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 MYO15A 51168 broad.mit.edu 37 17 18023310 18023310 + Missense_Mutation SNP A G G TCGA-BF-A1PZ-01A-11D-A19A-08 TCGA-BF-A1PZ-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6ef799ed-a9fa-4328-95d3-265699e16339 a8458b1d-3040-455b-ae7a-b1ac22b9f2b6 g.chr17:18023310A>G uc021trm.1 + 0 1415 c.1196A>G c.(1195-1197)tAt>tGt p.Y399C MYO15A_uc021trl.1_Missense_Mutation_p.Y399C NM_016239 NP_057323 Q9UKN7 MYO15_HUMAN Homo sapiens myosin XVA (MYO15A), mRNA. 399 Myosin head-like. sensory perception of sound cytoplasm|myosin complex|stereocilium ATP binding|actin binding|calmodulin binding|motor activity breast(5)|central_nervous_system(2)|endometrium(17)|kidney(3)|large_intestine(16)|lung(27)|ovary(3)|pancreas(1)|prostate(6)|skin(13)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(2) 99 all_neural(463;0.228) GAGGTGCCCTATTTTTACCCG 0.622000 28 10 0 0 0.000151284 0 0 CHD7 55636 broad.mit.edu 37 8 61765709 61765709 + Missense_Mutation SNP C T T TCGA-BF-A1PZ-01A-11D-A19A-08 TCGA-BF-A1PZ-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6ef799ed-a9fa-4328-95d3-265699e16339 a8458b1d-3040-455b-ae7a-b1ac22b9f2b6 g.chr8:61765709C>T uc003xue.3 + 30 6917 c.6425C>T c.(6424-6426)tCc>tTc p.S2142F CHD7_uc022aux.1_Intron NM_017780 NP_060250 Q9P2D1 CHD7_HUMAN Homo sapiens chromodomain helicase DNA binding protein 7 (CHD7), mRNA. 2142 T cell differentiation|central nervous system development|chromatin modification|cognition|cranial nerve development|face development|heart morphogenesis|in utero embryonic development|inner ear morphogenesis|nose development|palate development|regulation of growth hormone secretion|regulation of transcription, DNA-dependent|retina development in camera-type eye|skeletal system development|transcription, DNA-dependent nucleus ATP binding|DNA binding|chromatin binding|helicase activity NS(1)|breast(6)|central_nervous_system(8)|cervix(2)|endometrium(16)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(16)|lung(49)|ovary(4)|pancreas(2)|prostate(4)|skin(2)|urinary_tract(3) 123 all_cancers(86;0.2)|all_lung(136;0.0402)|Lung NSC(129;0.0459)|all_epithelial(80;0.0477) BRCA - Breast invasive adenocarcinoma(89;0.143) AATACATCTTCCTTGAACCCA 0.463000 2 28 0 0 0.000279167 0 0 MAP3K5 4217 broad.mit.edu 37 6 136944008 136944008 + Missense_Mutation SNP C T T TCGA-BF-A1PZ-01A-11D-A19A-08 TCGA-BF-A1PZ-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6ef799ed-a9fa-4328-95d3-265699e16339 a8458b1d-3040-455b-ae7a-b1ac22b9f2b6 g.chr6:136944008C>T uc003qhc.3 - 14 2489 c.2128G>A c.(2128-2130)Gaa>Aaa p.E710K MAP3K5_uc011edj.2_Intron|MAP3K5_uc011edk.1_Missense_Mutation_p.E555K NM_005923 NP_005914 Q99683 M3K5_HUMAN Homo sapiens mitogen-activated protein kinase kinase kinase 5 (MAP3K5), mRNA. 710 Protein kinase. activation of JUN kinase activity|activation of MAPKK activity|cellular response to hydrogen peroxide|induction of apoptosis by extracellular signals|interspecies interaction between organisms ATP binding|MAP kinase kinase kinase activity|caspase activator activity|magnesium ion binding|protein homodimerization activity|protein phosphatase binding NS(1)|breast(1)|cervix(1)|endometrium(8)|kidney(6)|large_intestine(6)|lung(24)|ovary(2)|prostate(1)|skin(4)|urinary_tract(4) 58 Colorectal(23;0.24) GBM - Glioblastoma multiforme(68;0.00137)|OV - Ovarian serous cystadenocarcinoma(155;0.00569) TCTGGGATTTCCTTAATAGCA 0.393000 26 89 0 0 0.000147903 0 0 DNAJB12 54788 broad.mit.edu 37 10 74104769 74104769 + Missense_Mutation SNP C A A rs141686379 by1000genomes TCGA-BF-A1PZ-01A-11D-A19A-08 TCGA-BF-A1PZ-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6ef799ed-a9fa-4328-95d3-265699e16339 a8458b1d-3040-455b-ae7a-b1ac22b9f2b6 g.chr10:74104769C>A uc001jsz.2 - 1 502 c.352G>T c.(352-354)Ggt>Tgt p.G118C DNAJB12_uc001jta.2_Missense_Mutation_p.G118C|DNAJB12_uc010qjv.1_Missense_Mutation_p.G118C NM_017626 NP_060096 Q9NXW2 DJB12_HUMAN Homo sapiens DnaJ (Hsp40) homolog, subfamily B, member 12 (DNAJB12), transcript variant 2, mRNA. 84 J. protein folding endoplasmic reticulum|integral to membrane heat shock protein binding|unfolded protein binding endometrium(1)|large_intestine(2)|skin(1) 4 CCAGCTTCACCGTTGGCCGAG 0.612000 144 8 0.000442599 0.00721301 0.000442599 1 0 S100A13 6284 broad.mit.edu 37 1 153598826 153598826 + Silent SNP C A A TCGA-BF-A1PZ-01A-11D-A19A-08 TCGA-BF-A1PZ-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6ef799ed-a9fa-4328-95d3-265699e16339 a8458b1d-3040-455b-ae7a-b1ac22b9f2b6 g.chr1:153598826C>A uc001fcf.4 - 1 297 c.123G>T c.(121-123)ctG>ctT p.L41L S100A13_uc001fcg.3_Silent_p.L41L|S100A13_uc009woh.3_Silent_p.L41L|S100A13_uc001fch.3_Silent_p.L41L|S100A13_uc001fci.3_Silent_p.L41L|S100A13_uc001fcj.3_Silent_p.L41L|S100A1_uc001fck.1_5'Flank|S100A1_uc001fcl.1_5'Flank NM_001024213 NP_005970 Q99584 S10AD_HUMAN Homo sapiens S100 calcium binding protein A13 (S100A13), transcript variant 5, mRNA. 41 EF-hand 1. interleukin-1 alpha secretion|mast cell degranulation|positive regulation of I-kappaB kinase/NF-kappaB cascade cytosol|extracellular space|nucleus|perinuclear region of cytoplasm RAGE receptor binding|calcium ion binding|copper ion binding|fibroblast growth factor 1 binding|lipid binding|protein homodimerization activity|zinc ion binding breast(1)|endometrium(1)|large_intestine(1)|lung(4) 7 all_lung(78;1.84e-32)|Lung NSC(65;6.67e-31)|Hepatocellular(266;0.0877)|Melanoma(130;0.199) LUSC - Lung squamous cell carcinoma(543;0.171) Amlexanox(DB01025) GCTGGGTAACCAGCTCTTTGA 0.522000 279 10 3.86212e-05 0.000655097 3.86212e-05 1 0 DCHS1 8642 broad.mit.edu 37 11 6643302 6643302 + Missense_Mutation SNP G A A TCGA-BF-A1PZ-01A-11D-A19A-08 TCGA-BF-A1PZ-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6ef799ed-a9fa-4328-95d3-265699e16339 a8458b1d-3040-455b-ae7a-b1ac22b9f2b6 g.chr11:6643302G>A uc001mem.1 - 20 10006 c.9605C>T c.(9604-9606)cCa>cTa p.P3202L TPP1_uc001mek.1_5'Flank|TPP1_uc001mel.1_5'Flank|TPP1_uc010rar.1_5'Flank|DCHS1_uc021qdb.1_Missense_Mutation_p.P157L NM_003737 NP_003728 Q96JQ0 PCD16_HUMAN Homo sapiens dachsous 1 (Drosophila) (DCHS1), mRNA. 3202 calcium-dependent cell-cell adhesion|homophilic cell adhesion integral to membrane|plasma membrane calcium ion binding breast(3)|central_nervous_system(1)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(4)|kidney(4)|large_intestine(16)|liver(1)|lung(41)|ovary(4)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(6)|urinary_tract(4) 103 Medulloblastoma(188;0.00263)|all_neural(188;0.026) Epithelial(150;6.35e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135) GATGAGGGGTGGTGGGTCGAT 0.632000 18 4 0 0 0.00024832 0 0 CREB5 9586 broad.mit.edu 37 7 28848877 28848877 + Missense_Mutation SNP G A A TCGA-BF-A1PZ-01A-11D-A19A-08 TCGA-BF-A1PZ-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6ef799ed-a9fa-4328-95d3-265699e16339 a8458b1d-3040-455b-ae7a-b1ac22b9f2b6 g.chr7:28848877G>A uc003szq.3 + 8 1490 c.1100G>A c.(1099-1101)cGa>cAa p.R367Q CREB5_uc003szo.3_Missense_Mutation_p.R334Q|CREB5_uc003szr.3_Missense_Mutation_p.R360Q|CREB5_uc003szs.3_Missense_Mutation_p.R228Q NM_182898 NP_878902 Q02930 CREB5_HUMAN Homo sapiens cAMP responsive element binding protein 5 (CREB5), transcript variant 1, mRNA. 367 positive regulation of transcription, DNA-dependent|transcription from RNA polymerase II promoter protein dimerization activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding p.R367G(1) breast(2)|central_nervous_system(2)|endometrium(2)|kidney(1)|large_intestine(7)|liver(1)|lung(13)|prostate(1)|skin(3) 32 GGGCGCCGGCGAAGGGTGGTA 0.632000 105 92 0 0 0.000147903 0 0 TCF20 6942 broad.mit.edu 37 22 42608868 42608868 + Missense_Mutation SNP G A A TCGA-BF-A1PZ-01A-11D-A19A-08 TCGA-BF-A1PZ-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6ef799ed-a9fa-4328-95d3-265699e16339 a8458b1d-3040-455b-ae7a-b1ac22b9f2b6 g.chr22:42608868G>A uc003bcj.1 - 0 2578 c.2444C>T c.(2443-2445)cCc>cTc p.P815L TCF20_uc003bck.1_Missense_Mutation_p.P815L NM_005650 NP_005641 Q9UGU0 TCF20_HUMAN Homo sapiens transcription factor 20 (AR1) (TCF20), transcript variant 1, mRNA. 815 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|transcription coactivator activity|zinc ion binding breast(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(7)|large_intestine(13)|lung(22)|ovary(5)|prostate(1)|skin(2)|soft_tissue(1)|upper_aerodigestive_tract(2)|urinary_tract(5) 66 GCCCCAGTGGGGATTTTCTAA 0.443000 29 23 0 0 0.000375601 0 0 UNC5C 8633 broad.mit.edu 37 4 96171773 96171773 + Missense_Mutation SNP G A A TCGA-BF-A1PZ-01A-11D-A19A-08 TCGA-BF-A1PZ-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6ef799ed-a9fa-4328-95d3-265699e16339 a8458b1d-3040-455b-ae7a-b1ac22b9f2b6 g.chr4:96171773G>A uc003hto.3 - 4 993 c.640C>T c.(640-642)Cgg>Tgg p.R214W UNC5C_uc010ilc.2_Missense_Mutation_p.R214W|UNC5C_uc003htq.3_Missense_Mutation_p.R214W NM_003728 NP_003719 O95185 UNC5C_HUMAN Homo sapiens unc-5 homolog C (C. elegans) (UNC5C), mRNA. 214 Ig-like C2-type. apoptosis|axon guidance|brain development integral to membrane netrin receptor activity p.R214L(1) NS(1)|breast(2)|endometrium(2)|kidney(1)|large_intestine(14)|lung(25)|ovary(3)|pancreas(1)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1) 55 Hepatocellular(203;0.114) OV - Ovarian serous cystadenocarcinoma(123;8.72e-10) TAAAAATTCCGATCTTCAACG 0.383000 52 46 0 0 0.000147903 0 0 SRSF7 6432 broad.mit.edu 37 2 38977228 38977228 + Missense_Mutation SNP G A A TCGA-BF-A1PZ-01A-11D-A19A-08 TCGA-BF-A1PZ-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6ef799ed-a9fa-4328-95d3-265699e16339 a8458b1d-3040-455b-ae7a-b1ac22b9f2b6 g.chr2:38977228G>A uc002rqz.3 - 1 375 c.137C>T c.(136-138)cCt>cTt p.P46L SRSF7_uc010ynp.2_Missense_Mutation_p.P46L|SRSF7_uc002rra.3_Non-coding_Transcript|GEMIN6_uc002rrb.3_5'Flank NM_001031684 NP_001026854 Q16629 SRSF7_HUMAN Homo sapiens serine/arginine-rich splicing factor 7 (SRSF7), transcript variant 1, mRNA. 46 RRM. mRNA 3'-end processing|mRNA export from nucleus|nuclear mRNA splicing, via spliceosome|termination of RNA polymerase II transcription nucleoplasm RNA binding|nucleotide binding|protein binding|zinc ion binding breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1) 12 AAATCCTGGAGGATTTCTCGC 0.428000 52 43 0 0 0.000437636 0 0 DHX36 170506 broad.mit.edu 37 3 154027597 154027597 + Missense_Mutation SNP T G G TCGA-BF-A1PZ-01A-11D-A19A-08 TCGA-BF-A1PZ-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6ef799ed-a9fa-4328-95d3-265699e16339 a8458b1d-3040-455b-ae7a-b1ac22b9f2b6 g.chr3:154027597T>G uc003ezy.4 - 4 739 c.658A>C c.(658-660)Att>Ctt p.I220L DHX36_uc010hvq.3_Missense_Mutation_p.I220L|DHX36_uc003ezz.4_Missense_Mutation_p.I220L NM_020865 NP_065916 Q9H2U1 DHX36_HUMAN Homo sapiens DEAH (Asp-Glu-Ala-His) box polypeptide 36 (DHX36), transcript variant 1, mRNA. 220 Helicase ATP-binding. cytoplasm|nucleus ATP binding|ATP-dependent helicase activity|nucleic acid binding|protein binding endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(7)|lung(11)|prostate(2)|skin(1)|urinary_tract(1) 35 LUSC - Lung squamous cell carcinoma(72;0.114)|Lung(72;0.173) TGGTTATCAATTAAATTTACC 0.308000 10 9 0 0 3.86212e-05 0 0 ABTB2 25841 broad.mit.edu 37 11 34184209 34184209 + Missense_Mutation SNP C T T TCGA-BF-A1PZ-01A-11D-A19A-08 TCGA-BF-A1PZ-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6ef799ed-a9fa-4328-95d3-265699e16339 a8458b1d-3040-455b-ae7a-b1ac22b9f2b6 g.chr11:34184209C>T uc001mvl.2 - 9 2557 c.2132G>A c.(2131-2133)cGg>cAg p.R711Q NM_145804 NP_665803 A8K6S9 A8K6S9_HUMAN Homo sapiens ankyrin repeat and BTB (POZ) domain containing 2 (ABTB2), mRNA. 525 DNA binding p.H710R(1) breast(2)|central_nervous_system(2)|endometrium(4)|kidney(2)|large_intestine(1)|lung(6)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1) 25 Acute lymphoblastic leukemia(5;0.0508)|all_hematologic(20;0.0691) GGTGCGGGTCCGGCTCAGCCG 0.672000 19 12 0 0 6.40141e-05 0 0 TMEM143 55260 broad.mit.edu 37 19 48848429 48848429 + Silent SNP C T T TCGA-BF-A1PZ-01A-11D-A19A-08 TCGA-BF-A1PZ-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6ef799ed-a9fa-4328-95d3-265699e16339 a8458b1d-3040-455b-ae7a-b1ac22b9f2b6 g.chr19:48848429C>T uc002pix.1 - 3 561 c.552G>A c.(550-552)caG>caA p.Q184Q TMEM143_uc002piw.1_Non-coding_Transcript|TMEM143_uc010xzn.1_Intron|TMEM143_uc010elw.1_Intron|TMEM143_uc010xzo.1_5'UTR|TMEM143_uc002piy.1_Silent_p.Q149Q|TMEM143_uc010xzp.1_Intron|TMEM143_uc010xzq.1_Intron NM_018273 NP_060743 Q96AN5 TM143_HUMAN Homo sapiens transmembrane protein 143 (TMEM143), mRNA. 184 integral to membrane|mitochondrion endometrium(2)|kidney(1)|large_intestine(2)|lung(9) 14 all_epithelial(76;9.64e-05)|all_lung(116;0.000147)|Lung NSC(112;0.000251)|Prostate(7;0.0187)|all_neural(266;0.0506)|Ovarian(192;0.113) OV - Ovarian serous cystadenocarcinoma(262;0.000149)|all cancers(93;0.000198)|Epithelial(262;0.0151)|GBM - Glioblastoma multiforme(486;0.0157) GGACCTCATCCTGAGGGTGGT 0.637000 15 15 0 0 7.07596e-05 0 0 GNA14 9630 broad.mit.edu 37 9 80043925 80043925 + Silent SNP C T T TCGA-BF-A1PZ-01A-11D-A19A-08 TCGA-BF-A1PZ-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6ef799ed-a9fa-4328-95d3-265699e16339 a8458b1d-3040-455b-ae7a-b1ac22b9f2b6 g.chr9:80043925C>T uc004aku.3 - 4 1144 c.621G>A c.(619-621)tcG>tcA p.S207S NM_004297 NP_004288 O95837 GNA14_HUMAN Homo sapiens guanine nucleotide binding protein (G protein), alpha 14 (GNA14), mRNA. 207 G-protein signaling, coupled to cAMP nucleotide second messenger|activation of phospholipase C activity by dopamine receptor signaling pathway|platelet activation|protein ADP-ribosylation heterotrimeric G-protein complex G-protein beta/gamma-subunit complex binding|G-protein-coupled receptor binding|GTP binding|GTPase activity|signal transducer activity endometrium(3)|kidney(1)|large_intestine(7)|lung(4)|ovary(2)|prostate(1)|skin(4)|urinary_tract(2) 24 TCCGTCTTTCCGATCGTTGGC 0.453000 88 62 0 0 0.000147903 0 0 SYTL5 94122 broad.mit.edu 37 X 37979716 37979716 + Missense_Mutation SNP C A A TCGA-BF-A1PZ-01A-11D-A19A-08 TCGA-BF-A1PZ-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6ef799ed-a9fa-4328-95d3-265699e16339 a8458b1d-3040-455b-ae7a-b1ac22b9f2b6 g.chrX:37979716C>A uc004ddx.3 + 13 2124 c.1768C>A c.(1768-1770)Caa>Aaa p.Q590K SYTL5_uc004ddu.3_Missense_Mutation_p.Q568K|SYTL5_uc004ddv.3_Missense_Mutation_p.Q568K NM_001163334 NP_001156806 Q8TDW5 SYTL5_HUMAN Homo sapiens synaptotagmin-like 5 (SYTL5), transcript variant 3, mRNA. 568 C2 2. intracellular protein transport membrane Rab GTPase binding|metal ion binding p.E590D(1) central_nervous_system(1)|endometrium(5)|kidney(2)|large_intestine(9)|lung(23)|prostate(1)|skin(2)|urinary_tract(1) 44 AGAACAACTCCAAGGTAGAGT 0.398000 63 7 0.000442599 0.00721301 0.000442599 1 0 ITIH1 3697 broad.mit.edu 37 3 52812485 52812485 + Missense_Mutation SNP G A A TCGA-BF-A1PZ-01A-11D-A19A-08 TCGA-BF-A1PZ-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6ef799ed-a9fa-4328-95d3-265699e16339 a8458b1d-3040-455b-ae7a-b1ac22b9f2b6 g.chr3:52812485G>A uc003dfs.3 + 2 298 c.268G>A c.(268-270)Gaa>Aaa p.E90K ITIH1_uc010hmn.2_Non-coding_Transcript|ITIH1_uc021wzf.1_5'Flank|ITIH1_uc021wzg.1_5'Flank|ITIH1_uc021wzh.1_5'Flank NM_002215 NP_002206 P19827 ITIH1_HUMAN Homo sapiens inter-alpha-trypsin inhibitor heavy chain 1 (ITIH1), transcript variant 1, mRNA. 90 VIT. hyaluronan metabolic process|leukocyte activation extracellular region calcium ion binding|serine-type endopeptidase inhibitor activity NS(1)|breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(16)|lung(18)|ovary(4)|prostate(3)|skin(3)|stomach(1)|upper_aerodigestive_tract(1) 52 BRCA - Breast invasive adenocarcinoma(193;7.04e-05)|Kidney(197;0.000659)|KIRC - Kidney renal clear cell carcinoma(197;0.000795)|OV - Ovarian serous cystadenocarcinoma(275;0.0498) CTTCGACCTGGAAATCCCCAA 0.552000 43 28 0 0 0.000491102 0 0 NF1 4763 broad.mit.edu 37 17 29664384 29664384 + Splice_Site SNP A G G TCGA-BF-A1PZ-01A-11D-A19A-08 TCGA-BF-A1PZ-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6ef799ed-a9fa-4328-95d3-265699e16339 a8458b1d-3040-455b-ae7a-b1ac22b9f2b6 g.chr17:29664384A>G uc002hgg.3 + 43 6811 c.6428_splice c.e43-2 p.E2143_splice NF1_uc002hgh.3_Splice_Site_p.E2122_splice|NF1_uc010cso.3_Splice_Site_p.E331_splice|NF1_uc010wbt.1_5'Flank|NF1_uc010wbu.1_5'Flank NM_001042492 NP_001035957 P21359 NF1_HUMAN Homo sapiens neurofibromin 1 (NF1), transcript variant 1, mRNA. 2143 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.?(3) 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) ATTCTCTTACAGAAGAGACCA 0.318000 """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) 15 21 0 0 0.000229342 0 0 ENOX2 10495 broad.mit.edu 37 X 129804005 129804005 + Missense_Mutation SNP G A A TCGA-BF-A1PZ-01A-11D-A19A-08 TCGA-BF-A1PZ-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6ef799ed-a9fa-4328-95d3-265699e16339 a8458b1d-3040-455b-ae7a-b1ac22b9f2b6 g.chrX:129804005G>A uc004evw.3 - 7 1133 c.715C>T c.(715-717)Cca>Tca p.P239S ENOX2_uc004evx.3_Missense_Mutation_p.P210S|ENOX2_uc004evy.3_Missense_Mutation_p.P210S|ENOX2_uc004evv.3_Missense_Mutation_p.P66S NM_182314 NP_006366 Q16206 ENOX2_HUMAN Homo sapiens ecto-NOX disulfide-thiol exchanger 2 (ENOX2), transcript variant 2, mRNA. 239 cell growth|electron transport chain|regulation of growth|transport|ultradian rhythm cytosol|external side of plasma membrane|extracellular space nucleic acid binding|nucleotide binding|protein disulfide oxidoreductase activity breast(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(17)|ovary(1)|prostate(3) 33 GGTGGAGATGGTGGACGCAAT 0.453000 35 22 0 0 0.000586117 0 0 MPEG1 219972 broad.mit.edu 37 11 58978743 58978743 + Silent SNP A G G TCGA-BF-A1PZ-01A-11D-A19A-08 TCGA-BF-A1PZ-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6ef799ed-a9fa-4328-95d3-265699e16339 a8458b1d-3040-455b-ae7a-b1ac22b9f2b6 g.chr11:58978743A>G uc001nnu.4 - 0 1752 c.1596T>C c.(1594-1596)ttT>ttC p.F532F NM_001039396 NP_001034485 Q2M385 MPEG1_HUMAN Homo sapiens macrophage expressed 1 (MPEG1), mRNA. 532 integral to membrane NS(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(21)|ovary(1)|prostate(3)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 39 all_epithelial(135;0.125) CTGTGCAGCTAAAGAACCCGC 0.537000 6 24 0 0 0.000586117 0 0 SLC15A2 6565 broad.mit.edu 37 3 121658303 121658303 + Silent SNP C T T TCGA-BF-A1PZ-01A-11D-A19A-08 TCGA-BF-A1PZ-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6ef799ed-a9fa-4328-95d3-265699e16339 a8458b1d-3040-455b-ae7a-b1ac22b9f2b6 g.chr3:121658303C>T uc003eep.2 + 19 2022 c.1869C>T c.(1867-1869)gtC>gtT p.V623V SLC15A2_uc011bjn.1_Silent_p.V592V NM_021082 NP_066568 Q16348 S15A2_HUMAN Homo sapiens solute carrier family 15 (H+/peptide transporter), member 2 (SLC15A2), transcript variant 1, mRNA. 623 protein transport integral to plasma membrane peptide:hydrogen symporter activity|protein binding NS(1)|endometrium(1)|kidney(4)|large_intestine(5)|lung(17)|skin(6)|upper_aerodigestive_tract(2) 36 GBM - Glioblastoma multiforme(114;0.0967) Cefadroxil(DB01140) CTGGGGAGGTCATGTTCTCTG 0.428000 50 20 0 0 0.000132079 0 0 SDR16C5 195814 broad.mit.edu 37 8 57224797 57224797 + Silent SNP G A A TCGA-BF-A1PZ-01A-11D-A19A-08 TCGA-BF-A1PZ-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6ef799ed-a9fa-4328-95d3-265699e16339 a8458b1d-3040-455b-ae7a-b1ac22b9f2b6 g.chr8:57224797G>A uc010lyk.1 - 2 1022 c.384C>T c.(382-384)atC>atT p.I128I SDR16C5_uc003xsy.1_Silent_p.I128I|SDR16C5_uc010lyl.1_Intron NM_138969 NP_620419 Q8N3Y7 RDHE2_HUMAN Homo sapiens short chain dehydrogenase/reductase family 16C, member 5 (SDR16C5), mRNA. 128 detection of light stimulus involved in visual perception|keratinocyte proliferation|retinal metabolic process|retinol metabolic process endoplasmic reticulum membrane|integral to membrane|integral to membrane of membrane fraction binding|retinol dehydrogenase activity breast(2)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(2)|lung(3)|ovary(1)|prostate(1)|skin(1) 16 TGCCTGTTACGATTCCGGCAT 0.378000 12 72 0 0 0.000147903 0 0 ITGA5 3678 broad.mit.edu 37 12 54793535 54793535 + Missense_Mutation SNP G T T rs142652896 TCGA-BF-A1PZ-01A-11D-A19A-08 TCGA-BF-A1PZ-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6ef799ed-a9fa-4328-95d3-265699e16339 a8458b1d-3040-455b-ae7a-b1ac22b9f2b6 g.chr12:54793535G>T uc001sga.3 - 26 2803 c.2735C>A c.(2734-2736)cCg>cAg p.P912Q NM_002205 NP_002196 P08648 ITA5_HUMAN Homo sapiens integrin, alpha 5 (fibronectin receptor, alpha polypeptide) (ITGA5), mRNA. 912 angiogenesis|axon guidance|blood coagulation|integrin-mediated signaling pathway|interspecies interaction between organisms|leukocyte migration|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of vascular endothelial growth factor receptor signaling pathway|wound healing, spreading of epidermal cells alphav-beta3 integrin-vitronectin complex|integrin complex|ruffle platelet-derived growth factor receptor binding|receptor activity|vascular endothelial growth factor receptor 2 binding NS(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(11)|ovary(2)|prostate(1)|upper_aerodigestive_tract(2) 34 CTCAGCCTCCGGGCATTTCTA 0.547000 OREG0021897 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 56 5 0.000602214 0.00978683 0.000602214 1 0 MYO1A 4640 broad.mit.edu 37 12 57422623 57422623 + Silent SNP G A A TCGA-BF-A1PZ-01A-11D-A19A-08 TCGA-BF-A1PZ-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6ef799ed-a9fa-4328-95d3-265699e16339 a8458b1d-3040-455b-ae7a-b1ac22b9f2b6 g.chr12:57422623G>A uc001smw.4 - 27 3288 c.3048C>T c.(3046-3048)gtC>gtT p.V1016V MYO1A_uc010sqz.2_Silent_p.V854V|MYO1A_uc009zpd.3_Silent_p.V1016V NM_005379 NP_005370 Q9UBC5 MYO1A_HUMAN Homo sapiens myosin IA (MYO1A), transcript variant 2, mRNA. 1016 sensory perception of sound|vesicle localization brush border|cortical actin cytoskeleton|filamentous actin|lateral plasma membrane|microvillus|myosin complex ATP binding|actin binding|calmodulin binding|motor activity breast(1)|cervix(1)|endometrium(5)|kidney(2)|large_intestine(12)|lung(17)|ovary(2)|skin(7)|urinary_tract(3) 50 GGCCCTGGACGACCTTGACAG 0.562000 27 22 0 0 0.000295444 0 0 DSCR10 259234 broad.mit.edu 37 21 39580553 39580553 + RNA SNP G A A TCGA-BF-A1PZ-01A-11D-A19A-08 TCGA-BF-A1PZ-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6ef799ed-a9fa-4328-95d3-265699e16339 a8458b1d-3040-455b-ae7a-b1ac22b9f2b6 g.chr21:39580553G>A uc010gnt.2 + 2 c.675G>A Homo sapiens Down syndrome critical region gene 10 (non-protein coding) (DSCR10), non-coding RNA. GTTTGCCATCGAAGGAAAACC 0.403000 17 96 0 0 0.000147903 0 0 HBBP1 3044 broad.mit.edu 37 11 5264435 5264435 + Silent SNP G A A TCGA-BF-A1PZ-01A-11D-A19A-08 TCGA-BF-A1PZ-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6ef799ed-a9fa-4328-95d3-265699e16339 a8458b1d-3040-455b-ae7a-b1ac22b9f2b6 g.chr11:5264435G>A uc001mag.3 - 1 267 c.51C>T c.(49-51)ttC>ttT p.F17F Homo sapiens hemoglobin, beta pseudogene 1 (HBBP1), non-coding RNA. CAGCTTTTCCGAAGGAGATCA 0.498000 2 22 0 0 0.00047179 0 0 OR6C76 390326 broad.mit.edu 37 12 55820290 55820290 + Missense_Mutation SNP G A A TCGA-BF-A1PZ-01A-11D-A19A-08 TCGA-BF-A1PZ-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6ef799ed-a9fa-4328-95d3-265699e16339 a8458b1d-3040-455b-ae7a-b1ac22b9f2b6 g.chr12:55820290G>A uc010spm.2 + 0 253 c.253G>A c.(253-255)Ggg>Agg p.G85R NM_001005183 NP_001005183 A6NM76 O6C76_HUMAN Homo sapiens olfactory receptor, family 6, subfamily C, member 76 (OR6C76), mRNA. 85 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity p.G85E(1) NS(1)|central_nervous_system(1)|large_intestine(3)|lung(4)|prostate(1)|skin(1)|soft_tissue(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 14 CATTCTAACAGGGGACAAATC 0.408000 36 35 0 0 0.000228196 0 0 DCAF8L2 347442 broad.mit.edu 37 X 27765849 27765849 + Silent SNP C T T TCGA-BF-A1PZ-01A-11D-A19A-08 TCGA-BF-A1PZ-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6ef799ed-a9fa-4328-95d3-265699e16339 a8458b1d-3040-455b-ae7a-b1ac22b9f2b6 g.chrX:27765849C>T uc011mjy.2 + 0 924 c.837C>T c.(835-837)ttC>ttT p.F279F NM_001136533 NP_001130005 Homo sapiens DDB1 and CUL4 associated factor 8-like 2 (DCAF8L2), mRNA. central_nervous_system(1)|endometrium(9)|kidney(3)|lung(7)|pancreas(1)|skin(3) 24 AGGCCAAGTTCCTTCCTAACT 0.478000 11 10 0 0 3.86212e-05 0 0 DSCAM 1826 broad.mit.edu 37 21 41559187 41559187 + Splice_Site SNP C A A TCGA-BF-A1PZ-01A-11D-A19A-08 TCGA-BF-A1PZ-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6ef799ed-a9fa-4328-95d3-265699e16339 a8458b1d-3040-455b-ae7a-b1ac22b9f2b6 g.chr21:41559187C>A uc002yyq.1 - 14 3103 c.2651_splice c.e14-1 p.E884_splice DSCAM_uc002yyr.1_Splice_Site NM_001389 NP_001380 O60469 DSCAM_HUMAN Homo sapiens Down syndrome cell adhesion molecule (DSCAM), transcript variant 1, mRNA. 884 cell adhesion|dendrite self-avoidance|negative regulation of cell adhesion|positive regulation of axon extension involved in axon guidance|positive regulation of phosphorylation axon|extracellular region|growth cone|integral to plasma membrane|membrane fraction protein binding NS(2)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(22)|haematopoietic_and_lymphoid_tissue(4)|kidney(6)|large_intestine(22)|lung(47)|ovary(7)|pancreas(2)|prostate(3)|skin(14)|upper_aerodigestive_tract(6)|urinary_tract(4) 142 all_cancers(19;0.186)|Prostate(19;1.15e-05)|all_epithelial(19;0.0103) TCTGGGGGCTCTGTGCCATCA 0.478000 2 15 9.16793e-09 1.58276e-07 0.000566183 1 0 AADACL2 344752 broad.mit.edu 37 3 151475314 151475314 + Missense_Mutation SNP C T T TCGA-BF-A1PZ-01A-11D-A19A-08 TCGA-BF-A1PZ-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6ef799ed-a9fa-4328-95d3-265699e16339 a8458b1d-3040-455b-ae7a-b1ac22b9f2b6 g.chr3:151475314C>T uc003ezc.3 + 4 1258 c.1138C>T c.(1138-1140)Cca>Tca p.P380S MIR548H2_uc021xgb.1_Intron|AADACL2_uc010hvn.3_Missense_Mutation_p.P167S NM_207365 NP_997248 Q6P093 ADCL2_HUMAN Homo sapiens arylacetamide deacetylase-like 2 (AADACL2), mRNA. 380 extracellular region|integral to membrane carboxylesterase activity NS(1)|breast(1)|endometrium(2)|large_intestine(4)|liver(1)|lung(13)|skin(2) 24 LUSC - Lung squamous cell carcinoma(72;0.0394)|Lung(72;0.0813) CATGACTTCACCATTTTATTT 0.338000 36 26 0 0 9.22233e-05 0 0 KCNT2 343450 broad.mit.edu 37 1 196392194 196392194 + Missense_Mutation SNP C T T TCGA-BF-A1PZ-01A-11D-A19A-08 TCGA-BF-A1PZ-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6ef799ed-a9fa-4328-95d3-265699e16339 a8458b1d-3040-455b-ae7a-b1ac22b9f2b6 g.chr1:196392194C>T uc001gtd.1 - 11 1231 c.1171G>A c.(1171-1173)Gat>Aat p.D391N KCNT2_uc009wyt.1_Non-coding_Transcript|KCNT2_uc001gte.1_Missense_Mutation_p.D391N|KCNT2_uc001gtf.1_Missense_Mutation_p.D391N|KCNT2_uc001gtg.1_Intron|KCNT2_uc009wyu.3_Missense_Mutation_p.D391N|KCNT2_uc009wyv.1_Missense_Mutation_p.D366N NM_198503 NP_940905 Q6UVM3 KCNT2_HUMAN Homo sapiens potassium channel, subfamily T, member 2 (KCNT2), mRNA. 391 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 GATGTCCTATCCACTTCACAA 0.328000 3 7 0 0 0.000157383 0 0 ILDR2 387597 broad.mit.edu 37 1 166904624 166904624 + Missense_Mutation SNP C A A TCGA-BF-A1PZ-01A-11D-A19A-08 TCGA-BF-A1PZ-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6ef799ed-a9fa-4328-95d3-265699e16339 a8458b1d-3040-455b-ae7a-b1ac22b9f2b6 g.chr1:166904624C>A uc001gdx.2 - 5 850 c.794G>T c.(793-795)gGa>gTa p.G265V NM_199351 NP_955383 Q71H61 ILDR2_HUMAN Homo sapiens immunoglobulin-like domain containing receptor 2 (ILDR2), mRNA. 265 integral to membrane NS(3)|breast(1)|kidney(2)|large_intestine(2)|lung(9)|ovary(1)|skin(2)|upper_aerodigestive_tract(2) 22 GGGGGCTCCTCCCAAAGGGAC 0.597000 85 7 0.000442599 0.00721301 0.000442599 1 0 RHOT2 89941 broad.mit.edu 37 16 720261 720261 + Silent SNP C T T TCGA-BF-A1PZ-01A-11D-A19A-08 TCGA-BF-A1PZ-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6ef799ed-a9fa-4328-95d3-265699e16339 a8458b1d-3040-455b-ae7a-b1ac22b9f2b6 g.chr16:720261C>T uc002cip.3 + 6 459 c.342C>T c.(340-342)atC>atT p.I114I RHOT2_uc002ciq.3_Intron|RHOT2_uc010bqy.3_5'Flank NM_138769 NP_620124 Q8IXI1 MIRO2_HUMAN Homo sapiens ras homolog gene family, member T2 (RHOT2), nuclear gene encoding mitochondrial protein, mRNA. 114 Miro 1. apoptosis|cellular homeostasis|mitochondrion transport along microtubule|regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction cytosol|integral to mitochondrial outer membrane|plasma membrane GTP binding|GTPase activity|calcium ion binding|protein binding endometrium(2)|kidney(3)|lung(4)|ovary(1)|pancreas(2)|prostate(1) 13 Hepatocellular(780;0.0218) TGCCCATCATCCTAGTGGGCA 0.642000 20 22 0 0 0.00047179 0 0 PCDH15 65217 broad.mit.edu 37 10 55568979 55568979 + Missense_Mutation SNP C T T TCGA-BF-A1PZ-01A-11D-A19A-08 TCGA-BF-A1PZ-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6ef799ed-a9fa-4328-95d3-265699e16339 a8458b1d-3040-455b-ae7a-b1ac22b9f2b6 g.chr10:55568979C>T uc021pqw.1 - 35 5235 c.4840G>A c.(4840-4842)Gaa>Aaa p.E1614K PCDH15_uc010qhq.2_Intron|PCDH15_uc010qhr.2_Intron|PCDH15_uc021pqv.1_3'UTR|PCDH15_uc010qht.2_Missense_Mutation_p.E1609K|PCDH15_uc021pqx.1_3'UTR NM_001142769 NP_001136241 Q96QU1 PCD15_HUMAN Homo sapiens protocadherin-related 15 (PCDH15), transcript variant I, mRNA. 0 equilibrioception|homophilic cell adhesion|photoreceptor cell maintenance|sensory perception of sound extracellular region|extracellular space|integral to membrane|photoreceptor outer segment|plasma membrane|stereocilium|synapse calcium ion binding NS(3)|breast(6)|central_nervous_system(1)|cervix(3)|endometrium(18)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(39)|lung(108)|ovary(5)|pancreas(6)|prostate(6)|skin(12)|upper_aerodigestive_tract(12)|urinary_tract(1) 237 Melanoma(3;0.117)|Lung SC(717;0.238) GACTCTTCTTCACTGTATTCA 0.453000 HNSCC(58;0.16) 22 12 0 0 0.000151284 0 0 FAT3 120114 broad.mit.edu 37 11 92523303 92523303 + Silent SNP G A A TCGA-BF-A1PZ-01A-11D-A19A-08 TCGA-BF-A1PZ-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6ef799ed-a9fa-4328-95d3-265699e16339 a8458b1d-3040-455b-ae7a-b1ac22b9f2b6 g.chr11:92523303G>A uc001pdj.4 + 6 4547 c.4530G>A c.(4528-4530)cgG>cgA p.R1510R NM_001008781 NP_001008781 Q8TDW7 FAT3_HUMAN Homo sapiens FAT tumor suppressor homolog 3 (Drosophila) (FAT3), mRNA. 1510 Cadherin 14. homophilic cell adhesion|multicellular organismal development integral to membrane|plasma membrane calcium ion binding NS(1)|breast(2)|endometrium(10)|kidney(4)|large_intestine(11)|liver(2)|lung(37)|ovary(5)|pancreas(1)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(5) 85 Acute lymphoblastic leukemia(157;3.01e-05)|all_hematologic(158;0.00858) GAAAATTCCGGATTGACCCTA 0.493000 TCGA Ovarian(4;0.039) 26 133 0 0 0.000147903 0 0 PRSS57 400668 broad.mit.edu 37 19 686951 686951 + Missense_Mutation SNP C T T TCGA-BF-A1PZ-01A-11D-A19A-08 TCGA-BF-A1PZ-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6ef799ed-a9fa-4328-95d3-265699e16339 a8458b1d-3040-455b-ae7a-b1ac22b9f2b6 g.chr19:686951C>T uc002lpl.1 - 3 650 c.619G>A c.(619-621)Gac>Aac p.D207N PRSS57_uc010xfs.1_Missense_Mutation_p.D206N NM_214710 NP_999875 Q6UWY2 PRS57_HUMAN Homo sapiens protease, serine, 57 (PRSS57), mRNA. 207 Peptidase S1. proteolysis extracellular region serine-type endopeptidase activity central_nervous_system(1)|lung(5) 6 CTGTGGCTGTCCCCACTGCGG 0.627000 13 14 0 0 0.000219431 0 0 ATP6V0A1 535 broad.mit.edu 37 17 40647163 40647164 + Missense_Mutation DNP GG TT TT TCGA-BF-A1PZ-01A-11D-A19A-08 TCGA-BF-A1PZ-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6ef799ed-a9fa-4328-95d3-265699e16339 a8458b1d-3040-455b-ae7a-b1ac22b9f2b6 g.chr17:40647163_40647164GG>TT uc002hzs.3 + 12 1614_1615 c.1447_1448GG>TT c.(1447-1449)ggg>TTg p.G483L ATP6V0A1_uc002hzr.3_Missense_Mutation_p.G476L|ATP6V0A1_uc002hzq.3_Missense_Mutation_p.G476L|ATP6V0A1_uc010wgj.2_Missense_Mutation_p.G433L|ATP6V0A1_uc010wgk.2_Missense_Mutation_p.G433L|ATP6V0A1_uc010cyg.3_Missense_Mutation_p.G122L|ATP6V0A1_uc010wgl.2_Missense_Mutation_p.G335L NM_001130020 NP_001123492 Q93050 VPP1_HUMAN Homo sapiens ATPase, H+ transporting, lysosomal V0 subunit a1 (ATP6V0A1), transcript variant 1, mRNA. 476 ATP hydrolysis coupled proton transport|cellular iron ion homeostasis|insulin receptor signaling pathway|transferrin transport Golgi apparatus|cytoplasmic vesicle membrane|endosome membrane|integral to membrane|melanosome|nucleus|plasma membrane|proton-transporting two-sector ATPase complex, proton-transporting domain ATPase binding|hydrogen ion transmembrane transporter activity endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(4)|lung(8)|pancreas(1)|prostate(1)|urinary_tract(3) 26 all_cancers(22;1.18e-05)|Breast(137;0.000105)|all_epithelial(22;0.000254) BRCA - Breast invasive adenocarcinoma(366;0.137) TAATATCTTTGGGTCATCCTGG 0.396000 237 9 0 0 6.4e-05 0 0 RUNDC1 146923 broad.mit.edu 37 17 41143452 41143452 + Missense_Mutation SNP C T T TCGA-BF-A1PZ-01A-11D-A19A-08 TCGA-BF-A1PZ-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6ef799ed-a9fa-4328-95d3-265699e16339 a8458b1d-3040-455b-ae7a-b1ac22b9f2b6 g.chr17:41143452C>T uc002ici.1 + 4 1573 c.1561C>T c.(1561-1563)Cac>Tac p.H521Y NM_173079 NP_775102 Q96C34 RUND1_HUMAN Homo sapiens RUN domain containing 1 (RUNDC1), mRNA. 521 RUN. breast(1)|large_intestine(2)|lung(4)|prostate(1) 8 Breast(137;0.00499) BRCA - Breast invasive adenocarcinoma(366;0.161) GACAGCCATCCACATGGTGCT 0.557000 27 19 0 0 9.7654e-05 0 0 SYT2 127833 broad.mit.edu 37 1 202571173 202571173 + Missense_Mutation SNP C T T TCGA-BF-A1PZ-01A-11D-A19A-08 TCGA-BF-A1PZ-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6ef799ed-a9fa-4328-95d3-265699e16339 a8458b1d-3040-455b-ae7a-b1ac22b9f2b6 g.chr1:202571173C>T uc001gye.3 - 5 839 c.646G>A c.(646-648)Gag>Aag p.E216K SYT2_uc010pqb.2_Missense_Mutation_p.E216K|SYT2_uc009xaf.3_Missense_Mutation_p.E46K NM_001136504 NP_796376 Q8N9I0 SYT2_HUMAN Homo sapiens synaptotagmin II (SYT2), transcript variant 2, mRNA. 216 C2 1.|Phospholipid binding (By similarity). neurotransmitter secretion cell junction|chromaffin granule membrane|endocytic vesicle membrane|integral to membrane|synaptic vesicle membrane protein binding|transporter activity NS(1)|breast(4)|endometrium(3)|kidney(1)|large_intestine(5)|liver(1)|lung(9)|ovary(2)|skin(2)|urinary_tract(1) 29 BRCA - Breast invasive adenocarcinoma(75;0.169) Botulinum Toxin Type B(DB00042) CCCCCAAGCTCCTGGTATGGC 0.567000 46 30 0 0 0.000279167 0 0 RAG1 5896 broad.mit.edu 37 11 36595128 36595128 + Missense_Mutation SNP C T T TCGA-BF-A1PZ-01A-11D-A19A-08 TCGA-BF-A1PZ-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6ef799ed-a9fa-4328-95d3-265699e16339 a8458b1d-3040-455b-ae7a-b1ac22b9f2b6 g.chr11:36595128C>T uc021qgb.1 + 0 274 c.274C>T c.(274-276)Cac>Tac p.H92Y RAG1_uc001mwt.3_Non-coding_Transcript|RAG1_uc001mwu.4_Missense_Mutation_p.H92Y NM_000448 NP_000439 P15918 RAG1_HUMAN Homo sapiens recombination activating gene 1 (RAG1), mRNA. 92 Interaction with importin alpha-1. T cell differentiation in thymus|V(D)J recombination|histone monoubiquitination|immune response|pre-B cell allelic exclusion|protein autoubiquitination nucleus endonuclease activity|histone binding|protein homodimerization activity|sequence-specific DNA binding|ubiquitin-protein ligase activity|zinc ion binding NS(1)|breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(14)|liver(1)|lung(33)|ovary(1)|pancreas(1)|prostate(1)|skin(5)|urinary_tract(1) 65 all_lung(20;0.226) all_hematologic(20;0.107) AAAGAAATTTCACGACAACGA 0.483000 Familial Hemophagocytic Lymphohistiocytosis 9 94 0 0 0.000147903 0 0 PDGFRA 5156 broad.mit.edu 37 4 55139894 55139894 + Missense_Mutation SNP C T T TCGA-BF-A1PZ-01A-11D-A19A-08 TCGA-BF-A1PZ-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6ef799ed-a9fa-4328-95d3-265699e16339 a8458b1d-3040-455b-ae7a-b1ac22b9f2b6 g.chr4:55139894C>T uc003han.4 + 9 1886 c.1555C>T c.(1555-1557)Ccc>Tcc p.P519S PDGFRA_uc003haa.3_Intron|PDGFRA_uc010igq.1_Missense_Mutation_p.P413S|PDGFRA_uc003ham.2_Non-coding_Transcript NM_006206 NP_006197 P16234 PGFRA_HUMAN Homo sapiens platelet-derived growth factor receptor, alpha polypeptide (PDGFRA), mRNA. 519 cardiac myofibril assembly|cell activation|luteinization|metanephric glomerular capillary formation|peptidyl-tyrosine phosphorylation|positive regulation of DNA replication|positive regulation of cell migration|positive regulation of fibroblast proliferation|protein autophosphorylation|retina vasculature development in camera-type eye cytoplasm|integral to plasma membrane|nucleus ATP binding|platelet-derived growth factor alpha-receptor activity|platelet-derived growth factor binding|platelet-derived growth factor receptor binding|protein homodimerization activity|vascular endothelial growth factor receptor activity NS(1)|autonomic_ganglia(1)|bone(1)|breast(4)|central_nervous_system(17)|cervix(1)|endometrium(4)|eye(1)|gastrointestinal_tract_(site_indeterminate)(1)|haematopoietic_and_lymphoid_tissue(22)|kidney(6)|large_intestine(26)|liver(4)|lung(48)|ovary(4)|prostate(6)|skin(11)|small_intestine(49)|soft_tissue(727)|stomach(32)|urinary_tract(1) 967 all_cancers(7;0.000425)|all_lung(4;0.000343)|Lung NSC(11;0.000467)|all_epithelial(27;0.0131)|all_neural(26;0.0209)|Glioma(25;0.08) GBM - Glioblastoma multiforme(1;4.18e-71)|all cancers(1;4.76e-45)|LUSC - Lung squamous cell carcinoma(32;0.00256) Becaplermin(DB00102)|Imatinib(DB00619)|Sunitinib(DB01268) GCTGGTGGCTCCCAGTGAGTT 0.547000 """Mis, O, T""" FIP1L1 """GIST, idiopathic hypereosinophilic syndrome, paediatric GBM""" Gastrointestinal Stromal Tumors, Sporadic Multiple Primary;Familial Intestinal Neurofibromatosis TSP Lung(21;0.16) 4 25 0 0 0.000117367 0 0 OR7D4 125958 broad.mit.edu 37 19 9324991 9324991 + Missense_Mutation SNP G A A TCGA-BF-A1PZ-01A-11D-A19A-08 TCGA-BF-A1PZ-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6ef799ed-a9fa-4328-95d3-265699e16339 a8458b1d-3040-455b-ae7a-b1ac22b9f2b6 g.chr19:9324991G>A uc002mla.2 - 0 557 c.523C>T c.