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 PTCHD2 57540 broad.mit.edu 37 1 11562051 11562051 + Silent SNP G G A TCGA-19-2620-01A-01D-1495-08 TCGA-19-2620-10A-01D-1495-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6de41ac1-229b-40b9-a494-5588c284351d ede6d42c-895a-46f7-a0e3-11b152970581 g.chr1:11562051G>A uc001ash.4 + 1 1140 c.1002G>A c.(1000-1002)tcG>tcA p.S334S PTCHD2_uc001asi.1_Silent_p.S334S NM_020780 NP_065831 Q9P2K9 PTHD2_HUMAN Homo sapiens patched domain containing 2 (PTCHD2), mRNA. 334 cholesterol homeostasis|regulation of lipid transport|smoothened signaling pathway endoplasmic reticulum|integral to membrane|nuclear membrane hedgehog receptor activity NS(3)|breast(2)|endometrium(9)|kidney(4)|large_intestine(5)|lung(34)|ovary(3)|pancreas(1)|prostate(6)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(3) 76 Ovarian(185;0.249) Lung NSC(185;4.16e-05)|all_lung(284;4.76e-05)|Renal(390;0.000147)|Breast(348;0.00093)|Colorectal(325;0.00205)|Hepatocellular(190;0.00913)|Ovarian(437;0.00965)|Myeloproliferative disorder(586;0.0255) UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;3.13e-07)|COAD - Colon adenocarcinoma(227;4.83e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000325)|Kidney(185;0.000877)|KIRC - Kidney renal clear cell carcinoma(229;0.00273)|STAD - Stomach adenocarcinoma(313;0.00766)|READ - Rectum adenocarcinoma(331;0.0549) CCTACTGCTCGCCCCCCAGCT 0.627 LRRC8B 23507 broad.mit.edu 37 1 90048973 90048973 + Missense_Mutation SNP A A G TCGA-19-2620-01A-01D-1495-08 TCGA-19-2620-10A-01D-1495-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6de41ac1-229b-40b9-a494-5588c284351d ede6d42c-895a-46f7-a0e3-11b152970581 g.chr1:90048973A>G uc001dni.3 + 6 1271 c.764A>G c.(763-765)tAt>tGt p.Y255C LRRC8B_uc001dnh.3_Missense_Mutation_p.Y255C|LRRC8B_uc001dnj.3_Missense_Mutation_p.Y255C NM_001134476 NP_056165 Q6P9F7 LRC8B_HUMAN Homo sapiens leucine rich repeat containing 8 family, member B (LRRC8B), transcript variant 2, mRNA. 255 integral to membrane breast(1)|central_nervous_system(1)|endometrium(6)|kidney(5)|large_intestine(2)|lung(5)|ovary(2)|prostate(2)|skin(1)|urinary_tract(1) 26 all_lung(203;0.17) all cancers(265;0.00515)|Epithelial(280;0.0241) GACATCATTTATAGAGTATAT 0.383 GPR61 83873 broad.mit.edu 37 1 110086040 110086040 + Silent SNP G G A TCGA-19-2620-01A-01D-1495-08 TCGA-19-2620-10A-01D-1495-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6de41ac1-229b-40b9-a494-5588c284351d ede6d42c-895a-46f7-a0e3-11b152970581 g.chr1:110086040G>A uc021orh.1 + 0 396 c.396G>A c.(394-396)tcG>tcA p.S132S GPR61_uc001dxy.2_Silent_p.S132S NM_031936 NP_114142 Q9BZJ8 GPR61_HUMAN Homo sapiens G protein-coupled receptor 61 (GPR61), mRNA. 132 integral to membrane|plasma membrane G-protein coupled receptor activity breast(1)|central_nervous_system(2)|endometrium(4)|kidney(1)|large_intestine(4)|lung(9)|stomach(1)|urinary_tract(1) 23 all_epithelial(167;2.83e-05)|all_lung(203;0.00016)|Lung NSC(277;0.000318)|Breast(1374;0.244) Lung(183;0.0426)|Colorectal(144;0.11)|Epithelial(280;0.128)|all cancers(265;0.132)|LUSC - Lung squamous cell carcinoma(189;0.228) CCATCCTCTCGGTGTCAGCCA 0.607 TTF2 8458 broad.mit.edu 37 1 117618058 117618058 + Silent SNP G G A TCGA-19-2620-01A-01D-1495-08 TCGA-19-2620-10A-01D-1495-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6de41ac1-229b-40b9-a494-5588c284351d ede6d42c-895a-46f7-a0e3-11b152970581 g.chr1:117618058G>A uc001egy.3 + 4 872 c.852G>A c.(850-852)gaG>gaA p.E284E TTF2_uc001egx.1_Silent_p.E284E NM_003594 NP_003585 Q9UNY4 TTF2_HUMAN Homo sapiens transcription termination factor, RNA polymerase II (TTF2), mRNA. 284 mRNA processing|regulation of transcription, DNA-dependent|RNA splicing|termination of RNA polymerase II transcription cytoplasm|spliceosomal complex|transcription elongation factor complex ATP binding|ATP-dependent helicase activity|DNA binding|DNA-dependent ATPase activity|protein binding|zinc ion binding NS(1)|autonomic_ganglia(1)|breast(1)|cervix(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|liver(1)|lung(24)|ovary(1)|prostate(2)|skin(2)|urinary_tract(2) 50 Lung SC(450;0.225) all_cancers(81;4.23e-06)|all_epithelial(167;3.65e-07)|all_lung(203;2.81e-06)|Lung NSC(69;1.98e-05) Lung(183;0.0553)|Colorectal(144;0.179)|LUSC - Lung squamous cell carcinoma(189;0.19) TCAACAAGGAGTACACGAACT 0.522 FLG 2312 broad.mit.edu 37 1 152283519 152283519 + Silent SNP G G A TCGA-19-2620-01A-01D-1495-08 TCGA-19-2620-10A-01D-1495-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6de41ac1-229b-40b9-a494-5588c284351d ede6d42c-895a-46f7-a0e3-11b152970581 g.chr1:152283519G>A uc001ezu.1 - 2 3879 c.3843C>T c.(3841-3843)gaC>gaT p.D1281D AK056431_uc001ezv.3_5'Flank NM_002016 NP_002007 P20930 FILA_HUMAN Homo sapiens filaggrin (FLG), mRNA. 1281 Ser-rich. keratinocyte differentiation cytoplasmic membrane-bounded vesicle|intermediate filament calcium ion binding|structural molecule activity autonomic_ganglia(1)|breast(13)|central_nervous_system(5)|cervix(2)|endometrium(38)|haematopoietic_and_lymphoid_tissue(1)|kidney(16)|large_intestine(57)|lung(211)|ovary(13)|pancreas(1)|prostate(15)|skin(24)|stomach(5)|upper_aerodigestive_tract(10)|urinary_tract(12) 424 Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127) LUSC - Lung squamous cell carcinoma(543;0.206) TCTCGGAGTCGTCTGAGTGTC 0.552 Ichthyosis HMCN1 83872 broad.mit.edu 37 1 186050515 186050515 + Nonsense_Mutation SNP C C T rs142475663 TCGA-19-2620-01A-01D-1495-08 TCGA-19-2620-10A-01D-1495-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6de41ac1-229b-40b9-a494-5588c284351d ede6d42c-895a-46f7-a0e3-11b152970581 g.chr1:186050515C>T uc001grq.1 + 55 9005 c.8776C>T c.(8776-8778)Cga>Tga p.R2926* MIR548F1_uc021pgf.1_Intron NM_031935 NP_114141 Q96RW7 HMCN1_HUMAN Homo sapiens hemicentin 1 (HMCN1), mRNA. 2926 Ig-like C2-type 27. response to stimulus|visual perception basement membrane calcium ion binding p.R2926Q(1) NS(2)|autonomic_ganglia(1)|breast(10)|central_nervous_system(2)|cervix(1)|endometrium(28)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(58)|liver(3)|lung(101)|ovary(23)|pancreas(4)|prostate(20)|skin(8)|stomach(1)|upper_aerodigestive_tract(11)|urinary_tract(18) 308 ATCTAATGGACGAATTCTGCA 0.338 HMCN1 83872 broad.mit.edu 37 1 186083185 186083185 + Missense_Mutation SNP G G A rs138190200 byFrequency TCGA-19-2620-01A-01D-1495-08 TCGA-19-2620-10A-01D-1495-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6de41ac1-229b-40b9-a494-5588c284351d ede6d42c-895a-46f7-a0e3-11b152970581 g.chr1:186083185G>A uc001grq.1 + 72 11435 c.11206G>A c.