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx f961ddcc-fb01-4ad1-974e-ccb2656a328e a6cc66c4-23a1-43c8-9989-be2c10aa4f63 g.chr1:206318330C>T uc001hdu.3 + 1 206 c.88C>T c.(88-90)Ccg>Tcg p.P30S CTSE_uc001hdv.3_Missense_Mutation_p.P30S|CTSE_uc010prs.2_Intron NM_001910 NP_001901 P14091 CATE_HUMAN Homo sapiens cathepsin E (CTSE), transcript variant 1, mRNA. 30 antigen processing and presentation of exogenous peptide antigen via MHC class II|digestion|proteolysis endosome aspartic-type endopeptidase activity endometrium(2)|large_intestine(3)|lung(5)|ovary(2)|prostate(1)|skin(3) 16 BRCA - Breast invasive adenocarcinoma(75;0.0754) CAGGAGGCATCCGTCCCTCAA 0.557000 44 36 0 0 0.004289 0 0 FABP7 2173 broad.mit.edu 37 6 123101437 123101437 + Splice_Site SNP C A A TCGA-D3-A2JA-06A-11D-A196-08 TCGA-D3-A2JA-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx f961ddcc-fb01-4ad1-974e-ccb2656a328e a6cc66c4-23a1-43c8-9989-be2c10aa4f63 g.chr6:123101437C>A uc003pzf.3 + 2 368 c.74_splice c.e2-1 p.G25_splice FABP7_uc003pzd.3_Splice_Site_p.G25_splice|FABP7_uc003pze.1_Splice_Site_p.G25_splice NM_001446 NP_001437 O15540 FABP7_HUMAN Homo sapiens fatty acid binding protein 7, brain (FABP7), mRNA. 25 negative regulation of cell proliferation cytoplasm lipid binding|transporter activity kidney(1)|large_intestine(1)|lung(2)|stomach(1) 5 GBM - Glioblastoma multiforme(226;0.226) Alpha-Linolenic Acid(DB00132)|Icosapent(DB00159)|gamma-Homolinolenic acid(DB00154) CTATTTTAGGCGTGGGCTTTG 0.448000 27 21 2.21704e-12 2.54548e-12 0.002780 1 0 ERBB4 2066 broad.mit.edu 37 2 212295699 212295699 + Missense_Mutation SNP C T T TCGA-D3-A2JA-06A-11D-A196-08 TCGA-D3-A2JA-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx f961ddcc-fb01-4ad1-974e-ccb2656a328e a6cc66c4-23a1-43c8-9989-be2c10aa4f63 g.chr2:212295699C>T uc002veg.1 - 20 2712 c.2614G>A c.(2614-2616)Gaa>Aaa p.E872K ERBB4_uc002veh.1_Missense_Mutation_p.E872K|ERBB4_uc010zji.1_Missense_Mutation_p.E862K|ERBB4_uc010zjj.1_Missense_Mutation_p.E862K NM_005235 NP_005226 Q15303 ERBB4_HUMAN Homo sapiens v-erb-a erythroblastic leukemia viral oncogene homolog 4 (avian) (ERBB4), transcript variant JM-a/CVT-1, mRNA. 872 Protein kinase. cell proliferation|regulation of transcription, DNA-dependent|transcription, DNA-dependent|transmembrane receptor protein tyrosine kinase signaling pathway basolateral plasma membrane|cytoplasm|integral to membrane|nucleus ATP binding|protein binding|receptor signaling protein tyrosine kinase activity|transmembrane receptor protein tyrosine kinase activity p.E872K(4) NS(1)|breast(7)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(31)|lung(71)|pancreas(1)|prostate(3)|skin(39)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(1) 179 Renal(323;0.06)|Lung NSC(271;0.197) UCEC - Uterine corpus endometrioid carcinoma (47;0.214)|Epithelial(149;5.86e-06)|all cancers(144;2.95e-05)|Lung(261;0.00244)|LUSC - Lung squamous cell carcinoma(224;0.00266) TACTCTTTTTCATCTCCTTCC 0.378000 TSP Lung(8;0.080) 60 30 0 0 0.002445 0 0 PPP1R16A 84988 broad.mit.edu 37 8 145726979 145726979 + Missense_Mutation SNP G T T TCGA-D3-A2JA-06A-11D-A196-08 TCGA-D3-A2JA-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx f961ddcc-fb01-4ad1-974e-ccb2656a328e a6cc66c4-23a1-43c8-9989-be2c10aa4f63 g.chr8:145726979G>T uc003zdd.3 + 10 2193 c.1280G>T c.(1279-1281)cGa>cTa p.R427L AK094577_uc003zde.1_5'Flank|PPP1R16A_uc003zdf.3_Missense_Mutation_p.R427L|GPT_uc011llj.1_5'Flank|GPT_uc003zdh.4_5'Flank NM_032902 NP_116291 Q96I34 PP16A_HUMAN Homo sapiens protein phosphatase 1, regulatory subunit 16A (PPP1R16A), mRNA. 427 plasma membrane protein binding NS(1)|endometrium(1)|kidney(2)|lung(3)|prostate(1) 8 all_cancers(97;5.56e-11)|all_epithelial(106;3.54e-10)|Lung NSC(106;5.7e-05)|all_lung(105;0.000174)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155) OV - Ovarian serous cystadenocarcinoma(54;1.48e-41)|Epithelial(56;1.85e-40)|all cancers(56;3.59e-35)|BRCA - Breast invasive adenocarcinoma(115;0.0483)|Colorectal(110;0.055) TACTCCAAGCGACTAGACCGG 0.647000 4 9 9.70103e-10 1.10926e-09 0.008291 1 0 SYNE1 23345 broad.mit.edu 37 6 152652612 152652612 + Missense_Mutation SNP G A A rs139490297 TCGA-D3-A2JA-06A-11D-A196-08 TCGA-D3-A2JA-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx f961ddcc-fb01-4ad1-974e-ccb2656a328e a6cc66c4-23a1-43c8-9989-be2c10aa4f63 g.chr6:152652612G>A uc021zhb.1 - 75 13431 c.13208C>T c.(13207-13209)tCg>tTg p.S4403L SYNE1_uc003qot.4_Missense_Mutation_p.S4332L|SYNE1_uc003qou.4_Missense_Mutation_p.S4403L|SYNE1_uc010kiz.3_Missense_Mutation_p.S158L NM_182961 NP_892006 Q8NF91 SYNE1_HUMAN Homo sapiens spectrin repeat containing, nuclear envelope 1 (SYNE1), transcript variant 1, mRNA. 4403 Golgi organization|cell death|cytoskeletal anchoring at nuclear membrane|muscle cell differentiation|nuclear matrix anchoring at nuclear membrane Golgi apparatus|SUN-KASH complex|cytoskeleton|integral to membrane|nuclear outer membrane|postsynaptic membrane|sarcomere actin binding|lamin binding p.S4403L(3) NS(3)|biliary_tract(1)|breast(17)|central_nervous_system(21)|cervix(3)|endometrium(27)|haematopoietic_and_lymphoid_tissue(4)|kidney(16)|large_intestine(138)|liver(1)|lung(190)|ovary(11)|pancreas(5)|prostate(12)|skin(20)|stomach(3)|upper_aerodigestive_tract(33)|urinary_tract(19) 524 Ovarian(120;0.0955) BRCA - Breast invasive adenocarcinoma(37;0.243) OV - Ovarian serous cystadenocarcinoma(155;2.24e-10) CTTTATAAGCGATTTCAGGAG 0.522000 HNSCC(10;0.0054) 21 36 0 0 0.003755 0 0 SERPINA4 5267 broad.mit.edu 37 14 95033392 95033392 + Missense_Mutation SNP G A A TCGA-D3-A2JA-06A-11D-A196-08 TCGA-D3-A2JA-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx f961ddcc-fb01-4ad1-974e-ccb2656a328e a6cc66c4-23a1-43c8-9989-be2c10aa4f63 g.chr14:95033392G>A uc010avd.3 + 2 1120 c.846G>A c.(844-846)atG>atA p.M282I SERPINA4_uc001ydk.3_Missense_Mutation_p.M245I|SERPINA4_uc001ydl.3_Missense_Mutation_p.M245I NM_006215 NP_006206 P29622 KAIN_HUMAN Homo sapiens serpin peptidase inhibitor, clade A (alpha-1 antiproteinase, antitrypsin), member 4 (SERPINA4), mRNA. 245 regulation of proteolysis extracellular space serine-type endopeptidase inhibitor activity breast(2)|endometrium(1)|kidney(1)|large_intestine(9)|lung(28)|ovary(3)|skin(1)|urinary_tract(1) 46 COAD - Colon adenocarcinoma(157;0.211) GGGTGCCCATGATGCTGCAGG 0.498000 48 14 0 0 0.001855 0 0 RGAG1 57529 broad.mit.edu 37 X 109694200 109694200 + Missense_Mutation SNP C T T TCGA-D3-A2JA-06A-11D-A196-08 TCGA-D3-A2JA-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx f961ddcc-fb01-4ad1-974e-ccb2656a328e a6cc66c4-23a1-43c8-9989-be2c10aa4f63 g.chrX:109694200C>T uc004eor.2 + 2 601 c.355C>T c.(355-357)Cca>Tca p.P119S RGAG1_uc011msr.1_Missense_Mutation_p.P119S NM_020769 NP_065820 Q8NET4 RGAG1_HUMAN Homo sapiens retrotransposon gag domain containing 1 (RGAG1), mRNA. 119 p.M118L(1) NS(1)|autonomic_ganglia(1)|breast(2)|cervix(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(15)|liver(1)|lung(29)|ovary(1)|prostate(5)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(2) 73 ATTGCTAATGCCAGCCTTAGA 0.522000 40 44 0 0 0.002522 0 0 UNC13A 23025 broad.mit.edu 37 19 17756847 17756847 + Silent SNP C T T TCGA-D3-A2JA-06A-11D-A196-08 TCGA-D3-A2JA-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx f961ddcc-fb01-4ad1-974e-ccb2656a328e a6cc66c4-23a1-43c8-9989-be2c10aa4f63 g.chr19:17756847C>T uc021uqk.1 - 17 2157 c.2115G>A c.(2113-2115)ggG>ggA p.G705G NM_001080421 NP_001073890 Q9UPW8 UN13A_HUMAN Homo sapiens unc-13 homolog A (C. elegans) (UNC13A), mRNA. 706 C2 2. exocytosis|intracellular signal transduction cell junction|cytoplasm|presynaptic membrane metal ion binding p.A704V(1) breast(2)|cervix(1)|endometrium(6)|kidney(3)|large_intestine(11)|lung(31)|ovary(5)|prostate(2) 61 TCTTGGTCTTCCCGACCTGGA 0.567000 17 17 0 0 0.006122 0 0 CNTNAP5 129684 broad.mit.edu 37 2 125555877 125555877 + Missense_Mutation SNP T C C TCGA-D3-A2JA-06A-11D-A196-08 TCGA-D3-A2JA-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx f961ddcc-fb01-4ad1-974e-ccb2656a328e a6cc66c4-23a1-43c8-9989-be2c10aa4f63 g.chr2:125555877T>C uc010flu.3 + 18 3561 c.3197T>C c.(3196-3198)gTt>gCt p.V1066A CNTNAP5_uc002tno.3_Missense_Mutation_p.V1065A NM_130773 NP_570129 Q8WYK1 CNTP5_HUMAN Homo sapiens contactin associated protein-like 5 (CNTNAP5), mRNA. 1065 Laminin G-like 4. cell adhesion|signal transduction integral to membrane receptor binding NS(1)|breast(4)|central_nervous_system(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(3)|kidney(4)|large_intestine(24)|lung(100)|ovary(10)|prostate(12)|skin(4)|upper_aerodigestive_tract(3) 176 BRCA - Breast invasive adenocarcinoma(221;0.248) GACTTCGTGGTTGTTCTGCTC 0.502000 74 11 0 0 0.001368 0 0 SLC17A2 10246 broad.mit.edu 37 6 25926018 25926018 + Missense_Mutation SNP C T T rs141137330 TCGA-D3-A2JA-06A-11D-A196-08 TCGA-D3-A2JA-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx f961ddcc-fb01-4ad1-974e-ccb2656a328e a6cc66c4-23a1-43c8-9989-be2c10aa4f63 g.chr6:25926018C>T uc011dkb.2 - 0 90 c.7G>A c.(7-9)Ggg>Agg p.G3R SLC17A2_uc011dkc.2_Missense_Mutation_p.G3R|SLC17A2_uc003nfl.3_Missense_Mutation_p.G3R O00624 NPT3_HUMAN Homo sapiens solute carrier family 17 (sodium phosphate), member 2 (SLC17A2), mRNA. 3 phosphate metabolic process integral to plasma membrane|membrane fraction sodium:phosphate symporter activity endometrium(3)|kidney(1)|large_intestine(9)|lung(12)|ovary(2)|skin(3)|upper_aerodigestive_tract(1) 31 GCAGGCTTCCCGTCCATTTAG 0.458000 109 78 0 0 0.003610 0 0 CLK2P 1197 broad.mit.edu 37 7 23625422 23625422 + Silent SNP G A A TCGA-D3-A2JA-06A-11D-A196-08 TCGA-D3-A2JA-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx f961ddcc-fb01-4ad1-974e-ccb2656a328e a6cc66c4-23a1-43c8-9989-be2c10aa4f63 g.chr7:23625422G>A uc003swk.2 - 0 725 c.75C>T c.(73-75)ttC>ttT p.F25F Homo sapiens CDC-like kinase 2, pseudogene (CLK2P), non-coding RNA. TGTCTTTGAGGAAATCGAAGG 0.532000 30 23 0 0 0.002299 0 0 SIPA1L3 23094 broad.mit.edu 37 19 38573337 38573337 + Missense_Mutation SNP G A A rs141105353 TCGA-D3-A2JA-06A-11D-A196-08 TCGA-D3-A2JA-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx f961ddcc-fb01-4ad1-974e-ccb2656a328e a6cc66c4-23a1-43c8-9989-be2c10aa4f63 g.chr19:38573337G>A uc002ohk.3 + 2 1641 c.1132G>A c.(1132-1134)Gcc>Acc p.A378T NM_015073 NP_055888 O60292 SI1L3_HUMAN Homo sapiens signal-induced proliferation-associated 1 like 3 (SIPA1L3), mRNA. 378 regulation of small GTPase mediated signal transduction intracellular GTPase activator activity NS(1)|breast(3)|central_nervous_system(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(8)|lung(22)|ovary(2)|prostate(4)|skin(3) 59 Lung(45;0.000246)|LUSC - Lung squamous cell carcinoma(53;0.000292) CGCTTCCGCCGCCTCGGCCAT 0.682000 26 10 0 0 0.006214 0 0 URB2 9816 broad.mit.edu 37 1 229770694 229770694 + Missense_Mutation SNP C T T TCGA-D3-A2JA-06A-11D-A196-08 TCGA-D3-A2JA-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx f961ddcc-fb01-4ad1-974e-ccb2656a328e a6cc66c4-23a1-43c8-9989-be2c10aa4f63 g.chr1:229770694C>T uc001hts.1 + 3 470 c.334C>T c.(334-336)Ctt>Ttt p.L112F URB2_uc009xfd.1_Missense_Mutation_p.L112F NM_014777 NP_055592 Q14146 URB2_HUMAN Homo sapiens URB2 ribosome biogenesis 2 homolog (S. cerevisiae) (URB2), mRNA. 112 nucleolus breast(1)|central_nervous_system(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(12)|lung(33)|ovary(1)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(6) 73 TGAGTTCTCTCTTTCGGGATC 0.433000 43 14 0 0 0.006122 0 0 SLX4 84464 broad.mit.edu 37 16 3632685 3632685 + Silent SNP G A A TCGA-D3-A2JA-06A-11D-A196-08 TCGA-D3-A2JA-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx f961ddcc-fb01-4ad1-974e-ccb2656a328e a6cc66c4-23a1-43c8-9989-be2c10aa4f63 g.chr16:3632685G>A uc002cvp.2 - 14 5790 c.5163C>T c.(5161-5163)tcC>tcT p.S1721S NM_032444 NP_115820 Q8IY92 SLX4_HUMAN Homo sapiens SLX4 structure-specific endonuclease subunit homolog (S. cerevisiae) (SLX4), mRNA. 1721 Interaction with PLK1 and TERF2-TERF2IP.|Interaction with SLX1.|Poly-Ser. DNA double-strand break processing involved in repair via single-strand annealing|double-strand break repair via homologous recombination|nucleotide-excision repair Slx1-Slx4 complex enzyme activator activity|protein binding breast(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(18)|lung(20)|ovary(3)|pancreas(1)|prostate(7)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1) 76 CAAACTCACAGGAGGAAGAAC 0.592000 Direct reversal of damage 19 3 0 0 0.004672 0 0 ST8SIA1 6489 broad.mit.edu 37 12 22486958 22486958 + Missense_Mutation SNP C T T TCGA-D3-A2JA-06A-11D-A196-08 TCGA-D3-A2JA-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx f961ddcc-fb01-4ad1-974e-ccb2656a328e a6cc66c4-23a1-43c8-9989-be2c10aa4f63 g.chr12:22486958C>T uc001rfo.4 - 0 691 c.209G>A c.(208-210)aGg>aAg p.R70K ST8SIA1_uc009zix.3_5'UTR NM_003034 NP_003025 Q92185 SIA8A_HUMAN Homo sapiens ST8 alpha-N-acetyl-neuraminide alpha-2,8-sialyltransferase 1 (ST8SIA1), mRNA. 70 glycosphingolipid biosynthetic process|protein glycosylation integral to Golgi membrane alpha-N-acetylneuraminate alpha-2,8-sialyltransferase activity breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(10)|ovary(3)|skin(1)|upper_aerodigestive_tract(1) 25 GGTCTGGTTCCTCCTCCACGC 0.652000 45 20 0 0 0.002780 0 0 SIPA1 6494 broad.mit.edu 37 11 65413395 65413395 + Silent SNP G A A TCGA-D3-A2JA-06A-11D-A196-08 TCGA-D3-A2JA-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx f961ddcc-fb01-4ad1-974e-ccb2656a328e a6cc66c4-23a1-43c8-9989-be2c10aa4f63 g.chr11:65413395G>A uc001ofb.2 + 5 1397 c.1230G>A c.(1228-1230)acG>acA p.T410T SIPA1_uc010rom.1_Silent_p.T410T|SIPA1_uc001ofd.2_Silent_p.T410T NM_006747 NP_694985 Q96FS4 SIPA1_HUMAN Homo sapiens signal-induced proliferation-associated 1 (SIPA1), transcript variant 2, mRNA. 410 Rap-GAP. cell proliferation|cytoskeleton organization|intracellular signal transduction|negative regulation of cell adhesion|negative regulation of cell cycle|negative regulation of cell growth cytosol|endomembrane system|membrane|perinuclear region of cytoplasm Rap GTPase activator activity cervix(1)|endometrium(2)|large_intestine(2)|lung(3)|prostate(1)|urinary_tract(1) 10 ACGTGTCCACGATGCTGCCTT 0.602000 1 8 0 0 0.000978 0 0 CRLF1 9244 broad.mit.edu 37 19 18707559 18707560 + Missense_Mutation DNP GG AA AA TCGA-D3-A2JA-06A-11D-A196-08 TCGA-D3-A2JA-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx f961ddcc-fb01-4ad1-974e-ccb2656a328e a6cc66c4-23a1-43c8-9989-be2c10aa4f63 g.chr19:18707559_18707560GG>AA uc010ebt.2 - 5 1090_1091 c.896_897CC>TT c.(895-897)gcc>gTT p.A299V NM_004750 NP_004741 O75462 CRLF1_HUMAN Homo sapiens cytokine receptor-like factor 1 (CRLF1), mRNA. 299 Fibronectin type-III 2. negative regulation of neuron apoptosis|positive regulation of cell proliferation|positive regulation of tyrosine phosphorylation of Stat3 protein extracellular space cytokine binding|protein heterodimerization activity|receptor activity central_nervous_system(2)|endometrium(1)|kidney(1)|large_intestine(1)|lung(3)|ovary(1) 9 GTTTCAGGCCGGCCAGGCGGCA 0.644000 17 20 0 0 0.004672 0 0 C1orf123 54987 broad.mit.edu 37 1 53684129 53684129 + Silent SNP G A A TCGA-D3-A2JA-06A-11D-A196-08 TCGA-D3-A2JA-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx f961ddcc-fb01-4ad1-974e-ccb2656a328e a6cc66c4-23a1-43c8-9989-be2c10aa4f63 g.chr1:53684129G>A uc001cvd.3 - 3 228 c.186C>T c.(184-186)tcC>tcT p.S62S NM_017887 NP_060357 Q9NWV4 CA123_HUMAN Homo sapiens chromosome 1 open reading frame 123 (C1orf123), mRNA. 62 endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|pancreas(2)|skin(1) 6 TCTGGACCATGGAAGCACTGC 0.527000 33 16 0 0 0.004007 0 0 CEP72 55722 broad.mit.edu 37 5 620264 620264 + Silent SNP C T T TCGA-D3-A2JA-06A-11D-A196-08 TCGA-D3-A2JA-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx f961ddcc-fb01-4ad1-974e-ccb2656a328e a6cc66c4-23a1-43c8-9989-be2c10aa4f63 g.chr5:620264C>T uc003jbf.3 + 2 363 c.291C>T c.(289-291)ctC>ctT p.L97L CEP72_uc011clz.1_Non-coding_Transcript NM_018140 NP_060610 Q9P209 CEP72_HUMAN Homo sapiens centrosomal protein 72kDa (CEP72), mRNA. 97 G2/M transition of mitotic cell cycle|gamma-tubulin complex localization|spindle organization centrosome|cytosol autonomic_ganglia(1)|central_nervous_system(1)|cervix(1)|endometrium(1)|large_intestine(1)|liver(1)|lung(5)|ovary(2)|prostate(3)|skin(1)|stomach(1)|urinary_tract(2) 20 Epithelial(17;0.000339)|all cancers(22;0.00137)|OV - Ovarian serous cystadenocarcinoma(19;0.00153)|Lung(60;0.0863) TGTTTCGGCTCCACGCCTTAA 0.532000 46 8 0 0 0.004482 0 0 URGCP 55665 broad.mit.edu 37 7 43917430 43917431 + Missense_Mutation DNP GG AA AA TCGA-D3-A2JA-06A-11D-A196-08 TCGA-D3-A2JA-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx f961ddcc-fb01-4ad1-974e-ccb2656a328e a6cc66c4-23a1-43c8-9989-be2c10aa4f63 g.chr7:43917430_43917431GG>AA uc003tiw.3 - 5 1688_1689 c.1631_1632CC>TT c.(1630-1632)ccc>cTT p.P544L URGCP_uc022acg.1_Intron|URGCP_uc003tiu.3_Missense_Mutation_p.P501L|URGCP_uc003tiv.3_Missense_Mutation_p.P469L|URGCP_uc003tix.3_Missense_Mutation_p.P535L|URGCP_uc003tiy.3_Missense_Mutation_p.P501L|URGCP_uc003tiz.3_Missense_Mutation_p.P501L|URGCP_uc011kbj.2_Missense_Mutation_p.P501L NM_001077663 NP_001071131 Q8TCY9 URGCP_HUMAN Homo sapiens upregulator of cell proliferation (URGCP), nuclear gene encoding mitochondrial protein, transcript variant 3, mRNA. 544 P -> S (in Ref. 1; AAL83710). cell cycle centrosome|nucleus GTP binding breast(3)|endometrium(4)|kidney(2)|large_intestine(3)|liver(1)|lung(13)|ovary(2)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 34 CCCCCGAGGAGGGATCATGGCC 0.634000 42 14 0 0 0.004672 0 0 TTC23L 153657 broad.mit.edu 37 5 34880300 34880300 + Missense_Mutation SNP T C C TCGA-D3-A2JA-06A-11D-A196-08 TCGA-D3-A2JA-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx f961ddcc-fb01-4ad1-974e-ccb2656a328e a6cc66c4-23a1-43c8-9989-be2c10aa4f63 g.chr5:34880300T>C uc003jiu.3 + 8 1067 c.964T>C c.(964-966)Tat>Cat p.Y322H TTC23L_uc010iut.1_Silent_p.Y92Y NM_144725 NP_653326 Q6PF05 TT23L_HUMAN Homo sapiens tetratricopeptide repeat domain 23-like (TTC23L), mRNA. 322 binding p.I321M(1) breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(5)|lung(9)|prostate(2)|stomach(1)|urinary_tract(1) 22 TGTTGAGATATATTTCATAAG 0.348000 32 13 0 0 0.001368 0 0 FAM82A1 151393 broad.mit.edu 37 2 38178943 38178943 + Silent SNP T G G TCGA-D3-A2JA-06A-11D-A196-08 TCGA-D3-A2JA-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx f961ddcc-fb01-4ad1-974e-ccb2656a328e a6cc66c4-23a1-43c8-9989-be2c10aa4f63 g.chr2:38178943T>G uc002rqn.2 + 1 711 c.585T>G c.(583-585)acT>acG p.T195T FAM82A1_uc002rqk.1_Intron|FAM82A1_uc002rql.3_Intron|FAM82A1_uc021vga.1_Intron|FAM82A1_uc002rqm.3_Intron NM_144713 NP_653314 Q96LZ7 RMD2_HUMAN Homo sapiens family with sequence similarity 82, member A1 (FAM82A1), transcript variant 1, mRNA. 0 cytoplasm|integral to membrane|microtubule|spindle pole binding endometrium(2)|large_intestine(5)|lung(4)|ovary(1)|prostate(1) 13 CAAACACTACTTCTCCAGCCT 0.338000 90 45 0 0 0.003610 0 0 SEZ6L 23544 broad.mit.edu 37 22 26702042 26702042 + Silent SNP G A A rs142670064 TCGA-D3-A2JA-06A-11D-A196-08 TCGA-D3-A2JA-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx f961ddcc-fb01-4ad1-974e-ccb2656a328e a6cc66c4-23a1-43c8-9989-be2c10aa4f63 g.chr22:26702042G>A uc003acb.3 + 5 1642 c.1446G>A c.(1444-1446)acG>acA p.T482T SEZ6L_uc003acd.3_Silent_p.T482T|SEZ6L_uc011akd.2_Silent_p.T482T|SEZ6L_uc003ace.3_Silent_p.T482T|SEZ6L_uc011akc.2_Silent_p.T482T|SEZ6L_uc003acc.3_Silent_p.T482T|SEZ6L_uc003acf.1_Silent_p.T255T|SEZ6L_uc010gvc.1_Silent_p.T255T NM_021115 NP_066938 Q9BYH1 SE6L1_HUMAN Homo sapiens seizure related 6 homolog (mouse)-like (SEZ6L), transcript variant 1, mRNA. 482 CUB 2. endoplasmic reticulum membrane|integral to membrane breast(1)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(18)|lung(35)|ovary(4)|pancreas(1)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(1) 80 GCATCTGGACGATTGAAGCTC 0.562000 41 29 0 0 0.006320 0 0 KRT3 3850 broad.mit.edu 37 12 53186124 53186124 + Missense_Mutation SNP G A A TCGA-D3-A2JA-06A-11D-A196-08 TCGA-D3-A2JA-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx f961ddcc-fb01-4ad1-974e-ccb2656a328e a6cc66c4-23a1-43c8-9989-be2c10aa4f63 g.chr12:53186124G>A uc001say.3 - 4 1153 c.1087C>T c.(1087-1089)Cgc>Tgc p.R363C NM_057088 NP_476429 P12035 K2C3_HUMAN Homo sapiens keratin 3 (KRT3), mRNA. 363 Linker 12.|Rod. epithelial cell differentiation|intermediate filament cytoskeleton organization keratin filament structural molecule activity NS(1)|endometrium(3)|kidney(1)|large_intestine(7)|lung(8)|prostate(2)|skin(1) 23 TCCAGGGAGCGATTATTGTCC 0.522000 30 12 0 0 0.001368 0 0 OTOF 9381 broad.mit.edu 37 2 26700578 26700578 + Missense_Mutation SNP C T T TCGA-D3-A2JA-06A-11D-A196-08 TCGA-D3-A2JA-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx f961ddcc-fb01-4ad1-974e-ccb2656a328e a6cc66c4-23a1-43c8-9989-be2c10aa4f63 g.chr2:26700578C>T uc002rhk.3 - 18 2381 c.2254G>A c.(2254-2256)Gag>Aag p.E752K OTOF_uc002rhh.3_Missense_Mutation_p.E5K|OTOF_uc002rhi.3_Missense_Mutation_p.E62K|OTOF_uc002rhj.3_Missense_Mutation_p.E5K NM_194248 NP_919224 Q9HC10 OTOF_HUMAN Homo sapiens otoferlin (OTOF), transcript variant 1, mRNA. 752 cellular membrane fusion|sensory perception of sound|synaptic vesicle exocytosis basolateral plasma membrane|cell junction|cytosol|endoplasmic reticulum membrane|integral to membrane|membrane fraction|synaptic vesicle membrane calcium ion binding NS(1)|autonomic_ganglia(1)|breast(9)|central_nervous_system(4)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(14)|lung(35)|ovary(8)|pancreas(1)|prostate(5)|skin(5)|stomach(4)|upper_aerodigestive_tract(3)|urinary_tract(1) 106 Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215) TAGGACTTCTCCGTTTTGATC 0.632000 34 11 0 0 0.008291 0 0 HIPK1 204851 broad.mit.edu 37 1 114512713 114512713 + Silent SNP G A A TCGA-D3-A2JA-06A-11D-A196-08 TCGA-D3-A2JA-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx f961ddcc-fb01-4ad1-974e-ccb2656a328e a6cc66c4-23a1-43c8-9989-be2c10aa4f63 g.chr1:114512713G>A uc001eem.3 + 13 3068 c.2907G>A c.(2905-2907)ttG>ttA p.L969L HIPK1_uc001eel.3_Silent_p.L969L|HIPK1_uc001een.3_Silent_p.L969L|HIPK1_uc001eeo.3_Silent_p.L595L|HIPK1_uc001eep.3_Silent_p.L575L|HIPK1_uc001eeq.3_Silent_p.L261L NM_198268 NP_938010 Q86Z02 HIPK1_HUMAN Homo sapiens homeodomain interacting protein kinase 1 (HIPK1), transcript variant 1, mRNA. 969 Interaction with TP53.|Required for localization to nuclear speckles (By similarity). regulation of transcription, DNA-dependent|transcription, DNA-dependent cytoplasm|nucleus ATP binding|protein binding|protein serine/threonine kinase activity breast(2)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(9)|lung(15)|ovary(4)|prostate(2) 39 Lung SC(450;0.184) all_cancers(81;4.5e-08)|all_epithelial(167;1.09e-07)|all_lung(203;1.53e-05)|Lung NSC(69;2.76e-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) GATCCGTTTTGGAGGGGCCTG 0.527000 115 35 0 0 0.003755 0 0 TTN 7273 broad.mit.edu 37 2 179396737 179396737 + Missense_Mutation SNP C T T TCGA-D3-A2JA-06A-11D-A196-08 TCGA-D3-A2JA-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx f961ddcc-fb01-4ad1-974e-ccb2656a328e a6cc66c4-23a1-43c8-9989-be2c10aa4f63 g.chr2:179396737C>T uc021vsy.1 - 306 97126 c.96901G>A c.(96901-96903)Gaa>Aaa p.E32301K MIR548N_uc021vsx.1_Intron|LOC100506866_uc002umo.3_Intron|LOC100506866_uc002ump.2_Intron|TTN_uc021vsz.1_Missense_Mutation_p.E25996K|TTN_uc021vta.1_Missense_Mutation_p.E25929K|TTN_uc021vtb.1_Missense_Mutation_p.E25804K|TTN_uc002umq.3_5'Flank NM_133378 NP_596869 Q8WZ42 TITIN_HUMAN Homo sapiens titin (TTN), transcript variant N2-A, mRNA. 33228 Protein kinase. 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) GTGTCATCTTCGTATTCCTCA 0.527000 29 8 0 0 0.006214 0 0 PKHD1L1 93035 broad.mit.edu 37 8 110451278 110451278 + Missense_Mutation SNP G A A TCGA-D3-A2JA-06A-11D-A196-08 TCGA-D3-A2JA-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx f961ddcc-fb01-4ad1-974e-ccb2656a328e a6cc66c4-23a1-43c8-9989-be2c10aa4f63 g.chr8:110451278G>A uc003yne.3 + 31 4017 c.3913G>A c.(3913-3915)Gat>Aat p.D1305N NM_177531 NP_803875 Q86WI1 PKHL1_HUMAN Homo sapiens polycystic kidney and hepatic disease 1 (autosomal recessive)-like 1 (PKHD1L1), mRNA. 1305 IPT/TIG 6. 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) TGGAAAACATGATATCTATGT 0.403000 HNSCC(38;0.096) 98 105 0 0 0.003610 0 0 MUC16 94025 broad.mit.edu 37 19 9064474 9064474 + Missense_Mutation SNP G A A TCGA-D3-A2JA-06A-11D-A196-08 TCGA-D3-A2JA-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx f961ddcc-fb01-4ad1-974e-ccb2656a328e a6cc66c4-23a1-43c8-9989-be2c10aa4f63 g.chr19:9064474G>A uc002mkp.3 - 2 23176 c.22972C>T c.(22972-22974)Cca>Tca p.P7658S NM_024690 NP_078966 Q8WXI7 MUC16_HUMAN Homo sapiens mucin 16, cell surface associated (MUC16), mRNA. 7660 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 TCTGGGTGTGGAAATCCCTGA 0.517000 34 11 0 0 0.000978 0 0 RYR2 6262 broad.mit.edu 37 1 237791188 237791188 + Missense_Mutation SNP C G G TCGA-D3-A2JA-06A-11D-A196-08 TCGA-D3-A2JA-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx f961ddcc-fb01-4ad1-974e-ccb2656a328e a6cc66c4-23a1-43c8-9989-be2c10aa4f63 g.chr1:237791188C>G uc001hyl.1 + 40 6368 c.6248C>G c.(6247-6249)gCc>gGc p.A2083G NM_001035 NP_001026 Q92736 RYR2_HUMAN Homo sapiens ryanodine receptor 2 (cardiac) (RYR2), mRNA. 2083 4 X approximate repeats. 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) CTGGTGAGGGCCATGTTTGTG 0.547000 21 11 0 0 0.001368 0 0 OR6F1 343169 broad.mit.edu 37 1 247875240 247875240 + Missense_Mutation SNP G A A TCGA-D3-A2JA-06A-11D-A196-08 TCGA-D3-A2JA-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx f961ddcc-fb01-4ad1-974e-ccb2656a328e a6cc66c4-23a1-43c8-9989-be2c10aa4f63 g.chr1:247875240G>A uc001idj.1 - 0 818 c.818C>T c.(817-819)gCt>gTt p.A273V NM_001005286 NP_001005286 Q8NGZ6 OR6F1_HUMAN Homo sapiens olfactory receptor, family 6, subfamily F, member 1 (OR6F1), mRNA. 273 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity breast(1)|kidney(1)|large_intestine(5)|lung(34)|skin(2)|stomach(2)|upper_aerodigestive_tract(2) 47 all_cancers(71;3.24e-05)|all_epithelial(71;1.3e-05)|Breast(184;0.0149)|Ovarian(71;0.0377)|all_lung(81;0.0662)|Lung NSC(105;0.0724) OV - Ovarian serous cystadenocarcinoma(106;0.0168) GACGTGGACAGCTTTGATCAG 0.478000 57 39 0 0 0.004878 0 0 C19orf63 284361 broad.mit.edu 37 19 50983964 50983964 + Missense_Mutation SNP G A A TCGA-D3-A2JA-06A-11D-A196-08 TCGA-D3-A2JA-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx f961ddcc-fb01-4ad1-974e-ccb2656a328e a6cc66c4-23a1-43c8-9989-be2c10aa4f63 g.chr19:50983964G>A uc002psl.3 + 4 595 c.529G>A c.(529-531)Gac>Aac p.D177N C19orf63_uc021uyd.1_Non-coding_Transcript|C19orf63_uc002psk.3_Missense_Mutation_p.D177N NM_206538 NP_996261 Q5UCC4 INM02_HUMAN Homo sapiens chromosome 19 open reading frame 63 (C19orf63), transcript variant HSM1, mRNA. 177 extracellular region|integral to membrane breast(1)|lung(1) 2 all_neural(266;0.057) OV - Ovarian serous cystadenocarcinoma(262;0.00733)|GBM - Glioblastoma multiforme(134;0.0252) GGAGGACGTGGACCTGGAGCT 0.711000 12 4 0 0 0.000248 0 0 FLJ00285 0 broad.mit.edu 37 16 15224550 15224550 + Missense_Mutation SNP G A A TCGA-D3-A2JA-06A-11D-A196-08 TCGA-D3-A2JA-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx f961ddcc-fb01-4ad1-974e-ccb2656a328e a6cc66c4-23a1-43c8-9989-be2c10aa4f63 g.chr16:15224550G>A uc002ddh.2 - 1 723 c.331C>T c.(331-333)Cgc>Tgc p.R111C PDXDC1_uc002ddc.3_Intron|FLJ00285_uc010uzs.1_Non-coding_Transcript|FLJ00285_uc002ddi.3_5'UTR|FLJ00285_uc010uzt.2_Missense_Mutation_p.R111C RecName: Full=GPS, PLAT and transmembrane domain-containing protein FLJ00285; GACTCTGGGCGGATCCTCCTG 0.677000 25 6 0 0 0.001168 0 0 PTCHD2 57540 broad.mit.edu 37 1 11580888 11580888 + Missense_Mutation SNP C T T TCGA-D3-A2JA-06A-11D-A196-08 TCGA-D3-A2JA-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx f961ddcc-fb01-4ad1-974e-ccb2656a328e a6cc66c4-23a1-43c8-9989-be2c10aa4f63 g.chr1:11580888C>T uc001ash.4 + 9 2483 c.2345C>T c.(2344-2346)tCc>tTc p.S782F PTCHD2_uc001asi.1_Missense_Mutation_p.S782F NM_020780 NP_065831 Q9P2K9 PTHD2_HUMAN Homo sapiens patched domain containing 2 (PTCHD2), mRNA. 782 cholesterol homeostasis|regulation of lipid transport|smoothened signaling pathway endoplasmic reticulum|integral to membrane|nuclear membrane hedgehog receptor activity NS(3)|breast(2)|endometrium(9)|kidney(4)|large_intestine(5)|lung(34)|ovary(3)|pancreas(1)|prostate(6)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(3) 76 Ovarian(185;0.249) Lung NSC(185;4.16e-05)|all_lung(284;4.76e-05)|Renal(390;0.000147)|Breast(348;0.00093)|Colorectal(325;0.00205)|Hepatocellular(190;0.00913)|Ovarian(437;0.00965)|Myeloproliferative disorder(586;0.0255) UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;3.13e-07)|COAD - Colon adenocarcinoma(227;4.83e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000325)|Kidney(185;0.000877)|KIRC - Kidney renal clear cell carcinoma(229;0.00273)|STAD - Stomach adenocarcinoma(313;0.00766)|READ - Rectum adenocarcinoma(331;0.0549) GAGGGCATCTCCTGCATCACC 0.637000 10 11 0 0 0.008291 0 0 SF3A2 8175 broad.mit.edu 37 19 2246990 2246990 + Missense_Mutation SNP C T T TCGA-D3-A2JA-06A-11D-A196-08 TCGA-D3-A2JA-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx f961ddcc-fb01-4ad1-974e-ccb2656a328e a6cc66c4-23a1-43c8-9989-be2c10aa4f63 g.chr19:2246990C>T uc002lvg.3 + 6 637 c.515C>T c.(514-516)gCc>gTc p.A172V AMH_uc002lvh.2_5'Flank NM_007165 NP_009096 Q15428 SF3A2_HUMAN Homo sapiens splicing factor 3a, subunit 2, 66kDa (SF3A2), mRNA. 172 nuclear mRNA 3'-splice site recognition catalytic step 2 spliceosome|nucleoplasm|small nuclear ribonucleoprotein complex nucleic acid binding|zinc ion binding NS(1)|large_intestine(1)|lung(2) 4 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) CTGCTCATGGCCGCCGAGCCC 0.637000 63 14 0 0 0.007413 0 0 APLNR 187 broad.mit.edu 37 11 57003509 57003509 + Missense_Mutation SNP G A A TCGA-D3-A2JA-06A-11D-A196-08 TCGA-D3-A2JA-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx f961ddcc-fb01-4ad1-974e-ccb2656a328e a6cc66c4-23a1-43c8-9989-be2c10aa4f63 g.chr11:57003509G>A uc001njo.3 - 0 1419 c.970C>T c.(970-972)Ctc>Ttc p.L324F APLNR_uc001njn.4_Non-coding_Transcript NM_005161 NP_005152 P35414 APJ_HUMAN Homo sapiens apelin receptor (APLNR), transcript variant 1, mRNA. 324 integral to plasma membrane G-protein coupled receptor activity breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(14)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1) 32 CCACAGCAGAGCATGGAGGTG 0.642000 28 14 0 0 0.002450 0 0 ATP8B3 148229 broad.mit.edu 37 19 1785647 1785647 + Missense_Mutation SNP C T T TCGA-D3-A2JA-06A-11D-A196-08 TCGA-D3-A2JA-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx f961ddcc-fb01-4ad1-974e-ccb2656a328e a6cc66c4-23a1-43c8-9989-be2c10aa4f63 g.chr19:1785647C>T uc002ltw.3 - 25 3448 c.3214G>A c.