(523-525)Ccg>Tcg p.P175S NM_001005191 NP_001005191 Q8NG98 OR7D4_HUMAN Homo sapiens olfactory receptor, family 7, subfamily D, member 4 (OR7D4), mRNA. 175 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity p.P175L(1) breast(2)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(2)|lung(10)|ovary(2)|skin(3)|stomach(1) 26 AAGAAATGCGGAATCTCAGTG 0.507000 31 19 0 0 0.000229342 0 0 CMYA5 202333 broad.mit.edu 37 5 79026439 79026440 + Missense_Mutation DNP CC AA AA TCGA-BF-A1PZ-01A-11D-A19A-08 TCGA-BF-A1PZ-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6ef799ed-a9fa-4328-95d3-265699e16339 a8458b1d-3040-455b-ae7a-b1ac22b9f2b6 g.chr5:79026439_79026440CC>AA uc003kgc.3 + 1 1923_1924 c.1851_1852CC>AA c.(1849-1854)ccccca>ccAAca p.P618T NM_153610 NP_705838 Q8N3K9 CMYA5_HUMAN Homo sapiens cardiomyopathy associated 5 (CMYA5), mRNA. 618 Glu-rich. perinuclear region of cytoplasm NS(2)|breast(4)|central_nervous_system(1)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(4)|kidney(4)|large_intestine(37)|lung(34)|ovary(6)|pancreas(2)|prostate(5)|skin(5)|stomach(11)|upper_aerodigestive_tract(3)|urinary_tract(1) 128 Lung NSC(167;0.00296)|all_lung(232;0.00327)|Ovarian(174;0.0262) OV - Ovarian serous cystadenocarcinoma(54;9.85e-46)|Epithelial(54;3.38e-40)|all cancers(79;3.43e-35) AGCCAGTTCCCCCATCCAATGT 0.436000 75 6 0 0 6.4e-05 0 0 NLRC3 197358 broad.mit.edu 37 16 3614107 3614107 + Silent SNP C T T TCGA-BF-A1PZ-01A-11D-A19A-08 TCGA-BF-A1PZ-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6ef799ed-a9fa-4328-95d3-265699e16339 a8458b1d-3040-455b-ae7a-b1ac22b9f2b6 g.chr16:3614107C>T uc010btn.3 - 4 1242 c.831G>A c.(829-831)ggG>ggA p.G277G NM_178844 NP_849172 Q7RTR2 NLRC3_HUMAN Homo sapiens NLR family, CARD domain containing 3 (NLRC3), mRNA. 277 NACHT. I-kappaB kinase/NF-kappaB cascade|T cell activation|negative regulation of NF-kappaB transcription factor activity cytoplasm ATP binding breast(1)|central_nervous_system(2)|endometrium(1)|kidney(3)|large_intestine(1)|liver(1)|lung(16)|ovary(2)|pancreas(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 34 CCACCAGGCCCCCTGGGATCT 0.597000 19 15 0 0 0.000422831 0 0 C14orf102 55051 broad.mit.edu 37 14 90770317 90770317 + Missense_Mutation SNP G A A TCGA-BF-A1PZ-01A-11D-A19A-08 TCGA-BF-A1PZ-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6ef799ed-a9fa-4328-95d3-265699e16339 a8458b1d-3040-455b-ae7a-b1ac22b9f2b6 g.chr14:90770317G>A uc001xyi.2 - 4 1200 c.967C>T c.(967-969)Cgg>Tgg p.R323W C14orf102_uc010atp.1_5'UTR|C14orf102_uc001xyj.2_Missense_Mutation_p.R92W NM_017970 NP_060440 Q9H7Z3 CN102_HUMAN Homo sapiens chromosome 14 open reading frame 102 (C14orf102), mRNA. 323 protein binding NS(1)|autonomic_ganglia(1)|breast(2)|endometrium(5)|large_intestine(10)|lung(12)|ovary(5)|prostate(2)|upper_aerodigestive_tract(1) 39 all_cancers(154;0.118) COAD - Colon adenocarcinoma(157;0.218) TGCGTATCCCGAGGATTCTCC 0.517000 29 40 0 0 0.000374591 0 0 ADCY8 114 broad.mit.edu 37 8 131861907 131861908 + Missense_Mutation DNP GG AA AA TCGA-BF-A1PZ-01A-11D-A19A-08 TCGA-BF-A1PZ-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6ef799ed-a9fa-4328-95d3-265699e16339 a8458b1d-3040-455b-ae7a-b1ac22b9f2b6 g.chr8:131861907_131861908GG>AA uc003ytd.4 - 9 2608_2609 c.2352_2353CC>TT c.(2350-2355)gcccgg>gcTTgg p.R785W ADCY8_uc010mds.3_Intron NM_001115 NP_001106 P40145 ADCY8_HUMAN Homo sapiens adenylate cyclase 8 (brain) (ADCY8), mRNA. 785 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) ATGACGTTCCGGGCCAAATAGG 0.465000 HNSCC(32;0.087) 3 23 0 0 6.4e-05 0 0 ABCG1 9619 broad.mit.edu 37 21 43708082 43708082 + Missense_Mutation SNP C T T TCGA-BF-A1PZ-01A-11D-A19A-08 TCGA-BF-A1PZ-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6ef799ed-a9fa-4328-95d3-265699e16339 a8458b1d-3040-455b-ae7a-b1ac22b9f2b6 g.chr21:43708082C>T uc011aev.2 + 8 1164 c.1090C>T c.(1090-1092)Cac>Tac p.H364Y ABCG1_uc002zam.3_Missense_Mutation_p.H331Y|ABCG1_uc002zan.3_Missense_Mutation_p.H355Y|ABCG1_uc002zao.3_Missense_Mutation_p.H350Y|ABCG1_uc002zap.3_Missense_Mutation_p.H353Y|ABCG1_uc002zaq.3_Missense_Mutation_p.H353Y|ABCG1_uc002zar.3_Missense_Mutation_p.H364Y|ABCG1_uc010gpb.2_5'UTR NM_004915 NP_004906 P45844 ABCG1_HUMAN Homo sapiens ATP-binding cassette, sub-family G (WHITE), member 1 (ABCG1), transcript variant 4, mRNA. 353 amyloid precursor protein catabolic process|cholesterol efflux|cholesterol homeostasis|cholesterol metabolic process|detection of hormone stimulus|high-density lipoprotein particle remodeling|intracellular cholesterol transport|lipoprotein metabolic process|low-density lipoprotein particle remodeling|negative regulation of cholesterol storage|negative regulation of macrophage derived foam cell differentiation|phospholipid efflux|phospholipid homeostasis|positive regulation of cholesterol biosynthetic process|regulation of cholesterol esterification|regulation of transcription, DNA-dependent|response to lipid|reverse cholesterol transport Golgi membrane|endoplasmic reticulum membrane|external side of plasma membrane|recycling endosome ADP binding|ATP binding|cholesterol transporter activity|glycoprotein transporter activity|phospholipid transporter activity|protein heterodimerization activity|protein homodimerization activity|sterol-transporting ATPase activity|toxin transporter activity breast(1)|central_nervous_system(2)|endometrium(4)|kidney(2)|large_intestine(8)|lung(6)|ovary(3)|prostate(2)|stomach(1) 29 Adenosine triphosphate(DB00171) TGACTCAGACCACAAGAGAGA 0.552000 15 37 0 0 0.000132358 0 0 ZNF33A 7581 broad.mit.edu 37 10 38344791 38344791 + Missense_Mutation SNP C T T TCGA-BF-A1PZ-01A-11D-A19A-08 TCGA-BF-A1PZ-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6ef799ed-a9fa-4328-95d3-265699e16339 a8458b1d-3040-455b-ae7a-b1ac22b9f2b6 g.chr10:38344791C>T uc010qev.2 + 3 1861 c.1757C>T c.(1756-1758)cCc>cTc p.P586L ZNF33A_uc001izg.3_Missense_Mutation_p.P580L|ZNF33A_uc001izh.3_Missense_Mutation_p.P579L|ZNF33A_uc001izi.1_Intron|ZNF33A_uc021ppe.1_Missense_Mutation_p.P580L NM_006974 NP_008905 Q06730 ZN33A_HUMAN Homo sapiens zinc finger protein 33A (ZNF33A), transcript variant 2, mRNA. 579 nucleus DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding cervix(2)|endometrium(2)|large_intestine(8)|liver(2)|lung(27)|ovary(2)|prostate(1)|skin(2) 46 GGGGAGAAACCCTACGAATGT 0.388000 25 17 0 0 0.000566183 0 0 KIAA1715 80856 broad.mit.edu 37 2 176812232 176812233 + Missense_Mutation DNP GG AA AA rs147224445 by1000genomes TCGA-BF-A1PZ-01A-11D-A19A-08 TCGA-BF-A1PZ-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6ef799ed-a9fa-4328-95d3-265699e16339 a8458b1d-3040-455b-ae7a-b1ac22b9f2b6 g.chr2:176812232_176812233GG>AA uc010fqw.1 - 8 879_880 c.879_880CC>TT c.(877-882)tcccct>tcTTct p.P294S KIAA1715_uc010zes.1_Missense_Mutation_p.P230S|KIAA1715_uc002ukd.1_Missense_Mutation_p.P105S|KIAA1715_uc002ukc.1_Missense_Mutation_p.P228S|KIAA1715_uc010zer.1_Missense_Mutation_p.P228S|KIAA1715_uc010zet.1_Non-coding_Transcript Q9C0E8 LNP_HUMAN Homo sapiens KIAA1715 (KIAA1715), mRNA. 228 integral to membrane protein binding endometrium(1)|large_intestine(4)|lung(12)|ovary(2)|skin(1) 20 OV - Ovarian serous cystadenocarcinoma(117;0.0793) GAAGTAGCAGGGGATCCAAGAT 0.455000 25 20 0 0 6.4e-05 0 0 PCLO 27445 broad.mit.edu 37 7 82763974 82763974 + Missense_Mutation SNP C T T TCGA-BF-A1PZ-01A-11D-A19A-08 TCGA-BF-A1PZ-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6ef799ed-a9fa-4328-95d3-265699e16339 a8458b1d-3040-455b-ae7a-b1ac22b9f2b6 g.chr7:82763974C>T uc003uhx.2 - 2 3181 c.2892G>A c.(2890-2892)atG>atA p.M964I PCLO_uc003uhv.2_Missense_Mutation_p.M964I NM_033026 NP_149015 Q9Y6V0 PCLO_HUMAN Homo sapiens piccolo (presynaptic cytomatrix protein) (PCLO), transcript variant 1, mRNA. 910 Pro-rich. cytoskeleton organization|synaptic vesicle exocytosis cell junction|cytoskeleton|synaptic vesicle calcium ion binding|calcium-dependent phospholipid binding|profilin binding|transporter activity breast(3)|central_nervous_system(3)|cervix(5)|endometrium(19)|haematopoietic_and_lymphoid_tissue(3)|kidney(19)|large_intestine(35)|lung(145)|ovary(7)|prostate(4)|upper_aerodigestive_tract(14)|urinary_tract(2) 259 GGGCTTGTTTCATTGGGGCCC 0.507000 13 7 0 0 0.000157383 0 0 LRRN1 57633 broad.mit.edu 37 3 3886938 3886938 + Missense_Mutation SNP G A A TCGA-BF-A1PZ-01A-11D-A19A-08 TCGA-BF-A1PZ-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6ef799ed-a9fa-4328-95d3-265699e16339 a8458b1d-3040-455b-ae7a-b1ac22b9f2b6 g.chr3:3886938G>A uc003bpt.4 + 1 1374 c.613G>A c.(613-615)Gga>Aga p.G205R SUMF1_uc003bps.2_Intron|LRRN1_uc021wsh.1_Missense_Mutation_p.G205R NM_020873 NP_065924 Q6UXK5 LRRN1_HUMAN Homo sapiens leucine rich repeat neuronal 1 (LRRN1), mRNA. 205 integral to membrane NS(2)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(6)|lung(9)|prostate(1)|skin(1)|urinary_tract(2) 26 Epithelial(13;0.000886)|all cancers(10;0.0032)|OV - Ovarian serous cystadenocarcinoma(96;0.00608)|STAD - Stomach adenocarcinoma(44;0.0617) CCCTGTGATTGGAATTCTGGA 0.418000 48 45 0 0 0.000147903 0 0 PCLO 27445 broad.mit.edu 37 7 82453683 82453683 + Missense_Mutation SNP C A A TCGA-BF-A1PZ-01A-11D-A19A-08 TCGA-BF-A1PZ-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6ef799ed-a9fa-4328-95d3-265699e16339 a8458b1d-3040-455b-ae7a-b1ac22b9f2b6 g.chr7:82453683C>A uc003uhx.2 - 18 14754 c.14465G>T c.(14464-14466)tGg>tTg p.W4822L PCLO_uc003uhv.2_Missense_Mutation_p.W4822L|PCLO_uc003uht.1_Missense_Mutation_p.W264L|PCLO_uc003uhu.1_Missense_Mutation_p.W243L NM_033026 NP_149015 Q9Y6V0 PCLO_HUMAN Homo sapiens piccolo (presynaptic cytomatrix protein) (PCLO), transcript variant 1, mRNA. 4684 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 GAGAGGATACCACCTTGGAGT 0.388000 30 19 2.98393e-07 5.13625e-06 0.000375601 1 0 HLTF 6596 broad.mit.edu 37 3 148759427 148759427 + Silent SNP C T T TCGA-BF-A1PZ-01A-11D-A19A-08 TCGA-BF-A1PZ-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6ef799ed-a9fa-4328-95d3-265699e16339 a8458b1d-3040-455b-ae7a-b1ac22b9f2b6 g.chr3:148759427C>T uc003ewq.1 - 19 2444 c.2226G>A c.(2224-2226)aaG>aaA p.K742K HLTF_uc003ewr.1_Silent_p.K742K|HLTF_uc003ews.1_Silent_p.K741K|HLTF_uc010hve.1_Silent_p.K741K NM_139048 NP_620636 Q14527 HLTF_HUMAN Homo sapiens helicase-like transcription factor (HLTF), transcript variant 2, mRNA. 742 chromatin modification|transcription, DNA-dependent nucleus ATP binding|DNA binding|helicase activity|ligase activity|zinc ion binding breast(2)|cervix(1)|endometrium(5)|kidney(3)|large_intestine(9)|lung(18)|ovary(1)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(2) 47 LUSC - Lung squamous cell carcinoma(72;0.0473)|Lung(72;0.0607) TTATTAACTTCTTTCTCAGTT 0.343000 60 37 0 0 0.000319135 0 0 SIRT1 23411 broad.mit.edu 37 10 69669084 69669084 + Silent SNP T C C TCGA-BF-A1PZ-01A-11D-A19A-08 TCGA-BF-A1PZ-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6ef799ed-a9fa-4328-95d3-265699e16339 a8458b1d-3040-455b-ae7a-b1ac22b9f2b6 g.chr10:69669084T>C uc001jnd.3 + 6 1295 c.1242T>C c.(1240-1242)ttT>ttC p.F414F SIRT1_uc010qis.2_Silent_p.F119F|SIRT1_uc009xpp.3_Silent_p.F222F|SIRT1_uc001jne.3_Silent_p.F111F NM_012238 NP_001135970 Q96EB6 SIRT1_HUMAN Homo sapiens sirtuin 1 (SIRT1), transcript variant 1, mRNA. 414 Deacetylase sirtuin-type. DNA repair|DNA replication|apoptosis|cell aging|cellular response to hydrogen peroxide|cellular response to starvation|chromatin silencing at rDNA|establishment of chromatin silencing|histone H3 deacetylation|interspecies interaction between organisms|maintenance of chromatin silencing|muscle organ development|negative regulation of DNA damage response, signal transduction by p53 class mediator|negative regulation of androgen receptor signaling pathway|negative regulation of cell growth|negative regulation of fat cell differentiation|negative regulation of helicase activity|negative regulation of sequence-specific DNA binding transcription factor activity|negative regulation of transcription from RNA polymerase II promoter|peptidyl-lysine acetylation|peptidyl-lysine deacetylation|positive regulation of DNA repair|positive regulation of anti-apoptosis|positive regulation of chromatin silencing|rRNA processing|regulation of apoptosis|regulation of cell proliferation|regulation of endodeoxyribonuclease activity|regulation of protein import into nucleus, translocation|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor|transcription, DNA-dependent|triglyceride mobilization|white fat cell differentiation PML body|chromatin silencing complex|cytoplasm|nuclear euchromatin|nuclear heterochromatin|nuclear inner membrane|nucleolus|rDNA heterochromatin HLH domain binding|NAD+ binding|NAD-dependent histone deacetylase activity (H3-K9 specific)|bHLH transcription factor binding|histone binding|identical protein binding|mitogen-activated protein kinase binding|p53 binding|protein C-terminus binding|transcription corepressor activity|zinc ion binding central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(6)|lung(3)|skin(1) 14 TTGTGTTTTTTGGTGAAAATT 0.408000 32 24 0 0 0.00047179 0 0 CD1B 910 broad.mit.edu 37 1 158298032 158298032 + Silent SNP G A A TCGA-BF-A1PZ-01A-11D-A19A-08 TCGA-BF-A1PZ-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6ef799ed-a9fa-4328-95d3-265699e16339 a8458b1d-3040-455b-ae7a-b1ac22b9f2b6 g.chr1:158298032G>A uc001frx.3 - 5 1104 c.996C>T c.(994-996)atC>atT p.I332I CD1B_uc001frw.3_Silent_p.I277I NM_001764 NP_001755 P29016 CD1B_HUMAN Homo sapiens CD1b molecule (CD1B), mRNA. 332 antigen processing and presentation|immune response endosome membrane|integral to membrane|lysosomal membrane|plasma membrane protein binding breast(2)|large_intestine(2)|lung(17)|ovary(2)|prostate(5)|skin(1)|upper_aerodigestive_tract(1) 30 all_hematologic(112;0.0378) TGGCTCATGGGATATTCTGAT 0.348000 86 8 0 0 0.000274275 0 0 OR7D2 162998 broad.mit.edu 37 19 9297187 9297187 + Missense_Mutation SNP C T T TCGA-BF-A1PZ-01A-11D-A19A-08 TCGA-BF-A1PZ-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6ef799ed-a9fa-4328-95d3-265699e16339 a8458b1d-3040-455b-ae7a-b1ac22b9f2b6 g.chr19:9297187C>T uc002mkz.1 + 0 918 c.730C>T c.(730-732)Cac>Tac p.H244Y NM_175883 NP_787079 Q96RA2 OR7D2_HUMAN Homo sapiens olfactory receptor, family 7, subfamily D, member 2 (OR7D2), mRNA. 244 regulation of transcription, DNA-dependent|sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity breast(2)|cervix(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(6)|ovary(2)|upper_aerodigestive_tract(2) 20 CTGTGGGTCTCACCTCTCCGT 0.478000 31 17 0 0 0.000566183 0 0 DOCK2 1794 broad.mit.edu 37 5 169494644 169494644 + Missense_Mutation SNP G A A TCGA-BF-A1PZ-01A-11D-A19A-08 TCGA-BF-A1PZ-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6ef799ed-a9fa-4328-95d3-265699e16339 a8458b1d-3040-455b-ae7a-b1ac22b9f2b6 g.chr5:169494644G>A uc003maf.3 + 44 4678 c.4598G>A c.(4597-4599)gGg>gAg p.G1533E DOCK2_uc011der.2_Non-coding_Transcript|DOCK2_uc010jjm.3_Missense_Mutation_p.G1025E|DOCK2_uc003mah.3_Missense_Mutation_p.G89E NM_004946 NP_004937 Q92608 DOCK2_HUMAN Homo sapiens dedicator of cytokinesis 2 (DOCK2), mRNA. 1533 DHR-2. actin cytoskeleton organization|regulation of defense response to virus by virus|viral reproduction cytoskeleton|cytosol|endomembrane system|membrane GTP binding|GTPase binding|Rac guanyl-nucleotide exchange factor activity|T cell receptor binding|electron carrier activity|heme binding NS(2)|breast(5)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(42)|liver(2)|lung(63)|ovary(5)|pancreas(3)|prostate(7)|skin(5)|stomach(2)|upper_aerodigestive_tract(3) 160 Renal(175;0.000159)|Lung NSC(126;0.0221)|all_lung(126;0.0337) Medulloblastoma(196;0.0399)|all_neural(177;0.0966) Kidney(164;7.53e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525) CTCCTGAACGGGATTGTGGAC 0.532000 7 70 0 0 0.000147903 0 0 UNC5D 137970 broad.mit.edu 37 8 35544076 35544076 + Nonsense_Mutation SNP G A A TCGA-BF-A1PZ-01A-11D-A19A-08 TCGA-BF-A1PZ-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6ef799ed-a9fa-4328-95d3-265699e16339 a8458b1d-3040-455b-ae7a-b1ac22b9f2b6 g.chr8:35544076G>A uc003xjr.2 + 6 1261 c.933G>A c.(931-933)tgG>tgA p.W311* UNC5D_uc003xjs.2_Nonsense_Mutation_p.W306*|UNC5D_uc003xjt.1_Nonsense_Mutation_p.W80* NM_080872 NP_543148 Q6UXZ4 UNC5D_HUMAN Homo sapiens unc-5 homolog D (C. elegans) (UNC5D), mRNA. 311 TSP type-1 2. apoptosis|axon guidance integral to membrane receptor activity p.E311E(1) NS(2)|breast(7)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(4)|kidney(2)|large_intestine(14)|lung(56)|ovary(3)|pancreas(1)|prostate(2)|skin(4)|upper_aerodigestive_tract(6)|urinary_tract(2) 112 READ - Rectum adenocarcinoma(1;1.31e-05)|Colorectal(1;0.000723) ATGGGAGCTGGGAAGTGTGGA 0.522000 6 34 0 0 0.000509022 0 0 LTBP4 8425 broad.mit.edu 37 19 41128911 41128912 + Missense_Mutation DNP CT TC TC TCGA-BF-A1PZ-01A-11D-A19A-08 TCGA-BF-A1PZ-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6ef799ed-a9fa-4328-95d3-265699e16339 a8458b1d-3040-455b-ae7a-b1ac22b9f2b6 g.chr19:41128911_41128912CT>TC uc002ooh.1 + 27 3739_3740 c.3739_3740CT>TC c.(3739-3741)ctg>TCg p.L1247S LTBP4_uc002oog.1_Missense_Mutation_p.L1210S|LTBP4_uc002ooi.1_Missense_Mutation_p.L1180S|LTBP4_uc002ooj.1_Missense_Mutation_p.L121S|LTBP4_uc002ook.1_Missense_Mutation_p.L382S|LTBP4_uc002ool.1_Missense_Mutation_p.L260S|LTBP4_uc010xvp.1_Intron NM_001042544 NP_001036009 Q8N2S1 LTBP4_HUMAN Homo sapiens latent transforming growth factor beta binding protein 4 (LTBP4), transcript variant 1, mRNA. 1248 growth hormone secretion|multicellular organismal development|protein folding|regulation of cell differentiation|regulation of cell growth|regulation of proteolysis|regulation of transforming growth factor beta receptor signaling pathway extracellular space|proteinaceous extracellular matrix calcium ion binding|glycosaminoglycan binding|integrin binding|transforming growth factor beta binding|transforming growth factor beta receptor activity central_nervous_system(1) 1 Lung(22;0.000158)|LUSC - Lung squamous cell carcinoma(20;0.000384) CAGTGGAGACCTGAGCCTCCGG 0.619000 6 8 0 0 6.4e-05 0 0 DSC3 1825 broad.mit.edu 37 18 28576991 28576991 + Silent SNP G A A TCGA-BF-A1PZ-01A-11D-A19A-08 TCGA-BF-A1PZ-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6ef799ed-a9fa-4328-95d3-265699e16339 a8458b1d-3040-455b-ae7a-b1ac22b9f2b6 g.chr18:28576991G>A uc002kwj.4 - 14 2414 c.2259C>T c.(2257-2259)acC>acT p.T753T DSC3_uc002kwi.4_Silent_p.T753T NM_001941 NP_001932 Q14574 DSC3_HUMAN Homo sapiens desmocollin 3 (DSC3), transcript variant Dsc3a, mRNA. 753 homophilic cell adhesion|protein stabilization desmosome|integral to membrane|membrane fraction calcium ion binding|gamma-catenin binding endometrium(6)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(6)|lung(29)|ovary(2)|prostate(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 56 OV - Ovarian serous cystadenocarcinoma(10;0.125) TGGTAGTTTGGGTCATAAATC 0.388000 20 14 0 0 0.000422831 0 0 RBP2 5948 broad.mit.edu 37 3 139173626 139173626 + Missense_Mutation SNP C T T TCGA-BF-A1PZ-01A-11D-A19A-08 TCGA-BF-A1PZ-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6ef799ed-a9fa-4328-95d3-265699e16339 a8458b1d-3040-455b-ae7a-b1ac22b9f2b6 g.chr3:139173626C>T uc003eth.3 - 2 350 c.299G>A c.(298-300)gGg>gAg p.G100E NM_004164 NP_004155 P50120 RET2_HUMAN Homo sapiens retinol binding protein 2, cellular (RBP2), mRNA. 100 epidermis development|retinoid metabolic process|steroid metabolic process|vitamin A metabolic process cytosol retinal binding|retinol binding|transporter activity breast(1)|large_intestine(1)|lung(7)|prostate(1)|skin(1)|urinary_tract(1) 12 Vitamin A(DB00162) CTCCTTCTCCCCCTTTTGCAC 0.517000 49 29 0 0 0.000132358 0 0 PDPR 55066 broad.mit.edu 37 16 70176252 70176252 + Silent SNP T C C TCGA-BF-A1PZ-01A-11D-A19A-08 TCGA-BF-A1PZ-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6ef799ed-a9fa-4328-95d3-265699e16339 a8458b1d-3040-455b-ae7a-b1ac22b9f2b6 g.chr16:70176252T>C uc002eyf.1 + 11 2388 c.1431T>C c.(1429-1431)caT>caC p.H477H CLEC18A_uc002exy.3_Intron|PDPR_uc010vlr.1_Silent_p.H377H|PDPR_uc002eyg.1_Silent_p.H205H NM_017990 NP_060460 Q8NCN5 PDPR_HUMAN Homo sapiens pyruvate dehydrogenase phosphatase regulatory subunit (PDPR), mRNA. 477 glycine catabolic process|pyruvate metabolic process|regulation of acetyl-CoA biosynthetic process from pyruvate mitochondrial matrix aminomethyltransferase activity|oxidoreductase activity breast(1)|central_nervous_system(1)|cervix(2)|endometrium(2)|kidney(2)|large_intestine(3)|lung(17)|skin(2)|stomach(3) 33 BRCA - Breast invasive adenocarcinoma(221;0.124) TGGAGAAACATGGATTTGAGA 0.483000 71 20 0 0 0.000375601 0 0 CORO7-PAM16 100529144 broad.mit.edu 37 16 4414791 4414791 + Silent SNP G A A TCGA-BF-A1PZ-01A-11D-A19A-08 TCGA-BF-A1PZ-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6ef799ed-a9fa-4328-95d3-265699e16339 a8458b1d-3040-455b-ae7a-b1ac22b9f2b6 g.chr16:4414791G>A uc002cwf.3 - 11 1472 c.1029C>T c.(1027-1029)taC>taT p.Y343Y CORO7-PAM16_uc002cwe.3_Non-coding_Transcript|CORO7-PAM16_uc002cwg.4_Silent_p.Y123Y|CORO7-PAM16_uc002cwh.4_Silent_p.Y343Y|CORO7-PAM16_uc010uxh.2_Silent_p.Y325Y|CORO7-PAM16_uc010uxi.2_Silent_p.Y258Y|CORO7-PAM16_uc002cwi.1_Silent_p.Y123Y|CORO7-PAM16_uc010uxj.1_Non-coding_Transcript|CORO7-PAM16_uc010btp.1_Silent_p.Y123Y NM_001201479 NP_001188408 Homo sapiens CORO7-PAM16 readthrough (CORO7-PAM16), mRNA. GGGGCACATGGTAGCCGATGG 0.701000 6 6 0 0 3.59834e-05 0 0 LRP5 4041 broad.mit.edu 37 11 68197081 68197081 + Missense_Mutation SNP C T T TCGA-BF-A1PZ-01A-11D-A19A-08 TCGA-BF-A1PZ-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6ef799ed-a9fa-4328-95d3-265699e16339 a8458b1d-3040-455b-ae7a-b1ac22b9f2b6 g.chr11:68197081C>T uc001ont.3 + 16 3751 c.3676C>T c.(3676-3678)Cac>Tac p.H1226Y LRP5_uc009ysg.3_Missense_Mutation_p.H636Y NM_002335 NP_002326 O75197 LRP5_HUMAN Homo sapiens low density lipoprotein receptor-related protein 5 (LRP5), mRNA. 1226 EGF-like 4. 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 TGGCTGCTCCCACATCTGTAT 0.577000 9 43 0 0 0.000147903 0 0 HUWE1 10075 broad.mit.edu 37 X 53576138 53576139 + Missense_Mutation DNP GT AA AA TCGA-BF-A1PZ-01A-11D-A19A-08 TCGA-BF-A1PZ-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6ef799ed-a9fa-4328-95d3-265699e16339 a8458b1d-3040-455b-ae7a-b1ac22b9f2b6 g.chrX:53576138_53576139GT>AA uc004dsp.3 - 66 10218_10219 c.9816_9817AC>TT c.(9814-9819)ctacac>ctTTac p.H3273Y HUWE1_uc004dsn.3_Missense_Mutation_p.H2081Y NM_031407 NP_113584 Q7Z6Z7 HUWE1_HUMAN Homo sapiens HECT, UBA and WWE domain containing 1 (HUWE1), mRNA. 3273 base-excision repair|cell differentiation|histone ubiquitination|protein monoubiquitination|protein polyubiquitination|protein ubiquitination involved in ubiquitin-dependent protein catabolic process cytoplasm|nucleus DNA binding|protein binding|ubiquitin-protein ligase activity NS(1)|breast(15)|central_nervous_system(1)|cervix(1)|endometrium(17)|haematopoietic_and_lymphoid_tissue(4)|kidney(8)|large_intestine(29)|liver(2)|lung(52)|ovary(11)|prostate(2)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(2) 153 TCCATCTTGTGTAGCAGGTCCA 0.500000 40 44 0 0 6.4e-05 0 0 SPAG6 9576 broad.mit.edu 37 10 22678237 22678237 + Missense_Mutation SNP C T T TCGA-BF-A1PZ-01A-11D-A19A-08 TCGA-BF-A1PZ-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6ef799ed-a9fa-4328-95d3-265699e16339 a8458b1d-3040-455b-ae7a-b1ac22b9f2b6 g.chr10:22678237C>T uc001iri.3 + 6 1168 c.1001C>T c.(1000-1002)tCt>tTt p.S334F SPAG6_uc010qct.2_Missense_Mutation_p.S309F|SPAG6_uc009xkh.3_Missense_Mutation_p.S312F|SPAG6_uc001irj.3_Missense_Mutation_p.S334F|SPAG6_uc021poe.1_Missense_Mutation_p.S60F NM_012443 NP_036575 O75602 SPAG6_HUMAN Homo sapiens sperm associated antigen 6 (SPAG6), transcript variant 1, mRNA. 334 cell projection organization|spermatid development axoneme|cilium|cytoplasm|flagellum|microtubule binding breast(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(13)|prostate(1)|skin(2) 27 GTCATCATTTCTAAGGTTTGT 0.418000 8 8 0 0 0.000442599 0 0 GUCA1C 9626 broad.mit.edu 37 3 108627012 108627012 + Nonsense_Mutation SNP G A A TCGA-BF-A1PZ-01A-11D-A19A-08 TCGA-BF-A1PZ-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6ef799ed-a9fa-4328-95d3-265699e16339 a8458b1d-3040-455b-ae7a-b1ac22b9f2b6 g.chr3:108627012G>A uc003dxj.2 - 3 555 c.487C>T c.(487-489)Cag>Tag p.Q163* GUCA1C_uc003dxk.2_Missense_Mutation_p.S176L NM_005459 NP_005450 O95843 GUC1C_HUMAN Homo sapiens guanylate cyclase activator 1C (GUCA1C), mRNA. 163 EF-hand 4. signal transduction|visual perception calcium ion binding|calcium sensitive guanylate cyclase activator activity endometrium(2)|large_intestine(1)|liver(1)|lung(8)|pancreas(1)|skin(1) 14 AGGAGATCCTGATCTTTTGCC 0.413000 25 22 0 0 0.000375601 0 0 EPB41L4A 64097 broad.mit.edu 37 5 111541138 111541139 + Missense_Mutation DNP CC AA AA TCGA-BF-A1PZ-01A-11D-A19A-08 TCGA-BF-A1PZ-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6ef799ed-a9fa-4328-95d3-265699e16339 a8458b1d-3040-455b-ae7a-b1ac22b9f2b6 g.chr5:111541138_111541139CC>AA uc003kpv.1 - 13 1515_1516 c.1241_1242GG>TT c.(1240-1242)tgg>tTT p.W414F EPB41L4A_uc003kpp.1_Missense_Mutation_p.W41F NM_022140 NP_071423 Q9HCS5 E41LA_HUMAN Homo sapiens erythrocyte membrane protein band 4.1 like 4A (EPB41L4A), mRNA. 414 cytoplasm|cytoskeleton|extrinsic to membrane cytoskeletal protein binding breast(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(10)|ovary(1)|prostate(2)|skin(1) 34 all_cancers(142;4.93e-06)|all_epithelial(76;2.28e-08)|Prostate(80;0.000244)|Colorectal(10;0.000788)|Ovarian(225;0.0448)|Lung NSC(167;0.126)|all_lung(232;0.135) OV - Ovarian serous cystadenocarcinoma(64;6.24e-09)|Epithelial(69;1.43e-07)|all cancers(49;2.78e-05)|COAD - Colon adenocarcinoma(37;0.0467)|Colorectal(14;0.0791) CATTTTCTTCCCACGGTGCATG 0.351000 361 11 0 0 6.4e-05 0 0 CR1 1378 broad.mit.edu 37 1 207785355 207785356 + Missense_Mutation DNP GG TT TT TCGA-BF-A1PZ-01A-11D-A19A-08 TCGA-BF-A1PZ-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6ef799ed-a9fa-4328-95d3-265699e16339 a8458b1d-3040-455b-ae7a-b1ac22b9f2b6 g.chr1:207785355_207785356GG>TT uc001hfy.3 + 30 5334_5335 c.5194_5195GG>TT c.(5194-5196)ggg>TTg p.G1732L CR1_uc001hfx.3_Missense_Mutation_p.G2182L|CR1_uc021pij.1_Missense_Mutation_p.G1732L NM_000573 NP_000564 P17927 CR1_HUMAN Homo sapiens complement component (3b/4b) receptor 1 (Knops blood group) (CR1), transcript variant F, mRNA. 1732 Sushi 27. complement activation, classical pathway|innate immune response integral to plasma membrane complement receptor activity NS(1)|breast(1)|central_nervous_system(1)|endometrium(9)|kidney(11)|large_intestine(13)|lung(33)|ovary(3)|prostate(6)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 82 TCTCCAGCTTGGGGCAAAGGTG 0.475000 403 10 0 0 6.4e-05 0 0 PRR12 57479 broad.mit.edu 37 19 50099552 50099552 + Missense_Mutation SNP C T T TCGA-BF-A1PZ-01A-11D-A19A-08 TCGA-BF-A1PZ-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6ef799ed-a9fa-4328-95d3-265699e16339 a8458b1d-3040-455b-ae7a-b1ac22b9f2b6 g.chr19:50099552C>T uc002poo.4 + 3 1960 c.1960C>T c.(1960-1962)Cgg>Tgg p.R654W NM_020719 NP_065770 Q9ULL5 PRR12_HUMAN Homo sapiens proline rich 12 (PRR12), mRNA. 412 Pro-rich. DNA binding p.R654W(1) NS(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(2)|pancreas(1)|prostate(2) 11 all_lung(116;2.45e-07)|Lung NSC(112;1.24e-06)|Ovarian(192;0.0728)|all_neural(266;0.0887) OV - Ovarian serous cystadenocarcinoma(262;0.00319)|GBM - Glioblastoma multiforme(134;0.0132) CAGCCCTCCTCGGACCTCAGG 0.706000 4 4 0 0 0.00024832 0 0 FAM127B 26071 broad.mit.edu 37 X 134186036 134186036 + Missense_Mutation SNP C T T TCGA-BF-A1PZ-01A-11D-A19A-08 TCGA-BF-A1PZ-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6ef799ed-a9fa-4328-95d3-265699e16339 a8458b1d-3040-455b-ae7a-b1ac22b9f2b6 g.chrX:134186036C>T uc004eyf.3 - 0 186 c.103G>A c.(103-105)Gga>Aga p.G35R FAM127B_uc004eyg.4_Missense_Mutation_p.G35R NM_001078172 NP_001071640 Q9BWD3 F127B_HUMAN Homo sapiens family with sequence similarity 127, member B (FAM127B), transcript variant 1, mRNA. 35 p.D34N(1) breast(3)|endometrium(2)|large_intestine(3)|lung(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 14 Acute lymphoblastic leukemia(192;0.000127) TCGGTATCTCCGTCAAACGTC 0.642000 40 25 0 0 0.000279167 0 0 USP26 83844 broad.mit.edu 37 X 132160163 132160163 + Missense_Mutation SNP G A A TCGA-BF-A1PZ-01A-11D-A19A-08 TCGA-BF-A1PZ-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6ef799ed-a9fa-4328-95d3-265699e16339 a8458b1d-3040-455b-ae7a-b1ac22b9f2b6 g.chrX:132160163G>A uc011mvf.2 - 0 2138 c.2086C>T c.(2086-2088)Cca>Tca p.P696S USP26_uc010nrm.1_Missense_Mutation_p.P696S NM_031907 NP_114113 Q9BXU7 UBP26_HUMAN Homo sapiens ubiquitin specific peptidase 26 (USP26), mRNA. 696 protein deubiquitination|ubiquitin-dependent protein catabolic process nucleus cysteine-type peptidase activity|protein binding|ubiquitin thiolesterase activity breast(3)|central_nervous_system(3)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(11)|liver(2)|lung(18)|ovary(1)|prostate(2)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(3) 60 Acute lymphoblastic leukemia(192;0.000127) TTTCGTTTTGGATTTTCGGGC 0.383000 26 18 0 0 7.07596e-05 0 0 MUC16 94025 broad.mit.edu 37 19 9018458 9018458 + Silent SNP A T T rs138331829 by1000genomes TCGA-BF-A1PZ-01A-11D-A19A-08 TCGA-BF-A1PZ-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6ef799ed-a9fa-4328-95d3-265699e16339 a8458b1d-3040-455b-ae7a-b1ac22b9f2b6 g.chr19:9018458A>T uc002mkp.3 - 23 37920 c.37716T>A c.(37714-37716)acT>acA p.T12572T NM_024690 NP_078966 Q8WXI7 MUC16_HUMAN Homo sapiens mucin 16, cell surface associated (MUC16), mRNA. 12574 SEA 4. 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 GGACCCTCTCAGTGGTGTTGA 0.557000 94 6 0 0 0.000274275 0 0 ADAMTS6 11174 broad.mit.edu 37 5 64766717 64766717 + Missense_Mutation SNP C T T TCGA-BF-A1PZ-01A-11D-A19A-08 TCGA-BF-A1PZ-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6ef799ed-a9fa-4328-95d3-265699e16339 a8458b1d-3040-455b-ae7a-b1ac22b9f2b6 g.chr5:64766717C>T uc003jtp.3 - 2 1164 c.350G>A c.(349-351)gGg>gAg p.G117E ADAMTS6_uc003jto.3_Non-coding_Transcript|ADAMTS6_uc003jtq.3_Non-coding_Transcript|ADAMTS6_uc003jtr.1_5'UTR NM_197941 NP_922932 Q9UKP5 ATS6_HUMAN Homo sapiens ADAM metallopeptidase with thrombospondin type 1 motif, 6 (ADAMTS6), mRNA. 117 proteolysis proteinaceous extracellular matrix metalloendopeptidase activity|zinc ion binding breast(2)|cervix(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(7)|pancreas(1)|prostate(1)|skin(3) 18 Lung NSC(167;2.44e-06)|Prostate(74;0.014)|Ovarian(174;0.0549)|Breast(144;0.111)|Colorectal(97;0.235) Lung(70;0.00942) TCCATCTTTCCCCCAATATTC 0.358000 7 54 0 0 0.000147903 0 0 ZNF791 163049 broad.mit.edu 37 19 12738600 12738601 + Missense_Mutation DNP CC AA AA TCGA-BF-A1PZ-01A-11D-A19A-08 TCGA-BF-A1PZ-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6ef799ed-a9fa-4328-95d3-265699e16339 a8458b1d-3040-455b-ae7a-b1ac22b9f2b6 g.chr19:12738600_12738601CC>AA uc002mua.2 + 3 419_420 c.257_258CC>AA c.(256-258)ccc>cAA p.P86Q ZNF791_uc010xml.1_Missense_Mutation_p.P54Q|ZNF791_uc010dyu.1_5'UTR|ZNF791_uc010xmm.1_5'UTR NM_153358 NP_699189 Q3KP31 ZN791_HUMAN Homo sapiens zinc finger protein 791 (ZNF791), mRNA. 86 KRAB. regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding endometrium(3)|large_intestine(5)|lung(6)|ovary(2)|prostate(3) 19 AACTTCAGTCCCAATCTCAGTG 0.431000 133 7 0 0 6.4e-05 0 0 KRT72 140807 broad.mit.edu 37 12 52994945 52994945 + Missense_Mutation SNP G A A TCGA-BF-A1PZ-01A-11D-A19A-08 TCGA-BF-A1PZ-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6ef799ed-a9fa-4328-95d3-265699e16339 a8458b1d-3040-455b-ae7a-b1ac22b9f2b6 g.chr12:52994945G>A uc001sar.2 - 0 378 c.292C>T c.(292-294)Cct>Tct p.P98S KRT72_uc001saq.2_Missense_Mutation_p.P98S|KRT72_uc010sns.1_Missense_Mutation_p.P98S|KRT72_uc010snt.1_5'UTR NM_001146225 NP_542785 Q14CN4 K2C72_HUMAN Homo sapiens keratin 72 (KRT72), transcript variant 2, mRNA. 98 Head. keratin filament structural molecule activity endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(6)|lung(14)|ovary(5)|pancreas(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(2) 36 BRCA - Breast invasive adenocarcinoma(357;0.195) GTGACCTGAGGGATGCCCCCG 0.731000 9 6 0 0 8.12818e-05 0 0 GALNTL2 117248 broad.mit.edu 37 3 16216975 16216975 + Missense_Mutation SNP G A A TCGA-BF-A1PZ-01A-11D-A19A-08 TCGA-BF-A1PZ-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6ef799ed-a9fa-4328-95d3-265699e16339 a8458b1d-3040-455b-ae7a-b1ac22b9f2b6 g.chr3:16216975G>A uc003car.4 + 0 792 c.317G>A c.(316-318)aGg>aAg p.R106K GALNTL2_uc003caq.4_Intron NM_054110 NP_473451 Q8N3T1 GLTL2_HUMAN Homo sapiens UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase-like 2 (GALNTL2), mRNA. 106 Golgi membrane|integral to membrane|transport vesicle polypeptide N-acetylgalactosaminyltransferase activity|sugar binding NS(2)|breast(3)|endometrium(4)|kidney(1)|large_intestine(11)|liver(1)|lung(8)|ovary(1)|skin(1)|stomach(1) 33 CAGGCCAGAAGGAACCAGAGC 0.622000 12 7 0 0 3.86212e-05 0 0 RBM27 54439 broad.mit.edu 37 5 145613065 145613065 + Missense_Mutation SNP T G G TCGA-BF-A1PZ-01A-11D-A19A-08 TCGA-BF-A1PZ-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6ef799ed-a9fa-4328-95d3-265699e16339 a8458b1d-3040-455b-ae7a-b1ac22b9f2b6 g.chr5:145613065T>G uc003lnz.4 + 6 1069 c.903T>G c.(901-903)gaT>gaG p.D301E RBM27_uc003lny.2_Missense_Mutation_p.D301E NM_018989 NP_061862 Q9P2N5 RBM27_HUMAN Homo sapiens RNA binding motif protein 27 (RBM27), mRNA. 301 mRNA processing cytoplasm|nuclear speck RNA binding|nucleotide binding|zinc ion binding NS(2)|breast(1)|central_nervous_system(3)|endometrium(4)|kidney(5)|large_intestine(7)|liver(2)|lung(10)|ovary(1)|pancreas(1)|prostate(2)|upper_aerodigestive_tract(1) 39 KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101) ATGGAAATGATCCCCTAGTTG 0.423000 26 158 0 0 0.000147903 0 0 UPK1B 7348 broad.mit.edu 37 3 118909871 118909871 + Missense_Mutation SNP C A A TCGA-BF-A1PZ-01A-11D-A19A-08 TCGA-BF-A1PZ-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6ef799ed-a9fa-4328-95d3-265699e16339 a8458b1d-3040-455b-ae7a-b1ac22b9f2b6 g.chr3:118909871C>A uc003ecc.3 + 4 477 c.388C>A c.(388-390)Caa>Aaa p.Q130K UPK1B_uc011bix.2_Missense_Mutation_p.Q50K|UPK1B_uc003ecd.3_Missense_Mutation_p.Q122K NM_006952 NP_008883 O75841 UPK1B_HUMAN Homo sapiens uroplakin 1B (UPK1B), mRNA. 130 epithelial cell differentiation integral to membrane structural molecule activity breast(1)|endometrium(3)|large_intestine(2)|lung(6)|pancreas(1)|skin(1) 14 GBM - Glioblastoma multiforme(114;0.222) AGAGAGGTACCAAAACAACAG 0.483000 178 8 7.48243e-07 1.28415e-05 0.000442599 1 0 WNT10B 7480 broad.mit.edu 37 12 49361771 49361771 + Silent SNP G A A TCGA-BF-A1PZ-01A-11D-A19A-08 TCGA-BF-A1PZ-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6ef799ed-a9fa-4328-95d3-265699e16339 a8458b1d-3040-455b-ae7a-b1ac22b9f2b6 g.chr12:49361771G>A uc001rss.3 - 3 1113 c.669C>T c.(667-669)atC>atT p.I223I WNT10B_uc001rst.3_Missense_Mutation_p.S176F NM_003394 NP_003385 O00744 WN10B_HUMAN Homo sapiens wingless-type MMTV integration site family, member 10B (WNT10B), mRNA. 223 Wnt receptor signaling pathway, calcium modulating pathway|axis specification|bone trabecula formation|canonical Wnt receptor signaling pathway|cellular response to retinoic acid|chondrocyte differentiation|female gonad development|hemopoietic stem cell proliferation|midbrain-hindbrain boundary development|myoblast cell differentiation involved in skeletal muscle regeneration|negative regulation of epithelial cell proliferation|negative regulation of fat cell differentiation|neuron differentiation|positive regulation of anagen|positive regulation of apoptosis|positive regulation of bone mineralization|positive regulation of cell proliferation|positive regulation of epithelial cell differentiation|positive regulation of osteoblast differentiation|protein stabilization|regulation of skeletal muscle tissue development|skeletal muscle fiber development|smoothened signaling pathway extracellular space|plasma membrane|proteinaceous extracellular matrix G-protein-coupled receptor binding|signal transducer activity central_nervous_system(1)|large_intestine(5)|lung(12)|prostate(1)|skin(4) 23 TTCGTGCCTGGATGTCCCGGG 0.547000 11 7 0 0 8.12818e-05 0 0 LRRK1 79705 broad.mit.edu 37 15 101565040 101565040 + Silent SNP C T T TCGA-BF-A1PZ-01A-11D-A19A-08 TCGA-BF-A1PZ-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6ef799ed-a9fa-4328-95d3-265699e16339 a8458b1d-3040-455b-ae7a-b1ac22b9f2b6 g.chr15:101565040C>T uc002bwr.3 + 15 2419 c.2100C>T c.(2098-2100)atC>atT p.I700I LRRK1_uc010usb.2_Non-coding_Transcript|LRRK1_uc010usc.2_Non-coding_Transcript NM_024652 NP_078928 Q38SD2 LRRK1_HUMAN Homo sapiens leucine-rich repeat kinase 1 (LRRK1), mRNA. 700 Roc. small GTPase mediated signal transduction mitochondrion ATP binding|GTP binding|metal ion binding|protein binding|protein serine/threonine kinase activity breast(2)|central_nervous_system(6)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(14)|lung(25)|ovary(4)|prostate(1)|skin(1) 72 Melanoma(26;0.00505)|Lung NSC(78;0.00793)|all_lung(78;0.0094) OV - Ovarian serous cystadenocarcinoma(32;0.000932)|LUSC - Lung squamous cell carcinoma(107;0.187)|Lung(145;0.23) TCTGGGACATCGGGGGACCGG 0.587000 57 36 0 0 0.000270559 0 0 LDB3 11155 broad.mit.edu 37 10 88439896 88439896 + Silent SNP G A A TCGA-BF-A1PZ-01A-11D-A19A-08 TCGA-BF-A1PZ-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6ef799ed-a9fa-4328-95d3-265699e16339 a8458b1d-3040-455b-ae7a-b1ac22b9f2b6 g.chr10:88439896G>A uc001kdv.3 + 2 326 c.303G>A c.(301-303)ccG>ccA p.P101P LDB3_uc010qml.1_Silent_p.P101P|LDB3_uc010qmm.2_Silent_p.P101P|LDB3_uc009xsz.3_5'UTR|LDB3_uc001kdu.3_Silent_p.P101P|LDB3_uc001kdr.3_Silent_p.P101P|LDB3_uc001kdt.3_Non-coding_Transcript|LDB3_uc009xsy.3_Silent_p.P101P|LDB3_uc001kds.3_Silent_p.P101P NM_007078 NP_009009 O75112 LDB3_HUMAN Homo sapiens LIM domain binding 3 (LDB3), transcript variant 1, mRNA. 101 P -> L (in dbSNP:rs45592139). cytoskeleton|perinuclear region of cytoplasm|pseudopodium zinc ion binding breast(1)|endometrium(3)|kidney(2)|large_intestine(5)|lung(9)|ovary(3)|prostate(1)|soft_tissue(1) 25 CCCCTCTGCCGGTGATCCCTC 0.612000 21 14 0 0 0.000308642 0 0 EHHADH 1962 broad.mit.edu 37 3 184910256 184910256 + Missense_Mutation SNP C T T TCGA-BF-A1PZ-01A-11D-A19A-08 TCGA-BF-A1PZ-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6ef799ed-a9fa-4328-95d3-265699e16339 a8458b1d-3040-455b-ae7a-b1ac22b9f2b6 g.chr3:184910256C>T uc003fpf.3 - 6 2006 c.1930G>A c.