(11206-11208)Gct>Act p.A3736T MIR548F1_uc021pgf.1_Intron NM_031935 NP_114141 Q96RW7 HMCN1_HUMAN Homo sapiens hemicentin 1 (HMCN1), mRNA. 3736 Ig-like C2-type 36. response to stimulus|visual perception basement membrane calcium ion binding p.A3736T(2) NS(2)|autonomic_ganglia(1)|breast(10)|central_nervous_system(2)|cervix(1)|endometrium(28)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(58)|liver(3)|lung(101)|ovary(23)|pancreas(4)|prostate(20)|skin(8)|stomach(1)|upper_aerodigestive_tract(11)|urinary_tract(18) 308 GGAATGCATCGCTGAAGGTGT 0.408 NUAK2 81788 broad.mit.edu 37 1 205280831 205280831 + Splice_Site SNP A A G TCGA-19-2620-01A-01D-1495-08 TCGA-19-2620-10A-01D-1495-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6de41ac1-229b-40b9-a494-5588c284351d ede6d42c-895a-46f7-a0e3-11b152970581 g.chr1:205280831A>G uc001hce.3 - 2 479 c.352_splice c.e2+1 p.V118_splice NUAK2_uc009xbj.1_5'Flank NM_030952 NP_112214 Q9H093 NUAK2_HUMAN Homo sapiens NUAK family, SNF1-like kinase, 2 (NUAK2), mRNA. 118 Protein kinase. actin cytoskeleton organization|apoptosis|cellular response to glucose starvation|negative regulation of apoptosis ATP binding|magnesium ion binding|protein serine/threonine kinase activity breast(3)|kidney(3)|large_intestine(4)|lung(4)|ovary(3)|prostate(3)|skin(1)|stomach(1)|urinary_tract(1) 23 Breast(84;0.186) BRCA - Breast invasive adenocarcinoma(75;0.117) TGCCCACTGTACCTTCATGGA 0.438 TRAF3IP3 80342 broad.mit.edu 37 1 209954760 209954760 + Missense_Mutation SNP A A T TCGA-19-2620-01A-01D-1495-08 TCGA-19-2620-10A-01D-1495-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6de41ac1-229b-40b9-a494-5588c284351d ede6d42c-895a-46f7-a0e3-11b152970581 g.chr1:209954760A>T uc001hho.3 + 15 1940 c.1520A>T c.(1519-1521)cAc>cTc p.H507L TRAF3IP3_uc001hhn.3_Missense_Mutation_p.H487L|TRAF3IP3_uc009xcr.3_Missense_Mutation_p.H507L NM_025228 NP_079504 Q9Y228 T3JAM_HUMAN Homo sapiens TRAF3 interacting protein 3 (TRAF3IP3), mRNA. 507 integral to membrane protein binding p.R506*(1) breast(2)|endometrium(1)|large_intestine(8)|lung(15)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1) 32 OV - Ovarian serous cystadenocarcinoma(81;0.045) AAGCTGCAGCACTGTCGAGAA 0.512 AS3MT 57412 broad.mit.edu 37 10 104638210 104638210 + Missense_Mutation SNP C C T TCGA-19-2620-01A-01D-1495-08 TCGA-19-2620-10A-01D-1495-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6de41ac1-229b-40b9-a494-5588c284351d ede6d42c-895a-46f7-a0e3-11b152970581 g.chr10:104638210C>T uc001kwj.3 + 11 1090 c.691C>T c.(691-693)Cgt>Tgt p.R231C AS3MT_uc009xxh.3_Missense_Mutation_p.R229C|AS3MT_uc001kwk.3_Missense_Mutation_p.R229C NM_020682 NP_065733 Q9HBK9 AS3MT_HUMAN Homo sapiens arsenic (+3 oxidation state) methyltransferase (AS3MT), mRNA. 229 arsonoacetate metabolic process|toxin metabolic process cytosol arsenite methyltransferase activity|methylarsonite methyltransferase activity large_intestine(1)|lung(6) 7 Colorectal(252;0.122)|all_hematologic(284;0.152)|Breast(234;0.198) Epithelial(162;5.87e-09)|all cancers(201;1.58e-07)|BRCA - Breast invasive adenocarcinoma(275;0.223) CTGCCCTCCACGTTTGGTCAC 0.408 OR52I1 390037 broad.mit.edu 37 11 4616048 4616048 + Frame_Shift_Del DEL G G - TCGA-19-2620-01A-01D-1495-08 TCGA-19-2620-10A-01D-1495-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6de41ac1-229b-40b9-a494-5588c284351d ede6d42c-895a-46f7-a0e3-11b152970581 g.chr11:4616048delG uc010qyi.2 + 0 780 c.780delG c.(778-780)atgfs p.M260fs NM_001005169 NP_001005169 Q8NGK6 O52I1_HUMAN Homo sapiens olfactory receptor, family 52, subfamily I, member 1 (OR52I1), mRNA. 260 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity central_nervous_system(2)|endometrium(2)|kidney(1)|large_intestine(3)|lung(6)|ovary(1) 15 Medulloblastoma(188;0.0075)|Breast(177;0.0461)|all_neural(188;0.0577) Epithelial(150;7.98e-12)|BRCA - Breast invasive adenocarcinoma(625;0.0284)|LUSC - Lung squamous cell carcinoma(625;0.19) TACCTGGGATGGCATCCATCT 0.507 OR5D18 219438 broad.mit.edu 37 11 55587445 55587445 + Missense_Mutation SNP T T A TCGA-19-2620-01A-01D-1495-08 TCGA-19-2620-10A-01D-1495-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6de41ac1-229b-40b9-a494-5588c284351d ede6d42c-895a-46f7-a0e3-11b152970581 g.chr11:55587445T>A uc010rin.2 + 0 340 c.340T>A c.(340-342)Ttt>Att p.F114I NM_001001952 NP_001001952 Q8NGL1 OR5DI_HUMAN Homo sapiens olfactory receptor, family 5, subfamily D, member 18 (OR5D18), mRNA. 114 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity p.S113F(1)|p.F114F(1) NS(2)|breast(1)|endometrium(3)|large_intestine(6)|lung(33)|ovary(1)|prostate(3)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 55 all_epithelial(135;0.208) CACTGAATCCTTTTTATTAGC 0.433 ACRV1 56 broad.mit.edu 37 11 125542539 125542539 + Silent SNP C C T TCGA-19-2620-01A-01D-1495-08 TCGA-19-2620-10A-01D-1495-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6de41ac1-229b-40b9-a494-5588c284351d ede6d42c-895a-46f7-a0e3-11b152970581 g.chr11:125542539C>T uc001qcs.3 - 3 865 c.747G>A c.(745-747)acG>acA p.T249T CHEK1_uc001qcf.4_Intron|ACRV1_uc001qcl.3_Silent_p.T179T|ACRV1_uc001qcn.3_Silent_p.T194T|ACRV1_uc001qcr.3_Silent_p.T230T NM_001612 NP_001603 P26436 ASPX_HUMAN Homo sapiens acrosomal vesicle protein 1 (ACRV1), transcript variant 1, mRNA. 249 multicellular organismal development acrosomal vesicle kidney(1)|large_intestine(3)|lung(2) 6 all_hematologic(175;0.177) Breast(109;0.0021)|all_lung(97;0.0179)|Lung NSC(97;0.0185)|Medulloblastoma(222;0.0425)|all_neural(223;0.112) BRCA - Breast invasive adenocarcinoma(274;1.1e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0713) TTTGCATCCTCGTTCCATGGG 0.448 ADAMTS20 80070 broad.mit.edu 37 12 43833726 43833726 + Nonsense_Mutation SNP G G A TCGA-19-2620-01A-01D-1495-08 TCGA-19-2620-10A-01D-1495-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6de41ac1-229b-40b9-a494-5588c284351d ede6d42c-895a-46f7-a0e3-11b152970581 g.chr12:43833726G>A uc010skx.2 - 16 2437 c.2437C>T c.(2437-2439)Cga>Tga p.R813* ADAMTS20_uc001rno.1_5'Flank|ADAMTS20_uc001rnp.1_5'Flank NM_025003 NP_079279 P59510 ATS20_HUMAN Homo sapiens ADAM metallopeptidase with thrombospondin type 1 motif, 20 (ADAMTS20), mRNA. 813 Spacer. proteinaceous extracellular matrix zinc ion binding p.R813*(1) breast(1)|central_nervous_system(6)|endometrium(3)|kidney(4)|large_intestine(11)|liver(1)|lung(43)|ovary(4)|pancreas(3)|prostate(5)|skin(12)|upper_aerodigestive_tract(1)|urinary_tract(1) 95 all_cancers(12;2.6e-05)|Lung SC(27;0.184) Lung NSC(34;0.0569)|all_lung(34;0.129) GBM - Glioblastoma multiforme(48;0.0473) TTCTCTTGTCGATTAGTACTA 0.299 H1FNT 341567 broad.mit.edu 37 12 48723149 48723149 + Silent SNP G G A TCGA-19-2620-01A-01D-1495-08 TCGA-19-2620-10A-01D-1495-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6de41ac1-229b-40b9-a494-5588c284351d ede6d42c-895a-46f7-a0e3-11b152970581 g.chr12:48723149G>A uc001rrm.3 + 0 387 c.75G>A c.(73-75)gcG>gcA p.A25A NM_181788 NP_861453 Q75WM6 H1FNT_HUMAN Homo sapiens H1 histone family, member N, testis-specific (H1FNT), mRNA. 25 chromosome condensation|multicellular organismal development|sperm chromatin condensation|spermatid nucleus elongation nuclear chromatin ATP binding|DNA binding endometrium(1)|large_intestine(2)|lung(4)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|stomach(1) 13 TGGCTGAGGCGCCTGGGCCCA 0.657 B4GALNT1 2583 broad.mit.edu 37 12 58022670 58022670 + Silent SNP G G A TCGA-19-2620-01A-01D-1495-08 TCGA-19-2620-10A-01D-1495-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6de41ac1-229b-40b9-a494-5588c284351d ede6d42c-895a-46f7-a0e3-11b152970581 g.chr12:58022670G>A uc001spg.1 - 7 1260 c.828C>T c.