(3214-3216)Gag>Aag p.E1072K ATP8B3_uc002ltv.3_Missense_Mutation_p.E1035K|ATP8B3_uc002ltx.3_Non-coding_Transcript NM_138813 NP_620168 O60423 AT8B3_HUMAN Homo sapiens ATPase, aminophospholipid transporter, class I, type 8B, member 3 (ATP8B3), transcript variant 1, mRNA. 1072 ATP biosynthetic process ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|magnesium ion binding|phospholipid-translocating ATPase activity central_nervous_system(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(1)|lung(9)|ovary(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3) 23 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) TTGAAGAGCTCGTCCTTCTGC 0.607000 24 11 0 0 0.001855 0 0 ATF7 11016 broad.mit.edu 37 12 53918499 53918499 + Missense_Mutation SNP C T T TCGA-D3-A2JA-06A-11D-A196-08 TCGA-D3-A2JA-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx f961ddcc-fb01-4ad1-974e-ccb2656a328e a6cc66c4-23a1-43c8-9989-be2c10aa4f63 g.chr12:53918499C>T uc001sdy.3 - 8 1028 c.1007G>A c.(1006-1008)cGc>cAc p.R336H ATF7_uc010sok.1_Non-coding_Transcript|ATF7_uc001sdz.3_Missense_Mutation_p.R325H|ATF7_uc010sol.2_Missense_Mutation_p.R304H NM_001130059 NP_001123531 P17544 ATF7_HUMAN Homo sapiens activating transcription factor 7 (ATF7), transcript variant 1, mRNA. 336 Essential for binding adenovirus 2 E1A. interspecies interaction between organisms cytoplasm|nuclear periphery|nucleoplasm protein dimerization activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding endometrium(2)|kidney(1)|large_intestine(2)|lung(1)|ovary(1)|skin(1)|urinary_tract(1) 9 ATCTACTGTGCGCCGCCGTCG 0.602000 17 7 0 0 0.001984 0 0 PARL 55486 broad.mit.edu 37 3 183551569 183551569 + Silent SNP G A A TCGA-D3-A2JA-06A-11D-A196-08 TCGA-D3-A2JA-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx f961ddcc-fb01-4ad1-974e-ccb2656a328e a6cc66c4-23a1-43c8-9989-be2c10aa4f63 g.chr3:183551569G>A uc003fmd.3 - 7 932 c.873C>T c.(871-873)atC>atT p.I291I PARL_uc003fme.3_Silent_p.I241I NM_018622 NP_061092 Q9H300 PARL_HUMAN Homo sapiens presenilin associated, rhomboid-like (PARL), nuclear gene encoding mitochondrial protein, transcript variant 1, mRNA. 291 proteolysis integral to membrane|mitochondrial inner membrane|nucleus serine-type endopeptidase activity endometrium(2)|large_intestine(3)|liver(1)|lung(6)|prostate(1)|skin(1)|stomach(2)|urinary_tract(1) 17 all_cancers(143;6.55e-10)|Ovarian(172;0.0303) all cancers(12;2.21e-41)|Epithelial(37;1.34e-36)|OV - Ovarian serous cystadenocarcinoma(80;6.48e-22) TCCCTTCTGGGATCTTAGTGC 0.478000 67 19 0 0 0.002299 0 0 RNF103 7844 broad.mit.edu 37 2 86839319 86839319 + Missense_Mutation SNP T A A TCGA-D3-A2JA-06A-11D-A196-08 TCGA-D3-A2JA-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx f961ddcc-fb01-4ad1-974e-ccb2656a328e a6cc66c4-23a1-43c8-9989-be2c10aa4f63 g.chr2:86839319T>A uc002srn.3 - 2 1436 c.445A>T c.(445-447)Ata>Tta p.I149L RNF103_uc010ytl.2_Intron|RNF103_uc002srm.3_Missense_Mutation_p.I10L|RNF103_uc021vkg.1_Missense_Mutation_p.I145L|BC066991_uc002sro.3_Intron NM_005667 NP_005658 O00237 RN103_HUMAN Homo sapiens ring finger protein 103 (RNF103), transcript variant 1, mRNA. 149 ER-associated protein catabolic process|central nervous system development endoplasmic reticulum membrane|integral to membrane protein binding|ubiquitin-protein ligase activity|zinc ion binding central_nervous_system(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(7)|lung(7)|skin(2) 25 CCTGTACGTATTCCAAATCTT 0.378000 77 23 0 0 0.003330 0 0 ZSCAN1 284312 broad.mit.edu 37 19 58565009 58565009 + Nonsense_Mutation SNP C T T TCGA-D3-A2JA-06A-11D-A196-08 TCGA-D3-A2JA-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx f961ddcc-fb01-4ad1-974e-ccb2656a328e a6cc66c4-23a1-43c8-9989-be2c10aa4f63 g.chr19:58565009C>T uc002qrc.1 + 5 1064 c.817C>T c.(817-819)Caa>Taa p.Q273* NM_182572 NP_872378 Q8NBB4 ZSCA1_HUMAN Homo sapiens zinc finger and SCAN domain containing 1 (ZSCAN1), mRNA. 273 viral reproduction nucleus DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding NS(1)|breast(3)|central_nervous_system(2)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(5)|lung(25)|ovary(2)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(2) 48 Colorectal(82;5.46e-05)|all_neural(62;0.0182)|Breast(46;0.0389)|Ovarian(87;0.0443)|Renal(1328;0.157) UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0152) AGGTGGTACCCAAGAGGCTGT 0.627000 65 12 0 0 0.002450 0 0 SV2B 9899 broad.mit.edu 37 15 91769874 91769874 + Silent SNP C T T rs148654261 TCGA-D3-A2JA-06A-11D-A196-08 TCGA-D3-A2JA-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx f961ddcc-fb01-4ad1-974e-ccb2656a328e a6cc66c4-23a1-43c8-9989-be2c10aa4f63 g.chr15:91769874C>T uc002bqv.3 + 2 1272 c.381C>T c.(379-381)ttC>ttT p.F127F SV2B_uc002bqt.3_Silent_p.F127F|SV2B_uc002bqu.4_Non-coding_Transcript|SV2B_uc010uqv.2_Intron NM_014848 NP_055663 Q7L1I2 SV2B_HUMAN Homo sapiens synaptic vesicle glycoprotein 2B (SV2B), transcript variant 1, mRNA. 127 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) TGGAAGTGTTCGTGGTGAGTT 0.512000 457 206 0 0 0.003610 0 0 TTC29 83894 broad.mit.edu 37 4 147830247 147830248 + Missense_Mutation DNP CC TT TT TCGA-D3-A2JA-06A-11D-A196-08 TCGA-D3-A2JA-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx f961ddcc-fb01-4ad1-974e-ccb2656a328e a6cc66c4-23a1-43c8-9989-be2c10aa4f63 g.chr4:147830247_147830248CC>TT uc003ikx.4 - 5 658_659 c.408_409GG>AA c.(406-411)ctggag>ctAAag p.E137K TTC29_uc003ikw.4_Missense_Mutation_p.E111K|TTC29_uc010ipc.3_Non-coding_Transcript|TTC29_uc010ipd.1_Missense_Mutation_p.E111K NM_031956 NP_114162 Q8NA56 TTC29_HUMAN Homo sapiens tetratricopeptide repeat domain 29 (TTC29), mRNA. 111 binding breast(2)|cervix(2)|endometrium(3)|kidney(4)|large_intestine(6)|lung(5)|ovary(1)|pancreas(1)|prostate(1)|skin(1) 26 all_hematologic(180;0.151) GGCTGCTCCTCCAGGGGCTTCT 0.574000 66 24 0 0 0.004672 0 0 NDUFAF2 91942 broad.mit.edu 37 5 60369027 60369027 + Missense_Mutation SNP C T T TCGA-D3-A2JA-06A-11D-A196-08 TCGA-D3-A2JA-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx f961ddcc-fb01-4ad1-974e-ccb2656a328e a6cc66c4-23a1-43c8-9989-be2c10aa4f63 g.chr5:60369027C>T uc003jsp.4 + 1 330 c.203C>T c.(202-204)cCa>cTa p.P68L NDUFAF2_uc003jso.4_Intron NM_174889 NP_777549 Q8N183 MIMIT_HUMAN Homo sapiens NADH dehydrogenase (ubiquinone) 1 alpha subcomplex, assembly factor 2 (NDUFAF2), nuclear gene encoding mitochondrial protein, mRNA. 68 membrane|mitochondrion NADH dehydrogenase (ubiquinone) activity|electron carrier activity central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(1)|ovary(1) 6 Lung NSC(810;3.36e-05)|Prostate(74;0.0225)|Ovarian(174;0.17)|Breast(144;0.237) GGGGATATTCCAACAGAATGG 0.313000 115 37 0 0 0.006999 0 0 DDX60 55601 broad.mit.edu 37 4 169229235 169229235 + Silent SNP G A A TCGA-D3-A2JA-06A-11D-A196-08 TCGA-D3-A2JA-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx f961ddcc-fb01-4ad1-974e-ccb2656a328e a6cc66c4-23a1-43c8-9989-be2c10aa4f63 g.chr4:169229235G>A uc003irp.3 - 3 478 c.186C>T c.(184-186)ctC>ctT p.L62L NM_017631 NP_060101 Q8IY21 DDX60_HUMAN Homo sapiens DEAD (Asp-Glu-Ala-Asp) box polypeptide 60 (DDX60), mRNA. 62 ATP binding|ATP-dependent helicase activity|RNA binding breast(1)|central_nervous_system(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(15)|liver(1)|lung(21)|ovary(1)|pancreas(2)|prostate(1)|skin(4)|urinary_tract(4) 63 Prostate(90;0.00876)|Renal(120;0.0183)|all_neural(102;0.0837)|Melanoma(52;0.132) GBM - Glioblastoma multiforme(119;0.0485) AGAAGAAATGGAGGTTCTGCC 0.343000 78 17 0 0 0.007413 0 0 RAPGEF6 51735 broad.mit.edu 37 5 130764859 130764859 + Missense_Mutation SNP G A A TCGA-D3-A2JA-06A-11D-A196-08 TCGA-D3-A2JA-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx f961ddcc-fb01-4ad1-974e-ccb2656a328e a6cc66c4-23a1-43c8-9989-be2c10aa4f63 g.chr5:130764859G>A uc003kvn.2 - 26 4722 c.4516C>T c.(4516-4518)Ccc>Tcc p.P1506S RAPGEF6_uc003kvp.2_Missense_Mutation_p.P1556S|RAPGEF6_uc003kvo.2_Intron|RAPGEF6_uc010jdi.2_Missense_Mutation_p.P1514S|RAPGEF6_uc010jdj.2_Intron|RAPGEF6_uc003kvm.2_Missense_Mutation_p.P429S NM_016340 NP_057424 Q8TEU7 RPGF6_HUMAN Homo sapiens Rap guanine nucleotide exchange factor (GEF) 6 (RAPGEF6), transcript variant 2, mRNA. 1506 Ras protein signal transduction|regulation of GTPase activity|regulation of small GTPase mediated signal transduction cytoplasm|plasma membrane GTP-dependent protein binding|Ras GTPase binding|guanyl-nucleotide exchange factor activity breast(2)|central_nervous_system(1)|endometrium(2)|kidney(4)|large_intestine(7)|lung(10)|ovary(3)|skin(1)|stomach(1) 31 KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365) Lung(113;0.0721) GGAGGAGTGGGAGGTGGCTCC 0.448000 45 22 0 0 0.005443 0 0 C15orf53 400359 broad.mit.edu 37 15 38990376 38990376 + Missense_Mutation SNP C T T TCGA-D3-A2JA-06A-11D-A196-08 TCGA-D3-A2JA-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx f961ddcc-fb01-4ad1-974e-ccb2656a328e a6cc66c4-23a1-43c8-9989-be2c10aa4f63 g.chr15:38990376C>T uc001zkf.1 + 1 180 c.170C>T c.(169-171)aCc>aTc p.T57I NM_207444 NP_997327 Q8NAA6 CO053_HUMAN Homo sapiens chromosome 15 open reading frame 53 (C15orf53), mRNA. 57 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) gaacatctaacccagggccac 0.428000 28 9 0 0 0.004482 0 0 MAML3 55534 broad.mit.edu 37 4 140811906 140811906 + Silent SNP G A A TCGA-D3-A2JA-06A-11D-A196-08 TCGA-D3-A2JA-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx f961ddcc-fb01-4ad1-974e-ccb2656a328e a6cc66c4-23a1-43c8-9989-be2c10aa4f63 g.chr4:140811906G>A uc021xsg.1 - 1 1436 c.684C>T c.(682-684)ccC>ccT p.P228P MAML3_uc011chd.1_Intron NM_018717 NP_061187 Q96JK9 MAML3_HUMAN Homo sapiens mastermind-like 3 (Drosophila) (MAML3), mRNA. 228 Notch signaling pathway|positive regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent nuclear speck transcription coactivator activity breast(1)|endometrium(7)|kidney(2)|large_intestine(1)|lung(9)|ovary(1)|prostate(2)|urinary_tract(2) 25 all_hematologic(180;0.162) TGTTCTGCAAGGGCAAAGAAG 0.483000 42 15 0 0 0.003163 0 0 CYP2B7P1 1556 broad.mit.edu 37 19 41447372 41447372 + Missense_Mutation SNP G A A TCGA-D3-A2JA-06A-11D-A196-08 TCGA-D3-A2JA-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx f961ddcc-fb01-4ad1-974e-ccb2656a328e a6cc66c4-23a1-43c8-9989-be2c10aa4f63 g.chr19:41447372G>A uc010ehh.1 + 4 825 c.817G>A c.(817-819)Gaa>Aaa p.E273K CYP2A7_uc002opo.3_Intron|CYP2B7P1_uc002opq.3_Non-coding_Transcript Homo sapiens cytochrome P450, family 2, subfamily B, polypeptide 7 pseudogene 1 (CYP2B7P1), non-coding RNA. NS(1)|endometrium(6)|kidney(1)|lung(2)|ovary(1)|skin(1) 12 GCTCCACATGGAAAAAGTGGG 0.567000 50 31 0 0 0.008361 0 0 CKAP5 9793 broad.mit.edu 37 11 46797807 46797807 + Missense_Mutation SNP C T T TCGA-D3-A2JA-06A-11D-A196-08 TCGA-D3-A2JA-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx f961ddcc-fb01-4ad1-974e-ccb2656a328e a6cc66c4-23a1-43c8-9989-be2c10aa4f63 g.chr11:46797807C>T uc001ndi.2 - 23 3115 c.2989G>A c.(2989-2991)Gag>Aag p.E997K CKAP5_uc009ylg.1_Missense_Mutation_p.E883K|CKAP5_uc001ndj.2_Missense_Mutation_p.E997K NM_001008938 NP_001008938 Q14008 CKAP5_HUMAN Homo sapiens cytoskeleton associated protein 5 (CKAP5), transcript variant 1, mRNA. 997 G2/M transition of mitotic cell cycle|RNA transport|cell division|centrosome organization|establishment or maintenance of microtubule cytoskeleton polarity|mitotic prometaphase|spindle organization centrosome|cytosol protein binding breast(1)|cervix(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(7)|lung(13)|ovary(1)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1) 43 ATACTAACCTCTTGCCTCAAG 0.408000 19 17 0 0 0.006122 0 0 MGAT4A 11320 broad.mit.edu 37 2 99342746 99342746 + Missense_Mutation SNP G A A TCGA-D3-A2JA-06A-11D-A196-08 TCGA-D3-A2JA-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx f961ddcc-fb01-4ad1-974e-ccb2656a328e a6cc66c4-23a1-43c8-9989-be2c10aa4f63 g.chr2:99342746G>A uc002sze.3 - 1 364 c.50C>T c.(49-51)tCc>tTc p.S17F MGAT4A_uc010fil.3_5'UTR NM_012214 NP_036346 Q9UM21 MGT4A_HUMAN Homo sapiens mannosyl (alpha-1,3-)-glycoprotein beta-1,4-N-acetylglucosaminyltransferase, isozyme A (MGAT4A), transcript variant 1, mRNA. 17 N-glycan processing|post-translational protein modification|protein N-linked glycosylation via asparagine Golgi membrane|extracellular region|integral to membrane alpha-1,3-mannosylglycoprotein 4-beta-N-acetylglucosaminyltransferase activity|metal ion binding NS(1)|breast(2)|endometrium(2)|kidney(2)|large_intestine(3)|lung(7)|skin(1)|stomach(1) 19 AGTAAGGAAGGAAGTGATAAA 0.408000 32 13 0 0 0.006122 0 0 GATAD1 57798 broad.mit.edu 37 7 92080050 92080050 + Silent SNP C T T TCGA-D3-A2JA-06A-11D-A196-08 TCGA-D3-A2JA-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx f961ddcc-fb01-4ad1-974e-ccb2656a328e a6cc66c4-23a1-43c8-9989-be2c10aa4f63 g.chr7:92080050C>T uc003ulx.1 + 2 690 c.411C>T c.(409-411)atC>atT p.I137I NM_021167 NP_066990 Q8WUU5 GATD1_HUMAN Homo sapiens GATA zinc finger domain containing 1 (GATAD1), mRNA. 137 sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding endometrium(1)|kidney(2)|lung(3) 6 all_cancers(62;1.63e-10)|all_epithelial(64;8.33e-10)|Breast(17;0.00311)|all_lung(186;0.0498)|Lung NSC(181;0.0676) STAD - Stomach adenocarcinoma(171;4.51e-05)|GBM - Glioblastoma multiforme(5;8.83e-05)|all cancers(6;0.000136)|Lung(22;0.123)|Epithelial(20;0.179)|LUSC - Lung squamous cell carcinoma(200;0.225) CCACTATAATCACTGCAGAAT 0.388000 39 15 0 0 0.007413 0 0 PCLO 27445 broad.mit.edu 37 7 82595691 82595691 + Missense_Mutation SNP G A A TCGA-D3-A2JA-06A-11D-A196-08 TCGA-D3-A2JA-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx f961ddcc-fb01-4ad1-974e-ccb2656a328e a6cc66c4-23a1-43c8-9989-be2c10aa4f63 g.chr7:82595691G>A uc003uhx.2 - 3 3702 c.3413C>T c.(3412-3414)cCt>cTt p.P1138L PCLO_uc003uhv.2_Missense_Mutation_p.P1138L NM_033026 NP_149015 Q9Y6V0 PCLO_HUMAN Homo sapiens piccolo (presynaptic cytomatrix protein) (PCLO), transcript variant 1, mRNA. 1077 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 TGTAGGAACAGGCATAGGAGA 0.428000 69 32 0 0 0.002096 0 0 CYP3A4 1576 broad.mit.edu 37 7 99375658 99375658 + Missense_Mutation SNP C T T TCGA-D3-A2JA-06A-11D-A196-08 TCGA-D3-A2JA-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx f961ddcc-fb01-4ad1-974e-ccb2656a328e a6cc66c4-23a1-43c8-9989-be2c10aa4f63 g.chr7:99375658C>T uc003urv.2 - 2 318 c.211G>A c.(211-213)Gtg>Atg p.V71M CYP3A4_uc003urw.2_Missense_Mutation_p.V71M|CYP3A4_uc011kiz.2_Missense_Mutation_p.V71M NM_017460 NP_059488 P08684 CP3A4_HUMAN Homo sapiens cytochrome P450, family 3, subfamily A, polypeptide 4 (CYP3A4), transcript variant 1, mRNA. 71 alkaloid catabolic process|androgen metabolic process|exogenous drug catabolic process|heterocycle metabolic process|monoterpenoid metabolic process|oxidative demethylation|steroid catabolic process|xenobiotic metabolic process cell surface|endoplasmic reticulum membrane|integral to membrane|microsome albendazole monooxygenase activity|caffeine oxidase activity|electron carrier activity|enzyme binding|heme binding|oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen, reduced flavin or flavoprotein as one donor, and incorporation of one atom of oxygen|oxygen binding|quinine 3-monooxygenase activity|steroid binding|taurochenodeoxycholate 6alpha-hydroxylase activity|testosterone 6-beta-hydroxylase activity|vitamin D 24-hydroxylase activity|vitamin D3 25-hydroxylase activity breast(3)|central_nervous_system(3)|kidney(1)|large_intestine(2)|lung(5)|ovary(1)|pancreas(1)|skin(2) 18 Lung NSC(181;0.0144)|Esophageal squamous(72;0.0166)|all_lung(186;0.0228) Albendazole(DB00518)|Alclometasone(DB00240)|Alfentanil(DB00802)|Alfuzosin(DB00346)|Aliskiren(DB01258)|Almotriptan(DB00918)|Alosetron(DB00969)|Alprazolam(DB00404)|Amlodipine(DB00381)|Amprenavir(DB00701)|Aprepitant(DB00673)|Aripiprazole(DB01238)|Astemizole(DB00637)|Atazanavir(DB01072)|Atorvastatin(DB01076)|Benazepril(DB00542)|Bepridil(DB01244)|Betamethasone(DB00443)|Bexarotene(DB00307)|Bortezomib(DB00188)|Bosentan(DB00559)|Bromocriptine(DB01200)|Budesonide(DB01222)|Bupivacaine(DB00297)|Buprenorphine(DB00921)|Buspirone(DB00490)|Busulfan(DB01008)|Carbamazepine(DB00564)|Cevimeline(DB00185)|Chlorpheniramine(DB01114)|Ciclesonide(DB01410)|Cilostazol(DB01166)|Cinacalcet(DB01012)|Cisapride(DB00604)|Clarithromycin(DB01211)|Clindamycin(DB01190)|Clofibrate(DB00636)|Clonazepam(DB01068)|Clopidogrel(DB00758)|Cocaine(DB00907)|Conivaptan(DB00872)|Conjugated Estrogens(DB00286)|Cyproterone(DB04839)|Darifenacin(DB00496)|Darunavir(DB01264)|Dasatinib(DB01254)|Delavirdine(DB00705)|Desogestrel(DB00304)|Dexamethasone(DB01234)|Diazepam(DB00829)|Dihydroergotamine(DB00320)|Diltiazem(DB00343)|Diphenhydramine(DB01075)|Disopyramide(DB00280)|Dofetilide(DB00204)|Dolasetron(DB00757)|Domperidone(DB01184)|Donepezil(DB00843)|Doxorubicin(DB00997)|Drospirenone(DB01395)|Dutasteride(DB01126)|Efavirenz(DB00625)|Eletriptan(DB00216)|Enalapril(DB00584)|Epirubicin(DB00445)|Eplerenone(DB00700)|Ergotamine(DB00696)|Erlotinib(DB00530)|Erythromycin(DB00199)|Escitalopram(DB01175)|Esomeprazole(DB00736)|Estazolam(DB01215)|Eszopiclone(DB00402)|Ethinyl Estradiol(DB00977)|Ethosuximide(DB00593)|Etonogestrel(DB00294)|Etoposide(DB00773)|Etoricoxib(DB01628)|Exemestane(DB00990)|Felodipine(DB01023)|Fentanyl(DB00813)|Fexofenadine(DB00950)|Finasteride(DB01216)|Fluconazole(DB00196)|Flumethasone Pivalate(DB00663)|Flunisolide(DB00180)|Fluocinolone Acetonide(DB00591)|Fluocinonide(DB01047)|Fluorometholone(DB00324)|Flurandrenolide(DB00846)|Fluticasone Propionate(DB00588)|Fosamprenavir(DB01319)|Fulvestrant(DB00947)|Galantamine(DB00674)|Gefitinib(DB00317)|Gemfibrozil(DB01241)|Granisetron(DB00889)|Grepafloxacin(DB00365)|Halofantrine(DB01218)|Hydrocodone(DB00956)|Hydrocortamate(DB00769)|Hydrocortisone(DB00741)|Hydromorphone(DB00327)|Imatinib(DB00619)|Indinavir(DB00224)|Ipratropium(DB00332)|Irinotecan(DB00762)|Isosorbide Dinitrate(DB00883)|Isosorbide Mononitrate(DB01020)|Isradipine(DB00270)|Itraconazole(DB01167)|Ketoconazole(DB01026)|Lapatinib(DB01259)|Lercanidipine(DB00528)|Letrozole(DB01006)|Levobupivacaine(DB01002)|Levomethadyl Acetate(DB01227)|Levothyroxine(DB00451)|Lomustine(DB01206)|Loperamide(DB00836)|Lopinavir(DB01601)|Loratadine(DB00455)|Losartan(DB00678)|Lovastatin(DB00227)|Maraviroc(DB04835)|Marinol(DB00470)|Mebendazole(DB00643)|Medroxyprogesterone(DB00603)|Methadone(DB00333)|Methylprednisolone(DB00959)|Metyrapone(DB01011)|Mibefradil(DB01388)|Midazolam(DB00683)|Mifepristone(DB00834)|Mirtazapine(DB00370)|Modafinil(DB00745)|Mometasone(DB00764)|Montelukast(DB00471)|Nateglinide(DB00731)|Nefazodone(DB01149)|Nelfinavir(DB00220)|Nevirapine(DB00238)|Nicardipine(DB00622)|Nifedipine(DB01115)|Nimodipine(DB00393)|Nisoldipine(DB00401)|Nitrendipine(DB01054)|Norethindrone(DB00717)|Norgestrel(DB00506)|Nystatin(DB00646)|Ondansetron(DB00904)|Oxybutynin(DB01062)|Paclitaxel(DB01229)|Paliperidone(DB01267)|Palonosetron(DB00377)|Pantoprazole(DB00213)|Paricalcitol(DB00910)|Phenmetrazine(DB00830)|Pimecrolimus(DB00337)|Pimozide(DB01100)|Pioglitazone(DB01132)|Posaconazole(DB01263)|Pranlukast(DB01411)|Prednisolone(DB00860)|Prednisone(DB00635)|Prochlorperazine(DB00433)|Quetiapine(DB01224)|Quinapril(DB00881)|Quinine(DB00468)|Rabeprazole(DB01129)|Ranolazine(DB00243)|Reboxetine(DB00234)|Retapamulin(DB01256)|Rifabutin(DB00615)|Rifampin(DB01045)|Rimonabant(DB06155)|Ritonavir(DB00503)|Rofecoxib(DB00533)|Roxithromycin(DB00778)|Salmeterol(DB00938)|Saquinavir(DB01232)|Sertindole(DB06144)|Sibutramine(DB01105)|Simvastatin(DB00641)|Sirolimus(DB00877)|Sitagliptin(DB01261)|Solifenacin(DB01591)|Sorafenib(DB00398)|Sunitinib(DB01268)|Tacrolimus(DB00864)|Tadalafil(DB00820)|Tamoxifen(DB00675)|Telithromycin(DB00976)|Terconazole(DB00251)|Terfenadine(DB00342)|Testosterone(DB00624)|Tiagabine(DB00906)|Ticlopidine(DB00208)|Tinidazole(DB00911)|Tiotropium(DB01409)|Tipranavir(DB00932)|Toremifene(DB00539)|Triazolam(DB00897)|Trimetrexate(DB01157)|Troglitazone(DB00197)|Valdecoxib(DB00580)|Vardenafil(DB00862)|Vinblastine(DB00570)|Vincristine(DB00541)|Vindesine(DB00309)|Vinorelbine(DB00361)|Voriconazole(DB00582)|Zaleplon(DB00962)|Zileuton(DB00744)|Ziprasidone(DB00246)|Zolpidem(DB00425)|Zonisamide(DB00909) CACCCCCACACTTTTCCATAC 0.388000 30 20 0 0 0.003954 0 0 CUX2 23316 broad.mit.edu 37 12 111749989 111749989 + Silent SNP C T T TCGA-D3-A2JA-06A-11D-A196-08 TCGA-D3-A2JA-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx f961ddcc-fb01-4ad1-974e-ccb2656a328e a6cc66c4-23a1-43c8-9989-be2c10aa4f63 g.chr12:111749989C>T uc001tsa.2 + 15 2140 c.1986C>T c.(1984-1986)atC>atT p.I662I NM_015267 NP_056082 O14529 CUX2_HUMAN Homo sapiens cut-like homeobox 2 (CUX2), mRNA. 662 nucleus sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity NS(1)|breast(2)|central_nervous_system(1)|endometrium(2)|large_intestine(9)|lung(24)|ovary(5)|prostate(4)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(2) 55 AGAAGGAGATCGAGTCGCAGA 0.612000 10 4 0 0 0.000248 0 0 TP73 7161 broad.mit.edu 37 1 3638759 3638759 + Missense_Mutation SNP G A A TCGA-D3-A2JA-06A-11D-A196-08 TCGA-D3-A2JA-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx f961ddcc-fb01-4ad1-974e-ccb2656a328e a6cc66c4-23a1-43c8-9989-be2c10aa4f63 g.chr1:3638759G>A uc001akp.3 + 4 714 c.604G>A c.(604-606)Gac>Aac p.D202N TP73_uc021ofb.1_Missense_Mutation_p.D202N|TP73_uc021ofc.1_Missense_Mutation_p.D202N|TP73_uc021ofd.1_Missense_Mutation_p.D202N|TP73_uc021ofe.1_Missense_Mutation_p.D202N|TP73_uc021off.1_Missense_Mutation_p.D202N|TP73_uc010nzj.2_Missense_Mutation_p.D153N|TP73_uc021ofg.1_Missense_Mutation_p.D153N|TP73_uc021ofh.1_Missense_Mutation_p.D153N|TP73_uc021ofi.1_Missense_Mutation_p.D153N|TP73_uc001akr.3_Missense_Mutation_p.D153N|TP73_uc009vlk.2_Missense_Mutation_p.D153N|TP73_uc001aks.3_Missense_Mutation_p.D153N|TP73_uc010nzk.2_Missense_Mutation_p.D131N NM_005427 NP_001191121 O15350 P73_HUMAN Homo sapiens tumor protein p73 (TP73), transcript variant 1, mRNA. 202 DNA-binding (Potential). DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|cellular response to UV|mismatch repair|mitotic cell cycle G1/S transition DNA damage checkpoint|negative regulation of JUN kinase activity|negative regulation of neuron apoptosis|negative regulation of transcription from RNA polymerase II promoter|positive regulation of transcription, DNA-dependent|protein tetramerization|response to X-ray|response to gamma radiation chromatin|cytosol|transcription factor complex chromatin binding|damaged DNA binding|double-stranded DNA binding|metal ion binding|p53 binding|protein binding|sequence-specific DNA binding transcription factor activity|transcription factor binding|transcription regulatory region DNA binding|transcription repressor activity breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|lung(8)|ovary(1)|prostate(1) 20 all_cancers(77;0.0395)|Ovarian(185;0.0634)|Lung NSC(156;0.188)|all_lung(157;0.198) all_epithelial(116;7.42e-17)|all_lung(118;1.86e-06)|Lung NSC(185;0.000163)|Renal(390;0.00357)|Breast(487;0.00446)|Hepatocellular(190;0.0218)|Myeloproliferative disorder(586;0.0393)|Lung SC(97;0.109)|Ovarian(437;0.127) Epithelial(90;5.57e-38)|OV - Ovarian serous cystadenocarcinoma(86;1.87e-22)|GBM - Glioblastoma multiforme(42;5.72e-16)|Colorectal(212;2.22e-05)|COAD - Colon adenocarcinoma(227;8.48e-05)|Kidney(185;0.000539)|BRCA - Breast invasive adenocarcinoma(365;0.000868)|STAD - Stomach adenocarcinoma(132;0.0072)|KIRC - Kidney renal clear cell carcinoma(229;0.00751)|Lung(427;0.226) GCTCGGGAGGGACTTCAACGA 0.657000 37 11 0 0 0.000978 0 0 CD300A 11314 broad.mit.edu 37 17 72470746 72470746 + Missense_Mutation SNP C T T TCGA-D3-A2JA-06A-11D-A196-08 TCGA-D3-A2JA-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx f961ddcc-fb01-4ad1-974e-ccb2656a328e a6cc66c4-23a1-43c8-9989-be2c10aa4f63 g.chr17:72470746C>T uc002jkv.3 + 2 776 c.455C>T c.(454-456)tCa>tTa p.S152L CD300A_uc002jkw.3_Missense_Mutation_p.S39L|CD300A_uc010dfr.3_Missense_Mutation_p.S39L|CD300A_uc010dfs.3_Intron NM_007261 NP_009192 Q9UGN4 CLM8_HUMAN Homo sapiens CD300a molecule (CD300A), mRNA. 152 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 CCACCTGTATCATCCACTACC 0.527000 45 46 0 0 0.002852 0 0 EPHB6 2051 broad.mit.edu 37 7 142563272 142563272 + Missense_Mutation SNP C T T TCGA-D3-A2JA-06A-11D-A196-08 TCGA-D3-A2JA-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx f961ddcc-fb01-4ad1-974e-ccb2656a328e a6cc66c4-23a1-43c8-9989-be2c10aa4f63 g.chr7:142563272C>T uc011kst.2 + 7 1776 c.989C>T c.(988-990)cCc>cTc p.P330L EPHB6_uc011ksu.2_Missense_Mutation_p.P330L|EPHB6_uc003wbs.3_Missense_Mutation_p.P38L|EPHB6_uc003wbt.3_5'UTR|EPHB6_uc003wbu.3_Missense_Mutation_p.P38L|EPHB6_uc003wbv.3_5'Flank NM_004445 NP_004436 O15197 EPHB6_HUMAN Homo sapiens EPH receptor B6 (EPHB6), mRNA. 330 Cys-rich. extracellular region|integral to plasma membrane ATP binding|ephrin receptor activity NS(1)|breast(1)|central_nervous_system(4)|cervix(1)|endometrium(5)|kidney(4)|large_intestine(9)|lung(46)|ovary(2)|pancreas(2)|prostate(1)|skin(9)|stomach(1)|upper_aerodigestive_tract(1) 87 Melanoma(164;0.059) GGGAATGCTCCCTGCTCACCA 0.662000 29 15 0 0 0.004007 0 0 TIAM2 26230 broad.mit.edu 37 6 155451385 155451385 + Missense_Mutation SNP C T T TCGA-D3-A2JA-06A-11D-A196-08 TCGA-D3-A2JA-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx f961ddcc-fb01-4ad1-974e-ccb2656a328e a6cc66c4-23a1-43c8-9989-be2c10aa4f63 g.chr6:155451385C>T uc003qqb.3 + 5 2301 c.1028C>T c.(1027-1029)tCc>tTc p.S343F TIAM2_uc003qqe.3_Missense_Mutation_p.S343F NM_012454 NP_036586 Q8IVF5 TIAM2_HUMAN Homo sapiens T-cell lymphoma invasion and metastasis 2 (TIAM2), transcript variant 1, mRNA. 343 apoptosis|cellular lipid metabolic process|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction cytosol|filopodium|growth cone|lamellipodium Rho guanyl-nucleotide exchange factor activity|receptor signaling protein activity breast(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(20)|lung(21)|ovary(5)|prostate(1)|skin(2)|upper_aerodigestive_tract(4) 65 Ovarian(120;0.196) OV - Ovarian serous cystadenocarcinoma(155;8.1e-13)|BRCA - Breast invasive adenocarcinoma(81;0.0053) GATGTGCCCTCCAGAGTGGCA 0.562000 32 27 0 0 0.008361 0 0 BANK1 55024 broad.mit.edu 37 4 102951268 102951268 + Silent SNP G A A TCGA-D3-A2JA-06A-11D-A196-08 TCGA-D3-A2JA-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx f961ddcc-fb01-4ad1-974e-ccb2656a328e a6cc66c4-23a1-43c8-9989-be2c10aa4f63 g.chr4:102951268G>A uc003hvy.4 + 9 2020 c.1746G>A c.(1744-1746)gaG>gaA p.E582E BANK1_uc003hvx.4_Silent_p.E567E|BANK1_uc010ill.3_Silent_p.E449E|BANK1_uc003hvz.4_Silent_p.E552E NM_017935 NP_001077376 Q8NDB2 BANK1_HUMAN Homo sapiens B-cell scaffold protein with ankyrin repeats 1 (BANK1), transcript variant 1, mRNA. 582 B cell activation NS(1)|breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|liver(2)|lung(16)|ovary(2)|skin(2)|urinary_tract(1) 44 Hepatocellular(203;0.217) OV - Ovarian serous cystadenocarcinoma(123;2.7e-07) CTTTTGCTGAGATTGATGACA 0.403000 27 16 0 0 0.004007 0 0 COQ4 51117 broad.mit.edu 37 9 131094457 131094458 + Missense_Mutation DNP CC TT TT TCGA-D3-A2JA-06A-11D-A196-08 TCGA-D3-A2JA-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx f961ddcc-fb01-4ad1-974e-ccb2656a328e a6cc66c4-23a1-43c8-9989-be2c10aa4f63 g.chr9:131094457_131094458CC>TT uc004bur.4 + 4 775_776 c.428_429CC>TT c.(427-429)ccc>cTT p.P143L COQ4_uc010mxy.3_Missense_Mutation_p.P119L NM_016035 NP_057119 Q9Y3A0 COQ4_HUMAN Homo sapiens coenzyme Q4 homolog (S. cerevisiae) (COQ4), nuclear gene encoding mitochondrial protein, mRNA. 143 ubiquinone biosynthetic process mitochondrial inner membrane endometrium(4)|large_intestine(1)|lung(4) 9 ACCCGAGCACCCACCCGCTTCG 0.599000 4 3 0 0 0.004672 0 0 NCOR2 9612 broad.mit.edu 37 12 124856641 124856641 + Missense_Mutation SNP G A A TCGA-D3-A2JA-06A-11D-A196-08 TCGA-D3-A2JA-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx f961ddcc-fb01-4ad1-974e-ccb2656a328e a6cc66c4-23a1-43c8-9989-be2c10aa4f63 g.chr12:124856641G>A uc021rga.1 - 19 2851 c.2734C>T c.(2734-2736)Ccc>Tcc p.P912S NCOR2_uc021rgb.1_Missense_Mutation_p.P895S|NCOR2_uc010tbb.2_Missense_Mutation_p.P912S|NCOR2_uc010tbc.2_Missense_Mutation_p.P894S|NCOR2_uc021rgc.1_Missense_Mutation_p.P894S|NCOR2_uc010tba.2_Missense_Mutation_p.P912S|NCOR2_uc001ugj.1_Missense_Mutation_p.P912S NM_006312 NP_006303 Q9Y618 NCOR2_HUMAN Homo sapiens nuclear receptor corepressor 2 (NCOR2), transcript variant 1, mRNA. 912 cellular lipid metabolic process|negative regulation of transcription from RNA polymerase II promoter|regulation of cellular ketone metabolic process by negative regulation of transcription from an RNA polymerase II promoter|transcription, DNA-dependent nuclear body|nucleus|transcriptional repressor complex DNA binding|Notch binding|histone deacetylase binding|protein N-terminus binding|transcription corepressor activity breast(5)|central_nervous_system(2)|endometrium(7)|kidney(5)|large_intestine(7)|lung(28)|ovary(3)|pancreas(1)|prostate(3)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(2) 69 all_neural(191;0.0804)|Medulloblastoma(191;0.163) Epithelial(86;3.99e-05)|OV - Ovarian serous cystadenocarcinoma(86;9.14e-05)|all cancers(50;0.000402)|BRCA - Breast invasive adenocarcinoma(302;0.0764) CTGTCCTGGGGGGCGCCCGAG 0.711000 43 8 0 0 0.001855 0 0 PTPRN2 5799 broad.mit.edu 37 7 157903556 157903556 + Silent SNP G A A TCGA-D3-A2JA-06A-11D-A196-08 TCGA-D3-A2JA-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx f961ddcc-fb01-4ad1-974e-ccb2656a328e a6cc66c4-23a1-43c8-9989-be2c10aa4f63 g.chr7:157903556G>A uc003wno.3 - 9 1729 c.1608C>T c.(1606-1608)ctC>ctT p.L536L PTPRN2_uc003wnp.3_Silent_p.L519L|PTPRN2_uc003wnq.3_Intron|PTPRN2_uc003wnr.3_Silent_p.L498L|PTPRN2_uc011kwa.2_Silent_p.L559L NM_002847 NP_002838 Q92932 PTPR2_HUMAN Homo sapiens protein tyrosine phosphatase, receptor type, N polypeptide 2 (PTPRN2), transcript variant 1, mRNA. 536 integral to plasma membrane protein binding|transmembrane receptor protein tyrosine phosphatase activity p.L536L(2) 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) GCACCTGCAGGAGGCGGGCGA 0.662000 9 7 0 0 0.003080 0 0 IFNA1 3439 broad.mit.edu 37 9 21441071 21441071 + Missense_Mutation SNP G A A TCGA-D3-A2JA-06A-11D-A196-08 TCGA-D3-A2JA-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx f961ddcc-fb01-4ad1-974e-ccb2656a328e a6cc66c4-23a1-43c8-9989-be2c10aa4f63 g.chr9:21441071G>A uc003zpd.2 + 0 619 c.565G>A c.