(1930-1932)Gag>Aag p.E644K EHHADH_uc011brs.2_Missense_Mutation_p.E548K NM_001966 NP_001957 Q08426 ECHP_HUMAN Homo sapiens enoyl-CoA, hydratase/3-hydroxyacyl CoA dehydrogenase (EHHADH), transcript variant 1, mRNA. 644 peroxisome 3-hydroxyacyl-CoA dehydrogenase activity|coenzyme binding|dodecenoyl-CoA delta-isomerase activity|enoyl-CoA hydratase activity p.P643Q(1) breast(1)|endometrium(2)|kidney(2)|large_intestine(2)|lung(9)|ovary(3)|prostate(2)|skin(3) 24 all_cancers(143;4.04e-11)|Ovarian(172;0.0339)|Breast(254;0.247) Epithelial(37;1.98e-32)|OV - Ovarian serous cystadenocarcinoma(80;5.55e-21) NADH(DB00157) TCAATGTGCTCTGGGCTAGCA 0.478000 45 31 0 0 0.000132358 0 0 MAP7 9053 broad.mit.edu 37 6 136667071 136667072 + Missense_Mutation DNP GG AA AA TCGA-BF-A1PZ-01A-11D-A19A-08 TCGA-BF-A1PZ-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6ef799ed-a9fa-4328-95d3-265699e16339 a8458b1d-3040-455b-ae7a-b1ac22b9f2b6 g.chr6:136667071_136667072GG>AA uc011edg.2 - 16 2500_2501 c.2251_2252CC>TT c.(2251-2253)cca>TTa p.P751L MAP7_uc011edf.2_Missense_Mutation_p.P706L|MAP7_uc010kgu.3_Missense_Mutation_p.P743L|MAP7_uc011edh.2_Missense_Mutation_p.P706L|MAP7_uc010kgv.3_Missense_Mutation_p.P743L|MAP7_uc010kgs.3_Missense_Mutation_p.P575L|MAP7_uc011edi.2_Missense_Mutation_p.P575L|MAP7_uc010kgq.2_Missense_Mutation_p.P627L|MAP7_uc003qgz.3_Missense_Mutation_p.P721L|MAP7_uc003qha.2_Missense_Mutation_p.P684L NM_001198609 NP_001185538 Q14244 MAP7_HUMAN Homo sapiens microtubule-associated protein 7 (MAP7), transcript variant 3, mRNA. 721 establishment or maintenance of cell polarity|microtubule cytoskeleton organization|protein localization in plasma membrane|response to osmotic stress basolateral plasma membrane|microtubule|microtubule associated complex|nucleus|perinuclear region of cytoplasm receptor binding|structural molecule activity endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(10)|lung(11)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1) 33 Colorectal(23;0.24) GBM - Glioblastoma multiforme(68;0.00199)|OV - Ovarian serous cystadenocarcinoma(155;0.00643) GGCCAAAATTGGATTCAAAGGA 0.436000 3 12 0 0 6.4e-05 0 0 TBX4 9496 broad.mit.edu 37 17 59557523 59557523 + Silent SNP G A A TCGA-BF-A1PZ-01A-11D-A19A-08 TCGA-BF-A1PZ-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6ef799ed-a9fa-4328-95d3-265699e16339 a8458b1d-3040-455b-ae7a-b1ac22b9f2b6 g.chr17:59557523G>A uc010ddo.3 + 7 1027 c.864G>A c.(862-864)ccG>ccA p.P288P TBX4_uc002izi.3_Silent_p.P288P|TBX4_uc010woy.2_Silent_p.P288P NM_018488 NP_060958 P57082 TBX4_HUMAN Homo sapiens T-box 4 (TBX4), mRNA. 288 leg morphogenesis|skeletal system morphogenesis nucleus DNA binding|sequence-specific DNA binding transcription factor activity p.P288P(2) breast(1)|endometrium(1)|kidney(2)|large_intestine(6)|liver(2)|lung(15)|ovary(4)|prostate(2)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1) 40 CAGCCACACCGGACGTGGGCC 0.637000 39 57 0 0 0.000147903 0 0 HRH1 3269 broad.mit.edu 37 3 11301037 11301037 + Missense_Mutation SNP C T T TCGA-BF-A1PZ-01A-11D-A19A-08 TCGA-BF-A1PZ-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6ef799ed-a9fa-4328-95d3-265699e16339 a8458b1d-3040-455b-ae7a-b1ac22b9f2b6 g.chr3:11301037C>T uc010hdr.3 + 1 656 c.314C>T c.(313-315)tCc>tTc p.S105F HRH1_uc010hds.3_Missense_Mutation_p.S105F|HRH1_uc010hdt.3_Missense_Mutation_p.S105F|HRH1_uc003bwb.4_Missense_Mutation_p.S105F|HRH1_uc021wtb.1_Missense_Mutation_p.S105F NM_001098213 NP_001091683 P35367 HRH1_HUMAN Homo sapiens histamine receptor H1 (HRH1), transcript variant 1, mRNA. 105 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) TTTTGGCTTTCCATGGACTAT 0.542000 92 58 0 0 0.000147903 0 0 ROBO4 54538 broad.mit.edu 37 11 124766432 124766432 + Missense_Mutation SNP C T T TCGA-BF-A1PZ-01A-11D-A19A-08 TCGA-BF-A1PZ-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6ef799ed-a9fa-4328-95d3-265699e16339 a8458b1d-3040-455b-ae7a-b1ac22b9f2b6 g.chr11:124766432C>T uc001qbg.3 - 2 675 c.535G>A c.(535-537)Gcc>Acc p.A179T ROBO4_uc010sas.2_Missense_Mutation_p.A34T|ROBO4_uc001qbh.2_Missense_Mutation_p.A69T|ROBO4_uc001qbi.3_5'Flank|ROBO4_uc010sat.1_5'Flank NM_019055 NP_061928 Q8WZ75 ROBO4_HUMAN Homo sapiens roundabout, axon guidance receptor, homolog 4 (Drosophila) (ROBO4), mRNA. 179 Ig-like C2-type 2. angiogenesis|cell differentiation integral to membrane receptor activity NS(2)|breast(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(11)|lung(42)|ovary(1)|prostate(4)|skin(5)|urinary_tract(3) 76 all_hematologic(175;0.215) Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|Breast(109;0.171)|all_neural(223;0.224) BRCA - Breast invasive adenocarcinoma(274;1.5e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0301) GGCTGGAGGGCCAGGGGTTTC 0.632000 8 44 0 0 0.000147903 0 0 ARHGEF40 55701 broad.mit.edu 37 14 21543272 21543272 + Silent SNP C T T TCGA-BF-A1PZ-01A-11D-A19A-08 TCGA-BF-A1PZ-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6ef799ed-a9fa-4328-95d3-265699e16339 a8458b1d-3040-455b-ae7a-b1ac22b9f2b6 g.chr14:21543272C>T uc001vzp.3 + 2 1412 c.1383C>T c.(1381-1383)gcC>gcT p.A461A ARHGEF40_uc001vzn.1_Silent_p.A461A|ARHGEF40_uc001vzo.1_Intron|ARHGEF40_uc010aij.3_Non-coding_Transcript|ARHGEF40_uc010tln.2_Intron NM_018071 NP_060541 Q8TER5 ARH40_HUMAN Homo sapiens Rho guanine nucleotide exchange factor (GEF) 40 (ARHGEF40), mRNA. 461 regulation of Rho protein signal transduction cytoplasm Rho guanyl-nucleotide exchange factor activity large_intestine(4)|ovary(3)|upper_aerodigestive_tract(2) 9 TCTCTGAAGCCTGTGGGCCTA 0.577000 24 14 0 0 0.000219431 0 0 MAGIX 79917 broad.mit.edu 37 X 49021239 49021239 + Silent SNP G A A TCGA-BF-A1PZ-01A-11D-A19A-08 TCGA-BF-A1PZ-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6ef799ed-a9fa-4328-95d3-265699e16339 a8458b1d-3040-455b-ae7a-b1ac22b9f2b6 g.chrX:49021239G>A uc010nin.1 + 3 365 c.318G>A c.(316-318)ttG>ttA p.L106L MAGIX_uc004dmt.2_Intron|MAGIX_uc010nio.1_Intron|MAGIX_uc004dmu.2_Silent_p.L47L|MAGIX_uc004dmw.2_Intron NM_024859 NP_079135 Q9H6Y5 MAGIX_HUMAN Homo sapiens MAGI family member, X-linked (MAGIX), transcript variant 1, mRNA. 106 CTCCCCAATTGATCCAGGGTA 0.542000 75 47 0 0 0.000147903 0 0 VPS13B 157680 broad.mit.edu 37 8 100866132 100866132 + Silent SNP G A A TCGA-BF-A1PZ-01A-11D-A19A-08 TCGA-BF-A1PZ-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6ef799ed-a9fa-4328-95d3-265699e16339 a8458b1d-3040-455b-ae7a-b1ac22b9f2b6 g.chr8:100866132G>A uc003yiv.3 + 55 10701 c.10590G>A c.(10588-10590)cgG>cgA p.R3530R VPS13B_uc003yiw.3_Silent_p.R3505R NM_017890 NP_060360 Q7Z7G8 VP13B_HUMAN Homo sapiens vacuolar protein sorting 13 homolog B (yeast) (VPS13B), transcript variant 5, mRNA. 3530 protein transport p.R3530W(1)|p.R3530R(1) NS(1)|autonomic_ganglia(1)|breast(6)|central_nervous_system(4)|cervix(3)|endometrium(11)|haematopoietic_and_lymphoid_tissue(4)|kidney(10)|large_intestine(37)|lung(78)|ovary(8)|pancreas(3)|prostate(5)|skin(9)|upper_aerodigestive_tract(4)|urinary_tract(9) 193 Breast(36;3.73e-07) OV - Ovarian serous cystadenocarcinoma(57;0.00636) AACCTGCTCGGTTATACGTGG 0.413000 11 104 0 0 0.000147903 0 0 OR14C36 127066 broad.mit.edu 37 1 248512755 248512755 + Missense_Mutation SNP C T T TCGA-BF-A1PZ-01A-11D-A19A-08 TCGA-BF-A1PZ-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6ef799ed-a9fa-4328-95d3-265699e16339 a8458b1d-3040-455b-ae7a-b1ac22b9f2b6 g.chr1:248512755C>T uc010pzl.2 + 0 679 c.679C>T c.(679-681)Cca>Tca p.P227S NM_001001918 NP_001001918 Q8NHC7 O14CZ_HUMAN Homo sapiens olfactory receptor, family 14, subfamily C, member 36 (OR14C36), mRNA. 227 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity central_nervous_system(1)|endometrium(2)|large_intestine(4)|liver(2)|lung(20)|ovary(2)|prostate(3)|skin(7)|upper_aerodigestive_tract(2) 43 GCTCGGGTTTCCAAGAGGAGC 0.507000 5 55 0 0 0.000147903 0 0 KCNJ8 3764 broad.mit.edu 37 12 21918970 21918970 + Missense_Mutation SNP C T T TCGA-BF-A1PZ-01A-11D-A19A-08 TCGA-BF-A1PZ-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6ef799ed-a9fa-4328-95d3-265699e16339 a8458b1d-3040-455b-ae7a-b1ac22b9f2b6 g.chr12:21918970C>T uc001rff.3 - 2 1300 c.962G>A c.(961-963)gGc>gAc p.G321D NM_004982 NP_004973 Q15842 IRK8_HUMAN Homo sapiens potassium inwardly-rectifying channel, subfamily J, member 8 (KCNJ8), mRNA. 321 voltage-gated potassium channel complex p.W320*(1) cervix(1)|endometrium(1)|kidney(2)|large_intestine(6)|lung(10)|ovary(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(1) 28 Levosimendan(DB00922) AAAGCGGTGGCCCCATTGGAT 0.478000 33 30 0 0 0.00058488 0 0 MAGEB10 139422 broad.mit.edu 37 X 27840402 27840402 + Missense_Mutation SNP C T T TCGA-BF-A1PZ-01A-11D-A19A-08 TCGA-BF-A1PZ-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6ef799ed-a9fa-4328-95d3-265699e16339 a8458b1d-3040-455b-ae7a-b1ac22b9f2b6 g.chrX:27840402C>T uc022bud.1 + 0 979 c.979C>T c.(979-981)Cgc>Tgc p.R327C MAGEB10_uc004dbw.3_Missense_Mutation_p.R327C NM_182506 NP_872312 Q96LZ2 MAGBA_HUMAN Homo sapiens melanoma antigen family B, 10 (MAGEB10), mRNA. 327 NS(1)|breast(2)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(1)|lung(12)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1) 26 AGCCAAGGCTCGCGTTAGTGC 0.483000 16 11 0 0 0.000219431 0 0 ZNF251 90987 broad.mit.edu 37 8 145947433 145947433 + Missense_Mutation SNP G A A TCGA-BF-A1PZ-01A-11D-A19A-08 TCGA-BF-A1PZ-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6ef799ed-a9fa-4328-95d3-265699e16339 a8458b1d-3040-455b-ae7a-b1ac22b9f2b6 g.chr8:145947433G>A uc003zdv.4 - 4 1868 c.1612C>T c.(1612-1614)Ccc>Tcc p.P538S NM_138367 NP_612376 Q9BRH9 ZN251_HUMAN Homo sapiens zinc finger protein 251 (ZNF251), mRNA. 538 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding p.P538P(1) autonomic_ganglia(1)|kidney(1)|large_intestine(5)|lung(9)|stomach(1) 17 all_cancers(97;3.54e-11)|all_epithelial(106;2.65e-10)|Lung NSC(106;4.08e-05)|all_lung(105;0.000125)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155) OV - Ovarian serous cystadenocarcinoma(54;2.75e-39)|Epithelial(56;7.54e-38)|all cancers(56;6.19e-33)|Colorectal(110;0.055)|BRCA - Breast invasive adenocarcinoma(115;0.11) GBM - Glioblastoma multiforme(99;0.198) TCTCCAGTGGGAATCTGTCCA 0.483000 15 90 0 0 0.000147903 0 0 LZTR1 8216 broad.mit.edu 37 22 21343934 21343934 + Missense_Mutation SNP T G G TCGA-BF-A1PZ-01A-11D-A19A-08 TCGA-BF-A1PZ-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6ef799ed-a9fa-4328-95d3-265699e16339 a8458b1d-3040-455b-ae7a-b1ac22b9f2b6 g.chr22:21343934T>G uc002zto.3 + 6 717 c.614T>G c.(613-615)aTt>aGt p.I205S LZTR1_uc002ztn.3_Missense_Mutation_p.I164S|LZTR1_uc011ahy.2_Missense_Mutation_p.I186S|LZTR1_uc010gsr.1_Missense_Mutation_p.I76S NM_006767 NP_006758 Q8N653 LZTR1_HUMAN Homo sapiens leucine-zipper-like transcription regulator 1 (LZTR1), mRNA. 205 anatomical structure morphogenesis sequence-specific DNA binding transcription factor activity breast(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(6)|lung(13)|ovary(3)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(3) 42 all_cancers(11;1.83e-25)|all_epithelial(7;9.19e-23)|Lung NSC(8;3.06e-15)|all_lung(8;5.05e-14)|Melanoma(16;0.000465)|Ovarian(15;0.0028)|Colorectal(54;0.0332)|all_neural(72;0.142) Lung SC(17;0.0262) LUSC - Lung squamous cell carcinoma(15;0.000204)|Lung(15;0.00494)|Epithelial(17;0.195) ATGTGGACAATTGGCCTCCAG 0.647000 8 11 0 0 0.00010058 0 0 ZNF117 51351 broad.mit.edu 37 7 64438953 64438953 + Silent SNP G A A TCGA-BF-A1PZ-01A-11D-A19A-08 TCGA-BF-A1PZ-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6ef799ed-a9fa-4328-95d3-265699e16339 a8458b1d-3040-455b-ae7a-b1ac22b9f2b6 g.chr7:64438953G>A uc003ttr.2 - 3 2281 c.996C>T c.(994-996)ccC>ccT p.P332P NM_015852 NP_056936 Q03924 ZN117_HUMAN Homo sapiens zinc finger protein 117 (ZNF117), mRNA. 332 nucleus DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding breast(1)|central_nervous_system(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|liver(1)|lung(6)|prostate(1)|skin(1) 22 Lung NSC(55;0.0295)|all_lung(88;0.0691) CACATTTGTAGGGTTTCTCTC 0.358000 18 11 0 0 0.00010058 0 0 HMBOX1 79618 broad.mit.edu 37 8 28837649 28837649 + Nonsense_Mutation SNP C T T TCGA-BF-A1PZ-01A-11D-A19A-08 TCGA-BF-A1PZ-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6ef799ed-a9fa-4328-95d3-265699e16339 a8458b1d-3040-455b-ae7a-b1ac22b9f2b6 g.chr8:28837649C>T uc003xhd.4 + 3 904 c.562C>T c.(562-564)Caa>Taa p.Q188* HMBOX1_uc010lvd.3_Nonsense_Mutation_p.Q188*|HMBOX1_uc010lve.3_Non-coding_Transcript|HMBOX1_uc003xhe.3_Nonsense_Mutation_p.Q188*|HMBOX1_uc011lay.2_Nonsense_Mutation_p.Q188*|HMBOX1_uc003xhg.3_Nonsense_Mutation_p.Q176*|HMBOX1_uc003xhf.3_Nonsense_Mutation_p.Q176* NM_001135726 NP_078843 Q6NT76 HMBX1_HUMAN Homo sapiens homeobox containing 1 (HMBOX1), transcript variant 2, mRNA. 188 negative regulation of transcription, DNA-dependent|positive regulation of transcription, DNA-dependent cytoplasm|nucleus sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity cervix(1)|endometrium(5)|kidney(1)|large_intestine(1)|lung(2)|ovary(1) 11 Ovarian(32;0.0192) KIRC - Kidney renal clear cell carcinoma(542;0.135)|Kidney(114;0.161) GAGGATTTCCCAAGCAGTTGT 0.428000 27 150 0 0 0.000147903 0 0 AK311167 0 broad.mit.edu 37 9 69067873 69067873 + RNA SNP A C C TCGA-BF-A1PZ-01A-11D-A19A-08 TCGA-BF-A1PZ-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6ef799ed-a9fa-4328-95d3-265699e16339 a8458b1d-3040-455b-ae7a-b1ac22b9f2b6 g.chr9:69067873A>C uc010mnq.2 + 1 c.471A>C Homo sapiens cDNA, FLJ18209. aagaagaaaaagagcaaagat 0.284000 24 6 0 0 0.000157383 0 0 C2orf44 80304 broad.mit.edu 37 2 24261446 24261446 + Missense_Mutation SNP C T T TCGA-BF-A1PZ-01A-11D-A19A-08 TCGA-BF-A1PZ-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6ef799ed-a9fa-4328-95d3-265699e16339 a8458b1d-3040-455b-ae7a-b1ac22b9f2b6 g.chr2:24261446C>T uc002rep.2 - 1 1050 c.919G>A c.(919-921)Gac>Aac p.D307N C2orf44_uc010eya.2_Missense_Mutation_p.D307N NM_025203 NP_079479 Q9H6R7 CB044_HUMAN Homo sapiens chromosome 2 open reading frame 44 (C2orf44), transcript variant 1, mRNA. 307 protein binding C2orf44/ALK(2) breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(7)|ovary(1)|pancreas(1)|skin(2)|urinary_tract(1) 24 Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215) GTCAAGTAGTCCTTTTTTCTT 0.378000 T ALK NSCLC 29 29 0 0 0.000147802 0 0 MUC1 4582 broad.mit.edu 37 1 155161850 155161850 + Missense_Mutation SNP C T T TCGA-BF-A1PZ-01A-11D-A19A-08 TCGA-BF-A1PZ-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6ef799ed-a9fa-4328-95d3-265699e16339 a8458b1d-3040-455b-ae7a-b1ac22b9f2b6 g.chr1:155161850C>T uc021pap.1 - 1 382 c.310G>A c.(310-312)Gga>Aga p.G104R MUC1_uc001fhz.3_5'Flank|MUC1_uc001fhy.3_5'Flank|MUC1_uc010pfb.2_Intron|MUC1_uc010pfh.2_Intron|MUC1_uc010pff.2_Intron|MUC1_uc010pfi.2_Intron|MUC1_uc010pfj.2_Intron|MUC1_uc010pfk.2_Intron|MUC1_uc010pfl.2_Intron|MUC1_uc010pfc.2_Intron|MUC1_uc009wph.3_Intron|MUC1_uc010pfe.2_Intron|MUC1_uc009wpi.3_Intron|MUC1_uc010pfg.2_Intron|MUC1_uc010pfd.2_Intron|MUC1_uc009wpy.3_Intron|MUC1_uc009wpu.3_Intron|MUC1_uc010pfm.2_Intron|MUC1_uc001fiq.3_Intron|MUC1_uc009wqa.3_Intron|MUC1_uc010pfn.2_Intron|MUC1_uc009wpn.3_Intron|MUC1_uc010pfo.2_Intron|MUC1_uc009wpw.3_Intron|MUC1_uc001fim.3_Intron|MUC1_uc001fil.3_Intron|MUC1_uc010pfp.2_Intron|MUC1_uc001fij.3_Intron|MUC1_uc009wqc.3_Intron|MUC1_uc009wqd.3_Intron|MUC1_uc001fia.3_Intron|MUC1_uc009wqb.3_Intron|MUC1_uc009wpx.3_Intron|MUC1_uc010pfq.2_Intron|MUC1_uc001fid.3_Intron|MUC1_uc001fit.3_Intron|MUC1_uc009wpz.3_Intron|MUC1_uc001fii.3_Intron|MUC1_uc001fik.3_Intron|MUC1_uc009wpo.3_Intron|MUC1_uc010pfr.2_Intron|MUC1_uc001fih.3_Intron|MUC1_uc001fio.3_Intron|MUC1_uc009wqe.3_Intron|MUC1_uc009wpl.3_Intron|MUC1_uc009wpp.3_Intron|MUC1_uc009wpm.3_Intron|MUC1_uc009wpk.3_Intron|MUC1_uc010pfs.2_Intron|MUC1_uc001fip.3_Intron|MUC1_uc021paq.1_Missense_Mutation_p.G95R|MUC1_uc009wqg.3_Intron|MUC1_uc009wqf.3_Intron|MUC1_uc001fic.3_Intron|MUC1_uc009wps.3_Intron|MUC1_uc001fie.3_Intron|MUC1_uc009wpt.3_Intron|MUC1_uc009wpq.3_Intron|MUC1_uc009wpr.3_Intron|MUC1_uc001fig.3_Intron|MUC1_uc001fif.3_Intron|MUC1_uc001fin.3_Intron|MUC1_uc009wpj.3_Intron|MUC1_uc009wpv.3_Intron|MUC1_uc001fib.3_Intron|MUC1_uc001fis.2_Intron|MUC1_uc001fiv.2_Missense_Mutation_p.G104R|MUC1_uc001fiw.2_Missense_Mutation_p.G95R|DM075093_uc021par.1_5'Flank NM_001204286 NP_001191215 P15941 MUC1_HUMAN Homo sapiens mucin 1, cell surface associated (MUC1), transcript variant 10, mRNA. 875 apical plasma membrane|cell surface|cytoplasm|extracellular region|integral to plasma membrane|nucleus protein binding breast(1)|kidney(1)|large_intestine(1)|lung(3)|ovary(1)|pancreas(1)|skin(2) 10 all_epithelial(22;5.72e-28)|all_lung(78;2.07e-24)|all_hematologic(923;0.0359)|Hepatocellular(266;0.0877) Epithelial(20;5.31e-10)|all cancers(21;2.19e-09)|BRCA - Breast invasive adenocarcinoma(34;0.000752)|LUSC - Lung squamous cell carcinoma(543;0.193) ACATCCTGTCCCCAGGTGGCA 0.677000 T IGH@ B-NHL 3 35 0 0 0.000409698 0 0 PDZD9 255762 broad.mit.edu 37 16 21995727 21995728 + Missense_Mutation DNP GG AA AA TCGA-BF-A1PZ-01A-11D-A19A-08 TCGA-BF-A1PZ-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6ef799ed-a9fa-4328-95d3-265699e16339 a8458b1d-3040-455b-ae7a-b1ac22b9f2b6 g.chr16:21995727_21995728GG>AA uc021ter.1 - 2 538_539 c.475_476CC>TT c.(475-477)cct>TTt p.P159F PDZD9_uc002dka.2_Missense_Mutation_p.P157F NM_173806 NP_776167 Q8IXQ8 PDZD9_HUMAN Homo sapiens PDZ domain containing 9 (PDZD9), transcript variant 1, mRNA. 219 breast(3)|endometrium(2)|lung(3)|pancreas(1) 9 GTATGGAGAAGGGGCCCTCACT 0.431000 103 58 0 0 6.4e-05 0 0 C1orf194 127003 broad.mit.edu 37 1 109650609 109650610 + Nonsense_Mutation DNP CC TT TT TCGA-BF-A1PZ-01A-11D-A19A-08 TCGA-BF-A1PZ-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6ef799ed-a9fa-4328-95d3-265699e16339 a8458b1d-3040-455b-ae7a-b1ac22b9f2b6 g.chr1:109650609_109650610CC>TT uc009wev.3 - 1 199_200 c.131_132GG>AA c.(130-132)tgg>tAA p.W44* C1orf194_uc001dwp.4_Intron|C1orf194_uc009wew.3_Nonsense_Mutation_p.W32* NM_001122961 NP_001116433 Q5T5A4 CA194_HUMAN Homo sapiens chromosome 1 open reading frame 194 (C1orf194), mRNA. 44 large_intestine(2)|lung(2)|ovary(2) 6 TGAGCCGACTCCAGGGTTCCTG 0.475000 6 101 0 0 6.4e-05 0 0 AHDC1 27245 broad.mit.edu 37 1 27874405 27874405 + Missense_Mutation SNP A T T TCGA-BF-A1PZ-01A-11D-A19A-08 TCGA-BF-A1PZ-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6ef799ed-a9fa-4328-95d3-265699e16339 a8458b1d-3040-455b-ae7a-b1ac22b9f2b6 g.chr1:27874405A>T uc021ojw.1 - 0 4222 c.4222T>A c.(4222-4224)Ttc>Atc p.F1408I AHDC1_uc009vsy.3_Missense_Mutation_p.F1408I|AHDC1_uc009vsz.1_Missense_Mutation_p.F1408I NM_001029882 NP_001025053 Q5TGY3 AHDC1_HUMAN Homo sapiens AT hook, DNA binding motif, containing 1 (AHDC1), mRNA. 1408 DNA binding breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(3)|large_intestine(8)|lung(20)|prostate(1)|skin(3)|upper_aerodigestive_tract(2) 42 all_lung(284;1.06e-05)|Lung NSC(340;1.86e-05)|Colorectal(325;3.46e-05)|Renal(390;0.0007)|Breast(348;0.0021)|Ovarian(437;0.00503)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0381) UCEC - Uterine corpus endometrioid carcinoma (279;0.0434)|OV - Ovarian serous cystadenocarcinoma(117;8.48e-25)|Colorectal(126;9.17e-09)|COAD - Colon adenocarcinoma(152;1.84e-06)|KIRC - Kidney renal clear cell carcinoma(1967;0.00192)|BRCA - Breast invasive adenocarcinoma(304;0.00259)|STAD - Stomach adenocarcinoma(196;0.00311)|READ - Rectum adenocarcinoma(331;0.0291) TCTTCCTTGAAGCCCAGTGTA 0.667000 6 27 0 0 0.000184323 0 0 ATP13A4 84239 broad.mit.edu 37 3 193210912 193210912 + Nonsense_Mutation SNP C T T TCGA-BF-A1PZ-01A-11D-A19A-08 TCGA-BF-A1PZ-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6ef799ed-a9fa-4328-95d3-265699e16339 a8458b1d-3040-455b-ae7a-b1ac22b9f2b6 g.chr3:193210912C>T uc003ftd.3 - 3 527 c.419G>A c.(418-420)tGg>tAg p.W140* ATP13A4_uc003fte.1_Nonsense_Mutation_p.W140*|ATP13A4_uc011bsr.1_5'UTR NM_032279 NP_115655 Q4VNC1 AT134_HUMAN Homo sapiens ATPase type 13A4 (ATP13A4), mRNA. 140 ATP biosynthetic process|cation transport integral to membrane ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|metal ion binding breast(2)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(9)|lung(27)|ovary(2)|prostate(3)|skin(11)|upper_aerodigestive_tract(2) 71 all_cancers(143;1.76e-08)|Ovarian(172;0.0386) OV - Ovarian serous cystadenocarcinoma(49;2.72e-18)|LUSC - Lung squamous cell carcinoma(58;3.55e-06)|Lung(62;4.19e-06) GBM - Glioblastoma multiforme(46;0.000109) TAAGTAGTTCCAAACATATCT 0.333000 43 29 0 0 0.000159656 0 0 ANKS6 203286 broad.mit.edu 37 9 101536204 101536204 + Silent SNP C T T TCGA-BF-A1PZ-01A-11D-A19A-08 TCGA-BF-A1PZ-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6ef799ed-a9fa-4328-95d3-265699e16339 a8458b1d-3040-455b-ae7a-b1ac22b9f2b6 g.chr9:101536204C>T uc004ayu.3 - 8 1797 c.1776G>A c.(1774-1776)caG>caA p.Q592Q ANKS6_uc004ayv.2_Silent_p.Q54Q|ANKS6_uc004ayx.2_Non-coding_Transcript|ANKS6_uc004ayy.2_Non-coding_Transcript|ANKS6_uc004ayt.3_Silent_p.Q291Q NM_173551 NP_775822 Q68DC2 ANKS6_HUMAN Homo sapiens ankyrin repeat and sterile alpha motif domain containing 6 (ANKS6), mRNA. 592 endometrium(3)|large_intestine(6)|lung(6)|ovary(2)|pancreas(1)|prostate(2)|skin(1) 21 Acute lymphoblastic leukemia(62;0.0527) TGCTGGCTCTCTGGGGCAGCG 0.597000 16 12 0 0 0.000219431 0 0 F8 2157 broad.mit.edu 37 X 154091474 154091475 + Missense_Mutation DNP CC AA AA TCGA-BF-A1PZ-01A-11D-A19A-08 TCGA-BF-A1PZ-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6ef799ed-a9fa-4328-95d3-265699e16339 a8458b1d-3040-455b-ae7a-b1ac22b9f2b6 g.chrX:154091474_154091475CC>AA uc004fmt.3 - 22 6628_6629 c.6457_6458GG>TT c.(6457-6459)ggg>TTg p.G2153L F8_uc004fms.3_Missense_Mutation_p.G18L NM_000132 NP_000123 P00451 FA8_HUMAN Homo sapiens coagulation factor VIII, procoagulant component (F8), transcript variant 1, mRNA. 2153 F5/8 type C 1. acute-phase response|blood coagulation, intrinsic pathway|cell adhesion|platelet activation|platelet degranulation extracellular space|plasma membrane|platelet alpha granule lumen copper ion binding|oxidoreductase activity|protein binding NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(3)|kidney(6)|large_intestine(27)|liver(1)|lung(47)|ovary(5)|pancreas(3)|prostate(1)|skin(5)|upper_aerodigestive_tract(5)|urinary_tract(2) 120 all_cancers(53;7.19e-17)|all_epithelial(53;9.83e-11)|all_lung(58;6.63e-07)|Lung NSC(58;2.08e-06)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176)|Renal(33;0.214) Antihemophilic Factor(DB00025)|Coagulation Factor IX(DB00100)|Drotrecogin alfa(DB00055) GTGTTTTATCCCAGATGAATCC 0.381000 79 7 0 0 6.4e-05 0 0 SEMA4C 54910 broad.mit.edu 37 2 97529814 97529814 + Silent SNP G A A TCGA-BF-A1PZ-01A-11D-A19A-08 TCGA-BF-A1PZ-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6ef799ed-a9fa-4328-95d3-265699e16339 a8458b1d-3040-455b-ae7a-b1ac22b9f2b6 g.chr2:97529814G>A uc002sxg.4 - 8 1569 c.1338C>T c.(1336-1338)ttC>ttT p.F446F SEMA4C_uc002sxf.4_5'Flank|SEMA4C_uc002sxe.3_5'Flank|SEMA4C_uc002sxh.4_Silent_p.F393F NM_017789 NP_060259 Q9C0C4 SEM4C_HUMAN Homo sapiens sema domain, immunoglobulin domain (Ig), transmembrane domain (TM) and short cytoplasmic domain, (semaphorin) 4C (SEMA4C), mRNA. 393 Dominant negative effect on myogenic differentiation (By similarity).|Sema. muscle cell differentiation|nervous system development|positive regulation of stress-activated MAPK cascade cell junction|integral to membrane|postsynaptic density|postsynaptic membrane|synaptic vesicle membrane receptor activity NS(1)|kidney(1)|lung(8)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2) 17 GCTTCTTGACGAAGTTGAGGA 0.647000 14 11 0 0 0.00010058 0 0 RASGRP1 10125 broad.mit.edu 37 15 38793488 38793488 + Splice_Site SNP C T T TCGA-BF-A1PZ-01A-11D-A19A-08 TCGA-BF-A1PZ-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6ef799ed-a9fa-4328-95d3-265699e16339 a8458b1d-3040-455b-ae7a-b1ac22b9f2b6 g.chr15:38793488C>T uc001zke.4 - 13 1717 c.1539_splice c.e13-1 p.R513_splice RASGRP1_uc010bbe.3_Intron|RASGRP1_uc010bbf.3_Splice_Site_p.R340_splice|RASGRP1_uc010bbg.3_Splice_Site_p.R340_splice|RASGRP1_uc001zkd.4_Splice_Site_p.R478_splice NM_005739 NP_005730 O95267 GRP1_HUMAN Homo sapiens RAS guanyl releasing protein 1 (calcium and DAG-regulated) (RASGRP1), transcript variant 1, mRNA. 513 EF-hand 2. Ras protein signal transduction|cell differentiation|platelet activation|regulation of small GTPase mediated signal transduction Golgi membrane|cytosol|endoplasmic reticulum membrane|membrane fraction|plasma membrane calcium ion binding|guanyl-nucleotide exchange factor activity|lipid binding|protein binding breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(8)|lung(2)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 20 all_cancers(109;6.38e-17)|all_epithelial(112;5.51e-15)|Lung NSC(122;2.12e-11)|all_lung(180;5.63e-10)|Melanoma(134;0.0574) GBM - Glioblastoma multiforme(113;1.97e-07)|BRCA - Breast invasive adenocarcinoma(123;0.00248) TGAGGCCTTCCCTGCCGGCAG 0.522000 23 14 0 0 0.000566183 0 0 TMEM39A 55254 broad.mit.edu 37 3 119165876 119165876 + Silent SNP G A A TCGA-BF-A1PZ-01A-11D-A19A-08 TCGA-BF-A1PZ-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6ef799ed-a9fa-4328-95d3-265699e16339 a8458b1d-3040-455b-ae7a-b1ac22b9f2b6 g.chr3:119165876G>A uc003eck.1 - 4 927 c.564C>T c.(562-564)ttC>ttT p.F188F TMEM39A_uc003ecl.1_Silent_p.F36F NM_018266 NP_060736 Q9NV64 TM39A_HUMAN Homo sapiens transmembrane protein 39A (TMEM39A), mRNA. 188 integral to membrane NS(1)|breast(1)|endometrium(1)|large_intestine(2)|lung(5)|ovary(2)|skin(1) 13 GBM - Glioblastoma multiforme(114;0.244) GGTAGCCAAGGAAAAGGAGAT 0.393000 15 20 0 0 0.000295444 0 0 UGT2B4 7363 broad.mit.edu 37 4 70359506 70359506 + Nonsense_Mutation SNP G A A TCGA-BF-A1PZ-01A-11D-A19A-08 TCGA-BF-A1PZ-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6ef799ed-a9fa-4328-95d3-265699e16339 a8458b1d-3040-455b-ae7a-b1ac22b9f2b6 g.chr4:70359506G>A uc003hek.4 - 1 822 c.775C>T c.(775-777)Cga>Tga p.R259* UGT2B4_uc011cap.2_Nonsense_Mutation_p.R123*|UGT2B4_uc003hel.4_Nonsense_Mutation_p.R259* NM_021139 NP_066962 P06133 UD2B4_HUMAN Homo sapiens UDP glucuronosyltransferase 2 family, polypeptide B4 (UGT2B4), mRNA. 259 estrogen catabolic process|xenobiotic metabolic process endoplasmic reticulum membrane|integral to membrane|microsome glucuronosyltransferase activity autonomic_ganglia(1)|breast(1)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(29)|prostate(1)|skin(4)|upper_aerodigestive_tract(1) 47 CAGTAGTTTCGAATAAGCCAT 0.413000 5 27 0 0 0.000117367 0 0 GPD1 2819 broad.mit.edu 37 12 50500638 50500639 + Missense_Mutation DNP CC TT TT TCGA-BF-A1PZ-01A-11D-A19A-08 TCGA-BF-A1PZ-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6ef799ed-a9fa-4328-95d3-265699e16339 a8458b1d-3040-455b-ae7a-b1ac22b9f2b6 g.chr12:50500638_50500639CC>TT uc001rvz.3 + 4 583_584 c.550_551CC>TT c.(550-552)cca>TTa p.P184L GPD1_uc001rwa.3_Missense_Mutation_p.P161L NM_005276 NP_005267 P21695 GPDA_HUMAN Homo sapiens glycerol-3-phosphate dehydrogenase 1 (soluble) (GPD1), mRNA. 184 glycerol-3-phosphate catabolic process|triglyceride biosynthetic process cytosol|glycerol-3-phosphate dehydrogenase complex glycerol-3-phosphate dehydrogenase|protein homodimerization activity breast(1)|endometrium(1)|large_intestine(1)|lung(3)|prostate(1)|upper_aerodigestive_tract(1) 8 NADH(DB00157) GATGCAGACACCAAACTTCCGT 0.530000 22 18 0 0 6.4e-05 0 0 ILF2 3608 broad.mit.edu 37 1 153640109 153640110 + Nonsense_Mutation DNP CC AA AA TCGA-BF-A1PZ-01A-11D-A19A-08 TCGA-BF-A1PZ-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6ef799ed-a9fa-4328-95d3-265699e16339 a8458b1d-3040-455b-ae7a-b1ac22b9f2b6 g.chr1:153640109_153640110CC>AA uc001fcr.3 - 5 396_397 c.315_316GG>TT c.(313-318)gtggga>gtTTga p.G106* ILF2_uc010pdy.2_Nonsense_Mutation_p.G68*|ILF2_uc009wol.1_Nonsense_Mutation_p.G68* NM_004515 NP_004506 Q12905 ILF2_HUMAN Homo sapiens interleukin enhancer binding factor 2, 45kDa (ILF2), mRNA. 106 DZF. immune response|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent cytoplasm|nucleolus|ribonucleoprotein complex ATP binding|DNA binding|double-stranded RNA binding|protein binding|transferase activity p.V105V(2) cervix(1)|kidney(1)|lung(4)|skin(1) 7 all_lung(78;1.84e-32)|Lung NSC(65;6.67e-31)|Hepatocellular(266;0.0877)|Melanoma(130;0.199) LUSC - Lung squamous cell carcinoma(543;0.171) TTATAGGATCCCACCTGTCGAA 0.446000 375 10 0 0 6.4e-05 0 0 IL17RA 23765 broad.mit.edu 37 22 17583071 17583071 + Missense_Mutation SNP C T T TCGA-BF-A1PZ-01A-11D-A19A-08 TCGA-BF-A1PZ-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6ef799ed-a9fa-4328-95d3-265699e16339 a8458b1d-3040-455b-ae7a-b1ac22b9f2b6 g.chr22:17583071C>T uc002zly.3 + 6 772 c.641C>T c.(640-642)gCc>gTc p.A214V NM_014339 NP_055154 Q96F46 I17RA_HUMAN Homo sapiens interleukin 17 receptor A (IL17RA), mRNA. 214 fibroblast activation|positive regulation of interleukin-23 production integral to plasma membrane interleukin-17 receptor activity endometrium(2)|large_intestine(8)|lung(16)|ovary(1)|skin(2)|stomach(1) 30 all_epithelial(15;0.0181)|Lung NSC(13;0.109)|all_lung(157;0.132) Colorectal(9;0.241) ACCCTGGAGGCCCACCAGCTG 0.587000 34 21 0 0 0.000295444 0 0 OR13F1 138805 broad.mit.edu 37 9 107266590 107266590 + Missense_Mutation SNP G A A rs138844331 TCGA-BF-A1PZ-01A-11D-A19A-08 TCGA-BF-A1PZ-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6ef799ed-a9fa-4328-95d3-265699e16339 a8458b1d-3040-455b-ae7a-b1ac22b9f2b6 g.chr9:107266590G>A uc011lvm.2 + 0 47 c.47G>A c.(46-48)gGa>gAa p.G16E NM_001004485 NP_001004485 Q8NGS4 O13F1_HUMAN Homo sapiens olfactory receptor, family 13, subfamily F, member 1 (OR13F1), mRNA. 16 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity p.G16V(2)|p.G16E(2) endometrium(3)|large_intestine(6)|lung(17)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1) 31 TTCTTCCTGGGATTTTTTCAC 0.403000 38 17 0 0 7.07596e-05 0 0 DYRK1A 1859 broad.mit.edu 37 21 38884820 38884820 + Missense_Mutation SNP G A A TCGA-BF-A1PZ-01A-11D-A19A-08 TCGA-BF-A1PZ-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6ef799ed-a9fa-4328-95d3-265699e16339 a8458b1d-3040-455b-ae7a-b1ac22b9f2b6 g.chr21:38884820G>A uc002ywk.3 + 10 2354 c.2278G>A c.(2278-2280)Gta>Ata p.V760I DYRK1A_uc002ywi.3_3'UTR|DYRK1A_uc002ywj.3_Missense_Mutation_p.V751I|DYRK1A_uc002ywm.3_3'UTR|DYRK1A_uc011aei.2_Missense_Mutation_p.V521I NM_001396 NP_001387 Q13627 DYR1A_HUMAN Homo sapiens dual-specificity tyrosine-(Y)-phosphorylation regulated kinase 1A (DYRK1A), transcript variant 1, mRNA. 760 nervous system development|peptidyl-tyrosine phosphorylation|protein autophosphorylation nuclear speck ATP binding|non-membrane spanning protein tyrosine kinase activity|protein binding|protein self-association|protein serine/threonine kinase activity breast(4)|cervix(1)|endometrium(7)|kidney(2)|large_intestine(5)|lung(10)|ovary(3)|pancreas(1)|prostate(3)|skin(1)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1) 42 ACAGAGTCCTGTAGCTAGCTC 0.423000 42 36 0 0 0.000319135 0 0 CENPF 1063 broad.mit.edu 37 1 214813330 214813331 + Nonsense_Mutation DNP CC AA AA TCGA-BF-A1PZ-01A-11D-A19A-08 TCGA-BF-A1PZ-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6ef799ed-a9fa-4328-95d3-265699e16339 a8458b1d-3040-455b-ae7a-b1ac22b9f2b6 g.chr1:214813330_214813331CC>AA uc001hkm.3 + 11 1823_1824 c.1649_1650CC>AA c.(1648-1650)tcc>tAA p.S550* NM_016343 NP_057427 P49454 CENPF_HUMAN Homo sapiens centromere protein F, 350/400kDa (mitosin) (CENPF), mRNA. 550 DNA replication|G2 phase of mitotic cell cycle|cell differentiation|cell division|cell proliferation|kinetochore assembly|metaphase plate congression|mitotic cell cycle spindle assembly checkpoint|mitotic prometaphase|muscle organ development|negative regulation of transcription, DNA-dependent|protein transport|regulation of G2/M transition of mitotic cell cycle|regulation of striated muscle tissue development|response to drug condensed chromosome outer kinetochore|cytosol|midbody|nuclear envelope|nuclear matrix|perinuclear region of cytoplasm|spindle pole chromatin binding|dynein binding|protein C-terminus binding|protein homodimerization activity|transcription factor binding NS(2)|breast(2)|central_nervous_system(4)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(37)|lung(47)|ovary(7)|prostate(3)|skin(6)|stomach(1)|urinary_tract(1) 126 all cancers(67;0.00836)|OV - Ovarian serous cystadenocarcinoma(81;0.00855)|GBM - Glioblastoma multiforme(131;0.0694)|Epithelial(68;0.0833) CAAGAAAACTCCTTGACTTTAG 0.347000 391 12 0 0 6.4e-05 0 0 SPHKAP 80309 broad.mit.edu 37 2 228882461 228882461 + Missense_Mutation SNP G A A TCGA-BF-A1PZ-01A-11D-A19A-08 TCGA-BF-A1PZ-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6ef799ed-a9fa-4328-95d3-265699e16339 a8458b1d-3040-455b-ae7a-b1ac22b9f2b6 g.chr2:228882461G>A uc002vpq.2 - 6 3156 c.3109C>T c.(3109-3111)Ctt>Ttt p.L1037F SPHKAP_uc002vpp.2_Missense_Mutation_p.L1037F|SPHKAP_uc010zlx.1_Missense_Mutation_p.L1037F NM_001142644 NP_001136116 Q2M3C7 SPKAP_HUMAN Homo sapiens SPHK1 interactor, AKAP domain containing (SPHKAP), transcript variant 1, mRNA. 1037 cytoplasm protein binding NS(5)|breast(5)|central_nervous_system(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(3)|kidney(12)|large_intestine(25)|lung(86)|ovary(6)|pancreas(1)|prostate(6)|skin(17)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1) 185 Renal(207;0.025)|all_hematologic(139;0.15)|all_lung(227;0.204)|Acute lymphoblastic leukemia(138;0.205)|Esophageal squamous(248;0.23) Epithelial(121;8.17e-11)|all cancers(144;7.92e-08)|Lung(261;0.0168)|LUSC - Lung squamous cell carcinoma(224;0.0232) TTGGCAAAAAGATTGACAGAA 0.502000 49 50 0 0 0.000147903 0 0 ALS2CR11 151254 broad.mit.edu 37 2 202446936 202446936 + Missense_Mutation SNP G A A TCGA-BF-A1PZ-01A-11D-A19A-08 TCGA-BF-A1PZ-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6ef799ed-a9fa-4328-95d3-265699e16339 a8458b1d-3040-455b-ae7a-b1ac22b9f2b6 g.chr2:202446936G>A uc002uyf.3 - 4 573 c.521C>T c.(520-522)cCc>cTc p.P174L ALS2CR11_uc002uye.3_Missense_Mutation_p.P174L|ALS2CR11_uc010fti.3_Missense_Mutation_p.P174L|ALS2CR11_uc021vvc.1_Missense_Mutation_p.P174L NM_001168221 NP_001161693 Q53TS8 AL2SA_HUMAN Homo sapiens amyotrophic lateral sclerosis 2 (juvenile) chromosome region, candidate 11 (ALS2CR11), transcript variant 1, mRNA. 174 NS(1)|breast(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(10)|lung(11)|ovary(1)|skin(5)|urinary_tract(3) 33 ATAACGTCTGGGAACCTCAAT 0.289000 87 62 0 0 0.000147903 0 0 FBXL18 80028 broad.mit.edu 37 7 5540613 5540613 + Silent SNP C T T TCGA-BF-A1PZ-01A-11D-A19A-08 TCGA-BF-A1PZ-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6ef799ed-a9fa-4328-95d3-265699e16339 a8458b1d-3040-455b-ae7a-b1ac22b9f2b6 g.chr7:5540613C>T uc003soo.2 - 2 1381 c.1287G>A c.(1285-1287)gcG>gcA p.A429A FBXL18_uc003son.4_Silent_p.A429A NM_024963 NP_079239 Q96ME1 FXL18_HUMAN Homo sapiens F-box and leucine-rich repeat protein 18 (FBXL18), mRNA. 429 p.S428S(1) FBXL18/RNF216(2) central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(10)|ovary(3) 21 Ovarian(82;0.0607) UCEC - Uterine corpus endometrioid carcinoma (126;0.181)|OV - Ovarian serous cystadenocarcinoma(56;3.64e-13) cggcgcgcggcgcggAGTCAG 0.736000 9 5 0 0 0.000602214 0 0 KIF16B 55614 broad.mit.edu 37 20 16360709 16360709 + Silent SNP G A A TCGA-BF-A1PZ-01A-11D-A19A-08 TCGA-BF-A1PZ-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6ef799ed-a9fa-4328-95d3-265699e16339 a8458b1d-3040-455b-ae7a-b1ac22b9f2b6 g.chr20:16360709G>A uc002wpg.2 - 18 2097 c.1938C>T c.(1936-1938)atC>atT p.I646I KIF16B_uc002wpe.1_Silent_p.I28I|KIF16B_uc002wpf.1_Silent_p.I28I|KIF16B_uc010gch.2_Silent_p.I646I|KIF16B_uc010gci.2_Silent_p.I646I|KIF16B_uc010gcj.2_Silent_p.I657I NM_024704 NP_078980 Q96L93 KI16B_HUMAN Homo sapiens kinesin family member 16B (KIF16B), transcript variant 2, mRNA. 646 Glu-rich. Golgi to endosome transport|cell communication|early endosome to late endosome transport|endoderm development|epidermal growth factor receptor signaling pathway|fibroblast growth factor receptor signaling pathway|formation of primary germ layer|microtubule-based movement|receptor catabolic process|regulation of receptor recycling early endosome membrane|microtubule ATP binding|phosphatidylinositol-3,4,5-trisphosphate binding|phosphatidylinositol-3,4-bisphosphate binding|phosphatidylinositol-3,5-bisphosphate binding|phosphatidylinositol-3-phosphate binding|plus-end-directed microtubule motor activity NS(2)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(6)|large_intestine(15)|lung(24)|ovary(1)|prostate(15)|skin(3)|upper_aerodigestive_tract(2) 74 GGAGCTGCACGATTTCTGTCT 0.502000 93 73 0 0 0.000147903 0 0 ZNF335 63925 broad.mit.edu 37 20 44587939 44587939 + Silent SNP G A A TCGA-BF-A1PZ-01A-11D-A19A-08 TCGA-BF-A1PZ-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6ef799ed-a9fa-4328-95d3-265699e16339 a8458b1d-3040-455b-ae7a-b1ac22b9f2b6 g.chr20:44587939G>A uc002xqw.3 - 14 2277 c.2154C>T c.(2152-2154)tcC>tcT p.S718S ZNF335_uc010zxk.2_Silent_p.S563S NM_022095 NP_071378 Q9H4Z2 ZN335_HUMAN Homo sapiens zinc finger protein 335 (ZNF335), mRNA. 718 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding NS(1)|breast(2)|endometrium(3)|kidney(1)|large_intestine(13)|lung(17)|ovary(2)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3) 51 Myeloproliferative disorder(115;0.0122) GGCGACGGCGGGAGGGGGGCT 0.657000 27 28 0 0 0.000147802 0 0 SEC22C 9117 broad.mit.edu 37 3 42610483 42610483 + Missense_Mutation SNP G A A TCGA-BF-A1PZ-01A-11D-A19A-08 TCGA-BF-A1PZ-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6ef799ed-a9fa-4328-95d3-265699e16339 a8458b1d-3040-455b-ae7a-b1ac22b9f2b6 g.chr3:42610483G>A uc003clj.3 - 1 266 c.56C>T c.(55-57)tCa>tTa p.S19L SEC22C_uc003clh.3_Missense_Mutation_p.S19L|SEC22C_uc010hic.3_Missense_Mutation_p.S19L|SEC22C_uc011azo.2_5'UTR|SEC22C_uc003cli.3_Missense_Mutation_p.S19L NM_032970 NP_116752 Q9BRL7 SC22C_HUMAN Homo sapiens SEC22 vesicle trafficking protein homolog C (S. cerevisiae) (SEC22C), transcript variant 1, mRNA. 19 Longin. ER to Golgi vesicle-mediated transport|protein transport endoplasmic reticulum membrane|integral to membrane endometrium(1)|large_intestine(2) 3 KIRC - Kidney renal clear cell carcinoma(284;0.222) AGTAGAGGCTGAGAGGGGCAG 0.512000 21 10 0 0 0.000442599 0 0 LYPD1 116372 broad.mit.edu 37 2 133426022 133426022 + Silent SNP C A A TCGA-BF-A1PZ-01A-11D-A19A-08 TCGA-BF-A1PZ-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6ef799ed-a9fa-4328-95d3-265699e16339 a8458b1d-3040-455b-ae7a-b1ac22b9f2b6 g.chr2:133426022C>A uc002ttm.4 - 2 289 c.189G>T c.