(826-828)agC>agT p.S276S B4GALNT1_uc010sru.2_Silent_p.S221S|B4GALNT1_uc010srv.2_Silent_p.S243S NM_001478 NP_001469 Q00973 B4GN1_HUMAN Homo sapiens beta-1,4-N-acetyl-galactosaminyl transferase 1 (B4GALNT1), mRNA. 276 lipid glycosylation integral to Golgi membrane|membrane fraction (N-acetylneuraminyl)-galactosylglucosylceramide N-acetylgalactosaminyltransferase activity breast(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(4)|lung(6)|prostate(1)|stomach(1)|urinary_tract(1) 20 Melanoma(17;0.122) BRCA - Breast invasive adenocarcinoma(9;0.109) TGACTAGAGCGCTGATGTTGT 0.577 PTPN11 5781 broad.mit.edu 37 12 112926910 112926910 + Missense_Mutation SNP G G C TCGA-19-2620-01A-01D-1495-08 TCGA-19-2620-10A-01D-1495-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6de41ac1-229b-40b9-a494-5588c284351d ede6d42c-895a-46f7-a0e3-11b152970581 g.chr12:112926910G>C uc001ttx.3 + 12 1910 c.1530G>C c.(1528-1530)caG>caC p.Q510H NM_002834 NP_002825 Q06124 PTN11_HUMAN Homo sapiens protein tyrosine phosphatase, non-receptor type 11 (PTPN11), mRNA. 514 Tyrosine-protein phosphatase. Q -> P (in LEOPARD1).|Q -> R (in NS1). axon guidance|cell junction assembly|ephrin receptor signaling pathway|epidermal growth factor receptor signaling pathway|fibroblast growth factor receptor signaling pathway|insulin receptor signaling pathway|interferon-gamma-mediated signaling pathway|leukocyte migration|platelet activation|regulation of cell adhesion mediated by integrin|regulation of interferon-gamma-mediated signaling pathway|regulation of type I interferon-mediated signaling pathway|T cell costimulation|type I interferon-mediated signaling pathway cytosol non-membrane spanning protein tyrosine phosphatase activity|protein binding p.Q510K(2)|p.Q510H(1)|p.Q510L(1) NS(1)|autonomic_ganglia(2)|breast(1)|central_nervous_system(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(406)|kidney(2)|large_intestine(6)|lung(16)|ovary(1)|skin(1)|soft_tissue(3)|stomach(3) 451 CAGAAGCACAGTACCGATTTA 0.493 Mis """JMML, AML, MDS""" Noonan Syndrome Noonan syndrome C12orf52 84934 broad.mit.edu 37 12 113629392 113629392 + Silent SNP C C T TCGA-19-2620-01A-01D-1495-08 TCGA-19-2620-10A-01D-1495-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6de41ac1-229b-40b9-a494-5588c284351d ede6d42c-895a-46f7-a0e3-11b152970581 g.chr12:113629392C>T uc001tur.1 + 3 1048 c.580C>T c.(580-582)Ctg>Ttg p.L194L NM_032848 NP_116237 Q96K30 RITA_HUMAN Homo sapiens chromosome 12 open reading frame 52 (C12orf52), mRNA. 194 Interaction with tubulin. negative regulation of Notch signaling pathway|negative regulation of transcription from RNA polymerase II promoter|neurogenesis|Notch signaling pathway|nuclear export centrosome|nucleus tubulin binding large_intestine(2)|lung(1)|prostate(1)|urinary_tract(1) 5 TTCACGCCCCCTGAAGCGGGG 0.607 DNAH10 196385 broad.mit.edu 37 12 124393905 124393905 + Missense_Mutation SNP G G A TCGA-19-2620-01A-01D-1495-08 TCGA-19-2620-10A-01D-1495-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6de41ac1-229b-40b9-a494-5588c284351d ede6d42c-895a-46f7-a0e3-11b152970581 g.chr12:124393905G>A uc001uft.4 + 56 9584 c.9559G>A c.(9559-9561)Gtg>Atg p.V3187M NM_207437 NP_997320 Q8IVF4 DYH10_HUMAN Homo sapiens dynein, axonemal, heavy chain 10 (DNAH10), mRNA. 3187 Stalk (By similarity). microtubule-based movement cilium axoneme|cytoplasm|dynein complex|microtubule ATP binding|ATPase activity|microtubule motor activity breast(1)|central_nervous_system(1)|cervix(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|lung(14)|ovary(4)|prostate(2)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(1) 52 all_neural(191;0.101)|Medulloblastoma(191;0.163) OV - Ovarian serous cystadenocarcinoma(86;0.000207)|Epithelial(86;0.000556)|all cancers(50;0.00346) AGCCAAGGGCGTGATGTCCGA 0.502 GPR133 283383 broad.mit.edu 37 12 131475583 131475583 + Missense_Mutation SNP C C T TCGA-19-2620-01A-01D-1495-08 TCGA-19-2620-10A-01D-1495-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6de41ac1-229b-40b9-a494-5588c284351d ede6d42c-895a-46f7-a0e3-11b152970581 g.chr12:131475583C>T uc010tbm.2 + 7 1425 c.866C>T c.(865-867)aCg>aTg p.T289M GPR133_uc001uit.4_Missense_Mutation_p.T257M NM_198827 NP_942122 Q6QNK2 GP133_HUMAN Homo sapiens G protein-coupled receptor 133 (GPR133), mRNA. 257 neuropeptide signaling pathway integral to membrane|plasma membrane G-protein coupled receptor activity NS(2)|breast(2)|endometrium(6)|kidney(1)|large_intestine(12)|lung(20)|ovary(3)|pancreas(6)|prostate(6)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(4) 67 all_neural(191;0.0982)|Medulloblastoma(191;0.163) OV - Ovarian serous cystadenocarcinoma(86;1.68e-06)|all cancers(50;2.71e-06)|Epithelial(86;6.75e-06) TTGTCTTCAACGCTGCCAAGC 0.478 MDGA2 161357 broad.mit.edu 37 14 47389235 47389235 + Missense_Mutation SNP A A G TCGA-19-2620-01A-01D-1495-08 TCGA-19-2620-10A-01D-1495-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6de41ac1-229b-40b9-a494-5588c284351d ede6d42c-895a-46f7-a0e3-11b152970581 g.chr14:47389235A>G uc001wwj.4 - 9 2376 c.2218T>C c.(2218-2220)Tac>Cac p.Y740H MDGA2_uc001wwi.4_Missense_Mutation_p.Y442H|MDGA2_uc010ani.3_Missense_Mutation_p.Y231H NM_001113498 NP_878250 Q7Z553 MDGA2_HUMAN Homo sapiens MAM domain containing glycosylphosphatidylinositol anchor 2 (MDGA2), transcript variant 1, mRNA. 671 spinal cord motor neuron differentiation anchored to membrane|plasma membrane breast(3)|endometrium(4)|kidney(2)|large_intestine(14)|lung(41)|ovary(4)|pancreas(1)|prostate(1)|stomach(1)|upper_aerodigestive_tract(5) 76 CCCAACCGGTATGCAACAATC 0.423 SYNE2 23224 broad.mit.edu 37 14 64686074 64686074 + Missense_Mutation SNP G G A TCGA-19-2620-01A-01D-1495-08 TCGA-19-2620-10A-01D-1495-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6de41ac1-229b-40b9-a494-5588c284351d ede6d42c-895a-46f7-a0e3-11b152970581 g.chr14:64686074G>A uc001xgl.3 + 109 20036 c.19806G>A c.(19804-19806)atG>atA p.M6602I SYNE2_uc001xgm.3_Missense_Mutation_p.M6579I|SYNE2_uc010apy.3_Missense_Mutation_p.M2964I|SYNE2_uc001xgn.3_Missense_Mutation_p.M1541I|SYNE2_uc021rui.1_Missense_Mutation_p.M1540I|SYNE2_uc001xgo.3_Non-coding_Transcript|SYNE2_uc010aqa.3_Missense_Mutation_p.M549I|SYNE2_uc001xgq.3_Missense_Mutation_p.M944I|SYNE2_uc001xgr.3_Missense_Mutation_p.M362I|SYNE2_uc010tsi.2_Missense_Mutation_p.M236I|SYNE2_uc001xgs.3_Missense_Mutation_p.M236I|SYNE2_uc001xgt.3_Missense_Mutation_p.M110I NM_182914 NP_878918 Q8WXH0 SYNE2_HUMAN Homo sapiens spectrin repeat containing, nuclear envelope 2 (SYNE2), transcript variant 5, mRNA. 6579 centrosome localization|cytoskeletal anchoring at nuclear membrane|nuclear migration along microfilament|positive regulation of cell migration cytoskeleton|filopodium membrane|focal adhesion|integral to membrane|lamellipodium membrane|mitochondrial part|nuclear outer membrane|nucleoplasm|sarcoplasmic reticulum membrane|SUN-KASH complex|Z disc actin binding|protein binding NS(5)|breast(17)|central_nervous_system(3)|cervix(8)|endometrium(17)|haematopoietic_and_lymphoid_tissue(2)|kidney(21)|large_intestine(34)|lung(75)|ovary(10)|pancreas(2)|prostate(8)|skin(8)|stomach(1)|upper_aerodigestive_tract(9)|urinary_tract(4) 224 all cancers(60;0.00153)|OV - Ovarian serous cystadenocarcinoma(108;0.00444)|BRCA - Breast invasive adenocarcinoma(234;0.0681) TGTTAAAGATGGCAAAGCCTC 0.433 LTBP2 4053 broad.mit.edu 37 14 75078500 75078500 + Missense_Mutation SNP C C T TCGA-19-2620-01A-01D-1495-08 TCGA-19-2620-10A-01D-1495-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6de41ac1-229b-40b9-a494-5588c284351d ede6d42c-895a-46f7-a0e3-11b152970581 g.chr14:75078500C>T uc001xqa.3 - 0 535 c.148G>A c.