(565-567)Gaa>Aaa p.E189K NM_024013 NP_076918 P01562 IFNA1_HUMAN Homo sapiens interferon, alpha 1 (IFNA1), mRNA. 189 blood coagulation|regulation of type I interferon-mediated signaling pathway|response to virus|type I interferon-mediated signaling pathway extracellular space cytokine activity|interferon-alpha/beta receptor binding kidney(1)|large_intestine(1)|lung(3)|ovary(2) 7 Lung(24;7.66e-27)|LUSC - Lung squamous cell carcinoma(38;1.4e-13)|OV - Ovarian serous cystadenocarcinoma(39;0.0173) AAGGAGGAAGGAATAACATCT 0.408000 85 45 0 0 0.003610 0 0 AP2A2 161 broad.mit.edu 37 11 984647 984647 + Silent SNP C T T TCGA-D3-A2JA-06A-11D-A196-08 TCGA-D3-A2JA-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx f961ddcc-fb01-4ad1-974e-ccb2656a328e a6cc66c4-23a1-43c8-9989-be2c10aa4f63 g.chr11:984647C>T uc001lst.2 + 6 921 c.708C>T c.(706-708)atC>atT p.I236I AP2A2_uc009yco.2_Non-coding_Transcript|AP2A2_uc001lss.3_Silent_p.I236I NM_001242837 NP_001229766 O94973 AP2A2_HUMAN Homo sapiens adaptor-related protein complex 2, alpha 2 subunit (AP2A2), transcript variant 1, mRNA. 236 axon guidance|endocytosis|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|viral reproduction AP-2 adaptor complex|cytosol lipid binding|protein transporter activity breast(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(6)|ovary(2) 21 all_cancers(49;9.46e-06)|Breast(177;0.00257)|all_epithelial(84;0.0027)|Ovarian(85;0.0228)|Medulloblastoma(188;0.0321)|all_neural(188;0.0762) all cancers(45;1.75e-24)|BRCA - Breast invasive adenocarcinoma(625;5.73e-05)|Lung(200;0.0696)|LUSC - Lung squamous cell carcinoma(625;0.082) TCTTACAGATCGTGACGTCTG 0.557000 65 57 0 0 0.003610 0 0 GRHL1 29841 broad.mit.edu 37 2 10101265 10101265 + Silent SNP C T T TCGA-D3-A2JA-06A-11D-A196-08 TCGA-D3-A2JA-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx f961ddcc-fb01-4ad1-974e-ccb2656a328e a6cc66c4-23a1-43c8-9989-be2c10aa4f63 g.chr2:10101265C>T uc002raa.3 + 3 540 c.369C>T c.(367-369)gtC>gtT p.V123V GRHL1_uc002rab.3_Non-coding_Transcript|GRHL1_uc002rad.3_5'UTR|GRHL1_uc010yjb.2_5'UTR NM_198182 NP_937825 Q9NZI5 GRHL1_HUMAN Homo sapiens grainyhead-like 1 (Drosophila) (GRHL1), mRNA. 123 cellular lipid metabolic process|multicellular organismal development|regulation of transcription, DNA-dependent|transcription, DNA-dependent Golgi apparatus|nucleus DNA binding cervix(1)|endometrium(1)|large_intestine(2)|lung(8)|ovary(1)|pancreas(1)|skin(1)|stomach(1)|urinary_tract(1) 17 all_hematologic(175;0.127)|Acute lymphoblastic leukemia(172;0.155) Epithelial(75;0.172)|OV - Ovarian serous cystadenocarcinoma(76;0.246) TTAACATTGTCCTTCCCCATG 0.473000 24 5 0 0 0.000602 0 0 ODZ1 10178 broad.mit.edu 37 X 123805540 123805540 + Silent SNP C T T TCGA-D3-A2JA-06A-11D-A196-08 TCGA-D3-A2JA-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx f961ddcc-fb01-4ad1-974e-ccb2656a328e a6cc66c4-23a1-43c8-9989-be2c10aa4f63 g.chrX:123805540C>T uc010nqy.3 - 5 1225 c.1161G>A c.(1159-1161)gaG>gaA p.E387E ODZ1_uc011muj.2_Silent_p.E386E|ODZ1_uc004euj.3_Silent_p.E387E NM_001163278 NP_001156750 Q9UKZ4 TEN1_HUMAN Homo sapiens odz, odd Oz/ten-m homolog 1 (Drosophila) (ODZ1), transcript variant 1, mRNA. 387 immune response|negative regulation of cell proliferation|nervous system development|signal transduction extracellular region heparin binding p.D386N(1) NS(4)|breast(7)|cervix(3)|endometrium(23)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(36)|liver(1)|lung(93)|ovary(13)|pancreas(3)|prostate(2)|skin(10)|stomach(1)|upper_aerodigestive_tract(6)|urinary_tract(2) 212 TACCTTTTTTCTCTGATTTAT 0.378000 16 23 0 0 0.002299 0 0 SLC4A9 83697 broad.mit.edu 37 5 139742515 139742515 + Missense_Mutation SNP C T T TCGA-D3-A2JA-06A-11D-A196-08 TCGA-D3-A2JA-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx f961ddcc-fb01-4ad1-974e-ccb2656a328e a6cc66c4-23a1-43c8-9989-be2c10aa4f63 g.chr5:139742515C>T uc003lfm.2 + 6 933 c.898C>T c.(898-900)Cgt>Tgt p.R300C SLC4A9_uc003lfj.2_Missense_Mutation_p.R276C|SLC4A9_uc011czg.1_Missense_Mutation_p.R276C|SLC4A9_uc003lfl.2_Missense_Mutation_p.R276C|SLC4A9_uc003lfk.2_Missense_Mutation_p.R276C NM_031467 NP_113655 Q96Q91 B3A4_HUMAN Homo sapiens solute carrier family 4, sodium bicarbonate cotransporter, member 9 (SLC4A9), mRNA. 300 integral to membrane|plasma membrane inorganic anion exchanger activity|sodium:bicarbonate symporter activity p.R300C(3)|p.R274C(1)|p.R274S(1)|p.R300S(1) endometrium(4)|kidney(1)|large_intestine(1)|lung(7)|prostate(1) 14 KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191) GTGGTCAGTTCGTCGGGCCAG 0.542000 OREG0016461 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 94 32 0 0 0.003755 0 0 DCDC5 100506627 broad.mit.edu 37 11 31086035 31086035 + Missense_Mutation SNP G A A TCGA-D3-A2JA-06A-11D-A196-08 TCGA-D3-A2JA-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx f961ddcc-fb01-4ad1-974e-ccb2656a328e a6cc66c4-23a1-43c8-9989-be2c10aa4f63 g.chr11:31086035G>A uc009yjk.1 - 7 985 c.916C>T c.(916-918)Cct>Tct p.P306S DCDC5_uc009yjl.1_Missense_Mutation_p.P234S|DCDC5_uc001msu.2_Missense_Mutation_p.P477S NM_020869 NP_065920 Q6ZRR9 DCDC5_HUMAN Homo sapiens doublecortin domain containing 5 (DCDC5), mRNA. 0 intracellular signal transduction NS(1)|breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(3)|lung(17)|prostate(1)|stomach(1) 31 GAAGCCTTAGGATGTTTCTCT 0.453000 82 67 0 0 0.003610 0 0 DDX60L 91351 broad.mit.edu 37 4 169343713 169343713 + Missense_Mutation SNP C T T TCGA-D3-A2JA-06A-11D-A196-08 TCGA-D3-A2JA-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx f961ddcc-fb01-4ad1-974e-ccb2656a328e a6cc66c4-23a1-43c8-9989-be2c10aa4f63 g.chr4:169343713C>T uc021xuh.1 - 14 2316 c.2206G>A c.(2206-2208)Gat>Aat p.D736N DDX60L_uc003irq.4_Missense_Mutation_p.D736N|DDX60L_uc003irr.1_Missense_Mutation_p.D736N|DDX60L_uc003irs.1_Missense_Mutation_p.D463N NM_001012967 NP_001012985 Q5H9U9 DDX6L_HUMAN Homo sapiens DEAD (Asp-Glu-Ala-Asp) box polypeptide 60-like (DDX60L), mRNA. 736 ATP binding|ATP-dependent helicase activity|RNA binding breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(7)|lung(23)|ovary(2)|prostate(1)|skin(1)|stomach(1) 43 Prostate(90;0.00876)|Renal(120;0.0183)|all_neural(102;0.0837)|Melanoma(52;0.132) GBM - Glioblastoma multiforme(119;0.175) ACCCTGGGATCCCGATCTTTT 0.388000 14 4 0 0 0.000602 0 0 PHKA1 5255 broad.mit.edu 37 X 71822120 71822120 + Missense_Mutation SNP C T T TCGA-D3-A2JA-06A-11D-A196-08 TCGA-D3-A2JA-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx f961ddcc-fb01-4ad1-974e-ccb2656a328e a6cc66c4-23a1-43c8-9989-be2c10aa4f63 g.chrX:71822120C>T uc004eax.4 - 26 3222 c.2921G>A c.(2920-2922)cGt>cAt p.R974H PHKA1_uc004eay.4_Missense_Mutation_p.R974H|PHKA1_uc011mqi.2_Missense_Mutation_p.R915H NM_002637 NP_002628 P46020 KPB1_HUMAN Homo sapiens phosphorylase kinase, alpha 1 (muscle) (PHKA1), transcript variant 1, mRNA. 974 glucose metabolic process|glycogen catabolic process cytosol|plasma membrane calmodulin binding|glucan 1,4-alpha-glucosidase activity|phosphorylase kinase activity p.R974S(1) NS(1)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(9)|liver(2)|lung(18)|ovary(3)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1) 52 Renal(35;0.156) ATCAGTGGGACGAACTATGTA 0.363000 3 4 0 0 0.000248 0 0 KIAA1033 23325 broad.mit.edu 37 12 105534683 105534684 + Missense_Mutation DNP GT AA AA TCGA-D3-A2JA-06A-11D-A196-08 TCGA-D3-A2JA-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx f961ddcc-fb01-4ad1-974e-ccb2656a328e a6cc66c4-23a1-43c8-9989-be2c10aa4f63 g.chr12:105534683_105534684GT>AA uc010swr.2 + 16 1657_1658 c.1570_1571GT>AA c.(1570-1572)gtg>AAg p.V524K KIAA1033_uc001tld.3_Missense_Mutation_p.V523K|KIAA1033_uc010sws.2_Missense_Mutation_p.V335K NM_015275 NP_056090 Q2M389 WAHS7_HUMAN Homo sapiens KIAA1033 (KIAA1033), mRNA. 523 endosome transport WASH complex breast(3)|central_nervous_system(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(8)|lung(15)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2) 41 TAAGAAAAGAGTGATTTCTGAC 0.356000 49 11 0 0 0.004672 0 0 NSL1 25936 broad.mit.edu 37 1 212964981 212964981 + Missense_Mutation SNP G A A TCGA-D3-A2JA-06A-11D-A196-08 TCGA-D3-A2JA-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx f961ddcc-fb01-4ad1-974e-ccb2656a328e a6cc66c4-23a1-43c8-9989-be2c10aa4f63 g.chr1:212964981G>A uc001hjn.3 - 0 159 c.125C>T c.(124-126)tCg>tTg p.S42L NSL1_uc001hjm.3_Missense_Mutation_p.S42L|NSL1_uc010pti.2_Missense_Mutation_p.S42L|TATDN3_uc001hjo.2_5'Flank|TATDN3_uc010ptj.1_5'Flank|TATDN3_uc010ptk.1_5'Flank|TATDN3_uc001hjp.2_5'Flank|TATDN3_uc010ptl.1_5'Flank NM_015471 NP_056286 Q96IY1 NSL1_HUMAN Homo sapiens NSL1, MIND kinetochore complex component, homolog (S. cerevisiae) (NSL1), transcript variant 1, mRNA. 42 cell division|chromosome segregation|mitotic prometaphase MIS12/MIND type complex|cytosol|nucleus protein binding breast(1)|kidney(1)|large_intestine(1)|lung(2)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 9 OV - Ovarian serous cystadenocarcinoma(81;0.00597)|all cancers(67;0.00893)|GBM - Glioblastoma multiforme(131;0.0514)|Epithelial(68;0.102) AGCCCGCTTCGAGGTGCAGCG 0.642000 78 46 0 0 0.002852 0 0 MSTN 2660 broad.mit.edu 37 2 190922360 190922360 + Missense_Mutation SNP G A A TCGA-D3-A2JA-06A-11D-A196-08 TCGA-D3-A2JA-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx f961ddcc-fb01-4ad1-974e-ccb2656a328e a6cc66c4-23a1-43c8-9989-be2c10aa4f63 g.chr2:190922360G>A uc002urp.3 - 2 885 c.752C>T c.(751-753)cCg>cTg p.P251L NM_005259 NP_005250 O14793 GDF8_HUMAN Homo sapiens myostatin (MSTN), mRNA. 251 muscle organ development|positive regulation of transcription, DNA-dependent extracellular space cytokine activity|growth factor activity endometrium(1)|kidney(1)|large_intestine(1)|lung(8)|skin(1) 12 OV - Ovarian serous cystadenocarcinoma(117;0.000742)|Epithelial(96;0.0121)|all cancers(119;0.0395) CTCTAAAAACGGATTCTGTTT 0.368000 31 12 0 0 0.001855 0 0 DDX49 54555 broad.mit.edu 37 19 19032527 19032527 + Silent SNP C T T TCGA-D3-A2JA-06A-11D-A196-08 TCGA-D3-A2JA-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx f961ddcc-fb01-4ad1-974e-ccb2656a328e a6cc66c4-23a1-43c8-9989-be2c10aa4f63 g.chr19:19032527C>T uc002nkq.2 + 2 362 c.295C>T c.(295-297)Ctg>Ttg p.L99L COPE_uc002nkl.3_5'Flank|COPE_uc002nkk.3_5'Flank|COPE_uc002nkm.3_5'Flank|HOMER3_uc002nkp.1_Intron|HOMER3_uc002nko.1_Intron|DDX49_uc002nks.2_5'UTR|DDX49_uc002nkr.2_Non-coding_Transcript|DDX49_uc002nkt.1_5'Flank NM_019070 NP_061943 Q9Y6V7 DDX49_HUMAN Homo sapiens DEAD (Asp-Glu-Ala-Asp) box polypeptide 49 (DDX49), transcript variant 1, mRNA. 99 Helicase ATP-binding. ATP binding|ATP-dependent helicase activity|RNA binding breast(1)|endometrium(6)|large_intestine(3)|lung(6)|ovary(1)|prostate(1) 18 Epithelial(12;0.0289) GCCTCTAGGGCTGAAAGACTG 0.647000 60 31 0 0 0.005524 0 0 C1orf49 84066 broad.mit.edu 37 1 178489992 178489992 + Missense_Mutation SNP C T T TCGA-D3-A2JA-06A-11D-A196-08 TCGA-D3-A2JA-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx f961ddcc-fb01-4ad1-974e-ccb2656a328e a6cc66c4-23a1-43c8-9989-be2c10aa4f63 g.chr1:178489992C>T uc001glt.2 + 6 638 c.526C>T c.(526-528)Cac>Tac p.H176Y C1orf49_uc021pfd.1_Missense_Mutation_p.H176Y|C1orf49_uc001glu.1_Missense_Mutation_p.H176Y|C1orf49_uc021pfe.1_Missense_Mutation_p.H176Y|C1orf49_uc001glw.2_Missense_Mutation_p.H184Y|C1orf49_uc001glv.1_Non-coding_Transcript NM_032126 NP_115502 Q5T0J7 CA049_HUMAN Homo sapiens chromosome 1 open reading frame 49 (C1orf49), transcript variant 1, mRNA. 176 microtubule cytoskeleton breast(1)|endometrium(1)|large_intestine(3)|lung(7)|skin(1) 13 TCCCCTTCATCACTGTGGGAC 0.577000 32 15 0 0 0.004990 0 0 RYR3 6263 broad.mit.edu 37 15 33927852 33927852 + Silent SNP C T T TCGA-D3-A2JA-06A-11D-A196-08 TCGA-D3-A2JA-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx f961ddcc-fb01-4ad1-974e-ccb2656a328e a6cc66c4-23a1-43c8-9989-be2c10aa4f63 g.chr15:33927852C>T uc001zhi.3 + 25 3283 c.3213C>T c.(3211-3213)atC>atT p.I1071I RYR3_uc010bar.3_Silent_p.I1071I NM_001036 NP_001027 Q15413 RYR3_HUMAN Homo sapiens ryanodine receptor 3 (RYR3), transcript variant 1, mRNA. 1071 4 X approximate repeats.|B30.2/SPRY 2. cellular calcium ion homeostasis integral to membrane calcium ion binding|receptor activity|ryanodine-sensitive calcium-release channel activity NS(3)|breast(9)|central_nervous_system(8)|cervix(2)|endometrium(29)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(55)|lung(148)|ovary(7)|pancreas(1)|prostate(13)|skin(4)|stomach(1)|upper_aerodigestive_tract(8)|urinary_tract(3) 311 all_lung(180;7.18e-09) all cancers(64;8.95e-12)|GBM - Glioblastoma multiforme(186;0.00109)|BRCA - Breast invasive adenocarcinoma(123;0.0363) TAGACAAGATCCGATTTTTCC 0.493000 19 8 0 0 0.004482 0 0 KIAA1429 25962 broad.mit.edu 37 8 95539167 95539167 + Silent SNP G A A TCGA-D3-A2JA-06A-11D-A196-08 TCGA-D3-A2JA-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx f961ddcc-fb01-4ad1-974e-ccb2656a328e a6cc66c4-23a1-43c8-9989-be2c10aa4f63 g.chr8:95539167G>A uc003ygo.2 - 7 1376 c.1305C>T c.(1303-1305)acC>acT p.T435T KIAA1429_uc003ygp.3_Silent_p.T435T|KIAA1429_uc010maz.2_Non-coding_Transcript NM_015496 NP_056311 Q69YN4 VIR_HUMAN Homo sapiens KIAA1429 (KIAA1429), transcript variant 1, mRNA. 435 RNA splicing|mRNA processing nucleus NS(1)|breast(3)|central_nervous_system(1)|endometrium(4)|kidney(5)|large_intestine(16)|lung(28)|ovary(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1) 66 Breast(36;3.29e-05) BRCA - Breast invasive adenocarcinoma(8;0.00185) AAGCTTGCATGGTCCAGTCTA 0.398000 55 56 0 0 0.003610 0 0 BEST2 54831 broad.mit.edu 37 19 12865723 12865723 + Missense_Mutation SNP G A A TCGA-D3-A2JA-06A-11D-A196-08 TCGA-D3-A2JA-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx f961ddcc-fb01-4ad1-974e-ccb2656a328e a6cc66c4-23a1-43c8-9989-be2c10aa4f63 g.chr19:12865723G>A uc002mux.3 + 3 514 c.514G>A c.(514-516)Gaa>Aaa p.E172K NM_017682 NP_060152 Q8NFU1 BEST2_HUMAN Homo sapiens bestrophin 2 (BEST2), mRNA. 172 membrane depolarization|sensory perception of smell chloride channel complex|cilium|plasma membrane chloride channel activity breast(3)|endometrium(1)|large_intestine(4)|lung(2)|ovary(1)|pancreas(1) 12 CAAGAAGTTTGAAAACCTGAA 0.622000 19 6 0 0 0.001984 0 0 MYCN 4613 broad.mit.edu 37 2 16086120 16086120 + Silent SNP C A A TCGA-D3-A2JA-06A-11D-A196-08 TCGA-D3-A2JA-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx f961ddcc-fb01-4ad1-974e-ccb2656a328e a6cc66c4-23a1-43c8-9989-be2c10aa4f63 g.chr2:16086120C>A uc002rci.3 + 2 1596 c.1296C>A c.(1294-1296)tcC>tcA p.S432S MYCN_uc010yjr.2_Silent_p.S432S NM_005378 NP_005369 P04198 MYCN_HUMAN Homo sapiens v-myc myelocytomatosis viral related oncogene, neuroblastoma derived (avian) (MYCN), mRNA. 432 Helix-loop-helix motif. regulation of transcription from RNA polymerase II promoter chromatin|nucleus DNA binding|protein binding|sequence-specific DNA binding transcription factor activity NS(2)|autonomic_ganglia(1)|breast(1)|central_nervous_system(4)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(7)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|urinary_tract(1) 31 all_cancers(1;1.35e-08)|all_neural(1;2.92e-24)|Lung SC(1;3.26e-07)|Medulloblastoma(1;6.9e-06)|all_lung(1;1.26e-05)|Glioma(3;0.135)|Acute lymphoblastic leukemia(172;0.155)|all_epithelial(1;0.169)|all_hematologic(175;0.197) GBM - Glioblastoma multiforme(3;0.000332) ATGTCCACTCCCTCCAGGCCG 0.512000 A neuroblastoma 182 45 6.68952e-21 7.7123e-21 0.003214 1 0 RIMS1 22999 broad.mit.edu 37 6 72596778 72596778 + Missense_Mutation SNP C T T TCGA-D3-A2JA-06A-11D-A196-08 TCGA-D3-A2JA-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx f961ddcc-fb01-4ad1-974e-ccb2656a328e a6cc66c4-23a1-43c8-9989-be2c10aa4f63 g.chr6:72596778C>T uc003pga.3 + 0 129 c.52C>T c.(52-54)Ccc>Tcc p.P18S NM_014989 NP_055804 Q86UR5 RIMS1_HUMAN Homo sapiens regulating synaptic membrane exocytosis 1 (RIMS1), transcript variant 1, mRNA. 18 calcium ion-dependent exocytosis|cellular membrane fusion|glutamate secretion|intracellular protein transport|protein complex assembly|regulated secretory pathway|response to stimulus|synaptic vesicle exocytosis|visual perception cell junction|presynaptic membrane Rab GTPase binding|metal ion binding NS(1)|breast(2)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(25)|liver(4)|lung(35)|ovary(9)|pancreas(3)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1) 102 all_epithelial(107;0.179)|all_hematologic(105;0.212) GGTGCCTCCCCCCATGCAAGA 0.632000 18 4 0 0 0.000248 0 0 ABCA4 24 broad.mit.edu 37 1 94485300 94485300 + Silent SNP C T T TCGA-D3-A2JA-06A-11D-A196-08 TCGA-D3-A2JA-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx f961ddcc-fb01-4ad1-974e-ccb2656a328e a6cc66c4-23a1-43c8-9989-be2c10aa4f63 g.chr1:94485300C>T uc001dqh.3 - 35 5138 c.5034G>A c.(5032-5034)gtG>gtA p.V1678V ABCA4_uc009wdp.1_5'Flank NM_000350 NP_000341 P78363 ABCA4_HUMAN Homo sapiens ATP-binding cassette, sub-family A (ABC1), member 4 (ABCA4), mRNA. 1678 phototransduction, visible light|visual perception integral to plasma membrane|membrane fraction ATP binding|ATPase activity, coupled to transmembrane movement of substances 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) CCACAGCATCCACTGAAGTGG 0.532000 8 9 0 0 0.004482 0 0 NOV 4856 broad.mit.edu 37 8 120429133 120429133 + Silent SNP G A A TCGA-D3-A2JA-06A-11D-A196-08 TCGA-D3-A2JA-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx f961ddcc-fb01-4ad1-974e-ccb2656a328e a6cc66c4-23a1-43c8-9989-be2c10aa4f63 g.chr8:120429133G>A uc003yoq.2 + 1 455 c.234G>A c.(232-234)ctG>ctA p.L78L NM_002514 NP_002505 P48745 NOV_HUMAN Homo sapiens nephroblastoma overexpressed gene (NOV), mRNA. 78 IGFBP N-terminal. regulation of cell growth growth factor activity|insulin-like growth factor binding NS(1)|breast(1)|endometrium(2)|kidney(2)|large_intestine(2)|lung(7)|ovary(2)|pancreas(1)|skin(3) 21 all_cancers(13;3.84e-26)|Lung NSC(37;1.19e-08)|Ovarian(258;0.0249)|Hepatocellular(40;0.161) STAD - Stomach adenocarcinoma(47;0.000507) Insulin Glargine recombinant(DB00047)|Insulin Lyspro recombinant(DB00046)|Insulin recombinant(DB00030)|Insulin, porcine(DB00071) GCTCAGATCTGGAGCCATGCG 0.672000 OREG0018940 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 23 27 0 0 0.006320 0 0 GLT6D1 360203 broad.mit.edu 37 9 138516048 138516048 + Silent SNP G A A TCGA-D3-A2JA-06A-11D-A196-08 TCGA-D3-A2JA-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx f961ddcc-fb01-4ad1-974e-ccb2656a328e a6cc66c4-23a1-43c8-9989-be2c10aa4f63 g.chr9:138516048G>A uc010nbd.1 - 4 980 c.726C>T c.(724-726)ttC>ttT p.F242F NM_182974 NP_892019 Q7Z4J2 GL6D1_HUMAN Homo sapiens glycosyltransferase 6 domain containing 1 (GLT6D1), mRNA. 242 carbohydrate metabolic process integral to membrane transferase activity, transferring hexosyl groups p.D241Y(1) endometrium(2)|large_intestine(5)|lung(3)|ovary(1)|pancreas(1)|prostate(1)|skin(1)|stomach(1) 15 Myeloproliferative disorder(178;0.0821) OV - Ovarian serous cystadenocarcinoma(145;4.3e-07)|Epithelial(140;1.58e-06)|all cancers(34;5.36e-05) ATTCTTTGATGAAGTCTAAAA 0.398000 53 38 0 0 0.007835 0 0 CACNA1S 779 broad.mit.edu 37 1 201039473 201039473 + Missense_Mutation SNP C T T TCGA-D3-A2JA-06A-11D-A196-08 TCGA-D3-A2JA-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx f961ddcc-fb01-4ad1-974e-ccb2656a328e a6cc66c4-23a1-43c8-9989-be2c10aa4f63 g.chr1:201039473C>T uc001gvv.3 - 16 2514 c.2287G>A c.(2287-2289)Gag>Aag p.E763K NM_000069 NP_000060 Q13698 CAC1S_HUMAN Homo sapiens calcium channel, voltage-dependent, L type, alpha 1S subunit (CACNA1S), mRNA. 763 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) AGCTGCAGCTCAGCCAGGGGA 0.607000 110 24 0 0 0.006320 0 0 CKM 1158 broad.mit.edu 37 19 45810756 45810756 + Silent SNP C T T TCGA-D3-A2JA-06A-11D-A196-08 TCGA-D3-A2JA-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx f961ddcc-fb01-4ad1-974e-ccb2656a328e a6cc66c4-23a1-43c8-9989-be2c10aa4f63 g.chr19:45810756C>T uc002pbd.3 - 6 1103 c.930G>A c.(928-930)gaG>gaA p.E310E NM_001824 NP_001815 P06732 KCRM_HUMAN Homo sapiens creatine kinase, muscle (CKM), mRNA. 310 Phosphagen kinase C-terminal. creatine metabolic process cytosol ATP binding|creatine kinase activity cervix(1)|endometrium(1)|large_intestine(8)|lung(3)|prostate(2)|skin(2) 17 Ovarian(192;0.0336)|all_neural(266;0.112) OV - Ovarian serous cystadenocarcinoma(262;2.29e-44)|Epithelial(262;1.05e-38)|GBM - Glioblastoma multiforme(486;3.56e-07) Creatine(DB00148) GGGTGAGGATCTCCTCGAACT 0.642000 32 10 0 0 0.006214 0 0 IQCH 64799 broad.mit.edu 37 15 67629324 67629324 + Silent SNP G A A TCGA-D3-A2JA-06A-11D-A196-08 TCGA-D3-A2JA-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx f961ddcc-fb01-4ad1-974e-ccb2656a328e a6cc66c4-23a1-43c8-9989-be2c10aa4f63 g.chr15:67629324G>A uc002aqo.2 + 4 496 c.399G>A c.(397-399)tcG>tcA p.S133S IQCH_uc010ujv.2_Intron|IQCH_uc002aqn.2_Intron|IQCH_uc002aqp.2_Intron|IQCH_uc002aqq.2_Intron NM_001031715 NP_001026885 Q86VS3 IQCH_HUMAN Homo sapiens IQ motif containing H (IQCH), transcript variant 1, mRNA. 133 NS(1)|breast(1)|cervix(1)|endometrium(2)|large_intestine(9)|lung(9)|ovary(2)|pancreas(2)|skin(5)|upper_aerodigestive_tract(1) 33 Colorectal(3;0.0856) TAAAGGTTTCGAAGTTAATCA 0.343000 41 15 0 0 0.003163 0 0 MUC16 94025 broad.mit.edu 37 19 9083586 9083586 + Silent SNP C T T TCGA-D3-A2JA-06A-11D-A196-08 TCGA-D3-A2JA-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx f961ddcc-fb01-4ad1-974e-ccb2656a328e a6cc66c4-23a1-43c8-9989-be2c10aa4f63 g.chr19:9083586C>T uc002mkp.3 - 0 8433 c.8229G>A c.(8227-8229)tcG>tcA p.S2743S NM_024690 NP_078966 Q8WXI7 MUC16_HUMAN Homo sapiens mucin 16, cell surface associated (MUC16), mRNA. 2743 Ser-rich.|Thr-rich. cell adhesion extracellular space|extrinsic to membrane|integral to membrane|plasma membrane protein binding p.S2743L(1) 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 CCACTGTGATCGAACCTTCAT 0.463000 86 54 0 0 0.003610 0 0 DET1 55070 broad.mit.edu 37 15 89073862 89073862 + Missense_Mutation SNP G A A TCGA-D3-A2JA-06A-11D-A196-08 TCGA-D3-A2JA-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx f961ddcc-fb01-4ad1-974e-ccb2656a328e a6cc66c4-23a1-43c8-9989-be2c10aa4f63 g.chr15:89073862G>A uc002bmq.2 - 2 1297 c.1108C>T c.(1108-1110)Cca>Tca p.P370S DET1_uc002bmp.4_Non-coding_Transcript|DET1_uc002bmr.2_Missense_Mutation_p.P359S|DET1_uc010bnk.2_Non-coding_Transcript NM_017996 NP_001137546 Q7L5Y6 DET1_HUMAN Homo sapiens de-etiolated homolog 1 (Arabidopsis) (DET1), transcript variant 1, mRNA. 359 nucleus endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(1)|lung(10)|pancreas(1)|prostate(3)|upper_aerodigestive_tract(1)|urinary_tract(1) 23 Lung NSC(78;0.105)|all_lung(78;0.182) BRCA - Breast invasive adenocarcinoma(143;0.188) ACCTGTGATGGATCTGTGACT 0.448000 61 24 0 0 0.004656 0 0 KRTAP10-1 386677 broad.mit.edu 37 21 45960014 45960014 + Missense_Mutation SNP G A A TCGA-D3-A2JA-06A-11D-A196-08 TCGA-D3-A2JA-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx f961ddcc-fb01-4ad1-974e-ccb2656a328e a6cc66c4-23a1-43c8-9989-be2c10aa4f63 g.chr21:45960014G>A uc002zfh.1 - 0 65 c.20C>T c.(19-21)tCc>tTc p.S7F TSPEAR_uc002zfe.1_Intron|TSPEAR_uc010gpv.1_Intron NM_198691 NP_941964 P60331 KR101_HUMAN Homo sapiens keratin associated protein 10-1 (KRTAP10-1), mRNA. 7 keratin filament breast(1)|central_nervous_system(1)|endometrium(1)|lung(3)|prostate(4)|skin(1) 11 GGAGCAGACGGACATGGTGGA 0.662000 56 19 0 0 0.008871 0 0 CAB39L 81617 broad.mit.edu 37 13 49924970 49924970 + Silent SNP G A A TCGA-D3-A2JA-06A-11D-A196-08 TCGA-D3-A2JA-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx f961ddcc-fb01-4ad1-974e-ccb2656a328e a6cc66c4-23a1-43c8-9989-be2c10aa4f63 g.chr13:49924970G>A uc001vcw.3 - 4 972 c.474C>T c.(472-474)atC>atT p.I158I CAB39L_uc001vcx.3_Silent_p.I158I|CAB39L_uc010adf.3_Silent_p.I155I NM_030925 NP_112187 Q9H9S4 CB39L_HUMAN Homo sapiens calcium binding protein 39-like (CAB39L), transcript variant 1, mRNA. 158 cell cycle arrest|insulin receptor signaling pathway|regulation of fatty acid oxidation cytosol protein binding p.I158V(1) breast(1)|endometrium(2)|large_intestine(4)|lung(3)|pancreas(1)|stomach(1) 12 Lung NSC(96;2.11e-05)|Breast(56;0.00017)|Prostate(109;0.00314)|Hepatocellular(98;0.0207)|Myeloproliferative disorder(33;0.163)|Lung SC(185;0.187)|all_neural(104;0.19) KIRC - Kidney renal clear cell carcinoma(9;0.206) GBM - Glioblastoma multiforme(99;3.66e-09)|COAD - Colon adenocarcinoma(199;0.226) AAAAGAGGATGATTTTGGCAA 0.368000 45 14 0 0 0.003163 0 0 PSME4 23198 broad.mit.edu 37 2 54115873 54115873 + Missense_Mutation SNP G A A TCGA-D3-A2JA-06A-11D-A196-08 TCGA-D3-A2JA-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx f961ddcc-fb01-4ad1-974e-ccb2656a328e a6cc66c4-23a1-43c8-9989-be2c10aa4f63 g.chr2:54115873G>A uc002rxp.2 - 37 4429 c.4373C>T c.(4372-4374)tCc>tTc p.S1458F PSME4_uc010yop.1_Missense_Mutation_p.S1344F|PSME4_uc010yoq.1_Non-coding_Transcript|PSME4_uc010fbu.1_Missense_Mutation_p.S833F|PSME4_uc010fbv.1_Missense_Mutation_p.S602F|PSME4_uc010fbt.1_5'Flank NM_014614 NP_055429 Q14997 PSME4_HUMAN Homo sapiens proteasome (prosome, macropain) activator subunit 4 (PSME4), mRNA. 1458 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) ATCTACAAAGGATCCTCCTTC 0.353000 90 35 0 0 0.005524 0 0 JMJD1C 221037 broad.mit.edu 37 10 64949134 64949134 + Missense_Mutation SNP G A A TCGA-D3-A2JA-06A-11D-A196-08 TCGA-D3-A2JA-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx f961ddcc-fb01-4ad1-974e-ccb2656a328e a6cc66c4-23a1-43c8-9989-be2c10aa4f63 g.chr10:64949134G>A uc001jmn.3 - 17 6664 c.6364C>T c.(6364-6366)Cca>Tca p.P2122S JMJD1C_uc001jml.3_Missense_Mutation_p.P1885S|JMJD1C_uc001jmm.3_Missense_Mutation_p.P1834S|JMJD1C_uc010qiq.2_Missense_Mutation_p.P1940S|JMJD1C_uc009xpi.3_Missense_Mutation_p.P1940S|JMJD1C_uc009xpj.2_Non-coding_Transcript|JMJD1C_uc001jmo.3_Missense_Mutation_p.P29S NM_032776 NP_116165 Q15652 JHD2C_HUMAN Homo sapiens jumonji domain containing 1C (JMJD1C), transcript variant 1, mRNA. 2122 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) TTACTTGGTGGAATTTTGTTT 0.318000 54 10 0 0 0.008291 0 0 FREM2 341640 broad.mit.edu 37 13 39262764 39262764 + Missense_Mutation SNP T A A TCGA-D3-A2JA-06A-11D-A196-08 TCGA-D3-A2JA-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx f961ddcc-fb01-4ad1-974e-ccb2656a328e a6cc66c4-23a1-43c8-9989-be2c10aa4f63 g.chr13:39262764T>A uc001uwv.3 + 0 1592 c.1283T>A c.(1282-1284)aTg>aAg p.M428K NM_207361 NP_997244 Q5SZK8 FREM2_HUMAN Homo sapiens FRAS1 related extracellular matrix protein 2 (FREM2), mRNA. 428 cell communication|homophilic cell adhesion|multicellular organismal development integral to membrane|plasma membrane calcium ion binding NS(1)|breast(2)|central_nervous_system(2)|cervix(1)|endometrium(14)|haematopoietic_and_lymphoid_tissue(3)|kidney(8)|large_intestine(35)|lung(39)|ovary(9)|pancreas(2)|prostate(12)|skin(11)|upper_aerodigestive_tract(7)|urinary_tract(2) 148 Lung NSC(96;1.04e-07)|Prostate(109;0.00384)|Breast(139;0.00396)|Lung SC(185;0.0565)|Hepatocellular(188;0.114) all cancers(112;3.32e-07)|Epithelial(112;1.66e-05)|OV - Ovarian serous cystadenocarcinoma(117;0.00154)|BRCA - Breast invasive adenocarcinoma(63;0.00631)|GBM - Glioblastoma multiforme(144;0.0312) TTTGCCTTCATGGTAGTGGTG 0.547000 47 21 0 0 0.001882 0 0 LAMA5 3911 broad.mit.edu 37 20 60911420 60911421 + Missense_Mutation DNP GG AA AA TCGA-D3-A2JA-06A-11D-A196-08 TCGA-D3-A2JA-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx f961ddcc-fb01-4ad1-974e-ccb2656a328e a6cc66c4-23a1-43c8-9989-be2c10aa4f63 g.chr20:60911420_60911421GG>AA uc002ycq.3 - 17 2365_2366 c.2298_2299CC>TT c.(2296-2301)agcccc>agTTcc p.P767S LAMA5_uc021wfw.1_Missense_Mutation_p.P767S NM_005560 NP_005551 O15230 LAMA5_HUMAN Homo sapiens laminin, alpha 5 (LAMA5), mRNA. 767 Laminin EGF-like 9. angiogenesis|cell proliferation|cell recognition|cytoskeleton organization|endothelial cell differentiation|focal adhesion assembly|integrin-mediated signaling pathway|regulation of cell adhesion|regulation of cell migration|regulation of embryonic development|substrate adhesion-dependent cell spreading extracellular space|laminin-1 complex|laminin-10 complex|laminin-11 complex integrin binding breast(2)|central_nervous_system(3)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(3)|kidney(7)|lung(40)|ovary(1)|pancreas(1)|prostate(3)|skin(6)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(2) 81 Breast(26;1.57e-08) BRCA - Breast invasive adenocarcinoma(19;4.36e-06) Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Tenecteplase(DB00031) GGGTTGCTGGGGCTCAGTCCCC 0.624000 90 7 0 0 0.004672 0 0 MYEOV 26579 broad.mit.edu 37 11 69063157 69063157 + Silent SNP C T T TCGA-D3-A2JA-06A-11D-A196-08 TCGA-D3-A2JA-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx f961ddcc-fb01-4ad1-974e-ccb2656a328e a6cc66c4-23a1-43c8-9989-be2c10aa4f63 g.chr11:69063157C>T uc001oov.3 + 2 690 c.240C>T c.(238-240)ctC>ctT p.L80L MYEOV_uc001oox.3_Intron|MYEOV_uc009ysl.3_Silent_p.L80L|MYEOV_uc001oow.3_Silent_p.L22L NM_138768 NP_620123 Q96EZ4 MYEOV_HUMAN Homo sapiens myeloma overexpressed (in a subset of t(11;14) positive multiple myelomas) (MYEOV), mRNA. 80 endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(1)|lung(12)|prostate(2)|skin(1)|urinary_tract(1) 24 all_lung(4;2.21e-19)|Lung NSC(4;6.13e-19)|Melanoma(5;0.00128) LUSC - Lung squamous cell carcinoma(11;3.33e-11)|STAD - Stomach adenocarcinoma(18;0.00654)|LUAD - Lung adenocarcinoma(13;0.0713) Kidney(183;2.99e-09)|KIRC - Kidney renal clear cell carcinoma(183;3.23e-08)|Lung(977;0.00361)|LUSC - Lung squamous cell carcinoma(976;0.0153) GGGGCCGCCTCTGTCTCTCCC 0.622000 52 45 0 0 0.002852 0 0 GTPBP4 23560 broad.mit.edu 37 10 1038588 1038588 + Missense_Mutation SNP C T T TCGA-D3-A2JA-06A-11D-A196-08 TCGA-D3-A2JA-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx f961ddcc-fb01-4ad1-974e-ccb2656a328e a6cc66c4-23a1-43c8-9989-be2c10aa4f63 g.chr10:1038588C>T uc001ift.3 + 1 279 c.208C>T c.(208-210)Ccc>Tcc p.P70S GTPBP4_uc010qac.1_5'UTR|GTPBP4_uc010qad.2_5'UTR|GTPBP4_uc010qae.2_Missense_Mutation_p.P23S NM_012341 NP_036473 Q9BZE4 NOG1_HUMAN Homo sapiens GTP binding protein 4 (GTPBP4), mRNA. 70 negative regulation of DNA replication|negative regulation of cell migration|negative regulation of cell proliferation|negative regulation of cell-cell adhesion|negative regulation of collagen binding|negative regulation of protein ubiquitination|protein stabilization|regulation of cyclin-dependent protein kinase activity|ribosome biogenesis nucleolus|perinuclear region of cytoplasm GTP binding|GTPase activity|protein binding endometrium(2)|kidney(1)|large_intestine(3)|lung(11)|ovary(1)|prostate(2)|skin(1) 21 all_epithelial(10;0.107)|Colorectal(49;0.14) OV - Ovarian serous cystadenocarcinoma(33;0.0814) Epithelial(11;0.0513)|all cancers(11;0.135)|OV - Ovarian serous cystadenocarcinoma(14;0.173) AACAGATTTCCCCAAATTGGA 0.353000 13 3 0 0 0.004672 0 0 CDC42 998 broad.mit.edu 37 1 22413183 22413183 + Missense_Mutation SNP C T T TCGA-D3-A2JA-06A-11D-A196-08 TCGA-D3-A2JA-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx f961ddcc-fb01-4ad1-974e-ccb2656a328e a6cc66c4-23a1-43c8-9989-be2c10aa4f63 g.chr1:22413183C>T uc001bfq.3 + 5 602 c.310C>T c.