(187-189)acG>acT p.T63T LYPD1_uc002ttn.3_Silent_p.T47T|LYPD1_uc002tto.3_5'UTR NM_001077427 NP_001070895 Q8N2G4 LYPD1_HUMAN Homo sapiens LY6/PLAUR domain containing 1 (LYPD1), transcript variant 2, mRNA. 47 UPAR/Ly6. anchored to membrane|plasma membrane lung(2) 2 GAACGTTCACCGTGCAATTCA 0.547000 50 6 0.000442599 0.00721301 0.000442599 1 0 NOVA2 4858 broad.mit.edu 37 19 46444131 46444131 + Missense_Mutation SNP T C C TCGA-BF-A1PZ-01A-11D-A19A-08 TCGA-BF-A1PZ-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6ef799ed-a9fa-4328-95d3-265699e16339 a8458b1d-3040-455b-ae7a-b1ac22b9f2b6 g.chr19:46444131T>C uc002pdv.2 - 3 517 c.469A>G c.(469-471)Atg>Gtg p.M157V NM_002516 NP_002507 Q9UNW9 NOVA2_HUMAN Homo sapiens neuro-oncological ventral antigen 2 (NOVA2), mRNA. 157 KH 2. nucleus RNA binding p.V156M(1) endometrium(3)|large_intestine(5)|lung(13) 21 all_neural(266;0.113)|Ovarian(192;0.127) OV - Ovarian serous cystadenocarcinoma(262;0.00245)|GBM - Glioblastoma multiforme(486;0.0782)|Epithelial(262;0.179) GACTGTTCCATCACGGCTTTC 0.652000 13 10 0 0 6.40141e-05 0 0 PIK3R4 30849 broad.mit.edu 37 3 130405201 130405201 + Missense_Mutation SNP G A A TCGA-BF-A1PZ-01A-11D-A19A-08 TCGA-BF-A1PZ-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6ef799ed-a9fa-4328-95d3-265699e16339 a8458b1d-3040-455b-ae7a-b1ac22b9f2b6 g.chr3:130405201G>A uc003enj.3 - 14 3910 c.3329C>T c.(3328-3330)tCt>tTt p.S1110F NM_014602 NP_055417 Q99570 PI3R4_HUMAN Homo sapiens phosphoinositide-3-kinase, regulatory subunit 4 (PIK3R4), mRNA. 1110 fibroblast growth factor receptor signaling pathway|innate immune response|insulin receptor signaling pathway cytosol ATP binding|protein binding|protein serine/threonine kinase activity NS(1)|breast(3)|central_nervous_system(1)|endometrium(6)|kidney(6)|large_intestine(16)|lung(28)|ovary(6)|pancreas(1)|prostate(2)|skin(5)|stomach(1)|urinary_tract(1) 77 GGCAAGAACAGACTGTGCTCC 0.468000 21 11 0 0 0.00010058 0 0 ZMAT1 84460 broad.mit.edu 37 X 101139401 101139401 + Missense_Mutation SNP G A A TCGA-BF-A1PZ-01A-11D-A19A-08 TCGA-BF-A1PZ-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6ef799ed-a9fa-4328-95d3-265699e16339 a8458b1d-3040-455b-ae7a-b1ac22b9f2b6 g.chrX:101139401G>A uc011mrl.2 - 6 1348 c.998C>T c.(997-999)tCt>tTt p.S333F ZMAT1_uc004eim.3_Missense_Mutation_p.S162F|ZMAT1_uc004ein.3_Missense_Mutation_p.S162F|ZMAT1_uc011mrm.2_Missense_Mutation_p.S162F NM_001011657 NP_001011657 A7MD47 A7MD47_HUMAN Homo sapiens zinc finger, matrin-type 1 (ZMAT1), transcript variant 1, mRNA. 162 nucleus zinc ion binding p.Q333H(1) endometrium(3)|kidney(2)|large_intestine(6)|lung(6)|ovary(1)|prostate(1)|skin(1)|urinary_tract(2) 22 AGTATCCACAGAGTTCTCTCT 0.413000 8 20 0 0 0.000295444 0 0 OR5AU1 390445 broad.mit.edu 37 14 21623315 21623315 + Silent SNP G A A TCGA-BF-A1PZ-01A-11D-A19A-08 TCGA-BF-A1PZ-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6ef799ed-a9fa-4328-95d3-265699e16339 a8458b1d-3040-455b-ae7a-b1ac22b9f2b6 g.chr14:21623315G>A uc010tlp.2 - 0 870 c.870C>T c.(868-870)tcC>tcT p.S290S NM_001004731 NP_001004731 Q8NGC0 O5AU1_HUMAN Homo sapiens olfactory receptor, family 5, subfamily AU, member 1 (OR5AU1), mRNA. 290 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(12)|pancreas(1) 21 all_cancers(95;0.00238) Epithelial(56;6.88e-07)|all cancers(55;6.02e-06) GBM - Glioblastoma multiforme(265;0.0192) ATGCACAGGTGGAAAATGCCT 0.517000 16 10 0 0 0.000442599 0 0 PCDHB2 56133 broad.mit.edu 37 5 140474589 140474589 + Missense_Mutation SNP G A A TCGA-BF-A1PZ-01A-11D-A19A-08 TCGA-BF-A1PZ-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6ef799ed-a9fa-4328-95d3-265699e16339 a8458b1d-3040-455b-ae7a-b1ac22b9f2b6 g.chr5:140474589G>A uc003lil.3 + 0 353 c.215G>A c.(214-216)gGa>gAa p.G72E PCDHB2_uc003lim.1_Intron NM_018936 NP_061759 Q9Y5E7 PCDB2_HUMAN Homo sapiens protocadherin beta 2 (PCDHB2), mRNA. 72 Cadherin 1. calcium-dependent cell-cell adhesion|homophilic cell adhesion|synapse assembly|synaptic transmission integral to plasma membrane calcium ion binding NS(1)|breast(1)|endometrium(3)|kidney(1)|large_intestine(22)|lung(24)|ovary(3)|pancreas(1)|prostate(3)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(2) 71 KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339) GTTTCCAAAGGAAAAAAAATG 0.522000 7 61 0 0 0.000147903 0 0 CACNA2D1 781 broad.mit.edu 37 7 81600048 81600048 + Missense_Mutation SNP C T T TCGA-BF-A1PZ-01A-11D-A19A-08 TCGA-BF-A1PZ-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6ef799ed-a9fa-4328-95d3-265699e16339 a8458b1d-3040-455b-ae7a-b1ac22b9f2b6 g.chr7:81600048C>T uc003uhr.1 - 26 2403 c.2147G>A c.(2146-2148)gGa>gAa p.G716E CACNA2D1_uc011kgy.1_5'UTR NM_000722 NP_000713 P54289 CA2D1_HUMAN Homo sapiens calcium channel, voltage-dependent, alpha 2/delta subunit 1 (CACNA2D1), mRNA. 728 voltage-gated calcium channel complex metal ion binding breast(2)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(15)|liver(1)|lung(42)|ovary(6)|pancreas(1)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 81 Felodipine(DB01023)|Gabapentin(DB00996)|Ibutilide(DB00308)|Isradipine(DB00270)|Magnesium Sulfate(DB00653)|Nifedipine(DB01115) TGCTTTCACTCCCTTGCTGAA 0.338000 23 17 0 0 9.7654e-05 0 0 DLGAP3 58512 broad.mit.edu 37 1 35350619 35350619 + Missense_Mutation SNP C T T TCGA-BF-A1PZ-01A-11D-A19A-08 TCGA-BF-A1PZ-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6ef799ed-a9fa-4328-95d3-265699e16339 a8458b1d-3040-455b-ae7a-b1ac22b9f2b6 g.chr1:35350619C>T uc001byc.3 - 5 1960 c.1960G>A c.(1960-1962)Gag>Aag p.E654K NM_001080418 NP_001073887 O95886 DLGP3_HUMAN Homo sapiens discs, large (Drosophila) homolog-associated protein 3 (DLGAP3), mRNA. 654 cell-cell signaling cell junction|postsynaptic density|postsynaptic membrane central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(6)|lung(23)|ovary(4)|prostate(3)|skin(3)|urinary_tract(1) 46 Myeloproliferative disorder(586;0.0393) GAGTGGAACTCCCTCCGGCTC 0.602000 4 39 0 0 0.000147903 0 0 ZNF592 9640 broad.mit.edu 37 15 85326620 85326620 + Silent SNP C T T TCGA-BF-A1PZ-01A-11D-A19A-08 TCGA-BF-A1PZ-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6ef799ed-a9fa-4328-95d3-265699e16339 a8458b1d-3040-455b-ae7a-b1ac22b9f2b6 g.chr15:85326620C>T uc002bld.3 + 3 1050 c.714C>T c.(712-714)ttC>ttT p.F238F ZNF592_uc010upb.2_Non-coding_Transcript NM_014630 NP_055445 Q92610 ZN592_HUMAN Homo sapiens zinc finger protein 592 (ZNF592), mRNA. 238 cell death|regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding p.F238F(2) breast(2)|endometrium(2)|kidney(1)|large_intestine(12)|lung(14)|ovary(4)|prostate(2)|skin(2)|urinary_tract(1) 40 BRCA - Breast invasive adenocarcinoma(143;0.0587) CTCGATTCTTCGGGGAAGCTT 0.582000 64 43 0 0 0.000147903 0 0 SVOP 55530 broad.mit.edu 37 12 109306351 109306351 + Missense_Mutation SNP C T T TCGA-BF-A1PZ-01A-11D-A19A-08 TCGA-BF-A1PZ-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6ef799ed-a9fa-4328-95d3-265699e16339 a8458b1d-3040-455b-ae7a-b1ac22b9f2b6 g.chr12:109306351C>T uc010sxh.1 - 15 1617 c.1445G>A c.(1444-1446)gGt>gAt p.G482D NM_018711 NP_061181 Q8N4V2 SVOP_HUMAN Homo sapiens SV2 related protein homolog (rat) (SVOP), mRNA. 536 cell junction|integral to membrane|synaptic vesicle membrane ion transmembrane transporter activity breast(2)|lung(4) 6 AACACCTGCACCGTGCATTCC 0.627000 75 47 0 0 0.000147903 0 0 SH3TC1 54436 broad.mit.edu 37 4 8220074 8220074 + Splice_Site SNP G A A TCGA-BF-A1PZ-01A-11D-A19A-08 TCGA-BF-A1PZ-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6ef799ed-a9fa-4328-95d3-265699e16339 a8458b1d-3040-455b-ae7a-b1ac22b9f2b6 g.chr4:8220074G>A uc003gkv.4 + 8 1017 c.916_splice c.e8+1 p.A306_splice SH3TC1_uc003gkw.4_Splice_Site_p.A230_splice|SH3TC1_uc003gkx.4_Splice_Site NM_018986 NP_061859 Q8TE82 S3TC1_HUMAN Homo sapiens SH3 domain and tetratricopeptide repeats 1 (SH3TC1), mRNA. 306 SH3. binding NS(1)|breast(3)|endometrium(4)|kidney(4)|large_intestine(6)|lung(10)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2) 33 CCCGCTGATGGGTAAGTGTTT 0.577000 8 20 0 0 0.000295444 0 0 RYR1 6261 broad.mit.edu 37 19 39071075 39071075 + Silent SNP C T T TCGA-BF-A1PZ-01A-11D-A19A-08 TCGA-BF-A1PZ-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6ef799ed-a9fa-4328-95d3-265699e16339 a8458b1d-3040-455b-ae7a-b1ac22b9f2b6 g.chr19:39071075C>T uc002oit.3 + 100 14707 c.14577C>T c.(14575-14577)ttC>ttT p.F4859F RYR1_uc002oiu.3_Silent_p.F4854F NM_000540 NP_000531 P21817 RYR1_HUMAN Homo sapiens ryanodine receptor 1 (skeletal) (RYR1), transcript variant 1, mRNA. 4859 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) CCTTCAACTTCTTCCGCAAGT 0.592000 39 10 0 0 6.40141e-05 0 0 AK2 204 broad.mit.edu 37 1 33478818 33478818 + Silent SNP G A A TCGA-BF-A1PZ-01A-11D-A19A-08 TCGA-BF-A1PZ-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6ef799ed-a9fa-4328-95d3-265699e16339 a8458b1d-3040-455b-ae7a-b1ac22b9f2b6 g.chr1:33478818G>A uc001bwp.2 - 5 767 c.684C>T c.(682-684)tcC>tcT p.S228S BC036308_uc001bwn.3_Intron|AK2_uc001bwq.2_Silent_p.S180S|AK2_uc010ohq.2_Silent_p.S220S|AK2_uc001bwo.2_Silent_p.S228S|AK2_uc009vud.2_Silent_p.S186S|AK2_uc010ohr.2_Silent_p.S180S NM_001625 NP_001616 P54819 KAD2_HUMAN Homo sapiens adenylate kinase 2 (AK2), nuclear gene encoding mitochondrial protein, transcript variant 1, mRNA. 228 nucleobase, nucleoside and nucleotide interconversion mitochondrial intermembrane space ATP binding|adenylate kinase activity kidney(1)|large_intestine(2)|lung(4)|skin(1) 8 Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0837) ATGTGGCTTTGGAGAAGGCTG 0.502000 12 80 0 0 0.000147903 0 0 RNF17 56163 broad.mit.edu 37 13 25338397 25338397 + Missense_Mutation SNP G A A TCGA-BF-A1PZ-01A-11D-A19A-08 TCGA-BF-A1PZ-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6ef799ed-a9fa-4328-95d3-265699e16339 a8458b1d-3040-455b-ae7a-b1ac22b9f2b6 g.chr13:25338397G>A uc001upr.3 + 0 97 c.56G>A c.(55-57)gGg>gAg p.G19E RNF17_uc010tdd.1_5'UTR|RNF17_uc010tde.2_Missense_Mutation_p.G19E|RNF17_uc010aab.3_Non-coding_Transcript|RNF17_uc001ups.3_5'UTR|RNF17_uc001upq.1_Missense_Mutation_p.G19E NM_031277 NP_112567 Q9BXT8 RNF17_HUMAN Homo sapiens ring finger protein 17 (RNF17), transcript variant 1, mRNA. 19 multicellular organismal development cytoplasm|nucleus hydrolase activity, acting on ester bonds|nucleic acid binding|zinc ion binding NS(1)|breast(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(15)|ovary(1)|prostate(3)|skin(6) 36 Lung SC(185;0.0225)|Breast(139;0.077) all cancers(112;0.0114)|OV - Ovarian serous cystadenocarcinoma(117;0.0311)|Epithelial(112;0.0524) CAGCGAATGGGGAGGAAGAGT 0.612000 3 16 0 0 0.000308642 0 0 EFTUD2 9343 broad.mit.edu 37 17 42942341 42942341 + Silent SNP G A A TCGA-BF-A1PZ-01A-11D-A19A-08 TCGA-BF-A1PZ-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6ef799ed-a9fa-4328-95d3-265699e16339 a8458b1d-3040-455b-ae7a-b1ac22b9f2b6 g.chr17:42942341G>A uc002ihn.2 - 13 1503 c.1242C>T c.(1240-1242)ccC>ccT p.P414P EFTUD2_uc010wje.1_Silent_p.P379P|EFTUD2_uc010wjf.1_Silent_p.P404P NM_004247 NP_001136077 Q15029 U5S1_HUMAN Homo sapiens elongation factor Tu GTP binding domain containing 2 (EFTUD2), transcript variant 1, mRNA. 414 Cajal body|catalytic step 2 spliceosome|cytoplasm|nuclear speck GTP binding|GTPase activity|protein binding p.R413C(1) breast(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|lung(9)|ovary(1)|prostate(2)|skin(1)|urinary_tract(2) 32 Prostate(33;0.109) GCCTGAGCAAGGGGCGGATGT 0.562000 OREG0024466 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 95 43 0 0 0.000147903 0 0 DNAH9 1770 broad.mit.edu 37 17 11845635 11845635 + Missense_Mutation SNP G A A TCGA-BF-A1PZ-01A-11D-A19A-08 TCGA-BF-A1PZ-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6ef799ed-a9fa-4328-95d3-265699e16339 a8458b1d-3040-455b-ae7a-b1ac22b9f2b6 g.chr17:11845635G>A uc002gne.3 + 66 12744 c.12676G>A c.(12676-12678)Gaa>Aaa p.E4226K DNAH9_uc010coo.3_Missense_Mutation_p.E3444K|DNAH9_uc002gnf.3_Missense_Mutation_p.E538K NM_001372 NP_001363 Q9NYC9 DYH9_HUMAN Homo sapiens dynein, axonemal, heavy chain 9 (DNAH9), transcript variant 2, mRNA. 4226 cell projection organization|cellular component movement|microtubule-based movement|spermatogenesis axonemal dynein complex|cilium axoneme|cytoplasm|microtubule ATP binding|ATPase activity|microtubule motor activity NS(2)|autonomic_ganglia(1)|breast(15)|central_nervous_system(5)|endometrium(17)|haematopoietic_and_lymphoid_tissue(6)|kidney(17)|large_intestine(49)|liver(2)|lung(123)|ovary(6)|pancreas(1)|prostate(6)|skin(21)|stomach(2)|upper_aerodigestive_tract(13)|urinary_tract(4) 290 Breast(5;0.0122)|all_epithelial(5;0.131) Colorectal(4;6.88e-05)|COAD - Colon adenocarcinoma(4;0.000813)|READ - Rectum adenocarcinoma(10;0.157) GGCACTTCTGGAAGAAATATT 0.498000 100 16 0 0 9.7654e-05 0 0 CNTNAP1 8506 broad.mit.edu 37 17 40839022 40839022 + Silent SNP C T T TCGA-BF-A1PZ-01A-11D-A19A-08 TCGA-BF-A1PZ-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6ef799ed-a9fa-4328-95d3-265699e16339 a8458b1d-3040-455b-ae7a-b1ac22b9f2b6 g.chr17:40839022C>T uc002iay.3 + 6 1218 c.1002C>T c.(1000-1002)atC>atT p.I334I CNTNAP1_uc010wgs.2_Non-coding_Transcript NM_003632 NP_003623 P78357 CNTP1_HUMAN Homo sapiens contactin associated protein 1 (CNTNAP1), mRNA. 334 Laminin G-like 1. axon guidance|cell adhesion paranode region of axon SH3 domain binding|SH3/SH2 adaptor activity|receptor activity|receptor binding NS(1)|breast(4)|cervix(1)|endometrium(5)|kidney(3)|large_intestine(11)|lung(15)|ovary(5)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 49 Breast(137;0.000143) BRCA - Breast invasive adenocarcinoma(366;0.143) GCGTCAACATCGCAGACCTGG 0.597000 48 14 0 0 0.000422831 0 0 NOL10 79954 broad.mit.edu 37 2 10807351 10807351 + Missense_Mutation SNP G A A TCGA-BF-A1PZ-01A-11D-A19A-08 TCGA-BF-A1PZ-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6ef799ed-a9fa-4328-95d3-265699e16339 a8458b1d-3040-455b-ae7a-b1ac22b9f2b6 g.chr2:10807351G>A uc002raq.2 - 7 709 c.584C>T c.(583-585)aCc>aTc p.T195I NOL10_uc010yje.1_Missense_Mutation_p.T169I|NOL10_uc010yjf.1_Missense_Mutation_p.T145I|NOL10_uc002rap.2_Missense_Mutation_p.T195I|NOL10_uc002rar.2_Missense_Mutation_p.T45I NM_024894 NP_079170 Q9BSC4 NOL10_HUMAN Homo sapiens nucleolar protein 10 (NOL10), mRNA. 195 nucleolus Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.191) Epithelial(75;0.172)|OV - Ovarian serous cystadenocarcinoma(76;0.207) TACCTCTATGGTTCCTGTGGC 0.323000 8 6 0 0 0.000157383 0 0 DDR1 780 broad.mit.edu 37 6 30859856 30859856 + Missense_Mutation SNP G T T rs112944019 TCGA-BF-A1PZ-01A-11D-A19A-08 TCGA-BF-A1PZ-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6ef799ed-a9fa-4328-95d3-265699e16339 a8458b1d-3040-455b-ae7a-b1ac22b9f2b6 g.chr6:30859856G>T uc003nrv.3 + 5 785 c.743G>T c.(742-744)cGg>cTg p.R248L DDR1_uc010jse.3_Missense_Mutation_p.R248L|DDR1_uc003nrq.3_Missense_Mutation_p.R248L|DDR1_uc003nrr.3_Missense_Mutation_p.R248L|DDR1_uc003nrs.3_Missense_Mutation_p.R248L|DDR1_uc003nrt.3_Missense_Mutation_p.R248L|DDR1_uc011dms.2_Missense_Mutation_p.R266L|DDR1_uc003nru.3_Missense_Mutation_p.R248L|DDR1_uc011dmu.1_Missense_Mutation_p.G215W|DDR1_uc003nry.2_Missense_Mutation_p.R248L|DDR1_uc003nrx.2_Missense_Mutation_p.R248L|DDR1_uc003nrw.1_Missense_Mutation_p.R47L NM_013994 NP_054700 Q08345 DDR1_HUMAN Homo sapiens discoidin domain receptor tyrosine kinase 1 (DDR1), transcript variant 3, mRNA. 248 cell adhesion|transmembrane receptor protein tyrosine kinase signaling pathway extracellular region|integral to plasma membrane ATP binding|protein binding|transmembrane receptor protein tyrosine kinase activity p.R248L(2)|p.R248R(2) central_nervous_system(3)|endometrium(2)|kidney(1)|large_intestine(5)|liver(1)|lung(14)|ovary(1)|prostate(1)|skin(1) 29 Imatinib(DB00619) CAGGAGCTGCGGGTCTGGCCA 0.577000 78 7 3.86212e-05 0.000655097 3.86212e-05 1 0 A1CF 29974 broad.mit.edu 37 10 52619645 52619645 + Missense_Mutation SNP G A A TCGA-BF-A1PZ-01A-11D-A19A-08 TCGA-BF-A1PZ-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6ef799ed-a9fa-4328-95d3-265699e16339 a8458b1d-3040-455b-ae7a-b1ac22b9f2b6 g.chr10:52619645G>A uc001jjj.3 - 2 244 c.56C>T c.(55-57)gCc>gTc p.A19V A1CF_uc010qho.2_5'UTR|A1CF_uc010qhn.2_5'UTR|A1CF_uc009xov.3_Missense_Mutation_p.A19V|A1CF_uc001jji.3_Missense_Mutation_p.A19V|A1CF_uc001jjh.3_5'UTR|A1CF_uc001jjk.1_Missense_Mutation_p.A19V NM_138932 NP_620310 Q9NQ94 A1CF_HUMAN Homo sapiens APOBEC1 complementation factor (A1CF), transcript variant 2, mRNA. 19 cytidine to uridine editing|mRNA modification|mRNA processing|protein stabilization apolipoprotein B mRNA editing enzyme complex|endoplasmic reticulum|nucleoplasm nucleotide binding|protein binding|single-stranded RNA binding NS(1)|breast(1)|central_nervous_system(1)|kidney(3)|large_intestine(4)|lung(14)|prostate(2)|skin(3) 29 TGCGCGGAGGGCTGCTTCCTT 0.483000 11 10 0 0 0.00010058 0 0 TF 7018 broad.mit.edu 37 3 133494371 133494371 + Silent SNP G A A TCGA-BF-A1PZ-01A-11D-A19A-08 TCGA-BF-A1PZ-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6ef799ed-a9fa-4328-95d3-265699e16339 a8458b1d-3040-455b-ae7a-b1ac22b9f2b6 g.chr3:133494371G>A uc003epu.2 + 19 3510 c.1782G>A c.(1780-1782)gcG>gcA p.A594A TF_uc011blt.2_Silent_p.A467A|TF_uc003epw.2_Intron|TF_uc003epv.2_Silent_p.A594A NM_001063 NP_001054 P02787 TRFE_HUMAN Homo sapiens transferrin (TF), mRNA. 594 Transferrin-like 2. cellular iron ion homeostasis|platelet activation|platelet degranulation|transferrin transport|transmembrane transport apical plasma membrane|basal plasma membrane|coated pit|early endosome|endocytic vesicle|endosome membrane|extracellular region|late endosome|perinuclear region of cytoplasm|recycling endosome|stored secretory granule ferric iron binding p.A594V(1) NS(1)|autonomic_ganglia(1)|breast(3)|endometrium(7)|large_intestine(13)|liver(2)|lung(16)|ovary(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1) 49 Aluminium(DB01370)|Bismuth(DB01402)|Iron Dextran(DB00893) AGGAGTATGCGAACTGCCACC 0.498000 61 39 0 0 0.000589545 0 0 DPYD 1806 broad.mit.edu 37 1 97544568 97544568 + Silent SNP C T T TCGA-BF-A1PZ-01A-11D-A19A-08 TCGA-BF-A1PZ-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6ef799ed-a9fa-4328-95d3-265699e16339 a8458b1d-3040-455b-ae7a-b1ac22b9f2b6 g.chr1:97544568C>T uc001drv.3 - 22 3179 c.3042G>A c.(3040-3042)aaG>aaA p.K1014K NM_000110 NP_000101 Q12882 DPYD_HUMAN Homo sapiens dihydropyrimidine dehydrogenase (DPYD), transcript variant 1, mRNA. 1014 'de novo' pyrimidine base biosynthetic process|UMP biosynthetic process|purine base catabolic process|thymidine catabolic process|thymine catabolic process|uracil catabolic process cytosol 4 iron, 4 sulfur cluster binding|NADP binding|dihydroorotate oxidase activity|dihydropyrimidine dehydrogenase (NADP+) activity|electron carrier activity|flavin adenine dinucleotide binding|metal ion binding|protein homodimerization activity p.P1013S(1) NS(2)|breast(4)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(18)|lung(30)|ovary(4)|prostate(6)|skin(7)|upper_aerodigestive_tract(1) 83 all_epithelial(167;0.000185)|all_lung(203;0.00318)|Lung NSC(277;0.00994) Colorectal(170;0.0165)|Epithelial(280;0.0526)|all cancers(265;0.104)|READ - Rectum adenocarcinoma(84;0.171)|Lung(183;0.216) Capecitabine(DB01101)|Enfuvirtide(DB00109) GTACGCCTCTCTTTGGTTCAT 0.428000 9 32 0 0 0.000159656 0 0 USP6 9098 broad.mit.edu 37 17 5058771 5058771 + Missense_Mutation SNP G A A TCGA-BF-A1PZ-01A-11D-A19A-08 TCGA-BF-A1PZ-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6ef799ed-a9fa-4328-95d3-265699e16339 a8458b1d-3040-455b-ae7a-b1ac22b9f2b6 g.chr17:5058771G>A uc002gau.1 + 30 4928 c.2698G>A c.(2698-2700)Gga>Aga p.G900R USP6_uc002gav.1_Missense_Mutation_p.G900R|USP6_uc010ckz.1_Missense_Mutation_p.G583R NM_004505 NP_004496 P35125 UBP6_HUMAN Homo sapiens ubiquitin specific peptidase 6 (Tre-2 oncogene) (USP6), mRNA. 900 protein deubiquitination|regulation of vesicle-mediated transport|ubiquitin-dependent protein catabolic process lysosome|plasma membrane|recycling endosome Rab GTPase activator activity|calmodulin binding|cysteine-type endopeptidase activity|nucleic acid binding|protein binding|ubiquitin thiolesterase activity|ubiquitin-specific protease activity breast(2)|central_nervous_system(1)|endometrium(1)|kidney(4)|large_intestine(4)|lung(15)|ovary(1)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1) 34 CAGCCTCTTTGGAATGCCATT 0.473000 T """COL1A1, CDH11, ZNF9, OMD""" aneurysmal bone cysts 95 22 0 0 0.000117367 0 0 LYST 1130 broad.mit.edu 37 1 235969220 235969220 + Silent SNP G A A TCGA-BF-A1PZ-01A-11D-A19A-08 TCGA-BF-A1PZ-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6ef799ed-a9fa-4328-95d3-265699e16339 a8458b1d-3040-455b-ae7a-b1ac22b9f2b6 g.chr1:235969220G>A uc001hxj.2 - 5 3391 c.3216C>T c.(3214-3216)tcC>tcT p.S1072S LYST_uc009xgb.1_Non-coding_Transcript|LYST_uc010pxs.1_Non-coding_Transcript|LYST_uc001hxl.1_Silent_p.S1072S NM_000081 NP_000072 Q99698 LYST_HUMAN Homo sapiens lysosomal trafficking regulator (LYST), mRNA. 1072 defense response to bacterium|defense response to protozoan|defense response to virus|endosome to lysosome transport via multivesicular body sorting pathway|leukocyte chemotaxis|mast cell secretory granule organization|melanosome organization|natural killer cell mediated cytotoxicity|protein transport cytoplasm|microtubule cytoskeleton protein binding NS(1)|breast(13)|central_nervous_system(3)|cervix(3)|endometrium(17)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(27)|lung(66)|ovary(7)|pancreas(1)|prostate(4)|skin(4)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(1) 162 Ovarian(103;0.0634)|Breast(184;0.23) all_cancers(173;0.00246)|Prostate(94;0.0771)|Acute lymphoblastic leukemia(190;0.228) OV - Ovarian serous cystadenocarcinoma(106;0.000674) CCACATTTATGGAAGAAATAT 0.383000 5 87 0 0 0.000147903 0 0 PDE4DIP 9659 broad.mit.edu 37 1 144952265 144952265 + Missense_Mutation SNP C T T TCGA-BF-A1PZ-01A-11D-A19A-08 TCGA-BF-A1PZ-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6ef799ed-a9fa-4328-95d3-265699e16339 a8458b1d-3040-455b-ae7a-b1ac22b9f2b6 g.chr1:144952265C>T uc021ouh.1 - 3 756 c.454G>A c.(454-456)Gaa>Aaa p.E152K NBPF10_uc021ots.1_Intron|NBPF10_uc010oye.2_Intron|PDE4DIP_uc001elk.2_Intron|PDE4DIP_uc001ell.2_Intron|PDE4DIP_uc001elm.4_Intron|PDE4DIP_uc001eln.4_Intron|PDE4DIP_uc001elo.3_Intron|PDE4DIP_uc001elw.4_Missense_Mutation_p.E152K|PDE4DIP_uc001elx.4_Missense_Mutation_p.E218K|PDE4DIP_uc001emd.2_Missense_Mutation_p.E152K|PDE4DIP_uc001emc.2_Missense_Mutation_p.E152K|PDE4DIP_uc001emg.2_Missense_Mutation_p.E152K|PDE4DIP_uc021oui.1_Missense_Mutation_p.E155K|PDE4DIP_uc021ouj.1_Missense_Mutation_p.E120K|PDE4DIP_uc001emh.3_Missense_Mutation_p.E289K NM_001198834 NP_001185763 Q5VU43 MYOME_HUMAN Homo sapiens phosphodiesterase 4D interacting protein (PDE4DIP), transcript variant 9, mRNA. 152 cellular protein complex assembly Golgi apparatus|centrosome|myofibril|nucleus enzyme binding NS(1)|breast(3)|central_nervous_system(2)|cervix(2)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(9)|large_intestine(12)|lung(106)|ovary(8)|prostate(7)|skin(3)|upper_aerodigestive_tract(4)|urinary_tract(2) 176 Colorectal(2;0.0829)|COAD - Colon adenocarcinoma(2;0.126) GGTACATCTTCCCAGTTTTTG 0.537000 T PDGFRB MPD 86 17 0 0 0.000409698 0 0 NUP214 8021 broad.mit.edu 37 9 134016001 134016001 + Missense_Mutation SNP C T T TCGA-BF-A1PZ-01A-11D-A19A-08 TCGA-BF-A1PZ-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6ef799ed-a9fa-4328-95d3-265699e16339 a8458b1d-3040-455b-ae7a-b1ac22b9f2b6 g.chr9:134016001C>T uc004cag.3 + 10 1309 c.1198C>T c.(1198-1200)Cca>Tca p.P400S NUP214_uc004cah.3_Missense_Mutation_p.P400S|NUP214_uc004caf.1_Missense_Mutation_p.P400S NM_005085 NP_005076 P35658 NU214_HUMAN Homo sapiens nucleoporin 214kDa (NUP214), mRNA. 400 carbohydrate metabolic process|glucose transport|mRNA metabolic process|protein export from nucleus|regulation of glucose transport|transmembrane transport|viral reproduction cytosol|nuclear pore|nucleoplasm protein binding NS(1)|breast(9)|central_nervous_system(3)|endometrium(13)|kidney(2)|large_intestine(9)|liver(2)|lung(29)|ovary(2)|prostate(3)|skin(7)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(2) 86 all_hematologic(7;0.0028) Myeloproliferative disorder(178;0.204) OV - Ovarian serous cystadenocarcinoma(145;3.42e-05)|Epithelial(140;0.000256) TGTGCTTTGTCCATTTTATAT 0.383000 T """DEK, SET, ABL1""" """AML, T-ALL""" 59 39 0 0 0.000319135 0 0 POM121 9883 broad.mit.edu 37 7 72418883 72418884 + Nonsense_Mutation DNP CC TT TT TCGA-BF-A1PZ-01A-11D-A19A-08 TCGA-BF-A1PZ-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6ef799ed-a9fa-4328-95d3-265699e16339 a8458b1d-3040-455b-ae7a-b1ac22b9f2b6 g.chr7:72418883_72418884CC>TT uc010lam.1 + 15 3915_3916 c.2874_2875CC>TT c.(2872-2877)caccag>caTTag p.Q959* NSUN5P2_uc003twl.3_Non-coding_Transcript|NSUN5P2_uc003two.3_3'UTR|NSUN5P2_uc003twn.3_3'UTR|NSUN5P2_uc003twm.3_3'UTR|NSUN5P2_uc003twp.3_3'UTR|NSUN5P2_uc003twq.3_3'UTR|NSUN5P2_uc010lan.2_3'UTR NM_172020 NP_742017 Q96HA1 P121A_HUMAN Homo sapiens POM121 membrane glycoprotein (POM121), mRNA. 998 Pore side (Potential). carbohydrate metabolic process|glucose transport|mRNA transport|protein transport|regulation of glucose transport|transmembrane transport|viral reproduction endoplasmic reticulum membrane|nuclear membrane|nuclear pore NS(1)|breast(1)|endometrium(9)|kidney(4)|large_intestine(6)|lung(12)|prostate(3)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1) 41 Lung NSC(55;0.163) CTTTTGCTCACCAGCAAGAACA 0.475000 22 27 0 0 6.4e-05 0 0 PLG 5340 broad.mit.edu 37 6 161123349 161123349 + Missense_Mutation SNP G A A TCGA-BF-A1PZ-01A-11D-A19A-08 TCGA-BF-A1PZ-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6ef799ed-a9fa-4328-95d3-265699e16339 a8458b1d-3040-455b-ae7a-b1ac22b9f2b6 g.chr6:161123349G>A uc003qtm.4 + 0 125 c.13G>A c.(13-15)Gaa>Aaa p.E5K PLG_uc021zhr.1_Missense_Mutation_p.E5K NM_000301 NP_000292 P00747 PLMN_HUMAN Homo sapiens plasminogen (PLG), transcript variant 1, mRNA. 5 extracellular matrix disassembly|fibrinolysis|negative regulation of cell proliferation|negative regulation of cell-substrate adhesion|negative regulation of fibrinolysis|platelet activation|platelet degranulation|positive regulation of fibrinolysis|proteolysis|tissue remodeling extracellular space|extrinsic to external side of plasma membrane|platelet alpha granule lumen apolipoprotein binding|cell surface binding|serine-type endopeptidase activity NS(1)|breast(4)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(12)|lung(19)|ovary(1)|prostate(3)|skin(9)|upper_aerodigestive_tract(1) 59 OV - Ovarian serous cystadenocarcinoma(65;5.24e-17)|BRCA - Breast invasive adenocarcinoma(81;7.08e-06) Aminocaproic Acid(DB00513)|Streptokinase(DB00086)|Tranexamic Acid(DB00302)|Urokinase(DB00013) GGAACATAAGGAAGTGGTTCT 0.368000 17 38 0 0 0.000147903 0 0 FAM124A 220108 broad.mit.edu 37 13 51825617 51825617 + Silent SNP T A A TCGA-BF-A1PZ-01A-11D-A19A-08 TCGA-BF-A1PZ-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6ef799ed-a9fa-4328-95d3-265699e16339 a8458b1d-3040-455b-ae7a-b1ac22b9f2b6 g.chr13:51825617T>A uc001vff.2 + 3 390 c.222T>A c.(220-222)gtT>gtA p.V74V FAM124A_uc001vfe.3_Silent_p.V38V|FAM124A_uc001vfg.2_Silent_p.V38V NM_145019 NP_659456 Q86V42 F124A_HUMAN Homo sapiens family with sequence similarity 124A (FAM124A), transcript variant 1, mRNA. 38 p.S73S(1)|p.V74I(1) breast(1)|central_nervous_system(2)|endometrium(3)|kidney(3)|large_intestine(7)|lung(6)|ovary(1)|prostate(2)|skin(1) 26 Acute lymphoblastic leukemia(7;0.000334)|Breast(56;0.00156)|Prostate(109;0.00538)|Lung NSC(96;0.0216)|Hepatocellular(98;0.152)|Glioma(44;0.236) GBM - Glioblastoma multiforme(99;4.25e-07) AGCTTTCCGTTGAAGAGGCGC 0.517000 66 7 0 0 3.86212e-05 0 0 HSPA2 3306 broad.mit.edu 37 14 65008605 65008605 + Silent SNP C T T TCGA-BF-A1PZ-01A-11D-A19A-08 TCGA-BF-A1PZ-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6ef799ed-a9fa-4328-95d3-265699e16339 a8458b1d-3040-455b-ae7a-b1ac22b9f2b6 g.chr14:65008605C>T uc001xhj.3 + 1 1114 c.1038C>T c.(1036-1038)atC>atT p.I346I HSPA2_uc001xhk.4_Silent_p.I346I NM_021979 NP_068814 P54652 HSP72_HUMAN Homo sapiens heat shock 70kDa protein 2 (HSPA2), mRNA. 346 response to unfolded protein|spermatid development cell surface ATP binding|unfolded protein binding breast(1)|endometrium(4)|large_intestine(3)|lung(7)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2) 22 all cancers(60;0.00515)|OV - Ovarian serous cystadenocarcinoma(108;0.00584)|BRCA - Breast invasive adenocarcinoma(234;0.045) CCACTCGTATCCCCAAGATCC 0.642000 21 19 0 0 9.7654e-05 0 0 CCDC33 80125 broad.mit.edu 37 15 74536355 74536355 + Silent SNP C T T TCGA-BF-A1PZ-01A-11D-A19A-08 TCGA-BF-A1PZ-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6ef799ed-a9fa-4328-95d3-265699e16339 a8458b1d-3040-455b-ae7a-b1ac22b9f2b6 g.chr15:74536355C>T uc002axo.3 + 1 445 c.51C>T c.(49-51)atC>atT p.I17I NM_025055 NP_079331 Q8N5R6 CCD33_HUMAN Homo sapiens coiled-coil domain containing 33 (CCDC33), transcript variant 1, mRNA. 220 protein binding breast(2)|central_nervous_system(2)|endometrium(1)|kidney(2)|large_intestine(2)|lung(17)|ovary(4)|pancreas(1)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(2) 39 AGCCCCTGATCGCCTCCCAGA 0.557000 35 18 0 0 0.000375601 0 0 ATMIN 23300 broad.mit.edu 37 16 81077159 81077159 + Silent SNP C T T TCGA-BF-A1PZ-01A-11D-A19A-08 TCGA-BF-A1PZ-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6ef799ed-a9fa-4328-95d3-265699e16339 a8458b1d-3040-455b-ae7a-b1ac22b9f2b6 g.chr16:81077159C>T uc002ffz.1 + 3 1074 c.1056C>T c.(1054-1056)atC>atT p.I352I ATMIN_uc002fga.2_Silent_p.I194I|ATMIN_uc010vnn.1_Silent_p.I123I|ATMIN_uc002fgb.1_Silent_p.I194I NM_015251 NP_056066 O43313 ATMIN_HUMAN Homo sapiens ATM interactor (ATMIN), mRNA. 352 Required for formation of RAD51 foci. response to DNA damage stimulus nucleus zinc ion binding breast(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(9)|prostate(1)|skin(1)|upper_aerodigestive_tract(2) 20 GAACCCTGATCCTCGGCCTAG 0.512000 28 21 0 0 0.000229342 0 0 TLR4 7099 broad.mit.edu 37 9 120475528 120475528 + Silent SNP C T T TCGA-BF-A1PZ-01A-11D-A19A-08 TCGA-BF-A1PZ-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6ef799ed-a9fa-4328-95d3-265699e16339 a8458b1d-3040-455b-ae7a-b1ac22b9f2b6 g.chr9:120475528C>T uc004bjz.3 + 2 1413 c.1122C>T c.(1120-1122)agC>agT p.S374S TLR4_uc004bkb.3_Silent_p.S174S|TLR4_uc004bka.3_Silent_p.S334S NM_138554 NP_612564 O00206 TLR4_HUMAN Homo sapiens toll-like receptor 4 (TLR4), transcript variant 1, mRNA. 374 I-kappaB phosphorylation|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|T-helper 1 type immune response|Toll signaling pathway|activation of MAPK activity|cellular response to mechanical stimulus|detection of fungus|detection of lipopolysaccharide|innate immune response|intestinal epithelial structure maintenance|negative regulation of ERK1 and ERK2 cascade|negative regulation of interferon-gamma production|negative regulation of interleukin-17 production|negative regulation of interleukin-23 production|negative regulation of interleukin-6 production|negative regulation of osteoclast differentiation|negative regulation of tumor necrosis factor production|positive regulation of NF-kappaB import into nucleus|positive regulation of NF-kappaB transcription factor activity|positive regulation of chemokine production|positive regulation of interferon-alpha production|positive regulation of interferon-beta production|positive regulation of interferon-gamma production|positive regulation of interleukin-1 production|positive regulation of interleukin-10 production|positive regulation of interleukin-12 biosynthetic process|positive regulation of interleukin-12 production|positive regulation of interleukin-6 production|positive regulation of interleukin-8 biosynthetic process|positive regulation of interleukin-8 production|positive regulation of nitric-oxide synthase biosynthetic process|positive regulation of platelet activation|positive regulation of transcription from RNA polymerase II promoter|positive regulation of tumor necrosis factor biosynthetic process|positive regulation of tumor necrosis factor production|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 4 signaling pathway external side of plasma membrane|integral to plasma membrane|lipopolysaccharide receptor complex|perinuclear region of cytoplasm lipopolysaccharide receptor activity|transmembrane receptor activity p.S374R(2) breast(2)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(12)|lung(66)|ovary(4)|pancreas(1)|skin(6)|upper_aerodigestive_tract(5)|urinary_tract(1) 103 ATCTACCAAGCCTTGAGTTTC 0.388000 9 8 0 0 0.000274275 0 0 TFDP1 7027 broad.mit.edu 37 13 114288278 114288278 + Missense_Mutation SNP C T T TCGA-BF-A1PZ-01A-11D-A19A-08 TCGA-BF-A1PZ-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6ef799ed-a9fa-4328-95d3-265699e16339 a8458b1d-3040-455b-ae7a-b1ac22b9f2b6 g.chr13:114288278C>T uc001vtw.3 + 6 760 c.548C>T c.(547-549)tCc>tTc p.S183F TFDP1_uc010tkd.2_Missense_Mutation_p.S88F|TFDP1_uc010tke.2_Missense_Mutation_p.S88F|TFDP1_uc001vty.4_Missense_Mutation_p.S183F|TFDP1_uc010agx.3_Missense_Mutation_p.S183F NM_007111 NP_009042 Q14186 TFDP1_HUMAN Homo sapiens transcription factor Dp-1 (TFDP1), transcript variant 1, mRNA. 183 G1 phase of mitotic cell cycle|G1/S transition of mitotic cell cycle|cell proliferation|regulation of transcription from RNA polymerase II promoter transcription factor complex DNA binding|protein domain specific binding|sequence-specific DNA binding transcription factor activity|transcription coactivator activity|transcription factor binding breast(2)|central_nervous_system(1)|endometrium(3)|large_intestine(4)|lung(10)|ovary(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1) 26 Lung NSC(43;0.0113)|all_neural(89;0.0337)|Hepatocellular(20;0.0877)|Medulloblastoma(90;0.163)|Lung SC(71;0.218) all_cancers(25;0.132)|all_epithelial(44;0.0731)|all_lung(25;0.149)|Breast(118;0.153) all cancers(43;0.0576) AACATCATCTCCAAGGAGAAG 0.502000 TSP Lung(29;0.18) 73 9 0 0 0.000442599 0 0 ANK1 286 broad.mit.edu 37 8 41554043 41554043 + Missense_Mutation SNP C T T TCGA-BF-A1PZ-01A-11D-A19A-08 TCGA-BF-A1PZ-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6ef799ed-a9fa-4328-95d3-265699e16339 a8458b1d-3040-455b-ae7a-b1ac22b9f2b6 g.chr8:41554043C>T uc003xok.3 - 25 2882 c.2798G>A c.(2797-2799)gGc>gAc p.G933D NKX6-3_uc010lxa.1_Intron|ANK1_uc003xoh.3_Missense_Mutation_p.G249D|ANK1_uc003xoi.3_Missense_Mutation_p.G933D|ANK1_uc003xoj.3_Missense_Mutation_p.G933D|ANK1_uc003xol.3_Missense_Mutation_p.G933D|ANK1_uc003xom.3_Missense_Mutation_p.G974D NM_020476 NP_065209 P16157 ANK1_HUMAN Homo sapiens ankyrin 1, erythrocytic (ANK1), transcript variant 1, mRNA. 933 ZU5. axon guidance|cytoskeleton organization|exocytosis|maintenance of epithelial cell apical/basal polarity|signal transduction basolateral plasma membrane|cytosol|sarcomere|sarcoplasmic reticulum|spectrin-associated cytoskeleton cytoskeletal adaptor activity|enzyme binding|protein binding|spectrin binding|structural constituent of cytoskeleton p.G933C(1) breast(5)|central_nervous_system(4)|endometrium(9)|kidney(1)|large_intestine(26)|lung(62)|ovary(3)|prostate(5)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(3) 122 Ovarian(28;0.00541)|Colorectal(14;0.0398)|Lung SC(25;0.211) all_lung(54;0.000626)|Lung NSC(58;0.00245)|Esophageal squamous(32;0.0559)|Hepatocellular(245;0.0663)|Renal(179;0.188) OV - Ovarian serous cystadenocarcinoma(14;0.000984)|Lung(22;0.00108)|Colorectal(10;0.00245)|LUSC - Lung squamous cell carcinoma(45;0.00392)|COAD - Colon adenocarcinoma(11;0.0264) CACTCGCAGGCCGTTGTGGCG 0.662000 2 13 0 0 0.000308642 0 0 MUC16 94025 broad.mit.edu 37 19 9077387 9077387 + Silent SNP C T T TCGA-BF-A1PZ-01A-11D-A19A-08 TCGA-BF-A1PZ-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6ef799ed-a9fa-4328-95d3-265699e16339 a8458b1d-3040-455b-ae7a-b1ac22b9f2b6 g.chr19:9077387C>T uc002mkp.3 - 2 10263 c.10059G>A c.(10057-10059)ggG>ggA p.G3353G NM_024690 NP_078966 Q8WXI7 MUC16_HUMAN Homo sapiens mucin 16, cell surface associated (MUC16), mRNA. 3354 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 CCCCTGTGGTCCCTCCAGTAG 0.483000 48 41 0 0 0.000509022 0 0 UBE4B 10277 broad.mit.edu 37 1 10218481 10218481 + Silent SNP C T T TCGA-BF-A1PZ-01A-11D-A19A-08 TCGA-BF-A1PZ-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6ef799ed-a9fa-4328-95d3-265699e16339 a8458b1d-3040-455b-ae7a-b1ac22b9f2b6 g.chr1:10218481C>T uc021ogc.1 + 22 3835 c.3147C>T c.(3145-3147)acC>acT p.T1049T UBE4B_uc001aqs.4_Silent_p.T998T|UBE4B_uc001aqr.4_Silent_p.T869T|UBE4B_uc010oai.2_Non-coding_Transcript|UBE4B_uc010oaj.2_Silent_p.T453T NM_001105562 NP_001099032 O95155 UBE4B_HUMAN Homo sapiens ubiquitination factor E4B (UBE4B), transcript variant 1, mRNA. 998 apoptosis|protein ubiquitination involved in ubiquitin-dependent protein catabolic process|response to UV cytoplasm|ubiquitin ligase complex enzyme binding p.S1048F(1) NS(3)|breast(1)|central_nervous_system(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(12)|lung(14)|ovary(2)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1) 48 all_lung(284;1.13e-05)|Lung NSC(185;1.74e-05)|Renal(390;0.000147)|Breast(348;0.00093)|Colorectal(325;0.00205)|Hepatocellular(190;0.00913)|Ovarian(437;0.0228)|Myeloproliferative disorder(586;0.0255) UCEC - Uterine corpus endometrioid carcinoma (279;0.0268)|Colorectal(212;1.42e-07)|COAD - Colon adenocarcinoma(227;2.77e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000435)|Kidney(185;0.000482)|KIRC - Kidney renal clear cell carcinoma(229;0.00164)|STAD - Stomach adenocarcinoma(132;0.0117)|READ - Rectum adenocarcinoma(331;0.046) ATATTAGCACCATTTTTAAAA 0.428000 6 69 0 0 0.000147903 0 0 FBXO30 84085 broad.mit.edu 37 6 146127255 146127255 + Missense_Mutation SNP C T T rs147203065 TCGA-BF-A1PZ-01A-11D-A19A-08 TCGA-BF-A1PZ-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6ef799ed-a9fa-4328-95d3-265699e16339 a8458b1d-3040-455b-ae7a-b1ac22b9f2b6 g.chr6:146127255C>T uc003qla.3 - 1 486 c.287G>A c.