(148-150)Gcg>Acg p.A50T NM_000428 NP_000419 Q14767 LTBP2_HUMAN Homo sapiens latent transforming growth factor beta binding protein 2 (LTBP2), mRNA. 50 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) AGTCGATTCGCGTCTCCACCA 0.692 AK7 122481 broad.mit.edu 37 14 96875256 96875256 + Missense_Mutation SNP C C T TCGA-19-2620-01A-01D-1495-08 TCGA-19-2620-10A-01D-1495-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6de41ac1-229b-40b9-a494-5588c284351d ede6d42c-895a-46f7-a0e3-11b152970581 g.chr14:96875256C>T uc001yfn.2 + 3 520 c.476C>T c.(475-477)gCg>gTg p.A159V NM_152327 NP_689540 Q96M32 KAD7_HUMAN Homo sapiens adenylate kinase 7 (AK7), mRNA. 159 cell projection organization cytosol adenylate kinase activity|ATP binding|cytidylate kinase activity p.W158R(1) breast(2)|cervix(2)|endometrium(3)|large_intestine(8)|lung(11)|ovary(1)|prostate(2)|skin(1)|urinary_tract(1) 31 all_cancers(154;0.0482)|all_epithelial(191;0.128)|Melanoma(154;0.155) Epithelial(152;0.134)|COAD - Colon adenocarcinoma(157;0.228) ATGACTTGGGCGCGCTCCAAA 0.473 PACS2 23241 broad.mit.edu 37 14 105859121 105859121 + Silent SNP C C G TCGA-19-2620-01A-01D-1495-08 TCGA-19-2620-10A-01D-1495-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6de41ac1-229b-40b9-a494-5588c284351d ede6d42c-895a-46f7-a0e3-11b152970581 g.chr14:105859121C>G uc001yqu.3 + 22 2925 c.2421C>G c.(2419-2421)ggC>ggG p.G807G PACS2_uc001yqs.2_Silent_p.G717G|PACS2_uc001yqt.3_Silent_p.G792G|PACS2_uc001yqv.3_Silent_p.G796G NM_001100913 NP_001094383 Q86VP3 PACS2_HUMAN Homo sapiens phosphofurin acidic cluster sorting protein 2 (PACS2), transcript variant 1, mRNA. 792 apoptosis|interspecies interaction between organisms endoplasmic reticulum lumen|mitochondrion endometrium(2)|kidney(2)|lung(7)|ovary(3)|pancreas(1)|prostate(2)|skin(3)|urinary_tract(1) 21 all_cancers(154;0.0351)|all_epithelial(191;0.153)|Melanoma(154;0.155) OV - Ovarian serous cystadenocarcinoma(23;0.0145)|Epithelial(46;0.036) Epithelial(152;0.138) CCAGCAGCGGCGAGGCTGCAG 0.612 TRPM1 4308 broad.mit.edu 37 15 31295059 31295059 + Missense_Mutation SNP G G A TCGA-19-2620-01A-01D-1495-08 TCGA-19-2620-10A-01D-1495-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6de41ac1-229b-40b9-a494-5588c284351d ede6d42c-895a-46f7-a0e3-11b152970581 g.chr15:31295059G>A uc021sia.1 - 26 4209 c.3895C>T c.(3895-3897)Cgg>Tgg p.R1299W TRPM1_uc010azy.3_Missense_Mutation_p.R1167W|TRPM1_uc001zfl.3_Non-coding_Transcript|TRPM1_uc021shz.1_Missense_Mutation_p.R1282W|TRPM1_uc001zfm.3_Missense_Mutation_p.R1260W NM_001252020 NP_001238949 Q7Z4N2 TRPM1_HUMAN Homo sapiens transient receptor potential cation channel, subfamily M, member 1 (TRPM1), transcript variant 1, mRNA. 1260 cellular response to light stimulus|visual perception integral to plasma membrane calcium channel activity|receptor activity p.R1260W(1) NS(2)|breast(3)|central_nervous_system(3)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(15)|lung(48)|ovary(2)|pancreas(1)|prostate(3)|skin(2)|soft_tissue(1)|upper_aerodigestive_tract(3) 99 all_lung(180;1.92e-11) all cancers(64;3.52e-16)|Epithelial(43;1.65e-11)|GBM - Glioblastoma multiforme(186;3.57e-05)|BRCA - Breast invasive adenocarcinoma(123;0.00533)|COAD - Colon adenocarcinoma(236;0.0609)|Lung(196;0.199) CTGCTTTGCCGGAGAAGATAC 0.473 DNM1P47 100216544 broad.mit.edu 37 15 102292785 102292785 + Missense_Mutation SNP C C G rs61084368 TCGA-19-2620-01A-01D-1495-08 TCGA-19-2620-10A-01D-1495-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6de41ac1-229b-40b9-a494-5588c284351d ede6d42c-895a-46f7-a0e3-11b152970581 g.chr15:102292785C>G uc010usj.2 + 3 432 c.373C>G c.(373-375)Cag>Gag p.Q125E DQ593624_uc002bxp.4_5'Flank|DQ576888_uc021sxy.1_5'Flank|DQ596486_uc002bxz.4_5'Flank|DQ582294_uc021syc.1_5'Flank|DQ595661_uc021sye.1_5'Flank|DQ588439_uc002byd.3_5'Flank|DQ593353_uc002bye.3_5'Flank|DQ597703_uc002byf.1_5'Flank|DQ585237_uc002byg.3_5'Flank|DQ588452_uc021syg.1_5'Flank|DQ586526_uc002byi.3_5'Flank|DQ588428_uc002byk.3_5'Flank|DQ597703_uc002bym.3_5'Flank|DQ571896_uc010usm.2_5'Flank|DQ586526_uc021syh.1_5'Flank|DQ588425_uc002byr.3_5'Flank Homo sapiens cDNA clone IMAGE:40009338. p.Q125E(1) TGCTGCTTCTCAGAGCTGCTG 0.602 FBXL16 146330 broad.mit.edu 37 16 745854 745854 + Missense_Mutation SNP C C T TCGA-19-2620-01A-01D-1495-08 TCGA-19-2620-10A-01D-1495-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6de41ac1-229b-40b9-a494-5588c284351d ede6d42c-895a-46f7-a0e3-11b152970581 g.chr16:745854C>T uc021taa.1 - 2 1031 c.703G>A c.(703-705)Ggg>Agg p.G235R FBXL16_uc002cja.3_5'Flank|FBXL16_uc002cjb.3_Missense_Mutation_p.G23R NM_153350 NP_699181 Q8N461 FXL16_HUMAN Homo sapiens F-box and leucine-rich repeat protein 16 (FBXL16), mRNA. 235 endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|lung(3)|ovary(1) 10 Hepatocellular(780;0.0218) GACCACAGCCCGGCCTCGGTG 0.672 CHTF18 63922 broad.mit.edu 37 16 839297 839297 + Missense_Mutation SNP C C G TCGA-19-2620-01A-01D-1495-08 TCGA-19-2620-10A-01D-1495-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6de41ac1-229b-40b9-a494-5588c284351d ede6d42c-895a-46f7-a0e3-11b152970581 g.chr16:839297C>G uc002ckf.4 + 1 521 c.458C>G c.(457-459)tCc>tGc p.S153C RPUSD1_uc002cka.3_5'Flank|RPUSD1_uc002ckb.3_5'Flank|CHTF18_uc010uus.1_Missense_Mutation_p.S125C|CHTF18_uc010bre.1_Non-coding_Transcript|CHTF18_uc002cke.4_Missense_Mutation_p.S125C|CHTF18_uc010brf.3_5'UTR|CHTF18_uc002ckg.4_Intron NM_022092 NP_071375 Q8WVB6 CTF18_HUMAN Homo sapiens CTF18, chromosome transmission fidelity factor 18 homolog (S. cerevisiae) (CHTF18), mRNA. 125 cell cycle|DNA replication nucleus ATP binding|DNA binding|nucleoside-triphosphatase activity endometrium(1)|kidney(3)|liver(2)|lung(4)|prostate(1) 11 Hepatocellular(780;0.00335) CCTCCCGACTCCTCGCCGACG 0.662 GP2 2813 broad.mit.edu 37 16 20328646 20328646 + Silent SNP G G T TCGA-19-2620-01A-01D-1495-08 TCGA-19-2620-10A-01D-1495-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6de41ac1-229b-40b9-a494-5588c284351d ede6d42c-895a-46f7-a0e3-11b152970581 g.chr16:20328646G>T uc002dgv.3 - 8 1397 c.1314C>A c.(1312-1314)tcC>tcA p.S438S GP2_uc002dgw.3_Silent_p.S435S|GP2_uc002dgx.3_Silent_p.S291S|GP2_uc002dgy.3_Silent_p.S288S NM_001007240 NP_001007241 P55259 GP2_HUMAN Homo sapiens glycoprotein 2 (zymogen granule membrane) (GP2), transcript variant 1, mRNA. 438 ZP. anchored to membrane|extracellular region|plasma membrane breast(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(25)|ovary(3)|prostate(3)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1) 48 GGCTTTCCGAGGACTGCCCAT 0.468 DNAH3 55567 broad.mit.edu 37 16 21053361 21053361 + Silent SNP G G A rs150869091 byFrequency TCGA-19-2620-01A-01D-1495-08 TCGA-19-2620-10A-01D-1495-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6de41ac1-229b-40b9-a494-5588c284351d ede6d42c-895a-46f7-a0e3-11b152970581 g.chr16:21053361G>A uc010vbe.2 - 31 4626 c.4626C>T c.