(310-312)Cac>Tac p.H104Y CDC42_uc009vqg.1_Missense_Mutation_p.H104Y|CDC42_uc001bfp.3_Missense_Mutation_p.H104Y|CDC42_uc009vqh.3_Missense_Mutation_p.H63Y|CDC42_uc001bfr.3_Missense_Mutation_p.H104Y|CDC42_uc010odr.2_Missense_Mutation_p.H149Y|CDC42_uc010ods.2_Missense_Mutation_p.H146Y NM_001039802 NP_001782 P60953 CDC42_HUMAN Homo sapiens cell division cycle 42 (GTP binding protein, 25kDa) (CDC42), transcript variant 3, mRNA. 104 T cell costimulation|actin cytoskeleton organization|axon guidance|blood coagulation|epidermal growth factor receptor signaling pathway|establishment or maintenance of cell polarity|macrophage differentiation|muscle cell differentiation|negative regulation of epidermal growth factor receptor signaling pathway|negative regulation of protein complex assembly|positive regulation of muscle cell differentiation|positive regulation of pseudopodium assembly|regulation of filopodium assembly|regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction cytosol|filopodium|plasma membrane GTP binding|GTPase activity|protein binding|thioesterase binding NS(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(1)|lung(4) 12 Colorectal(325;3.46e-05)|all_lung(284;5.94e-05)|Lung NSC(340;6.55e-05)|Renal(390;0.000219)|Breast(348;0.00222)|Ovarian(437;0.00308)|Myeloproliferative disorder(586;0.0255)|Prostate(1639;0.0792) UCEC - Uterine corpus endometrioid carcinoma (279;0.0452)|OV - Ovarian serous cystadenocarcinoma(117;7.32e-26)|Colorectal(126;1.35e-07)|COAD - Colon adenocarcinoma(152;7.73e-06)|GBM - Glioblastoma multiforme(114;8.62e-06)|BRCA - Breast invasive adenocarcinoma(304;0.000649)|STAD - Stomach adenocarcinoma(196;0.00644)|KIRC - Kidney renal clear cell carcinoma(1967;0.00767)|READ - Rectum adenocarcinoma(331;0.0419)|Lung(427;0.207) GATAACTCACCACTGTCCAAA 0.378000 233 45 0 0 0.002522 0 0 EPHA6 285220 broad.mit.edu 37 3 97124098 97124098 + Missense_Mutation SNP G A A TCGA-D3-A2JA-06A-11D-A196-08 TCGA-D3-A2JA-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx f961ddcc-fb01-4ad1-974e-ccb2656a328e a6cc66c4-23a1-43c8-9989-be2c10aa4f63 g.chr3:97124098G>A uc010how.1 + 5 1754 c.1711G>A c.(1711-1713)Gag>Aag p.E571K NM_001080448 NP_001073917 Q9UF33 EPHA6_HUMAN Homo sapiens EPH receptor A6 (EPHA6), transcript variant 1, mRNA. 476 integral to plasma membrane ATP binding|ephrin receptor activity p.E477K(2) 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 TCTGGACTACGAGATCAAGTA 0.388000 20 5 0 0 0.001168 0 0 KCNB1 3745 broad.mit.edu 37 20 48098557 48098557 + Missense_Mutation SNP G A A TCGA-D3-A2JA-06A-11D-A196-08 TCGA-D3-A2JA-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx f961ddcc-fb01-4ad1-974e-ccb2656a328e a6cc66c4-23a1-43c8-9989-be2c10aa4f63 g.chr20:48098557G>A uc002xur.1 - 0 627 c.461C>T c.(460-462)aCc>aTc p.T154I KCNB1_uc002xus.1_Missense_Mutation_p.T154I NM_004975 NP_004966 Q14721 KCNB1_HUMAN Homo sapiens potassium voltage-gated channel, Shab-related subfamily, member 1 (KCNB1), mRNA. 154 energy reserve metabolic process|regulation of insulin secretion voltage-gated potassium channel complex protein binding|voltage-gated potassium channel activity central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(8)|liver(1)|lung(22)|pancreas(2)|prostate(7)|skin(4)|stomach(1)|urinary_tract(1) 53 BRCA - Breast invasive adenocarcinoma(12;0.000405)|COAD - Colon adenocarcinoma(4;0.14)|Colorectal(8;0.166) CTCCCGTAGGGTCTCGGCCTC 0.577000 115 16 0 0 0.004007 0 0 ACTN2 88 broad.mit.edu 37 1 236917271 236917271 + Missense_Mutation SNP G A A rs138452803 byFrequency TCGA-D3-A2JA-06A-11D-A196-08 TCGA-D3-A2JA-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx f961ddcc-fb01-4ad1-974e-ccb2656a328e a6cc66c4-23a1-43c8-9989-be2c10aa4f63 g.chr1:236917271G>A uc001hyf.2 + 15 2068 c.1864G>A c.(1864-1866)Gat>Aat p.D622N ACTN2_uc001hyg.2_Missense_Mutation_p.D414N|ACTN2_uc009xgi.1_Missense_Mutation_p.D622N|ACTN2_uc010pxu.1_Missense_Mutation_p.D311N NM_001103 NP_001094 P35609 ACTN2_HUMAN Homo sapiens actinin, alpha 2 (ACTN2), mRNA. 622 focal adhesion assembly|microspike assembly|muscle filament sliding|platelet activation|platelet degranulation|protein homotetramerization|regulation of apoptosis|synaptic transmission Z disc|actin filament|cytosol|dendritic spine|extracellular region|filopodium|focal adhesion|nucleolus|platelet alpha granule lumen|pseudopodium FATZ 1 binding|ZASP binding|actin binding|calcium ion binding|identical protein binding|integrin binding|protein dimerization activity|structural constituent of muscle|titin Z domain binding|titin binding endometrium(4)|kidney(2)|large_intestine(15)|lung(55)|ovary(4)|prostate(3)|skin(3) 86 Ovarian(103;0.0634)|Breast(184;0.221) all_cancers(173;0.00661)|Acute lymphoblastic leukemia(190;0.109)|Prostate(94;0.174) OV - Ovarian serous cystadenocarcinoma(106;0.00168) GCCCATCCGCGATCAATCCCT 0.582000 78 49 0 0 0.003610 0 0 C16orf7 9605 broad.mit.edu 37 16 89777064 89777064 + Silent SNP G A A TCGA-D3-A2JA-06A-11D-A196-08 TCGA-D3-A2JA-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx f961ddcc-fb01-4ad1-974e-ccb2656a328e a6cc66c4-23a1-43c8-9989-be2c10aa4f63 g.chr16:89777064G>A uc002fom.1 - 9 1313 c.1188C>T c.(1186-1188)ggC>ggT p.G396G C16orf7_uc002fol.1_Silent_p.G326G|LOC100128881_uc002fon.1_5'Flank NM_004913 NP_004904 Q9Y2B5 CP007_HUMAN Homo sapiens chromosome 16 open reading frame 7 (C16orf7), mRNA. 396 ATP synthesis coupled proton transport GTPase activator activity|transporter activity breast(1)|lung(3)|ovary(1) 5 Lung NSC(15;2.19e-05)|all_lung(18;3.07e-05)|all_hematologic(23;0.0256) BRCA - Breast invasive adenocarcinoma(80;0.0273) GTACCCCACGGCCCCGGCCCT 0.682000 11 8 0 0 0.004482 0 0 LOC100130331 100130331 broad.mit.edu 37 1 238090463 238090463 + RNA SNP C T T TCGA-D3-A2JA-06A-11D-A196-08 TCGA-D3-A2JA-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx f961ddcc-fb01-4ad1-974e-ccb2656a328e a6cc66c4-23a1-43c8-9989-be2c10aa4f63 g.chr1:238090463C>T uc010pyc.2 + 11 c.1969C>T Homo sapiens POTE ankyrin domain family, member F pseudogene (LOC100130331), non-coding RNA. CTGCCCGAACCCCAAGGCCAA 0.582000 15 20 0 0 0.001882 0 0 TTN 7273 broad.mit.edu 37 2 179640134 179640134 + Missense_Mutation SNP C T T TCGA-D3-A2JA-06A-11D-A196-08 TCGA-D3-A2JA-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx f961ddcc-fb01-4ad1-974e-ccb2656a328e a6cc66c4-23a1-43c8-9989-be2c10aa4f63 g.chr2:179640134C>T uc021vsy.1 - 27 6682 c.6457G>A c.(6457-6459)Gcc>Acc p.A2153T TTN_uc021vsz.1_Missense_Mutation_p.A2107T|TTN_uc021vta.1_Missense_Mutation_p.A2107T|TTN_uc021vtb.1_Missense_Mutation_p.A2107T|TTN_uc002unb.2_Missense_Mutation_p.A2153T|AK123298_uc002unc.1_5'Flank NM_133378 NP_596869 Q8WZ42 TITIN_HUMAN Homo sapiens titin (TTN), transcript variant N2-A, mRNA. 2153 Ig-like 10. 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) ATGTTGATGGCTTTTACCATG 0.448000 50 18 0 0 0.004990 0 0 NLRP9 338321 broad.mit.edu 37 19 56244333 56244333 + Silent SNP C T T TCGA-D3-A2JA-06A-11D-A196-08 TCGA-D3-A2JA-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx f961ddcc-fb01-4ad1-974e-ccb2656a328e a6cc66c4-23a1-43c8-9989-be2c10aa4f63 g.chr19:56244333C>T uc002qly.3 - 1 892 c.864G>A c.(862-864)cgG>cgA p.R288R NM_176820 NP_789790 Q7RTR0 NALP9_HUMAN Homo sapiens NLR family, pyrin domain containing 9 (NLRP9), mRNA. 288 NACHT. cytoplasm ATP binding p.R288W(2)|p.R288Q(1) 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) GTTTTGGATGCCGCAACATAA 0.383000 36 32 0 0 0.008361 0 0 SGK223 157285 broad.mit.edu 37 8 8235332 8235332 + Missense_Mutation SNP G A A TCGA-D3-A2JA-06A-11D-A196-08 TCGA-D3-A2JA-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx f961ddcc-fb01-4ad1-974e-ccb2656a328e a6cc66c4-23a1-43c8-9989-be2c10aa4f63 g.chr8:8235332G>A uc003wsh.4 - 1 587 c.587C>T c.(586-588)cCt>cTt p.P196L NM_001080826 NP_001074295 Q86YV5 SG223_HUMAN Homo sapiens homolog of rat pragma of Rnd2 (SGK223), mRNA. 196 ATP binding|non-membrane spanning protein tyrosine kinase activity GTCTTGGTAAGGAAATGAGGG 0.627000 48 14 0 0 0.003163 0 0 OR1D2 4991 broad.mit.edu 37 17 2995981 2995982 + Silent DNP GG AA AA TCGA-D3-A2JA-06A-11D-A196-08 TCGA-D3-A2JA-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx f961ddcc-fb01-4ad1-974e-ccb2656a328e a6cc66c4-23a1-43c8-9989-be2c10aa4f63 g.chr17:2995981_2995982GG>AA uc010vrb.2 - 0 309_310 c.309_310CC>TT c.(307-312)ttcctg>ttTTtg p.103_104FL>FL NM_002548 NP_002539 P34982 OR1D2_HUMAN Homo sapiens olfactory receptor, family 1, subfamily D, member 2 (OR1D2), mRNA. 103 cellular component movement|chemotaxis|protein import into nucleus, translocation|sensory perception of smell|single fertilization integral to plasma membrane olfactory receptor activity p.Y102*(1) kidney(2)|large_intestine(2)|lung(10)|ovary(1) 15 AAGGAGACCAGGAAGTAGAGCT 0.545000 75 69 0 0 0.004672 0 0 SLC38A10 124565 broad.mit.edu 37 17 79250839 79250839 + Missense_Mutation SNP A G G TCGA-D3-A2JA-06A-11D-A196-08 TCGA-D3-A2JA-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx f961ddcc-fb01-4ad1-974e-ccb2656a328e a6cc66c4-23a1-43c8-9989-be2c10aa4f63 g.chr17:79250839A>G uc002jzz.1 - 6 1096 c.721T>C c.(721-723)Tac>Cac p.Y241H SLC38A10_uc002jzy.1_Missense_Mutation_p.Y159H|SLC38A10_uc002kab.3_Missense_Mutation_p.Y241H NM_001037984 NP_001033073 Q9HBR0 S38AA_HUMAN Homo sapiens solute carrier family 38, member 10 (SLC38A10), transcript variant 1, mRNA. 241 amino acid transport|sodium ion transport integral to membrane NS(1)|breast(2)|endometrium(4)|kidney(2)|large_intestine(2)|lung(7)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 23 all_neural(118;0.0804)|Melanoma(429;0.242) BRCA - Breast invasive adenocarcinoma(99;0.0272)|OV - Ovarian serous cystadenocarcinoma(97;0.117) ACCATGACGTAGAAGGTGGTG 0.592000 30 25 0 0 0.005443 0 0 ADAMTS14 140766 broad.mit.edu 37 10 72468534 72468534 + Splice_Site SNP C T T rs145552242 TCGA-D3-A2JA-06A-11D-A196-08 TCGA-D3-A2JA-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx f961ddcc-fb01-4ad1-974e-ccb2656a328e a6cc66c4-23a1-43c8-9989-be2c10aa4f63 g.chr10:72468534C>T uc001jrg.3 + 4 870 c.870_splice c.e4+1 p.I290_splice ADAMTS14_uc001jrh.3_Splice_Site_p.I290_splice NM_139155 NP_631894 Q8WXS8 ATS14_HUMAN Homo sapiens ADAM metallopeptidase with thrombospondin type 1 motif, 14 (ADAMTS14), transcript variant 1, mRNA. 290 Peptidase M12B. collagen catabolic process|proteolysis proteinaceous extracellular matrix metalloendopeptidase activity|zinc ion binding NS(1)|autonomic_ganglia(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(11)|lung(15)|ovary(7)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2) 50 TCATGAATATCGTGAGTGTCC 0.602000 53 14 0 0 0.003163 0 0 ADCY8 114 broad.mit.edu 37 8 131795943 131795943 + Missense_Mutation SNP G A A TCGA-D3-A2JA-06A-11D-A196-08 TCGA-D3-A2JA-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx f961ddcc-fb01-4ad1-974e-ccb2656a328e a6cc66c4-23a1-43c8-9989-be2c10aa4f63 g.chr8:131795943G>A uc003ytd.4 - 16 3518 c.3262C>T c.(3262-3264)Cgg>Tgg p.R1088W ADCY8_uc010mds.3_Missense_Mutation_p.R957W NM_001115 NP_001106 P40145 ADCY8_HUMAN Homo sapiens adenylate cyclase 8 (brain) (ADCY8), mRNA. 1088 activation of adenylate cyclase activity by G-protein signaling pathway|activation of phospholipase C activity|activation of protein kinase A activity|cellular response to glucagon stimulus|energy reserve metabolic process|inhibition of adenylate cyclase activity by G-protein signaling pathway|nerve growth factor receptor signaling pathway|synaptic transmission|transmembrane transport|water transport integral to membrane|membrane fraction|plasma membrane ATP binding|calcium- and calmodulin-responsive adenylate cyclase activity|metal ion binding NS(1)|breast(4)|central_nervous_system(2)|cervix(1)|endometrium(10)|kidney(5)|large_intestine(21)|lung(67)|pancreas(1)|prostate(3)|skin(12)|upper_aerodigestive_tract(5)|urinary_tract(2) 134 Esophageal squamous(12;0.00693)|Ovarian(258;0.00707)|Acute lymphoblastic leukemia(118;0.155) BRCA - Breast invasive adenocarcinoma(115;0.000538) TCACCAATCCGGAGTTCAAAA 0.512000 HNSCC(32;0.087) 24 21 0 0 0.001882 0 0 STAB2 55576 broad.mit.edu 37 12 104138991 104138991 + Silent SNP C T T TCGA-D3-A2JA-06A-11D-A196-08 TCGA-D3-A2JA-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx f961ddcc-fb01-4ad1-974e-ccb2656a328e a6cc66c4-23a1-43c8-9989-be2c10aa4f63 g.chr12:104138991C>T uc001tjw.3 + 56 6258 c.6072C>T c.(6070-6072)atC>atT p.I2024I STAB2_uc009zug.3_Non-coding_Transcript NM_017564 NP_060034 Q8WWQ8 STAB2_HUMAN Homo sapiens stabilin 2 (STAB2), mRNA. 2024 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 ATGATGGCATCACGGGCTCCG 0.592000 54 14 0 0 0.001855 0 0 OR6C4 341418 broad.mit.edu 37 12 55945560 55945560 + Missense_Mutation SNP G A A TCGA-D3-A2JA-06A-11D-A196-08 TCGA-D3-A2JA-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx f961ddcc-fb01-4ad1-974e-ccb2656a328e a6cc66c4-23a1-43c8-9989-be2c10aa4f63 g.chr12:55945560G>A uc010spp.2 + 0 550 c.550G>A c.(550-552)Gag>Aag p.E184K NM_001005494 NP_001005494 Q8NGE1 OR6C4_HUMAN Homo sapiens olfactory receptor, family 6, subfamily C, member 4 (OR6C4), mRNA. 184 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity endometrium(1)|kidney(1)|large_intestine(3)|lung(5)|skin(1) 11 GCCTCTCGTGGAGCTTGCCTG 0.473000 77 25 0 0 0.004656 0 0 NPAS1 4861 broad.mit.edu 37 19 47542741 47542741 + Missense_Mutation SNP C T T TCGA-D3-A2JA-06A-11D-A196-08 TCGA-D3-A2JA-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx f961ddcc-fb01-4ad1-974e-ccb2656a328e a6cc66c4-23a1-43c8-9989-be2c10aa4f63 g.chr19:47542741C>T uc002pfw.3 + 7 1077 c.881C>T c.(880-882)cCc>cTc p.P294L NPAS1_uc002pfy.3_Missense_Mutation_p.P294L|NPAS1_uc010xyj.2_Missense_Mutation_p.P118L NM_002517 NP_002508 Q99742 NPAS1_HUMAN Homo sapiens neuronal PAS domain protein 1 (NPAS1), mRNA. 294 PAS 2. central nervous system development nucleus DNA binding|sequence-specific DNA binding transcription factor activity|signal transducer activity endometrium(2)|kidney(1)|large_intestine(2)|lung(1) 6 all_cancers(25;4.31e-08)|all_epithelial(76;2.96e-06)|all_lung(116;7.86e-06)|Lung NSC(112;2.31e-05)|all_neural(266;0.026)|Ovarian(192;0.0392)|Breast(70;0.102) all cancers(93;6.02e-05)|OV - Ovarian serous cystadenocarcinoma(262;7.35e-05)|Epithelial(262;0.00389)|GBM - Glioblastoma multiforme(486;0.0252) CCCCCGGCCCCCCTGGCTGAG 0.667000 37 6 0 0 0.001984 0 0 MED12L 116931 broad.mit.edu 37 3 150908586 150908586 + Missense_Mutation SNP C G G TCGA-D3-A2JA-06A-11D-A196-08 TCGA-D3-A2JA-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx f961ddcc-fb01-4ad1-974e-ccb2656a328e a6cc66c4-23a1-43c8-9989-be2c10aa4f63 g.chr3:150908586C>G uc003eyp.3 + 12 1965 c.1836C>G c.(1834-1836)ttC>ttG p.F612L MED12L_uc011bnz.2_Missense_Mutation_p.F472L|MED12L_uc003eyn.3_Missense_Mutation_p.F612L|MED12L_uc003eyo.3_Missense_Mutation_p.F612L NM_053002 NP_443728 Q86YW9 MD12L_HUMAN Homo sapiens mediator complex subunit 12-like (MED12L), mRNA. 612 regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent mediator complex NS(1)|breast(3)|central_nervous_system(3)|cervix(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|kidney(9)|large_intestine(27)|lung(50)|ovary(6)|prostate(3)|skin(4)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(1) 128 LUSC - Lung squamous cell carcinoma(72;0.0394)|Lung(72;0.0517) ATGATGTCTTCTCCCATGACG 0.488000 35 26 0 0 0.005443 0 0 AADACL3 126767 broad.mit.edu 37 1 12785679 12785679 + Missense_Mutation SNP G A A TCGA-D3-A2JA-06A-11D-A196-08 TCGA-D3-A2JA-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx f961ddcc-fb01-4ad1-974e-ccb2656a328e a6cc66c4-23a1-43c8-9989-be2c10aa4f63 g.chr1:12785679G>A uc009vnn.1 + 3 1002 c.769G>A c.(769-771)Gaa>Aaa p.E257K AADACL3_uc001aug.1_Missense_Mutation_p.E187K NM_001103170 NP_001096640 Q5VUY0 ADCL3_HUMAN Homo sapiens arylacetamide deacetylase-like 3 (AADACL3), transcript variant 1, mRNA. 257 hydrolase activity breast(1)|kidney(1)|large_intestine(2)|lung(8)|ovary(1)|prostate(1)|skin(1) 15 Ovarian(185;0.249) Lung NSC(185;8.27e-05)|all_lung(284;9.47e-05)|Renal(390;0.000147)|Colorectal(325;0.000583)|Breast(348;0.000596)|Ovarian(437;0.00965)|Hepatocellular(190;0.0245)|Myeloproliferative disorder(586;0.0255) UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;6.13e-06)|COAD - Colon adenocarcinoma(227;0.000274)|BRCA - Breast invasive adenocarcinoma(304;0.000311)|Kidney(185;0.00217)|KIRC - Kidney renal clear cell carcinoma(229;0.00579)|STAD - Stomach adenocarcinoma(313;0.00743)|READ - Rectum adenocarcinoma(331;0.0649) TGCTTACTTGGAAGTAAGTGT 0.502000 111 34 0 0 0.003755 0 0 POTEH 23784 broad.mit.edu 37 22 16279248 16279248 + Silent SNP C T T TCGA-D3-A2JA-06A-11D-A196-08 TCGA-D3-A2JA-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx f961ddcc-fb01-4ad1-974e-ccb2656a328e a6cc66c4-23a1-43c8-9989-be2c10aa4f63 g.chr22:16279248C>T uc010gqp.2 - 3 1027 c.975G>A c.(973-975)gtG>gtA p.V325V POTEH_uc002zlg.1_Non-coding_Transcript|POTEH_uc002zlh.1_Silent_p.V44V|POTEH_uc002zlj.1_Silent_p.V160V NM_001136213 NP_001129685 Q6S545 POTEH_HUMAN Homo sapiens POTE ankyrin domain family, member H (POTEH), mRNA. 325 NS(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|lung(20)|ovary(1)|skin(7)|urinary_tract(2) 37 TTAAAAATTTCACCACTTGCT 0.328000 609 44 0 0 0.003610 0 0 FNDC9 408263 broad.mit.edu 37 5 156770010 156770010 + Missense_Mutation SNP G A A TCGA-D3-A2JA-06A-11D-A196-08 TCGA-D3-A2JA-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx f961ddcc-fb01-4ad1-974e-ccb2656a328e a6cc66c4-23a1-43c8-9989-be2c10aa4f63 g.chr5:156770010G>A uc003lwu.2 - 1 723 c.535C>T c.(535-537)Ccc>Tcc p.P179S CYFIP2_uc021ygm.1_Intron|CYFIP2_uc011ddn.2_Intron|CYFIP2_uc011ddo.2_Intron|CYFIP2_uc021ygn.1_Intron|CYFIP2_uc021ygo.1_Intron|CYFIP2_uc003lwt.3_Intron|CYFIP2_uc011ddp.2_Intron|FNDC9_uc021ygp.1_Missense_Mutation_p.P179S NM_001001343 NP_001001343 Q8TBE3 FNDC9_HUMAN Homo sapiens fibronectin type III domain containing 9 (FNDC9), mRNA. 179 integral to membrane central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(1)|prostate(1)|skin(1)|urinary_tract(1) 9 TCCACCAGGGGGAGCCCCTGC 0.622000 OREG0016977 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 74 24 0 0 0.002780 0 0 GIMAP6 474344 broad.mit.edu 37 7 150325570 150325570 + Missense_Mutation SNP C T T TCGA-D3-A2JA-06A-11D-A196-08 TCGA-D3-A2JA-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx f961ddcc-fb01-4ad1-974e-ccb2656a328e a6cc66c4-23a1-43c8-9989-be2c10aa4f63 g.chr7:150325570C>T uc022apv.1 - 2 806 c.326G>A c.(325-327)aGg>aAg p.R109K GIMAP6_uc003whn.3_Missense_Mutation_p.R39K|GIMAP6_uc003whm.3_Intron NM_001244072 NP_001231001 Q6P9H5 GIMA6_HUMAN Homo sapiens GTPase, IMAP family member 6 (GIMAP6), transcript variant 2, mRNA. 39 GTP binding endometrium(4)|kidney(1)|large_intestine(6)|lung(11)|ovary(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1) 29 OV - Ovarian serous cystadenocarcinoma(82;0.0145) UCEC - Uterine corpus endometrioid carcinoma (81;0.168) CCTCAGTCTCCTTGGGGTCTT 0.517000 284 133 0 0 0.003610 0 0 PLCE1 51196 broad.mit.edu 37 10 95931163 95931163 + Silent SNP C T T TCGA-D3-A2JA-06A-11D-A196-08 TCGA-D3-A2JA-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx f961ddcc-fb01-4ad1-974e-ccb2656a328e a6cc66c4-23a1-43c8-9989-be2c10aa4f63 g.chr10:95931163C>T uc001kjk.3 + 3 2353 c.1719C>T c.(1717-1719)ccC>ccT p.P573P PLCE1_uc010qnx.2_Silent_p.P573P|PLCE1_uc001kjm.3_Silent_p.P265P NM_016341 NP_057425 Q9P212 PLCE1_HUMAN Homo sapiens phospholipase C, epsilon 1 (PLCE1), transcript variant 1, mRNA. 573 Ras-GEF. 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) GCTCCTTGCCCTGCCTCAAAG 0.507000 79 31 0 0 0.007291 0 0 TRANK1 9881 broad.mit.edu 37 3 36899476 36899476 + Silent SNP G A A TCGA-D3-A2JA-06A-11D-A196-08 TCGA-D3-A2JA-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx f961ddcc-fb01-4ad1-974e-ccb2656a328e a6cc66c4-23a1-43c8-9989-be2c10aa4f63 g.chr3:36899476G>A uc003cgj.3 - 11 1853 c.1605C>T c.(1603-1605)ttC>ttT p.F535F NM_014831 NP_055646 O15050 TRNK1_HUMAN Homo sapiens tetratricopeptide repeat and ankyrin repeat containing 1 (TRANK1), mRNA. 535 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 TGAGGTAGTCGAATTCAGTGG 0.498000 32 14 0 0 0.002450 0 0 TXNDC2 84203 broad.mit.edu 37 18 9887001 9887001 + Silent SNP G A A TCGA-D3-A2JA-06A-11D-A196-08 TCGA-D3-A2JA-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx f961ddcc-fb01-4ad1-974e-ccb2656a328e a6cc66c4-23a1-43c8-9989-be2c10aa4f63 g.chr18:9887001G>A uc002koi.4 + 1 974 c.525G>A c.(523-525)aaG>aaA p.K175K TXNDC2_uc002koh.4_Silent_p.K108K|TXNDC2_uc021ugx.1_Silent_p.K108K NM_001098529 NP_115619 Q86VQ3 TXND2_HUMAN Homo sapiens thioredoxin domain containing 2 (spermatozoa) (TXNDC2), transcript variant 2, mRNA. 175 22 X 15 AA approximate tandem repeat of Q-P-K-X-G-D-I-P-K-S-[PS]-E-[KE]-X-I. cell differentiation|cell redox homeostasis|glycerol ether metabolic process|multicellular organismal development|spermatogenesis cytoplasm electron carrier activity|nutrient reservoir activity|protein disulfide oxidoreductase activity|thioredoxin-disulfide reductase activity NS(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(9)|ovary(2)|pancreas(1)|skin(7)|urinary_tract(1) 31 GCCAGCCCAAGGAGGGTGACA 0.562000 94 38 0 0 0.004878 0 0 NXF1 10482 broad.mit.edu 37 11 62562463 62562464 + Missense_Mutation DNP CC TT TT TCGA-D3-A2JA-06A-11D-A196-08 TCGA-D3-A2JA-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx f961ddcc-fb01-4ad1-974e-ccb2656a328e a6cc66c4-23a1-43c8-9989-be2c10aa4f63 g.chr11:62562463_62562464CC>TT uc001nvf.1 - 17 1656_1657 c.1520_1521GG>AA c.(1519-1521)cgg>cAA p.R507Q TMEM223_uc001nve.2_5'Flank|NXF1_uc001nvg.1_3'UTR|NXF1_uc009yog.1_Missense_Mutation_p.R550Q NM_006362 NP_006353 Q9UBU9 NXF1_HUMAN Homo sapiens nuclear RNA export factor 1 (NXF1), transcript variant 1, mRNA. 507 NTF2. gene expression|interspecies interaction between organisms cytosol|nuclear speck nucleotide binding|protein binding breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(4)|kidney(2)|large_intestine(9)|lung(13)|ovary(1)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1) 39 GCAAAGAATCCCGGGACTTTCC 0.436000 26 32 0 0 0.004672 0 0 GPR139 124274 broad.mit.edu 37 16 20043470 20043470 + Missense_Mutation SNP G A A TCGA-D3-A2JA-06A-11D-A196-08 TCGA-D3-A2JA-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx f961ddcc-fb01-4ad1-974e-ccb2656a328e a6cc66c4-23a1-43c8-9989-be2c10aa4f63 g.chr16:20043470G>A uc002dgu.1 - 1 811 c.649C>T c.(649-651)Cgt>Tgt p.R217C GPR139_uc010vaw.1_Missense_Mutation_p.R124C NM_001002911 NP_001002911 Q6DWJ6 GP139_HUMAN Homo sapiens G protein-coupled receptor 139 (GPR139), mRNA. 217 integral to membrane|plasma membrane autonomic_ganglia(1)|central_nervous_system(1)|kidney(1)|large_intestine(4)|lung(17)|ovary(2)|prostate(3)|upper_aerodigestive_tract(1) 30 CCACGGAGACGAAAATTGCTC 0.507000 39 17 0 0 0.004007 0 0 CNTNAP4 85445 broad.mit.edu 37 16 76528908 76528908 + Missense_Mutation SNP G A A TCGA-D3-A2JA-06A-11D-A196-08 TCGA-D3-A2JA-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx f961ddcc-fb01-4ad1-974e-ccb2656a328e a6cc66c4-23a1-43c8-9989-be2c10aa4f63 g.chr16:76528908G>A uc002fex.1 + 12 2330 c.2191G>A c.(2191-2193)Gga>Aga p.G731R CNTNAP4_uc002feu.1_Missense_Mutation_p.G727R|CNTNAP4_uc002fev.1_Missense_Mutation_p.G592R|CNTNAP4_uc010chb.1_Missense_Mutation_p.G655R|CNTNAP4_uc002few.2_Missense_Mutation_p.G703R NM_033401 NP_207837 Q9C0A0 CNTP4_HUMAN Homo sapiens contactin associated protein-like 4 (CNTNAP4), transcript variant 1, mRNA. 728 Fibrinogen C-terminal. 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 TGGATTAGAGGGAAACTGCAT 0.403000 83 24 0 0 0.003954 0 0 MECOM 2122 broad.mit.edu 37 3 168845762 168845762 + Missense_Mutation SNP T A A rs145122238 TCGA-D3-A2JA-06A-11D-A196-08 TCGA-D3-A2JA-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx f961ddcc-fb01-4ad1-974e-ccb2656a328e a6cc66c4-23a1-43c8-9989-be2c10aa4f63 g.chr3:168845762T>A uc011bpj.1 - 4 1103 c.700A>T c.(700-702)Act>Tct p.T234S MECOM_uc010hwk.1_Missense_Mutation_p.T69S|MECOM_uc003ffj.3_Missense_Mutation_p.T110S|MECOM_uc003ffi.3_Missense_Mutation_p.T46S|MECOM_uc011bpi.1_Missense_Mutation_p.T46S|MECOM_uc003ffn.3_Missense_Mutation_p.T46S|MECOM_uc003ffk.2_Missense_Mutation_p.T46S|MECOM_uc003ffl.2_Missense_Mutation_p.T206S|MECOM_uc011bpk.1_Missense_Mutation_p.T46S|MECOM_uc010hwn.2_Missense_Mutation_p.T234S|MECOM_uc003ffm.1_Missense_Mutation_p.T110S 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 GAGTGAGGAGTACTGCATGGA 0.433000 72 43 0 0 0.007835 0 0 ENPP3 5169 broad.mit.edu 37 6 131958601 131958601 + Splice_Site SNP T A A TCGA-D3-A2JA-06A-11D-A196-08 TCGA-D3-A2JA-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx f961ddcc-fb01-4ad1-974e-ccb2656a328e a6cc66c4-23a1-43c8-9989-be2c10aa4f63 g.chr6:131958601T>A uc003qcu.4 + 2 425 c.78_splice c.e2+1 p.I26_splice ENPP3_uc010kfn.1_Splice_Site|ENPP3_uc011ecc.1_Splice_Site|ENPP3_uc010kfo.1_Splice_Site|ENPP3_uc010kfp.1_Splice_Site|ENPP3_uc003qcv.3_Splice_Site_p.I26_splice|ENPP3_uc010kfq.3_Splice_Site NM_005021 NP_005012 O14638 ENPP3_HUMAN Homo sapiens ectonucleotide pyrophosphatase/phosphodiesterase 3 (ENPP3), mRNA. 26 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 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) ATAGCTTGCATTGTAAGTACA 0.313000 23 28 0 0 0.005443 0 0 ST6GAL2 84620 broad.mit.edu 37 2 107460106 107460106 + Missense_Mutation SNP C T T TCGA-D3-A2JA-06A-11D-A196-08 TCGA-D3-A2JA-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx f961ddcc-fb01-4ad1-974e-ccb2656a328e a6cc66c4-23a1-43c8-9989-be2c10aa4f63 g.chr2:107460106C>T uc002tdq.3 - 1 447 c.328G>A c.(328-330)Gag>Aag p.E110K ST6GAL2_uc002tdr.3_Missense_Mutation_p.E110K|ST6GAL2_uc002tds.3_Missense_Mutation_p.E110K NM_001142351 NP_115917 Q96JF0 SIAT2_HUMAN Homo sapiens ST6 beta-galactosamide alpha-2,6-sialyltranferase 2 (ST6GAL2), transcript variant 2, mRNA. 110 growth|multicellular organismal development|oligosaccharide metabolic process|protein glycosylation Golgi cisterna membrane|integral to Golgi membrane beta-galactoside alpha-2,6-sialyltransferase activity autonomic_ganglia(1)|breast(1)|endometrium(2)|kidney(1)|large_intestine(8)|liver(1)|lung(30)|ovary(5)|pancreas(6)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2) 65 GAAAAAAACTCTTTATGTTCA 0.567000 82 145 0 0 0.003610 0 0 HOXA2 3199 broad.mit.edu 37 7 27140593 27140593 + Missense_Mutation SNP G A A TCGA-D3-A2JA-06A-11D-A196-08 TCGA-D3-A2JA-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx f961ddcc-fb01-4ad1-974e-ccb2656a328e a6cc66c4-23a1-43c8-9989-be2c10aa4f63 g.chr7:27140593G>A uc003syh.3 - 1 1158 c.883C>T c.(883-885)Ccc>Tcc p.P295S HOXA2_uc022aaq.1_3'UTR NM_006735 NP_006726 O43364 HXA2_HUMAN Homo sapiens homeobox A2 (HOXA2), mRNA. 295 nucleus sequence-specific DNA binding transcription factor activity breast(3)|cervix(1)|kidney(1)|large_intestine(6)|lung(9)|ovary(1)|skin(1) 22 AAGCAGTTGGGAACAGTGGGT 0.493000 93 50 0 0 0.003610 0 0 KCNJ3 3760 broad.mit.edu 37 2 155711624 155711624 + Missense_Mutation SNP G A A TCGA-D3-A2JA-06A-11D-A196-08 TCGA-D3-A2JA-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx f961ddcc-fb01-4ad1-974e-ccb2656a328e a6cc66c4-23a1-43c8-9989-be2c10aa4f63 g.chr2:155711624G>A uc002tyv.1 + 2 1500 c.1305G>A c.(1303-1305)atG>atA p.M435I KCNJ3_uc010zce.1_3'UTR NM_002239 NP_002230 P48549 IRK3_HUMAN Homo sapiens potassium inwardly-rectifying channel, subfamily J, member 3 (KCNJ3), mRNA. 435 synaptic transmission voltage-gated potassium channel complex G-protein activated inward rectifier potassium channel activity|protein binding breast(2)|endometrium(2)|kidney(3)|large_intestine(9)|lung(30)|pancreas(1)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1) 54 Halothane(DB01159) ACTTGCCCATGAAACTTCAAC 0.428000 67 50 0 0 0.003610 0 0 EPHA3 2042 broad.mit.edu 37 3 89456425 89456425 + Missense_Mutation SNP C T T TCGA-D3-A2JA-06A-11D-A196-08 TCGA-D3-A2JA-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx f961ddcc-fb01-4ad1-974e-ccb2656a328e a6cc66c4-23a1-43c8-9989-be2c10aa4f63 g.chr3:89456425C>T uc003dqy.3 + 7 1826 c.1601C>T c.(1600-1602)tCc>tTc p.S534F EPHA3_uc021xbf.1_Missense_Mutation_p.S534F NM_005233 NP_005224 P29320 EPHA3_HUMAN Homo sapiens EPH receptor A3 (EPHA3), transcript variant 1, mRNA. 534 extracellular region|integral to plasma membrane ATP binding NS(1)|breast(4)|central_nervous_system(4)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(26)|liver(3)|lung(67)|ovary(7)|pancreas(1)|prostate(4)|skin(8)|stomach(1)|upper_aerodigestive_tract(5) 139 all_cancers(8;0.0406)|Melanoma(1;0.00142)|all_epithelial(1;0.0612) Lung NSC(201;0.0782) LUSC - Lung squamous cell carcinoma(29;0.00344)|Lung(72;0.00942) ACAGCTTTCTCCATCTCTGGT 0.368000 TSP Lung(6;0.00050) 28 18 0 0 0.008871 0 0 ZNF208 7757 broad.mit.edu 37 19 22156959 22156959 + Missense_Mutation SNP C T T TCGA-D3-A2JA-06A-11D-A196-08 TCGA-D3-A2JA-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx f961ddcc-fb01-4ad1-974e-ccb2656a328e a6cc66c4-23a1-43c8-9989-be2c10aa4f63 g.chr19:22156959C>T uc021urr.1 - 3 1026 c.877G>A c.(877-879)Gcc>Acc p.A293T 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) TTACTAAAGGCTTTGCCACAT 0.398000 42 12 0 0 0.002450 0 0 NPHS1 4868 broad.mit.edu 37 19 36322622 36322622 + Missense_Mutation SNP C T T TCGA-D3-A2JA-06A-11D-A196-08 TCGA-D3-A2JA-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx f961ddcc-fb01-4ad1-974e-ccb2656a328e a6cc66c4-23a1-43c8-9989-be2c10aa4f63 g.chr19:36322622C>T uc002oby.3 - 23 3365 c.3209G>A c.(3208-3210)gGg>gAg p.G1070E NPHS1_uc010eem.1_Intron NM_004646 NP_004637 O60500 NPHN_HUMAN Homo sapiens nephrosis 1, congenital, Finnish type (nephrin) (NPHS1), mRNA. 1070 cell adhesion|excretion|muscle organ development integral to plasma membrane NS(2)|breast(1)|cervix(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(16)|liver(1)|lung(26)|ovary(5)|prostate(1)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(1) 74 all_lung(56;7.14e-07)|Lung NSC(56;1.12e-06)|Esophageal squamous(110;0.162) LUSC - Lung squamous cell carcinoma(66;0.0515) CAGAAGCCCCCCAAGAGCGAA 0.647000 2 4 0 0 0.001168 0 0 TRBV29-1 28558 broad.mit.edu 37 7 142448446 142448446 + Missense_Mutation SNP G A A TCGA-D3-A2JA-06A-11D-A196-08 TCGA-D3-A2JA-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx f961ddcc-fb01-4ad1-974e-ccb2656a328e a6cc66c4-23a1-43c8-9989-be2c10aa4f63 g.chr7:142448446G>A uc011ksl.1 + 1 71 c.40G>A c.