(286-288)cGa>cAa p.R96Q LOC100507557_uc003qky.2_Intron NM_032145 NP_115521 Q8TB52 FBX30_HUMAN Homo sapiens F-box protein 30 (FBXO30), mRNA. 96 ubiquitin-protein ligase activity|zinc ion binding NS(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(11)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1) 26 Ovarian(120;0.0776) OV - Ovarian serous cystadenocarcinoma(155;1.95e-07)|GBM - Glioblastoma multiforme(68;0.0149) AACTGGCCATCGATTCCATTC 0.433000 23 9 0 0 3.86212e-05 0 0 EXOSC5 56915 broad.mit.edu 37 19 41903196 41903196 + Missense_Mutation SNP G A A TCGA-BF-A1PZ-01A-11D-A19A-08 TCGA-BF-A1PZ-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6ef799ed-a9fa-4328-95d3-265699e16339 a8458b1d-3040-455b-ae7a-b1ac22b9f2b6 g.chr19:41903196G>A uc002oqo.3 - 0 61 c.38C>T c.(37-39)gCt>gTt p.A13V BCKDHA_uc002oqm.4_Intron|BCKDHA_uc002oqp.2_5'Flank|BCKDHA_uc002oqr.3_5'Flank|BCKDHA_uc002oqq.3_5'Flank|BCKDHA_uc010xvz.2_5'Flank NM_020158 NP_064543 Q9NQT4 EXOS5_HUMAN Homo sapiens exosome component 5 (EXOSC5), mRNA. 13 DNA deamination|exonucleolytic nuclear-transcribed mRNA catabolic process involved in deadenylation-dependent decay|rRNA processing cytosol|exosome (RNase complex)|nucleolus|transcriptionally active chromatin 3'-5'-exoribonuclease activity|RNA binding|protein binding endometrium(2)|kidney(1)|large_intestine(1)|lung(2)|urinary_tract(1) 7 TCCATTTTCAGCACGGATTTT 0.647000 54 25 0 0 0.000117367 0 0 RPL36A-HNRNPH2 100529097 broad.mit.edu 37 X 100645981 100645981 + Missense_Mutation SNP C T T TCGA-BF-A1PZ-01A-11D-A19A-08 TCGA-BF-A1PZ-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6ef799ed-a9fa-4328-95d3-265699e16339 a8458b1d-3040-455b-ae7a-b1ac22b9f2b6 g.chrX:100645981C>T uc022cag.1 + 0 104 c.58C>T c.(58-60)Ccg>Tcg p.P20S RPL36A-HNRNPH2_uc022cah.1_Missense_Mutation_p.P20S|BTK_uc010nno.2_5'Flank|RPL36A-HNRNPH2_uc004ehj.2_Missense_Mutation_p.P20S|RPL36A-HNRNPH2_uc004ehk.3_5'UTR NM_001199973 NP_001186902 Homo sapiens RPL36A-HNRNPH2 readthrough (RPL36A-HNRNPH2), transcript variant 1, mRNA. CTATATACTTCCGTTTGCCTC 0.567000 OREG0019892 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 7 23 0 0 0.00047179 0 0 STAB2 55576 broad.mit.edu 37 12 104123987 104123987 + Missense_Mutation SNP C T T TCGA-BF-A1PZ-01A-11D-A19A-08 TCGA-BF-A1PZ-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6ef799ed-a9fa-4328-95d3-265699e16339 a8458b1d-3040-455b-ae7a-b1ac22b9f2b6 g.chr12:104123987C>T uc001tjw.3 + 48 5362 c.5176C>T c.(5176-5178)Ccc>Tcc p.P1726S STAB2_uc009zug.3_Non-coding_Transcript NM_017564 NP_060034 Q8WWQ8 STAB2_HUMAN Homo sapiens stabilin 2 (STAB2), mRNA. 1726 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 ATTGCTATCTCCCAAAAATTT 0.358000 67 41 0 0 0.000319135 0 0 GRIA1 2890 broad.mit.edu 37 5 153190584 153190584 + Splice_Site SNP G A A TCGA-BF-A1PZ-01A-11D-A19A-08 TCGA-BF-A1PZ-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6ef799ed-a9fa-4328-95d3-265699e16339 a8458b1d-3040-455b-ae7a-b1ac22b9f2b6 g.chr5:153190584G>A uc011dcy.2 + 16 2578 c.2551_splice c.e16-1 p.G851_splice GRIA1_uc003lva.4_Splice_Site_p.G841_splice|GRIA1_uc003luy.4_Splice_Site_p.G841_splice|GRIA1_uc003luz.4_Splice_Site_p.G746_splice|GRIA1_uc011dcv.2_Splice_Site|GRIA1_uc011dcw.2_Splice_Site_p.G761_splice|GRIA1_uc011dcx.2_Splice_Site_p.G772_splice|GRIA1_uc011dcz.2_Splice_Site_p.G851_splice NM_001114183 NP_001107655 P42261 GRIA1_HUMAN Homo sapiens glutamate receptor, ionotropic, AMPA 1 (GRIA1), transcript variant 2, mRNA. 841 synaptic transmission alpha-amino-3-hydroxy-5-methyl-4-isoxazolepropionic acid selective glutamate receptor complex|cell junction|dendritic spine|endocytic vesicle membrane|endoplasmic reticulum membrane|neuronal cell body|postsynaptic density|postsynaptic membrane PDZ domain binding|alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity|extracellular-glutamate-gated ion channel activity|kainate selective glutamate receptor activity NS(1)|breast(4)|endometrium(7)|kidney(3)|large_intestine(24)|liver(2)|lung(23)|ovary(4)|pancreas(1)|prostate(5)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(2) 81 Medulloblastoma(196;0.0391)|all_neural(177;0.16)|all_hematologic(541;0.21) Kidney(363;0.000173)|KIRC - Kidney renal clear cell carcinoma(527;0.000785) Desflurane(DB01189)|Enflurane(DB00228)|Halothane(DB01159)|Isoflurane(DB00753)|L-Glutamic Acid(DB00142)|Methoxyflurane(DB01028)|Sevoflurane(DB01236) CTCCTGAAAAGGGTTTTTGTT 0.557000 8 34 0 0 0.00058488 0 0 abParts 0 broad.mit.edu 37 14 106877770 106877770 + RNA SNP C T T TCGA-BF-A1PZ-01A-11D-A19A-08 TCGA-BF-A1PZ-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6ef799ed-a9fa-4328-95d3-265699e16339 a8458b1d-3040-455b-ae7a-b1ac22b9f2b6 g.chr14:106877770C>T uc021ser.1 - 409 c.13155G>A Parts of antibodies, mostly variable regions. ACTCCCAATCCACTCCAGCCC 0.562000 42 17 0 0 0.000422831 0 0 KIF21B 23046 broad.mit.edu 37 1 200973950 200973950 + Missense_Mutation SNP G A A TCGA-BF-A1PZ-01A-11D-A19A-08 TCGA-BF-A1PZ-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6ef799ed-a9fa-4328-95d3-265699e16339 a8458b1d-3040-455b-ae7a-b1ac22b9f2b6 g.chr1:200973950G>A uc001gvs.2 - 5 1161 c.844C>T c.(844-846)Cgg>Tgg p.R282W KIF21B_uc009wzl.2_Missense_Mutation_p.R282W|KIF21B_uc001gvr.2_Missense_Mutation_p.R282W|KIF21B_uc010ppn.2_Missense_Mutation_p.R282W|KIF21B_uc001gvt.1_Missense_Mutation_p.R65W NM_001252100 NP_001239029 O75037 KI21B_HUMAN Homo sapiens kinesin family member 21B (KIF21B), transcript variant 1, mRNA. 282 Kinesin-motor. microtubule-based movement cytoplasm|microtubule ATP binding|microtubule motor activity autonomic_ganglia(1)|breast(4)|central_nervous_system(1)|cervix(1)|endometrium(15)|kidney(4)|large_intestine(8)|liver(1)|lung(27)|ovary(3)|pancreas(1)|prostate(5)|skin(8)|stomach(2)|urinary_tract(2) 83 GCCCCTGTCCGCTTCAGCCGC 0.602000 26 30 0 0 0.000279167 0 0 C17orf66 256957 broad.mit.edu 37 17 34190533 34190533 + Missense_Mutation SNP C T T TCGA-BF-A1PZ-01A-11D-A19A-08 TCGA-BF-A1PZ-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6ef799ed-a9fa-4328-95d3-265699e16339 a8458b1d-3040-455b-ae7a-b1ac22b9f2b6 g.chr17:34190533C>T uc002hke.1 - 6 747 c.598G>A c.(598-600)Gag>Aag p.E200K C17orf66_uc010wck.1_Non-coding_Transcript|C17orf66_uc010wcl.1_Missense_Mutation_p.E160K|C17orf66_uc010wcm.1_Missense_Mutation_p.E166K NM_152781 NP_689994 A2RTY3 CQ066_HUMAN Homo sapiens chromosome 17 open reading frame 66 (C17orf66), mRNA. 200 binding breast(3)|central_nervous_system(1)|cervix(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(6)|lung(11)|skin(2)|stomach(4) 38 Ovarian(249;0.17) UCEC - Uterine corpus endometrioid carcinoma (308;0.0184) CGGTAGGCCTCGTACTTCACT 0.488000 45 13 0 0 0.000308642 0 0 GLYAT 10249 broad.mit.edu 37 11 58477615 58477615 + Missense_Mutation SNP G A A TCGA-BF-A1PZ-01A-11D-A19A-08 TCGA-BF-A1PZ-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6ef799ed-a9fa-4328-95d3-265699e16339 a8458b1d-3040-455b-ae7a-b1ac22b9f2b6 g.chr11:58477615G>A uc001nnb.3 - 5 670 c.515C>T c.(514-516)tCc>tTc p.S172F GLYAT_uc001nnc.3_3'UTR NM_201648 NP_964011 Q6IB77 GLYAT_HUMAN Homo sapiens glycine-N-acyltransferase (GLYAT), nuclear gene encoding mitochondrial protein, transcript variant 1, mRNA. 172 acyl-CoA metabolic process|response to toxin|xenobiotic metabolic process mitochondrial matrix glycine N-acyltransferase activity|glycine N-benzoyltransferase activity NS(1)|autonomic_ganglia(1)|kidney(1)|large_intestine(3)|lung(8)|skin(1)|urinary_tract(1) 16 Breast(21;0.0044)|all_epithelial(135;0.0157) Glycine(DB00145) AACATCCATGGATGAGAGTTT 0.413000 1 15 0 0 0.000566183 0 0 FAM135B 51059 broad.mit.edu 37 8 139165247 139165247 + Missense_Mutation SNP G A A TCGA-BF-A1PZ-01A-11D-A19A-08 TCGA-BF-A1PZ-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6ef799ed-a9fa-4328-95d3-265699e16339 a8458b1d-3040-455b-ae7a-b1ac22b9f2b6 g.chr8:139165247G>A uc003yuy.3 - 12 1642 c.1471C>T c.(1471-1473)Cat>Tat p.H491Y FAM135B_uc003yux.3_Missense_Mutation_p.H392Y|FAM135B_uc003yuz.3_Non-coding_Transcript|FAM135B_uc003yva.3_Missense_Mutation_p.H53Y|FAM135B_uc003yvb.3_Missense_Mutation_p.H53Y NM_015912 NP_056996 Q49AJ0 F135B_HUMAN Homo sapiens family with sequence similarity 135, member B (FAM135B), mRNA. 491 NS(3)|breast(9)|endometrium(21)|kidney(5)|large_intestine(28)|liver(1)|lung(135)|ovary(9)|pancreas(1)|prostate(7)|skin(9)|stomach(1)|upper_aerodigestive_tract(8)|urinary_tract(1) 238 all_epithelial(106;8.29e-14)|Lung NSC(106;6.88e-06)|all_lung(105;1.44e-05)|Ovarian(258;0.00672)|Acute lymphoblastic leukemia(118;0.155) BRCA - Breast invasive adenocarcinoma(115;0.0805) ATGTCCATATGATTTTGTGTG 0.418000 HNSCC(54;0.14) 6 43 0 0 0.000147903 0 0 SCML2 10389 broad.mit.edu 37 X 18276320 18276320 + Missense_Mutation SNP G A A TCGA-BF-A1PZ-01A-11D-A19A-08 TCGA-BF-A1PZ-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6ef799ed-a9fa-4328-95d3-265699e16339 a8458b1d-3040-455b-ae7a-b1ac22b9f2b6 g.chrX:18276320G>A uc004cyl.2 - 9 1274 c.1117C>T c.(1117-1119)Ccc>Tcc p.P373S SCML2_uc004cyk.3_Non-coding_Transcript|SCML2_uc010nfd.1_Missense_Mutation_p.P373S|SCML2_uc011miz.1_Missense_Mutation_p.P307S|SCML2_uc010nfc.2_Missense_Mutation_p.P109S NM_006089 NP_006080 Q9UQR0 SCML2_HUMAN Homo sapiens sex comb on midleg-like 2 (Drosophila) (SCML2), transcript variant 1, mRNA. 373 anatomical structure morphogenesis PcG protein complex DNA binding|sequence-specific DNA binding transcription factor activity breast(4)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(11)|lung(13)|prostate(1)|skin(1)|upper_aerodigestive_tract(1) 36 Hepatocellular(33;0.183) ATTCTCTTGGGATCCAGATGA 0.478000 44 21 0 0 0.000375601 0 0 ZNF385D 79750 broad.mit.edu 37 3 21606113 21606113 + Nonsense_Mutation SNP T A A TCGA-BF-A1PZ-01A-11D-A19A-08 TCGA-BF-A1PZ-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6ef799ed-a9fa-4328-95d3-265699e16339 a8458b1d-3040-455b-ae7a-b1ac22b9f2b6 g.chr3:21606113T>A uc003cce.3 - 2 637 c.229A>T c.(229-231)Aag>Tag p.K77* ZNF385D_uc010hfb.1_Non-coding_Transcript NM_024697 NP_078973 Q9H6B1 Z385D_HUMAN Homo sapiens zinc finger protein 385D (ZNF385D), mRNA. 77 nucleus nucleic acid binding|zinc ion binding NS(2)|breast(2)|endometrium(3)|kidney(2)|large_intestine(13)|lung(18)|ovary(1)|prostate(1)|skin(4) 46 ATGATTTGCTTTCTTCGGTGG 0.323000 34 22 0 0 0.000586117 0 0 ACR 49 broad.mit.edu 37 22 51178259 51178259 + Missense_Mutation SNP G A A TCGA-BF-A1PZ-01A-11D-A19A-08 TCGA-BF-A1PZ-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6ef799ed-a9fa-4328-95d3-265699e16339 a8458b1d-3040-455b-ae7a-b1ac22b9f2b6 g.chr22:51178259G>A uc003bnh.4 + 2 431 c.419G>A c.(418-420)gGa>gAa p.G140E BC050343_uc003bng.3_5'Flank|ACR_uc010hbh.1_Missense_Mutation_p.G140E NM_001097 NP_001088 P10323 ACRO_HUMAN Homo sapiens acrosin (ACR), mRNA. 140 Peptidase S1. acrosome matrix dispersal|activation of adenylate cyclase activity acrosomal matrix|protein complex DNA binding|amidase activity|copper ion binding|drug binding|fucose binding|mannose binding|protein binding|serine-type endopeptidase activity|zinc ion binding endometrium(2)|kidney(1)|large_intestine(2)|lung(1)|skin(1) 7 all_cancers(38;8.8e-15)|all_epithelial(38;1.12e-12)|all_lung(38;3.07e-05)|Breast(42;6.27e-05)|Lung NSC(38;0.000813)|Ovarian(80;0.0221)|Hepatocellular(38;0.0691)|Lung SC(80;0.113) BRCA - Breast invasive adenocarcinoma(115;1.1e-06)|LUAD - Lung adenocarcinoma(64;0.247) GCGACAGAGGGAAATGACATT 0.507000 34 42 0 0 0.000147903 0 0 LYN 4067 broad.mit.edu 37 8 56864528 56864528 + Missense_Mutation SNP G C C TCGA-BF-A1PZ-01A-11D-A19A-08 TCGA-BF-A1PZ-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6ef799ed-a9fa-4328-95d3-265699e16339 a8458b1d-3040-455b-ae7a-b1ac22b9f2b6 g.chr8:56864528G>C uc003xsk.4 + 6 773 c.491G>C c.(490-492)aGc>aCc p.S164T LYN_uc003xsl.4_Missense_Mutation_p.S143T NM_002350 NP_002341 P07948 LYN_HUMAN Homo sapiens v-yes-1 Yamaguchi sarcoma viral related oncogene homolog (LYN), transcript variant 1, mRNA. 164 SH2. T cell costimulation|erythrocyte differentiation|interspecies interaction between organisms|leukocyte migration|platelet activation|positive regulation of cellular component movement|positive regulation of stress-activated protein kinase signaling cascade|positive regulation of tyrosine phosphorylation of STAT protein|response to DNA damage stimulus Golgi apparatus|cytosol|membrane raft|nucleus|perinuclear region of cytoplasm ATP binding|ion channel binding|non-membrane spanning protein tyrosine kinase activity|receptor signaling protein tyrosine kinase activity breast(4)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(8)|ovary(1)|upper_aerodigestive_tract(1) 22 all_lung(136;0.0555)|Lung NSC(129;0.0726)|all_epithelial(80;0.0772) Epithelial(17;0.000834)|all cancers(17;0.00598) CCCATAGGAAGCTTCTCTCTG 0.373000 15 74 0 0 0.000147903 0 0 NRAS 4893 broad.mit.edu 37 1 115256529 115256529 + Missense_Mutation SNP T C C rs11554290 TCGA-BF-A1PZ-01A-11D-A19A-08 TCGA-BF-A1PZ-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6ef799ed-a9fa-4328-95d3-265699e16339 a8458b1d-3040-455b-ae7a-b1ac22b9f2b6 g.chr1:115256529T>C uc009wgu.3 - 2 436 c.182A>G c.(181-183)cAa>cGa p.Q61R NM_002524 NP_002515 P01111 RASN_HUMAN Homo sapiens neuroblastoma RAS viral (v-ras) oncogene homolog (NRAS), mRNA. 61 Q -> K (in neuroblastoma cell).|Q -> R (in lung carcinoma cell and melanoma; dbSNP:rs11554290). Ras protein signal transduction|activation of MAPKK activity|axon guidance|blood coagulation|epidermal growth factor receptor signaling pathway|insulin receptor signaling pathway|leukocyte migration|nerve growth factor receptor signaling pathway Golgi membrane|plasma membrane GTP binding|GTPase activity p.Q61R(1713)|p.Q61K(635)|p.Q61L(370)|p.Q61H(123)|p.Q61P(46)|p.Q61E(9)|p.G60E(6)|p.Q61?(5)|p.Q61Q(3)|p.G60R(1)|p.G60>?(1)|p.Q61*(1)|p.Q61_E62>HK(1) NS(134)|adrenal_gland(9)|autonomic_ganglia(9)|biliary_tract(6)|bone(1)|breast(9)|central_nervous_system(10)|cervix(2)|endometrium(11)|eye(3)|haematopoietic_and_lymphoid_tissue(1115)|kidney(3)|large_intestine(105)|liver(10)|lung(42)|meninges(2)|ovary(7)|pancreas(5)|prostate(8)|skin(1144)|soft_tissue(37)|stomach(5)|testis(8)|thyroid(359)|upper_aerodigestive_tract(28)|urinary_tract(13) 3085 all_epithelial(7;5.11e-05)|all_lung(7;0.000179)|Lung NSC(6;0.00195)|Lung SC(450;0.211) all_cancers(81;4.64e-07)|all_epithelial(167;4.2e-07)|all_lung(203;9.97e-06)|Lung NSC(69;1.74e-05) Lung(183;0.0234)|Colorectal(144;0.0686)|COAD - Colon adenocarcinoma(174;0.111)|all cancers(265;0.112)|Epithelial(280;0.124)|LUSC - Lung squamous cell carcinoma(189;0.133) GTACTCTTCTTGTCCAGCTGT 0.458000 Q61L(C3A_LIVER)|Q61L(HEPG2_LIVER)|Q61L(HL60_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|Q61L(IPC298_SKIN)|Q61L(KMS21BM_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|Q61L(MELJUSO_SKIN)|Q61L(MHHES1_BONE)|Q61L(MOLP8_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|Q61L(OCIAML3_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|Q61P(TF1_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|Q61R(HT1197_URINARY_TRACT)|Q61R(KMS27_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|Q61R(KU1919_URINARY_TRACT)|Q61R(NCIH2347_LUNG)|Q61R(ONS76_CENTRAL_NERVOUS_SYSTEM)|Q61R(SKMEL2_SKIN)|Q61R(SW1271_LUNG)|Q61R(TT2609C02_THYROID) 50 Mis """melanoma, MM, AML, thyroid""" Noonan syndrome TSP Lung(23;0.16)|Multiple Myeloma(1;<1E-6) 13 97 0 0 0.000147903 0 0 SIGLEC1 6614 broad.mit.edu 37 20 3686463 3686463 + Missense_Mutation SNP C T T TCGA-BF-A1PZ-01A-11D-A19A-08 TCGA-BF-A1PZ-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6ef799ed-a9fa-4328-95d3-265699e16339 a8458b1d-3040-455b-ae7a-b1ac22b9f2b6 g.chr20:3686463C>T uc002wja.3 - 2 634 c.634G>A c.(634-636)Ggc>Agc p.G212S SIGLEC1_uc002wiz.4_Missense_Mutation_p.G212S|SIGLEC1_uc002wjc.3_Missense_Mutation_p.G123S NM_023068 NP_075556 Q9BZZ2 SN_HUMAN Homo sapiens sialic acid binding Ig-like lectin 1, sialoadhesin (SIGLEC1), mRNA. 212 Ig-like C2-type 1. cell-cell adhesion|cell-matrix adhesion|endocytosis|inflammatory response extracellular region|integral to membrane|plasma membrane sugar binding NS(1)|autonomic_ganglia(1)|breast(1)|central_nervous_system(4)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(5)|liver(2)|lung(24)|ovary(3)|pancreas(4)|prostate(3)|skin(8)|upper_aerodigestive_tract(1) 70 AGGATCCGGCCGTGGTCCTGC 0.622000 57 54 0 0 0.000147903 0 0 OR11L1 391189 broad.mit.edu 37 1 248004278 248004278 + Silent SNP C T T TCGA-BF-A1PZ-01A-11D-A19A-08 TCGA-BF-A1PZ-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6ef799ed-a9fa-4328-95d3-265699e16339 a8458b1d-3040-455b-ae7a-b1ac22b9f2b6 g.chr1:248004278C>T uc001idn.1 - 0 921 c.921G>A c.(919-921)agG>agA p.R307R NM_001001959 NP_001001959 Q8NGX0 O11L1_HUMAN Homo sapiens olfactory receptor, family 11, subfamily L, member 1 (OR11L1), mRNA. 307 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity NS(1)|endometrium(4)|kidney(5)|large_intestine(5)|lung(35)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 57 all_cancers(71;8.78e-05)|all_epithelial(71;9.15e-06)|Breast(184;0.0117)|Ovarian(71;0.0377)|all_lung(81;0.0786)|Lung NSC(105;0.0858) OV - Ovarian serous cystadenocarcinoma(106;0.0319) TACCACATTTCCTTCTCATGA 0.383000 104 55 0 0 0.000147903 0 0 TGM7 116179 broad.mit.edu 37 15 43571423 43571423 + Silent SNP C T T TCGA-BF-A1PZ-01A-11D-A19A-08 TCGA-BF-A1PZ-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6ef799ed-a9fa-4328-95d3-265699e16339 a8458b1d-3040-455b-ae7a-b1ac22b9f2b6 g.chr15:43571423C>T uc001zrf.1 - 10 1736 c.1731G>A c.(1729-1731)acG>acA p.T577T NM_052955 NP_443187 Q96PF1 TGM7_HUMAN Homo sapiens transglutaminase 7 (TGM7), mRNA. 577 peptide cross-linking acyltransferase activity|metal ion binding|protein-glutamine gamma-glutamyltransferase activity p.T577M(1) breast(2)|central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(3)|large_intestine(8)|lung(16)|ovary(2)|prostate(4)|skin(1) 39 all_cancers(109;2.12e-14)|all_epithelial(112;1.99e-12)|Lung NSC(122;2.46e-08)|all_lung(180;2.75e-07)|Melanoma(134;0.0476)|Colorectal(260;0.215) GBM - Glioblastoma multiforme(94;9.14e-07) L-Glutamine(DB00130) GCTTTTCGTCCGTTAGCTTGT 0.527000 16 13 0 0 0.000151284 0 0 USH2A 7399 broad.mit.edu 37 1 215901637 215901637 + Missense_Mutation SNP G A A TCGA-BF-A1PZ-01A-11D-A19A-08 TCGA-BF-A1PZ-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6ef799ed-a9fa-4328-95d3-265699e16339 a8458b1d-3040-455b-ae7a-b1ac22b9f2b6 g.chr1:215901637G>A uc001hku.1 - 60 12188 c.11801C>T c.(11800-11802)cCt>cTt p.P3934L NM_206933 NP_996816 O75445 USH2A_HUMAN Homo sapiens Usher syndrome 2A (autosomal recessive, mild) (USH2A), transcript variant 2, mRNA. 3934 Fibronectin type-III 24. maintenance of organ identity|photoreceptor cell maintenance|response to stimulus|sensory perception of sound basement membrane|cytoplasm|integral to membrane|stereocilium membrane collagen binding NS(7)|breast(20)|central_nervous_system(3)|cervix(2)|endometrium(32)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(71)|liver(2)|lung(282)|ovary(25)|pancreas(2)|prostate(12)|skin(22)|stomach(7)|upper_aerodigestive_tract(20)|urinary_tract(3) 527 OV - Ovarian serous cystadenocarcinoma(81;0.0547)|all cancers(67;0.0875) GAGTGTGAAAGGCCTCAGGGT 0.478000 HNSCC(13;0.011) 7 79 0 0 0.000147903 0 0 GALNT4 8693 broad.mit.edu 37 12 89917923 89917924 + Missense_Mutation DNP GG AA AA TCGA-BF-A1PZ-01A-11D-A19A-08 TCGA-BF-A1PZ-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6ef799ed-a9fa-4328-95d3-265699e16339 a8458b1d-3040-455b-ae7a-b1ac22b9f2b6 g.chr12:89917923_89917924GG>AA uc001tbd.3 - 0 660_661 c.403_404CC>TT c.(403-405)cct>TTt p.P135F GALNT4_uc001tba.3_Intron|GALNT4_uc001tbb.3_Intron|GALNT4_uc010sun.2_Intron|GALNT4_uc001tbc.3_Intron|GALNT4_uc001tbe.3_Missense_Mutation_p.P132F|GALNT4_uc010suo.2_Intron NM_003774 NP_003765 Q8N4A0 GALT4_HUMAN Homo sapiens UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase 4 (GalNAc-T4) (GALNT4), mRNA. 135 Catalytic subdomain A. carbohydrate metabolic process Golgi membrane|integral to membrane|perinuclear region of cytoplasm polypeptide N-acetylgalactosaminyltransferase activity|sugar binding endometrium(4)|kidney(2)|lung(5)|prostate(2)|upper_aerodigestive_tract(1) 14 AGAGGTGGTAGGAAGTGTCCTA 0.406000 OREG0022018 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 29 19 0 0 6.4e-05 0 0 FUZ 80199 broad.mit.edu 37 19 50314945 50314945 + Silent SNP C A A TCGA-BF-A1PZ-01A-11D-A19A-08 TCGA-BF-A1PZ-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6ef799ed-a9fa-4328-95d3-265699e16339 a8458b1d-3040-455b-ae7a-b1ac22b9f2b6 g.chr19:50314945C>A uc002ppq.2 - 3 534 c.330G>T c.(328-330)gtG>gtT p.V110V FUZ_uc002ppt.2_Non-coding_Transcript|FUZ_uc002ppu.2_Silent_p.V74V|FUZ_uc010ybd.2_Silent_p.V110V NM_025129 NP_079405 Q9BT04 FUZZY_HUMAN Homo sapiens fuzzy homolog (Drosophila) (FUZ), transcript variant 1, mRNA. 110 cilium assembly|embryonic body morphogenesis|embryonic skeletal system morphogenesis|establishment of planar polarity|hair follicle development|neural tube closure|protein transport|regulation of smoothened signaling pathway cytoplasm|cytoskeleton endometrium(1)|lung(3) 4 all_lung(116;1.05e-05)|Lung NSC(112;3.77e-05)|all_neural(266;0.107)|Ovarian(192;0.231) OV - Ovarian serous cystadenocarcinoma(262;0.00793)|GBM - Glioblastoma multiforme(134;0.0116) CTTCAAGTCCCACAAGAAGGA 0.537000 174 8 0.000442599 0.00721301 0.000442599 1 0 ACOX3 8310 broad.mit.edu 37 4 8417696 8417696 + Missense_Mutation SNP G A A TCGA-BF-A1PZ-01A-11D-A19A-08 TCGA-BF-A1PZ-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6ef799ed-a9fa-4328-95d3-265699e16339 a8458b1d-3040-455b-ae7a-b1ac22b9f2b6 g.chr4:8417696G>A uc010idk.3 - 2 320 c.175C>T c.(175-177)Cct>Tct p.P59S ACOX3_uc003glc.4_Missense_Mutation_p.P59S|ACOX3_uc003gld.4_Missense_Mutation_p.P59S NM_003501 NP_003492 O15254 ACOX3_HUMAN Homo sapiens acyl-CoA oxidase 3, pristanoyl (ACOX3), transcript variant 1, mRNA. 59 bile acid metabolic process|fatty acid beta-oxidation using acyl-CoA oxidase peroxisomal matrix acyl-CoA dehydrogenase activity|flavin adenine dinucleotide binding|pristanoyl-CoA oxidase activity breast(2)|central_nervous_system(1)|endometrium(4)|kidney(4)|large_intestine(9)|lung(17)|prostate(1)|skin(3)|stomach(1) 42 GCGAAAAGAGGGTCATTCTCA 0.478000 51 11 0 0 0.00010058 0 0 CRHBP 1393 broad.mit.edu 37 5 76249874 76249874 + Missense_Mutation SNP C T T TCGA-BF-A1PZ-01A-11D-A19A-08 TCGA-BF-A1PZ-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6ef799ed-a9fa-4328-95d3-265699e16339 a8458b1d-3040-455b-ae7a-b1ac22b9f2b6 g.chr5:76249874C>T uc003ker.3 + 2 476 c.196C>T c.(196-198)Ctc>Ttc p.L66F CRHBP_uc010izx.3_Missense_Mutation_p.L66F NM_001882 NP_001873 P24387 CRHBP_HUMAN Homo sapiens corticotropin releasing hormone binding protein (CRHBP), mRNA. 66 female pregnancy|learning or memory|signal transduction soluble fraction kidney(3)|large_intestine(4)|lung(6)|prostate(1)|skin(2) 16 all_lung(232;0.000414)|Lung NSC(167;0.0011)|Ovarian(174;0.0129)|Prostate(461;0.11) OV - Ovarian serous cystadenocarcinoma(54;2.17e-51)|Epithelial(54;8.79e-46)|all cancers(79;2.49e-41) CATGCTGAGCCTCCAGGGCCA 0.687000 22 138 0 0 0.000147903 0 0 SLITRK3 22865 broad.mit.edu 37 3 164907975 164907975 + Missense_Mutation SNP C T T TCGA-BF-A1PZ-01A-11D-A19A-08 TCGA-BF-A1PZ-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6ef799ed-a9fa-4328-95d3-265699e16339 a8458b1d-3040-455b-ae7a-b1ac22b9f2b6 g.chr3:164907975C>T uc003fej.4 - 1 1088 c.644G>A c.(643-645)gGa>gAa p.G215E SLITRK3_uc003fek.3_Missense_Mutation_p.G215E|SLITRK3_uc021xgy.1_Missense_Mutation_p.G215E NM_014926 NP_055741 O94933 SLIK3_HUMAN Homo sapiens SLIT and NTRK-like family, member 3 (SLITRK3), mRNA. 215 integral to membrane p.R214L(2)|p.R214R(1) NS(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(14)|lung(66)|ovary(6)|pancreas(1)|prostate(4)|skin(5)|upper_aerodigestive_tract(5) 119 ATCTAGCATTCCTCGGTAAAA 0.423000 HNSCC(40;0.11) 37 31 0 0 0.000491102 0 0 FLT3 2322 broad.mit.edu 37 13 28608112 28608112 + Silent SNP T C C rs140784892 TCGA-BF-A1PZ-01A-11D-A19A-08 TCGA-BF-A1PZ-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6ef799ed-a9fa-4328-95d3-265699e16339 a8458b1d-3040-455b-ae7a-b1ac22b9f2b6 g.chr13:28608112T>C uc001urw.3 - 14 1936 c.1854A>G c.(1852-1854)tcA>tcG p.S618S FLT3_uc010aao.3_Non-coding_Transcript|FLT3_uc010tdn.2_Silent_p.S618S NM_004119 NP_004110 P36888 FLT3_HUMAN Homo sapiens fms-related tyrosine kinase 3 (FLT3), mRNA. 618 Protein kinase. positive regulation of cell proliferation integral to plasma membrane ATP binding|vascular endothelial growth factor receptor activity p.G617_S618ins21(2) NS(1)|breast(3)|central_nervous_system(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(12329)|kidney(2)|large_intestine(8)|lung(30)|ovary(4)|prostate(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2) 12390 Acute lymphoblastic leukemia(6;0.04) Lung SC(185;0.0156)|Ovarian(182;0.0392) Colorectal(13;0.000157)|READ - Rectum adenocarcinoma(15;0.105) OV - Ovarian serous cystadenocarcinoma(117;0.00154)|all cancers(112;0.00459)|GBM - Glioblastoma multiforme(144;0.00562)|Epithelial(112;0.0959)|Lung(94;0.212) Sorafenib(DB00398)|Sunitinib(DB01268) CAAAAGCACCTGATCCTAGTA 0.403000 """Mis, O""" """AML, ALL""" 41 117 0 0 0.000147903 0 0 NRP1 8829 broad.mit.edu 37 10 33515208 33515209 + Missense_Mutation DNP CC TT TT TCGA-BF-A1PZ-01A-11D-A19A-08 TCGA-BF-A1PZ-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6ef799ed-a9fa-4328-95d3-265699e16339 a8458b1d-3040-455b-ae7a-b1ac22b9f2b6 g.chr10:33515208_33515209CC>TT uc001iwx.4 - 6 1513_1514 c.990_991GG>AA c.(988-993)ttgggc>ttAAgc p.G331S NRP1_uc001iwv.4_Missense_Mutation_p.G331S|NRP1_uc001iwy.4_Missense_Mutation_p.G331S|NRP1_uc009xlz.3_Missense_Mutation_p.G331S|NRP1_uc001iww.4_Missense_Mutation_p.G150S|NRP1_uc001iwz.2_Missense_Mutation_p.G331S|NRP1_uc001ixa.2_Missense_Mutation_p.G331S|NRP1_uc001ixb.2_Missense_Mutation_p.G331S|NRP1_uc001ixc.1_Missense_Mutation_p.G331S NM_003873 NP_003864 O14786 NRP1_HUMAN Homo sapiens neuropilin 1 (NRP1), transcript variant 1, mRNA. 331 F5/8 type C 1. axon guidance|cell adhesion|cell-cell signaling|organ morphogenesis|positive regulation of cell proliferation extracellular region|integral to membrane|plasma membrane growth factor binding|heparin binding|metal ion binding|vascular endothelial growth factor receptor activity NS(2)|breast(6)|central_nervous_system(4)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(1)|lung(16)|ovary(1)|pancreas(1)|prostate(1)|skin(3)|stomach(2) 48 Palifermin(DB00039)|Pegaptanib(DB04895) CGCAGAAGGCCCAAGTCTACCT 0.495000 23 9 0 0 6.4e-05 0 0 DDX3X 1654 broad.mit.edu 37 X 41206955 41206955 + Missense_Mutation SNP G T T TCGA-BF-A1PZ-01A-11D-A19A-08 TCGA-BF-A1PZ-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6ef799ed-a9fa-4328-95d3-265699e16339 a8458b1d-3040-455b-ae7a-b1ac22b9f2b6 g.chrX:41206955G>T uc004dfe.3 + 16 2827 c.1972G>T c.(1972-1974)Gac>Tac p.D658Y DDX3X_uc011mks.2_Missense_Mutation_p.D135Y|DDX3X_uc004dff.3_Missense_Mutation_p.D657Y|DDX3X_uc011mkq.2_Missense_Mutation_p.D642Y|DDX3X_uc011mkr.2_Missense_Mutation_p.D528Y|DDX3X_uc004dfg.3_Non-coding_Transcript NM_001356 NP_001347 O00571 DDX3X_HUMAN Homo sapiens DEAD (Asp-Glu-Ala-Asp) box polypeptide 3, X-linked (DDX3X), transcript variant 1, mRNA. 658 Gly/Ser-rich. interspecies interaction between organisms cytoplasm|nuclear speck ATP binding|ATP-dependent RNA helicase activity|DNA binding|RNA binding|protein binding NS(3)|breast(8)|central_nervous_system(36)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(4)|kidney(3)|large_intestine(3)|lung(7)|ovary(2)|pancreas(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(4)|urinary_tract(1) 84 CCAGGGGGTTGACTGGTGGGG 0.428000 HNSCC(61;0.18) 51 29 3.67414e-24 6.41926e-23 0.000409698 1 0 ABCA3 21 broad.mit.edu 37 16 2329039 2329039 + Silent SNP C T T TCGA-BF-A1PZ-01A-11D-A19A-08 TCGA-BF-A1PZ-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6ef799ed-a9fa-4328-95d3-265699e16339 a8458b1d-3040-455b-ae7a-b1ac22b9f2b6 g.chr16:2329039C>T uc002cpy.1 - 28 5164 c.4452G>A c.(4450-4452)cgG>cgA p.R1484R ABCA3_uc010bsk.1_Silent_p.R1426R NM_001089 NP_001080 Q99758 ABCA3_HUMAN Homo sapiens ATP-binding cassette, sub-family A (ABC1), member 3 (ABCA3), mRNA. 1484 ABC transporter 2. response to drug integral to membrane|lamellar body|membrane fraction|plasma membrane ATP binding|ATPase activity, coupled to transmembrane movement of substances breast(7)|central_nervous_system(4)|cervix(1)|endometrium(5)|kidney(2)|large_intestine(11)|liver(1)|lung(20)|ovary(7)|prostate(5)|skin(6)|upper_aerodigestive_tract(1) 70 Ovarian(90;0.17) CAGGGATGCCCCGGAGCCGAG 0.652000 24 14 0 0 0.000422831 0 0 MFNG 4242 broad.mit.edu 37 22 37876786 37876786 + Missense_Mutation SNP G A A TCGA-BF-A1PZ-01A-11D-A19A-08 TCGA-BF-A1PZ-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6ef799ed-a9fa-4328-95d3-265699e16339 a8458b1d-3040-455b-ae7a-b1ac22b9f2b6 g.chr22:37876786G>A uc003ass.2 - 1 540 c.277C>T c.(277-279)Cca>Tca p.P93S MFNG_uc011anj.2_Intron|MFNG_uc011ani.2_Intron|CARD10_uc003ast.1_Non-coding_Transcript NM_002405 NP_002396 O00587 MFNG_HUMAN Homo sapiens MFNG O-fucosylpeptide 3-beta-N-acetylglucosaminyltransferase (MFNG), transcript variant 1, mRNA. 93 pattern specification process extracellular space|integral to Golgi membrane O-fucosylpeptide 3-beta-N-acetylglucosaminyltransferase activity large_intestine(2)|lung(2)|skin(1) 5 Melanoma(58;0.0574) CCTTTGTCTGGGCTGTCGGTG 0.612000 14 11 0 0 3.86212e-05 0 0 EPHB2 2048 broad.mit.edu 37 1 23191380 23191380 + Silent SNP C T T TCGA-BF-A1PZ-01A-11D-A19A-08 TCGA-BF-A1PZ-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6ef799ed-a9fa-4328-95d3-265699e16339 a8458b1d-3040-455b-ae7a-b1ac22b9f2b6 g.chr1:23191380C>T uc009vqj.1 + 4 1123 c.978C>T c.(976-978)tcC>tcT p.S326S EPHB2_uc001bge.3_Silent_p.S326S|EPHB2_uc001bgf.3_Silent_p.S326S|EPHB2_uc010odu.2_Silent_p.S326S|MIR4253_uc021oic.1_5'Flank NM_017449 NP_059145 P29323 EPHB2_HUMAN Homo sapiens EPH receptor B2 (EPHB2), transcript variant 1, mRNA. 326 Fibronectin type-III 1. axon guidance integral to plasma membrane ATP binding|transmembrane-ephrin receptor activity NS(1)|breast(1)|endometrium(6)|kidney(2)|large_intestine(10)|lung(17)|ovary(4)|pancreas(2)|prostate(3)|skin(8)|stomach(1)|urinary_tract(1) 56 Colorectal(325;3.46e-05)|Lung NSC(340;3.7e-05)|all_lung(284;5.45e-05)|Renal(390;0.000228)|Breast(348;0.0027)|Ovarian(437;0.00327)|Myeloproliferative disorder(586;0.0258) UCEC - Uterine corpus endometrioid carcinoma (279;0.0348)|OV - Ovarian serous cystadenocarcinoma(117;3.67e-26)|Colorectal(126;3.23e-08)|COAD - Colon adenocarcinoma(152;9.32e-07)|GBM - Glioblastoma multiforme(114;2.93e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000606)|KIRC - Kidney renal clear cell carcinoma(1967;0.00371)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.126)|Lung(427;0.153) CCATCCCCTCCGCGCCCCAGG 0.652000 4 25 0 0 0.00047179 0 0 PLCG2 5336 broad.mit.edu 37 16 81942029 81942029 + Silent SNP C T T TCGA-BF-A1PZ-01A-11D-A19A-08 TCGA-BF-A1PZ-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6ef799ed-a9fa-4328-95d3-265699e16339 a8458b1d-3040-455b-ae7a-b1ac22b9f2b6 g.chr16:81942029C>T uc002fgt.3 + 16 1744 c.1566C>T c.(1564-1566)ccC>ccT p.P522P PLCG2_uc010chg.1_Silent_p.P522P NM_002661 NP_002652 P16885 PLCG2_HUMAN Homo sapiens phospholipase C, gamma 2 (phosphatidylinositol-specific) (PLCG2), mRNA. 522 intracellular signal transduction|phospholipid catabolic process|platelet activation plasma membrane phosphatidylinositol phospholipase C activity|protein binding|signal transducer activity NS(1)|breast(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(18)|lung(21)|ovary(1)|prostate(2)|skin(2)|urinary_tract(1) 58 AGGATATACCCCCTACAGAAC 0.542000 19 13 0 0 0.000422831 0 0 GLIPR1 11010 broad.mit.edu 37 12 75875797 75875797 + Missense_Mutation SNP G A A TCGA-BF-A1PZ-01A-11D-A19A-08 TCGA-BF-A1PZ-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6ef799ed-a9fa-4328-95d3-265699e16339 a8458b1d-3040-455b-ae7a-b1ac22b9f2b6 g.chr12:75875797G>A uc001sxs.3 + 1 506 c.358G>A c.(358-360)Gaa>Aaa p.E120K GLIPR1_uc009zsb.1_Missense_Mutation_p.E120K NM_006851 NP_006842 P48060 GLIP1_HUMAN Homo sapiens GLI pathogenesis-related 1 (GLIPR1), mRNA. 120 cellular lipid metabolic process extracellular region|integral to membrane endometrium(1)|kidney(2)|large_intestine(3)|lung(6)|ovary(1)|skin(1) 14 CTGGTATGACGAAATCCAGGA 0.453000 45 14 0 0 0.000219431 0 0 ACVR1 90 broad.mit.edu 37 2 158617533 158617533 + Missense_Mutation SNP G A A TCGA-BF-A1PZ-01A-11D-A19A-08 TCGA-BF-A1PZ-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6ef799ed-a9fa-4328-95d3-265699e16339 a8458b1d-3040-455b-ae7a-b1ac22b9f2b6 g.chr2:158617533G>A uc002tzn.3 - 8 1553 c.1123C>T c.(1123-1125)Cgt>Tgt p.R375C ACVR1_uc002tzm.3_Missense_Mutation_p.R375C|ACVR1_uc010fog.2_Missense_Mutation_p.R375C NM_001105 NP_001104537 Q04771 ACVR1_HUMAN Homo sapiens activin A receptor, type I (ACVR1), transcript variant 1, mRNA. 375 Protein kinase. R -> P (in FOP; variant phenotype). BMP signaling pathway|G1/S transition of mitotic cell cycle|negative regulation of activin receptor signaling pathway|negative regulation of apoptosis|positive regulation of bone mineralization|positive regulation of osteoblast differentiation|positive regulation of transcription, DNA-dependent|transforming growth factor beta receptor signaling pathway activin receptor complex ATP binding|SMAD binding|activin binding|follistatin binding|metal ion binding|protein homodimerization activity|transforming growth factor beta binding p.R375C(2) endometrium(4)|kidney(1)|large_intestine(4)|lung(6)|ovary(2)|skin(2) 19 BRCA - Breast invasive adenocarcinoma(221;0.104) Adenosine triphosphate(DB00171) GTGCCCACACGGGGATTGTTC 0.483000 12 12 0 0 0.000308642 0 0 KCNV2 169522 broad.mit.edu 37 9 2718835 2718835 + Missense_Mutation SNP G A A TCGA-BF-A1PZ-01A-11D-A19A-08 TCGA-BF-A1PZ-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6ef799ed-a9fa-4328-95d3-265699e16339 a8458b1d-3040-455b-ae7a-b1ac22b9f2b6 g.chr9:2718835G>A uc003zho.2 + 0 1310 c.1096G>A c.(1096-1098)Gtg>Atg p.V366M NM_133497 NP_598004 Q8TDN2 KCNV2_HUMAN Homo sapiens potassium channel, subfamily V, member 2 (KCNV2), mRNA. 366 voltage-gated potassium channel complex voltage-gated potassium channel activity p.T365M(1) NS(1)|breast(1)|central_nervous_system(3)|endometrium(5)|kidney(4)|large_intestine(7)|lung(9)|ovary(1)|prostate(2)|skin(2) 35 GBM - Glioblastoma multiforme(50;0.0257) CGGCCAGACGGTGGGCAGCGT 0.672000 2 18 0 0 0.000229342 0 0 ZNF107 51427 broad.mit.edu 37 7 64167466 64167466 + Missense_Mutation SNP C T T TCGA-BF-A1PZ-01A-11D-A19A-08 TCGA-BF-A1PZ-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6ef799ed-a9fa-4328-95d3-265699e16339 a8458b1d-3040-455b-ae7a-b1ac22b9f2b6 g.chr7:64167466C>T uc003ttd.3 + 6 1570 c.784C>T c.(784-786)Cat>Tat p.H262Y ZNF107_uc003tte.3_Missense_Mutation_p.H262Y NM_016220 NP_057304 Q9UII5 ZN107_HUMAN Homo sapiens zinc finger protein 107 (ZNF107), transcript variant 1, mRNA. 262 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding breast(1)|central_nervous_system(1)|cervix(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(10)|lung(18)|ovary(1)|stomach(1) 37 Lung NSC(55;0.00948)|all_lung(88;0.0249) TCTTACTAACCATAAGAGAAT 0.358000 19 14 0 0 0.000219431 0 0 SH3RF2 153769 broad.mit.edu 37 5 145439717 145439717 + Missense_Mutation SNP C A A TCGA-BF-A1PZ-01A-11D-A19A-08 TCGA-BF-A1PZ-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6ef799ed-a9fa-4328-95d3-265699e16339 a8458b1d-3040-455b-ae7a-b1ac22b9f2b6 g.chr5:145439717C>A uc003lnt.3 + 8 2082 c.1844C>A c.(1843-1845)cCa>cAa p.P615Q SH3RF2_uc011dbl.1_Missense_Mutation_p.P615Q|SH3RF2_uc011dbm.1_Missense_Mutation_p.P100Q|SH3RF2_uc003lnu.3_Missense_Mutation_p.P106Q|SH3RF2_uc011dbn.1_Missense_Mutation_p.P106Q|SH3RF2_uc011dbo.2_Missense_Mutation_p.P72Q NM_152550 NP_689763 Q8TEC5 SH3R2_HUMAN Homo sapiens SH3 domain containing ring finger 2 (SH3RF2), mRNA. 615 ligase activity|protein phosphatase 1 binding|zinc ion binding breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|lung(9)|ovary(1)|prostate(1)|skin(2)|stomach(1) 22 KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101) GAGCCTCTGCCAAAACCGCCC 0.552000 43 22 8.24728e-16 1.43232e-14 9.22233e-05 1 0 NOX5 79400 broad.mit.edu 37 15 69340211 69340211 + Missense_Mutation SNP C T T TCGA-BF-A1PZ-01A-11D-A19A-08 TCGA-BF-A1PZ-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6ef799ed-a9fa-4328-95d3-265699e16339 a8458b1d-3040-455b-ae7a-b1ac22b9f2b6 g.chr15:69340211C>T uc002ars.2 + 12 1900 c.1859C>T c.(1858-1860)tCc>tTc p.S620F MIR548H4_uc021spl.1_Intron|NOX5_uc002arq.2_Missense_Mutation_p.S574F|NOX5_uc002arp.2_Missense_Mutation_p.S602F|NOX5_uc010bid.2_Missense_Mutation_p.S585F|NOX5_uc010bie.2_Missense_Mutation_p.S420F|NOX5_uc002arr.2_Missense_Mutation_p.S592F|NOX5_uc010bif.2_Non-coding_Transcript NM_024505 NP_078781 Q96PH1 NOX5_HUMAN Homo sapiens NADPH oxidase, EF-hand calcium binding domain 5 (NOX5), transcript variant 1, mRNA. 620 angiogenesis|cytokine secretion|cytokinesis|electron transport chain|endothelial cell proliferation|induction of apoptosis|positive regulation of reactive oxygen species metabolic process|regulation of fusion of sperm to egg plasma membrane|regulation of proton transport|superoxide anion generation endoplasmic reticulum|integral to membrane NADP binding|calcium ion binding|electron carrier activity|flavin adenine dinucleotide binding|heme binding|hydrogen ion channel activity|superoxide-generating NADPH oxidase activity breast(3)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|liver(2)|lung(18)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1) 35 TGCCAGCACTCCTGGATCGAA 0.542000 40 26 0 0 0.000279167 0 0 TCEB3C 162699 broad.mit.edu 37 18 44555130 44555130 + Missense_Mutation SNP C T T TCGA-BF-A1PZ-01A-11D-A19A-08 TCGA-BF-A1PZ-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6ef799ed-a9fa-4328-95d3-265699e16339 a8458b1d-3040-455b-ae7a-b1ac22b9f2b6 g.chr18:44555130C>T uc010xdb.2 - 0 1320 c.1084G>A c.