(4624-4626)ccC>ccT p.P1542P NM_017539 NP_060009 Q8TD57 DYH3_HUMAN Homo sapiens dynein, axonemal, heavy chain 3 (DNAH3), mRNA. 1542 AAA 1 (By similarity). ciliary or flagellar motility|microtubule-based movement axonemal dynein complex|cilium axoneme|cytoplasm|microtubule ATP binding|microtubule motor activity NS(3)|autonomic_ganglia(1)|breast(12)|central_nervous_system(3)|cervix(2)|endometrium(15)|haematopoietic_and_lymphoid_tissue(4)|kidney(10)|large_intestine(42)|liver(2)|lung(57)|ovary(14)|pancreas(1)|prostate(7)|skin(11)|stomach(5)|upper_aerodigestive_tract(7)|urinary_tract(6) 202 GBM - Glioblastoma multiforme(48;0.207) TGAGATTGTCGGGCAGTTCAG 0.512 ZNF423 23090 broad.mit.edu 37 16 49671646 49671646 + Missense_Mutation SNP G G C TCGA-19-2620-01A-01D-1495-08 TCGA-19-2620-10A-01D-1495-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6de41ac1-229b-40b9-a494-5588c284351d ede6d42c-895a-46f7-a0e3-11b152970581 g.chr16:49671646G>C uc002efs.3 - 4 1715 c.1417C>G c.(1417-1419)Cag>Gag p.Q473E ZNF423_uc010vgn.2_Missense_Mutation_p.Q356E NM_015069 NP_055884 Q2M1K9 ZN423_HUMAN Homo sapiens zinc finger protein 423 (ZNF423), mRNA. 473 cell differentiation|negative regulation of transcription, DNA-dependent|nervous system development|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus zinc ion binding breast(1)|central_nervous_system(1)|endometrium(8)|kidney(6)|large_intestine(16)|lung(47)|ovary(1)|pancreas(2)|prostate(4)|skin(1)|urinary_tract(2) 89 all_cancers(37;0.0155) TTGCCAAACTGCATCACAGGG 0.577 OR1D2 4991 broad.mit.edu 37 17 2995386 2995386 + Missense_Mutation SNP C C A TCGA-19-2620-01A-01D-1495-08 TCGA-19-2620-10A-01D-1495-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6de41ac1-229b-40b9-a494-5588c284351d ede6d42c-895a-46f7-a0e3-11b152970581 g.chr17:2995386C>A uc010vrb.2 - 0 905 c.905G>T c.(904-906)aGa>aTa p.R302I NM_002548 NP_002539 P34982 OR1D2_HUMAN Homo sapiens olfactory receptor, family 1, subfamily D, member 2 (OR1D2), mRNA. 302 cellular component movement|chemotaxis|protein import into nucleus, translocation|sensory perception of smell|single fertilization integral to plasma membrane olfactory receptor activity kidney(2)|large_intestine(2)|lung(10)|ovary(1) 15 ATCTAGGAGTCTTCCCAGAGC 0.463 NF1 4763 broad.mit.edu 37 17 29508439 29508439 + Splice_Site SNP G G A rs66734387 TCGA-19-2620-01A-01D-1495-08 TCGA-19-2620-10A-01D-1495-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6de41ac1-229b-40b9-a494-5588c284351d ede6d42c-895a-46f7-a0e3-11b152970581 g.chr17:29508439G>A uc002hgg.3 + 6 970 c.587_splice c.e6-1 p.E196_splice NF1_uc002hge.2_Splice_Site_p.E196_splice|NF1_uc002hgf.2_Splice_Site_p.E196_splice|NF1_uc002hgh.3_Splice_Site_p.E196_splice|NF1_uc010csn.2_Splice_Site_p.E56_splice NM_001042492 NP_001035957 P21359 NF1_HUMAN Homo sapiens neurofibromin 1 (NF1), transcript variant 1, mRNA. 196 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|MAPKKK cascade|metanephros development|myelination in peripheral nervous system|negative regulation of cell migration|negative regulation of endothelial cell proliferation|negative regulation of MAP kinase activity|negative regulation of MAPKKK cascade|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|Ras protein signal transduction|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 protein binding|Ras GTPase activator activity p.0?(8)|p.?(4) NF1/ACCN1(2) autonomic_ganglia(12)|breast(11)|central_nervous_system(72)|cervix(6)|endometrium(12)|haematopoietic_and_lymphoid_tissue(59)|kidney(9)|large_intestine(39)|liver(1)|lung(80)|ovary(20)|pancreas(2)|prostate(2)|skin(8)|soft_tissue(249)|stomach(2)|thyroid(1)|upper_aerodigestive_tract(5)|urinary_tract(9) 599 all_cancers(10;1.29e-12)|all_epithelial(10;0.00347)|all_hematologic(16;0.00556)|Acute lymphoblastic leukemia(14;0.00593)|Breast(31;0.014)|Myeloproliferative disorder(56;0.0255)|all_lung(9;0.0321)|Lung NSC(157;0.0659) UCEC - Uterine corpus endometrioid carcinoma (4;4.38e-05)|all cancers(4;1.64e-26)|Epithelial(4;9.15e-23)|OV - Ovarian serous cystadenocarcinoma(4;3.58e-21)|GBM - Glioblastoma multiforme(4;0.00146) GTTTTTTCCAGAAACAGCATT 0.299 """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) WNT9B 7484 broad.mit.edu 37 17 44949992 44949992 + Missense_Mutation SNP C C T TCGA-19-2620-01A-01D-1495-08 TCGA-19-2620-10A-01D-1495-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6de41ac1-229b-40b9-a494-5588c284351d ede6d42c-895a-46f7-a0e3-11b152970581 g.chr17:44949992C>T uc002ikw.1 + 1 224 c.187C>T c.(187-189)Cgg>Tgg p.R63W WNT9B_uc002ikx.1_Missense_Mutation_p.R63W NM_003396 NP_003387 O14905 WNT9B_HUMAN Homo sapiens wingless-type MMTV integration site family, member 9B (WNT9B), mRNA. 63 anterior/posterior pattern formation|axis specification|branching involved in ureteric bud morphogenesis|canonical Wnt receptor signaling pathway|cell-cell signaling|cellular response to retinoic acid|collecting duct development|cornea development in camera-type eye|endoderm development|establishment of planar polarity involved in nephron morphogenesis|kidney rudiment formation|male genitalia development|mesonephric duct formation|metanephric tubule development|neuron differentiation|palate development|regulation of mesenchymal to epithelial transition involved in metanephros morphogenesis|uterus morphogenesis|Wnt receptor signaling pathway, calcium modulating pathway|Wnt receptor signaling pathway, planar cell polarity pathway extracellular space|plasma membrane|proteinaceous extracellular matrix extracellular matrix structural constituent|G-protein-coupled receptor binding large_intestine(2)|lung(8) 10 BRCA - Breast invasive adenocarcinoma(9;0.0257) GCTGTCCCGGCGGCAGAAGCA 0.682 IGF2BP1 10642 broad.mit.edu 37 17 47118832 47118832 + Missense_Mutation SNP A A C TCGA-19-2620-01A-01D-1495-08 TCGA-19-2620-10A-01D-1495-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6de41ac1-229b-40b9-a494-5588c284351d ede6d42c-895a-46f7-a0e3-11b152970581 g.chr17:47118832A>C uc002iom.3 + 7 1245 c.911A>C c.(910-912)cAa>cCa p.Q304P IGF2BP1_uc010dbj.3_Missense_Mutation_p.Q165P NM_006546 NP_006537 Q9NZI8 IF2B1_HUMAN Homo sapiens insulin-like growth factor 2 mRNA binding protein 1 (IGF2BP1), transcript variant 1, mRNA. 304 KH 2.|Necessary for interaction with ELAVL4 and binding to TAU mRNA (By similarity). CRD-mediated mRNA stabilization|negative regulation of translation|regulation of mRNA stability involved in response to stress CRD-mediated mRNA stability complex|cytosol|dendritic spine|lamellipodium|nucleus|plasma membrane|stress granule mRNA 3'-UTR binding|mRNA 5'-UTR binding|nucleotide binding|protein binding|translation regulator activity breast(1)|endometrium(3)|kidney(2)|large_intestine(8)|lung(12)|prostate(1)|skin(3)|upper_aerodigestive_tract(1) 31 AAGGTAGAGCAAGATACCGAG 0.498 SDK2 54549 broad.mit.edu 37 17 71418469 71418469 + Missense_Mutation SNP C C T TCGA-19-2620-01A-01D-1495-08 TCGA-19-2620-10A-01D-1495-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6de41ac1-229b-40b9-a494-5588c284351d ede6d42c-895a-46f7-a0e3-11b152970581 g.chr17:71418469C>T uc010dfm.3 - 14 2002 c.2002G>A c.(2002-2004)Gtc>Atc p.V668I SDK2_uc010dfn.2_Missense_Mutation_p.V347I NM_001144952 NP_001138424 Q58EX2 SDK2_HUMAN Homo sapiens sidekick cell adhesion molecule 2 (SDK2), mRNA. 668 Fibronectin type-III 1. cell adhesion integral to membrane breast(4)|central_nervous_system(2)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(3)|kidney(8)|large_intestine(15)|lung(31)|ovary(3)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3) 86 ACGTCGTTGACGGCACAAAGA 0.617 LAMA1 284217 broad.mit.edu 37 18 6999962 6999962 + Missense_Mutation SNP C C T TCGA-19-2620-01A-01D-1495-08 TCGA-19-2620-10A-01D-1495-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6de41ac1-229b-40b9-a494-5588c284351d ede6d42c-895a-46f7-a0e3-11b152970581 g.chr18:6999962C>T uc002knm.3 - 30 4511 c.4417G>A c.