(40-42)Gtg>Atg p.V14M 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_Intron|TRBV29-1_uc022anu.1_Missense_Mutation_p.V10M SubName: Full=V_segment translation product; Flags: Fragment; ACTAGGCTCTGTGTTCAGTGC 0.502000 90 46 0 0 0.003610 0 0 TOP2B 7155 broad.mit.edu 37 3 25640942 25640942 + Missense_Mutation SNP G A A TCGA-D3-A2JA-06A-11D-A196-08 TCGA-D3-A2JA-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx f961ddcc-fb01-4ad1-974e-ccb2656a328e a6cc66c4-23a1-43c8-9989-be2c10aa4f63 g.chr3:25640942G>A uc003cdj.2 - 34 4722 c.4679C>T c.(4678-4680)tCc>tTc p.S1560F TOP2B_uc011awm.1_Missense_Mutation_p.S417F NM_001068 NP_001059 Q02880 TOP2B_HUMAN Homo sapiens topoisomerase (DNA) II beta 180kDa (TOP2B), mRNA. 1565 DNA topological change|DNA-dependent DNA replication|mitotic cell cycle G2/M transition decatenation checkpoint|mitotic recombination|resolution of meiotic recombination intermediates|sister chromatid segregation DNA topoisomerase complex (ATP-hydrolyzing)|WINAC complex|cytosol|nucleolus|nucleoplasm|synaptonemal complex ATP binding|DNA topoisomerase (ATP-hydrolyzing) activity|DNA-dependent ATPase activity|chromatin binding|histone deacetylase binding|protein C-terminus binding|protein heterodimerization activity|protein kinase C binding|sequence-specific DNA binding transcription factor activity breast(2)|endometrium(5)|kidney(1)|large_intestine(10)|lung(14)|ovary(1)|skin(2)|stomach(1) 36 TGTTGTTTTGGATGTTTTCCT 0.383000 11 12 0 0 0.002450 0 0 RANBP3L 202151 broad.mit.edu 37 5 36253797 36253797 + Missense_Mutation SNP T C C TCGA-D3-A2JA-06A-11D-A196-08 TCGA-D3-A2JA-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx f961ddcc-fb01-4ad1-974e-ccb2656a328e a6cc66c4-23a1-43c8-9989-be2c10aa4f63 g.chr5:36253797T>C uc011cow.2 - 12 1687 c.1194A>G c.(1192-1194)atA>atG p.I398M RANBP3L_uc003jkh.3_Missense_Mutation_p.I373M NM_001161429 NP_001154901 Q86VV4 RNB3L_HUMAN Homo sapiens RAN binding protein 3-like (RANBP3L), transcript variant 1, mRNA. 373 RanBD1. intracellular transport endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(5)|ovary(1)|urinary_tract(1) 16 all_lung(31;4.52e-05) Epithelial(62;0.0543)|Lung(74;0.111)|COAD - Colon adenocarcinoma(61;0.14)|all cancers(62;0.149)|Colorectal(62;0.202) CAGTAGCTGTTATTCGTACAT 0.348000 57 23 0 0 0.001882 0 0 IQSEC1 9922 broad.mit.edu 37 3 12950932 12950932 + Missense_Mutation SNP A C C TCGA-D3-A2JA-06A-11D-A196-08 TCGA-D3-A2JA-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx f961ddcc-fb01-4ad1-974e-ccb2656a328e a6cc66c4-23a1-43c8-9989-be2c10aa4f63 g.chr3:12950932A>C uc003bxt.2 - 10 2470 c.2461T>G c.(2461-2463)Tac>Gac p.Y821D IQSEC1_uc003bxu.3_Missense_Mutation_p.Y699D|IQSEC1_uc011auw.1_Missense_Mutation_p.Y807D NM_014869 NP_055684 Q6DN90 IQEC1_HUMAN Homo sapiens IQ motif and Sec7 domain 1 (IQSEC1), transcript variant 2, mRNA. 821 PH. regulation of ARF protein signal transduction cytoplasm|nucleus ARF guanyl-nucleotide exchange factor activity breast(2)|endometrium(5)|kidney(1)|large_intestine(5)|lung(6)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 24 CCATTGGGGTAGTCTGCAAAA 0.537000 42 38 0 0 0.006999 0 0 GNAS 2778 broad.mit.edu 37 20 57430019 57430019 + Missense_Mutation SNP G A A TCGA-D3-A2JA-06A-11D-A196-08 TCGA-D3-A2JA-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx f961ddcc-fb01-4ad1-974e-ccb2656a328e a6cc66c4-23a1-43c8-9989-be2c10aa4f63 g.chr20:57430019G>A uc002xzw.3 + 0 1984 c.1699G>A c.(1699-1701)Gaa>Aaa p.E567K 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) GTACTACGATGAAGGGGTGGC 0.687000 Mis pituitary adenoma """McCune-Albright syndrome; pseudohypoparathyroidism, type IA""" TSP Lung(22;0.16) 18 12 0 0 0.002450 0 0 EPAS1 2034 broad.mit.edu 37 2 46607658 46607658 + Missense_Mutation SNP C T T TCGA-D3-A2JA-06A-11D-A196-08 TCGA-D3-A2JA-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx f961ddcc-fb01-4ad1-974e-ccb2656a328e a6cc66c4-23a1-43c8-9989-be2c10aa4f63 g.chr2:46607658C>T uc002ruv.3 + 11 2357 c.1847C>T c.(1846-1848)tCc>tTc p.S616F EPAS1_uc002ruw.3_Missense_Mutation_p.S82F NM_001430 NP_001421 Q99814 EPAS1_HUMAN Homo sapiens endothelial PAS domain protein 1 (EPAS1), mRNA. 616 angiogenesis|myoblast cell fate commitment|positive regulation of transcription from RNA polymerase II promoter|response to hypoxia transcription factor complex histone acetyltransferase binding|protein heterodimerization activity|sequence-specific enhancer binding RNA polymerase II transcription factor activity|signal transducer activity|transcription coactivator activity|transcription factor binding NS(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|liver(2)|lung(11)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1) 39 all_hematologic(82;0.152)|Acute lymphoblastic leukemia(82;0.18) LUSC - Lung squamous cell carcinoma(58;0.151) AGCAAAGCATCCCTGCCACCG 0.592000 98 54 0 0 0.003610 0 0 PCLO 27445 broad.mit.edu 37 7 82545198 82545198 + Missense_Mutation SNP T C C TCGA-D3-A2JA-06A-11D-A196-08 TCGA-D3-A2JA-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx f961ddcc-fb01-4ad1-974e-ccb2656a328e a6cc66c4-23a1-43c8-9989-be2c10aa4f63 g.chr7:82545198T>C uc003uhx.2 - 6 12393 c.12104A>G c.(12103-12105)tAt>tGt p.Y4035C PCLO_uc003uhv.2_Missense_Mutation_p.Y4035C|PCLO_uc010lec.3_Missense_Mutation_p.Y1000C NM_033026 NP_149015 Q9Y6V0 PCLO_HUMAN Homo sapiens piccolo (presynaptic cytomatrix protein) (PCLO), transcript variant 1, mRNA. 3966 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 AATATCTGCATAGAAAGAATC 0.403000 77 39 0 0 0.004289 0 0 VPS54 51542 broad.mit.edu 37 2 64160857 64160857 + Silent SNP G A A TCGA-D3-A2JA-06A-11D-A196-08 TCGA-D3-A2JA-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx f961ddcc-fb01-4ad1-974e-ccb2656a328e a6cc66c4-23a1-43c8-9989-be2c10aa4f63 g.chr2:64160857G>A uc002scq.3 - 11 1852 c.1689C>T c.(1687-1689)tcC>tcT p.S563S VPS54_uc002scp.3_Silent_p.S551S|VPS54_uc002sco.3_Silent_p.S48S|VPS54_uc010fct.3_Silent_p.S410S NM_016516 NP_057600 Q9P1Q0 VPS54_HUMAN Homo sapiens vacuolar protein sorting 54 homolog (S. cerevisiae) (VPS54), transcript variant 1, mRNA. 563 protein transport|retrograde transport, endosome to Golgi endometrium(3)|kidney(4)|large_intestine(8)|lung(10)|ovary(1)|upper_aerodigestive_tract(1) 27 GCTCTTTGCTGGATGAAGAAT 0.418000 47 30 0 0 0.003755 0 0 SSTR3 6753 broad.mit.edu 37 22 37603254 37603254 + Missense_Mutation SNP C T T TCGA-D3-A2JA-06A-11D-A196-08 TCGA-D3-A2JA-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx f961ddcc-fb01-4ad1-974e-ccb2656a328e a6cc66c4-23a1-43c8-9989-be2c10aa4f63 g.chr22:37603254C>T uc003ara.3 - 1 651 c.589G>A c.(589-591)Gag>Aag p.E197K SSTR3_uc003arb.3_Missense_Mutation_p.E197K|SSTR3_uc021wos.1_Missense_Mutation_p.E197K NM_001051 NP_001042 P32745 SSR3_HUMAN Homo sapiens somatostatin receptor 3 (SSTR3), mRNA. 197 G-protein signaling, coupled to cyclic nucleotide second messenger|induction of apoptosis by hormones|negative regulation of cell proliferation integral to plasma membrane|nonmotile primary cilium somatostatin receptor activity NS(1)|breast(1)|kidney(1)|large_intestine(1)|lung(9)|ovary(1) 14 GCCGCCGGCTCGGGCCACTGC 0.692000 15 8 0 0 0.004482 0 0 abParts 0 broad.mit.edu 37 14 107062278 107062278 + RNA SNP C T T TCGA-D3-A2JA-06A-11D-A196-08 TCGA-D3-A2JA-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx f961ddcc-fb01-4ad1-974e-ccb2656a328e a6cc66c4-23a1-43c8-9989-be2c10aa4f63 g.chr14:107062278C>T uc021ser.1 - 150 c.6708G>A Parts of antibodies, mostly variable regions. TTTCCCCAATCCACTCCAGCC 0.567000 37 21 0 0 0.001523 0 0 FRMPD2 143162 broad.mit.edu 37 10 49393605 49393605 + Missense_Mutation SNP G A A TCGA-D3-A2JA-06A-11D-A196-08 TCGA-D3-A2JA-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx f961ddcc-fb01-4ad1-974e-ccb2656a328e a6cc66c4-23a1-43c8-9989-be2c10aa4f63 g.chr10:49393605G>A uc001jgi.3 - 17 2681 c.2350C>T c.(2350-2352)Cgt>Tgt p.R784C FRMPD2_uc001jgh.3_Missense_Mutation_p.R752C|FRMPD2_uc001jgj.3_Missense_Mutation_p.R753C NM_001018071 NP_001018081 Q68DX3 FRPD2_HUMAN Homo sapiens FERM and PDZ domain containing 2 (FRMPD2), transcript variant 3, mRNA. 784 PDZ 1. tight junction assembly basolateral plasma membrane|cytoplasm|cytoskeleton|tight junction 1-phosphatidylinositol binding|protein binding p.R784C(2) NS(2)|autonomic_ganglia(2)|breast(5)|cervix(1)|endometrium(3)|kidney(7)|large_intestine(15)|lung(24)|ovary(2)|prostate(1)|skin(3)|urinary_tract(1) 66 Kidney(211;0.201) CCAAAACCACGATGTGGGTCA 0.502000 66 12 0 0 0.001368 0 0 CUL9 23113 broad.mit.edu 37 6 43188593 43188593 + Missense_Mutation SNP G C C TCGA-D3-A2JA-06A-11D-A196-08 TCGA-D3-A2JA-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx f961ddcc-fb01-4ad1-974e-ccb2656a328e a6cc66c4-23a1-43c8-9989-be2c10aa4f63 g.chr6:43188593G>C uc003ouk.3 + 32 6607 c.6532G>C c.(6532-6534)Ggg>Cgg p.G2178R CUL9_uc003oul.3_Missense_Mutation_p.G2150R|CUL9_uc010jyk.3_Missense_Mutation_p.G1330R|CUL9_uc003oun.3_5'UTR NM_015089 NP_055904 Q8IWT3 CUL9_HUMAN Homo sapiens cullin 9 (CUL9), mRNA. 2178 ubiquitin-dependent protein catabolic process cullin-RING ubiquitin ligase complex|cytoplasm ATP binding|ubiquitin protein ligase binding|zinc ion binding breast(3)|central_nervous_system(1)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(18)|liver(1)|lung(30)|ovary(5)|prostate(3)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(4) 92 CCTGGGCTGTGGGACCACCTG 0.652000 10 5 0 0 0.001984 0 0 FNDC8 54752 broad.mit.edu 37 17 33454267 33454268 + Missense_Mutation DNP CC TG TG TCGA-D3-A2JA-06A-11D-A196-08 TCGA-D3-A2JA-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx f961ddcc-fb01-4ad1-974e-ccb2656a328e a6cc66c4-23a1-43c8-9989-be2c10aa4f63 g.chr17:33454267_33454268CC>TG uc002hix.3 + 1 498_499 c.416_417CC>TG c.(415-417)ccc>cTG p.P139L NM_017559 NP_060029 Q8TC99 FNDC8_HUMAN Homo sapiens fibronectin type III domain containing 8 (FNDC8), mRNA. 139 breast(1)|kidney(1)|large_intestine(3)|lung(3)|ovary(2)|skin(1) 11 Ovarian(249;0.17) UCEC - Uterine corpus endometrioid carcinoma (308;0.022) GCGCTCGGCCCCTGCCCATGCC 0.569000 64 72 0 0 0.004672 0 0 TRPS1 7227 broad.mit.edu 37 8 116599332 116599332 + Silent SNP G A A TCGA-D3-A2JA-06A-11D-A196-08 TCGA-D3-A2JA-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx f961ddcc-fb01-4ad1-974e-ccb2656a328e a6cc66c4-23a1-43c8-9989-be2c10aa4f63 g.chr8:116599332G>A uc003yny.3 - 4 3174 c.2596C>T c.(2596-2598)Ctg>Ttg p.L866L TRPS1_uc011lhy.2_Silent_p.L857L|TRPS1_uc003ynz.3_Silent_p.L853L|TRPS1_uc010mcy.3_Silent_p.L853L NM_014112 NP_054831 Q9UHF7 TRPS1_HUMAN Homo sapiens trichorhinophalangeal syndrome I (TRPS1), mRNA. 853 NLS-bearing substrate import into nucleus|negative regulation of transcription from RNA polymerase II promoter|regulation of chondrocyte differentiation|skeletal system development|transcription from RNA polymerase II promoter nucleus protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding autonomic_ganglia(1)|breast(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(25)|lung(58)|ovary(3)|pancreas(1)|prostate(1)|skin(6)|urinary_tract(2) 111 all_cancers(13;5.44e-23)|all_epithelial(1;2.14e-27)|Lung NSC(37;2.55e-05)|Ovarian(258;0.0219) Epithelial(1;9.78e-37)|all cancers(1;3.14e-31)|BRCA - Breast invasive adenocarcinoma(1;2.56e-12) GCCCCCTGCAGGAATCCCTTG 0.577000 Langer-Giedion syndrome 31 22 0 0 0.002780 0 0 ZSWIM4 65249 broad.mit.edu 37 19 13915816 13915816 + Missense_Mutation SNP C T T TCGA-D3-A2JA-06A-11D-A196-08 TCGA-D3-A2JA-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx f961ddcc-fb01-4ad1-974e-ccb2656a328e a6cc66c4-23a1-43c8-9989-be2c10aa4f63 g.chr19:13915816C>T uc002mxh.1 + 2 755 c.566C>T c.(565-567)tCc>tTc p.S189F ZSWIM4_uc010xng.1_5'UTR NM_023072 NP_075560 Q9H7M6 ZSWM4_HUMAN Homo sapiens zinc finger, SWIM-type containing 4 (ZSWIM4), mRNA. 189 zinc ion binding central_nervous_system(3)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(11)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(2) 27 OV - Ovarian serous cystadenocarcinoma(19;2.94e-23)|Epithelial(5;4.58e-19) CTGCCCATCTCCGAGACGCTC 0.637000 OREG0025298 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 51 15 0 0 0.004990 0 0 DEFA6 1671 broad.mit.edu 37 8 6782349 6782349 + Silent SNP G A A TCGA-D3-A2JA-06A-11D-A196-08 TCGA-D3-A2JA-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx f961ddcc-fb01-4ad1-974e-ccb2656a328e a6cc66c4-23a1-43c8-9989-be2c10aa4f63 g.chr8:6782349G>A uc003wqt.3 - 1 335 c.294C>T c.(292-294)tgC>tgT p.C98C NM_001926 NP_001917 Q01524 DEF6_HUMAN Homo sapiens defensin, alpha 6, Paneth cell-specific (DEFA6), mRNA. 98 defense response to bacterium|defense response to fungus|killing of cells of other organism extracellular space lung(4) 4 STAD - Stomach adenocarcinoma(24;0.0322) COAD - Colon adenocarcinoma(149;0.0572)|READ - Rectum adenocarcinoma(644;0.121) CTCAGAGGCAGCAGAATCTGT 0.413000 45 8 0 0 0.004482 0 0 TPO 7173 broad.mit.edu 37 2 1480872 1480872 + Silent SNP C T T TCGA-D3-A2JA-06A-11D-A196-08 TCGA-D3-A2JA-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx f961ddcc-fb01-4ad1-974e-ccb2656a328e a6cc66c4-23a1-43c8-9989-be2c10aa4f63 g.chr2:1480872C>T uc002qwr.3 + 7 920 c.834C>T c.(832-834)gcC>gcT p.A278A TPO_uc010ewj.3_Intron|TPO_uc002qww.3_Silent_p.A278A|TPO_uc002qwx.3_Silent_p.A278A|TPO_uc002qwu.3_Silent_p.A278A|TPO_uc010yio.2_Intron|TPO_uc010yip.2_Silent_p.A278A NM_001206744 NP_001193673 P07202 PERT_HUMAN Homo sapiens thyroid peroxidase (TPO), transcript variant 6, mRNA. 278 cellular nitrogen compound metabolic process|hormone biosynthetic process|hydrogen peroxide catabolic process cell surface|cytoplasm|integral to plasma membrane calcium ion binding|heme binding|iodide peroxidase activity breast(1)|central_nervous_system(3)|endometrium(8)|kidney(4)|large_intestine(14)|liver(2)|lung(33)|ovary(8)|pancreas(6)|prostate(4)|skin(7)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(2) 95 all_hematologic(175;0.0487)|Acute lymphoblastic leukemia(172;0.0627) all_cancers(51;0.0338) all cancers(51;0.0356)|OV - Ovarian serous cystadenocarcinoma(76;0.0748)|Epithelial(75;0.12) Carbimazole(DB00389)|Methimazole(DB00763)|Propylthiouracil(DB00550) CGGAGGAGGCCCGGCCGGCCG 0.701000 28 6 0 0 0.001984 0 0 LGALS13 29124 broad.mit.edu 37 19 40095857 40095857 + Missense_Mutation SNP G A A TCGA-D3-A2JA-06A-11D-A196-08 TCGA-D3-A2JA-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx f961ddcc-fb01-4ad1-974e-ccb2656a328e a6cc66c4-23a1-43c8-9989-be2c10aa4f63 g.chr19:40095857G>A uc002omb.3 + 2 172 c.132G>A c.(130-132)atG>atA p.M44I NM_013268 NP_037400 Q9UHV8 PP13_HUMAN Homo sapiens lectin, galactoside-binding, soluble, 13 (LGALS13), mRNA. 44 Galectin. lipid catabolic process|phospholipid metabolic process carboxylesterase activity|lysophospholipase activity|sugar binding lung(5)|ovary(1)|urinary_tract(1) 7 all_cancers(60;1.77e-05)|all_lung(34;5.38e-08)|Lung NSC(34;6.37e-08)|Ovarian(47;0.116) Epithelial(26;3.28e-26)|OV - Ovarian serous cystadenocarcinoma(5;7.31e-25)|all cancers(26;1.15e-23)|LUSC - Lung squamous cell carcinoma(53;0.00281) ACACTGACATGGATGAGGATT 0.517000 24 24 0 0 0.003954 0 0 ZFP106 64397 broad.mit.edu 37 15 42743290 42743290 + Nonsense_Mutation SNP T A A TCGA-D3-A2JA-06A-11D-A196-08 TCGA-D3-A2JA-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx f961ddcc-fb01-4ad1-974e-ccb2656a328e a6cc66c4-23a1-43c8-9989-be2c10aa4f63 g.chr15:42743290T>A uc001zpw.3 - 1 1438 c.1111A>T c.(1111-1113)Aag>Tag p.K371* ZFP106_uc001zpu.3_5'Flank|ZFP106_uc001zpv.3_Intron|ZFP106_uc001zpx.3_Intron|ZFP106_uc010udh.1_Nonsense_Mutation_p.K154*|ZFP106_uc001zpy.1_Nonsense_Mutation_p.K394* NM_022473 NP_071918 Q9H2Y7 ZF106_HUMAN Homo sapiens zinc finger protein 106 homolog (mouse) (ZFP106), mRNA. 371 nucleolus zinc ion binding NS(1)|autonomic_ganglia(1)|breast(3)|central_nervous_system(2)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(17)|lung(24)|ovary(3)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 61 all_cancers(109;1.63e-12)|all_epithelial(112;3.97e-11)|Lung NSC(122;2.04e-07)|all_lung(180;8.31e-07)|Melanoma(134;0.091) GBM - Glioblastoma multiforme(94;8.6e-07) ATTTCTGACTTGTTACCAGTG 0.453000 71 22 0 0 0.002299 0 0 PCDHGC5 56097 broad.mit.edu 37 5 140802161 140802161 + Missense_Mutation SNP C T T TCGA-D3-A2JA-06A-11D-A196-08 TCGA-D3-A2JA-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx f961ddcc-fb01-4ad1-974e-ccb2656a328e a6cc66c4-23a1-43c8-9989-be2c10aa4f63 g.chr5:140802161C>T uc003lkq.2 + 0 1625 c.1367C>T c.(1366-1368)tCc>tTc p.S456F 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_uc003lkl.2_Intron|PCDHGC5_uc003lkn.2_Intron|PCDHGC5_uc003lko.1_Missense_Mutation_p.S456F|PCDHGC5_uc003lkp.2_Missense_Mutation_p.S456F NM_018914 NP_061737 Q9Y5F6 PCDGM_HUMAN Homo sapiens protocadherin gamma subfamily A, 11 (PCDHGA11), transcript variant 1, mRNA. 457 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) TTTCCTCACTCCTCTTACTCT 0.547000 99 28 0 0 0.008361 0 0 TRPM7 54822 broad.mit.edu 37 15 50884498 50884498 + Missense_Mutation SNP G A A TCGA-D3-A2JA-06A-11D-A196-08 TCGA-D3-A2JA-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx f961ddcc-fb01-4ad1-974e-ccb2656a328e a6cc66c4-23a1-43c8-9989-be2c10aa4f63 g.chr15:50884498G>A uc001zyt.4 - 25 4216 c.3934C>T c.(3934-3936)Cct>Tct p.P1312S TRPM7_uc010bew.2_Missense_Mutation_p.P1312S NM_017672 NP_060142 Q96QT4 TRPM7_HUMAN Homo sapiens transient receptor potential cation channel, subfamily M, member 7 (TRPM7), mRNA. 1312 cell death integral to membrane ATP binding|calcium channel activity|metal ion binding|protein serine/threonine kinase activity breast(3)|central_nervous_system(1)|endometrium(2)|kidney(4)|large_intestine(17)|lung(13)|ovary(4)|pancreas(1)|skin(4)|stomach(3) 52 all cancers(107;0.000819)|GBM - Glioblastoma multiforme(94;0.0045) CAATGAAAAGGATTATTACTT 0.343000 44 14 0 0 0.001855 0 0 OR2M1P 388762 broad.mit.edu 37 1 248285825 248285825 + Missense_Mutation SNP G C C TCGA-D3-A2JA-06A-11D-A196-08 TCGA-D3-A2JA-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx f961ddcc-fb01-4ad1-974e-ccb2656a328e a6cc66c4-23a1-43c8-9989-be2c10aa4f63 g.chr1:248285825G>C uc001idy.1 + 0 388 c.388G>C c.(388-390)Gtt>Ctt p.V130L Homo sapiens olfactory receptor, family 2, subfamily M, member 1 pseudogene (OR2M1P), non-coding RNA. ATTTGAAAAGGTTATTTTCAT 0.413000 112 84 0 0 0.003610 0 0 PLXNA1 5361 broad.mit.edu 37 3 126730864 126730864 + Missense_Mutation SNP A C C TCGA-D3-A2JA-06A-11D-A196-08 TCGA-D3-A2JA-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx f961ddcc-fb01-4ad1-974e-ccb2656a328e a6cc66c4-23a1-43c8-9989-be2c10aa4f63 g.chr3:126730864A>C uc003ejg.3 + 8 2176 c.2176A>C c.(2176-2178)Acc>Ccc p.T726P NM_032242 NP_115618 Q9UIW2 PLXA1_HUMAN Homo sapiens plexin A1 (PLXNA1), mRNA. 726 axon guidance integral to membrane|intracellular|plasma membrane semaphorin receptor activity p.T703P(2) breast(3)|central_nervous_system(5)|endometrium(10)|kidney(5)|large_intestine(4)|lung(32)|ovary(2)|pancreas(1)|prostate(2)|skin(3) 67 GBM - Glioblastoma multiforme(114;0.155) AAAACCCATCACCCTGGCCGC 0.652000 63 7 0 0 0.004990 0 0 HTT 3064 broad.mit.edu 37 4 3208296 3208296 + Missense_Mutation SNP C T T TCGA-D3-A2JA-06A-11D-A196-08 TCGA-D3-A2JA-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx f961ddcc-fb01-4ad1-974e-ccb2656a328e a6cc66c4-23a1-43c8-9989-be2c10aa4f63 g.chr4:3208296C>T uc021xkv.1 + 42 5937 c.5792C>T c.(5791-5793)tCc>tTc p.S1931F NM_002111 NP_002102 P42858 HD_HUMAN Homo sapiens huntingtin (HTT), mRNA. 1931 Golgi organization|establishment of mitotic spindle orientation|retrograde vesicle-mediated transport, Golgi to ER|vesicle transport along microtubule Golgi apparatus|autophagic vacuole|axon|cytoplasmic vesicle membrane|cytosol|dendrite|endoplasmic reticulum|late endosome|membrane fraction|nucleus|protein complex beta-tubulin binding|dynactin binding|dynein intermediate chain binding|p53 binding|transcription factor binding breast(1)|cervix(2)|endometrium(14)|kidney(5)|large_intestine(23)|lung(28)|ovary(4)|prostate(2)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(1) 87 all_epithelial(65;0.18) UCEC - Uterine corpus endometrioid carcinoma (64;0.187) ATCAGCCTTTCCCACGAGCCT 0.473000 32 15 0 0 0.003163 0 0 NCAM1 4684 broad.mit.edu 37 11 113078638 113078638 + Missense_Mutation SNP T G G TCGA-D3-A2JA-06A-11D-A196-08 TCGA-D3-A2JA-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx f961ddcc-fb01-4ad1-974e-ccb2656a328e a6cc66c4-23a1-43c8-9989-be2c10aa4f63 g.chr11:113078638T>G uc021qqp.1 + 6 1196 c.824T>G c.(823-825)gTg>gGg p.V275G NCAM1_uc001pno.3_Missense_Mutation_p.V159G|NCAM1_uc001pnp.3_Missense_Mutation_p.V275G|NCAM1_uc021qqo.1_Missense_Mutation_p.V275G|NCAM1_uc001pnq.3_Missense_Mutation_p.V275G|NCAM1_uc001pnr.3_Missense_Mutation_p.V275G NM_001242607 NP_001229536 P13591 NCAM1_HUMAN Homo sapiens neural cell adhesion molecule 1 (NCAM1), transcript variant 5, mRNA. 277 Ig-like C2-type 3. axon guidance|interferon-gamma-mediated signaling pathway Golgi membrane|anchored to membrane|extracellular region|integral to membrane breast(1)|endometrium(3)|kidney(1)|large_intestine(11)|lung(27)|ovary(3)|prostate(2)|upper_aerodigestive_tract(1) 49 all_cancers(61;5.82e-19)|all_epithelial(67;6.87e-12)|Melanoma(852;1.99e-05)|all_hematologic(158;3.66e-05)|Acute lymphoblastic leukemia(157;0.00119)|Breast(348;0.0109)|all_neural(223;0.0299)|Medulloblastoma(222;0.0458)|Renal(330;0.198)|Prostate(24;0.207) BRCA - Breast invasive adenocarcinoma(274;1.78e-05)|Epithelial(105;0.000114)|all cancers(92;0.000467)|OV - Ovarian serous cystadenocarcinoma(223;0.212) ATCAAAAAGGTGGATAAGAAC 0.502000 3 8 0 0 0.003080 0 0 CFH 3075 broad.mit.edu 37 1 196876452 196876452 + Missense_Mutation SNP C T T TCGA-D3-A2JA-06A-11D-A196-08 TCGA-D3-A2JA-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx f961ddcc-fb01-4ad1-974e-ccb2656a328e a6cc66c4-23a1-43c8-9989-be2c10aa4f63 g.chr1:196876452C>T uc001gtp.3 + 4 760 c.623C>T c.(622-624)tCa>tTa p.S208L CFH_uc021pgt.1_Intron|CFH_uc009wyy.3_Missense_Mutation_p.S207L|CFH_uc001gto.3_Intron NM_001201550 NP_001188479 P08603 CFAH_HUMAN Homo sapiens complement factor H-related 4 (CFHR4), transcript variant 1, mRNA. 565 Sushi 4. complement activation, alternative pathway extracellular space NS(3)|breast(4)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(8)|large_intestine(24)|lung(33)|ovary(1)|prostate(5)|skin(9)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(2) 101 TCAGATTCTTCAGAAAACTGT 0.373000 24 7 0 0 0.003080 0 0 HRASLS 57110 broad.mit.edu 37 3 192973511 192973512 + Missense_Mutation DNP CC TT TT TCGA-D3-A2JA-06A-11D-A196-08 TCGA-D3-A2JA-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx f961ddcc-fb01-4ad1-974e-ccb2656a328e a6cc66c4-23a1-43c8-9989-be2c10aa4f63 g.chr3:192973511_192973512CC>TT uc003fta.3 + 1 477_478 c.72_73CC>TT c.(70-75)ttccgt>ttTTgt p.R25C NM_020386 NP_065119 Q9HDD0 HRSL1_HUMAN Homo sapiens HRAS-like suppressor (HRASLS), mRNA. 25 p.R25H(1) breast(1)|large_intestine(2)|lung(4)|prostate(1)|skin(2) 10 all_cancers(143;9.1e-09)|Ovarian(172;0.0386) OV - Ovarian serous cystadenocarcinoma(49;5.56e-18)|LUSC - Lung squamous cell carcinoma(58;6.08e-06)|Lung(62;6.49e-06) GBM - Glioblastoma multiforme(46;0.000159) TCGAAGTGTTCCGTCCTGGCTA 0.490000 149 45 0 0 0.004672 0 0 ADAM18 8749 broad.mit.edu 37 8 39467047 39467047 + Missense_Mutation SNP C T T TCGA-D3-A2JA-06A-11D-A196-08 TCGA-D3-A2JA-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx f961ddcc-fb01-4ad1-974e-ccb2656a328e a6cc66c4-23a1-43c8-9989-be2c10aa4f63 g.chr8:39467047C>T uc003xni.3 + 4 366 c.311C>T c.(310-312)tCa>tTa p.S104L ADAM18_uc003xnh.3_Missense_Mutation_p.S104L|ADAM18_uc010lww.3_Non-coding_Transcript|ADAM18_uc010lwx.3_Missense_Mutation_p.S104L NM_014237 NP_055052 Q9Y3Q7 ADA18_HUMAN Homo sapiens ADAM metallopeptidase domain 18 (ADAM18), transcript variant 1, mRNA. 104 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) TTTCCAAATTCATTTGTGACA 0.318000 22 30 0 0 0.003271 0 0 CBX8 57332 broad.mit.edu 37 17 77768979 77768979 + Missense_Mutation SNP C T T TCGA-D3-A2JA-06A-11D-A196-08 TCGA-D3-A2JA-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx f961ddcc-fb01-4ad1-974e-ccb2656a328e a6cc66c4-23a1-43c8-9989-be2c10aa4f63 g.chr17:77768979C>T uc002jxd.2 - 4 743 c.625G>A c.(625-627)Gac>Aac p.D209N NM_020649 NP_065700 Q9HC52 CBX8_HUMAN Homo sapiens chromobox homolog 8 (CBX8), mRNA. 209 negative regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent PcG protein complex|nuclear chromatin methylated histone residue binding breast(1)|central_nervous_system(1)|large_intestine(4)|lung(4)|ovary(1)|prostate(1)|skin(1)|stomach(1) 14 OV - Ovarian serous cystadenocarcinoma(97;0.0102)|BRCA - Breast invasive adenocarcinoma(99;0.0224) TGTGAGGGGTCCGGGAGCTCC 0.662000 14 11 0 0 0.002450 0 0 RP1 6101 broad.mit.edu 37 8 55540389 55540389 + Missense_Mutation SNP C T T TCGA-D3-A2JA-06A-11D-A196-08 TCGA-D3-A2JA-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx f961ddcc-fb01-4ad1-974e-ccb2656a328e a6cc66c4-23a1-43c8-9989-be2c10aa4f63 g.chr8:55540389C>T uc003xsd.1 + 3 4095 c.3947C>T c.(3946-3948)gCt>gTt p.A1316V RP1_uc011ldy.1_Intron NM_006269 NP_006260 P56715 RP1_HUMAN Homo sapiens retinitis pigmentosa 1 (autosomal dominant) (RP1), mRNA. 1316 axoneme assembly|intracellular signal transduction|photoreceptor cell maintenance|photoreceptor cell outer segment organization|phototransduction, visible light|retinal cone cell development|retinal rod cell development cilium axoneme|cytoplasm|microtubule|microtubule associated complex|photoreceptor connecting cilium|photoreceptor inner segment|photoreceptor outer segment microtubule binding NS(4)|breast(6)|central_nervous_system(2)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(4)|kidney(7)|large_intestine(29)|lung(69)|ovary(6)|pancreas(1)|prostate(9)|skin(17)|upper_aerodigestive_tract(3)|urinary_tract(2) 169 all_lung(136;0.0831)|Lung NSC(129;0.109)|all_epithelial(80;0.123) OV - Ovarian serous cystadenocarcinoma(7;4.4e-07)|Epithelial(17;3.37e-05)|all cancers(17;0.000285) AAGGCTTGTGCTCAAAAGGAG 0.413000 117 27 0 0 0.007291 0 0 ARID1A 8289 broad.mit.edu 37 1 27101084 27101084 + Missense_Mutation SNP C T T TCGA-D3-A2JA-06A-11D-A196-08 TCGA-D3-A2JA-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx f961ddcc-fb01-4ad1-974e-ccb2656a328e a6cc66c4-23a1-43c8-9989-be2c10aa4f63 g.chr1:27101084C>T uc001bmv.1 + 17 4739 c.4366C>T c.(4366-4368)Cca>Tca p.P1456S ARID1A_uc001bmt.1_Missense_Mutation_p.P1455S|ARID1A_uc001bmu.1_Intron|ARID1A_uc001bmw.1_Missense_Mutation_p.P1073S|ARID1A_uc001bmx.1_Missense_Mutation_p.P302S|ARID1A_uc009vsm.1_Intron|ARID1A_uc009vsn.1_5'UTR NM_006015 NP_006006 O14497 ARI1A_HUMAN Homo sapiens AT rich interactive domain 1A (SWI-like) (ARID1A), transcript variant 1, mRNA. 1456 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 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) GAACCAATTTCCATTCCAGTT 0.582000 """Mis, N, F, S, D""" """clear cell ovarian carcinoma, RCC""" 106 20 0 0 0.001523 0 0 HGD 3081 broad.mit.edu 37 3 120394654 120394654 + Silent SNP G A A TCGA-D3-A2JA-06A-11D-A196-08 TCGA-D3-A2JA-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx f961ddcc-fb01-4ad1-974e-ccb2656a328e a6cc66c4-23a1-43c8-9989-be2c10aa4f63 g.chr3:120394654G>A uc003edw.3 - 1 532 c.72C>T c.(70-72)tcC>tcT p.S24S NM_000187 NP_000178 Q93099 HGD_HUMAN Homo sapiens homogentisate 1,2-dioxygenase (HGD), mRNA. 24 L-phenylalanine catabolic process|tyrosine catabolic process cytosol homogentisate 1,2-dioxygenase activity|metal ion binding p.G23D(1) cervix(1)|endometrium(4)|kidney(2)|large_intestine(3)|lung(11)|ovary(1)|prostate(1)|skin(2) 25 GBM - Glioblastoma multiforme(114;0.158) CTTCTGGCAGGGAACCTGGGC 0.473000 70 55 0 0 0.003610 0 0 IGSF1 3547 broad.mit.edu 37 X 130411868 130411868 + Nonsense_Mutation SNP C T T TCGA-D3-A2JA-06A-11D-A196-08 TCGA-D3-A2JA-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx f961ddcc-fb01-4ad1-974e-ccb2656a328e a6cc66c4-23a1-43c8-9989-be2c10aa4f63 g.chrX:130411868C>T uc004ewe.4 - 12 2580 c.2297G>A c.(2296-2298)tGg>tAg p.W766* IGSF1_uc004ewd.3_Nonsense_Mutation_p.W761*|IGSF1_uc022cdv.1_Nonsense_Mutation_p.W752*|IGSF1_uc004ewf.2_Nonsense_Mutation_p.W741* NM_001170961 NP_001164432 Q8N6C5 IGSF1_HUMAN Homo sapiens immunoglobulin superfamily, member 1 (IGSF1), transcript variant 3, mRNA. 761 regulation of transcription, DNA-dependent extracellular region|integral to membrane inhibin beta-A binding|inhibin beta-B binding breast(2)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(15)|liver(1)|lung(37)|ovary(4)|skin(3)|upper_aerodigestive_tract(2) 78 GGGCTCAGACCACTTGAAGGG 0.532000 11 18 0 0 0.007413 0 0 UPK3A 7380 broad.mit.edu 37 22 45691447 45691447 + Missense_Mutation SNP G A A TCGA-D3-A2JA-06A-11D-A196-08 TCGA-D3-A2JA-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx f961ddcc-fb01-4ad1-974e-ccb2656a328e a6cc66c4-23a1-43c8-9989-be2c10aa4f63 g.chr22:45691447G>A uc003bfy.3 + 5 738 c.711G>A c.(709-711)atG>atA p.M237I UPK3A_uc010gzy.3_Missense_Mutation_p.M116I NM_006953 NP_008884 O75631 UPK3A_HUMAN Homo sapiens uroplakin 3A (UPK3A), transcript variant 1, mRNA. 237 epithelial cell differentiation endoplasmic reticulum membrane|integral to membrane kidney(1)|large_intestine(1)|lung(2)|skin(1) 5 Ovarian(80;0.00965)|all_neural(38;0.0416) UCEC - Uterine corpus endometrioid carcinoma (28;0.0178) ACAGGGACATGGGGAGTTCTG 0.552000 161 65 0 0 0.003610 0 0 ELAC2 60528 broad.mit.edu 37 17 12903502 12903502 + Missense_Mutation SNP C T T TCGA-D3-A2JA-06A-11D-A196-08 TCGA-D3-A2JA-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx f961ddcc-fb01-4ad1-974e-ccb2656a328e a6cc66c4-23a1-43c8-9989-be2c10aa4f63 g.chr17:12903502C>T uc002gnz.4 - 14 1511 c.1394G>A c.(1393-1395)aGg>aAg p.R465K ELAC2_uc002gnu.4_5'UTR|ELAC2_uc002gnv.4_Missense_Mutation_p.R93K|ELAC2_uc002gnx.4_Missense_Mutation_p.R225K|ELAC2_uc010vvo.2_Missense_Mutation_p.R263K|ELAC2_uc010vvp.2_Missense_Mutation_p.R446K|ELAC2_uc010vvq.2_Missense_Mutation_p.R464K|ELAC2_uc010vvr.2_Missense_Mutation_p.R425K NM_018127 NP_060597 Q9BQ52 RNZ2_HUMAN Homo sapiens elaC homolog 2 (E. coli) (ELAC2), transcript variant 1, mRNA. 465 tRNA processing nucleus endonuclease activity|metal ion binding|protein binding breast(1)|central_nervous_system(1)|cervix(2)|endometrium(4)|kidney(2)|large_intestine(4)|lung(8)|skin(1) 23 CTGCGCACTCCTCCTGTACTC 0.567000 19 23 0 0 0.002299 0 0 EPO 2056 broad.mit.edu 37 7 100320703 100320703 + Missense_Mutation SNP C T T TCGA-D3-A2JA-06A-11D-A196-08 TCGA-D3-A2JA-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx f961ddcc-fb01-4ad1-974e-ccb2656a328e a6cc66c4-23a1-43c8-9989-be2c10aa4f63 g.chr7:100320703C>T uc003uwi.3 + 4 710 c.529C>T c.