(1084-1086)Gtt>Att p.V362I KATNAL2_uc010dnq.1_Intron|KATNAL2_uc002lco.3_Intron NM_145653 NP_663628 Q8NG57 ELOA3_HUMAN Homo sapiens transcription elongation factor B polypeptide 3C (elongin A3) (TCEB3C), mRNA. 362 Activation domain (By similarity). regulation of transcription, DNA-dependent|transcription, DNA-dependent integral to membrane|nucleus DNA binding p.S361L(1)|p.S361*(1) NS(1)|cervix(1)|endometrium(5)|kidney(4)|large_intestine(1)|lung(16)|skin(2) 30 GGTTCAAGAACCGAGTAGGGG 0.617000 492 13 0 0 0.000422831 0 0 SLC22A13 9390 broad.mit.edu 37 3 38316117 38316117 + Silent SNP C T T TCGA-BF-A1PZ-01A-11D-A19A-08 TCGA-BF-A1PZ-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6ef799ed-a9fa-4328-95d3-265699e16339 a8458b1d-3040-455b-ae7a-b1ac22b9f2b6 g.chr3:38316117C>T uc003chz.3 + 2 559 c.505C>T c.(505-507)Ctg>Ttg p.L169L SLC22A13_uc011aym.1_Intron|SLC22A13_uc011ayn.1_Silent_p.L169L NM_004256 NP_004247 Q9Y226 S22AD_HUMAN Homo sapiens solute carrier family 22 (organic anion transporter), member 13 (SLC22A13), mRNA. 169 integral to plasma membrane organic cation transmembrane transporter activity cervix(1)|endometrium(5)|kidney(1)|large_intestine(4)|lung(7)|skin(1)|urinary_tract(1) 20 KIRC - Kidney renal clear cell carcinoma(284;0.0533)|Kidney(284;0.067) GGCCACAATCCTGGCGCAGCT 0.637000 18 9 0 0 3.86212e-05 0 0 ANKS1B 56899 broad.mit.edu 37 12 100166721 100166721 + Silent SNP C T T TCGA-BF-A1PZ-01A-11D-A19A-08 TCGA-BF-A1PZ-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6ef799ed-a9fa-4328-95d3-265699e16339 a8458b1d-3040-455b-ae7a-b1ac22b9f2b6 g.chr12:100166721C>T uc001tge.2 - 7 1524 c.1107G>A c.(1105-1107)ggG>ggA p.G369G ANKS1B_uc001tgf.2_Intron|ANKS1B_uc009ztt.1_Silent_p.G335G NM_152788 NP_690001 Q7Z6G8 ANS1B_HUMAN Homo sapiens ankyrin repeat and sterile alpha motif domain containing 1B (ANKS1B), transcript variant 1, mRNA. 369 Cajal body|cell junction|cytoplasm|dendritic spine|postsynaptic density|postsynaptic membrane NS(1)|breast(1)|cervix(1)|endometrium(4)|kidney(6)|large_intestine(15)|lung(38)|pancreas(1)|prostate(2)|skin(1) 70 all_cancers(3;0.0197)|all_epithelial(3;0.0101)|Esophageal squamous(3;0.0559)|Breast(359;0.209) OV - Ovarian serous cystadenocarcinoma(2;2.89e-08)|Epithelial(2;6.12e-08)|all cancers(2;4.07e-06) TTCCATTTTTCCCAAGTTCTT 0.408000 50 28 0 0 0.000491102 0 0 ARSG 22901 broad.mit.edu 37 17 66352868 66352868 + Missense_Mutation SNP T G G TCGA-BF-A1PZ-01A-11D-A19A-08 TCGA-BF-A1PZ-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6ef799ed-a9fa-4328-95d3-265699e16339 a8458b1d-3040-455b-ae7a-b1ac22b9f2b6 g.chr17:66352868T>G uc002jhc.2 + 5 1423 c.627T>G c.(625-627)atT>atG p.I209M NM_014960 NP_055775 Q96EG1 ARSG_HUMAN Homo sapiens arylsulfatase G (ARSG), mRNA. 209 sulfur compound metabolic process endoplasmic reticulum|extracellular space|lysosome arylsulfatase activity|metal ion binding NS(2)|endometrium(3)|kidney(1)|large_intestine(8)|lung(8)|ovary(1)|prostate(1)|stomach(1)|urinary_tract(1) 26 BRCA - Breast invasive adenocarcinoma(8;5.34e-07)|LUSC - Lung squamous cell carcinoma(166;0.24) ACCTCAACATTGTGGAGCAGC 0.512000 35 17 0 0 7.07596e-05 0 0 DOCK10 55619 broad.mit.edu 37 2 225630519 225630519 + Silent SNP C T T TCGA-BF-A1PZ-01A-11D-A19A-08 TCGA-BF-A1PZ-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6ef799ed-a9fa-4328-95d3-265699e16339 a8458b1d-3040-455b-ae7a-b1ac22b9f2b6 g.chr2:225630519C>T uc010fwz.1 - 55 6719 c.6480G>A c.(6478-6480)gtG>gtA p.V2160V DOCK10_uc002vob.2_Silent_p.V2154V|DOCK10_uc002voa.2_Missense_Mutation_p.G842R NM_014689 NP_055504 Q96BY6 DOC10_HUMAN Homo sapiens dedicator of cytokinesis 10 (DOCK10), mRNA. 2160 GTP binding p.Q2160H(1) NS(1)|breast(3)|cervix(1)|endometrium(6)|kidney(10)|large_intestine(16)|lung(40)|ovary(2)|pancreas(1)|prostate(2)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1) 87 Renal(207;0.0113)|all_lung(227;0.0486)|Lung NSC(271;0.0653)|all_hematologic(139;0.14) Epithelial(121;2.37e-10)|all cancers(144;2.26e-07)|Lung(261;0.0143)|LUSC - Lung squamous cell carcinoma(224;0.0178) AGGTTTGGTCCACTCCGCGCT 0.488000 11 18 0 0 0.000132079 0 0 FCRLA 84824 broad.mit.edu 37 1 161681011 161681012 + Nonsense_Mutation DNP CC TT TT TCGA-BF-A1PZ-01A-11D-A19A-08 TCGA-BF-A1PZ-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6ef799ed-a9fa-4328-95d3-265699e16339 a8458b1d-3040-455b-ae7a-b1ac22b9f2b6 g.chr1:161681011_161681012CC>TT uc001gbe.3 + 3 557_558 c.315_316CC>TT c.(313-318)ctccaa>ctTTaa p.Q106* FCRLA_uc001gbg.3_Intron|FCRLA_uc009wup.3_Intron|FCRLA_uc009wuq.3_Intron|FCRLA_uc001gbd.3_Nonsense_Mutation_p.Q100*|FCRLA_uc001gbf.3_Intron|FCRLA_uc009wuo.3_Intron NM_001184866 NP_001171795 Q7L513 FCRLA_HUMAN Homo sapiens Fc receptor-like A (FCRLA), transcript variant 1, mRNA. 83 Ig-like C2-type 1. cell differentiation cytoplasm|extracellular region breast(1)|kidney(12)|large_intestine(4)|lung(13)|prostate(1)|skin(2)|stomach(1) 34 all_cancers(52;2.55e-15)|all_hematologic(112;0.0359) BRCA - Breast invasive adenocarcinoma(70;0.00301) GGCTGATCCTCCAAGGTCCAGC 0.589000 2 29 0 0 6.4e-05 0 0 LARP4B 23185 broad.mit.edu 37 10 931637 931638 + Missense_Mutation DNP CC TT TT TCGA-BF-A1PZ-01A-11D-A19A-08 TCGA-BF-A1PZ-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6ef799ed-a9fa-4328-95d3-265699e16339 a8458b1d-3040-455b-ae7a-b1ac22b9f2b6 g.chr10:931637_931638CC>TT uc001ifs.1 - 0 65_66 c.24_25GG>AA c.(22-27)aaggtt>aaAAtt p.V9I NM_015155 NP_055970 Q92615 LAR4B_HUMAN Homo sapiens La ribonucleoprotein domain family, member 4B (LARP4B), mRNA. 9 RNA binding|nucleotide binding NS(1)|breast(2)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(13)|lung(13)|ovary(2)|skin(2)|urinary_tract(2) 38 TCAGCCACAACCTTAGCGTCCT 0.515000 31 23 0 0 6.4e-05 0 0 SHROOM3 57619 broad.mit.edu 37 4 77670181 77670182 + Missense_Mutation DNP GG TT TT TCGA-BF-A1PZ-01A-11D-A19A-08 TCGA-BF-A1PZ-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6ef799ed-a9fa-4328-95d3-265699e16339 a8458b1d-3040-455b-ae7a-b1ac22b9f2b6 g.chr4:77670181_77670182GG>TT uc011cbx.2 + 5 4718_4719 c.3765_3766GG>TT c.(3763-3768)ttgggg>ttTTgg p.1255_1256LG>FW SHROOM3_uc003hkg.3_Missense_Mutation_p.1033_1034LG>FW NM_020859 NP_065910 Q8TF72 SHRM3_HUMAN Homo sapiens shroom family member 3 (SHROOM3), mRNA. 1255 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) ATGTGCTTTTGGGGCAAGACAG 0.431000 198 8 0 0 6.4e-05 0 0 AHNAK 79026 broad.mit.edu 37 11 62288477 62288477 + Missense_Mutation SNP G T T TCGA-BF-A1PZ-01A-11D-A19A-08 TCGA-BF-A1PZ-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6ef799ed-a9fa-4328-95d3-265699e16339 a8458b1d-3040-455b-ae7a-b1ac22b9f2b6 g.chr11:62288477G>T uc001ntl.3 - 4 13712 c.13412C>A c.(13411-13413)cCc>cAc p.P4471H AHNAK_uc001ntk.1_Intron NM_001620 NP_001611 Q09666 AHNK_HUMAN Homo sapiens AHNAK nucleoprotein (AHNAK), transcript variant 1, mRNA. 4471 nervous system development nucleus protein binding NS(3)|autonomic_ganglia(1)|breast(10)|central_nervous_system(5)|endometrium(17)|haematopoietic_and_lymphoid_tissue(2)|kidney(33)|large_intestine(40)|liver(1)|lung(108)|ovary(13)|pancreas(4)|prostate(5)|skin(16)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(6) 268 Melanoma(852;0.155) CTTCACCTTGGGACCTTTCAG 0.463000 136 7 0.000442599 0.00721301 0.000442599 1 0 FAM114A2 10827 broad.mit.edu 37 5 153374484 153374484 + Silent SNP G A A TCGA-BF-A1PZ-01A-11D-A19A-08 TCGA-BF-A1PZ-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6ef799ed-a9fa-4328-95d3-265699e16339 a8458b1d-3040-455b-ae7a-b1ac22b9f2b6 g.chr5:153374484G>A uc003lvd.3 - 13 1520 c.1378C>T c.(1378-1380)Cta>Tta p.L460L FAM114A2_uc003lvb.3_Silent_p.L460L|FAM114A2_uc003lve.3_Silent_p.L276L|FAM114A2_uc011dda.2_Silent_p.L390L|FAM114A2_uc003lvc.3_Silent_p.L460L NM_018691 NP_061161 Q9NRY5 F1142_HUMAN Homo sapiens family with sequence similarity 114, member A2 (FAM114A2), mRNA. 460 purine nucleotide binding NS(1)|breast(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(1)|lung(9)|skin(1)|urinary_tract(1) 18 CTAACCTCTAGAAATACTGCA 0.328000 4 55 0 0 0.000147903 0 0 FRMD5 84978 broad.mit.edu 37 15 44202087 44202087 + Silent SNP G A A TCGA-BF-A1PZ-01A-11D-A19A-08 TCGA-BF-A1PZ-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6ef799ed-a9fa-4328-95d3-265699e16339 a8458b1d-3040-455b-ae7a-b1ac22b9f2b6 g.chr15:44202087G>A uc001ztl.3 - 4 597 c.420C>T c.(418-420)atC>atT p.I140I FRMD5_uc001ztj.1_5'UTR|FRMD5_uc001ztk.1_Silent_p.I51I|FRMD5_uc001ztm.3_5'UTR|FRMD5_uc001ztn.3_5'UTR NM_032892 NP_116281 Q7Z6J6 FRMD5_HUMAN Homo sapiens FERM domain containing 5 (FRMD5), transcript variant 2, mRNA. 140 FERM. cytoplasm|cytoskeleton|extrinsic to membrane|integral to membrane cytoskeletal protein binding breast(2)|cervix(1)|endometrium(2)|large_intestine(1)|lung(5)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1) 14 all_cancers(109;2.29e-15)|all_epithelial(112;9.98e-13)|Lung NSC(122;4.89e-08)|all_lung(180;5.08e-07)|Melanoma(134;0.0275) all cancers(107;8.63e-20)|GBM - Glioblastoma multiforme(94;3.63e-06) TACCTTGAAGGATGTAAGCTG 0.403000 29 27 0 0 0.000409698 0 0 EVI2B 2124 broad.mit.edu 37 17 29632632 29632632 + Missense_Mutation SNP G A A TCGA-BF-A1PZ-01A-11D-A19A-08 TCGA-BF-A1PZ-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6ef799ed-a9fa-4328-95d3-265699e16339 a8458b1d-3040-455b-ae7a-b1ac22b9f2b6 g.chr17:29632632G>A uc010csq.2 - 2 224 c.41C>T c.(40-42)tCt>tTt p.S14F NF1_uc002hgg.3_Intron|NF1_uc002hgh.3_Intron|NF1_uc002hgi.1_Intron|NF1_uc010cso.3_Intron|EVI2B_uc002hgk.2_5'UTR|EVI2B_uc021tuk.1_5'Flank NM_006495 NP_006486 P34910 EVI2B_HUMAN Homo sapiens ecotropic viral integration site 2B (EVI2B), mRNA. 0 cytoplasm|integral to plasma membrane p.0?(8)|p.?(3) breast(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(4)|ovary(2)|urinary_tract(1) 12 all_cancers(10;6.97e-11)|all_epithelial(10;0.0051)|all_hematologic(16;0.0149)|Breast(31;0.0155)|Myeloproliferative disorder(56;0.0255)|Acute lymphoblastic leukemia(14;0.0257)|all_lung(9;0.0468)|Lung NSC(157;0.094) UCEC - Uterine corpus endometrioid carcinoma (4;6.64e-05)|all cancers(4;6.88e-13)|Epithelial(4;8.95e-12)|OV - Ovarian serous cystadenocarcinoma(4;1.01e-11)|GBM - Glioblastoma multiforme(4;0.184) ATCCATTTCAGAATATTTCCT 0.323000 32 20 0 0 0.000175454 0 0 DNAH2 146754 broad.mit.edu 37 17 7681746 7681746 + Missense_Mutation SNP G A A TCGA-BF-A1PZ-01A-11D-A19A-08 TCGA-BF-A1PZ-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6ef799ed-a9fa-4328-95d3-265699e16339 a8458b1d-3040-455b-ae7a-b1ac22b9f2b6 g.chr17:7681746G>A uc002giu.1 + 33 5514 c.5500G>A c.(5500-5502)Gac>Aac p.D1834N NM_020877 NP_065928 Q9P225 DYH2_HUMAN Homo sapiens dynein, axonemal, heavy chain 2 (DNAH2), mRNA. 1834 AAA 1 (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) TGAGGGCCTGGACTACAAGTC 0.567000 5 16 0 0 0.000566183 0 0 DOPEY2 9980 broad.mit.edu 37 21 37600017 37600017 + Missense_Mutation SNP C T T TCGA-BF-A1PZ-01A-11D-A19A-08 TCGA-BF-A1PZ-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6ef799ed-a9fa-4328-95d3-265699e16339 a8458b1d-3040-455b-ae7a-b1ac22b9f2b6 g.chr21:37600017C>T uc002yvg.3 + 12 1586 c.1507C>T c.(1507-1509)Cct>Tct p.P503S DOPEY2_uc011aeb.2_Missense_Mutation_p.P503S NM_005128 NP_005119 Q9Y3R5 DOP2_HUMAN Homo sapiens dopey family member 2 (DOPEY2), mRNA. 503 Golgi to endosome transport|endoplasmic reticulum organization|multicellular organismal development|protein transport Golgi membrane autonomic_ganglia(1)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(5)|kidney(5)|large_intestine(6)|lung(25)|ovary(2)|prostate(3)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 58 CCAGTATCTCCCTCAGGTGCT 0.478000 28 25 0 0 0.000117367 0 0 HIST1H1B 3009 broad.mit.edu 37 6 27834907 27834907 + Missense_Mutation SNP G A A TCGA-BF-A1PZ-01A-11D-A19A-08 TCGA-BF-A1PZ-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6ef799ed-a9fa-4328-95d3-265699e16339 a8458b1d-3040-455b-ae7a-b1ac22b9f2b6 g.chr6:27834907G>A uc003njx.3 - 0 453 c.401C>T c.(400-402)cCc>cTc p.P134L NM_005322 NP_005313 P16401 H15_HUMAN Homo sapiens histone cluster 1, H1b (HIST1H1B), mRNA. 134 nucleosome assembly nucleosome|nucleus DNA binding endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(5)|lung(12)|prostate(2)|upper_aerodigestive_tract(2) 24 GGCCCCCGCGGGCTTCTTAGC 0.617000 19 132 0 0 0.000147903 0 0 PCDH8 5100 broad.mit.edu 37 13 53418908 53418909 + Missense_Mutation DNP CC TT TT TCGA-BF-A1PZ-01A-11D-A19A-08 TCGA-BF-A1PZ-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6ef799ed-a9fa-4328-95d3-265699e16339 a8458b1d-3040-455b-ae7a-b1ac22b9f2b6 g.chr13:53418908_53418909CC>TT uc001vhi.3 - 2 3203_3204 c.2999_3000GG>AA c.(2998-3000)agg>aAA p.R1000K PCDH8_uc001vhj.3_Missense_Mutation_p.R903K NM_002590 NP_002581 O95206 PCDH8_HUMAN Homo sapiens protocadherin 8 (PCDH8), transcript variant 1, mRNA. 1000 cell-cell signaling|homophilic cell adhesion cell junction|dendrite|integral to plasma membrane|postsynaptic membrane|presynaptic membrane calcium ion binding breast(1)|central_nervous_system(2)|endometrium(2)|large_intestine(5)|lung(23)|ovary(1)|skin(1)|urinary_tract(1) 36 Lung NSC(96;0.0019)|Breast(56;0.00235)|Hepatocellular(98;0.065)|Prostate(109;0.0771)|all_neural(104;0.173) GBM - Glioblastoma multiforme(99;2.19e-08) AGTAATTGTCCCTGCGCAGAGG 0.579000 34 5 0 0 6.4e-05 0 0 STARD3 10948 broad.mit.edu 37 17 37818531 37818531 + Silent SNP C T T TCGA-BF-A1PZ-01A-11D-A19A-08 TCGA-BF-A1PZ-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6ef799ed-a9fa-4328-95d3-265699e16339 a8458b1d-3040-455b-ae7a-b1ac22b9f2b6 g.chr17:37818531C>T uc002hsd.3 + 13 1370 c.1167C>T c.(1165-1167)atC>atT p.I389I STARD3_uc010wei.2_Silent_p.I389I|STARD3_uc002hse.3_Silent_p.I371I|STARD3_uc010weh.2_Non-coding_Transcript|STARD3_uc002hsf.3_Silent_p.I255I NM_006804 NP_006795 Q14849 STAR3_HUMAN Homo sapiens StAR-related lipid transfer (START) domain containing 3 (STARD3), transcript variant 1, mRNA. 389 START. cholesterol metabolic process|mitochondrial transport|steroid biosynthetic process integral to membrane|late endosome membrane cholesterol binding|cholesterol transporter activity endometrium(1)|kidney(1)|large_intestine(2)|lung(6)|pancreas(1)|prostate(2)|stomach(1) 14 Lung NSC(9;1.15e-09)|all_lung(9;6.24e-09)|Colorectal(19;0.000442)|Esophageal squamous(10;0.052) UCEC - Uterine corpus endometrioid carcinoma (11;0.000126)|BRCA - Breast invasive adenocarcinoma(8;1.04e-44)|Lung(15;0.00193)|LUAD - Lung adenocarcinoma(14;0.0664)|LUSC - Lung squamous cell carcinoma(15;0.171) GGGGCTTCATCGTGCTCAAGT 0.587000 8 11 0 0 0.000151284 0 0 SMEK2 57223 broad.mit.edu 37 2 55826001 55826001 + Missense_Mutation SNP G T T rs143951318 TCGA-BF-A1PZ-01A-11D-A19A-08 TCGA-BF-A1PZ-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6ef799ed-a9fa-4328-95d3-265699e16339 a8458b1d-3040-455b-ae7a-b1ac22b9f2b6 g.chr2:55826001G>T uc002rzc.3 - 3 1164 c.472C>A c.(472-474)Cgt>Agt p.R158S SMEK2_uc002rzb.3_Missense_Mutation_p.R158S|SMEK2_uc002rzd.3_Missense_Mutation_p.R158S|SMEK2_uc002rza.3_Missense_Mutation_p.R34S NM_001122964 NP_001116436 Q5MIZ7 P4R3B_HUMAN Homo sapiens SMEK homolog 2, suppressor of mek1 (Dictyostelium) (SMEK2), transcript variant 1, mRNA. 158 microtubule organizing center|nucleus protein binding kidney(1)|large_intestine(4)|liver(1)|lung(7)|ovary(1)|prostate(1)|skin(1) 16 LUSC - Lung squamous cell carcinoma(58;0.127)|Lung(47;0.132) TTTTCCCTACGGATAGGTGAG 0.433000 124 7 0.000157383 0.00263878 0.000157383 1 0 LPP 4026 broad.mit.edu 37 3 188327486 188327486 + Missense_Mutation SNP C T T TCGA-BF-A1PZ-01A-11D-A19A-08 TCGA-BF-A1PZ-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6ef799ed-a9fa-4328-95d3-265699e16339 a8458b1d-3040-455b-ae7a-b1ac22b9f2b6 g.chr3:188327486C>T uc003frs.2 + 5 1213 c.967C>T c.(967-969)Cca>Tca p.P323S LPP_uc011bsg.2_Intron|LPP_uc011bsi.2_Missense_Mutation_p.P323S|LPP_uc003frt.3_Missense_Mutation_p.P323S|LPP_uc011bsj.2_Missense_Mutation_p.P160S NM_005578 NP_005569 Q93052 LPP_HUMAN Homo sapiens LIM domain containing preferred translocation partner in lipoma (LPP), transcript variant 1, mRNA. 323 Pro-rich. cell adhesion cytoplasm|focal adhesion|nucleus protein binding|zinc ion binding HMGA2/LPP(161) NS(1)|breast(1)|large_intestine(3)|lung(2)|ovary(1)|upper_aerodigestive_tract(2) 10 all_cancers(143;1.37e-09)|all_hematologic(3;0.0429)|Ovarian(172;0.088) all_lung(153;0.00139)|Lung NSC(153;0.00202) GBM - Glioblastoma multiforme(93;0.00602) ACAAGGTCACCCAAATACCTG 0.542000 T """HMGA2, MLL, C12orf9""" """lipoma, leukemia""" 14 13 0 0 0.000308642 0 0 ADCY8 114 broad.mit.edu 37 8 131812710 131812710 + Silent SNP G A A TCGA-BF-A1PZ-01A-11D-A19A-08 TCGA-BF-A1PZ-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6ef799ed-a9fa-4328-95d3-265699e16339 a8458b1d-3040-455b-ae7a-b1ac22b9f2b6 g.chr8:131812710G>A uc003ytd.4 - 14 3278 c.3022C>T c.(3022-3024)Ctg>Ttg p.L1008L ADCY8_uc010mds.3_Silent_p.L877L NM_001115 NP_001106 P40145 ADCY8_HUMAN Homo sapiens adenylate cyclase 8 (brain) (ADCY8), mRNA. 1008 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) AGCAAGCGCAGGCATTCCACT 0.443000 HNSCC(32;0.087) 14 86 0 0 0.000147903 0 0 RBM28 55131 broad.mit.edu 37 7 127963633 127963633 + Missense_Mutation SNP C A A TCGA-BF-A1PZ-01A-11D-A19A-08 TCGA-BF-A1PZ-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6ef799ed-a9fa-4328-95d3-265699e16339 a8458b1d-3040-455b-ae7a-b1ac22b9f2b6 g.chr7:127963633C>A uc003vmp.2 - 12 1466 c.1351G>T c.(1351-1353)Ggg>Tgg p.G451W RBM28_uc011koj.1_Missense_Mutation_p.G310W NM_018077 NP_060547 Q9NW13 RBM28_HUMAN Homo sapiens RNA binding motif protein 28 (RBM28), transcript variant 1, mRNA. 451 RNA splicing|mRNA processing Golgi apparatus|nucleolus|spliceosomal complex RNA binding|nucleotide binding breast(1)|kidney(7)|large_intestine(3)|lung(8)|ovary(2) 21 GCCTTCGTCCCAGCACGAATC 0.463000 128 7 8.12818e-05 0.0013747 8.12818e-05 1 0 PRDM11 56981 broad.mit.edu 37 11 45246334 45246334 + Missense_Mutation SNP C T T TCGA-BF-A1PZ-01A-11D-A19A-08 TCGA-BF-A1PZ-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6ef799ed-a9fa-4328-95d3-265699e16339 a8458b1d-3040-455b-ae7a-b1ac22b9f2b6 g.chr11:45246334C>T uc001myo.3 + 7 1660 c.1411C>T c.(1411-1413)Cct>Tct p.P471S NM_020229 NP_064614 Q9NQV5 PRD11_HUMAN Homo sapiens PR domain containing 11 (PRDM11), mRNA. 471 endometrium(3)|kidney(3)|large_intestine(5)|lung(10)|prostate(1)|skin(2)|upper_aerodigestive_tract(2) 26 TGGGAAACTTCCTGAGCCCCC 0.512000 11 75 0 0 0.000147903 0 0 ENPP1 5167 broad.mit.edu 37 6 132206095 132206095 + Missense_Mutation SNP C T T TCGA-BF-A1PZ-01A-11D-A19A-08 TCGA-BF-A1PZ-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6ef799ed-a9fa-4328-95d3-265699e16339 a8458b1d-3040-455b-ae7a-b1ac22b9f2b6 g.chr6:132206095C>T uc011ecf.2 + 22 2356 c.2336C>T c.(2335-2337)aCc>aTc p.T779I NM_006208 NP_006199 P22413 ENPP1_HUMAN Homo sapiens ectonucleotide pyrophosphatase/phosphodiesterase 1 (ENPP1), mRNA. 779 Nuclease. T -> P (in dbSNP:rs1805138). 3'-phosphoadenosine 5'-phosphosulfate metabolic process|biomineral tissue development|cellular phosphate ion homeostasis|cellular response to insulin stimulus|generation of precursor metabolites and energy|immune response|inorganic diphosphate transport|negative regulation of cell growth|negative regulation of fat cell differentiation|negative regulation of glucose import|negative regulation of glycogen biosynthetic process|negative regulation of insulin receptor signaling pathway|negative regulation of protein autophosphorylation|nucleoside triphosphate catabolic process|phosphate metabolic process|sequestering of triglyceride|water-soluble vitamin metabolic process basolateral plasma membrane|cell surface|extracellular space|integral to membrane ATP binding|insulin receptor binding|metal ion binding|nucleic acid binding|nucleoside-triphosphate diphosphatase activity|nucleotide diphosphatase activity|phosphodiesterase I activity|polysaccharide binding|protein homodimerization activity|scavenger receptor activity autonomic_ganglia(1)|breast(2)|endometrium(1)|kidney(3)|large_intestine(8)|lung(22)|ovary(2)|prostate(2)|skin(3)|upper_aerodigestive_tract(2) 46 Breast(56;0.0505) GBM - Glioblastoma multiforme(226;0.0216)|OV - Ovarian serous cystadenocarcinoma(155;0.022) Amifostine(DB01143)|Ribavirin(DB00811) TTTCATGACACCCTACTGCGA 0.393000 6 22 0 0 9.22233e-05 0 0 SMPD4 55627 broad.mit.edu 37 2 130910948 130910948 + Missense_Mutation SNP G A A TCGA-BF-A1PZ-01A-11D-A19A-08 TCGA-BF-A1PZ-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6ef799ed-a9fa-4328-95d3-265699e16339 a8458b1d-3040-455b-ae7a-b1ac22b9f2b6 g.chr2:130910948G>A uc002tqq.2 - 17 3235 c.2086C>T c.(2086-2088)Ccc>Tcc p.P696S SMPD4_uc002tqo.2_Missense_Mutation_p.P228S|SMPD4_uc002tqp.2_Missense_Mutation_p.P435S|SMPD4_uc010yzy.2_Missense_Mutation_p.P445S|SMPD4_uc010yzz.2_Missense_Mutation_p.P360S|SMPD4_uc002tqs.2_Missense_Mutation_p.P564S|SMPD4_uc002tqr.2_Missense_Mutation_p.P667S|SMPD4_uc010zaa.2_Missense_Mutation_p.P554S|SMPD4_uc010zab.2_Missense_Mutation_p.P594S|SMPD4_uc002tqt.2_Missense_Mutation_p.P545S|SMPD4_uc010zac.2_Missense_Mutation_p.P437S|SMPD4_uc010zad.2_Missense_Mutation_p.P332S NM_017951 NP_060421 Q9NXE4 NSMA3_HUMAN Homo sapiens sphingomyelin phosphodiesterase 4, neutral membrane (neutral sphingomyelinase-3) (SMPD4), transcript variant 2, mRNA. 657 sphingomyelin catabolic process Golgi membrane|endoplasmic reticulum membrane|integral to membrane|trans-Golgi network metal ion binding|protein binding|sphingomyelin phosphodiesterase D activity|sphingomyelin phosphodiesterase activity breast(2)|central_nervous_system(1)|endometrium(3)|large_intestine(2)|lung(17)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2) 29 Colorectal(110;0.1) Phosphatidylserine(DB00144) ATGCAGTCGGGGAGTTGCTTT 0.627000 25 17 0 0 0.000566183 0 0 FSHR 2492 broad.mit.edu 37 2 49381553 49381554 + Missense_Mutation DNP CC TT TT TCGA-BF-A1PZ-01A-11D-A19A-08 TCGA-BF-A1PZ-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6ef799ed-a9fa-4328-95d3-265699e16339 a8458b1d-3040-455b-ae7a-b1ac22b9f2b6 g.chr2:49381553_49381554CC>TT uc002rww.3 - 0 113_114 c.3_4GG>AA c.(1-6)atggcc>atAAcc p.1_2MA>IT FSHR_uc010fbn.3_Missense_Mutation_p.1_2MA>IT|FSHR_uc002rwx.3_Missense_Mutation_p.1_2MA>IT|FSHR_uc010fbo.2_Non-coding_Transcript NM_000145 NP_000136 P23945 FSHR_HUMAN Homo sapiens follicle stimulating hormone receptor (FSHR), transcript variant 1, mRNA. 1 female gamete generation|male gonad development|spermatogenesis integral to membrane|plasma membrane follicle-stimulating hormone receptor activity|protein binding NS(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(10)|liver(1)|lung(45)|ovary(4)|pancreas(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2) 73 all_hematologic(82;0.152)|Acute lymphoblastic leukemia(82;0.181) Lung(47;0.101)|LUSC - Lung squamous cell carcinoma(58;0.151) Choriogonadotropin alfa(DB00097)|Follitropin beta(DB00066)|Menotropins(DB00032)|Urofollitropin(DB00094) AGGAGCAGGGCCATAATTATGC 0.485000 Gonadal Dysgenesis, 46 XX 6 6 0 0 6.4e-05 0 0 TCRBV21S1 0 broad.mit.edu 37 7 142223993 142223993 + Silent SNP C T T TCGA-BF-A1PZ-01A-11D-A19A-08 TCGA-BF-A1PZ-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6ef799ed-a9fa-4328-95d3-265699e16339 a8458b1d-3040-455b-ae7a-b1ac22b9f2b6 g.chr7:142223993C>T uc003vyi.2 - 1 191 c.174G>A c.(172-174)ctG>ctA p.L58L TRBV5-1_uc011krr.1_Intron|BV13S6J2.1_uc011krx.2_Intron|BV13S6J2.1_uc011ksa.2_Intron SubName: Full=V_segment translation product; Flags: Fragment; GGCCCTGTCCCAGGATCTGCC 0.488000 19 17 0 0 0.000175454 0 0 ANKRD30A 91074 broad.mit.edu 37 10 37422873 37422873 + Missense_Mutation SNP G A A TCGA-BF-A1PZ-01A-11D-A19A-08 TCGA-BF-A1PZ-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6ef799ed-a9fa-4328-95d3-265699e16339 a8458b1d-3040-455b-ae7a-b1ac22b9f2b6 g.chr10:37422873G>A uc021ppc.1 + 4 578 c.479G>A c.(478-480)gGa>gAa p.G160E ANKRD30A_uc001iza.1_Missense_Mutation_p.G160E NM_052997 NP_443723 Q9BXX3 AN30A_HUMAN Homo sapiens ankyrin repeat domain 30A (ANKRD30A), mRNA. 216 nucleus DNA binding|sequence-specific DNA binding transcription factor activity NS(1)|breast(8)|endometrium(14)|kidney(21)|large_intestine(13)|lung(70)|ovary(8)|pancreas(1)|prostate(3)|skin(15)|stomach(1)|urinary_tract(3) 158 GTATGTCATGGATCATCAGAG 0.378000 69 47 0 0 0.000147903 0 0 NCAPD3 23310 broad.mit.edu 37 11 134050977 134050977 + Silent SNP G A A TCGA-BF-A1PZ-01A-11D-A19A-08 TCGA-BF-A1PZ-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6ef799ed-a9fa-4328-95d3-265699e16339 a8458b1d-3040-455b-ae7a-b1ac22b9f2b6 g.chr11:134050977G>A uc001qhd.1 - 19 3160 c.2554C>T c.(2554-2556)Ctg>Ttg p.L852L NCAPD3_uc010scm.1_Non-coding_Transcript|NCAPD3_uc009zda.1_Non-coding_Transcript NM_015261 NP_056076 P42695 CNDD3_HUMAN Homo sapiens non-SMC condensin II complex, subunit D3 (NCAPD3), mRNA. 852 cell division|mitotic chromosome condensation nuclear centromeric heterochromatin|nuclear condensin complex methylated histone residue binding NS(1)|breast(3)|central_nervous_system(2)|cervix(2)|endometrium(10)|kidney(5)|large_intestine(9)|liver(1)|lung(28)|ovary(3)|prostate(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 71 all_hematologic(175;0.127) all_cancers(12;1.68e-21)|all_epithelial(12;5.86e-16)|all_lung(97;1.19e-05)|Lung NSC(97;2.76e-05)|Breast(109;0.000182)|Medulloblastoma(222;0.0245)|all_neural(223;0.0505)|Esophageal squamous(93;0.0559) Epithelial(10;8.74e-10)|BRCA - Breast invasive adenocarcinoma(10;1e-08)|all cancers(11;1.46e-08)|OV - Ovarian serous cystadenocarcinoma(99;0.00345)|Lung(977;0.227) CTTACCAACAGGTCTTCGTCC 0.458000 3 27 0 0 0.000279167 0 0 BMX 660 broad.mit.edu 37 X 15540570 15540570 + Silent SNP C T T TCGA-BF-A1PZ-01A-11D-A19A-08 TCGA-BF-A1PZ-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6ef799ed-a9fa-4328-95d3-265699e16339 a8458b1d-3040-455b-ae7a-b1ac22b9f2b6 g.chrX:15540570C>T uc004cww.3 + 6 800 c.612C>T c.(610-612)tcC>tcT p.S204S BMX_uc004cwx.4_Silent_p.S204S|BMX_uc004cwy.4_Silent_p.S204S NM_203281 NP_975010 P51813 BMX_HUMAN Homo sapiens BMX non-receptor tyrosine kinase (BMX), transcript variant 1, mRNA. 204 cellular component disassembly involved in apoptosis|intracellular signal transduction|mesoderm development cytosol ATP binding|metal ion binding|non-membrane spanning protein tyrosine kinase activity|protein binding|signal transducer activity breast(1)|endometrium(4)|kidney(2)|large_intestine(4)|lung(14)|ovary(2)|urinary_tract(3) 30 Hepatocellular(33;0.183) ACTATGGCTCCCAGCCACCAT 0.443000 27 28 0 0 0.000184323 0 0 XIRP2 129446 broad.mit.edu 37 2 168105186 168105186 + Missense_Mutation SNP A C C TCGA-BF-A1PZ-01A-11D-A19A-08 TCGA-BF-A1PZ-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6ef799ed-a9fa-4328-95d3-265699e16339 a8458b1d-3040-455b-ae7a-b1ac22b9f2b6 g.chr2:168105186A>C uc002udx.3 + 8 7373 c.7284A>C c.(7282-7284)aaA>aaC p.K2428N XIRP2_uc010fpn.3_Intron|XIRP2_uc010fpo.3_Intron|XIRP2_uc002udy.3_Missense_Mutation_p.K2253N|XIRP2_uc010fpq.3_Missense_Mutation_p.K2206N|XIRP2_uc010fpr.3_Intron NM_152381 NP_689594 A4UGR9 XIRP2_HUMAN Homo sapiens xin actin-binding repeat containing 2 (XIRP2), transcript variant 1, mRNA. 2253 actin cytoskeleton organization cell junction actin binding NS(3)|biliary_tract(2)|breast(5)|cervix(3)|endometrium(16)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(51)|lung(160)|ovary(7)|pancreas(3)|prostate(11)|skin(14)|stomach(5)|upper_aerodigestive_tract(8)|urinary_tract(7) 315 CCAAACCCAAACTTCCCAAGC 0.408000 56 6 0 0 0.000157383 0 0 C18orf54 162681 broad.mit.edu 37 18 51888373 51888373 + Missense_Mutation SNP C T T TCGA-BF-A1PZ-01A-11D-A19A-08 TCGA-BF-A1PZ-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6ef799ed-a9fa-4328-95d3-265699e16339 a8458b1d-3040-455b-ae7a-b1ac22b9f2b6 g.chr18:51888373C>T uc002lfo.4 + 1 690 c.644C>T c.(643-645)tCa>tTa p.S215L C18orf54_uc002lfn.4_Intron NM_173529 NP_775800 Q8IYD9 CR054_HUMAN Homo sapiens chromosome 18 open reading frame 54 (C18orf54), mRNA. 214 extracellular region breast(1)|central_nervous_system(1)|endometrium(3)|large_intestine(3)|lung(5)|ovary(1)|skin(1) 15 Colorectal(16;0.0206)|READ - Rectum adenocarcinoma(59;0.186) ATTTCTGAATCATCTTTGTCT 0.363000 5 12 0 0 0.00010058 0 0 FBXL5 26234 broad.mit.edu 37 4 15627231 15627231 + Missense_Mutation SNP A C C TCGA-BF-A1PZ-01A-11D-A19A-08 TCGA-BF-A1PZ-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6ef799ed-a9fa-4328-95d3-265699e16339 a8458b1d-3040-455b-ae7a-b1ac22b9f2b6 g.chr4:15627231A>C uc003goc.2 - 8 1619 c.1494T>G c.(1492-1494)caT>caG p.H498Q FBXL5_uc010idw.2_Missense_Mutation_p.H411Q|FBXL5_uc003gob.2_Missense_Mutation_p.H360Q|FBXL5_uc010idx.2_Missense_Mutation_p.H497Q|FBXL5_uc003god.2_Missense_Mutation_p.H481Q|FBXL5_uc010idy.2_Missense_Mutation_p.H498Q NM_012161 NP_036293 Q9UKA1 FBXL5_HUMAN Homo sapiens F-box and leucine-rich repeat protein 5 (FBXL5), transcript variant 1, mRNA. 498 SCF-dependent proteasomal ubiquitin-dependent protein catabolic process|iron ion homeostasis SCF ubiquitin ligase complex|perinuclear region of cytoplasm iron ion binding|protein binding|ubiquitin-protein ligase activity endometrium(2)|large_intestine(3)|lung(5)|ovary(1)|pancreas(1)|prostate(1) 13 CAACATTTCTATGTCTCCATT 0.388000 37 52 0 0 0.000147903 0 0 BSN 8927 broad.mit.edu 37 3 49699732 49699732 + Missense_Mutation SNP C T T TCGA-BF-A1PZ-01A-11D-A19A-08 TCGA-BF-A1PZ-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6ef799ed-a9fa-4328-95d3-265699e16339 a8458b1d-3040-455b-ae7a-b1ac22b9f2b6 g.chr3:49699732C>T uc003cxe.4 + 5 10568 c.10454C>T c.(10453-10455)tCc>tTc p.S3485F NM_003458 NP_003449 Q9UPA5 BSN_HUMAN Homo sapiens bassoon (presynaptic cytomatrix protein) (BSN), mRNA. 3485 synaptic transmission cell junction|cytoplasm|cytoskeleton|nucleus|synaptosome metal ion binding breast(8)|central_nervous_system(2)|cervix(2)|endometrium(16)|kidney(3)|large_intestine(17)|lung(37)|ovary(7)|pancreas(1)|prostate(4)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1) 106 BRCA - Breast invasive adenocarcinoma(193;6.66e-05)|KIRC - Kidney renal clear cell carcinoma(197;0.0032)|Kidney(197;0.00336) AAGCCCTCATCCCTAAGTATG 0.652000 8 11 0 0 3.86212e-05 0 0 NOC2L 26155 broad.mit.edu 37 1 892575 892575 + Silent SNP G A A TCGA-BF-A1PZ-01A-11D-A19A-08 TCGA-BF-A1PZ-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6ef799ed-a9fa-4328-95d3-265699e16339 a8458b1d-3040-455b-ae7a-b1ac22b9f2b6 g.chr1:892575G>A uc009vjq.3 - 2 317 c.258C>T c.(256-258)ttC>ttT p.F86F NOC2L_uc001aby.4_5'UTR|NOC2L_uc001abz.4_Silent_p.F86F NM_015658 NP_056473 Q9Y3T9 NOC2L_HUMAN Homo sapiens nucleolar complex associated 2 homolog (S. cerevisiae) (NOC2L), mRNA. 86 nucleolus protein binding endometrium(2)|kidney(1)|large_intestine(2)|lung(6)|ovary(2)|skin(2)|urinary_tract(1) 16 all_cancers(77;0.00164)|all_epithelial(69;0.000959)|all_lung(157;0.00963)|Lung NSC(156;0.0232)|Ovarian(185;0.0634) all_epithelial(116;8.75e-19)|all_lung(118;2.3e-08)|Lung NSC(185;2.38e-06)|Renal(390;0.00183)|Breast(487;0.00354)|Hepatocellular(190;0.00826)|Myeloproliferative disorder(586;0.0122)|Ovarian(437;0.0308)|Lung SC(97;0.128) UCEC - Uterine corpus endometrioid carcinoma (11;0.00459)|Epithelial(90;1.86e-38)|OV - Ovarian serous cystadenocarcinoma(86;6.08e-23)|Colorectal(212;0.000161)|COAD - Colon adenocarcinoma(227;0.000194)|BRCA - Breast invasive adenocarcinoma(365;0.000475)|Kidney(185;0.00231)|STAD - Stomach adenocarcinoma(132;0.00644)|KIRC - Kidney renal clear cell carcinoma(229;0.0344)|Lung(427;0.2) TCTCCTGCAGGAACTTGTAGA 0.587000 4 65 0 0 0.000147903 0 0 BAP1 8314 broad.mit.edu 37 3 52436850 52436850 + Missense_Mutation SNP A G G TCGA-BF-A1PZ-01A-11D-A19A-08 TCGA-BF-A1PZ-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6ef799ed-a9fa-4328-95d3-265699e16339 a8458b1d-3040-455b-ae7a-b1ac22b9f2b6 g.chr3:52436850A>G uc003ddx.3 - 14 2043 c.1928T>C c.(1927-1929)aTt>aCt p.I643T BAP1_uc003ddw.3_Non-coding_Transcript|BAP1_uc010hmg.3_Non-coding_Transcript|BAP1_uc010hmh.3_Non-coding_Transcript NM_004656 NP_004647 Q92560 BAP1_HUMAN Homo sapiens BRCA1 associated protein-1 (ubiquitin carboxy-terminal hydrolase) (BAP1), mRNA. 643 Interaction with BRCA1. monoubiquitinated histone H2A deubiquitination|negative regulation of cell proliferation|protein K48-linked deubiquitination|regulation of cell cycle|regulation of cell growth|ubiquitin-dependent protein catabolic process PR-DUB complex|cytoplasm|nucleolus chromatin binding|protein binding|ubiquitin thiolesterase activity|ubiquitin-specific protease activity NS(1)|breast(4)|endometrium(3)|eye(42)|kidney(60)|large_intestine(3)|lung(9)|ovary(4)|pleura(39)|prostate(4)|skin(9)|urinary_tract(2) 180 BRCA - Breast invasive adenocarcinoma(193;1.72e-05)|Kidney(197;0.0018)|KIRC - Kidney renal clear cell carcinoma(197;0.00203)|OV - Ovarian serous cystadenocarcinoma(275;0.0277) ATAGTTTGCAATCTCAGCCTC 0.567000 """N, Mis, F, S, O""" """uveal melanoma, breast, NSCLC, RCC""" """mesothelioma, uveal melanoma""" 47 35 0 0 0.000147903 0 0 C10orf11 83938 broad.mit.edu 37 10 77795790 77795790 + Silent SNP C T T TCGA-BF-A1PZ-01A-11D-A19A-08 TCGA-BF-A1PZ-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6ef799ed-a9fa-4328-95d3-265699e16339 a8458b1d-3040-455b-ae7a-b1ac22b9f2b6 g.chr10:77795790C>T uc001jxi.3 + 1 287 c.72C>T c.(70-72)ttC>ttT p.F24F NM_032024 NP_114413 Q9H2I8 CJ011_HUMAN Homo sapiens chromosome 10 open reading frame 11 (C10orf11), mRNA. 24 endometrium(1)|large_intestine(4)|lung(4)|stomach(1) 10 Prostate(51;0.0095)|all_epithelial(25;0.0221) TGAGCGCATTCAGGAGCCTGG 0.483000 OREG0020279 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 42 28 0 0 0.00058488 0 0 OR52J3 119679 broad.mit.edu 37 11 5068212 5068212 + Missense_Mutation SNP C T T TCGA-BF-A1PZ-01A-11D-A19A-08 TCGA-BF-A1PZ-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6ef799ed-a9fa-4328-95d3-265699e16339 a8458b1d-3040-455b-ae7a-b1ac22b9f2b6 g.chr11:5068212C>T uc010qyv.2 + 0 457 c.457C>T c.(457-459)Cgt>Tgt p.R153C NM_001001916 NP_001001916 Q8NH60 O52J3_HUMAN Homo sapiens olfactory receptor, family 52, subfamily J, member 3 (OR52J3), mRNA. 153 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity NS(1)|endometrium(1)|kidney(6)|large_intestine(6)|lung(19)|ovary(1)|skin(2) 36 Medulloblastoma(188;0.00131)|all_neural(188;0.0189)|Breast(177;0.0204) Epithelial(150;9.29e-10)|BRCA - Breast invasive adenocarcinoma(625;0.135)|LUSC - Lung squamous cell carcinoma(625;0.19) CATTGTAATTCGTCCCGTTTT 0.468000 2 14 0 0 0.000219431 0 0 WEE1 7465 broad.mit.edu 37 11 9597474 9597474 + Missense_Mutation SNP G T T TCGA-BF-A1PZ-01A-11D-A19A-08 TCGA-BF-A1PZ-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6ef799ed-a9fa-4328-95d3-265699e16339 a8458b1d-3040-455b-ae7a-b1ac22b9f2b6 g.chr11:9597474G>T uc001mhs.3 + 1 869 c.616G>T c.(616-618)Gtt>Ttt p.V206F WEE1_uc001mht.3_5'UTR|WEE1_uc001mhu.3_5'UTR NM_003390 NP_001137448 P30291 WEE1_HUMAN Homo sapiens WEE1 homolog (S. pombe) (WEE1), transcript variant 1, mRNA. 206 G1/S transition of mitotic cell cycle|G2/M transition of mitotic cell cycle|S phase of mitotic cell cycle|blood coagulation|cell cycle checkpoint|cell division|mitosis nucleoplasm ATP binding|magnesium ion binding|non-membrane spanning protein tyrosine kinase activity|protein binding|protein serine/threonine kinase activity breast(2)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(6)|ovary(1)|prostate(2)|skin(1)|urinary_tract(1) 23 all cancers(16;4.59e-09)|Epithelial(150;3.15e-08)|BRCA - Breast invasive adenocarcinoma(625;0.0484) TTCCAGCTCTGTTAAACTCCG 0.393000 8 37 1.15505e-17 2.012e-16 0.000437636 1 0 CAMKV 79012 broad.mit.edu 37 3 49898722 49898722 + Silent SNP C T T TCGA-BF-A1PZ-01A-11D-A19A-08 TCGA-BF-A1PZ-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6ef799ed-a9fa-4328-95d3-265699e16339 a8458b1d-3040-455b-ae7a-b1ac22b9f2b6 g.chr3:49898722C>T uc003cxt.1 - 5 646 c.453G>A c.(451-453)ctG>ctA p.L151L CAMKV_uc011bcy.1_Silent_p.L76L|CAMKV_uc003cxv.1_Silent_p.L151L|CAMKV_uc003cxw.1_5'UTR|CAMKV_uc003cxx.1_5'UTR|CAMKV_uc003cxu.2_Silent_p.L151L|CAMKV_uc011bcz.1_Silent_p.L114L|CAMKV_uc011bda.1_Silent_p.L108L|CAMKV_uc011bdb.1_Non-coding_Transcript NM_024046 NP_076951 Q8NCB2 CAMKV_HUMAN Homo sapiens CaM kinase-like vesicle-associated (CAMKV), mRNA. 151 Protein kinase. cytoplasmic vesicle membrane|plasma membrane ATP binding|protein serine/threonine kinase activity central_nervous_system(1)|large_intestine(2)|lung(2)|ovary(2) 7 BRCA - Breast invasive adenocarcinoma(193;4.62e-05)|KIRC - Kidney renal clear cell carcinoma(197;0.00551)|Kidney(197;0.00621) TGTAGTAAACCAGGTTCTCCA 0.547000 31 16 0 0 0.000132079 0 0 OR7G3 390883 broad.mit.edu 37 19 9237442 9237442 + Missense_Mutation SNP A G G TCGA-BF-A1PZ-01A-11D-A19A-08 TCGA-BF-A1PZ-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6ef799ed-a9fa-4328-95d3-265699e16339 a8458b1d-3040-455b-ae7a-b1ac22b9f2b6 g.chr19:9237442A>G uc010xkl.2 - 0 185 c.185T>C c.(184-186)cTc>cCc p.L62P NM_001001958 NP_001001958 Q8NG95 OR7G3_HUMAN Homo sapiens olfactory receptor, family 7, subfamily G, member 3 (OR7G3), mRNA. 62 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity NS(2)|endometrium(1)|large_intestine(3)|liver(1)|lung(5)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1) 15 GATAGAGAGGAGGAAGTACAT 0.537000 38 34 0 0 0.000132358 0 0 RC3H1 149041 broad.mit.edu 37 1 173930261 173930261 + Missense_Mutation SNP G A A TCGA-BF-A1PZ-01A-11D-A19A-08 TCGA-BF-A1PZ-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6ef799ed-a9fa-4328-95d3-265699e16339 a8458b1d-3040-455b-ae7a-b1ac22b9f2b6 g.chr1:173930261G>A uc010pmt.2 - 11 2411 c.2324C>T c.(2323-2325)cCt>cTt p.P775L RC3H1_uc001gju.4_Missense_Mutation_p.P775L|RC3H1_uc010pms.2_Missense_Mutation_p.P775L|RC3H1_uc001gjv.3_Missense_Mutation_p.P775L NM_172071 NP_742068 Q5TC82 RC3H1_HUMAN Homo sapiens ring finger and CCCH-type domains 1 (RC3H1), mRNA. 775 Pro-rich. cytoplasmic mRNA processing body assembly|negative regulation of B cell proliferation|negative regulation of T-helper cell differentiation|negative regulation of activated T cell proliferation|negative regulation of germinal center formation|nuclear-transcribed mRNA catabolic process|regulation of T cell receptor signaling pathway|regulation of mRNA stability cytoplasmic mRNA processing body|stress granule mRNA 3'-UTR binding|ubiquitin-protein ligase activity|zinc ion binding p.P775S(1) NS(1)|breast(1)|central_nervous_system(1)|endometrium(5)|kidney(2)|large_intestine(7)|lung(20)|ovary(2)|pancreas(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(4)|urinary_tract(1) 50 AGGTGCAAAAGGAGGTGGAGA 0.463000 12 100 0 0 0.000147903 0 0 SERPINA7 6906 broad.mit.edu 37 X 105277518 105277518 + Silent SNP C T T TCGA-BF-A1PZ-01A-11D-A19A-08 TCGA-BF-A1PZ-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6ef799ed-a9fa-4328-95d3-265699e16339 a8458b1d-3040-455b-ae7a-b1ac22b9f2b6 g.chrX:105277518C>T uc010npd.3 - 3 1456 c.1221G>A c.