(4417-4419)Gat>Aat p.D1473N LAMA1_uc010wzj.2_Missense_Mutation_p.D949N NM_005559 NP_005550 P25391 LAMA1_HUMAN Homo sapiens laminin, alpha 1 (LAMA1), mRNA. 1473 Laminin EGF-like 16. axon guidance|cell adhesion|cell surface receptor linked signaling pathway|regulation of cell adhesion|regulation of cell migration|regulation of embryonic development extracellular space|laminin-1 complex|laminin-3 complex extracellular matrix structural constituent|receptor binding NS(4)|breast(7)|central_nervous_system(3)|cervix(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(12)|large_intestine(49)|liver(1)|lung(71)|ovary(9)|pancreas(3)|prostate(5)|skin(11)|stomach(7)|upper_aerodigestive_tract(8)|urinary_tract(3) 205 Colorectal(10;0.172) Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Tenecteplase(DB00031) CAACGGAAATCGTGGTCCCCT 0.423 RIOK3 8780 broad.mit.edu 37 18 21043044 21043044 + Splice_Site SNP G G A TCGA-19-2620-01A-01D-1495-08 TCGA-19-2620-10A-01D-1495-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6de41ac1-229b-40b9-a494-5588c284351d ede6d42c-895a-46f7-a0e3-11b152970581 g.chr18:21043044G>A uc002kui.4 + 2 796 c.179_splice c.e2+1 p.A60_splice RIOK3_uc010dls.3_Splice_Site_p.A60_splice|RIOK3_uc010xas.2_Splice_Site_p.A60_splice NM_003831 NP_003822 O14730 RIOK3_HUMAN Homo sapiens RIO kinase 3 (yeast) (RIOK3), mRNA. 60 chromosome segregation ATP binding|protein binding|protein serine/threonine kinase activity central_nervous_system(1)|kidney(3)|large_intestine(1)|lung(3)|ovary(2) 10 all_cancers(21;0.000106)|all_epithelial(16;6.74e-07)|Lung NSC(20;0.00171)|all_lung(20;0.0055)|Colorectal(14;0.0202)|Ovarian(20;0.127) CTGAAGTTGCGTAAGTAAAAT 0.363 DOCK6 57572 broad.mit.edu 37 19 11353971 11353971 + Missense_Mutation SNP C C T TCGA-19-2620-01A-01D-1495-08 TCGA-19-2620-10A-01D-1495-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6de41ac1-229b-40b9-a494-5588c284351d ede6d42c-895a-46f7-a0e3-11b152970581 g.chr19:11353971C>T uc002mqs.4 - 11 1390 c.1349G>A c.(1348-1350)cGt>cAt p.R450H NM_020812 NP_065863 Q96HP0 DOCK6_HUMAN Homo sapiens dedicator of cytokinesis 6 (DOCK6), mRNA. 450 blood coagulation cytosol GTP binding|GTPase binding|guanyl-nucleotide exchange factor activity p.R450C(1) breast(1)|central_nervous_system(1)|endometrium(11)|large_intestine(8)|liver(2)|lung(9)|ovary(4)|prostate(1)|skin(1)|urinary_tract(1) 39 CGTGGCTGGACGGAAGCCAGA 0.677 OREG0025252 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) OR7A10 390892 broad.mit.edu 37 19 14952342 14952342 + Silent SNP G G A TCGA-19-2620-01A-01D-1495-08 TCGA-19-2620-10A-01D-1495-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6de41ac1-229b-40b9-a494-5588c284351d ede6d42c-895a-46f7-a0e3-11b152970581 g.chr19:14952342G>A uc002mzx.1 - 0 348 c.348C>T c.(346-348)acC>acT p.T116T NM_001005190 NP_001005190 O76100 OR7AA_HUMAN Homo sapiens olfactory receptor, family 7, subfamily A, member 10 (OR7A10), mRNA. 116 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity NS(1)|breast(1)|endometrium(1)|kidney(2)|large_intestine(4)|lung(9)|stomach(1) 19 Ovarian(108;0.203) AGGCCATCACGGTCAGAAGGA 0.483 FCGBP 8857 broad.mit.edu 37 19 40364217 40364217 + Missense_Mutation SNP G G A TCGA-19-2620-01A-01D-1495-08 TCGA-19-2620-10A-01D-1495-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6de41ac1-229b-40b9-a494-5588c284351d ede6d42c-895a-46f7-a0e3-11b152970581 g.chr19:40364217G>A uc002omp.4 - 30 14433 c.14425C>T c.(14425-14427)Ccg>Tcg p.P4809S NM_003890 NP_003881 Q9Y6R7 FCGBP_HUMAN Homo sapiens Fc fragment of IgG binding protein (FCGBP), mRNA. 4809 extracellular region protein binding NS(3)|autonomic_ganglia(1)|breast(7)|central_nervous_system(5)|endometrium(13)|kidney(9)|large_intestine(27)|lung(49)|ovary(8)|pancreas(3)|prostate(13)|skin(9)|stomach(9)|upper_aerodigestive_tract(6)|urinary_tract(3) 165 all_cancers(60;6.03e-06)|all_lung(34;5.58e-08)|Lung NSC(34;6.62e-08)|Ovarian(47;0.06) Epithelial(26;6.25e-23)|all cancers(26;1.13e-20) TCAGGGCCCGGGTAGAAGACC 0.657 EML2 24139 broad.mit.edu 37 19 46112931 46112931 + Missense_Mutation SNP C C T TCGA-19-2620-01A-01D-1495-08 TCGA-19-2620-10A-01D-1495-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6de41ac1-229b-40b9-a494-5588c284351d ede6d42c-895a-46f7-a0e3-11b152970581 g.chr19:46112931C>T uc010xxm.2 - 21 2616 c.2543G>A c.(2542-2544)cGg>cAg p.R848Q EML2_uc002pcn.3_Missense_Mutation_p.R647Q|EML2_uc002pcp.3_Missense_Mutation_p.R531Q|EML2_uc002pco.3_Non-coding_Transcript|EML2_uc010xxl.2_Missense_Mutation_p.R794Q NM_001193268 NP_001180197 O95834 EMAL2_HUMAN Homo sapiens echinoderm microtubule associated protein like 2 (EML2), transcript variant 1, mRNA. 647 sensory perception of sound|visual perception cytoplasm|intracellular membrane-bounded organelle|microtubule|microtubule associated complex catalytic activity|protein binding NS(1)|breast(2)|cervix(1)|endometrium(1)|kidney(3)|large_intestine(8)|lung(13)|ovary(1)|urinary_tract(1) 31 Ovarian(192;0.179)|all_neural(266;0.224) OV - Ovarian serous cystadenocarcinoma(262;0.00553)|GBM - Glioblastoma multiforme(486;0.131)|Epithelial(262;0.197) TCAGACCACCCGCCACTGTAG 0.537 ELSPBP1 64100 broad.mit.edu 37 19 48525436 48525436 + Missense_Mutation SNP C C T TCGA-19-2620-01A-01D-1495-08 TCGA-19-2620-10A-01D-1495-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6de41ac1-229b-40b9-a494-5588c284351d ede6d42c-895a-46f7-a0e3-11b152970581 g.chr19:48525436C>T uc002pht.3 + 5 702 c.524C>T c.(523-525)gCg>gTg p.A175V NM_022142 NP_071425 Q96BH3 ESPB1_HUMAN Homo sapiens epididymal sperm binding protein 1 (ELSPBP1), mRNA. 175 single fertilization extracellular region NS(1)|breast(1)|kidney(1)|large_intestine(1)|lung(6) 10 all_cancers(25;8.7e-09)|all_lung(116;1.15e-06)|all_epithelial(76;1.17e-06)|Lung NSC(112;2.56e-06)|all_neural(266;0.0138)|Ovarian(192;0.0261)|Breast(70;0.203) OV - Ovarian serous cystadenocarcinoma(262;0.000253)|all cancers(93;0.00129)|Epithelial(262;0.0314)|GBM - Glioblastoma multiforme(486;0.0606) GGAATTTCCGCGTTGGTCCCT 0.453 LPIN1 23175 broad.mit.edu 37 2 11943091 11943091 + Missense_Mutation SNP G G A TCGA-19-2620-01A-01D-1495-08 TCGA-19-2620-10A-01D-1495-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6de41ac1-229b-40b9-a494-5588c284351d ede6d42c-895a-46f7-a0e3-11b152970581 g.chr2:11943091G>A uc010yjm.2 + 15 2145 c.2092G>A c.(2092-2094)Gca>Aca p.A698T LPIN1_uc010yjn.2_Missense_Mutation_p.A613T|LPIN1_uc002rbt.3_Missense_Mutation_p.A613T|LPIN1_uc010yjo.2_Missense_Mutation_p.A114T NM_145693 NP_663731 Q14693 LPIN1_HUMAN Homo sapiens lipin 1 (LPIN1), mRNA. 613 C-LIP. fatty acid catabolic process|transcription, DNA-dependent|triglyceride biosynthetic process|triglyceride mobilization cytosol|endoplasmic reticulum membrane phosphatidate phosphatase activity autonomic_ganglia(1)|breast(1)|cervix(1)|endometrium(2)|kidney(5)|large_intestine(15)|liver(1)|lung(10)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2) 45 all_hematologic(175;0.127)|Acute lymphoblastic leukemia(172;0.155) Epithelial(75;0.11)|OV - Ovarian serous cystadenocarcinoma(76;0.173) GCCATCAAACGCAGGCCACCT 0.532 IL1RL1 9173 broad.mit.edu 37 2 102959595 102959595 + Missense_Mutation SNP T T C TCGA-19-2620-01A-01D-1495-08 TCGA-19-2620-10A-01D-1495-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6de41ac1-229b-40b9-a494-5588c284351d ede6d42c-895a-46f7-a0e3-11b152970581 g.chr2:102959595T>C uc002tbu.1 + 6 1053 c.782T>C c.