(529-531)Cgg>Tgg p.R177W EPO_uc011kkc.1_Missense_Mutation_p.R176W NM_000799 NP_000790 P01588 EPO_HUMAN Homo sapiens erythropoietin (EPO), mRNA. 177 blood circulation|cellular hyperosmotic response|erythrocyte maturation|negative regulation of apoptosis|negative regulation of ion transmembrane transporter activity|negative regulation of sodium ion transport|positive regulation of DNA replication|positive regulation of Ras protein signal transduction|positive regulation of cell proliferation|positive regulation of transcription, DNA-dependent|positive regulation of tyrosine phosphorylation of Stat5 protein|signal transduction extracellular space erythropoietin receptor binding|eukaryotic cell surface binding|hormone activity p.R177W(2) central_nervous_system(2)|endometrium(2)|lung(7)|prostate(1) 12 Lung NSC(181;0.041)|all_lung(186;0.0581) Darbepoetin alfa(DB00012)|Epoetin alfa(DB00016) CAATTTCCTCCGGGGAAAGCT 0.572000 105 56 0 0 0.003610 0 0 KCTD14 65987 broad.mit.edu 37 11 77728067 77728067 + Missense_Mutation SNP C T T TCGA-D3-A2JA-06A-11D-A196-08 TCGA-D3-A2JA-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx f961ddcc-fb01-4ad1-974e-ccb2656a328e a6cc66c4-23a1-43c8-9989-be2c10aa4f63 g.chr11:77728067C>T uc001oyw.4 - 1 365 c.340G>A c.(340-342)Gaa>Aaa p.E114K NDUFC2-KCTD14_uc021qnr.1_3'UTR|NDUFC2-KCTD14_uc021qns.1_3'UTR|NDUFC2-KCTD14_uc021qnt.1_3'UTR NM_023930 NP_076419 Q9BQ13 KCD14_HUMAN Homo sapiens potassium channel tetramerisation domain containing 14 (KCTD14), mRNA. 114 BTB. voltage-gated potassium channel complex voltage-gated potassium channel activity endometrium(2)|kidney(1)|large_intestine(1)|lung(8)|ovary(2)|upper_aerodigestive_tract(1) 15 all_cancers(14;4.53e-19)|all_epithelial(13;1.73e-21)|Breast(9;2.71e-16)|Ovarian(111;0.152) OV - Ovarian serous cystadenocarcinoma(8;1e-24) GGCTTGATTTCGTAGAACTGA 0.562000 30 13 0 0 0.003163 0 0 ARRB2 409 broad.mit.edu 37 17 4624283 4624283 + Silent SNP G A A TCGA-D3-A2JA-06A-11D-A196-08 TCGA-D3-A2JA-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx f961ddcc-fb01-4ad1-974e-ccb2656a328e a6cc66c4-23a1-43c8-9989-be2c10aa4f63 g.chr17:4624283G>A uc010vsg.2 + 14 1470 c.1242G>A c.(1240-1242)cgG>cgA p.R414R ARRB2_uc002fyj.3_Silent_p.R393R|ARRB2_uc002fyk.3_Silent_p.R378R|ARRB2_uc002fyl.3_Silent_p.R405R|ARRB2_uc002fym.3_Silent_p.R390R|ARRB2_uc002fyn.3_Silent_p.R201R NM_004313 NP_004304 P32121 ARRB2_HUMAN Homo sapiens arrestin, beta 2 (ARRB2), transcript variant 1, mRNA. 393 G-protein coupled receptor internalization|cell chemotaxis|desensitization of G-protein coupled receptor protein signaling pathway by arrestin|negative regulation of NF-kappaB transcription factor activity|negative regulation of natural killer cell mediated cytotoxicity|negative regulation of protein ubiquitination|platelet activation|positive regulation of ERK1 and ERK2 cascade|proteasomal ubiquitin-dependent protein catabolic process|protein transport|protein ubiquitination|transcription from RNA polymerase II promoter|transforming growth factor beta receptor signaling pathway coated pit|cytoplasmic membrane-bounded vesicle|cytosol|nucleus|plasma membrane angiotensin receptor binding|ubiquitin protein ligase binding large_intestine(1)|liver(2)|lung(3)|prostate(1) 7 ACTTTGCCCGGCTTCGGCTGA 0.562000 64 58 0 0 0.003610 0 0 SHROOM3 57619 broad.mit.edu 37 4 77661150 77661150 + Silent SNP T G G rs143936832 byFrequency TCGA-D3-A2JA-06A-11D-A196-08 TCGA-D3-A2JA-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx f961ddcc-fb01-4ad1-974e-ccb2656a328e a6cc66c4-23a1-43c8-9989-be2c10aa4f63 g.chr4:77661150T>G uc011cbx.2 + 4 2777 c.1824T>G c.(1822-1824)gcT>gcG p.A608A SHROOM3_uc011cbz.1_Silent_p.A432A|SHROOM3_uc003hkf.1_Silent_p.A483A|SHROOM3_uc003hkg.3_Silent_p.A386A NM_020859 NP_065910 Q8TF72 SHRM3_HUMAN Homo sapiens shroom family member 3 (SHROOM3), mRNA. 608 apical protein localization|cell morphogenesis|cellular pigment accumulation|pattern specification process|regulation of cell shape adherens junction|apical junction complex|apical plasma membrane|cytoplasm|microtubule actin binding NS(3)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(10)|kidney(2)|large_intestine(6)|lung(29)|ovary(1)|skin(5)|upper_aerodigestive_tract(1) 60 Lung(101;0.0903) GCCCTCAGGCTCAGGCCTGGC 0.562000 121 32 0 0 0.001786 0 0 CFI 3426 broad.mit.edu 37 4 110682768 110682768 + Missense_Mutation SNP C T T TCGA-D3-A2JA-06A-11D-A196-08 TCGA-D3-A2JA-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx f961ddcc-fb01-4ad1-974e-ccb2656a328e a6cc66c4-23a1-43c8-9989-be2c10aa4f63 g.chr4:110682768C>T uc011cft.2 - 3 771 c.563G>A c.(562-564)gGa>gAa p.G188E CFI_uc003hzq.3_5'UTR|CFI_uc003hzr.4_Missense_Mutation_p.G188E NM_000204 NP_000195 P05156 CFAI_HUMAN Homo sapiens complement factor I (CFI), mRNA. 188 SRCR. 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) GGTCTCTAATCCTCGGCAATG 0.393000 47 21 0 0 0.008871 0 0 SSX8 280659 broad.mit.edu 37 X 52659398 52659398 + RNA SNP G A A TCGA-D3-A2JA-06A-11D-A196-08 TCGA-D3-A2JA-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx f961ddcc-fb01-4ad1-974e-ccb2656a328e a6cc66c4-23a1-43c8-9989-be2c10aa4f63 g.chrX:52659398G>A uc011moa.1 + 6 c.895G>A SSX8_uc011mob.1_Non-coding_Transcript Homo sapiens synovial sarcoma, X breakpoint 8 (SSX8), non-coding RNA. AGAACGATGGGAAACAGCTGC 0.463000 51 77 0 0 0.003610 0 0 FAM131B 9715 broad.mit.edu 37 7 143054391 143054391 + Missense_Mutation SNP C T T TCGA-D3-A2JA-06A-11D-A196-08 TCGA-D3-A2JA-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx f961ddcc-fb01-4ad1-974e-ccb2656a328e a6cc66c4-23a1-43c8-9989-be2c10aa4f63 g.chr7:143054391C>T uc010lpa.3 - 5 736 c.592G>A c.(592-594)Gaa>Aaa p.E198K FAM131B_uc010loz.3_Missense_Mutation_p.E138K|FAM131B_uc003wct.3_Missense_Mutation_p.E170K|FAM131B_uc003wcu.4_Missense_Mutation_p.E170K NM_001031690 NP_055505 Q86XD5 F131B_HUMAN Homo sapiens family with sequence similarity 131, member B (FAM131B), transcript variant a, mRNA. 170 breast(1)|endometrium(4)|large_intestine(3)|lung(13)|ovary(1)|skin(2) 24 Melanoma(164;0.205) TCCATCAGTTCCTGGTAGTTG 0.542000 120 61 0 0 0.003610 0 0 DSC1 1823 broad.mit.edu 37 18 28725700 28725700 + Silent SNP T C C TCGA-D3-A2JA-06A-11D-A196-08 TCGA-D3-A2JA-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx f961ddcc-fb01-4ad1-974e-ccb2656a328e a6cc66c4-23a1-43c8-9989-be2c10aa4f63 g.chr18:28725700T>C uc002kwn.3 - 6 1075 c.813A>G c.(811-813)gaA>gaG p.E271E DSC1_uc002kwm.3_Silent_p.E271E NM_024421 NP_077739 Q08554 DSC1_HUMAN Homo sapiens desmocollin 1 (DSC1), transcript variant Dsc1a, mRNA. 271 Cadherin 2. homophilic cell adhesion desmosome|gap junction|integral to membrane|membrane fraction calcium ion binding breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(8)|lung(20)|ovary(3)|skin(10)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1) 53 OV - Ovarian serous cystadenocarcinoma(10;0.00778) GAGTGTCAGGTTCGTCAAGGT 0.378000 55 20 0 0 0.002780 0 0 HSD17B2 3294 broad.mit.edu 37 16 82101883 82101883 + Missense_Mutation SNP G A A TCGA-D3-A2JA-06A-11D-A196-08 TCGA-D3-A2JA-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx f961ddcc-fb01-4ad1-974e-ccb2656a328e a6cc66c4-23a1-43c8-9989-be2c10aa4f63 g.chr16:82101883G>A uc002fgv.3 + 1 546 c.374G>A c.(373-375)cGa>cAa p.R125Q NM_002153 NP_002144 P37059 DHB2_HUMAN Homo sapiens hydroxysteroid (17-beta) dehydrogenase 2 (HSD17B2), mRNA. 125 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) GAGGAATTGCGAAGAACCTGC 0.527000 38 10 0 0 0.008291 0 0 PPP1R15A 23645 broad.mit.edu 37 19 49376550 49376550 + Silent SNP C T T TCGA-D3-A2JA-06A-11D-A196-08 TCGA-D3-A2JA-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx f961ddcc-fb01-4ad1-974e-ccb2656a328e a6cc66c4-23a1-43c8-9989-be2c10aa4f63 g.chr19:49376550C>T uc002pky.4 + 1 329 c.60C>T c.(58-60)ttC>ttT p.F20F NM_014330 NP_055145 O75807 PR15A_HUMAN Homo sapiens protein phosphatase 1, regulatory subunit 15A (PPP1R15A), mRNA. 20 Required for localization in the endoplasmic reticulum. apoptosis|cell cycle arrest|regulation of translation|response to DNA damage stimulus endoplasmic reticulum protein binding breast(1)|endometrium(4)|kidney(1)|large_intestine(6)|lung(8)|skin(2)|urinary_tract(1) 23 all_epithelial(76;5.29e-07)|all_lung(116;1.7e-06)|Lung NSC(112;3.55e-06)|all_neural(266;0.0189)|Ovarian(192;0.0261) OV - Ovarian serous cystadenocarcinoma(262;0.000244)|all cancers(93;0.000694)|GBM - Glioblastoma multiforme(486;0.0222)|Epithelial(262;0.033) ACCCTTTCTTCCTCCTGTCCC 0.612000 29 20 0 0 0.002299 0 0 HMGB4 127540 broad.mit.edu 37 1 34330204 34330205 + Missense_Mutation DNP GA AC AC TCGA-D3-A2JA-06A-11D-A196-08 TCGA-D3-A2JA-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx f961ddcc-fb01-4ad1-974e-ccb2656a328e a6cc66c4-23a1-43c8-9989-be2c10aa4f63 g.chr1:34330204_34330205GA>AC uc021oky.1 + 0 412_413 c.412_413GA>AC c.(412-414)gag>ACg p.E138T CSMD2_uc001bxm.1_Intron|CSMD2_uc001bxn.1_Intron|HMGB4_uc001bxp.3_Missense_Mutation_p.E138T|HMGB4_uc001bxq.3_Missense_Mutation_p.E64T NM_145205 NP_660206 B2R4X7 B2R4X7_HUMAN Homo sapiens high mobility group box 4 (HMGB4), transcript variant 1, mRNA. 138 nucleus DNA binding NS(1)|breast(1)|large_intestine(1)|lung(7)|upper_aerodigestive_tract(1)|urinary_tract(1) 12 Myeloproliferative disorder(586;0.0255)|all_neural(195;0.211) GACAGACCTGGAGAAGCACCCT 0.525000 31 41 0 0 0.004672 0 0 GPR133 283383 broad.mit.edu 37 12 131498747 131498747 + Silent SNP C T T rs144882598 byFrequency TCGA-D3-A2JA-06A-11D-A196-08 TCGA-D3-A2JA-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx f961ddcc-fb01-4ad1-974e-ccb2656a328e a6cc66c4-23a1-43c8-9989-be2c10aa4f63 g.chr12:131498747C>T uc010tbm.2 + 13 1990 c.1431C>T c.(1429-1431)atC>atT p.I477I GPR133_uc001uit.4_Silent_p.I445I NM_198827 NP_942122 Q6QNK2 GP133_HUMAN Homo sapiens G protein-coupled receptor 133 (GPR133), mRNA. 445 neuropeptide signaling pathway integral to membrane|plasma membrane G-protein coupled receptor activity p.I445I(1) NS(2)|breast(2)|endometrium(6)|kidney(1)|large_intestine(12)|lung(20)|ovary(3)|pancreas(6)|prostate(6)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(4) 67 all_neural(191;0.0982)|Medulloblastoma(191;0.163) OV - Ovarian serous cystadenocarcinoma(86;1.68e-06)|all cancers(50;2.71e-06)|Epithelial(86;6.75e-06) TCCCAAGGATCGCGGAGGCCA 0.577000 39 9 0 0 0.008291 0 0 RNASEH2A 10535 broad.mit.edu 37 19 12923992 12923992 + Silent SNP C T T TCGA-D3-A2JA-06A-11D-A196-08 TCGA-D3-A2JA-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx f961ddcc-fb01-4ad1-974e-ccb2656a328e a6cc66c4-23a1-43c8-9989-be2c10aa4f63 g.chr19:12923992C>T uc002mvg.1 + 6 793 c.733C>T c.(733-735)Ctg>Ttg p.L245L NM_006397 NP_006388 O75792 RNH2A_HUMAN Homo sapiens ribonuclease H2, subunit A (RNASEH2A), mRNA. 245 DNA replication|RNA catabolic process nucleus|ribonuclease H2 complex RNA binding|metal ion binding|ribonuclease H activity breast(3)|central_nervous_system(1)|endometrium(2)|large_intestine(3)|lung(3)|skin(1)|urinary_tract(1) 14 CCAGACCATCCTGGAGAAAGA 0.592000 17 12 0 0 0.002450 0 0 BC063132 0 broad.mit.edu 37 GL000241.1 24693 24693 + RNA SNP A C C TCGA-D3-A2JA-06A-11D-A196-08 TCGA-D3-A2JA-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx f961ddcc-fb01-4ad1-974e-ccb2656a328e a6cc66c4-23a1-43c8-9989-be2c10aa4f63 g.chrGL000241.1:24693A>C uc011mgv.2 - 4 c.520T>G Homo sapiens cDNA clone IMAGE:4673444, containing frame-shift errors. TAGGGCCCTCATCAACTATTG 0.308000 16 9 0 0 0.006214 0 0 DTNBP1 84062 broad.mit.edu 37 6 15533539 15533539 + Missense_Mutation SNP T A A TCGA-D3-A2JA-06A-11D-A196-08 TCGA-D3-A2JA-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx f961ddcc-fb01-4ad1-974e-ccb2656a328e a6cc66c4-23a1-43c8-9989-be2c10aa4f63 g.chr6:15533539T>A uc003nbm.3 - 7 788 c.599A>T c.(598-600)gAg>gTg p.E200V DTNBP1_uc003nbl.3_Missense_Mutation_p.E119V|DTNBP1_uc010jph.3_Missense_Mutation_p.E187V|DTNBP1_uc003nbp.3_Missense_Mutation_p.E200V NM_032122 NP_115498 Q96EV8 DTBP1_HUMAN Homo sapiens dystrobrevin binding protein 1 (DTNBP1), transcript variant 1, mRNA. 200 Dysbindin. actin cytoskeleton reorganization|cellular membrane organization|neuron projection morphogenesis|post-Golgi vesicle-mediated transport|regulation of dopamine receptor signaling pathway BLOC-1 complex|axon part|cell junction|dendritic spine|endoplasmic reticulum membrane|endosome membrane|growth cone|melanosome membrane|nucleus|postsynaptic density|postsynaptic membrane|sarcolemma|synaptic vesicle membrane|synaptosome identical protein binding cervix(1)|endometrium(1)|kidney(2)|large_intestine(2)|lung(5)|ovary(1)|skin(2) 14 Breast(50;0.0289)|Ovarian(93;0.103) all_hematologic(90;0.0895) Epithelial(50;0.211) GAAGGCTTCCTCAAAAAACTT 0.577000 Hermansky-Pudlak syndrome 56 65 0 0 0.003610 0 0 AKAP4 8852 broad.mit.edu 37 X 49957642 49957642 + Silent SNP G A A TCGA-D3-A2JA-06A-11D-A196-08 TCGA-D3-A2JA-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx f961ddcc-fb01-4ad1-974e-ccb2656a328e a6cc66c4-23a1-43c8-9989-be2c10aa4f63 g.chrX:49957642G>A uc004dow.1 - 4 1846 c.1722C>T c.(1720-1722)acC>acT p.T574T AKAP4_uc004dou.1_Silent_p.T565T|AKAP4_uc004dov.1_Silent_p.T191T|AKAP4_uc010njp.1_Silent_p.T396T NM_003886 NP_647450 Q5JQC9 AKAP4_HUMAN Homo sapiens A kinase (PRKA) anchor protein 4 (AKAP4), transcript variant 1, mRNA. 574 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) TATAGCCCATGGTGGAACCAG 0.483000 17 23 0 0 0.002299 0 0 CEACAM5 1048 broad.mit.edu 37 19 42224866 42224866 + Missense_Mutation SNP C T T TCGA-D3-A2JA-06A-11D-A196-08 TCGA-D3-A2JA-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx f961ddcc-fb01-4ad1-974e-ccb2656a328e a6cc66c4-23a1-43c8-9989-be2c10aa4f63 g.chr19:42224866C>T uc002orl.3 + 7 1917 c.1796C>T c.(1795-1797)tCc>tTc p.S599F CEACAM5_uc002orj.1_Missense_Mutation_p.S598F NM_004363 NP_004354 P06731 CEAM5_HUMAN Homo sapiens carcinoembryonic antigen-related cell adhesion molecule 5 (CEACAM5), mRNA. 599 Ig-like 7. anchored to membrane|basolateral plasma membrane|integral to plasma membrane breast(1)|endometrium(3)|kidney(5)|large_intestine(4)|lung(10)|ovary(2)|skin(7)|stomach(1)|urinary_tract(1) 34 OV - Ovarian serous cystadenocarcinoma(3;0.00278)|all cancers(3;0.00625)|Epithelial(262;0.0379)|GBM - Glioblastoma multiforme(1328;0.142) CCCATCATTTCCCCCCCAGAC 0.547000 110 78 0 0 0.003610 0 0 PKLR 5313 broad.mit.edu 37 1 155264147 155264147 + Missense_Mutation SNP C T T TCGA-D3-A2JA-06A-11D-A196-08 TCGA-D3-A2JA-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx f961ddcc-fb01-4ad1-974e-ccb2656a328e a6cc66c4-23a1-43c8-9989-be2c10aa4f63 g.chr1:155264147C>T uc001fkb.4 - 6 1034 c.995G>A c.(994-996)gGc>gAc p.G332D PKLR_uc001fka.4_Missense_Mutation_p.G301D NM_000298 NP_000289 P30613 KPYR_HUMAN Homo sapiens pyruvate kinase, liver and RBC (PKLR), nuclear gene encoding mitochondrial protein, transcript variant 1, mRNA. 332 G -> S (in PKRD; loss of catalytical activity). endocrine pancreas development|energy reserve metabolic process|glycolysis|positive regulation of cellular metabolic process cytosol ATP binding|magnesium ion binding|potassium ion binding|pyruvate kinase activity p.G332V(2) NS(1)|autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(4)|lung(16)|ovary(1)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1) 35 all_lung(78;6.99e-23)|Hepatocellular(266;0.0877)|all_hematologic(923;0.145) Epithelial(20;3.18e-10)|all cancers(21;7.9e-10)|BRCA - Breast invasive adenocarcinoma(34;0.00116)|LUSC - Lung squamous cell carcinoma(543;0.127) Pyruvic acid(DB00119) CACCATGATGCCGTCGCTCAC 0.572000 39 7 0 0 0.001984 0 0 LPHN3 23284 broad.mit.edu 37 4 62863907 62863907 + Missense_Mutation SNP C T T TCGA-D3-A2JA-06A-11D-A196-08 TCGA-D3-A2JA-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx f961ddcc-fb01-4ad1-974e-ccb2656a328e a6cc66c4-23a1-43c8-9989-be2c10aa4f63 g.chr4:62863907C>T uc010ihh.3 + 17 3288 c.3115C>T c.(3115-3117)Ctt>Ttt p.L1039F LPHN3_uc003hcq.4_Missense_Mutation_p.L1039F|LPHN3_uc003hct.3_Missense_Mutation_p.L432F NM_015236 NP_056051 Q9HAR2 LPHN3_HUMAN Homo sapiens latrophilin 3 (LPHN3), mRNA. 1026 neuropeptide signaling pathway integral to membrane|plasma membrane G-protein coupled receptor activity|sugar binding breast(5)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(5)|kidney(4)|large_intestine(21)|lung(73)|ovary(1)|pancreas(1)|prostate(6)|upper_aerodigestive_tract(1) 125 TGTAATCTTCCTTGGGATTGC 0.308000 36 9 0 0 0.006214 0 0 MDGA2 161357 broad.mit.edu 37 14 47351265 47351265 + Missense_Mutation SNP G A A TCGA-D3-A2JA-06A-11D-A196-08 TCGA-D3-A2JA-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx f961ddcc-fb01-4ad1-974e-ccb2656a328e a6cc66c4-23a1-43c8-9989-be2c10aa4f63 g.chr14:47351265G>A uc001wwj.4 - 10 2556 c.2398C>T c.(2398-2400)Cgt>Tgt p.R800C MDGA2_uc001wwh.4_5'UTR|MDGA2_uc001wwi.4_Missense_Mutation_p.R502C|MDGA2_uc010ani.3_Missense_Mutation_p.R291C NM_001113498 NP_878250 Q7Z553 MDGA2_HUMAN Homo sapiens MAM domain containing glycosylphosphatidylinositol anchor 2 (MDGA2), transcript variant 1, mRNA. 731 MAM. spinal cord motor neuron differentiation anchored to membrane|plasma membrane p.R502C(2) breast(3)|endometrium(4)|kidney(2)|large_intestine(14)|lung(41)|ovary(4)|pancreas(1)|prostate(1)|stomach(1)|upper_aerodigestive_tract(5) 76 TTGATCACACGAATTGTTGAA 0.299000 8 4 0 0 0.000248 0 0 STIL 6491 broad.mit.edu 37 1 47746374 47746374 + Missense_Mutation SNP C T T TCGA-D3-A2JA-06A-11D-A196-08 TCGA-D3-A2JA-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx f961ddcc-fb01-4ad1-974e-ccb2656a328e a6cc66c4-23a1-43c8-9989-be2c10aa4f63 g.chr1:47746374C>T uc001crd.1 - 11 1911 c.1756G>A c.(1756-1758)Gaa>Aaa p.E586K TAL1_uc001crb.1_Intron|STIL_uc010omn.1_Missense_Mutation_p.E539K|STIL_uc010omo.1_Missense_Mutation_p.E586K|STIL_uc001crc.1_Missense_Mutation_p.E586K|STIL_uc001cre.1_Missense_Mutation_p.E586K|STIL_uc001crf.1_Missense_Mutation_p.E199K|STIL_uc001crg.1_Missense_Mutation_p.E539K NM_001048166 NP_001041631 Q15468 STIL_HUMAN Homo sapiens SCL/TAL1 interrupting locus (STIL), transcript variant 1, mRNA. 586 PIN1-binding (By similarity). cell proliferation|multicellular organismal development centrosome|cytosol central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(9)|lung(14)|pancreas(1)|skin(1)|upper_aerodigestive_tract(3) 36 Acute lymphoblastic leukemia(5;0.00116)|all_hematologic(5;0.00444) ATCTGAAGTTCCATTGGTCTT 0.438000 71 41 0 0 0.008740 0 0 abParts 0 broad.mit.edu 37 14 107170333 107170333 + RNA SNP G T T TCGA-D3-A2JA-06A-11D-A196-08 TCGA-D3-A2JA-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx f961ddcc-fb01-4ad1-974e-ccb2656a328e a6cc66c4-23a1-43c8-9989-be2c10aa4f63 g.chr14:107170333G>T uc021ser.1 - 42 c.2633C>A Parts of antibodies, mostly variable regions. TGTAGCTGCTGCCACCACAAA 0.522000 43 5 2.7689e-08 3.1596e-08 0.001984 1 0 CYP4F12 66002 broad.mit.edu 37 19 15791260 15791260 + Silent SNP G A A TCGA-D3-A2JA-06A-11D-A196-08 TCGA-D3-A2JA-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx f961ddcc-fb01-4ad1-974e-ccb2656a328e a6cc66c4-23a1-43c8-9989-be2c10aa4f63 g.chr19:15791260G>A uc002nbl.3 + 4 575 c.456G>A c.(454-456)acG>acA p.T152T CYP4F12_uc010xoo.2_Silent_p.T152T|CYP4F12_uc010xop.2_3'UTR NM_023944 NP_076433 Homo sapiens cytochrome P450, family 4, subfamily F, polypeptide 12 (CYP4F12), mRNA. p.T152M(2) 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) GGATGCTGACGCCCGCCTTCC 0.542000 33 20 0 0 0.007413 0 0 KDR 3791 broad.mit.edu 37 4 55961114 55961114 + Silent SNP C T T TCGA-D3-A2JA-06A-11D-A196-08 TCGA-D3-A2JA-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx f961ddcc-fb01-4ad1-974e-ccb2656a328e a6cc66c4-23a1-43c8-9989-be2c10aa4f63 g.chr4:55961114C>T uc003has.3 - 20 3128 c.2826G>A c.(2824-2826)ggG>ggA p.G942G KDR_uc003hat.1_Silent_p.G942G NM_002253 NP_002244 P35968 VGFR2_HUMAN Homo sapiens kinase insert domain receptor (a type III receptor tyrosine kinase) (KDR), mRNA. 942 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) GGAATCGTGCCCCTTTGGTCT 0.433000 Mis """NSCLC, angiosarcoma""" TSP Lung(20;0.16) 53 10 0 0 0.006214 0 0 ZFPM2 23414 broad.mit.edu 37 8 106813401 106813401 + Missense_Mutation SNP G A A TCGA-D3-A2JA-06A-11D-A196-08 TCGA-D3-A2JA-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx f961ddcc-fb01-4ad1-974e-ccb2656a328e a6cc66c4-23a1-43c8-9989-be2c10aa4f63 g.chr8:106813401G>A uc003ymd.3 + 7 1114 c.1091G>A c.(1090-1092)cGa>cAa p.R364Q ZFPM2_uc011lhs.2_Missense_Mutation_p.R95Q NM_012082 NP_036214 Q8WW38 FOG2_HUMAN Homo sapiens zinc finger protein, multitype 2 (ZFPM2), mRNA. 364 blood coagulation|negative regulation of fat cell differentiation|outflow tract septum morphogenesis|right ventricular cardiac muscle tissue morphogenesis|ventricular septum morphogenesis nucleoplasm DNA binding|RNA polymerase II transcription coactivator activity|transcription corepressor activity|transcription factor binding|zinc ion binding NS(4)|breast(6)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(11)|liver(2)|lung(48)|ovary(4)|prostate(5)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1) 99 OV - Ovarian serous cystadenocarcinoma(57;8.28e-08) GCTGCCTTCCGATGTAATCAC 0.507000 115 118 0 0 0.003610 0 0 XPO4 64328 broad.mit.edu 37 13 21371181 21371181 + Nonsense_Mutation SNP G A A TCGA-D3-A2JA-06A-11D-A196-08 TCGA-D3-A2JA-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx f961ddcc-fb01-4ad1-974e-ccb2656a328e a6cc66c4-23a1-43c8-9989-be2c10aa4f63 g.chr13:21371181G>A uc001unq.4 - 16 2374 c.2338C>T c.(2338-2340)Cag>Tag p.Q780* NM_022459 NP_071904 Q9C0E2 XPO4_HUMAN Homo sapiens exportin 4 (XPO4), mRNA. 780 protein transport cytoplasm|nucleus protein binding breast(1)|endometrium(10)|kidney(4)|large_intestine(7)|lung(14)|ovary(1)|prostate(3)|upper_aerodigestive_tract(1) 41 all_cancers(29;5.05e-24)|all_epithelial(30;5.56e-20)|all_lung(29;2.38e-16)|Lung SC(185;0.0262)|Hepatocellular(188;0.244) all cancers(112;0.000521)|Epithelial(112;0.000892)|OV - Ovarian serous cystadenocarcinoma(117;0.0148)|Lung(94;0.0189)|LUSC - Lung squamous cell carcinoma(192;0.0548) AATCGCTGCTGAAGTGGCTGA 0.408000 28 8 0 0 0.004482 0 0 SLC41A3 54946 broad.mit.edu 37 3 125741705 125741705 + Silent SNP G A A TCGA-D3-A2JA-06A-11D-A196-08 TCGA-D3-A2JA-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx f961ddcc-fb01-4ad1-974e-ccb2656a328e a6cc66c4-23a1-43c8-9989-be2c10aa4f63 g.chr3:125741705G>A uc003eij.3 - 5 895 c.669C>T c.(667-669)ccC>ccT p.P223P SLC41A3_uc003eii.3_Silent_p.P197P|SLC41A3_uc003eil.3_Silent_p.P223P|SLC41A3_uc003eik.3_Silent_p.P187P|SLC41A3_uc011bkh.2_Silent_p.P106P|SLC41A3_uc010hsd.1_Silent_p.P238P NM_001008485 NP_001008485 Q96GZ6 S41A3_HUMAN Homo sapiens solute carrier family 41, member 3 (SLC41A3), transcript variant 1, mRNA. 223 integral to membrane|plasma membrane cation transmembrane transporter activity breast(1)|endometrium(4)|large_intestine(6)|lung(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2) 18 GBM - Glioblastoma multiforme(114;0.167) TGGCTGCAATGGGCGTGGCAA 0.507000 182 48 0 0 0.003610 0 0 C7orf58 79974 broad.mit.edu 37 7 120935499 120935499 + Silent SNP G A A TCGA-D3-A2JA-06A-11D-A196-08 TCGA-D3-A2JA-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx f961ddcc-fb01-4ad1-974e-ccb2656a328e a6cc66c4-23a1-43c8-9989-be2c10aa4f63 g.chr7:120935499G>A uc003vjq.4 + 22 3321 c.2874G>A c.(2872-2874)gtG>gtA p.V958V NM_024913 NP_079189 A4D0V7 CG058_HUMAN Homo sapiens chromosome 7 open reading frame 58 (C7orf58), transcript variant 1, mRNA. 958 endoplasmic reticulum breast(1)|endometrium(3)|kidney(5)|large_intestine(14)|lung(32)|ovary(4)|pancreas(1)|prostate(1)|skin(3)|stomach(1)|urinary_tract(1) 66 all_neural(327;0.117) TACAGGTAGTGAAATCAAAGT 0.328000 8 5 0 0 0.000602 0 0 ACTN2 88 broad.mit.edu 37 1 236925828 236925829 + Missense_Mutation DNP GG AA AA TCGA-D3-A2JA-06A-11D-A196-08 TCGA-D3-A2JA-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx f961ddcc-fb01-4ad1-974e-ccb2656a328e a6cc66c4-23a1-43c8-9989-be2c10aa4f63 g.chr1:236925828_236925829GG>AA uc001hyf.2 + 20 2798_2799 c.2594_2595GG>AA c.(2593-2595)agg>aAA p.R865K ACTN2_uc001hyg.2_Missense_Mutation_p.R657K|ACTN2_uc009xgi.1_Missense_Mutation_p.R865K|ACTN2_uc010pxu.1_Missense_Mutation_p.R554K NM_001103 NP_001094 P35609 ACTN2_HUMAN Homo sapiens actinin, alpha 2 (ACTN2), mRNA. 865 focal adhesion assembly|microspike assembly|muscle filament sliding|platelet activation|platelet degranulation|protein homotetramerization|regulation of apoptosis|synaptic transmission Z disc|actin filament|cytosol|dendritic spine|extracellular region|filopodium|focal adhesion|nucleolus|platelet alpha granule lumen|pseudopodium FATZ 1 binding|ZASP binding|actin binding|calcium ion binding|identical protein binding|integrin binding|protein dimerization activity|structural constituent of muscle|titin Z domain binding|titin binding endometrium(4)|kidney(2)|large_intestine(15)|lung(55)|ovary(4)|prostate(3)|skin(3) 86 Ovarian(103;0.0634)|Breast(184;0.221) all_cancers(173;0.00661)|Acute lymphoblastic leukemia(190;0.109)|Prostate(94;0.174) OV - Ovarian serous cystadenocarcinoma(106;0.00168) TGCATCAAGAGGATGCCCGCCT 0.594000 50 11 0 0 0.004672 0 0 NBAS 51594 broad.mit.edu 37 2 15615855 15615855 + Missense_Mutation SNP G A A TCGA-D3-A2JA-06A-11D-A196-08 TCGA-D3-A2JA-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx f961ddcc-fb01-4ad1-974e-ccb2656a328e a6cc66c4-23a1-43c8-9989-be2c10aa4f63 g.chr2:15615855G>A uc002rcc.1 - 13 1323 c.1297C>T c.(1297-1299)Cct>Tct p.P433S NBAS_uc002rcd.1_Non-coding_Transcript NM_015909 NP_056993 A2RRP1 NBAS_HUMAN Homo sapiens neuroblastoma amplified sequence (NBAS), mRNA. 433 NS(4)|breast(4)|central_nervous_system(3)|endometrium(6)|kidney(5)|large_intestine(12)|liver(1)|lung(54)|ovary(2)|pancreas(3)|prostate(9)|skin(6)|stomach(3) 112 GTGACTTGAGGTGATGGTTCA 0.368000 30 16 0 0 0.008871 0 0 KPRP 448834 broad.mit.edu 37 1 152733110 152733110 + Missense_Mutation SNP C T T TCGA-D3-A2JA-06A-11D-A196-08 TCGA-D3-A2JA-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx f961ddcc-fb01-4ad1-974e-ccb2656a328e a6cc66c4-23a1-43c8-9989-be2c10aa4f63 g.chr1:152733110C>T uc001fal.1 + 1 1104 c.1046C>T c.(1045-1047)cCc>cTc p.P349L KPRP_uc021ozf.1_Missense_Mutation_p.P349L NM_001025231 NP_001020402 Q5T749 KPRP_HUMAN Homo sapiens keratinocyte proline-rich protein (KPRP), mRNA. 349 Pro-rich. cytoplasm NS(1)|breast(1)|endometrium(9)|kidney(1)|large_intestine(10)|lung(21)|ovary(6)|pancreas(1)|prostate(6)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 60 Hepatocellular(266;0.0877)|all_hematologic(923;0.127)|Melanoma(130;0.242) LUSC - Lung squamous cell carcinoma(543;0.206) GAGATTCCTCCCATCAGACGC 0.652000 40 8 0 0 0.006214 0 0 MAST4 375449 broad.mit.edu 37 5 66461599 66461600 + Missense_Mutation DNP CC TT TT TCGA-D3-A2JA-06A-11D-A196-08 TCGA-D3-A2JA-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx f961ddcc-fb01-4ad1-974e-ccb2656a328e a6cc66c4-23a1-43c8-9989-be2c10aa4f63 g.chr5:66461599_66461600CC>TT uc021xzk.1 + 28 6900_6901 c.6592_6593CC>TT c.(6592-6594)cct>TTt p.P2198F MAST4_uc003jut.2_Missense_Mutation_p.P2009F|MAST4_uc003juw.3_Missense_Mutation_p.P1937F|MAST4_uc003jux.3_5'Flank NM_001164664 NP_001158136 O15021 MAST4_HUMAN Homo sapiens microtubule associated serine/threonine kinase family member 4 (MAST4), transcript variant 3, mRNA. 2201 Pro-rich. cytoplasm ATP binding|magnesium ion binding|protein serine/threonine kinase activity breast(2)|central_nervous_system(1)|kidney(2)|lung(6)|ovary(2) 13 Lung NSC(167;8.56e-06)|Prostate(74;0.00637)|Ovarian(174;0.0563)|Breast(144;0.0586)|Colorectal(97;0.245) Lung(70;0.011) CCGGCCTGGCCCTGACCCGGGC 0.658000 5 4 0 0 0.004672 0 0 C19orf46 163183 broad.mit.edu 37 19 36499198 36499199 + Missense_Mutation DNP CC TT TT TCGA-D3-A2JA-06A-11D-A196-08 TCGA-D3-A2JA-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx f961ddcc-fb01-4ad1-974e-ccb2656a328e a6cc66c4-23a1-43c8-9989-be2c10aa4f63 g.chr19:36499198_36499199CC>TT uc002ocq.1 - 1 288_289 c.199_200GG>AA c.(199-201)ggc>AAc p.G67N C19orf46_uc021utd.1_Missense_Mutation_p.G67N|C19orf46_uc002ocr.1_Missense_Mutation_p.G67N|C19orf46_uc002ocs.1_Missense_Mutation_p.G67N|C19orf46_uc010een.1_Intron NM_001039876 NP_001034965 Q8N205 SYNE4_HUMAN Homo sapiens chromosome 19 open reading frame 46 (C19orf46), mRNA. 67 establishment of epithelial cell apical/basal polarity integral to nuclear outer membrane actin binding breast(1)|central_nervous_system(1)|kidney(1)|large_intestine(1)|lung(3)|ovary(1) 8 all_lung(56;1.35e-06)|Lung NSC(56;2.15e-06)|Esophageal squamous(110;0.162) LUSC - Lung squamous cell carcinoma(66;0.06) AGGCTCATTGCCCCTTGGCCCA 0.658000 67 19 0 0 0.004672 0 0 RFWD2 64326 broad.mit.edu 37 1 176050324 176050324 + Missense_Mutation SNP G A A TCGA-D3-A2JA-06A-11D-A196-08 TCGA-D3-A2JA-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx f961ddcc-fb01-4ad1-974e-ccb2656a328e a6cc66c4-23a1-43c8-9989-be2c10aa4f63 g.chr1:176050324G>A uc001gku.1 - 10 1497 c.1241C>T c.(1240-1242)gCt>gTt p.A414V RFWD2_uc001gkv.1_Missense_Mutation_p.A390V|RFWD2_uc001gkw.1_Missense_Mutation_p.A174V|RFWD2_uc009wwv.2_Missense_Mutation_p.A213V|RFWD2_uc001gkt.1_Missense_Mutation_p.A253V NM_022457 NP_071902 Q8NHY2 RFWD2_HUMAN Homo sapiens ring finger and WD repeat domain 2 (RFWD2), transcript variant 1, mRNA. 414 DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest centrosome|cytosol|focal adhesion|nuclear speck protein binding|ubiquitin-protein ligase activity|zinc ion binding endometrium(1)|kidney(2)|large_intestine(5)|lung(17)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1) 30 GAGATCACTAGCATATGACAA 0.353000 174 29 0 0 0.008361 0 0 AOAH 313 broad.mit.edu 37 7 36552800 36552800 + Silent SNP G A A TCGA-D3-A2JA-06A-11D-A196-08 TCGA-D3-A2JA-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx f961ddcc-fb01-4ad1-974e-ccb2656a328e a6cc66c4-23a1-43c8-9989-be2c10aa4f63 g.chr7:36552800G>A uc022abu.1 - 21 2306 c.1905C>T c.(1903-1905)ctC>ctT p.L635L AOAH_uc003tfh.4_3'UTR|AOAH_uc011kba.2_3'UTR NM_001177506 NP_001170977 P28039 AOAH_HUMAN Homo sapiens acyloxyacyl hydrolase (neutrophil) (AOAH), transcript variant 2, mRNA. 0 inflammatory response|lipid metabolic process extracellular region acyloxyacyl hydrolase activity|lipoprotein lipase activity NS(1)|autonomic_ganglia(1)|breast(2)|cervix(1)|endometrium(2)|large_intestine(3)|lung(21)|prostate(5)|skin(1)|stomach(1)|urinary_tract(3) 41 GTTGTGGAATGAGTTTACCCA 0.547000 72 16 0 0 0.006122 0 0 MAGEC3 139081 broad.mit.edu 37 X 140969259 140969259 + Missense_Mutation SNP C T T TCGA-D3-A2JA-06A-11D-A196-08 TCGA-D3-A2JA-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx f961ddcc-fb01-4ad1-974e-ccb2656a328e a6cc66c4-23a1-43c8-9989-be2c10aa4f63 g.chrX:140969259C>T uc011mwp.2 + 3 586 c.586C>T c.(586-588)Ctc>Ttc p.L196F NM_138702 NP_619647 Q8TD91 MAGC3_HUMAN Homo sapiens melanoma antigen family C, 3 (MAGEC3), transcript variant 1, mRNA. 196 MAGE 1. p.L196I(2)|p.L195R(1) NS(2)|breast(3)|central_nervous_system(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(6)|liver(1)|lung(32)|ovary(1)|prostate(1)|skin(5)|stomach(1)|urinary_tract(2) 69 Acute lymphoblastic leukemia(192;6.56e-05) GCAGTTTCTTCTCCTCAAATA 0.443000 39 34 0 0 0.004289 0 0 PAN3 255967 broad.mit.edu 37 13 28748517 28748517 + Missense_Mutation SNP A T T TCGA-D3-A2JA-06A-11D-A196-08 TCGA-D3-A2JA-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx f961ddcc-fb01-4ad1-974e-ccb2656a328e a6cc66c4-23a1-43c8-9989-be2c10aa4f63 g.chr13:28748517A>T uc001urz.3 + 1 691 c.539A>T c.