(1219-1221)ggG>ggA p.G407G SERPINA7_uc004eme.2_Silent_p.G407G NM_000354 NP_000345 P05543 THBG_HUMAN Homo sapiens serpin peptidase inhibitor, clade A (alpha-1 antiproteinase, antitrypsin), member 7 (SERPINA7), mRNA. 407 regulation of proteolysis extracellular space serine-type endopeptidase inhibitor activity endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(14)|ovary(1)|skin(3) 24 Levothyroxine(DB00451)|Liothyronine(DB00279) TCACAACTTTCCCTAGAAAGA 0.388000 7 54 0 0 0.000147903 0 0 LTBP2 4053 broad.mit.edu 37 14 75016658 75016658 + Missense_Mutation SNP G A A TCGA-BF-A1PZ-01A-11D-A19A-08 TCGA-BF-A1PZ-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6ef799ed-a9fa-4328-95d3-265699e16339 a8458b1d-3040-455b-ae7a-b1ac22b9f2b6 g.chr14:75016658G>A uc001xqa.3 - 7 2084 c.1697C>T c.(1696-1698)cCt>cTt p.P566L NM_000428 NP_000419 Q14767 LTBP2_HUMAN Homo sapiens latent transforming growth factor beta binding protein 2 (LTBP2), mRNA. 566 TB 1. protein secretion|protein targeting|transforming growth factor beta receptor signaling pathway extracellular space|proteinaceous extracellular matrix calcium ion binding|growth factor binding breast(3)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(9)|liver(1)|lung(29)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2) 58 BRCA - Breast invasive adenocarcinoma(234;0.00219)|READ - Rectum adenocarcinoma(1;0.0649) CTCCAGCAGAGGGTTGGCACA 0.627000 15 8 0 0 0.000442599 0 0 TRAV12-1 28674 broad.mit.edu 37 14 22309722 22309722 + Missense_Mutation SNP C T T TCGA-BF-A1PZ-01A-11D-A19A-08 TCGA-BF-A1PZ-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6ef799ed-a9fa-4328-95d3-265699e16339 a8458b1d-3040-455b-ae7a-b1ac22b9f2b6 g.chr14:22309722C>T uc001wbx.2 + 1 207 c.106C>T c.(106-108)Cca>Tca p.P36S TRA_uc021rpa.1_Intron|TCRA_uc001wbw.2_Intron Homo sapiens mRNA for T cell receptor alpha variable 12, partial cds, clone: SEB 232. CTTCAATGTTCCAGAGGGAGC 0.488000 9 7 0 0 8.12818e-05 0 0 OR6B1 135946 broad.mit.edu 37 7 143701701 143701701 + Silent SNP G T T TCGA-BF-A1PZ-01A-11D-A19A-08 TCGA-BF-A1PZ-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6ef799ed-a9fa-4328-95d3-265699e16339 a8458b1d-3040-455b-ae7a-b1ac22b9f2b6 g.chr7:143701701G>T uc003wdt.1 + 0 612 c.612G>T c.(610-612)ctG>ctT p.L204L NM_001005281 NP_001005281 O95007 OR6B1_HUMAN Homo sapiens olfactory receptor, family 6, subfamily B, member 1 (OR6B1), mRNA. 204 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity breast(1)|endometrium(3)|large_intestine(3)|lung(15)|ovary(2)|skin(2)|urinary_tract(1) 27 Melanoma(164;0.0783) TCCTGGCACTGGTCATCTTCC 0.458000 104 6 0.000157383 0.00263878 0.000157383 1 0 SDPR 8436 broad.mit.edu 37 2 192700881 192700881 + Missense_Mutation SNP C T T TCGA-BF-A1PZ-01A-11D-A19A-08 TCGA-BF-A1PZ-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6ef799ed-a9fa-4328-95d3-265699e16339 a8458b1d-3040-455b-ae7a-b1ac22b9f2b6 g.chr2:192700881C>T uc002utb.3 - 1 1401 c.1046G>A c.(1045-1047)gGg>gAg p.G349E NM_004657 NP_004648 O95810 SDPR_HUMAN Homo sapiens serum deprivation response (SDPR), mRNA. 349 caveola|cytosol phosphatidylserine binding|protein binding NS(1)|central_nervous_system(1)|cervix(1)|large_intestine(6)|lung(9)|ovary(1)|pancreas(1)|urinary_tract(3) 23 OV - Ovarian serous cystadenocarcinoma(117;0.0647) Phosphatidylserine(DB00144) TGCAATTTCCCCTTCCACCAG 0.562000 38 46 0 0 0.000147903 0 0 GAB4 128954 broad.mit.edu 37 22 17472893 17472893 + Silent SNP C T T TCGA-BF-A1PZ-01A-11D-A19A-08 TCGA-BF-A1PZ-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6ef799ed-a9fa-4328-95d3-265699e16339 a8458b1d-3040-455b-ae7a-b1ac22b9f2b6 g.chr22:17472893C>T uc002zlw.3 - 1 456 c.348G>A c.(346-348)caG>caA p.Q116Q GAB4_uc010gqs.1_Silent_p.Q116Q NM_001037814 NP_001032903 Q2WGN9 GAB4_HUMAN Homo sapiens GRB2-associated binding protein family, member 4 (GAB4), mRNA. 116 PH. breast(2)|endometrium(2)|kidney(2)|large_intestine(6)|lung(24)|ovary(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2) 44 all_epithelial(15;0.112)|Lung NSC(13;0.248) TATAGCCCTTCTGAATCTCCT 0.498000 92 66 0 0 0.000147903 0 0 ZNF700 90592 broad.mit.edu 37 19 12087920 12087920 + Missense_Mutation SNP C T T TCGA-BF-A1PZ-01A-11D-A19A-08 TCGA-BF-A1PZ-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6ef799ed-a9fa-4328-95d3-265699e16339 a8458b1d-3040-455b-ae7a-b1ac22b9f2b6 g.chr19:12087920C>T uc010xmf.2 + 1 257 c.131C>T c.(130-132)tCg>tTg p.S44L ZNF700_uc002msv.3_Missense_Mutation_p.S27L|ZNF700_uc002msw.3_Missense_Mutation_p.S24L|ZNF700_uc010xmg.2_Intron NM_001012753 NP_001012771 Q9H0M5 ZN700_HUMAN Homo sapiens zinc finger protein 763 (ZNF763), mRNA. 44 KRAB. regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding p.S26L(1) ZNF700/MAST1_ENST00000251472(2) breast(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(9)|lung(13)|pancreas(1)|prostate(1)|urinary_tract(1) 33 CTGGATATTTCGCAGAGGAAA 0.493000 56 56 0 0 0.000147903 0 0 ATP4A 495 broad.mit.edu 37 19 36050767 36050767 + Missense_Mutation SNP C T T TCGA-BF-A1PZ-01A-11D-A19A-08 TCGA-BF-A1PZ-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6ef799ed-a9fa-4328-95d3-265699e16339 a8458b1d-3040-455b-ae7a-b1ac22b9f2b6 g.chr19:36050767C>T uc002oal.1 - 6 1025 c.996G>A c.(994-996)atG>atA p.M332I ATP4A_uc010eee.1_5'Flank NM_000704 NP_000695 P20648 ATP4A_HUMAN Homo sapiens ATPase, H+/K+ exchanging, alpha polypeptide (ATP4A), mRNA. 332 ATP biosynthetic process|ATP hydrolysis coupled proton transport integral to plasma membrane ATP binding|hydrogen:potassium-exchanging ATPase activity|magnesium ion binding p.A331A(1) breast(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(12)|lung(26)|ovary(2)|prostate(2)|upper_aerodigestive_tract(1) 53 all_lung(56;1.05e-07)|Lung NSC(56;1.63e-07)|Esophageal squamous(110;0.162) LUSC - Lung squamous cell carcinoma(66;0.0724) Esomeprazole(DB00736)|Lansoprazole(DB00448)|Omeprazole(DB00338)|Pantoprazole(DB00213)|Rabeprazole(DB01129)|Trifluoperazine(DB00831) TGAAGAAGACCATGGCCCGCA 0.597000 14 14 0 0 0.000219431 0 0 PRCC 5546 broad.mit.edu 37 1 156756574 156756574 + Missense_Mutation SNP C T T TCGA-BF-A1PZ-01A-11D-A19A-08 TCGA-BF-A1PZ-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6ef799ed-a9fa-4328-95d3-265699e16339 a8458b1d-3040-455b-ae7a-b1ac22b9f2b6 g.chr1:156756574C>T uc001fqa.3 + 2 981 c.691C>T c.(691-693)Cct>Tct p.P231S NM_005973 NP_005964 Q92733 PRCC_HUMAN Homo sapiens papillary renal cell carcinoma (translocation-associated) (PRCC), mRNA. 231 cell cycle|mitotic cell cycle checkpoint nucleus protein binding PRCC/TFE3(25) breast(1)|central_nervous_system(3)|endometrium(1)|kidney(2)|large_intestine(1)|liver(1)|lung(5)|upper_aerodigestive_tract(1) 15 all_hematologic(923;0.0839)|Hepatocellular(266;0.158) CTCTCTTGCCCCTGTTGTGGG 0.587000 T TFE3 papillary renal 49 32 0 0 0.000491102 0 0 SFPQ 6421 broad.mit.edu 37 1 35652667 35652667 + Missense_Mutation SNP C G G TCGA-BF-A1PZ-01A-11D-A19A-08 TCGA-BF-A1PZ-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6ef799ed-a9fa-4328-95d3-265699e16339 a8458b1d-3040-455b-ae7a-b1ac22b9f2b6 g.chr1:35652667C>G uc001bys.3 - 8 2014 c.1921G>C c.(1921-1923)Ggt>Cgt p.G641R NM_005066 NP_005057 P23246 SFPQ_HUMAN Homo sapiens splicing factor proline/glutamine-rich (SFPQ), mRNA. 641 Poly-Gly. DNA recombination|DNA repair|alternative nuclear mRNA splicing, via spliceosome|regulation of transcription, DNA-dependent|transcription, DNA-dependent nuclear matrix|paraspeckles DNA binding|RNA binding|nucleotide binding|protein binding SFPQ/TFE3(6) NS(1)|breast(2)|endometrium(2)|kidney(1)|large_intestine(10)|lung(4)|ovary(1)|prostate(1)|skin(2)|urinary_tract(1) 25 Myeloproliferative disorder(586;0.0393)|all_neural(195;0.196) GCTTCATAACCTATGCCACCA 0.463000 T TFE3 papillary renal cell 65 5 0 0 0.000602214 0 0 EXOSC1 51013 broad.mit.edu 37 10 99197027 99197027 + Silent SNP G A A TCGA-BF-A1PZ-01A-11D-A19A-08 TCGA-BF-A1PZ-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6ef799ed-a9fa-4328-95d3-265699e16339 a8458b1d-3040-455b-ae7a-b1ac22b9f2b6 g.chr10:99197027G>A uc001kni.3 - 6 428 c.402C>T c.(400-402)tcC>tcT p.S134S EXOSC1_uc009xvp.1_Non-coding_Transcript NM_016046 NP_057130 Q9Y3B2 EXOS1_HUMAN Homo sapiens exosome component 1 (EXOSC1), mRNA. 134 S1 motif. exonucleolytic nuclear-transcribed mRNA catabolic process involved in deadenylation-dependent decay|rRNA processing cytosol|exosome (RNase complex)|nucleolus RNA binding|protein binding breast(1)|endometrium(1)|lung(5) 7 Renal(717;0.000147)|Colorectal(252;0.00205)|Ovarian(717;0.00965) all cancers(201;8.29e-42)|Epithelial(162;5.7e-33)|BRCA - Breast invasive adenocarcinoma(275;0.000315)|Kidney(138;0.000832)|KIRC - Kidney renal clear cell carcinoma(50;0.00269)|STAD - Stomach adenocarcinoma(243;0.202) CATCACCTAAGGAGATCTAGT 0.488000 39 34 0 0 0.000491102 0 0 SCAMP5 192683 broad.mit.edu 37 15 75310824 75310824 + Missense_Mutation SNP C T T TCGA-BF-A1PZ-01A-11D-A19A-08 TCGA-BF-A1PZ-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6ef799ed-a9fa-4328-95d3-265699e16339 a8458b1d-3040-455b-ae7a-b1ac22b9f2b6 g.chr15:75310824C>T uc002azn.2 + 5 672 c.485C>T c.(484-486)cCc>cTc p.P162L SCAMP5_uc002azl.2_Missense_Mutation_p.P154L|SCAMP5_uc002azm.2_Missense_Mutation_p.P154L|SCAMP5_uc002azk.2_Missense_Mutation_p.P154L|SCAMP5_uc010uly.2_Missense_Mutation_p.P83L NM_138967 NP_620417 Q8TAC9 SCAM5_HUMAN Homo sapiens secretory carrier membrane protein 5 (SCAMP5), transcript variant 3, mRNA. 154 exocytosis|negative regulation of endocytosis|positive regulation of calcium ion-dependent exocytosis|positive regulation of cytokine secretion|protein transport|response to endoplasmic reticulum stress cell junction|integral to membrane|recycling endosome membrane|synaptic vesicle membrane|trans-Golgi network membrane protein binding large_intestine(1)|lung(1)|ovary(1)|urinary_tract(2) 5 ATGCTAATTCCCACTGTCATG 0.582000 102 59 0 0 0.000147903 0 0 PAGE2B 389860 broad.mit.edu 37 X 55116953 55116953 + Missense_Mutation SNP G A A TCGA-BF-A1PZ-01A-11D-A19A-08 TCGA-BF-A1PZ-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6ef799ed-a9fa-4328-95d3-265699e16339 a8458b1d-3040-455b-ae7a-b1ac22b9f2b6 g.chrX:55116953G>A uc004duf.1 + 2 151 c.103G>A c.(103-105)Gaa>Aaa p.E35K PAGE2B_uc022bxk.1_Intron NM_207339 NP_997222 Q5JRK9 GGEE3_HUMAN Homo sapiens P antigen family, member 2 (prostate associated) (PAGE2), mRNA. 35 lung(3) 3 GCCCACTGAGGAAAAACGTCA 0.418000 14 18 0 0 0.000229342 0 0 RGL4 266747 broad.mit.edu 37 22 24034331 24034331 + Silent SNP G A A rs148535347 byFrequency TCGA-BF-A1PZ-01A-11D-A19A-08 TCGA-BF-A1PZ-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6ef799ed-a9fa-4328-95d3-265699e16339 a8458b1d-3040-455b-ae7a-b1ac22b9f2b6 g.chr22:24034331G>A uc002zxo.3 + 0 1371 c.114G>A c.(112-114)acG>acA p.T38T GUSBP11_uc002zxh.4_Non-coding_Transcript|GUSBP11_uc002zxi.4_Non-coding_Transcript|GUSBP11_uc002zxk.4_Intron|GUSBP11_uc010gua.3_Intron|GUSBP11_uc002zxl.4_Intron|GUSBP11_uc011aiz.2_Intron|GUSBP11_uc002zxm.3_Intron|RGL4_uc002zxn.3_Silent_p.T38T|RGL4_uc002zxp.1_5'UTR|RGL4_uc002zxq.3_5'UTR Q8IZJ4 RGDSR_HUMAN Homo sapiens ral guanine nucleotide dissociation stimulator-like 4 (RGL4), mRNA. 38 small GTPase mediated signal transduction cytoplasmic membrane-bounded vesicle guanyl-nucleotide exchange factor activity endometrium(1)|kidney(1)|large_intestine(3)|lung(5)|ovary(1)|prostate(1)|skin(3) 15 CAGGGCGCACGAGGGTCTGTA 0.602000 25 20 0 0 0.000175454 0 0 FAM162A 26355 broad.mit.edu 37 3 122121620 122121620 + Missense_Mutation SNP G C C TCGA-BF-A1PZ-01A-11D-A19A-08 TCGA-BF-A1PZ-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6ef799ed-a9fa-4328-95d3-265699e16339 a8458b1d-3040-455b-ae7a-b1ac22b9f2b6 g.chr3:122121620G>C uc003eez.3 + 1 138 c.48G>C c.(46-48)agG>agC p.R16S FAM162A_uc011bjq.1_Missense_Mutation_p.R16S NM_014367 NP_055182 Q96A26 F162A_HUMAN Homo sapiens family with sequence similarity 162, member A (FAM162A), mRNA. 16 integral to membrane breast(1)|kidney(1)|large_intestine(1)|lung(2)|ovary(1) 6 GCTGTTTTAGGTTATGTGAAA 0.353000 30 15 0 0 7.07596e-05 0 0 OR5AR1 219493 broad.mit.edu 37 11 56431231 56431231 + Missense_Mutation SNP G A A TCGA-BF-A1PZ-01A-11D-A19A-08 TCGA-BF-A1PZ-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6ef799ed-a9fa-4328-95d3-265699e16339 a8458b1d-3040-455b-ae7a-b1ac22b9f2b6 g.chr11:56431231G>A uc010rjm.2 + 0 70 c.70G>A c.(70-72)Gag>Aag p.E24K OR8U8_uc001nit.2_Intron NM_001004730 NP_001004730 Q8NGP9 O5AR1_HUMAN Homo sapiens olfactory receptor, family 5, subfamily AR, member 1 (OR5AR1), mRNA. 24 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity NS(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(1)|lung(12)|prostate(1)|skin(3)|stomach(1) 26 CCCTCAGATGGAGATCATCTT 0.423000 10 51 0 0 0.000147903 0 0 COL5A3 50509 broad.mit.edu 37 19 10103516 10103517 + Missense_Mutation DNP GG AA AA TCGA-BF-A1PZ-01A-11D-A19A-08 TCGA-BF-A1PZ-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6ef799ed-a9fa-4328-95d3-265699e16339 a8458b1d-3040-455b-ae7a-b1ac22b9f2b6 g.chr19:10103516_10103517GG>AA uc002mmq.1 - 20 1920_1921 c.1834_1835CC>TT c.(1834-1836)ccc>TTc p.P612F NM_015719 NP_056534 P25940 CO5A3_HUMAN Homo sapiens collagen, type V, alpha 3 (COL5A3), mRNA. 612 Triple-helical region. collagen fibril organization|skin development collagen type V collagen binding|extracellular matrix structural constituent NS(2)|breast(3)|central_nervous_system(2)|endometrium(11)|kidney(23)|large_intestine(12)|liver(2)|lung(35)|ovary(8)|prostate(5)|skin(10)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 116 Epithelial(33;7.11e-05) GCGACCCGTGGGGCCAGGAGAG 0.589000 12 12 0 0 6.4e-05 0 0 SERPINB11 89778 broad.mit.edu 37 18 61390362 61390362 + Missense_Mutation SNP C T T TCGA-BF-A1PZ-01A-11D-A19A-08 TCGA-BF-A1PZ-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6ef799ed-a9fa-4328-95d3-265699e16339 a8458b1d-3040-455b-ae7a-b1ac22b9f2b6 g.chr18:61390362C>T uc002ljk.4 + 8 1076 c.905C>T c.(904-906)tCt>tTt p.S302F SERPINB11_uc010xes.2_Missense_Mutation_p.S128F|SERPINB11_uc010dqd.3_Intron|SERPINB11_uc002ljj.4_Missense_Mutation_p.S189F|SERPINB11_uc010dqe.3_Missense_Mutation_p.S102F|SERPINB11_uc010dqf.3_Missense_Mutation_p.S101F NM_080475 NP_536723 Q96P15 SPB11_HUMAN Homo sapiens serpin peptidase inhibitor, clade B (ovalbumin), member 11 (gene/pseudogene) (SERPINB11), mRNA. 303 regulation of proteolysis cytoplasm serine-type endopeptidase inhibitor activity breast(1)|cervix(1)|kidney(1)|lung(3) 6 Esophageal squamous(42;0.129) CTGTTAAAATCTCTAGGGGTG 0.418000 5 3 0 0 0.000602214 0 0 FBXO40 51725 broad.mit.edu 37 3 121340930 121340930 + Nonsense_Mutation SNP G A A TCGA-BF-A1PZ-01A-11D-A19A-08 TCGA-BF-A1PZ-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6ef799ed-a9fa-4328-95d3-265699e16339 a8458b1d-3040-455b-ae7a-b1ac22b9f2b6 g.chr3:121340930G>A uc003eeg.2 + 2 864 c.654G>A c.(652-654)tgG>tgA p.W218* NM_016298 NP_057382 Q9UH90 FBX40_HUMAN Homo sapiens F-box protein 40 (FBXO40), mRNA. 218 muscle cell differentiation centrosome|nucleus ubiquitin-protein ligase activity|zinc ion binding NS(1)|breast(2)|central_nervous_system(1)|kidney(1)|large_intestine(11)|lung(19)|ovary(2)|prostate(2)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(2) 46 GBM - Glioblastoma multiforme(114;0.189) TTGGCCAGTGGGAAAATATTT 0.463000 42 13 0 0 0.000422831 0 0 ZNF683 257101 broad.mit.edu 37 1 26688454 26688454 + Silent SNP G A A rs146588417 byFrequency TCGA-BF-A1PZ-01A-11D-A19A-08 TCGA-BF-A1PZ-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6ef799ed-a9fa-4328-95d3-265699e16339 a8458b1d-3040-455b-ae7a-b1ac22b9f2b6 g.chr1:26688454G>A uc001bmg.1 - 6 1381 c.1263C>T c.(1261-1263)tcC>tcT p.S421S ZNF683_uc001bmh.1_Silent_p.S401S|ZNF683_uc009vsj.1_Silent_p.S401S NM_173574 NP_775845 Q8IZ20 ZN683_HUMAN Homo sapiens zinc finger protein 683 (ZNF683), transcript variant 2, mRNA. 421 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding NS(1)|breast(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(8)|prostate(1)|skin(1) 15 all_cancers(24;2.39e-25)|Colorectal(325;3.46e-05)|all_lung(284;5.94e-05)|Lung NSC(340;7.26e-05)|Renal(390;0.0007)|Ovarian(437;0.00473)|Breast(348;0.00637)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0381) UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|OV - Ovarian serous cystadenocarcinoma(117;1.76e-26)|Colorectal(126;1.38e-08)|COAD - Colon adenocarcinoma(152;9.31e-07)|KIRC - Kidney renal clear cell carcinoma(1967;0.000751)|BRCA - Breast invasive adenocarcinoma(304;0.00099)|STAD - Stomach adenocarcinoma(196;0.00151)|GBM - Glioblastoma multiforme(114;0.00793)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.159)|LUSC - Lung squamous cell carcinoma(448;0.233) GCCGGGCCCCGGAGTGCAGGC 0.647000 5 27 0 0 9.22233e-05 0 0 DISP2 85455 broad.mit.edu 37 15 40660891 40660892 + Missense_Mutation DNP GG AA AA TCGA-BF-A1PZ-01A-11D-A19A-08 TCGA-BF-A1PZ-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6ef799ed-a9fa-4328-95d3-265699e16339 a8458b1d-3040-455b-ae7a-b1ac22b9f2b6 g.chr15:40660891_40660892GG>AA uc001zlk.1 + 7 2667_2668 c.2578_2579GG>AA c.(2578-2580)ggc>AAc p.G860N NM_033510 NP_277045 A7MBM2 DISP2_HUMAN Homo sapiens dispatched homolog 2 (Drosophila) (DISP2), mRNA. 860 smoothened signaling pathway integral to membrane breast(1)|endometrium(4)|kidney(2)|large_intestine(7)|lung(12)|ovary(4) 30 all_cancers(109;9.35e-19)|all_epithelial(112;1.18e-15)|Lung NSC(122;2.45e-11)|all_lung(180;6.47e-10)|Melanoma(134;0.0574)|Ovarian(310;0.0822)|Colorectal(260;0.117) GBM - Glioblastoma multiforme(113;3.39e-06)|Colorectal(105;0.0114)|READ - Rectum adenocarcinoma(2;0.0649)|BRCA - Breast invasive adenocarcinoma(123;0.0798)|Lung(196;0.15)|LUAD - Lung adenocarcinoma(183;0.247) CCTCTGCTGCGGCCACTCGGAC 0.673000 11 10 0 0 6.4e-05 0 0 FFAR2 2867 broad.mit.edu 37 19 35941380 35941380 + Missense_Mutation SNP G T T rs150050074 TCGA-BF-A1PZ-01A-11D-A19A-08 TCGA-BF-A1PZ-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6ef799ed-a9fa-4328-95d3-265699e16339 a8458b1d-3040-455b-ae7a-b1ac22b9f2b6 g.chr19:35941380G>T uc002nzg.2 + 1 844 c.764G>T c.(763-765)cGg>cTg p.R255L FFAR2_uc010eea.3_Missense_Mutation_p.R255L NM_005306 NP_005297 O15552 FFAR2_HUMAN Homo sapiens free fatty acid receptor 2 (FFAR2), mRNA. 255 integral to plasma membrane G-protein coupled receptor activity|lipid binding NS(1)|breast(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(7)|lung(6)|skin(1)|urinary_tract(1) 22 all_lung(56;1.89e-08)|Lung NSC(56;2.9e-08)|Esophageal squamous(110;0.162) LUSC - Lung squamous cell carcinoma(66;0.0724) CCCTGGTGGCGGTCAATAGCC 0.572000 41 6 3.59834e-05 0.000613933 3.59834e-05 1 0 NBAS 51594 broad.mit.edu 37 2 15567905 15567905 + Missense_Mutation SNP A G G TCGA-BF-A1PZ-01A-11D-A19A-08 TCGA-BF-A1PZ-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6ef799ed-a9fa-4328-95d3-265699e16339 a8458b1d-3040-455b-ae7a-b1ac22b9f2b6 g.chr2:15567905A>G uc002rcc.1 - 21 2379 c.2353T>C c.(2353-2355)Tcc>Ccc p.S785P NBAS_uc002rcd.1_Non-coding_Transcript NM_015909 NP_056993 A2RRP1 NBAS_HUMAN Homo sapiens neuroblastoma amplified sequence (NBAS), mRNA. 785 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 ATCATCAGGGAGTCACCGTTA 0.403000 16 4 0 0 0.000602214 0 0 NLRP9 338321 broad.mit.edu 37 19 56249681 56249681 + Silent SNP C T T TCGA-BF-A1PZ-01A-11D-A19A-08 TCGA-BF-A1PZ-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6ef799ed-a9fa-4328-95d3-265699e16339 a8458b1d-3040-455b-ae7a-b1ac22b9f2b6 g.chr19:56249681C>T uc002qly.3 - 0 88 c.60G>A c.(58-60)aaG>aaA p.K20K NM_176820 NP_789790 Q7RTR0 NALP9_HUMAN Homo sapiens NLR family, pyrin domain containing 9 (NLRP9), mRNA. 20 DAPIN. cytoplasm ATP binding NS(2)|breast(5)|cervix(1)|endometrium(7)|kidney(8)|large_intestine(15)|lung(21)|ovary(2)|prostate(3)|skin(7)|urinary_tract(3) 74 Colorectal(82;0.000133)|Ovarian(87;0.133) GBM - Glioblastoma multiforme(193;0.123) AAAACTCTTCCTTTCTGAGCT 0.453000 87 64 0 0 0.000147903 0 0 GABRQ 55879 broad.mit.edu 37 X 151818324 151818324 + Missense_Mutation SNP G A A TCGA-BF-A1PZ-01A-11D-A19A-08 TCGA-BF-A1PZ-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6ef799ed-a9fa-4328-95d3-265699e16339 a8458b1d-3040-455b-ae7a-b1ac22b9f2b6 g.chrX:151818324G>A uc004ffp.1 + 5 750 c.730G>A c.(730-732)Gag>Aag p.E244K NM_018558 NP_061028 Q9UN88 GBRT_HUMAN Homo sapiens gamma-aminobutyric acid (GABA) receptor, theta (GABRQ), mRNA. 244 cell junction|chloride channel complex|integral to plasma membrane|postsynaptic membrane GABA-A receptor activity|chloride channel activity|extracellular ligand-gated ion channel activity|neurotransmitter transporter activity breast(1)|central_nervous_system(1)|endometrium(1)|kidney(4)|large_intestine(9)|lung(25)|ovary(3)|pancreas(2)|prostate(2)|skin(3)|upper_aerodigestive_tract(1) 52 Acute lymphoblastic leukemia(192;6.56e-05) TACTAGCAAGGAGGTGTATTT 0.498000 45 32 0 0 0.000228196 0 0 XYLT1 64131 broad.mit.edu 37 16 17202607 17202607 + Missense_Mutation SNP C T T TCGA-BF-A1PZ-01A-11D-A19A-08 TCGA-BF-A1PZ-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6ef799ed-a9fa-4328-95d3-265699e16339 a8458b1d-3040-455b-ae7a-b1ac22b9f2b6 g.chr16:17202607C>T uc002dfa.3 - 11 2910 c.2825G>A c.(2824-2826)aGc>aAc p.S942N NM_022166 NP_071449 Q86Y38 XYLT1_HUMAN Homo sapiens xylosyltransferase I (XYLT1), mRNA. 942 glycosaminoglycan biosynthetic process Golgi membrane|endoplasmic reticulum membrane|extracellular region|integral to membrane acetylglucosaminyltransferase activity|protein xylosyltransferase activity breast(1)|central_nervous_system(1)|cervix(1)|endometrium(9)|kidney(2)|large_intestine(7)|lung(35)|ovary(4)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1) 67 GGGGTCAGGGCTGAAGGAGCT 0.652000 11 5 0 0 0.000602214 0 0 SNORD114-21 767599 broad.mit.edu 37 14 101448313 101448313 + Splice_Site SNP G A A TCGA-BF-A1PZ-01A-11D-A19A-08 TCGA-BF-A1PZ-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6ef799ed-a9fa-4328-95d3-265699e16339 a8458b1d-3040-455b-ae7a-b1ac22b9f2b6 g.chr14:101448313G>A uc001yjl.3 + 1 c.1_splice c.e1-1 SNORD114-22_uc001yjm.3_5'Flank Homo sapiens small nucleolar RNA, C/D box 114-21 (SNORD114-21), small nucleolar RNA. GGCCATTCCTGGATCAATGAT 0.398000 20 16 0 0 7.07596e-05 0 0 IGFBP1 3484 broad.mit.edu 37 7 45930178 45930178 + Silent SNP G T T rs142789241 TCGA-BF-A1PZ-01A-11D-A19A-08 TCGA-BF-A1PZ-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6ef799ed-a9fa-4328-95d3-265699e16339 a8458b1d-3040-455b-ae7a-b1ac22b9f2b6 g.chr7:45930178G>T uc003tnp.3 + 1 674 c.381G>T c.(379-381)acG>acT p.T127T NM_000596 NP_000587 P08833 IBP1_HUMAN Homo sapiens insulin-like growth factor binding protein 1 (IGFBP1), mRNA. 127 extracellular space insulin-like growth factor binding large_intestine(2)|lung(4) 6 CAGAGAGCACGGAGATAACTG 0.552000 63 6 0.000157383 0.00263878 0.000157383 1 0 ADARB2 105 broad.mit.edu 37 10 1279705 1279705 + Missense_Mutation SNP G A A TCGA-BF-A1PZ-01A-11D-A19A-08 TCGA-BF-A1PZ-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6ef799ed-a9fa-4328-95d3-265699e16339 a8458b1d-3040-455b-ae7a-b1ac22b9f2b6 g.chr10:1279705G>A uc009xhq.3 - 5 1770 c.1444C>T c.(1444-1446)Cat>Tat p.H482Y NM_018702 NP_061172 Q9NS39 RED2_HUMAN Homo sapiens adenosine deaminase, RNA-specific, B2 (ADARB2), mRNA. 482 A to I editase. mRNA processing mitochondrion|nucleus adenosine deaminase activity|double-stranded RNA binding|metal ion binding|single-stranded RNA binding breast(2)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(7)|lung(17)|prostate(2)|skin(1)|urinary_tract(1) 41 all_epithelial(10;0.059)|Colorectal(49;0.0815) all cancers(11;0.0224)|GBM - Glioblastoma multiforme(2;0.0414)|Epithelial(11;0.165) ACGTAGAGATGGAAGAGGATG 0.547000 39 33 0 0 0.000339439 0 0 ZBBX 79740 broad.mit.edu 37 3 167000284 167000284 + Splice_Site SNP C A A TCGA-BF-A1PZ-01A-11D-A19A-08 TCGA-BF-A1PZ-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6ef799ed-a9fa-4328-95d3-265699e16339 a8458b1d-3040-455b-ae7a-b1ac22b9f2b6 g.chr3:167000284C>A uc011bpc.2 - 20 2334 c.1997_splice c.e20-1 p.G666_splice ZBBX_uc003feq.3_Splice_Site_p.G598_splice|ZBBX_uc003fep.3_Splice_Site_p.G627_splice NM_001199201 NP_001186130 A8MT70 ZBBX_HUMAN Homo sapiens zinc finger, B-box domain containing (ZBBX), transcript variant 1, mRNA. 627 Ser-rich. intracellular zinc ion binding NS(1)|breast(1)|endometrium(5)|kidney(5)|large_intestine(9)|liver(1)|lung(38)|ovary(2)|prostate(1)|skin(4)|stomach(2)|upper_aerodigestive_tract(1) 70 GATTTCTGACCTAAAATTAAA 0.338000 154 9 0.000442599 0.00721301 0.000442599 1 0 OR2A5 393046 broad.mit.edu 37 7 143747652 143747652 + Missense_Mutation SNP G A A TCGA-BF-A1PZ-01A-11D-A19A-08 TCGA-BF-A1PZ-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6ef799ed-a9fa-4328-95d3-265699e16339 a8458b1d-3040-455b-ae7a-b1ac22b9f2b6 g.chr7:143747652G>A uc011ktw.2 + 0 158 c.158G>A c.(157-159)aGa>aAa p.R53K NM_012365 NP_036497 Q96R48 OR2A5_HUMAN Homo sapiens olfactory receptor, family 2, subfamily A, member 5 (OR2A5), mRNA. 53 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity cervix(1)|endometrium(3)|large_intestine(5)|lung(23)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1) 38 Melanoma(164;0.0783) CTGGACTCCAGACTGCACACC 0.512000 24 17 0 0 9.7654e-05 0 0 GRM7 2917 broad.mit.edu 37 3 7620310 7620310 + Nonsense_Mutation SNP C T T TCGA-BF-A1PZ-01A-11D-A19A-08 TCGA-BF-A1PZ-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6ef799ed-a9fa-4328-95d3-265699e16339 a8458b1d-3040-455b-ae7a-b1ac22b9f2b6 g.chr3:7620310C>T uc003bqm.2 + 7 1991 c.1717C>T c.(1717-1719)Cga>Tga p.R573* GRM7_uc011ata.1_Non-coding_Transcript|GRM7_uc011atb.1_Non-coding_Transcript|GRM7_uc010hcf.2_Non-coding_Transcript|GRM7_uc011atc.1_Non-coding_Transcript|GRM7_uc010hcg.2_Nonsense_Mutation_p.R573*|GRM7_uc003bql.2_Nonsense_Mutation_p.R573*|GRM7_uc003bqn.1_Nonsense_Mutation_p.R156*|GRM7_uc010hch.1_Nonsense_Mutation_p.R84* NM_000844 NP_000835 Q14831 GRM7_HUMAN Homo sapiens glutamate receptor, metabotropic 7 (GRM7), transcript variant 1, mRNA. 573 negative regulation of adenylate cyclase activity|negative regulation of cAMP biosynthetic process|negative regulation of glutamate secretion|sensory perception of smell|sensory perception of sound|synaptic transmission asymmetric synapse|axon|cell cortex|dendritic shaft|integral to plasma membrane|postsynaptic membrane|presynaptic active zone PDZ domain binding|adenylate cyclase inhibitor activity|calcium ion binding|glutamate binding|group III metabotropic glutamate receptor activity|serine binding breast(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(14)|lung(35)|ovary(4)|prostate(2)|skin(6)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2) 76 L-Glutamic Acid(DB00142) CAATGAAAATCGAACCGGATG 0.522000 24 18 0 0 0.000132079 0 0 FASTKD5 60493 broad.mit.edu 37 20 3129453 3129453 + Silent SNP G A A TCGA-BF-A1PZ-01A-11D-A19A-08 TCGA-BF-A1PZ-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6ef799ed-a9fa-4328-95d3-265699e16339 a8458b1d-3040-455b-ae7a-b1ac22b9f2b6 g.chr20:3129453G>A uc021vzx.1 - 0 264 c.264C>T c.(262-264)gcC>gcT p.A88A LOC100134015_uc002whv.1_Intron|UBOX5_uc002whw.3_Intron|UBOX5_uc002whx.3_Intron|UBOX5_uc002why.1_Intron|FASTKD5_uc002whz.3_Silent_p.A88A NM_021826 NP_068598 Q7L8L6 FAKD5_HUMAN Homo sapiens FAST kinase domains 5 (FASTKD5), mRNA. 88 apoptosis|cellular respiration mitochondrion ATP binding|protein kinase activity breast(2)|endometrium(2)|large_intestine(2)|lung(8)|prostate(2)|skin(1)|urinary_tract(2) 19 GCAATGTACTGGCCTTAGAGG 0.473000 48 34 0 0 0.000159656 0 0 HSD17B7P2 158160 broad.mit.edu 37 10 38654432 38654432 + Missense_Mutation SNP A G G rs2257765 TCGA-BF-A1PZ-01A-11D-A19A-08 TCGA-BF-A1PZ-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6ef799ed-a9fa-4328-95d3-265699e16339 a8458b1d-3040-455b-ae7a-b1ac22b9f2b6 g.chr10:38654432A>G uc010qex.1 + 4 599 c.524A>G c.(523-525)aAt>aGt p.N175S HSD17B7P2_uc001izq.3_Non-coding_Transcript|HSD17B7P2_uc001izo.1_Non-coding_Transcript|HSD17B7P2_uc001izp.1_Missense_Mutation_p.N173S Homo sapiens hydroxysteroid (17-beta) dehydrogenase 7 pseudogene 2 (HSD17B7P2), non-coding RNA. TCATCTCGCAATGCAAGGAAA 0.453000 33 5 0 0 0.000602214 0 0 ZDHHC17 23390 broad.mit.edu 37 12 77222236 77222236 + Nonsense_Mutation SNP G A A TCGA-BF-A1PZ-01A-11D-A19A-08 TCGA-BF-A1PZ-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6ef799ed-a9fa-4328-95d3-265699e16339 a8458b1d-3040-455b-ae7a-b1ac22b9f2b6 g.chr12:77222236G>A uc001syk.1 + 9 1270 c.1107G>A c.(1105-1107)tgG>tgA p.W369* NM_015336 NP_056151 Q8IUH5 ZDH17_HUMAN Homo sapiens zinc finger, DHHC-type containing 17 (ZDHHC17), mRNA. 369 lipoprotein transport|positive regulation of I-kappaB kinase/NF-kappaB cascade Golgi-associated vesicle membrane|integral to membrane magnesium ion transmembrane transporter activity|protein binding|protein-cysteine S-palmitoleyltransferase activity|signal transducer activity|zinc ion binding breast(2)|endometrium(2)|large_intestine(3)|liver(2)|lung(14) 23 CCAAATTCTGGATGTATGTGA 0.318000 158 114 0 0 0.000147903 0 0 OR4K13 390433 broad.mit.edu 37 14 20502103 20502103 + Missense_Mutation SNP G A A TCGA-BF-A1PZ-01A-11D-A19A-08 TCGA-BF-A1PZ-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6ef799ed-a9fa-4328-95d3-265699e16339 a8458b1d-3040-455b-ae7a-b1ac22b9f2b6 g.chr14:20502103G>A uc010tkz.2 - 0 815 c.815C>T c.(814-816)tCt>tTt p.S272F NM_001004714 NP_001004714 Q8NH42 OR4KD_HUMAN Homo sapiens olfactory receptor, family 4, subfamily K, member 13 (OR4K13), mRNA. 272 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity endometrium(3)|kidney(1)|large_intestine(2)|lung(11)|ovary(3)|skin(4) 24 all_cancers(95;0.00108) Epithelial(56;4.65e-07)|all cancers(55;2.9e-06) GBM - Glioblastoma multiforme(265;0.0064) GTAAAACACAGAAAGAATTTT 0.363000 14 18 0 0 0.000566183 0 0 WSCD2 9671 broad.mit.edu 37 12 108589838 108589838 + Missense_Mutation SNP C T T TCGA-BF-A1PZ-01A-11D-A19A-08 TCGA-BF-A1PZ-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6ef799ed-a9fa-4328-95d3-265699e16339 a8458b1d-3040-455b-ae7a-b1ac22b9f2b6 g.chr12:108589838C>T uc001tms.3 + 1 973 c.229C>T c.(229-231)Cgg>Tgg p.R77W WSCD2_uc001tmt.3_Missense_Mutation_p.R77W NM_014653 NP_055468 Q2TBF2 WSCD2_HUMAN Homo sapiens WSC domain containing 2 (WSCD2), mRNA. 77 integral to membrane breast(4)|endometrium(3)|kidney(1)|large_intestine(16)|liver(2)|lung(23)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(2) 57 CAGAGGTTTCCGGGACACAGG 0.617000 50 62 0 0 0.000147903 0 0 ZC3H14 79882 broad.mit.edu 37 14 89068387 89068387 + Missense_Mutation SNP G A A TCGA-BF-A1PZ-01A-11D-A19A-08 TCGA-BF-A1PZ-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6ef799ed-a9fa-4328-95d3-265699e16339 a8458b1d-3040-455b-ae7a-b1ac22b9f2b6 g.chr14:89068387G>A uc001xww.3 + 10 1699 c.1474G>A c.(1474-1476)Gat>Aat p.D492N ZC3H14_uc010twd.2_Missense_Mutation_p.D492N|ZC3H14_uc010twe.2_Missense_Mutation_p.D492N|ZC3H14_uc001xwx.3_Intron|ZC3H14_uc010twf.2_Intron|ZC3H14_uc001xwy.3_Intron|ZC3H14_uc010twg.2_Intron|ZC3H14_uc001xxa.3_Missense_Mutation_p.D37N|ZC3H14_uc001xxc.3_Intron|ZC3H14_uc001xxb.3_Intron NM_024824 NP_079100 Q6PJT7 ZC3HE_HUMAN Homo sapiens zinc finger CCCH-type containing 14 (ZC3H14), transcript variant 1, mRNA. 492 cytoplasm|nuclear speck RNA binding|protein binding|zinc ion binding cervix(2)|endometrium(3)|kidney(2)|large_intestine(3)|lung(6)|ovary(2)|prostate(1)|skin(2) 21 GAAGACTGCAGATTCCCTTCG 0.428000 121 19 0 0 0.000375601 0 0 IPO9 55705 broad.mit.edu 37 1 201823789 201823789 + Missense_Mutation SNP C A A TCGA-BF-A1PZ-01A-11D-A19A-08 TCGA-BF-A1PZ-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6ef799ed-a9fa-4328-95d3-265699e16339 a8458b1d-3040-455b-ae7a-b1ac22b9f2b6 g.chr1:201823789C>A uc001gwz.3 + 6 807 c.757C>A c.(757-759)Cag>Aag p.Q253K NM_018085 NP_060555 Q96P70 IPO9_HUMAN Homo sapiens importin 9 (IPO9), mRNA. 253 protein import into nucleus cytoplasm|nucleus histone binding|protein transporter activity cervix(1)|endometrium(5)|kidney(4)|large_intestine(5)|lung(16)|ovary(2)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1) 38 TCAGGCCCTCCAGATACCAGA 0.473000 153 7 0.000274275 0.00455924 0.000274275 1 0 DSE 29940 broad.mit.edu 37 6 116752185 116752185 + Missense_Mutation SNP C T T TCGA-BF-A1PZ-01A-11D-A19A-08 TCGA-BF-A1PZ-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6ef799ed-a9fa-4328-95d3-265699e16339 a8458b1d-3040-455b-ae7a-b1ac22b9f2b6 g.chr6:116752185C>T uc011ebg.2 + 3 895 c.796C>T c.(796-798)Ctc>Ttc p.L266F DSE_uc003pws.3_Missense_Mutation_p.L247F|DSE_uc003pwt.3_Missense_Mutation_p.L247F|DSE_uc003pwu.3_5'Flank NM_013352 NP_037484 Q9UL01 DSE_HUMAN Homo sapiens dermatan sulfate epimerase (DSE), transcript variant 1, mRNA. 247 dermatan sulfate biosynthetic process Golgi apparatus|endoplasmic reticulum|integral to membrane chondroitin-glucuronate 5-epimerase activity NS(1)|breast(2)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|liver(2)|lung(12)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1) 35 all_cancers(87;0.00019)|all_epithelial(87;0.000416)|Ovarian(999;0.133)|Colorectal(196;0.234) Epithelial(106;0.00915)|OV - Ovarian serous cystadenocarcinoma(136;0.0149)|GBM - Glioblastoma multiforme(226;0.0189)|all cancers(137;0.0262) TCTGGTCTTGCTCAGGGAGGT 0.463000 5 28 0 0 0.000227799 0 0 MICAL2 9645 broad.mit.edu 37 11 12265580 12265580 + Missense_Mutation SNP C T T TCGA-BF-A1PZ-01A-11D-A19A-08 TCGA-BF-A1PZ-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6ef799ed-a9fa-4328-95d3-265699e16339 a8458b1d-3040-455b-ae7a-b1ac22b9f2b6 g.chr11:12265580C>T uc001mjz.3 + 20 2993 c.2705C>T c.(2704-2706)cCt>cTt p.P902L MICAL2_uc010rch.1_Intron|MICAL2_uc001mka.3_Missense_Mutation_p.P902L|MICAL2_uc010rci.2_Missense_Mutation_p.P902L|MICAL2_uc001mkb.3_Intron|MICAL2_uc001mkc.3_Intron|MICAL2_uc001mkd.3_Intron|MICAL2_uc010rcj.2_Intron|MICAL2_uc001mkf.3_Non-coding_Transcript NM_014632 NP_055447 O94851 MICA2_HUMAN Homo sapiens microtubule associated monoxygenase, calponin and LIM domain containing 2 (MICAL2), mRNA. 902 cytoplasm|cytoskeleton monooxygenase activity|zinc ion binding breast(2)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(6)|lung(12)|ovary(2)|prostate(2)|skin(3)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(4) 47 Epithelial(150;0.00552) CCTCCATCTCCTCCCTCTCGC 0.468000 24 144 0 0 0.000147903 0 0 GOLGA1 2800 broad.mit.edu 37 9 127700878 127700878 + Missense_Mutation SNP C T T TCGA-BF-A1PZ-01A-11D-A19A-08 TCGA-BF-A1PZ-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6ef799ed-a9fa-4328-95d3-265699e16339 a8458b1d-3040-455b-ae7a-b1ac22b9f2b6 g.chr9:127700878C>T uc004bpc.3 - 2 455 c.113G>A c.(112-114)gGa>gAa p.G38E GOLGA1_uc010mwt.1_Missense_Mutation_p.G38E NM_002077 NP_002068 Q92805 GOGA1_HUMAN Homo sapiens golgin A1 (GOLGA1), mRNA. 38 Golgi cisterna membrane NS(1)|endometrium(5)|kidney(2)|large_intestine(3)|lung(7)|ovary(1)|stomach(1) 20 TGAGTCAGCTCCCATTGAGGC 0.403000 29 23 0 0 0.00047179 0 0 AHCTF1 25909 broad.mit.edu 37 1 247013241 247013241 + Nonsense_Mutation SNP C A A TCGA-BF-A1PZ-01A-11D-A19A-08 TCGA-BF-A1PZ-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6ef799ed-a9fa-4328-95d3-265699e16339 a8458b1d-3040-455b-ae7a-b1ac22b9f2b6 g.chr1:247013241C>A uc001ibv.2 - 32 6191 c.6094G>T c.(6094-6096)Gga>Tga p.G2032* AHCTF1_uc009xgs.1_Nonsense_Mutation_p.G884*|AHCTF1_uc001ibw.1_Non-coding_Transcript NM_015446 NP_056261 Q8WYP5 ELYS_HUMAN Homo sapiens AT hook containing transcription factor 1 (AHCTF1), mRNA. 2023 Necessary for nuclear localization (By similarity). cytokinesis|mRNA transport|mitotic prometaphase|nuclear pore complex assembly|protein transport|transmembrane transport condensed chromosome kinetochore|cytosol|nuclear matrix|nuclear membrane|nuclear pore|nucleoplasm DNA binding NS(1)|breast(6)|cervix(3)|endometrium(8)|kidney(6)|large_intestine(12)|liver(2)|lung(21)|ovary(5)|prostate(1)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(2) 74 all_cancers(71;3.05e-05)|all_epithelial(71;6.72e-06)|Ovarian(71;0.0173)|Breast(184;0.0318)|all_lung(81;0.0458)|Lung NSC(105;0.0518) all_cancers(173;0.0266) OV - Ovarian serous cystadenocarcinoma(106;0.00271) GCTGGTTTTCCAACATCAACA 0.393000 150 8 0.000274275 0.00455924 0.000274275 1 0 OR6C65 403282 broad.mit.edu 37 12 55795165 55795165 + Missense_Mutation SNP C T T TCGA-BF-A1PZ-01A-11D-A19A-08 TCGA-BF-A1PZ-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6ef799ed-a9fa-4328-95d3-265699e16339 a8458b1d-3040-455b-ae7a-b1ac22b9f2b6 g.chr12:55795165C>T uc010spl.2 + 0 853 c.853C>T c.(853-855)Ccc>Tcc p.P285S NM_001005518 NP_001005518 A6NJZ3 O6C65_HUMAN Homo sapiens olfactory receptor, family 6, subfamily C, member 65 (OR6C65), mRNA. 285 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity cervix(1)|endometrium(2)|large_intestine(3)|lung(9) 15 TATGTTGAATCCCTTTATTTA 0.353000 19 20 0 0 0.000295444 0 0 TAS2R41 259287 broad.mit.edu 37 7 143175155 143175155 + Missense_Mutation SNP G A A TCGA-BF-A1PZ-01A-11D-A19A-08 TCGA-BF-A1PZ-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6ef799ed-a9fa-4328-95d3-265699e16339 a8458b1d-3040-455b-ae7a-b1ac22b9f2b6 g.chr7:143175155G>A uc003wdc.1 + 0 190 c.190G>A c.(190-192)Gtg>Atg p.V64M LOC285965_uc003wda.3_Intron NM_176883 NP_795364 P59536 T2R41_HUMAN Homo sapiens taste receptor, type 2, member 41 (TAS2R41), mRNA. 64 sensory perception of taste integral to membrane G-protein coupled receptor activity endometrium(2)|large_intestine(2)|lung(10)|pancreas(1)|prostate(2)|skin(1) 18 Melanoma(164;0.15) GGTTGGGACGGTGCACAACTT 0.572000 40 34 0 0 0.000191422 0 0 TBC1D2B 23102 broad.mit.edu 37 15 78317818 78317818 + Missense_Mutation SNP G A A TCGA-BF-A1PZ-01A-11D-A19A-08 TCGA-BF-A1PZ-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6ef799ed-a9fa-4328-95d3-265699e16339 a8458b1d-3040-455b-ae7a-b1ac22b9f2b6 g.chr15:78317818G>A uc002bcy.4 - 4 869 c.869C>T c.