(781-783)tTt>tCt p.F261S IL1RL1_uc010ywa.2_Missense_Mutation_p.F144S|IL18R1_uc002tbw.4_Intron|IL1RL1_uc002tbv.3_Missense_Mutation_p.F261S NM_016232 NP_057316 Q01638 ILRL1_HUMAN Homo sapiens interleukin 1 receptor-like 1 (IL1RL1), transcript variant 1, mRNA. 261 Ig-like C2-type 3. innate immune response integral to membrane interleukin-1 receptor activity|receptor signaling protein activity NS(1)|central_nervous_system(1)|kidney(1)|large_intestine(3)|lung(5)|ovary(1)|skin(3)|urinary_tract(1) 16 ATTACAGACTTTGGTGAACCA 0.423 LRP2 4036 broad.mit.edu 37 2 170066149 170066149 + Nonsense_Mutation SNP G G A TCGA-19-2620-01A-01D-1495-08 TCGA-19-2620-10A-01D-1495-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6de41ac1-229b-40b9-a494-5588c284351d ede6d42c-895a-46f7-a0e3-11b152970581 g.chr2:170066149G>A uc002ues.3 - 37 6496 c.6283C>T c.(6283-6285)Cga>Tga p.R2095* NM_004525 NP_004516 P98164 LRP2_HUMAN Homo sapiens low density lipoprotein receptor-related protein 2 (LRP2), mRNA. 2095 hormone biosynthetic process|protein glycosylation|receptor-mediated endocytosis|vitamin D metabolic process coated pit|integral to membrane|lysosome calcium ion binding|receptor activity|SH3 domain binding p.R2095Q(2) biliary_tract(1)|breast(16)|central_nervous_system(6)|cervix(2)|endometrium(24)|haematopoietic_and_lymphoid_tissue(2)|kidney(17)|large_intestine(70)|liver(1)|lung(117)|ovary(19)|pancreas(1)|prostate(2)|skin(17)|upper_aerodigestive_tract(7)|urinary_tract(13) 315 STAD - Stomach adenocarcinoma(1183;0.000766)|COAD - Colon adenocarcinoma(177;0.0101) Gentamicin(DB00798)|Insulin Glargine recombinant(DB00047)|Insulin Lyspro recombinant(DB00046)|Insulin recombinant(DB00030)|Insulin, porcine(DB00071)|Urokinase(DB00013) AGTGCGTTTCGTCCTGGAAGT 0.418 DNAH7 56171 broad.mit.edu 37 2 196765215 196765215 + Missense_Mutation SNP G G C TCGA-19-2620-01A-01D-1495-08 TCGA-19-2620-10A-01D-1495-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6de41ac1-229b-40b9-a494-5588c284351d ede6d42c-895a-46f7-a0e3-11b152970581 g.chr2:196765215G>C uc002utj.4 - 27 4440 c.4339C>G c.(4339-4341)Ctc>Gtc p.L1447V NM_018897 NP_061720 Q8WXX0 DYH7_HUMAN Homo sapiens dynein, axonemal, heavy chain 7 (DNAH7), mRNA. 1447 AAA 1 (By similarity). ciliary or flagellar motility|microtubule-based movement axonemal dynein complex|cilium axoneme|cytoplasm|microtubule ATP binding|microtubule motor activity p.L1447L(1) NS(4)|breast(2)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(15)|large_intestine(28)|liver(3)|lung(100)|ovary(4)|prostate(5)|skin(26)|upper_aerodigestive_tract(2)|urinary_tract(3) 205 GTCCGAAAGAGAGCCTATGGG 0.418 AOX1 316 broad.mit.edu 37 2 201478598 201478598 + Missense_Mutation SNP C C T TCGA-19-2620-01A-01D-1495-08 TCGA-19-2620-10A-01D-1495-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6de41ac1-229b-40b9-a494-5588c284351d ede6d42c-895a-46f7-a0e3-11b152970581 g.chr2:201478598C>T uc002uvx.3 + 14 1621 c.1520C>T c.(1519-1521)gCg>gTg p.A507V AOX1_uc010zhf.2_Missense_Mutation_p.A63V|AOX1_uc010fsu.3_5'UTR NM_001159 NP_001150 Q06278 ADO_HUMAN Homo sapiens aldehyde oxidase 1 (AOX1), mRNA. 507 inflammatory response|reactive oxygen species metabolic process cytoplasm 2 iron, 2 sulfur cluster binding|aldehyde oxidase activity|flavin adenine dinucleotide binding|iron ion binding|NAD binding|xanthine dehydrogenase activity p.A507V(2)|p.A507A(1) breast(5)|endometrium(3)|kidney(4)|large_intestine(13)|lung(38)|ovary(5)|pancreas(1)|prostate(2)|skin(3)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(3) 81 Brimonidine(DB00484)|Chlorpromazine(DB00477)|Famciclovir(DB00426)|Menadione(DB00170)|Methotrexate(DB00563)|NADH(DB00157)|Palonosetron(DB00377)|Penciclovir(DB00299)|Raloxifene(DB00481)|Zaleplon(DB00962)|Zonisamide(DB00909) TTGGGCTCGGCGCCAGGTGGG 0.473 FAM126B 285172 broad.mit.edu 37 2 201881771 201881771 + Silent SNP G G A TCGA-19-2620-01A-01D-1495-08 TCGA-19-2620-10A-01D-1495-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6de41ac1-229b-40b9-a494-5588c284351d ede6d42c-895a-46f7-a0e3-11b152970581 g.chr2:201881771G>A uc002uws.4 - 4 464 c.276C>T c.(274-276)agC>agT p.S92S FAM126B_uc002uwu.3_Silent_p.S10S|FAM126B_uc002uwv.3_Silent_p.S92S|FAM126B_uc002uww.1_Silent_p.S92S NM_173822 NP_776183 Q8IXS8 F126B_HUMAN Homo sapiens family with sequence similarity 126, member B (FAM126B), mRNA. 92 intracellular endometrium(2)|kidney(1)|large_intestine(3)|lung(5)|ovary(2)|prostate(2)|upper_aerodigestive_tract(1) 16 GTCTGTCTCGGCTAACTGTAA 0.388 TRPM8 79054 broad.mit.edu 37 2 234835206 234835206 + Silent SNP C C A TCGA-19-2620-01A-01D-1495-08 TCGA-19-2620-10A-01D-1495-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6de41ac1-229b-40b9-a494-5588c284351d ede6d42c-895a-46f7-a0e3-11b152970581 g.chr2:234835206C>A uc002vvh.3 + 1 64 c.24C>A c.(22-24)ctC>ctA p.L8L TRPM8_uc010fyj.3_5'UTR NM_024080 NP_076985 Q7Z2W7 TRPM8_HUMAN Homo sapiens transient receptor potential cation channel, subfamily M, member 8 (TRPM8), mRNA. 8 integral to membrane breast(5)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(15)|liver(2)|lung(27)|prostate(2)|skin(7)|stomach(2) 66 Breast(86;0.00205)|Renal(207;0.00694)|all_lung(227;0.0129)|Lung NSC(271;0.0408)|all_hematologic(139;0.0753)|Acute lymphoblastic leukemia(138;0.224) Epithelial(121;1.19e-17)|BRCA - Breast invasive adenocarcinoma(100;0.000139)|Lung(119;0.00758)|LUSC - Lung squamous cell carcinoma(224;0.0108) Menthol(DB00825) CAGCCAGGCTCAGCATGAGGA 0.522 PROKR2 128674 broad.mit.edu 37 20 5282952 5282952 + Missense_Mutation SNP C C T rs139399061 byFrequency TCGA-19-2620-01A-01D-1495-08 TCGA-19-2620-10A-01D-1495-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6de41ac1-229b-40b9-a494-5588c284351d ede6d42c-895a-46f7-a0e3-11b152970581 g.chr20:5282952C>T uc010zqw.2 - 1 897 c.889G>A c.(889-891)Gtt>Att p.V297I PROKR2_uc010zqx.2_Missense_Mutation_p.V297I|PROKR2_uc010zqy.2_Missense_Mutation_p.V297I NM_144773 NP_658986 Q8NFJ6 PKR2_HUMAN Homo sapiens prokineticin receptor 2 (PROKR2), mRNA. 297 integral to membrane|plasma membrane neuropeptide Y receptor activity autonomic_ganglia(1)|breast(3)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(4)|liver(3)|lung(22)|ovary(5)|pancreas(2)|prostate(2)|skin(3)|upper_aerodigestive_tract(4) 53 AAGTCACGAACGATGGTGAAA 0.562 HNSCC(71;0.22) SYCP2 10388 broad.mit.edu 37 20 58489299 58489299 + Missense_Mutation SNP G G T TCGA-19-2620-01A-01D-1495-08 TCGA-19-2620-10A-01D-1495-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6de41ac1-229b-40b9-a494-5588c284351d ede6d42c-895a-46f7-a0e3-11b152970581 g.chr20:58489299G>T uc002yaz.3 - 9 781 c.642C>A c.