(538-540)tAt>tTt p.Y180F PAN3_uc010tdo.1_Missense_Mutation_p.Y180F|PAN3_uc001ury.3_5'UTR|PAN3_uc001urx.3_Missense_Mutation_p.Y34F NM_175854 NP_787050 Q58A45 PAN3_HUMAN Homo sapiens PAN3 poly(A) specific ribonuclease subunit homolog (S. cerevisiae) (PAN3), mRNA. 180 Interaction with polyadenylate-binding protein. nuclear-transcribed mRNA catabolic process, nonsense-mediated decay|nuclear-transcribed mRNA poly(A) tail shortening centrosome|cytosol ATP binding|protein kinase activity endometrium(1)|kidney(3)|large_intestine(7)|lung(9)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1) 24 Acute lymphoblastic leukemia(6;0.04) Lung SC(185;0.0262) Colorectal(13;0.000334) all cancers(112;0.0102)|Epithelial(112;0.0803)|GBM - Glioblastoma multiforme(144;0.121)|OV - Ovarian serous cystadenocarcinoma(117;0.13)|Lung(94;0.174) GAAACAAAATATCCCCTGATG 0.373000 27 5 0 0 0.001168 0 0 KIAA2026 158358 broad.mit.edu 37 9 5924688 5924688 + Missense_Mutation SNP C T T TCGA-D3-A2JA-06A-11D-A196-08 TCGA-D3-A2JA-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx f961ddcc-fb01-4ad1-974e-ccb2656a328e a6cc66c4-23a1-43c8-9989-be2c10aa4f63 g.chr9:5924688C>T uc003zjq.4 - 6 2872 c.2656G>A c.(2656-2658)Gat>Aat p.D886N KIAA2026_uc010mht.3_Missense_Mutation_p.D61N NM_001017969 NP_001017969 Q5HYC2 K2026_HUMAN Homo sapiens KIAA2026 (KIAA2026), mRNA. 886 breast(6)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(1)|large_intestine(11)|lung(15)|ovary(2)|prostate(2)|skin(1) 46 Acute lymphoblastic leukemia(23;0.158) GBM - Glioblastoma multiforme(50;0.00155)|Lung(218;0.124) TCCAGGATATCCAGAGGTTCT 0.383000 104 21 0 0 0.003330 0 0 CD209 30835 broad.mit.edu 37 19 7809871 7809871 + Missense_Mutation SNP C T T TCGA-D3-A2JA-06A-11D-A196-08 TCGA-D3-A2JA-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx f961ddcc-fb01-4ad1-974e-ccb2656a328e a6cc66c4-23a1-43c8-9989-be2c10aa4f63 g.chr19:7809871C>T uc002mht.2 - 4 923 c.856G>A c.(856-858)Gaa>Aaa p.E286K CD209_uc010xju.1_Missense_Mutation_p.E125K|CD209_uc010dvp.2_Missense_Mutation_p.E262K|CD209_uc002mhr.2_Missense_Mutation_p.E262K|CD209_uc002mhs.2_Missense_Mutation_p.E216K|CD209_uc002mhu.2_Missense_Mutation_p.E194K|CD209_uc010dvq.2_Missense_Mutation_p.E286K|CD209_uc002mhq.2_Missense_Mutation_p.E286K|CD209_uc002mhv.2_Missense_Mutation_p.E262K|CD209_uc002mhx.2_Missense_Mutation_p.E242K|CD209_uc002mhw.2_Missense_Mutation_p.E150K|CD209_uc010dvr.2_Intron NM_021155 NP_066978 Q9NNX6 CD209_HUMAN Homo sapiens CD209 molecule (CD209), transcript variant 1, mRNA. 286 C-type lectin. cell-cell recognition|endocytosis|heterophilic cell-cell adhesion|innate immune response|intracellular signal transduction|intracellular virion transport|leukocyte cell-cell adhesion|peptide antigen transport|viral genome replication|virion attachment to host cell surface receptor cytoplasm|extracellular region|integral to membrane|plasma membrane mannose binding|metal ion binding|peptide antigen binding|receptor activity|virion binding endometrium(7)|kidney(3)|large_intestine(6)|lung(10)|ovary(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1) 35 GCCCCCACTTCTTTGCAGGCG 0.587000 71 12 0 0 0.002450 0 0 LTA4H 4048 broad.mit.edu 37 12 96415987 96415987 + Missense_Mutation SNP G A A TCGA-D3-A2JA-06A-11D-A196-08 TCGA-D3-A2JA-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx f961ddcc-fb01-4ad1-974e-ccb2656a328e a6cc66c4-23a1-43c8-9989-be2c10aa4f63 g.chr12:96415987G>A uc001ten.1 - 4 591 c.523C>T c.(523-525)Cgt>Tgt p.R175C LTA4H_uc010suy.1_Missense_Mutation_p.R137C|LTA4H_uc010suz.1_Missense_Mutation_p.R137C|LTA4H_uc010sva.1_Non-coding_Transcript NM_000895 NP_000886 P09960 LKHA4_HUMAN Homo sapiens leukotriene A4 hydrolase (LTA4H), mRNA. 175 hormone biosynthetic process|inflammatory response|leukotriene biosynthetic process|peptide catabolic process|prostanoid metabolic process|proteolysis cytosol|nucleus aminopeptidase activity|epoxide hydrolase activity|leukotriene-A4 hydrolase activity|metallopeptidase activity|protein binding|zinc ion binding haematopoietic_and_lymphoid_tissue(2)|kidney(3)|lung(4)|skin(2)|stomach(1) 12 TCTCCATCACGAATAGCACTC 0.378000 25 8 0 0 0.000978 0 0 SWI5 375757 broad.mit.edu 37 9 131038524 131038524 + Missense_Mutation SNP C T T TCGA-D3-A2JA-06A-11D-A196-08 TCGA-D3-A2JA-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx f961ddcc-fb01-4ad1-974e-ccb2656a328e a6cc66c4-23a1-43c8-9989-be2c10aa4f63 g.chr9:131038524C>T uc004bup.3 + 0 100 c.100C>T c.(100-102)Cct>Tct p.P34S GOLGA2_uc011maw.2_5'Flank|GOLGA2_uc010mxw.3_5'Flank|GOLGA2_uc004bul.1_5'Flank|SWI5_uc010mxx.1_Missense_Mutation_p.P34S NM_001040011 NP_001035100 Q1ZZU3 SWI5_HUMAN Homo sapiens SWI5 recombination repair homolog (yeast) (SWI5), mRNA. 34 double-strand break repair via homologous recombination Swi5-Sfr1 complex protein binding GGCCGGCTTTCCTTGGGTGCG 0.682000 13 10 0 0 0.006214 0 0 OR2L2 26246 broad.mit.edu 37 1 248201713 248201713 + Silent SNP C T T TCGA-D3-A2JA-06A-11D-A196-08 TCGA-D3-A2JA-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx f961ddcc-fb01-4ad1-974e-ccb2656a328e a6cc66c4-23a1-43c8-9989-be2c10aa4f63 g.chr1:248201713C>T uc001idw.3 + 0 240 c.144C>T c.(142-144)atC>atT p.I48I OR2L13_uc001ids.3_Intron NM_001004686 NP_001004686 Q8NH16 OR2L2_HUMAN Homo sapiens olfactory receptor, family 2, subfamily L, member 2 (OR2L2), mRNA. 48 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity NS(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(28)|ovary(1)|skin(4)|urinary_tract(1) 42 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;0.0278) TTCTTCTCATCTTTTTGGACA 0.393000 237 55 0 0 0.003610 0 0 LSM4 25804 broad.mit.edu 37 19 18420504 18420504 + Missense_Mutation SNP C T T TCGA-D3-A2JA-06A-11D-A196-08 TCGA-D3-A2JA-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx f961ddcc-fb01-4ad1-974e-ccb2656a328e a6cc66c4-23a1-43c8-9989-be2c10aa4f63 g.chr19:18420504C>T uc002niq.3 - 3 483 c.312G>A c.(310-312)atG>atA p.M104I LSM4_uc021uqn.1_Missense_Mutation_p.M90I NM_012321 NP_036453 Q9Y4Z0 LSM4_HUMAN Homo sapiens LSM4 homolog, U6 small nuclear RNA associated (S. cerevisiae) (LSM4), transcript variant 1, mRNA. 104 RNA splicing|exonucleolytic nuclear-transcribed mRNA catabolic process involved in deadenylation-dependent decay|mRNA processing U6 snRNP|cytosol RNA binding|protein binding endometrium(1)|large_intestine(2)|lung(3) 6 CAGCGCCGCCCATGCCGCGGC 0.677000 52 17 0 0 0.008871 0 0 DSG3 1830 broad.mit.edu 37 18 29052340 29052340 + Missense_Mutation SNP G A A TCGA-D3-A2JA-06A-11D-A196-08 TCGA-D3-A2JA-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx f961ddcc-fb01-4ad1-974e-ccb2656a328e a6cc66c4-23a1-43c8-9989-be2c10aa4f63 g.chr18:29052340G>A uc002kws.3 + 12 2100 c.1991G>A c.(1990-1992)gGa>gAa p.G664E DSG3_uc002kwt.3_5'Flank NM_001944 NP_001935 P32926 DSG3_HUMAN Homo sapiens desmoglein 3 (DSG3), mRNA. 664 cellular component disassembly involved in apoptosis|homophilic cell adhesion cytosol|desmosome|integral to membrane calcium ion binding breast(1)|central_nervous_system(2)|cervix(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(28)|ovary(4)|prostate(1)|skin(8)|upper_aerodigestive_tract(1) 62 OV - Ovarian serous cystadenocarcinoma(10;0.00504) GGCTCAGAAGGAACAATTCAT 0.458000 53 17 0 0 0.006122 0 0 KCND3 3752 broad.mit.edu 37 1 112329705 112329705 + Missense_Mutation SNP G T T TCGA-D3-A2JA-06A-11D-A196-08 TCGA-D3-A2JA-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx f961ddcc-fb01-4ad1-974e-ccb2656a328e a6cc66c4-23a1-43c8-9989-be2c10aa4f63 g.chr1:112329705G>T uc001ebu.1 - 2 1610 c.1130C>A c.(1129-1131)aCg>aAg p.T377K KCND3_uc001ebv.1_Missense_Mutation_p.T377K NM_004980 NP_004971 Q9UK17 KCND3_HUMAN Homo sapiens potassium voltage-gated channel, Shal-related subfamily, member 3 (KCND3), transcript variant 1, mRNA. 377 sarcolemma|voltage-gated potassium channel complex A-type (transient outward) potassium channel activity|metal ion binding NS(1)|breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(16)|lung(9)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(4)|urinary_tract(2) 49 all_cancers(81;8.52e-06)|all_epithelial(167;5.65e-06)|all_lung(203;2.72e-05)|Lung NSC(69;4.56e-05) all cancers(265;0.056)|Lung(183;0.0576)|Colorectal(144;0.1)|Epithelial(280;0.104)|COAD - Colon adenocarcinoma(174;0.222)|LUSC - Lung squamous cell carcinoma(189;0.231) CCCTGCAATCGTCTTAGGCAC 0.527000 42 31 2.42023e-17 2.78451e-17 0.003271 1 0 C1QC 714 broad.mit.edu 37 1 22973793 22973793 + Silent SNP G A A TCGA-D3-A2JA-06A-11D-A196-08 TCGA-D3-A2JA-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx f961ddcc-fb01-4ad1-974e-ccb2656a328e a6cc66c4-23a1-43c8-9989-be2c10aa4f63 g.chr1:22973793G>A uc001bgc.4 + 2 358 c.255G>A c.(253-255)ggG>ggA p.G85G C1QC_uc001bga.4_Silent_p.G85G NM_172369 NP_758957 P02747 C1QC_HUMAN Homo sapiens complement component 1, q subcomponent, C chain (C1QC), transcript variant 2, mRNA. 85 Collagen-like. complement activation, classical pathway|innate immune response|negative regulation of granulocyte differentiation|negative regulation of macrophage differentiation collagen endometrium(2)|kidney(1)|large_intestine(3)|lung(4)|prostate(1)|skin(3)|upper_aerodigestive_tract(1) 15 Colorectal(325;3.46e-05)|Lung NSC(340;6.55e-05)|all_lung(284;9.87e-05)|Renal(390;0.000219)|Breast(348;0.00262)|Ovarian(437;0.00308)|Myeloproliferative disorder(586;0.0255) UCEC - Uterine corpus endometrioid carcinoma (279;0.0227)|OV - Ovarian serous cystadenocarcinoma(117;6.21e-27)|Colorectal(126;1.5e-07)|COAD - Colon adenocarcinoma(152;1.12e-05)|GBM - Glioblastoma multiforme(114;1.61e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000538)|KIRC - Kidney renal clear cell carcinoma(1967;0.00269)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.196) Abciximab(DB00054)|Adalimumab(DB00051)|Alefacept(DB00092)|Alemtuzumab(DB00087)|Basiliximab(DB00074)|Bevacizumab(DB00112)|Cetuximab(DB00002)|Daclizumab(DB00111)|Efalizumab(DB00095)|Etanercept(DB00005)|Gemtuzumab ozogamicin(DB00056)|Ibritumomab(DB00078)|Immune globulin(DB00028)|Muromonab(DB00075)|Natalizumab(DB00108)|Palivizumab(DB00110)|Rituximab(DB00073)|Tositumomab(DB00081)|Trastuzumab(DB00072) GCCATCCTGGGAAAAATGGCC 0.622000 27 25 0 0 0.004656 0 0 ARHGEF10L 55160 broad.mit.edu 37 1 17934436 17934436 + Silent SNP C T T TCGA-D3-A2JA-06A-11D-A196-08 TCGA-D3-A2JA-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx f961ddcc-fb01-4ad1-974e-ccb2656a328e a6cc66c4-23a1-43c8-9989-be2c10aa4f63 g.chr1:17934436C>T uc001ban.3 + 6 732 c.573C>T c.(571-573)gtC>gtT p.V191V ARHGEF10L_uc009vpe.1_Silent_p.V191V|ARHGEF10L_uc001bao.3_Silent_p.V191V|ARHGEF10L_uc001bap.3_Silent_p.V191V|ARHGEF10L_uc010ocr.1_5'UTR NM_018125 NP_060595 Q9HCE6 ARGAL_HUMAN Homo sapiens Rho guanine nucleotide exchange factor (GEF) 10-like (ARHGEF10L), transcript variant 1, mRNA. 191 regulation of Rho protein signal transduction cytoplasm Rho guanyl-nucleotide exchange factor activity NS(1)|breast(1)|central_nervous_system(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|liver(2)|lung(16)|ovary(4)|pancreas(1)|prostate(3)|skin(1)|upper_aerodigestive_tract(1) 43 Colorectal(325;3.46e-05)|Breast(348;0.000162)|all_lung(284;0.000337)|Lung NSC(340;0.000419)|Renal(390;0.000518)|Ovarian(437;0.00409)|Myeloproliferative disorder(586;0.0255) UCEC - Uterine corpus endometrioid carcinoma (279;0.00598)|COAD - Colon adenocarcinoma(227;1.62e-05)|BRCA - Breast invasive adenocarcinoma(304;1.68e-05)|Kidney(64;0.000269)|KIRC - Kidney renal clear cell carcinoma(64;0.00361)|STAD - Stomach adenocarcinoma(196;0.00656)|READ - Rectum adenocarcinoma(331;0.0718)|Lung(427;0.204) AGGTCGAGGTCGAGCCCGCCA 0.692000 6 5 0 0 0.000602 0 0 PAPPA2 60676 broad.mit.edu 37 1 176760578 176760578 + Silent SNP G A A TCGA-D3-A2JA-06A-11D-A196-08 TCGA-D3-A2JA-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx f961ddcc-fb01-4ad1-974e-ccb2656a328e a6cc66c4-23a1-43c8-9989-be2c10aa4f63 g.chr1:176760578G>A uc001gkz.3 + 18 6144 c.4980G>A c.(4978-4980)ctG>ctA p.L1660L PAPPA2_uc009www.3_Non-coding_Transcript NM_020318 NP_064714 Q9BXP8 PAPP2_HUMAN Homo sapiens pappalysin 2 (PAPPA2), transcript variant 1, mRNA. 1660 Sushi 5. cell differentiation|proteolysis|regulation of cell growth extracellular region|intracellular|membrane metalloendopeptidase activity|zinc ion binding p.L1660M(1) NS(3)|breast(3)|central_nervous_system(7)|cervix(5)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(19)|lung(136)|ovary(7)|pancreas(1)|prostate(4)|skin(10)|upper_aerodigestive_tract(8)|urinary_tract(1) 226 CCTCAGAGCTGAATTCTGTGG 0.443000 26 21 0 0 0.001882 0 0 KEL 3792 broad.mit.edu 37 7 142658181 142658181 + Silent SNP C T T TCGA-D3-A2JA-06A-11D-A196-08 TCGA-D3-A2JA-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx f961ddcc-fb01-4ad1-974e-ccb2656a328e a6cc66c4-23a1-43c8-9989-be2c10aa4f63 g.chr7:142658181C>T uc003wcb.3 - 3 444 c.234G>A c.(232-234)gaG>gaA p.E78E NM_000420 NP_000411 P23276 KELL_HUMAN Homo sapiens Kell blood group, metallo-endopeptidase (KEL), mRNA. 78 proteolysis|vasoconstriction integral to membrane|plasma membrane metal ion binding|metalloendopeptidase activity|protein binding central_nervous_system(1)|endometrium(3)|kidney(5)|large_intestine(11)|lung(34)|ovary(3)|prostate(2)|skin(1) 60 Melanoma(164;0.059) ACACAGATGTCTCACAGGGGC 0.552000 59 9 0 0 0.004482 0 0 POT1 25913 broad.mit.edu 37 7 124469334 124469334 + Missense_Mutation SNP G A A rs139388603 TCGA-D3-A2JA-06A-11D-A196-08 TCGA-D3-A2JA-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx f961ddcc-fb01-4ad1-974e-ccb2656a328e a6cc66c4-23a1-43c8-9989-be2c10aa4f63 g.chr7:124469334G>A uc003vlm.3 - 15 2169 c.1568C>T c.(1567-1569)tCg>tTg p.S523L POT1_uc011koe.2_Non-coding_Transcript|POT1_uc003vlk.3_Non-coding_Transcript|POT1_uc003vll.3_Non-coding_Transcript|POT1_uc003vln.3_Intron|POT1_uc003vlo.3_Missense_Mutation_p.S392L NM_015450 NP_001036059 Q9NUX5 POTE1_HUMAN Homo sapiens protection of telomeres 1 homolog (S. pombe) (POT1), transcript variant 1, mRNA. 523 DNA duplex unwinding|negative regulation of telomere maintenance via telomerase|positive regulation of DNA strand elongation|positive regulation of helicase activity|positive regulation of telomerase activity|positive regulation of telomere maintenance via telomerase|telomere capping|telomere formation via telomerase|telomere maintenance via telomerase nuclear telomere cap complex|nucleoplasm DEAD/H-box RNA helicase binding|single-stranded telomeric DNA binding|telomerase inhibitor activity NS(1)|breast(2)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(4)|liver(1)|lung(23)|ovary(1)|prostate(1)|skin(3)|stomach(1)|urinary_tract(1) 47 AGGAATCCACGATGTTTTATC 0.308000 95 40 0 0 0.003610 0 0 LRP1B 53353 broad.mit.edu 37 2 141215198 141215198 + Silent SNP C T T TCGA-D3-A2JA-06A-11D-A196-08 TCGA-D3-A2JA-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx f961ddcc-fb01-4ad1-974e-ccb2656a328e a6cc66c4-23a1-43c8-9989-be2c10aa4f63 g.chr2:141215198C>T uc002tvj.1 - 60 10620 c.9648G>A c.(9646-9648)ggG>ggA p.G3216G NM_018557 NP_061027 Q9NZR2 LRP1B_HUMAN Homo sapiens low density lipoprotein receptor-related protein 1B (LRP1B), mRNA. 3216 protein transport|receptor-mediated endocytosis integral to membrane calcium ion binding NS(5)|autonomic_ganglia(1)|biliary_tract(1)|breast(3)|central_nervous_system(7)|endometrium(25)|haematopoietic_and_lymphoid_tissue(10)|kidney(27)|large_intestine(98)|liver(4)|lung(337)|ovary(15)|pancreas(6)|prostate(11)|skin(30)|stomach(2)|upper_aerodigestive_tract(19)|urinary_tract(5) 606 all_cancers(3;1.1e-60)|all_epithelial(3;1.94e-59)|all_lung(3;1.09e-24)|Lung NSC(3;5.65e-24)|Esophageal squamous(3;5.41e-13)|Renal(3;0.000147)|Breast(3;0.000527)|Hepatocellular(3;0.011)|all_neural(3;0.014)|Colorectal(150;0.101) UCEC - Uterine corpus endometrioid carcinoma (2;0.00139)|Epithelial(1;1.25e-24)|all cancers(1;8.86e-24)|OV - Ovarian serous cystadenocarcinoma(1;2.45e-12)|LUSC - Lung squamous cell carcinoma(1;2.97e-10)|Lung(1;6.05e-09)|BRCA - Breast invasive adenocarcinoma(221;0.0103) GTGCAATCACCCCTGGAATAT 0.423000 TSP Lung(27;0.18) 133 30 0 0 0.002096 0 0 SLC2A9 56606 broad.mit.edu 37 4 9892272 9892272 + Missense_Mutation SNP G A A TCGA-D3-A2JA-06A-11D-A196-08 TCGA-D3-A2JA-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx f961ddcc-fb01-4ad1-974e-ccb2656a328e a6cc66c4-23a1-43c8-9989-be2c10aa4f63 g.chr4:9892272G>A uc003gmc.3 - 8 1238 c.1177C>T c.(1177-1179)Ctc>Ttc p.L393F SLC2A9_uc003gmd.3_Missense_Mutation_p.L364F NM_020041 NP_064425 Q9NRM0 GTR9_HUMAN Homo sapiens solute carrier family 2 (facilitated glucose transporter), member 9 (SLC2A9), transcript variant 1, mRNA. 393 glucose transport|urate metabolic process integral to membrane|plasma membrane sugar:hydrogen symporter activity NS(1)|breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(12)|ovary(3)|pancreas(1)|prostate(2)|skin(4)|stomach(1) 35 CCAAAGAAGAGGCCCATGAGC 0.522000 28 6 0 0 0.001984 0 0 OR8K1 390157 broad.mit.edu 37 11 56114096 56114096 + Silent SNP C T T TCGA-D3-A2JA-06A-11D-A196-08 TCGA-D3-A2JA-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx f961ddcc-fb01-4ad1-974e-ccb2656a328e a6cc66c4-23a1-43c8-9989-be2c10aa4f63 g.chr11:56114096C>T uc010rjg.2 + 0 582 c.582C>T c.(580-582)ctC>ctT p.L194L NM_001002907 NP_001002907 Q8NGG5 OR8K1_HUMAN Homo sapiens olfactory receptor, family 8, subfamily K, member 1 (OR8K1), mRNA. 194 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity large_intestine(8)|liver(2)|lung(13)|ovary(1)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1) 33 Esophageal squamous(21;0.00448) TGTCCATACTCTGTTCTGACA 0.338000 HNSCC(65;0.19) 48 51 0 0 0.003610 0 0 ARMC6 93436 broad.mit.edu 37 19 19168362 19168362 + Silent SNP C T T TCGA-D3-A2JA-06A-11D-A196-08 TCGA-D3-A2JA-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx f961ddcc-fb01-4ad1-974e-ccb2656a328e a6cc66c4-23a1-43c8-9989-be2c10aa4f63 g.chr19:19168362C>T uc002nld.3 + 8 1863 c.1431C>T c.(1429-1431)gcC>gcT p.A477A ARMC6_uc002nlc.3_Silent_p.A452A|ARMC6_uc010xql.2_Silent_p.A384A|ARMC6_uc010xqm.2_Silent_p.A477A NM_001199196 NP_001186125 Q6NXE6 ARMC6_HUMAN Homo sapiens armadillo repeat containing 6 (ARMC6), transcript variant 1, mRNA. 477 protein binding NS(1)|endometrium(2)|kidney(1)|large_intestine(1)|liver(2)|lung(5)|ovary(1)|prostate(1) 14 OV - Ovarian serous cystadenocarcinoma(5;5.66e-06)|Epithelial(12;0.000391) TGGCCAAGGCCGCCCTGCGGG 0.677000 76 18 0 0 0.006122 0 0 OR4A5 81318 broad.mit.edu 37 11 51411637 51411637 + Silent SNP G A A TCGA-D3-A2JA-06A-11D-A196-08 TCGA-D3-A2JA-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx f961ddcc-fb01-4ad1-974e-ccb2656a328e a6cc66c4-23a1-43c8-9989-be2c10aa4f63 g.chr11:51411637G>A uc001nhi.2 - 0 812 c.759C>T c.(757-759)ttC>ttT p.F253F NM_001005272 NP_001005272 Q8NH83 OR4A5_HUMAN Homo sapiens olfactory receptor, family 4, subfamily A, member 5 (OR4A5), mRNA. 253 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity NS(1)|breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(8)|lung(28)|ovary(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1) 49 all_lung(304;0.236) TAACATATATGAAAATACAGG 0.393000 12 19 0 0 0.008871 0 0 EXOC6 54536 broad.mit.edu 37 10 94653221 94653221 + Missense_Mutation SNP T A A TCGA-D3-A2JA-06A-11D-A196-08 TCGA-D3-A2JA-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx f961ddcc-fb01-4ad1-974e-ccb2656a328e a6cc66c4-23a1-43c8-9989-be2c10aa4f63 g.chr10:94653221T>A uc010qnr.2 + 2 408 c.265T>A c.(265-267)Ttt>Att p.F89I EXOC6_uc001kie.3_Missense_Mutation_p.F68I|EXOC6_uc001kif.4_Missense_Mutation_p.F73I|EXOC6_uc001kig.3_Missense_Mutation_p.F73I|EXOC6_uc009xub.3_Missense_Mutation_p.F73I|EXOC6_uc009xuc.3_Missense_Mutation_p.F73I NM_001013848 NP_001013870 Q8TAG9 EXOC6_HUMAN Homo sapiens exocyst complex component 6 (EXOC6), transcript variant 2, mRNA. 73 protein transport|vesicle docking involved in exocytosis exocyst cervix(1)|endometrium(3)|kidney(2)|large_intestine(13)|lung(4)|ovary(1)|skin(1)|urinary_tract(1) 26 Colorectal(252;0.123) TCATCAGGGTTTTGTAGATGC 0.323000 362 103 0 0 0.003610 0 0 DNAH2 146754 broad.mit.edu 37 17 7710634 7710634 + Missense_Mutation SNP G A A TCGA-D3-A2JA-06A-11D-A196-08 TCGA-D3-A2JA-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx f961ddcc-fb01-4ad1-974e-ccb2656a328e a6cc66c4-23a1-43c8-9989-be2c10aa4f63 g.chr17:7710634G>A uc002giu.1 + 60 9623 c.9609G>A c.(9607-9609)atG>atA p.M3203I DNAH2_uc010cnm.1_Missense_Mutation_p.M141I NM_020877 NP_065928 Q9P225 DYH2_HUMAN Homo sapiens dynein, axonemal, heavy chain 2 (DNAH2), mRNA. 3203 Stalk (By similarity). ciliary or flagellar motility|microtubule-based movement axonemal dynein complex|cilium axoneme|cytoplasm|microtubule ATP binding|ATPase activity|microtubule motor activity NS(3)|breast(11)|central_nervous_system(1)|cervix(3)|endometrium(18)|haematopoietic_and_lymphoid_tissue(2)|kidney(16)|large_intestine(53)|liver(2)|lung(49)|ovary(7)|prostate(7)|skin(15)|upper_aerodigestive_tract(1)|urinary_tract(1) 189 all_cancers(10;4.66e-07)|Prostate(122;0.081) TGCGGGCCATGGAGGTAAAGG 0.667000 39 33 0 0 0.002836 0 0 GABRB3 2562 broad.mit.edu 37 15 26792988 26792988 + Silent SNP G A A TCGA-D3-A2JA-06A-11D-A196-08 TCGA-D3-A2JA-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx f961ddcc-fb01-4ad1-974e-ccb2656a328e a6cc66c4-23a1-43c8-9989-be2c10aa4f63 g.chr15:26792988G>A uc001zbb.3 - 9 1645 c.1542C>T c.(1540-1542)ttC>ttT p.F514F GABRB3_uc021sgg.1_Silent_p.F387F|GABRB3_uc021sgh.1_Silent_p.F373F|GABRB3_uc001zaz.3_Silent_p.F458F|GABRB3_uc001zba.3_Silent_p.F458F NM_001191320 NP_001178249 P28472 GBRB3_HUMAN Homo sapiens gamma-aminobutyric acid (GABA) A receptor, beta 3 (GABRB3), transcript variant 3, mRNA. 458 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 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) GAGAAAAAGTGAATGGAAACA 0.373000 44 13 0 0 0.001855 0 0 DSC1 1823 broad.mit.edu 37 18 28713961 28713961 + Missense_Mutation SNP G A A TCGA-D3-A2JA-06A-11D-A196-08 TCGA-D3-A2JA-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx f961ddcc-fb01-4ad1-974e-ccb2656a328e a6cc66c4-23a1-43c8-9989-be2c10aa4f63 g.chr18:28713961G>A uc002kwn.3 - 12 2271 c.2009C>T c.(2008-2010)cCa>cTa p.P670L DSC1_uc002kwm.3_Missense_Mutation_p.P670L NM_024421 NP_077739 Q08554 DSC1_HUMAN Homo sapiens desmocollin 1 (DSC1), transcript variant Dsc1a, mRNA. 670 Cadherin 5. homophilic cell adhesion desmosome|gap junction|integral to membrane|membrane fraction calcium ion binding breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(8)|lung(20)|ovary(3)|skin(10)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1) 53 OV - Ovarian serous cystadenocarcinoma(10;0.00778) ACACTCAGATGGAGTTGAACA 0.363000 89 24 0 0 0.006320 0 0 SPEM1 374768 broad.mit.edu 37 17 7324662 7324662 + Missense_Mutation SNP G A A TCGA-D3-A2JA-06A-11D-A196-08 TCGA-D3-A2JA-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx f961ddcc-fb01-4ad1-974e-ccb2656a328e a6cc66c4-23a1-43c8-9989-be2c10aa4f63 g.chr17:7324662G>A uc002ggv.3 + 2 693 c.668G>A c.(667-669)gGg>gAg p.G223E SPEM1_uc010vtw.1_Intron NM_199339 NP_955371 Q8N4L4 SPEM1_HUMAN Homo sapiens spermatid maturation 1 (SPEM1), mRNA. 223 cell differentiation|multicellular organismal development|spermatogenesis cytoplasm|integral to membrane endometrium(2)|kidney(1)|large_intestine(1)|lung(6)|skin(1)|upper_aerodigestive_tract(1) 12 Prostate(122;0.173) AAGAACGGTGGGGAGGGGGCG 0.642000 22 18 0 0 0.008871 0 0 KSR2 283455 broad.mit.edu 37 12 118199237 118199237 + Missense_Mutation SNP G A A TCGA-D3-A2JA-06A-11D-A196-08 TCGA-D3-A2JA-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx f961ddcc-fb01-4ad1-974e-ccb2656a328e a6cc66c4-23a1-43c8-9989-be2c10aa4f63 g.chr12:118199237G>A uc001two.2 - 3 533 c.478C>T c.(478-480)Ccg>Tcg p.P160S NM_173598 NP_775869 Q6VAB6 KSR2_HUMAN Homo sapiens kinase suppressor of ras 2 (KSR2), mRNA. 189 intracellular signal transduction cytoplasm|membrane ATP binding|metal ion binding|protein serine/threonine kinase activity p.C160C(1) NS(1)|breast(3)|central_nervous_system(2)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|lung(25)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 67 all_neural(191;0.0804)|Medulloblastoma(191;0.0922) CGGATCCACGGGGTGGGCTCC 0.637000 51 30 0 0 0.002445 0 0 CCDC73 493860 broad.mit.edu 37 11 32635935 32635935 + Silent SNP C T T TCGA-D3-A2JA-06A-11D-A196-08 TCGA-D3-A2JA-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx f961ddcc-fb01-4ad1-974e-ccb2656a328e a6cc66c4-23a1-43c8-9989-be2c10aa4f63 g.chr11:32635935C>T uc001mtv.3 - 15 1973 c.1929G>A c.(1927-1929)caG>caA p.Q643Q NM_001008391 NP_001008392 Q6ZRK6 CCD73_HUMAN Homo sapiens coiled-coil domain containing 73 (CCDC73), mRNA. 643 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) AACTATATTTCTGACATGGAA 0.308000 18 14 0 0 0.002450 0 0 MORC1 27136 broad.mit.edu 37 3 108776192 108776192 + Silent SNP G A A TCGA-D3-A2JA-06A-11D-A196-08 TCGA-D3-A2JA-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx f961ddcc-fb01-4ad1-974e-ccb2656a328e a6cc66c4-23a1-43c8-9989-be2c10aa4f63 g.chr3:108776192G>A uc003dxl.3 - 12 1260 c.1173C>T c.(1171-1173)tcC>tcT p.S391S MORC1_uc011bhn.2_Silent_p.S391S NM_014429 NP_055244 Q86VD1 MORC1_HUMAN Homo sapiens MORC family CW-type zinc finger 1 (MORC1), mRNA. 391 cell differentiation|multicellular organismal development|spermatogenesis nucleus ATP binding|zinc ion binding breast(7)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(14)|lung(47)|ovary(3)|prostate(6)|skin(12)|upper_aerodigestive_tract(3) 105 ATACTCACAAGGACTTCAGTT 0.393000 55 20 0 0 0.002780 0 0 GRIN3A 116443 broad.mit.edu 37 9 104449345 104449345 + Silent SNP G A A TCGA-D3-A2JA-06A-11D-A196-08 TCGA-D3-A2JA-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx f961ddcc-fb01-4ad1-974e-ccb2656a328e a6cc66c4-23a1-43c8-9989-be2c10aa4f63 g.chr9:104449345G>A uc004bbp.2 - 1 1438 c.837C>T c.(835-837)ttC>ttT p.F279F GRIN3A_uc004bbq.1_Silent_p.F279F NM_133445 NP_597702 Q8TCU5 NMD3A_HUMAN Homo sapiens glutamate receptor, ionotropic, N-methyl-D-aspartate 3A (GRIN3A), mRNA. 279 response to ethanol N-methyl-D-aspartate selective glutamate receptor complex|cell junction|neuron projection|neuronal cell body|outer membrane-bounded periplasmic space|postsynaptic density|postsynaptic membrane N-methyl-D-aspartate selective glutamate receptor activity|extracellular-glutamate-gated ion channel activity|glycine binding|identical protein binding|protein phosphatase 2A binding breast(2)|central_nervous_system(2)|endometrium(4)|kidney(3)|large_intestine(12)|lung(44)|ovary(4)|pancreas(1)|skin(7)|upper_aerodigestive_tract(1) 80 Acute lymphoblastic leukemia(62;0.0568) Acamprosate(DB00659)|Chloroprocaine(DB01161)|Dextromethorphan(DB00514)|Ethanol(DB00898)|Ethopropazine(DB00392)|Felbamate(DB00949)|Ketamine(DB01221)|L-Glutamic Acid(DB00142)|Memantine(DB01043)|Meperidine(DB00454)|Methadone(DB00333)|Orphenadrine(DB01173)|Procaine(DB00721)|Riluzole(DB00740) TAAGGAGGAGGAAGTCGGTGA 0.473000 57 57 0 0 0.003610 0 0 GAN 8139 broad.mit.edu 37 16 81411074 81411074 + Missense_Mutation SNP A C C TCGA-D3-A2JA-06A-11D-A196-08 TCGA-D3-A2JA-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx f961ddcc-fb01-4ad1-974e-ccb2656a328e a6cc66c4-23a1-43c8-9989-be2c10aa4f63 g.chr16:81411074A>C uc002fgo.3 + 10 1815 c.1667A>C c.(1666-1668)cAc>cCc p.H556P NM_022041 NP_071324 Q9H2C0 GAN_HUMAN Homo sapiens gigaxonin (GAN), mRNA. 556 cell death cytoplasm|neurofilament protein binding central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(8)|lung(12)|ovary(2) 25 Colorectal(91;0.153) ACCTGGCACCACACTAAACCA 0.488000 113 36 0 0 0.004878 0 0 TAPBPL 55080 broad.mit.edu 37 12 6562851 6562851 + Silent SNP A T T TCGA-D3-A2JA-06A-11D-A196-08 TCGA-D3-A2JA-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx f961ddcc-fb01-4ad1-974e-ccb2656a328e a6cc66c4-23a1-43c8-9989-be2c10aa4f63 g.chr12:6562851A>T uc001qog.4 + 2 772 c.534A>T c.(532-534)ccA>ccT p.P178P CD27-AS1_uc001qob.2_5'Flank|CD27-AS1_uc009zel.1_5'Flank|CD27-AS1_uc001qof.3_5'Flank|CD27-AS1_uc009zem.2_5'Flank|TAPBPL_uc001qoi.1_Non-coding_Transcript NM_018009 NP_060479 Q9BX59 TPSNR_HUMAN Homo sapiens TAP binding protein-like (TAPBPL), mRNA. 178 antigen processing and presentation of endogenous peptide antigen via MHC class I endoplasmic reticulum membrane|integral to membrane|microsome|plasma membrane endometrium(2)|large_intestine(1)|skin(2)|upper_aerodigestive_tract(1) 6 TGAACTTGCCACTGAGCCCCC 0.557000 23 12 0 0 0.001855 0 0 PCLO 27445 broad.mit.edu 37 7 82764399 82764399 + Nonsense_Mutation SNP G A A TCGA-D3-A2JA-06A-11D-A196-08 TCGA-D3-A2JA-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx f961ddcc-fb01-4ad1-974e-ccb2656a328e a6cc66c4-23a1-43c8-9989-be2c10aa4f63 g.chr7:82764399G>A uc003uhx.2 - 2 2756 c.2467C>T c.(2467-2469)Cga>Tga p.R823* PCLO_uc003uhv.2_Nonsense_Mutation_p.R823* NM_033026 NP_149015 Q9Y6V0 PCLO_HUMAN Homo sapiens piccolo (presynaptic cytomatrix protein) (PCLO), transcript variant 1, mRNA. 769 Pro-rich. cytoskeleton organization|synaptic vesicle exocytosis cell junction|cytoskeleton|synaptic vesicle calcium ion binding|calcium-dependent phospholipid binding|profilin binding|transporter activity p.R823L(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 GATGCAGGTCGAGGTATGGCT 0.438000 154 81 0 0 0.003610 0 0 OR5T2 219464 broad.mit.edu 37 11 56000188 56000188 + Silent SNP A G G TCGA-D3-A2JA-06A-11D-A196-08 TCGA-D3-A2JA-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx f961ddcc-fb01-4ad1-974e-ccb2656a328e a6cc66c4-23a1-43c8-9989-be2c10aa4f63 g.chr11:56000188A>G uc010rjc.2 - 0 474 c.474T>C c.(472-474)gcT>gcC p.A158A NM_001004746 NP_001004746 Q8NGG2 OR5T2_HUMAN Homo sapiens olfactory receptor, family 5, subfamily T, member 2 (OR5T2), mRNA. 158 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity endometrium(6)|kidney(1)|large_intestine(5)|lung(22)|ovary(2)|prostate(1)|skin(1)|stomach(3) 41 Esophageal squamous(21;0.00448) AGCGATCATAAGCCATTGCAG 0.443000 52 61 0 0 0.003610 0 0 C3orf64 285203 broad.mit.edu 37 3 69047162 69047162 + Splice_Site SNP G T T TCGA-D3-A2JA-06A-11D-A196-08 TCGA-D3-A2JA-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx f961ddcc-fb01-4ad1-974e-ccb2656a328e a6cc66c4-23a1-43c8-9989-be2c10aa4f63 g.chr3:69047162G>T uc003dnl.3 - 10 1236 c.831_splice c.e10+1 p.T277_splice C3orf64_uc003dnj.3_Splice_Site|C3orf64_uc003dnk.3_Splice_Site_p.T277_splice|C3orf64_uc011bfw.2_Intron|C3orf64_uc003dnm.1_Splice_Site NM_173654 NP_775925 Q5NDL2 AER61_HUMAN Homo sapiens chromosome 3 open reading frame 64 (C3orf64), mRNA. 277 extracellular region transferase activity, transferring glycosyl groups NS(1)|endometrium(1)|large_intestine(4)|lung(3)|ovary(1)|skin(1)|urinary_tract(1) 12 Lung NSC(201;0.126) BRCA - Breast invasive adenocarcinoma(55;4.61e-05)|Epithelial(33;0.000291)|LUSC - Lung squamous cell carcinoma(21;0.0127)|KIRC - Kidney renal clear cell carcinoma(39;0.216) TCTTACTTACGGTGTCCCACA 0.378000 95 5 3.59834e-05 4.04813e-05 0.001168 1 0 B4GALNT3 283358 broad.mit.edu 37 12 662611 662611 + Missense_Mutation SNP G T T TCGA-D3-A2JA-06A-11D-A196-08 TCGA-D3-A2JA-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx f961ddcc-fb01-4ad1-974e-ccb2656a328e a6cc66c4-23a1-43c8-9989-be2c10aa4f63 g.chr12:662611G>T uc001qii.1 + 13 1522 c.1522G>T c.