(868-870)cCc>cTc p.P290L TBC1D2B_uc010bla.3_Missense_Mutation_p.P290L NM_144572 NP_653173 Q9UPU7 TBD2B_HUMAN Homo sapiens TBC1 domain family, member 2B (TBC1D2B), transcript variant 1, mRNA. 290 intracellular Rab GTPase activator activity|protein binding breast(3)|cervix(2)|endometrium(4)|kidney(1)|large_intestine(7)|lung(2)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(2) 26 AAAATCAAAGGGGAATCCTGA 0.408000 13 13 0 0 0.000422831 0 0 OR10A3 26496 broad.mit.edu 37 11 7960755 7960755 + Missense_Mutation SNP G A A TCGA-BF-A1PZ-01A-11D-A19A-08 TCGA-BF-A1PZ-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6ef799ed-a9fa-4328-95d3-265699e16339 a8458b1d-3040-455b-ae7a-b1ac22b9f2b6 g.chr11:7960755G>A uc010rbi.2 - 0 313 c.313C>T c.(313-315)Ctt>Ttt p.L105F NM_001003745 NP_001003745 P58181 O10A3_HUMAN Homo sapiens olfactory receptor, family 10, subfamily A, member 3 (OR10A3), mRNA. 105 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity p.L105I(2) endometrium(1)|large_intestine(5)|lung(12)|pancreas(1)|skin(2) 21 Epithelial(150;1.38e-07)|BRCA - Breast invasive adenocarcinoma(625;0.189) CCAAAAAGAAGGATGAAATAC 0.438000 5 35 0 0 0.000109025 0 0 UBAP2 55833 broad.mit.edu 37 9 33922684 33922684 + Splice_Site SNP C T T TCGA-BF-A1PZ-01A-11D-A19A-08 TCGA-BF-A1PZ-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6ef799ed-a9fa-4328-95d3-265699e16339 a8458b1d-3040-455b-ae7a-b1ac22b9f2b6 g.chr9:33922684C>T uc003ztq.1 - 28 3377 c.3264_splice c.e28+1 p.Q1088_splice UBAP2_uc011loc.1_Splice_Site_p.Q997_splice|UBAP2_uc011lod.1_Splice_Site_p.Q821_splice|UBAP2_uc011loe.1_Splice_Site_p.Q843_splice|UBAP2_uc003ztn.1_Splice_Site_p.Q327_splice|UBAP2_uc003zto.1_Splice_Site_p.Q327_splice|UBAP2_uc003ztp.2_Splice_Site_p.Q327_splice NM_018449 NP_060919 Q5T6F2 UBAP2_HUMAN Homo sapiens ubiquitin associated protein 2 (UBAP2), mRNA. 1088 endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(7)|lung(13)|ovary(3)|stomach(1) 32 LUSC - Lung squamous cell carcinoma(29;0.00575) GBM - Glioblastoma multiforme(74;0.168) ACTGTACTCACCTGTGCATCC 0.622000 2 11 0 0 6.40141e-05 0 0 PRSS38 339501 broad.mit.edu 37 1 228003816 228003816 + Silent SNP G A A TCGA-BF-A1PZ-01A-11D-A19A-08 TCGA-BF-A1PZ-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6ef799ed-a9fa-4328-95d3-265699e16339 a8458b1d-3040-455b-ae7a-b1ac22b9f2b6 g.chr1:228003816G>A uc001hrh.3 + 1 174 c.174G>A c.(172-174)ggG>ggA p.G58G NM_183062 NP_898885 A1L453 PRS38_HUMAN Homo sapiens protease, serine, 38 (PRSS38), mRNA. 58 proteolysis extracellular region serine-type endopeptidase activity p.G58V(1) endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(9)|ovary(2)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1) 23 GCATGGAGGGGAAAATCCTGG 0.692000 7 77 0 0 0.000147903 0 0 SLITRK5 26050 broad.mit.edu 37 13 88329698 88329698 + Silent SNP C T T TCGA-BF-A1PZ-01A-11D-A19A-08 TCGA-BF-A1PZ-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6ef799ed-a9fa-4328-95d3-265699e16339 a8458b1d-3040-455b-ae7a-b1ac22b9f2b6 g.chr13:88329698C>T uc001vln.3 + 1 2274 c.2055C>T c.(2053-2055)ttC>ttT p.F685F SLITRK5_uc010tic.1_Silent_p.F444F|SLITRK5_uc021rlc.1_Silent_p.F685F NM_015567 NP_056382 O94991 SLIK5_HUMAN Homo sapiens SLIT and NTRK-like family, member 5 (SLITRK5), mRNA. 685 integral to membrane p.F685F(2) breast(1)|central_nervous_system(2)|endometrium(6)|kidney(6)|large_intestine(14)|lung(40)|ovary(2)|pancreas(2)|prostate(3)|skin(1)|upper_aerodigestive_tract(4) 81 all_neural(89;0.101)|Medulloblastoma(90;0.163) CCGGGCTCTTCGTGCTGGTCA 0.592000 8 38 0 0 0.000270559 0 0 PCDHGC5 56097 broad.mit.edu 37 5 140812560 140812560 + Missense_Mutation SNP G C C TCGA-BF-A1PZ-01A-11D-A19A-08 TCGA-BF-A1PZ-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6ef799ed-a9fa-4328-95d3-265699e16339 a8458b1d-3040-455b-ae7a-b1ac22b9f2b6 g.chr5:140812560G>C uc003lkt.2 + 0 2403 c.2234G>C c.(2233-2235)gGg>gCg p.G745A 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_uc003lkq.2_Intron|PCDHGC5_uc003lkp.2_Intron|PCDHGC5_uc011dba.2_Missense_Mutation_p.G745A NM_003735 NP_003726 Q9Y5F6 PCDGM_HUMAN Homo sapiens protocadherin gamma subfamily A, 12 (PCDHGA12), transcript variant 1, mRNA. 755 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) GGCGTGGACGGGGTGCAGGCT 0.642000 76 4 0 0 0.000602214 0 0 TDRD1 56165 broad.mit.edu 37 10 115963932 115963932 + Missense_Mutation SNP G A A TCGA-BF-A1PZ-01A-11D-A19A-08 TCGA-BF-A1PZ-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6ef799ed-a9fa-4328-95d3-265699e16339 a8458b1d-3040-455b-ae7a-b1ac22b9f2b6 g.chr10:115963932G>A uc001lbg.1 + 8 1235 c.1082G>A c.(1081-1083)aGa>aAa p.R361K TDRD1_uc001lbf.3_Missense_Mutation_p.R352K|TDRD1_uc001lbh.1_Missense_Mutation_p.R352K|TDRD1_uc001lbi.1_Missense_Mutation_p.R352K|TDRD1_uc010qsc.2_Intron|TDRD1_uc001lbj.3_Missense_Mutation_p.R70K NM_198795 NP_942090 Q9BXT4 TDRD1_HUMAN Homo sapiens tudor domain containing 1 (TDRD1), mRNA. 361 Tudor 1. DNA methylation involved in gamete generation|gene silencing by RNA|germ cell development|meiosis|multicellular organismal development|piRNA metabolic process|spermatogenesis pi-body nucleic acid binding|protein binding|zinc ion binding breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(11)|lung(15)|ovary(1)|prostate(2)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(5) 48 Colorectal(252;0.172)|Breast(234;0.188) Epithelial(162;0.0343)|all cancers(201;0.0754) CCATTAAACAGAATTTACCAC 0.353000 14 16 0 0 0.000308642 0 0 MUC16 94025 broad.mit.edu 37 19 9073131 9073131 + Missense_Mutation SNP G A A TCGA-BF-A1PZ-01A-11D-A19A-08 TCGA-BF-A1PZ-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6ef799ed-a9fa-4328-95d3-265699e16339 a8458b1d-3040-455b-ae7a-b1ac22b9f2b6 g.chr19:9073131G>A uc002mkp.3 - 2 14519 c.14315C>T c.(14314-14316)cCt>cTt p.P4772L NM_024690 NP_078966 Q8WXI7 MUC16_HUMAN Homo sapiens mucin 16, cell surface associated (MUC16), mRNA. 4774 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 CATAGAAACAGGAGAGGAGGT 0.483000 28 16 0 0 0.000308642 0 0 UBE3B 89910 broad.mit.edu 37 12 109962272 109962272 + Silent SNP C T T TCGA-BF-A1PZ-01A-11D-A19A-08 TCGA-BF-A1PZ-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6ef799ed-a9fa-4328-95d3-265699e16339 a8458b1d-3040-455b-ae7a-b1ac22b9f2b6 g.chr12:109962272C>T uc001top.3 + 22 3135 c.2532C>T c.(2530-2532)ggC>ggT p.G844G UBE3B_uc001toq.3_Silent_p.G844G|UBE3B_uc001tos.3_Silent_p.G271G|UBE3B_uc001too.1_Non-coding_Transcript|UBE3B_uc009zvj.1_Silent_p.G844G NM_130466 NP_904324 Q7Z3V4 UBE3B_HUMAN Homo sapiens ubiquitin protein ligase E3B (UBE3B), transcript variant 1, mRNA. 844 HECT. protein ubiquitination involved in ubiquitin-dependent protein catabolic process intracellular ubiquitin-protein ligase activity NS(1)|breast(3)|endometrium(6)|kidney(4)|large_intestine(7)|lung(20)|ovary(2)|urinary_tract(2) 45 CTGACCTGGGCCTGACGCTGT 0.567000 29 18 0 0 0.000375601 0 0 LAMB3 3914 broad.mit.edu 37 1 209796403 209796403 + Missense_Mutation SNP C A A TCGA-BF-A1PZ-01A-11D-A19A-08 TCGA-BF-A1PZ-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6ef799ed-a9fa-4328-95d3-265699e16339 a8458b1d-3040-455b-ae7a-b1ac22b9f2b6 g.chr1:209796403C>A uc001hhg.3 - 15 2870 c.2480G>T c.(2479-2481)gGg>gTg p.G827V LAMB3_uc009xco.3_Missense_Mutation_p.G827V|LAMB3_uc001hhh.3_Missense_Mutation_p.G827V|LAMB3_uc010psl.1_Non-coding_Transcript NM_001017402 NP_001121113 Q13751 LAMB3_HUMAN Homo sapiens laminin, beta 3 (LAMB3), transcript variant 2, mRNA. 827 Domain I. cell adhesion|epidermis development|hemidesmosome assembly structural molecule activity NS(1)|breast(3)|central_nervous_system(2)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(11)|lung(13)|ovary(1)|prostate(1)|skin(4)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 45 OV - Ovarian serous cystadenocarcinoma(81;0.0519) CAAGAAGGCCCCACCGGCCCT 0.652000 80 7 0.000274275 0.00455924 0.000274275 1 0 FZD8 8325 broad.mit.edu 37 10 35928727 35928727 + Missense_Mutation SNP G A A TCGA-BF-A1PZ-01A-11D-A19A-08 TCGA-BF-A1PZ-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6ef799ed-a9fa-4328-95d3-265699e16339 a8458b1d-3040-455b-ae7a-b1ac22b9f2b6 g.chr10:35928727G>A uc001iyz.1 - 0 1636 c.1631C>T c.(1630-1632)gCc>gTc p.A544V NM_031866 NP_114072 Q9H461 FZD8_HUMAN Homo sapiens frizzled family receptor 8 (FZD8), mRNA. 544 T cell differentiation in thymus|axonogenesis|brain development|canonical Wnt receptor signaling pathway|embryo development|gonad development|vasculature development Golgi apparatus|cell projection|integral to membrane|plasma membrane G-protein coupled receptor activity|PDZ domain binding|Wnt receptor activity|Wnt-protein binding central_nervous_system(1)|endometrium(3)|large_intestine(2)|lung(3)|prostate(1)|urinary_tract(1) 11 CACCACCGCGGCGGGCACGGT 0.677000 5 4 0 0 0.000602214 0 0 NUDT21 11051 broad.mit.edu 37 16 56473653 56473653 + Silent SNP C A A TCGA-BF-A1PZ-01A-11D-A19A-08 TCGA-BF-A1PZ-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6ef799ed-a9fa-4328-95d3-265699e16339 a8458b1d-3040-455b-ae7a-b1ac22b9f2b6 g.chr16:56473653C>A uc002eja.3 - 3 534 c.387G>T c.(385-387)ctG>ctT p.L129L NM_007006 NP_008937 O43809 CPSF5_HUMAN Homo sapiens nudix (nucleoside diphosphate linked moiety X)-type motif 21 (NUDT21), mRNA. 129 Necessary for RNA-binding.|Necessary for interactions with PAPOLA and PABPN1.|Nudix hydrolase. mRNA polyadenylation|nuclear mRNA splicing, via spliceosome|protein tetramerization|termination of RNA polymerase II transcription centrosome|mRNA cleavage factor complex|paraspeckles AU-rich element binding|histone deacetylase binding|hydrolase activity|mRNA binding|protein homodimerization activity p.L129L(2) breast(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(4) 7 CCTGACGACCCAGTATCTGTC 0.403000 154 8 2.17888e-05 0.000372844 0.000442599 1 0 USP43 124739 broad.mit.edu 37 17 9615335 9615335 + Missense_Mutation SNP C T T TCGA-BF-A1PZ-01A-11D-A19A-08 TCGA-BF-A1PZ-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6ef799ed-a9fa-4328-95d3-265699e16339 a8458b1d-3040-455b-ae7a-b1ac22b9f2b6 g.chr17:9615335C>T uc010cod.3 + 13 2221 c.2221C>T c.(2221-2223)Cac>Tac p.H741Y USP43_uc002gma.4_Missense_Mutation_p.H430Y|USP43_uc010vva.2_Missense_Mutation_p.H736Y|USP43_uc010coe.3_Missense_Mutation_p.H538Y|USP43_uc002gmc.4_Missense_Mutation_p.H253Y NM_153210 NP_694942 Q70EL4 UBP43_HUMAN Homo sapiens ubiquitin specific peptidase 43 (USP43), mRNA. 741 ubiquitin-dependent protein catabolic process cysteine-type peptidase activity|ubiquitin thiolesterase activity breast(2)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(5)|ovary(2)|upper_aerodigestive_tract(3)|urinary_tract(2) 26 GCTCGGGAGCCACGCTGGCAG 0.632000 7 6 0 0 8.12818e-05 0 0 CHRM2 1129 broad.mit.edu 37 7 136700449 136700449 + Silent SNP G A A TCGA-BF-A1PZ-01A-11D-A19A-08 TCGA-BF-A1PZ-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6ef799ed-a9fa-4328-95d3-265699e16339 a8458b1d-3040-455b-ae7a-b1ac22b9f2b6 g.chr7:136700449G>A uc003vtf.1 + 3 1460 c.837G>A c.(835-837)gaG>gaA p.E279E CHRM2_uc003vtg.1_Silent_p.E279E|CHRM2_uc003vti.1_Silent_p.E279E|CHRM2_uc003vtm.1_Silent_p.E279E|CHRM2_uc003vtj.1_Silent_p.E279E|CHRM2_uc003vtk.1_Silent_p.E279E|CHRM2_uc003vtl.1_Silent_p.E279E|CHRM2_uc003vtn.1_Silent_p.E279E|CHRM2_uc003vto.1_Silent_p.E279E|AK097470_uc003vtp.1_Intron|CHRM2_uc022ame.1_Silent_p.E279E NM_001006630 NP_001006633 P08172 ACM2_HUMAN Homo sapiens cholinergic receptor, muscarinic 2 (CHRM2), transcript variant 1, mRNA. 279 G-protein signaling, coupled to cAMP nucleotide second messenger|activation of phospholipase C activity by muscarinic acetylcholine receptor signaling pathway|nervous system development|regulation of heart contraction|response to virus cell junction|integral to plasma membrane|postsynaptic membrane muscarinic acetylcholine receptor activity|protein binding central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(13)|liver(1)|lung(29)|ovary(4)|pancreas(2)|prostate(2)|skin(3)|upper_aerodigestive_tract(1) 68 Anisotropine Methylbromide(DB00517)|Atropine(DB00572)|Benzquinamide(DB00767)|Carbachol(DB00411)|Cryptenamine(DB00785)|Cyclizine(DB01176)|Desipramine(DB01151)|Diphenidol(DB01231)|Doxacurium chloride(DB01135)|Doxacurium(DB01334)|Flavoxate(DB01148)|Gallamine Triethiodide(DB00483)|Homatropine Methylbromide(DB00725)|Hyoscyamine(DB00424)|Ipratropium(DB00332)|Methotrimeprazine(DB01403)|Metixene(DB00340)|Metocurine(DB01336)|Mivacurium(DB01226)|Olanzapine(DB00334)|Oxybutynin(DB01062)|Oxyphencyclimine(DB00383)|Pilocarpine(DB01085)|Procyclidine(DB00387)|Promazine(DB00420)|Promethazine(DB01069)|Propiomazine(DB00777)|Rocuronium(DB00728)|Thiethylperazine(DB00372)|Tolterodine(DB01036)|Tridihexethyl(DB00505)|Triflupromazine(DB00508) AGGGAGAGGAGAAGGAGAGCT 0.498000 6 7 0 0 0.000157383 0 0 PSRC1 84722 broad.mit.edu 37 1 109824279 109824280 + Silent DNP GG TT TT TCGA-BF-A1PZ-01A-11D-A19A-08 TCGA-BF-A1PZ-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6ef799ed-a9fa-4328-95d3-265699e16339 a8458b1d-3040-455b-ae7a-b1ac22b9f2b6 g.chr1:109824279_109824280GG>TT uc001dxj.3 - 3 626_627 c.480_481CC>AA c.(478-483)ctccgg>ctAAgg p.160_161LR>LR PSRC1_uc001dxb.3_5'UTR|PSRC1_uc001dxc.3_Silent_p.160_161LR>LR|PSRC1_uc001dxd.3_Silent_p.160_161LR>LR|PSRC1_uc001dxf.3_Silent_p.160_161LR>LR NM_032636 NP_116025 Q6PGN9 PSRC1_HUMAN Homo sapiens proline/serine-rich coiled-coil 1 (PSRC1), transcript variant 1, mRNA. 160 4 X 4 AA repeats of P-X-X-P. cell division|microtubule bundle formation|mitotic metaphase plate congression|negative regulation of cell growth|positive regulation of microtubule polymerization|positive regulation of transcription, DNA-dependent|regulation of mitotic spindle organization cytosol|midbody|spindle pole microtubule binding p.R161L(1) endometrium(1)|large_intestine(1)|lung(2)|prostate(2)|skin(1) 7 all_epithelial(167;0.000114)|all_lung(203;0.000321)|Lung NSC(277;0.000626)|Breast(1374;0.244) Colorectal(144;0.0286)|Lung(183;0.0658)|COAD - Colon adenocarcinoma(174;0.112)|Epithelial(280;0.188)|all cancers(265;0.213) GATGTAGCCCGGAGAGCCCTGA 0.584000 207 7 0 0 6.4e-05 0 0 TLR7 51284 broad.mit.edu 37 X 12905811 12905811 + Silent SNP G A A TCGA-BF-A1PZ-01A-11D-A19A-08 TCGA-BF-A1PZ-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6ef799ed-a9fa-4328-95d3-265699e16339 a8458b1d-3040-455b-ae7a-b1ac22b9f2b6 g.chrX:12905811G>A uc004cvc.3 + 2 2323 c.2184G>A c.(2182-2184)ctG>ctA p.L728L NM_016562 NP_057646 Q9NYK1 TLR7_HUMAN Homo sapiens toll-like receptor 7 (TLR7), mRNA. 728 I-kappaB phosphorylation|cellular response to mechanical stimulus|defense response to virus|inflammatory response|innate immune response|positive regulation of NF-kappaB import into nucleus|positive regulation of chemokine production|positive regulation of interferon-alpha biosynthetic process|positive regulation of interferon-beta biosynthetic process|positive regulation of interferon-gamma biosynthetic process|positive regulation of interleukin-8 biosynthetic process|positive regulation of interleukin-8 production early phagosome|endoplasmic reticulum membrane|endosome membrane|integral to membrane|lysosome|plasma membrane double-stranded RNA binding|siRNA binding|single-stranded RNA binding|transmembrane receptor activity NS(1)|breast(4)|endometrium(5)|kidney(1)|large_intestine(8)|lung(18)|ovary(2)|pancreas(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1) 44 Imiquimod(DB00724) TCAAGAATCTGATTCTTAAGA 0.418000 56 41 0 0 0.000147903 0 0 ZNF616 90317 broad.mit.edu 37 19 52618538 52618538 + Missense_Mutation SNP G A A TCGA-BF-A1PZ-01A-11D-A19A-08 TCGA-BF-A1PZ-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6ef799ed-a9fa-4328-95d3-265699e16339 a8458b1d-3040-455b-ae7a-b1ac22b9f2b6 g.chr19:52618538G>A uc002pym.3 - 3 2162 c.1879C>T c.(1879-1881)Cat>Tat p.H627Y ZNF616_uc002pyn.3_Non-coding_Transcript NM_178523 NP_848618 Q08AN1 ZN616_HUMAN Homo sapiens zinc finger protein 616 (ZNF616), mRNA. 627 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding breast(4)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(14)|lung(14)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1) 48 GBM - Glioblastoma multiforme(134;0.00392)|OV - Ovarian serous cystadenocarcinoma(262;0.0189) TCTCCGGTATGAATTCTCTGA 0.433000 25 16 0 0 0.000422831 0 0 KIF16B 55614 broad.mit.edu 37 20 16355038 16355038 + Nonsense_Mutation SNP G A A rs141670446 TCGA-BF-A1PZ-01A-11D-A19A-08 TCGA-BF-A1PZ-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6ef799ed-a9fa-4328-95d3-265699e16339 a8458b1d-3040-455b-ae7a-b1ac22b9f2b6 g.chr20:16355038G>A uc002wpg.2 - 19 3373 c.3214C>T c.(3214-3216)Cag>Tag p.Q1072* KIF16B_uc002wpe.1_Nonsense_Mutation_p.Q454*|KIF16B_uc002wpf.1_Nonsense_Mutation_p.Q454*|KIF16B_uc010gch.2_Intron|KIF16B_uc010gci.2_Nonsense_Mutation_p.Q1072* NM_024704 NP_078980 Q96L93 KI16B_HUMAN Homo sapiens kinesin family member 16B (KIF16B), transcript variant 2, mRNA. 1072 Golgi to endosome transport|cell communication|early endosome to late endosome transport|endoderm development|epidermal growth factor receptor signaling pathway|fibroblast growth factor receptor signaling pathway|formation of primary germ layer|microtubule-based movement|receptor catabolic process|regulation of receptor recycling early endosome membrane|microtubule ATP binding|phosphatidylinositol-3,4,5-trisphosphate binding|phosphatidylinositol-3,4-bisphosphate binding|phosphatidylinositol-3,5-bisphosphate binding|phosphatidylinositol-3-phosphate binding|plus-end-directed microtubule motor activity NS(2)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(6)|large_intestine(15)|lung(24)|ovary(1)|prostate(15)|skin(3)|upper_aerodigestive_tract(2) 74 TTCAGCTGCTGGATTTCATAT 0.428000 67 58 0 0 0.000147903 0 0 FAM19A5 25817 broad.mit.edu 37 22 49103657 49103657 + Splice_Site SNP G A A TCGA-BF-A1PZ-01A-11D-A19A-08 TCGA-BF-A1PZ-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6ef799ed-a9fa-4328-95d3-265699e16339 a8458b1d-3040-455b-ae7a-b1ac22b9f2b6 g.chr22:49103657G>A uc003bim.4 + 3 507 c.390_splice c.e3+1 p.T130_splice FAM19A5_uc003bio.4_Splice_Site_p.T123_splice NM_001082967 NP_001076436 Q7Z5A7 F19A5_HUMAN Homo sapiens family with sequence similarity 19 (chemokine (C-C motif)-like), member A5 (FAM19A5), transcript variant 1, mRNA. 130 extracellular region|integral to membrane large_intestine(1)|lung(6) 7 all_cancers(38;2.95e-11)|all_epithelial(38;3.07e-10)|all_lung(38;2.89e-05)|Breast(42;0.000396)|Lung NSC(38;0.000471)|Ovarian(80;0.00934)|Lung SC(80;0.195) UCEC - Uterine corpus endometrioid carcinoma (28;0.0227)|BRCA - Breast invasive adenocarcinoma(115;0.119) GACCACCACGGTATGTGGCCC 0.657000 30 28 0 0 0.000409698 0 0 CYP4B1 1580 broad.mit.edu 37 1 47276620 47276620 + Splice_Site SNP G A A TCGA-BF-A1PZ-01A-11D-A19A-08 TCGA-BF-A1PZ-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6ef799ed-a9fa-4328-95d3-265699e16339 a8458b1d-3040-455b-ae7a-b1ac22b9f2b6 g.chr1:47276620G>A uc001cqn.4 + 2 406 c.322_splice c.e2+1 p.D108_splice CYP4B1_uc009vyl.1_Splice_Site|CYP4B1_uc001cqm.4_Splice_Site_p.D108_splice|CYP4B1_uc009vym.3_Splice_Site_p.G108_splice|CYP4B1_uc010omk.2_Intron|CYP4B1_uc010oml.1_5'Flank NM_001099772 NP_001093242 P13584 CP4B1_HUMAN Homo sapiens cytochrome P450, family 4, subfamily B, polypeptide 1 (CYP4B1), transcript variant 1, mRNA. 108 xenobiotic metabolic process endoplasmic reticulum membrane|microsome aromatase activity|electron carrier activity|heme binding|oxygen binding NS(2)|breast(1)|endometrium(2)|kidney(1)|large_intestine(12)|lung(9)|ovary(1)|pancreas(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(2) 36 Acute lymphoblastic leukemia(166;0.155) ACAGCCGTGGGGGTGAGGAGA 0.567000 0 14 0 0 7.07596e-05 0 0 KCNK5 8645 broad.mit.edu 37 6 39158965 39158965 + Missense_Mutation SNP C T T TCGA-BF-A1PZ-01A-11D-A19A-08 TCGA-BF-A1PZ-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6ef799ed-a9fa-4328-95d3-265699e16339 a8458b1d-3040-455b-ae7a-b1ac22b9f2b6 g.chr6:39158965C>T uc003oon.3 - 4 1565 c.1201G>A c.(1201-1203)Gaa>Aaa p.E401K NM_003740 NP_003731 O95279 KCNK5_HUMAN Homo sapiens potassium channel, subfamily K, member 5 (KCNK5), mRNA. 401 excretion integral to plasma membrane potassium channel activity|voltage-gated ion channel activity central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(6)|lung(4)|skin(3) 19 GGCTCGCATTCCTCGCTGATG 0.627000 4 33 0 0 0.000109025 0 0 XPOT 11260 broad.mit.edu 37 12 64821849 64821849 + Silent SNP C T T TCGA-BF-A1PZ-01A-11D-A19A-08 TCGA-BF-A1PZ-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6ef799ed-a9fa-4328-95d3-265699e16339 a8458b1d-3040-455b-ae7a-b1ac22b9f2b6 g.chr12:64821849C>T uc001ssb.3 + 15 2192 c.1686C>T c.(1684-1686)ttC>ttT p.F562F NM_007235 NP_009166 O43592 XPOT_HUMAN Homo sapiens exportin, tRNA (nuclear export receptor for tRNAs) (XPOT), mRNA. 562 Necessary for tRNA-binding, cytoplasmic localization and nuclear export. intracellular protein transport|tRNA export from nucleus cytoplasm|nucleoplasm protein transporter activity|tRNA binding NS(1)|breast(2)|central_nervous_system(3)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(7)|lung(12)|ovary(4)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 45 GBM - Glioblastoma multiforme(28;0.0404) TGAATCCTTTCATTGAGGATA 0.318000 25 17 0 0 9.7654e-05 0 0 MRGPRX1 259249 broad.mit.edu 37 11 18956224 18956224 + Silent SNP G A A TCGA-BF-A1PZ-01A-11D-A19A-08 TCGA-BF-A1PZ-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6ef799ed-a9fa-4328-95d3-265699e16339 a8458b1d-3040-455b-ae7a-b1ac22b9f2b6 g.chr11:18956224G>A uc001mpg.3 - 0 326 c.108C>T c.(106-108)atC>atT p.I36I NM_147199 NP_671732 Q96LB2 MRGX1_HUMAN Homo sapiens MAS-related GPR, member X1 (MRGPRX1), mRNA. 36 I -> V (in dbSNP:rs11024885). acute-phase response integral to membrane|plasma membrane G-protein coupled receptor activity central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(8)|lung(12)|pancreas(2)|prostate(3)|skin(2)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1) 36 CAAGGGAAACGATGCACGTCA 0.557000 92 93 0 0 0.000147903 0 0 F2 2147 broad.mit.edu 37 11 46748278 46748278 + Silent SNP C T T TCGA-BF-A1PZ-01A-11D-A19A-08 TCGA-BF-A1PZ-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6ef799ed-a9fa-4328-95d3-265699e16339 a8458b1d-3040-455b-ae7a-b1ac22b9f2b6 g.chr11:46748278C>T uc001ndf.4 + 8 1064 c.1021C>T c.(1021-1023)Ctg>Ttg p.L341L NM_000506 NP_000497 P00734 THRB_HUMAN Homo sapiens coagulation factor II (thrombin) (F2), mRNA. 341 STAT protein import into nucleus|activation of caspase activity|acute-phase response|blood coagulation, intrinsic pathway|cell surface receptor linked signaling pathway|cytosolic calcium ion homeostasis|fibrinolysis|leukocyte migration|negative regulation of astrocyte differentiation|negative regulation of fibrinolysis|negative regulation of platelet activation|negative regulation of proteolysis|peptidyl-glutamic acid carboxylation|platelet activation|positive regulation of collagen biosynthetic process|positive regulation of protein phosphorylation|positive regulation of reactive oxygen species metabolic process|positive regulation of release of sequestered calcium ion into cytosol|post-translational protein modification|proteolysis|tyrosine phosphorylation of STAT protein Golgi lumen|cytosol|endoplasmic reticulum lumen|extracellular space|plasma membrane|soluble fraction calcium ion binding|growth factor activity|serine-type endopeptidase activity|thrombospondin receptor activity endometrium(3)|kidney(2)|large_intestine(4)|lung(10)|ovary(3)|prostate(2)|stomach(2)|upper_aerodigestive_tract(1) 27 all_lung(304;0.000414)|Lung NSC(402;0.0011) BRCA - Breast invasive adenocarcinoma(625;0.146) Antihemophilic Factor(DB00025)|Argatroban(DB00278)|Bivalirudin(DB00006)|Coagulation Factor IX(DB00100)|Drotrecogin alfa(DB00055)|Enoxaparin(DB01225)|Heparin(DB01109)|Lepirudin(DB00001)|Menadione(DB00170)|Proflavine(DB01123)|Simvastatin(DB00641)|Suramin(DB04786)|Warfarin(DB00682)|Ximelagatran(DB04898) GCTGCGACCTCTGTTCGAGAA 0.612000 5 29 0 0 0.000184323 0 0 OR52E4 390081 broad.mit.edu 37 11 5905551 5905551 + Missense_Mutation SNP A C C TCGA-BF-A1PZ-01A-11D-A19A-08 TCGA-BF-A1PZ-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6ef799ed-a9fa-4328-95d3-265699e16339 a8458b1d-3040-455b-ae7a-b1ac22b9f2b6 g.chr11:5905551A>C uc010qzs.2 + 0 29 c.29A>C c.(28-30)tAt>tCt p.Y10S TRIM5_uc001mbq.1_Intron NM_001005165 NP_001005165 Q8NGH9 O52E4_HUMAN Homo sapiens olfactory receptor, family 52, subfamily E, member 4 (OR52E4), mRNA. 10 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity autonomic_ganglia(1)|endometrium(1)|kidney(1)|large_intestine(7)|liver(2)|lung(13)|ovary(2)|prostate(1)|skin(2) 30 Medulloblastoma(188;0.00776)|all_neural(188;0.0652)|Breast(177;0.114) Epithelial(150;1.24e-08)|BRCA - Breast invasive adenocarcinoma(625;0.135) ACCCACTTCTATCCCCCCTTC 0.443000 3 36 0 0 0.000509022 0 0 CSMD1 64478 broad.mit.edu 37 8 3165304 3165304 + Missense_Mutation SNP C T T TCGA-BF-A1PZ-01A-11D-A19A-08 TCGA-BF-A1PZ-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6ef799ed-a9fa-4328-95d3-265699e16339 a8458b1d-3040-455b-ae7a-b1ac22b9f2b6 g.chr8:3165304C>T uc022aqr.1 - 24 4253 c.3863G>A c.(3862-3864)cGa>cAa p.R1288Q CSMD1_uc011kwj.2_Missense_Mutation_p.R681Q|CSMD1_uc003wqe.3_Missense_Mutation_p.R445Q NM_033225 NP_150094 Q96PZ7 CSMD1_HUMAN Homo sapiens CUB and Sushi multiple domains 1 (CSMD1), mRNA. 1289 CUB 8. integral to membrane breast(20)|large_intestine(5) 25 all_cancers(1;5.7e-41)|all_epithelial(1;2.54e-36)|Lung NSC(1;7.54e-11)|all_lung(1;3.2e-10)|Hepatocellular(1;3.78e-05)|Breast(1;0.000196)|Myeloproliferative disorder(4;0.000374)|Esophageal squamous(1;0.0157)|Ovarian(12;0.091)|Renal(68;0.144)|Colorectal(14;0.234) all cancers(1;5.03e-41)|Epithelial(1;4.78e-31)|Lung(1;1.14e-14)|LUSC - Lung squamous cell carcinoma(1;2.34e-14)|GBM - Glioblastoma multiforme(1;4.49e-10)|Colorectal(4;1.18e-07)|OV - Ovarian serous cystadenocarcinoma(1;3.2e-07)|BRCA - Breast invasive adenocarcinoma(1;6.17e-07)|COAD - Colon adenocarcinoma(4;0.000539)|READ - Rectum adenocarcinoma(4;0.00896)|Kidney(5;0.00957)|KIRC - Kidney renal clear cell carcinoma(5;0.0689) GGACAATATTCGTCCTGATGT 0.478000 4 48 0 0 0.000147903 0 0 SH2D4B 387694 broad.mit.edu 37 10 82331187 82331187 + Splice_Site SNP G A A TCGA-BF-A1PZ-01A-11D-A19A-08 TCGA-BF-A1PZ-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6ef799ed-a9fa-4328-95d3-265699e16339 a8458b1d-3040-455b-ae7a-b1ac22b9f2b6 g.chr10:82331187G>A uc001kck.1 + 3 778 c.348_splice c.e3-1 p.W116_splice SH2D4B_uc001kcl.1_Splice_Site_p.W67_splice NM_207372 NP_997255 Q5SQS7 SH24B_HUMAN Homo sapiens SH2 domain containing 4B (SH2D4B), transcript variant 1, mRNA. 115 Glu-rich. endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(2)|lung(6) 13 Colorectal(32;0.229) CTCTTGGTAGGAGACAGAAGG 0.463000 27 15 0 0 0.000308642 0 0 IGF1R 3480 broad.mit.edu 37 15 99454591 99454591 + Missense_Mutation SNP C T T TCGA-BF-A1PZ-01A-11D-A19A-08 TCGA-BF-A1PZ-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6ef799ed-a9fa-4328-95d3-265699e16339 a8458b1d-3040-455b-ae7a-b1ac22b9f2b6 g.chr15:99454591C>T uc002bul.3 + 6 1560 c.1510C>T c.(1510-1512)Cgc>Tgc p.R504C IGF1R_uc010urq.2_Missense_Mutation_p.R504C|IGF1R_uc010bon.3_Missense_Mutation_p.R504C|IGF1R_uc010urr.1_5'UTR NM_000875 NP_000866 P08069 IGF1R_HUMAN Homo sapiens insulin-like growth factor 1 receptor (IGF1R), mRNA. 504 Fibronectin type-III 1. anti-apoptosis|immune response|insulin receptor signaling pathway|phosphatidylinositol-mediated signaling|positive regulation of DNA replication|positive regulation of cell migration|positive regulation of cell proliferation|protein autophosphorylation|protein tetramerization microsome ATP binding|identical protein binding|insulin binding|insulin receptor binding|insulin receptor substrate binding|insulin-like growth factor I binding|insulin-like growth factor receptor activity|metal ion binding|phosphatidylinositol 3-kinase binding NS(2)|breast(1)|central_nervous_system(1)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(8)|large_intestine(13)|lung(20)|ovary(1)|prostate(3)|upper_aerodigestive_tract(3)|urinary_tract(1) 63 all_cancers(4;4.17e-14)|all_epithelial(3;4.34e-15)|Lung NSC(78;0.00175)|all_lung(78;0.00351)|Melanoma(26;0.00505)|Medulloblastoma(229;0.163) Epithelial(2;1.94e-12)|all cancers(5;6.83e-11)|BRCA - Breast invasive adenocarcinoma(2;2.88e-09)|OV - Ovarian serous cystadenocarcinoma(32;0.00261) Insulin Glargine recombinant(DB00047)|Insulin Lyspro recombinant(DB00046)|Insulin recombinant(DB00030)|Insulin, porcine(DB00071)|Mecasermin(DB01277) GTCGAAGAATCGCATCATCAT 0.512000 23 18 0 0 0.000566183 0 0 WBSCR17 64409 broad.mit.edu 37 7 71175764 71175764 + Missense_Mutation SNP G A A TCGA-BF-A1PZ-01A-11D-A19A-08 TCGA-BF-A1PZ-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6ef799ed-a9fa-4328-95d3-265699e16339 a8458b1d-3040-455b-ae7a-b1ac22b9f2b6 g.chr7:71175764G>A uc003tvy.3 + 9 1519 c.1519G>A c.(1519-1521)Gaa>Aaa p.E507K WBSCR17_uc003tvz.3_Missense_Mutation_p.E206K NM_022479 NP_071924 Q6IS24 GLTL3_HUMAN Homo sapiens Williams-Beuren syndrome chromosome region 17 (WBSCR17), mRNA. 507 Ricin B-type lectin. Golgi membrane|integral to membrane polypeptide N-acetylgalactosaminyltransferase activity|sugar binding NS(5)|breast(2)|central_nervous_system(1)|endometrium(7)|kidney(7)|large_intestine(22)|lung(45)|ovary(2)|pancreas(2)|prostate(1)|skin(4)|upper_aerodigestive_tract(2) 100 all_cancers(73;0.2)|Lung NSC(55;0.094)|all_lung(88;0.125) CTACACCAAGGAAGGCTTCCT 0.632000 21 36 0 0 0.000125731 0 0 ANKRD18A 253650 broad.mit.edu 37 9 38586238 38586238 + Missense_Mutation SNP C T T TCGA-BF-A1PZ-01A-11D-A19A-08 TCGA-BF-A1PZ-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6ef799ed-a9fa-4328-95d3-265699e16339 a8458b1d-3040-455b-ae7a-b1ac22b9f2b6 g.chr9:38586238C>T uc004abg.4 - 11 2267 c.2189G>A c.(2188-2190)gGa>gAa p.G730E ANKRD18A_uc004abf.1_Missense_Mutation_p.G407E NM_147195 NP_671728 Q8IVF6 AN18A_HUMAN Homo sapiens ankyrin repeat domain 18A (ANKRD18A), mRNA. 730 NS(1)|breast(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|lung(3)|prostate(1)|skin(2)|stomach(1) 16 ATTTAAGTCTCCATGGCAACT 0.284000 0 16 0 0 0.000175454 0 0 SEPP1 6414 broad.mit.edu 37 5 42808366 42808366 + Silent SNP T C C TCGA-BF-A1PZ-01A-11D-A19A-08 TCGA-BF-A1PZ-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6ef799ed-a9fa-4328-95d3-265699e16339 a8458b1d-3040-455b-ae7a-b1ac22b9f2b6 g.chr5:42808366T>C uc011cps.2 - 2 278 c.180A>G c.(178-180)caA>caG p.Q60Q SEPP1_uc011cpt.2_Silent_p.Q30Q|SEPP1_uc011cpu.2_Silent_p.Q30Q|SEPP1_uc003jna.3_Non-coding_Transcript NM_001093726 P49908 SEPP1_HUMAN Homo sapiens selenoprotein P, plasma, 1 (SEPP1), transcript variant 3, mRNA. 30 response to oxidative stress extracellular region selenium binding kidney(10)|large_intestine(1)|lung(4) 15 AGGCTGGGGGTTGCTTACATA 0.532000 4 32 0 0 0.000491102 0 0 ZFR 51663 broad.mit.edu 37 5 32397366 32397367 + Nonsense_Mutation DNP CC AA AA TCGA-BF-A1PZ-01A-11D-A19A-08 TCGA-BF-A1PZ-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6ef799ed-a9fa-4328-95d3-265699e16339 a8458b1d-3040-455b-ae7a-b1ac22b9f2b6 g.chr5:32397366_32397367CC>AA uc003jhr.1 - 9 1871_1872 c.1791_1792GG>TT c.(1789-1794)aaggag>aaTTag p.597_598KE>N* NM_016107 NP_057191 Q96KR1 ZFR_HUMAN Homo sapiens zinc finger RNA binding protein (ZFR), mRNA. 597 multicellular organismal development chromosome|cytoplasm|nucleus DNA binding|RNA binding|zinc ion binding breast(1)|endometrium(3)|kidney(3)|large_intestine(9)|lung(14)|upper_aerodigestive_tract(2) 32 STAD - Stomach adenocarcinoma(35;0.19) AAGTGCATCTCCTTAGCATTGG 0.337000 161 10 0 0 6.4e-05 0 0 GPR88 54112 broad.mit.edu 37 1 101004950 101004950 + Frame_Shift_Del DEL C - - TCGA-BF-A1PZ-01A-11D-A19A-08 TCGA-BF-A1PZ-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6ef799ed-a9fa-4328-95d3-265699e16339 a8458b1d-3040-455b-ae7a-b1ac22b9f2b6 g.chr1:101004950delC uc021oqq.1 + 0 428 c.428delC c.(427-429)accfs p.T143fs GPR88_uc001dth.3_Frame_Shift_Del_p.T143fs NM_022049 NP_071332 Q9GZN0 GPR88_HUMAN Homo sapiens G protein-coupled receptor 88 (GPR88), mRNA. 143 integral to membrane|plasma membrane G-protein coupled receptor activity large_intestine(2)|skin(1) 3 all_epithelial(167;1.19e-05)|all_lung(203;0.00159)|Lung NSC(277;0.00171) Epithelial(280;0.0372)|all cancers(265;0.0558)|COAD - Colon adenocarcinoma(174;0.141)|Colorectal(144;0.156)|Lung(183;0.189) CTGCTCATCACCCGGGCGCCC 0.721 --- 4 --- --- 2 --- RIT1 6016 broad.mit.edu 37 1 155870237 155870237 + Frame_Shift_Del DEL T - - TCGA-BF-A1PZ-01A-11D-A19A-08 TCGA-BF-A1PZ-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6ef799ed-a9fa-4328-95d3-265699e16339 a8458b1d-3040-455b-ae7a-b1ac22b9f2b6 g.chr1:155870237delT uc001fmh.1 - 5 789 c.602delA c.(601-603)aacfs p.N201fs RIT1_uc010pgr.1_Frame_Shift_Del_p.N165fs NM_006912 NP_008843 Q92963 RIT1_HUMAN Homo sapiens Ras-like without CAAX 1 (RIT1), mRNA. 201 nerve growth factor receptor signaling pathway|small GTPase mediated signal transduction intracellular|plasma membrane GTP binding|GTPase activity|calmodulin binding breast(1)|kidney(1)|large_intestine(3)|lung(12)|skin(1)|urinary_tract(1) 19 Hepatocellular(266;0.133)|all_hematologic(923;0.145)|all_neural(408;0.195) OV - Ovarian serous cystadenocarcinoma(3;1.79e-05) CCATACACTGTTTTTGGGCTT 0.413 --- 751 --- --- 7 --- SLC4A10 57282 broad.mit.edu 37 2 162807241 162807241 + Frame_Shift_Del DEL A - - TCGA-BF-A1PZ-01A-11D-A19A-08 TCGA-BF-A1PZ-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6ef799ed-a9fa-4328-95d3-265699e16339 a8458b1d-3040-455b-ae7a-b1ac22b9f2b6 g.chr2:162807241delA uc002ubx.4 + 18 2608 c.2424delA c.(2422-2424)ccafs p.P808fs SLC4A10_uc010zcs.2_Frame_Shift_Del_p.P789fs|SLC4A10_uc002uby.4_Frame_Shift_Del_p.P778fs NM_001178015 NP_001171486 Q6U841 S4A10_HUMAN Homo sapiens solute carrier family 4, sodium bicarbonate transporter, member 10 (SLC4A10), transcript variant 1, mRNA. 808 bicarbonate transport|chloride transport|sodium ion transport integral to membrane|plasma membrane inorganic anion exchanger activity|symporter activity endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|kidney(4)|large_intestine(9)|lung(35)|ovary(2)|pancreas(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 60 CTTTAGGTCCAAACCCATGGT 0.388 --- 4 --- --- 2 --- BAZ2A 11176 broad.mit.edu 37 12 57005698 57005698 + Frame_Shift_Del DEL A - - TCGA-BF-A1PZ-01A-11D-A19A-08 TCGA-BF-A1PZ-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6ef799ed-a9fa-4328-95d3-265699e16339 a8458b1d-3040-455b-ae7a-b1ac22b9f2b6 g.chr12:57005698delA uc001slq.1 - 5 1668 c.1474delT c.(1474-1476)tccfs p.S492fs BAZ2A_uc001slp.1_Frame_Shift_Del_p.S490fs|BAZ2A_uc009zow.1_Frame_Shift_Del_p.S460fs NM_013449 NP_038477 Q9UIF9 BAZ2A_HUMAN Homo sapiens bromodomain adjacent to zinc finger domain, 2A (BAZ2A), mRNA. 492 DNA methylation|chromatin silencing at rDNA|transcription, DNA-dependent chromatin silencing complex|nucleolus|rDNA heterochromatin DNA binding|RNA binding|histone acetyl-lysine binding|ligand-dependent nuclear receptor binding|zinc ion binding p.A492T(1) breast(1)|cervix(3)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|lung(15)|urinary_tract(1) 31 GCTTTTGGGGATGTCACTGAA 0.537 --- 9 --- --- 10 --- MYBBP1A 10514 broad.mit.edu 37 17 4453361 4453362 + In_Frame_Ins INS - GAT GAT TCGA-BF-A1PZ-01A-11D-A19A-08 TCGA-BF-A1PZ-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6ef799ed-a9fa-4328-95d3-265699e16339 a8458b1d-3040-455b-ae7a-b1ac22b9f2b6 g.chr17:4453361_4453362insGAT uc002fxz.4 - 8 1372_1373 c.1310_1311insATC c.(1309-1311)tcg>tcATCg p.437_437S>SS MYBBP1A_uc002fyb.4_In_Frame_Ins_p.437_437S>SS NM_001105538 NP_001099008 Q9BQG0 MBB1A_HUMAN Homo sapiens MYB binding protein (P160) 1a (MYBBP1A), transcript variant 1, mRNA. 437 Interaction with MYB (By similarity). nucleocytoplasmic transport|regulation of transcription, DNA-dependent|transcription, DNA-dependent NLS-dependent protein nuclear import complex|cytoplasm|nucleolus DNA binding|DNA-directed DNA polymerase activity|transcription factor binding breast(1)|endometrium(1)|kidney(1)|large_intestine(6)|lung(7)|ovary(3)|prostate(2)|skin(2)|stomach(1) 24 ACATGTGGAGCGATGAATCCTG 0.589 --- 86 --- --- 36 --- MEGF8 1954 broad.mit.edu 37 19 42862308 42862309 + Frame_Shift_Ins INS - CT CT TCGA-BF-A1PZ-01A-11D-A19A-08 TCGA-BF-A1PZ-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6ef799ed-a9fa-4328-95d3-265699e16339 a8458b1d-3040-455b-ae7a-b1ac22b9f2b6 g.chr19:42862308_42862309insCT uc002otl.4 + 27 5458_5459 c.4823_4824insCT c.(4822-4824)cacfs p.H1608fs MEGF8_uc002otm.4_Frame_Shift_Ins_p.H1216fs NM_001410 NP_001401 Q7Z7M0 MEGF8_HUMAN Homo sapiens multiple EGF-like-domains 8 (MEGF8), mRNA. 1675 integral to membrane calcium ion binding|structural molecule activity breast(2)|cervix(1)|endometrium(11)|kidney(2)|large_intestine(9)|lung(20)|ovary(2)|upper_aerodigestive_tract(2)|urinary_tract(1) 50 Prostate(69;0.00682) CTCTATGGTCACTCTGCTGTCT 0.653 --- 4 --- --- 2 --- ZNF841 284371 broad.mit.edu 37 19 52569243 52569243 + Frame_Shift_Del DEL C - - TCGA-BF-A1PZ-01A-11D-A19A-08 TCGA-BF-A1PZ-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6ef799ed-a9fa-4328-95d3-265699e16339 a8458b1d-3040-455b-ae7a-b1ac22b9f2b6 g.chr19:52569243delC uc010ydh.1 - 6 2352 c.1892delG c.(1891-1893)ggcfs p.G631fs ZNF841_uc002pyl.1_Frame_Shift_Del_p.G515fs NM_001136499 NP_001129971 Q6ZN19 ZN841_HUMAN Homo sapiens zinc finger protein 841 (ZNF841), mRNA. 515 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding breast(1)|endometrium(4)|kidney(3)|lung(3) 11 GAAGACCTTGCCGCATTCGTT 0.423 --- 131 --- --- 44 --- FAM116B 414918 broad.mit.edu 37 22 50754836 50754836 + Frame_Shift_Del DEL G - - rs146906468 by1000genomes TCGA-BF-A1PZ-01A-11D-A19A-08 TCGA-BF-A1PZ-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6ef799ed-a9fa-4328-95d3-265699e16339 a8458b1d-3040-455b-ae7a-b1ac22b9f2b6 g.chr22:50754836delG uc011arv.1 - 5 594 c.522delC c.(520-522)cccfs p.P174fs NM_001001794 NP_001001794 Q8NEG7 F116B_HUMAN Homo sapiens family with sequence similarity 116, member B (FAM116B), mRNA. 174 endometrium(1)|kidney(1)|lung(2)|skin(1) 5 all_cancers(38;4.34e-09)|all_epithelial(38;3.03e-08)|all_lung(38;0.00141)|Breast(42;0.00387)|Lung NSC(38;0.0199)|Ovarian(80;0.104)|Lung SC(80;0.162)|Hepatocellular(38;0.178) BRCA - Breast invasive adenocarcinoma(115;0.205)|LUAD - Lung adenocarcinoma(64;0.247) CAAAGTACTCGGGGGCGATGA 0.637 --- 4 --- --- 2 ---