(1522-1524)Gtg>Ttg p.V508L B4GALNT3_uc001qij.1_Missense_Mutation_p.V411L|B4GALNT3_uc001qik.1_Missense_Mutation_p.V57L NM_173593 NP_775864 Q6L9W6 B4GN3_HUMAN Homo sapiens beta-1,4-N-acetyl-galactosaminyl transferase 3 (B4GALNT3), mRNA. 508 Golgi cisterna membrane|integral to membrane N-acetyl-beta-glucosaminyl-glycoprotein 4-beta-N-acetylgalactosaminyltransferase activity breast(1)|central_nervous_system(1)|endometrium(6)|kidney(3)|large_intestine(1)|lung(10)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1) 26 all_cancers(10;0.0158)|all_epithelial(11;0.0274)|Ovarian(42;0.0512)|all_lung(10;0.154)|Lung NSC(10;0.215) OV - Ovarian serous cystadenocarcinoma(31;0.00018)|BRCA - Breast invasive adenocarcinoma(9;0.0262) CCACATTCCAGTGCAGCAGCC 0.622000 27 18 6.94344e-10 7.95573e-10 0.006122 1 0 ITGAM 3684 broad.mit.edu 37 16 31332564 31332564 + Silent SNP G A A TCGA-D3-A2JA-06A-11D-A196-08 TCGA-D3-A2JA-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx f961ddcc-fb01-4ad1-974e-ccb2656a328e a6cc66c4-23a1-43c8-9989-be2c10aa4f63 g.chr16:31332564G>A uc002ebr.3 + 14 1811 c.1713G>A c.(1711-1713)cgG>cgA p.R571R ITGAM_uc002ebq.3_Silent_p.R570R|ITGAM_uc010cam.1_Intron|ITGAM_uc010can.3_5'UTR|ITGAM_uc002ebs.1_5'UTR NM_001145808 NP_001139280 P11215 ITAM_HUMAN Homo sapiens integrin, alpha M (complement component 3 receptor 3 subunit) (ITGAM), transcript variant 1, mRNA. 570 blood coagulation|cell adhesion|integrin-mediated signaling pathway|leukocyte migration integrin complex glycoprotein binding|receptor activity p.R570Q(1) endometrium(7)|kidney(1)|large_intestine(10)|lung(32)|ovary(1)|prostate(4)|skin(1) 56 ACCCTCAGCGGATAGCAGGCT 0.522000 138 41 0 0 0.003610 0 0 CCDC39 339829 broad.mit.edu 37 3 180377473 180377473 + Missense_Mutation SNP T C C TCGA-D3-A2JA-06A-11D-A196-08 TCGA-D3-A2JA-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx f961ddcc-fb01-4ad1-974e-ccb2656a328e a6cc66c4-23a1-43c8-9989-be2c10aa4f63 g.chr3:180377473T>C uc010hxe.3 - 4 716 c.601A>G c.(601-603)Agc>Ggc p.S201G CCDC39_uc003fkn.3_Non-coding_Transcript NM_181426 NP_852091 Q9UFE4 CCD39_HUMAN Homo sapiens coiled-coil domain containing 39 (CCDC39), mRNA. 201 axonemal dynein complex assembly|ciliary cell motility|cilium movement involved in determination of left/right asymmetry|flagellar cell motility cilium axoneme|cytoplasm|cytoskeleton NS(1)|breast(1)|endometrium(4)|large_intestine(9)|lung(22)|ovary(6)|prostate(2) 45 all_cancers(143;9.31e-15)|Ovarian(172;0.0212) OV - Ovarian serous cystadenocarcinoma(80;5.62e-23)|GBM - Glioblastoma multiforme(14;0.000558) ACCTGTGCGCTTATAGTCTCT 0.323000 43 29 0 0 0.001786 0 0 SNCAIP 9627 broad.mit.edu 37 5 121787024 121787024 + Missense_Mutation SNP C T T TCGA-D3-A2JA-06A-11D-A196-08 TCGA-D3-A2JA-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx f961ddcc-fb01-4ad1-974e-ccb2656a328e a6cc66c4-23a1-43c8-9989-be2c10aa4f63 g.chr5:121787024C>T uc003ksw.1 + 9 2688 c.2482C>T c.(2482-2484)Cct>Tct p.P828S SNCAIP_uc011cwl.1_Missense_Mutation_p.P386S|SNCAIP_uc003ksy.1_Missense_Mutation_p.P462S|SNCAIP_uc003ksx.1_Missense_Mutation_p.P875S|SNCAIP_uc003ksz.1_Missense_Mutation_p.P462S|SNCAIP_uc010jcu.2_Missense_Mutation_p.P424S|SNCAIP_uc011cwm.1_Missense_Mutation_p.P462S|SNCAIP_uc003kta.1_Missense_Mutation_p.P460S|SNCAIP_uc010jcv.1_Non-coding_Transcript|SNCAIP_uc010jcw.1_Missense_Mutation_p.P522S|SNCAIP_uc010jcx.1_Missense_Mutation_p.P768S|BC029465_uc003ktb.1_Intron|SNCAIP_uc003ktc.1_Missense_Mutation_p.P344S NM_005460 NP_005451 Q9Y6H5 SNCAP_HUMAN Homo sapiens synuclein, alpha interacting protein (SNCAIP), transcript variant 1, mRNA. 828 cell death|dopamine metabolic process|regulation of inclusion body assembly|regulation of neurotransmitter secretion cytoplasm|neuronal cell body|nucleolus|presynaptic membrane ubiquitin protein ligase binding NS(3)|breast(2)|endometrium(4)|kidney(1)|large_intestine(5)|lung(9)|ovary(2)|pancreas(1)|prostate(4)|skin(7)|urinary_tract(1) 39 all_cancers(142;0.00787)|Prostate(80;0.0327) KIRC - Kidney renal clear cell carcinoma(527;0.206) OV - Ovarian serous cystadenocarcinoma(64;0.000625)|Epithelial(69;0.00216)|all cancers(49;0.0232) GATGGAGCAGCCTAGCCTTGA 0.493000 47 18 0 0 0.007413 0 0 CDH17 1015 broad.mit.edu 37 8 95186333 95186333 + Missense_Mutation SNP C T T TCGA-D3-A2JA-06A-11D-A196-08 TCGA-D3-A2JA-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx f961ddcc-fb01-4ad1-974e-ccb2656a328e a6cc66c4-23a1-43c8-9989-be2c10aa4f63 g.chr8:95186333C>T uc003ygh.2 - 5 705 c.580G>A c.(580-582)Gag>Aag p.E194K CDH17_uc011lgo.1_Intron|CDH17_uc011lgp.1_Missense_Mutation_p.E194K NM_004063 NP_004054 Q12864 CAD17_HUMAN Homo sapiens cadherin 17, LI cadherin (liver-intestine) (CDH17), transcript variant 1, mRNA. 194 Cadherin 2. integral to membrane calcium ion binding NS(1)|endometrium(5)|kidney(3)|large_intestine(10)|lung(18)|ovary(6)|prostate(3)|skin(4)|stomach(2) 52 Breast(36;4.65e-06) BRCA - Breast invasive adenocarcinoma(8;0.00691) AACTTACCCTCTCGGGTAAGA 0.478000 97 63 0 0 0.003610 0 0 LIMA1 51474 broad.mit.edu 37 12 50642531 50642532 + Missense_Mutation DNP CC TT TT TCGA-D3-A2JA-06A-11D-A196-08 TCGA-D3-A2JA-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx f961ddcc-fb01-4ad1-974e-ccb2656a328e a6cc66c4-23a1-43c8-9989-be2c10aa4f63 g.chr12:50642531_50642532CC>TT uc001rwj.4 - 1 177_178 c.3_4GG>AA c.(1-6)atggaa>atAAaa p.1_2ME>IK LIMA1_uc001rwk.4_Missense_Mutation_p.1_2ME>IK|LIMA1_uc010sms.2_Non-coding_Transcript|LIMA1_uc010smr.2_Non-coding_Transcript NM_016357 NP_001230704 Q9UHB6 LIMA1_HUMAN Homo sapiens LIM domain and actin binding 1 (LIMA1), transcript variant 2, mRNA. 1 actin filament bundle assembly|negative regulation of actin filament depolymerization|ruffle organization cytoplasm|focal adhesion|stress fiber actin filament binding|actin monomer binding|zinc ion binding NS(1)|breast(4)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|lung(17)|ovary(1)|prostate(2)|skin(2) 44 GGAGATGATTCCATCTTGTCTA 0.411000 83 26 0 0 0.004672 0 0 ADIPOR1 51094 broad.mit.edu 37 1 202915610 202915610 + Silent SNP G A A TCGA-D3-A2JA-06A-11D-A196-08 TCGA-D3-A2JA-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx f961ddcc-fb01-4ad1-974e-ccb2656a328e a6cc66c4-23a1-43c8-9989-be2c10aa4f63 g.chr1:202915610G>A uc001gyq.4 - 3 654 c.387C>T c.(385-387)ttC>ttT p.F129F ADIPOR1_uc010pqd.2_Silent_p.F53F|ADIPOR1_uc001gyr.4_Missense_Mutation_p.S18F|ADIPOR1_uc001gys.4_Silent_p.F129F NM_015999 NP_057083 Q96A54 ADR1_HUMAN Homo sapiens adiponectin receptor 1 (ADIPOR1), transcript variant 1, mRNA. 129 fatty acid oxidation|hormone-mediated signaling pathway integral to membrane|plasma membrane hormone binding|protein kinase binding|receptor activity breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(2)|lung(7)|prostate(2)|skin(1) 16 BRCA - Breast invasive adenocarcinoma(75;0.141) TATGAATGCGGAAGATGCTCT 0.493000 84 19 0 0 0.007413 0 0 SAP130 79595 broad.mit.edu 37 2 128747140 128747140 + Missense_Mutation SNP G A A TCGA-D3-A2JA-06A-11D-A196-08 TCGA-D3-A2JA-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx f961ddcc-fb01-4ad1-974e-ccb2656a328e a6cc66c4-23a1-43c8-9989-be2c10aa4f63 g.chr2:128747140G>A uc010fmd.2 - 12 1988 c.1856C>T c.(1855-1857)tCa>tTa p.S619L SAP130_uc002tpn.2_Missense_Mutation_p.S380L|SAP130_uc002tpp.2_Missense_Mutation_p.S619L|SAP130_uc002tpq.1_Missense_Mutation_p.S592L NM_001145928 NP_001139400 Q9H0E3 SP130_HUMAN Homo sapiens Sin3A-associated protein, 130kDa (SAP130), transcript variant 1, mRNA. 619 histone H3 acetylation|regulation of transcription, DNA-dependent|transcription, DNA-dependent STAGA complex transcription coactivator activity NS(4)|breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(11)|lung(10)|ovary(2)|prostate(1)|skin(5)|urinary_tract(2) 45 Colorectal(110;0.1) BRCA - Breast invasive adenocarcinoma(221;0.0771) AAAATTACCTGAAGTCTTTCC 0.433000 67 100 0 0 0.003610 0 0 PTPRK 5796 broad.mit.edu 37 6 128294823 128294823 + Silent SNP C T T rs138416879 TCGA-D3-A2JA-06A-11D-A196-08 TCGA-D3-A2JA-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx f961ddcc-fb01-4ad1-974e-ccb2656a328e a6cc66c4-23a1-43c8-9989-be2c10aa4f63 g.chr6:128294823C>T uc003qbk.3 - 27 4483 c.4116G>A c.(4114-4116)acG>acA p.T1372T PTPRK_uc010kfc.3_Silent_p.T1379T|PTPRK_uc003qbj.3_Silent_p.T1373T|PTPRK_uc011ebu.2_Silent_p.T1395T NM_002844 NP_002835 Q15262 PTPRK_HUMAN Homo sapiens protein tyrosine phosphatase, receptor type, K (PTPRK), transcript variant 2, mRNA. 1372 Tyrosine-protein phosphatase 2. cell migration|cellular response to UV|cellular response to reactive oxygen species|focal adhesion assembly|negative regulation of cell cycle|negative regulation of cell migration|negative regulation of keratinocyte proliferation|negative regulation of transcription, DNA-dependent|protein localization at cell surface|transforming growth factor beta receptor signaling pathway adherens junction|cell surface|cell-cell junction|integral to plasma membrane|leading edge membrane beta-catenin binding|gamma-catenin binding|protein kinase binding|transmembrane receptor protein tyrosine phosphatase activity PTPRK/RSPO3(10) autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(14)|lung(24)|ovary(3)|pancreas(1)|skin(6)|upper_aerodigestive_tract(3)|urinary_tract(1) 72 all cancers(137;0.0118)|GBM - Glioblastoma multiforme(226;0.0372)|OV - Ovarian serous cystadenocarcinoma(136;0.24) AGTGGATAATCGTCCGGCCTT 0.483000 56 45 0 0 0.003610 0 0 PITHD1 57095 broad.mit.edu 37 1 24106421 24106421 + Missense_Mutation SNP G A A TCGA-D3-A2JA-06A-11D-A196-08 TCGA-D3-A2JA-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx f961ddcc-fb01-4ad1-974e-ccb2656a328e a6cc66c4-23a1-43c8-9989-be2c10aa4f63 g.chr1:24106421G>A uc001bhq.3 + 2 440 c.310G>A c.(310-312)Gag>Aag p.E104K LOC100506963_uc001bhp.2_5'Flank|PITHD1_uc010oeb.2_Missense_Mutation_p.E11K NM_020362 NP_065095 Q9GZP4 PITH1_HUMAN Homo sapiens PITH (C-terminal proteasome-interacting domain of thioredoxin-like) domain containing 1 (PITHD1), mRNA. 104 PITH. haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(3) 6 ACACCCCTCTGAGATGAGACT 0.413000 51 44 0 0 0.003610 0 0 MCM7 4176 broad.mit.edu 37 7 99693042 99693042 + Silent SNP G A A TCGA-D3-A2JA-06A-11D-A196-08 TCGA-D3-A2JA-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx f961ddcc-fb01-4ad1-974e-ccb2656a328e a6cc66c4-23a1-43c8-9989-be2c10aa4f63 g.chr7:99693042G>A uc003usw.1 - 11 2157 c.1647C>T c.(1645-1647)tcC>tcT p.S549S MCM7_uc003usv.1_Silent_p.S373S|MCM7_uc003usx.1_Silent_p.S373S|MIR25_uc003usy.1_5'Flank|MIR93_uc003usz.1_5'Flank|MIR106B_uc003uta.1_5'Flank NM_005916 NP_005907 P33993 MCM7_HUMAN Homo sapiens minichromosome maintenance complex component 7 (MCM7), transcript variant 1, mRNA. 549 Interaction with RAD17. DNA strand elongation involved in DNA replication|DNA-dependent DNA replication initiation|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 phosphorylation|response to DNA damage stimulus MCM complex|chromatin ATP binding|protein binding endometrium(1)|kidney(5)|large_intestine(5)|lung(4)|ovary(1)|stomach(1) 17 Lung NSC(181;0.0181)|all_lung(186;0.0284)|Esophageal squamous(72;0.0439) Atorvastatin(DB01076) GTTCAAACTGGGAGGGGGGCT 0.587000 24 18 0 0 0.008871 0 0 RYR1 6261 broad.mit.edu 37 19 38969090 38969090 + Silent SNP C T T TCGA-D3-A2JA-06A-11D-A196-08 TCGA-D3-A2JA-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx f961ddcc-fb01-4ad1-974e-ccb2656a328e a6cc66c4-23a1-43c8-9989-be2c10aa4f63 g.chr19:38969090C>T uc002oit.3 + 30 4600 c.4470C>T c.(4468-4470)aaC>aaT p.N1490N RYR1_uc002oiu.3_Silent_p.N1490N NM_000540 NP_000531 P21817 RYR1_HUMAN Homo sapiens ryanodine receptor 1 (skeletal) (RYR1), transcript variant 1, mRNA. 1490 6 X approximate repeats.|B30.2/SPRY 3. 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) AGTGTAGCAACTGCTACATGG 0.607000 26 23 0 0 0.005443 0 0 DZIP3 9666 broad.mit.edu 37 3 108363192 108363192 + Silent SNP C T T rs149165938 TCGA-D3-A2JA-06A-11D-A196-08 TCGA-D3-A2JA-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx f961ddcc-fb01-4ad1-974e-ccb2656a328e a6cc66c4-23a1-43c8-9989-be2c10aa4f63 g.chr3:108363192C>T uc003dxd.3 + 13 1745 c.1323C>T c.(1321-1323)acC>acT p.T441T DZIP3_uc003dxf.1_Silent_p.T441T|DZIP3_uc011bhm.2_Intron|DZIP3_uc003dxe.1_Silent_p.T441T|DZIP3_uc003dxg.1_Silent_p.T164T NM_014648 NP_055463 Q86Y13 DZIP3_HUMAN Homo sapiens DAZ interacting protein 3, zinc finger (DZIP3), mRNA. 441 protein polyubiquitination cytoplasm RNA binding|polyubiquitin binding|ubiquitin-protein ligase activity|zinc ion binding breast(3)|central_nervous_system(1)|endometrium(3)|large_intestine(9)|lung(21)|ovary(1)|pancreas(1)|prostate(5)|skin(1) 45 ATCTTTGGACCAATCATCCTT 0.408000 48 37 0 0 0.004878 0 0 ADAMTS19 171019 broad.mit.edu 37 5 128864234 128864234 + Missense_Mutation SNP C T T TCGA-D3-A2JA-06A-11D-A196-08 TCGA-D3-A2JA-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx f961ddcc-fb01-4ad1-974e-ccb2656a328e a6cc66c4-23a1-43c8-9989-be2c10aa4f63 g.chr5:128864234C>T uc003kvb.1 + 5 1174 c.1174C>T c.(1174-1176)Cat>Tat p.H392Y ADAMTS19_uc003kvc.1_Non-coding_Transcript NM_133638 NP_598377 Q8TE59 ATS19_HUMAN Homo sapiens ADAM metallopeptidase with thrombospondin type 1 motif, 19 (ADAMTS19), mRNA. 392 Peptidase M12B. proteolysis proteinaceous extracellular matrix metalloendopeptidase activity|zinc ion binding NS(1)|breast(4)|endometrium(10)|kidney(9)|large_intestine(14)|lung(34)|ovary(6)|pancreas(1)|prostate(6)|skin(6) 91 all_cancers(142;0.0148)|Prostate(80;0.0494)|Breast(839;0.238) KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365) OV - Ovarian serous cystadenocarcinoma(64;0.222) TATTGGGCATCATGGAGAAAA 0.343000 27 13 0 0 0.003163 0 0 C5orf48 389320 broad.mit.edu 37 5 125971803 125971803 + Missense_Mutation SNP G A A TCGA-D3-A2JA-06A-11D-A196-08 TCGA-D3-A2JA-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx f961ddcc-fb01-4ad1-974e-ccb2656a328e a6cc66c4-23a1-43c8-9989-be2c10aa4f63 g.chr5:125971803G>A uc003kub.1 + 2 288 c.275G>A c.(274-276)gGg>gAg p.G92E NM_207408 NP_997291 Q6ZNM6 CE048_HUMAN Homo sapiens chromosome 5 open reading frame 48 (C5orf48), mRNA. 92 large_intestine(1)|lung(1)|ovary(1)|prostate(1)|skin(2)|urinary_tract(1) 7 CTTTGCCATGGGGAAGATCGT 0.423000 93 26 0 0 0.005443 0 0 GJB4 127534 broad.mit.edu 37 1 35227190 35227190 + Missense_Mutation SNP A T T TCGA-D3-A2JA-06A-11D-A196-08 TCGA-D3-A2JA-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx f961ddcc-fb01-4ad1-974e-ccb2656a328e a6cc66c4-23a1-43c8-9989-be2c10aa4f63 g.chr1:35227190A>T uc001bxw.4 + 0 335 c.335A>T c.(334-336)aAt>aTt p.N112I GJB4_uc001bxv.1_Missense_Mutation_p.N112I NM_153212 NP_694944 Q9NTQ9 CXB4_HUMAN Homo sapiens gap junction protein, beta 4, 30.3kDa (GJB4), mRNA. 112 cell communication connexon complex|integral to membrane gap junction channel activity breast(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(1)|lung(6)|ovary(2)|skin(1) 16 Myeloproliferative disorder(586;0.0255)|all_neural(195;0.234) CACGGGCCCAATGCCCCGTCC 0.627000 56 19 0 0 0.007413 0 0 ABCA10 10349 broad.mit.edu 37 17 67146127 67146127 + Missense_Mutation SNP G A A TCGA-D3-A2JA-06A-11D-A196-08 TCGA-D3-A2JA-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx f961ddcc-fb01-4ad1-974e-ccb2656a328e a6cc66c4-23a1-43c8-9989-be2c10aa4f63 g.chr17:67146127G>A uc010dfa.1 - 37 5354 c.4475C>T c.(4474-4476)gCg>gTg p.A1492V ABCA10_uc002jhz.3_Intron|ABCA10_uc010wqs.1_Missense_Mutation_p.A484V|ABCA10_uc010wqt.1_Non-coding_Transcript NM_080282 NP_525021 Q8WWZ4 ABCAA_HUMAN Homo sapiens ATP-binding cassette, sub-family A (ABC1), member 10 (ABCA10), mRNA. 1492 transport integral to membrane ATP binding|ATPase activity breast(2)|central_nervous_system(1)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(20)|lung(34)|ovary(2)|prostate(1)|skin(2)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(4) 81 Breast(10;6.95e-12) AAACTTACTCGCCTCTAACTT 0.353000 35 5 0 0 0.000602 0 0 SMG9 56006 broad.mit.edu 37 19 44242349 44242349 + Silent SNP G A A TCGA-D3-A2JA-06A-11D-A196-08 TCGA-D3-A2JA-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx f961ddcc-fb01-4ad1-974e-ccb2656a328e a6cc66c4-23a1-43c8-9989-be2c10aa4f63 g.chr19:44242349G>A uc002oxj.2 - 7 1177 c.834C>T c.(832-834)atC>atT p.I278I SMG9_uc002oxk.2_Silent_p.I278I|SMG9_uc010eiy.1_Silent_p.I278I NM_019108 NP_061981 Q9H0W8 SMG9_HUMAN Homo sapiens smg-9 homolog, nonsense mediated mRNA decay factor (C. elegans) (SMG9), mRNA. 278 nuclear-transcribed mRNA catabolic process, nonsense-mediated decay intracellular protein binding kidney(1)|large_intestine(5)|liver(1)|lung(7)|pancreas(1)|prostate(2)|urinary_tract(2) 19 GATGGTCTAGGATAGAAGGGC 0.507000 67 29 0 0 0.007291 0 0 FNDC4 64838 broad.mit.edu 37 2 27715590 27715590 + Silent SNP C T T TCGA-D3-A2JA-06A-11D-A196-08 TCGA-D3-A2JA-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx f961ddcc-fb01-4ad1-974e-ccb2656a328e a6cc66c4-23a1-43c8-9989-be2c10aa4f63 g.chr2:27715590C>T uc002rkx.3 - 5 1018 c.612G>A c.(610-612)aaG>aaA p.K204K NM_022823 NP_073734 Q9H6D8 FNDC4_HUMAN Homo sapiens fibronectin type III domain containing 4 (FNDC4), mRNA. 204 integral to membrane NS(1)|endometrium(2)|kidney(1)|large_intestine(1)|liver(2)|prostate(1)|skin(1) 9 Acute lymphoblastic leukemia(172;0.155) TTCCCTTCTCCTTGGGATTGT 0.542000 65 43 0 0 0.002852 0 0 DNAJC13 23317 broad.mit.edu 37 3 132247127 132247127 + Missense_Mutation SNP T C C TCGA-D3-A2JA-06A-11D-A196-08 TCGA-D3-A2JA-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx f961ddcc-fb01-4ad1-974e-ccb2656a328e a6cc66c4-23a1-43c8-9989-be2c10aa4f63 g.chr3:132247127T>C uc003eor.3 + 53 6541 c.6476T>C c.(6475-6477)aTt>aCt p.I2159T NM_015268 NP_056083 O75165 DJC13_HUMAN Homo sapiens DnaJ (Hsp40) homolog, subfamily C, member 13 (DNAJC13), mRNA. 2159 heat shock protein binding breast(4)|endometrium(2)|kidney(2)|large_intestine(5)|lung(15)|ovary(1)|pancreas(2)|prostate(2)|urinary_tract(1) 34 AAGGCTCAGATTGTTAAAGCT 0.453000 49 34 0 0 0.002836 0 0 KRT2 3849 broad.mit.edu 37 12 53042059 53042059 + Silent SNP G A A TCGA-D3-A2JA-06A-11D-A196-08 TCGA-D3-A2JA-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx f961ddcc-fb01-4ad1-974e-ccb2656a328e a6cc66c4-23a1-43c8-9989-be2c10aa4f63 g.chr12:53042059G>A uc001sat.3 - 4 1053 c.1020C>T c.(1018-1020)agC>agT p.S340S NM_000423 NP_000414 P35908 K22E_HUMAN Homo sapiens keratin 2 (KRT2), mRNA. 340 Linker 12.|Rod. keratinization|keratinocyte activation|keratinocyte migration|keratinocyte proliferation Golgi apparatus|keratin filament protein binding|structural constituent of cytoskeleton endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(2)|lung(18)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1) 32 BRCA - Breast invasive adenocarcinoma(357;0.19) CCAGGTTGCGGCTGTTGTCCA 0.547000 117 33 0 0 0.002836 0 0 RECK 8434 broad.mit.edu 37 9 36105242 36105242 + Missense_Mutation SNP C T T TCGA-D3-A2JA-06A-11D-A196-08 TCGA-D3-A2JA-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx f961ddcc-fb01-4ad1-974e-ccb2656a328e a6cc66c4-23a1-43c8-9989-be2c10aa4f63 g.chr9:36105242C>T uc003zyv.3 + 12 1624 c.1538C>T c.(1537-1539)cCa>cTa p.P513L RECK_uc003zyw.3_Missense_Mutation_p.P385L|RECK_uc003zyx.3_Non-coding_Transcript NM_021111 NP_066934 O95980 RECK_HUMAN Homo sapiens reversion-inducing-cysteine-rich protein with kazal motifs (RECK), mRNA. 513 anchored to membrane|peripheral to membrane of membrane fraction|plasma membrane metalloendopeptidase inhibitor activity|serine-type endopeptidase inhibitor activity cervix(1)|endometrium(7)|kidney(3)|large_intestine(6)|lung(10)|ovary(1)|pancreas(1)|skin(2)|stomach(1) 32 LUSC - Lung squamous cell carcinoma(32;0.112)|STAD - Stomach adenocarcinoma(86;0.228) AAAGGATGTCCATCTGGAGAT 0.448000 55 37 0 0 0.008740 0 0 ZDHHC2 51201 broad.mit.edu 37 8 17063206 17063206 + Silent SNP C A A TCGA-D3-A2JA-06A-11D-A196-08 TCGA-D3-A2JA-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx f961ddcc-fb01-4ad1-974e-ccb2656a328e a6cc66c4-23a1-43c8-9989-be2c10aa4f63 g.chr8:17063206C>A uc003wxe.3 + 6 916 c.519C>A c.(517-519)ctC>ctA p.L173L NM_016353 NP_057437 Q9UIJ5 ZDHC2_HUMAN Homo sapiens zinc finger, DHHC-type containing 2 (ZDHHC2), mRNA. 173 integral to membrane acyltransferase activity|zinc ion binding endometrium(1)|kidney(1)|large_intestine(3)|lung(1)|pancreas(1)|stomach(1) 8 Colorectal(111;0.0697)|COAD - Colon adenocarcinoma(73;0.244) AGTTCTTTCTCCTTTTCTTGG 0.328000 65 41 2.19358e-23 2.5342e-23 0.005524 1 0 FRZB 2487 broad.mit.edu 37 2 183707234 183707234 + Silent SNP C T T TCGA-D3-A2JA-06A-11D-A196-08 TCGA-D3-A2JA-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx f961ddcc-fb01-4ad1-974e-ccb2656a328e a6cc66c4-23a1-43c8-9989-be2c10aa4f63 g.chr2:183707234C>T uc002upa.2 - 2 782 c.564G>A c.(562-564)aaG>aaA p.K188K NM_001463 NP_001454 Q92765 SFRP3_HUMAN Homo sapiens frizzled-related protein (FRZB), mRNA. 188 NTR. Wnt receptor signaling pathway|brain development|cochlea morphogenesis|gonad development|mammary gland involution|negative regulation of canonical Wnt receptor signaling pathway|negative regulation of cartilage development|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of hepatocyte differentiation|positive regulation of apoptosis|positive regulation of fat cell differentiation|skeletal system development|vasculature development cytoplasm|extracellular space|membrane PDZ domain binding|Wnt receptor activity|Wnt-protein binding central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(12)|ovary(2)|prostate(1)|skin(1) 21 OV - Ovarian serous cystadenocarcinoma(117;0.109)|Epithelial(96;0.231) GGAAATAGGTCTTCTGTGTAG 0.358000 71 34 0 0 0.003271 0 0 CHST8 64377 broad.mit.edu 37 19 34263781 34263781 + Missense_Mutation SNP G A A TCGA-D3-A2JA-06A-11D-A196-08 TCGA-D3-A2JA-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx f961ddcc-fb01-4ad1-974e-ccb2656a328e a6cc66c4-23a1-43c8-9989-be2c10aa4f63 g.chr19:34263781G>A uc002nus.4 + 4 1593 c.1088G>A c.(1087-1089)cGc>cAc p.R363H CHST8_uc002nut.4_Missense_Mutation_p.R363H|CHST8_uc002nuu.3_Missense_Mutation_p.R363H NM_001127895 NP_071912 Q9H2A9 CHST8_HUMAN Homo sapiens carbohydrate (N-acetylgalactosamine 4-0) sulfotransferase 8 (CHST8), transcript variant 2, mRNA. 363 carbohydrate biosynthetic process|central nervous system development|hormone biosynthetic process|proteoglycan biosynthetic process|sulfur compound metabolic process Golgi membrane|integral to membrane N-acetylgalactosamine 4-O-sulfotransferase activity NS(1)|endometrium(3)|kidney(2)|large_intestine(4)|liver(2)|lung(8)|ovary(1)|prostate(1)|skin(5) 27 Esophageal squamous(110;0.162) AGCCTCATCCGCGCGCCGCGG 0.632000 35 10 0 0 0.008291 0 0 PLCE1 51196 broad.mit.edu 37 10 95791914 95791914 + Missense_Mutation SNP C T T TCGA-D3-A2JA-06A-11D-A196-08 TCGA-D3-A2JA-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx f961ddcc-fb01-4ad1-974e-ccb2656a328e a6cc66c4-23a1-43c8-9989-be2c10aa4f63 g.chr10:95791914C>T uc001kjk.3 + 1 1745 c.1111C>T c.(1111-1113)Ccc>Tcc p.P371S PLCE1_uc010qnx.2_Missense_Mutation_p.P371S NM_016341 NP_057425 Q9P212 PLCE1_HUMAN Homo sapiens phospholipase C, epsilon 1 (PLCE1), transcript variant 1, mRNA. 371 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) GAGAAATGGTCCCTTACTGCC 0.488000 30 10 0 0 0.008291 0 0 MMP13 4322 broad.mit.edu 37 11 102826002 102826002 + Missense_Mutation SNP G T T TCGA-D3-A2JA-06A-11D-A196-08 TCGA-D3-A2JA-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx f961ddcc-fb01-4ad1-974e-ccb2656a328e a6cc66c4-23a1-43c8-9989-be2c10aa4f63 g.chr11:102826002G>T uc001phl.3 - 1 370 c.341C>A c.(340-342)tCc>tAc p.S114Y NM_002427 NP_002418 P45452 MMP13_HUMAN Homo sapiens matrix metallopeptidase 13 (collagenase 3) (MMP13), mRNA. 114 collagen catabolic process|proteolysis extracellular space metalloendopeptidase activity|zinc ion binding NS(1)|breast(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(15)|ovary(2)|skin(1)|stomach(1) 27 all_hematologic(158;0.00092)|Acute lymphoblastic leukemia(157;0.000967) BRCA - Breast invasive adenocarcinoma(274;0.0144) ATTCATTTTGGACCATTTAAG 0.358000 50 19 2.94398e-08 3.35254e-08 0.007413 1 0 ABCC8 6833 broad.mit.edu 37 11 17496474 17496474 + Silent SNP G A A TCGA-D3-A2JA-06A-11D-A196-08 TCGA-D3-A2JA-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx f961ddcc-fb01-4ad1-974e-ccb2656a328e a6cc66c4-23a1-43c8-9989-be2c10aa4f63 g.chr11:17496474G>A uc001mnc.3 - 1 375 c.249C>T c.(247-249)ttC>ttT p.F83F ABCC8_uc010rcy.1_Silent_p.F83F|ABCC8_uc021qej.1_Intron NM_000352 NP_000343 Q09428 ABCC8_HUMAN Homo sapiens ATP-binding cassette, sub-family C (CFTR/MRP), member 8 (ABCC8), mRNA. 83 carbohydrate metabolic process|energy reserve metabolic process integral to membrane ATP binding|ATPase activity, coupled to transmembrane movement of substances|potassium ion transmembrane transporter activity|sulfonylurea receptor activity NS(1)|breast(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(14)|lung(38)|ovary(1)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1) 67 READ - Rectum adenocarcinoma(2;0.0325)|Colorectal(2;0.1) Adenosine triphosphate(DB00171)|Glibenclamide(DB01016)|Gliclazide(DB01120)|Mitiglinide(DB01252)|Nateglinide(DB00731)|Repaglinide(DB00912) ACACCAGGACGAAGAGCAGCA 0.547000 270 257 0 0 0.003610 0 0 WBP1 23559 broad.mit.edu 37 2 74687550 74687550 + Frame_Shift_Del DEL T - - rs8469 byFrequency TCGA-D3-A2JA-06A-11D-A196-08 TCGA-D3-A2JA-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx f961ddcc-fb01-4ad1-974e-ccb2656a328e a6cc66c4-23a1-43c8-9989-be2c10aa4f63 g.chr2:74687550delT uc002slj.2 + 3 755 c.552delT c.(550-552)cctfs p.P184fs INO80B_uc002sli.2_Non-coding_Transcript|WBP1_uc002sll.2_Non-coding_Transcript NM_012477 NP_036609 Q96G27 WBP1_HUMAN Homo sapiens WW domain binding protein 1 (WBP1), mRNA. 184 WW domain binding endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(1)|ovary(1)|urinary_tract(1) 8 GTGCCCCCCCTCATCAGGAGG 0.612 --- 170 --- --- 7 --- ARMC8 25852 broad.mit.edu 37 3 137964016 137964016 + Frame_Shift_Del DEL C - - TCGA-D3-A2JA-06A-11D-A196-08 TCGA-D3-A2JA-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx f961ddcc-fb01-4ad1-974e-ccb2656a328e a6cc66c4-23a1-43c8-9989-be2c10aa4f63 g.chr3:137964016delC uc003esa.1 + 12 1450 c.1083delC c.(1081-1083)atcfs p.I361fs ARMC8_uc003erw.3_Frame_Shift_Del_p.I361fs|ARMC8_uc003erx.3_Frame_Shift_Del_p.I361fs|ARMC8_uc003ery.3_Frame_Shift_Del_p.I333fs|ARMC8_uc011bmf.1_Frame_Shift_Del_p.I344fs|ARMC8_uc011bmg.1_Frame_Shift_Del_p.I308fs|ARMC8_uc011bmh.1_Frame_Shift_Del_p.I302fs|ARMC8_uc003esb.1_Frame_Shift_Del_p.I333fs|ARMC8_uc003esc.1_Frame_Shift_Del_p.I133fs NM_015396 NP_056211 Q8IUR7 ARMC8_HUMAN Homo sapiens armadillo repeat containing 8 (ARMC8), transcript variant 2, mRNA. 375 binding endometrium(2)|kidney(1)|large_intestine(7)|lung(5)|upper_aerodigestive_tract(1) 16 ATGAAGACATCCGGAAGAAGG 0.517 --- 394 --- --- 169 --- UPF2 26019 broad.mit.edu 37 10 11990430 11990432 + In_Frame_Del DEL CTT - - TCGA-D3-A2JA-06A-11D-A196-08 TCGA-D3-A2JA-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx f961ddcc-fb01-4ad1-974e-ccb2656a328e a6cc66c4-23a1-43c8-9989-be2c10aa4f63 g.chr10:11990430_11990432delCTT uc001ila.3 - 14 3584_3586 c.3110_3112delAAG c.(3109-3114)gaaggt>ggt p.E1037del UPF2_uc001ilb.3_In_Frame_Del_p.E1037del|UPF2_uc001ilc.3_In_Frame_Del_p.E1037del NM_080599 NP_542166 Q9HAU5 RENT2_HUMAN Homo sapiens UPF2 regulator of nonsense transcripts homolog (yeast) (UPF2), transcript variant 1, mRNA. 1037 Glu-rich.|Sufficient for interaction with EIF4A1 and EIF1. mRNA export from nucleus|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay exon-exon junction complex|perinuclear region of cytoplasm RNA binding|identical protein binding breast(3)|central_nervous_system(3)|cervix(1)|endometrium(5)|kidney(6)|large_intestine(14)|lung(17)|ovary(2)|skin(3)|urinary_tract(2) 56 Renal(717;0.228) tcagccccaccttcttcttcttc 0.374 --- 604 --- --- 10 --- CDKL1 8814 broad.mit.edu 37 14 50824772 50824772 + Frame_Shift_Del DEL G - - TCGA-D3-A2JA-06A-11D-A196-08 TCGA-D3-A2JA-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx f961ddcc-fb01-4ad1-974e-ccb2656a328e a6cc66c4-23a1-43c8-9989-be2c10aa4f63 g.chr14:50824772delG uc010anu.2 - 14 2196 c.2196delC c.(2194-2196)cccfs p.P732fs CDKL1_uc001wxz.3_Intron NM_004196 NP_004187 Q00532 CDKL1_HUMAN Homo sapiens cyclin-dependent kinase-like 1 (CDC2-related kinase) (CDKL1), mRNA. 0 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) ACTTCAGGAAGGGACCCCCTC 0.532 --- 25 --- --- 7 --- ZNF155 7711 broad.mit.edu 37 19 44500692 44500711 + Frame_Shift_Del DEL GAGAGAAACCATTCAAATGT - - rs143866640 byFrequency TCGA-D3-A2JA-06A-11D-A196-08 TCGA-D3-A2JA-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx f961ddcc-fb01-4ad1-974e-ccb2656a328e a6cc66c4-23a1-43c8-9989-be2c10aa4f63 g.chr19:44500692_44500711delGAGAGAAACCATTCAAATGT uc010xwt.1 + 5 900_919 c.716_735delGAGAGAAACCATTCAAATGT c.(715-735)ggagagaaaccattcaaatgtfs p.G239fs ZNF155_uc002oxy.1_Frame_Shift_Del_p.G228fs|ZNF155_uc002oxz.1_Frame_Shift_Del_p.G228fs NM_198089 NP_932355 Q12901 ZN155_HUMAN Homo sapiens zinc finger protein 155 (ZNF155), transcript variant 2, mRNA. 228 nucleus DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding p.F241L(1) endometrium(3)|kidney(2)|large_intestine(1)|lung(6)|ovary(1)|upper_aerodigestive_tract(2) 15 Prostate(69;0.0352) GTCCACACTGGAGAGAAACCATTCAAATGTGAGCAATGTG 0.436 --- 98 --- --- 26 --- ERAS 3266 broad.mit.edu 37 X 48688189 48688189 + Frame_Shift_Del DEL C - - TCGA-D3-A2JA-06A-11D-A196-08 TCGA-D3-A2JA-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx f961ddcc-fb01-4ad1-974e-ccb2656a328e a6cc66c4-23a1-43c8-9989-be2c10aa4f63 g.chrX:48688189delC uc004dky.1 + 0 907 c.656delC c.(655-657)accfs p.T219fs NM_181532 NP_853510 Q7Z444 RASE_HUMAN Homo sapiens ES cell expressed Ras (ERAS), mRNA. 219 small GTPase mediated signal transduction intracellular|plasma membrane GTP binding|GTPase activity endometrium(2)|large_intestine(1)|lung(9)|prostate(1)|urinary_tract(1) 14 AGGGAGAAGACCCGGCACCAG 0.592 --- 4 --- --- 2 ---