(640-642)gaC>gaA p.D214E SYCP2_uc010gju.1_Missense_Mutation_p.D115E NM_014258 NP_055073 Q9BX26 SYCP2_HUMAN Homo sapiens synaptonemal complex protein 2 (SYCP2), mRNA. 214 cell division|meiotic prophase I|synaptonemal complex assembly DNA binding NS(4)|breast(2)|central_nervous_system(1)|endometrium(7)|kidney(1)|large_intestine(14)|lung(12)|ovary(4)|prostate(1)|skin(2)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1) 53 all_lung(29;0.00344) BRCA - Breast invasive adenocarcinoma(7;1.19e-09) CTACCTGTAAGTCATAATCTA 0.289 ARFGAP1 55738 broad.mit.edu 37 20 61907550 61907550 + Silent SNP C C A TCGA-19-2620-01A-01D-1495-08 TCGA-19-2620-10A-01D-1495-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6de41ac1-229b-40b9-a494-5588c284351d ede6d42c-895a-46f7-a0e3-11b152970581 g.chr20:61907550C>A uc002yem.3 + 2 280 c.168C>A c.(166-168)ctC>ctA p.L56L ARFGAP1_uc011aas.1_Intron|ARFGAP1_uc011aat.1_5'UTR|ARFGAP1_uc002yel.3_Silent_p.L56L|ARFGAP1_uc002yen.3_Silent_p.L56L NM_018209 NP_060679 Q8N6T3 ARFG1_HUMAN Homo sapiens ADP-ribosylation factor GTPase activating protein 1 (ARFGAP1), transcript variant 1, mRNA. 56 Arf-GAP. COPI coating of Golgi vesicle|protein transport|regulation of ARF GTPase activity|retrograde vesicle-mediated transport, Golgi to ER cytosol|Golgi-associated vesicle membrane ARF GTPase activator activity|zinc ion binding endometrium(2)|kidney(2)|large_intestine(1)|lung(6)|ovary(1)|pancreas(1) 13 all_cancers(38;1.59e-09) GGGTTCACCTCAGGTCAGTGT 0.642 OR5H2 79310 broad.mit.edu 37 3 98001924 98001924 + Missense_Mutation SNP T T A TCGA-19-2620-01A-01D-1495-08 TCGA-19-2620-10A-01D-1495-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6de41ac1-229b-40b9-a494-5588c284351d ede6d42c-895a-46f7-a0e3-11b152970581 g.chr3:98001924T>A uc003dsj.1 + 0 193 c.193T>A c.(193-195)Tac>Aac p.Y65N NM_001005482 NP_001005482 Q8NGV7 OR5H2_HUMAN Homo sapiens olfactory receptor, family 5, subfamily H, member 2 (OR5H2), mRNA. 65 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity breast(1)|endometrium(1)|large_intestine(5)|lung(13)|ovary(3)|upper_aerodigestive_tract(1) 24 CATCCCCATGTACTTTTTTCT 0.408 OR5H2 79310 broad.mit.edu 37 3 98002428 98002428 + Missense_Mutation SNP A A C TCGA-19-2620-01A-01D-1495-08 TCGA-19-2620-10A-01D-1495-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6de41ac1-229b-40b9-a494-5588c284351d ede6d42c-895a-46f7-a0e3-11b152970581 g.chr3:98002428A>C uc003dsj.1 + 0 697 c.697A>C c.(697-699)Aag>Cag p.K233Q NM_001005482 NP_001005482 Q8NGV7 OR5H2_HUMAN Homo sapiens olfactory receptor, family 5, subfamily H, member 2 (OR5H2), mRNA. 233 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity breast(1)|endometrium(1)|large_intestine(5)|lung(13)|ovary(3)|upper_aerodigestive_tract(1) 24 AATCCTAAAAAAGAAGTCTGT 0.363 SLCO2A1 6578 broad.mit.edu 37 3 133692615 133692615 + Missense_Mutation SNP G G A TCGA-19-2620-01A-01D-1495-08 TCGA-19-2620-10A-01D-1495-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6de41ac1-229b-40b9-a494-5588c284351d ede6d42c-895a-46f7-a0e3-11b152970581 g.chr3:133692615G>A uc003eqa.4 - 2 563 c.289C>T c.(289-291)Cgt>Tgt p.R97C SLCO2A1_uc011blv.2_Missense_Mutation_p.R97C|SLCO2A1_uc010htw.1_5'UTR NM_005630 NP_005621 Q92959 SO2A1_HUMAN Homo sapiens solute carrier organic anion transporter family, member 2A1 (SLCO2A1), mRNA. 97 sodium-independent organic anion transport integral to plasma membrane|membrane fraction prostaglandin transmembrane transporter activity|protein binding p.R97H(1) breast(3)|central_nervous_system(1)|cervix(1)|endometrium(3)|large_intestine(5)|lung(10)|ovary(1)|prostate(2)|skin(2)|stomach(2) 30 AGACGTGGACGGTGCACCCGG 0.572 U2SURP 23350 broad.mit.edu 37 3 142735741 142735741 + Missense_Mutation SNP C C T TCGA-19-2620-01A-01D-1495-08 TCGA-19-2620-10A-01D-1495-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6de41ac1-229b-40b9-a494-5588c284351d ede6d42c-895a-46f7-a0e3-11b152970581 g.chr3:142735741C>T uc003evh.1 + 5 593 c.494C>T c.(493-495)gCa>gTa p.A165V U2SURP_uc003evi.1_5'UTR|U2SURP_uc011bnj.1_Missense_Mutation_p.A165V|U2SURP_uc003evj.1_Non-coding_Transcript|U2SURP_uc003evk.1_Missense_Mutation_p.A165V NM_001080415 NP_001073884 O15042 SR140_HUMAN Homo sapiens U2 snRNP-associated SURP domain containing (U2SURP), mRNA. 165 RNA processing nucleus nucleotide binding|RNA binding NS(1)|breast(2)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(6)|lung(12)|ovary(2)|pancreas(1)|prostate(1)|skin(1) 31 TCAAGATTTGCAGATCAAAAA 0.303 BCHE 590 broad.mit.edu 37 3 165548715 165548715 + Missense_Mutation SNP G G T TCGA-19-2620-01A-01D-1495-08 TCGA-19-2620-10A-01D-1495-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6de41ac1-229b-40b9-a494-5588c284351d ede6d42c-895a-46f7-a0e3-11b152970581 g.chr3:165548715G>T uc003fem.4 - 1 267 c.107C>A c.(106-108)aCa>aAa p.T36K BCHE_uc003fen.4_Intron NM_000055 NP_000046 P06276 CHLE_HUMAN Homo sapiens butyrylcholinesterase (BCHE), mRNA. 36 choline metabolic process|cocaine metabolic process|synaptic transmission, cholinergic endoplasmic reticulum lumen|extracellular space|membrane acetylcholinesterase activity|beta-amyloid binding|carboxylesterase activity|cholinesterase activity|enzyme binding breast(1)|endometrium(2)|kidney(1)|large_intestine(10)|lung(34)|ovary(4)|pancreas(2)|stomach(1) 55 Ambenonium(DB01122)|Atropine(DB00572)|Bambuterol(DB01408)|Chlorpromazine(DB00477)|Choline(DB00122)|Cinnarizine(DB00568)|Demecarium bromide(DB00944)|Dibucaine(DB00527)|Donepezil(DB00843)|Echothiophate Iodide(DB01057)|Edrophonium(DB01010)|Ethopropazine(DB00392)|Etomidate(DB00292)|Galantamine(DB00674)|Hexafluronium bromide(DB00941)|Isoflurophate(DB00677)|Mefloquine(DB00358)|Mivacurium(DB01226)|Neostigmine(DB01400)|Pancuronium(DB01337)|Pralidoxime(DB00733)|Procainamide(DB01035)|Pyridostigmine(DB00545)|Rivastigmine(DB00989)|Succinylcholine(DB00202)|Terbutaline(DB00871)|Trimethaphan(DB01116) TCCATTCTTTGTTGCAATTAT 0.408 GHSR 2693 broad.mit.edu 37 3 172165593 172165593 + Missense_Mutation SNP G G A rs121917883 TCGA-19-2620-01A-01D-1495-08 TCGA-19-2620-10A-01D-1495-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6de41ac1-229b-40b9-a494-5588c284351d ede6d42c-895a-46f7-a0e3-11b152970581 g.chr3:172165593G>A uc003fib.2 - 0 654 c.611C>T c.(610-612)gCg>gTg p.A204V GHSR_uc011bpv.2_Missense_Mutation_p.A204V NM_198407 NP_940799 Q92847 GHSR_HUMAN Homo sapiens growth hormone secretagogue receptor (GHSR), transcript variant 1a, mRNA. 204 A -> E (in ISSA; affects cell-surface expression; impairs constitutive activity but not the ability to respond to ghrelin). actin polymerization or depolymerization|adult feeding behavior|decidualization|growth hormone secretion|hormone-mediated signaling pathway|negative regulation of inflammatory response|negative regulation of interleukin-1 beta production|negative regulation of interleukin-6 biosynthetic process|negative regulation of tumor necrosis factor biosynthetic process|positive regulation of appetite|positive regulation of multicellular organism growth cell surface|integral to membrane|membrane raft|neuron projection|plasma membrane growth hormone secretagogue receptor activity|growth hormone-releasing hormone receptor activity biliary_tract(1)|breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(6)|lung(16)|ovary(2)|prostate(3)|skin(1)|urinary_tract(1) 33 Ovarian(172;0.00143)|Breast(254;0.197) Lung(28;3.93e-15)|LUSC - Lung squamous cell carcinoma(14;1.48e-14)|STAD - Stomach adenocarcinoma(35;0.235) AGAGCGCACCGCAAACTCGGT 0.622 CCDC158 339965 broad.mit.edu 37 4 77288530 77288530 + Nonsense_Mutation SNP G G A TCGA-19-2620-01A-01D-1495-08 TCGA-19-2620-10A-01D-1495-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6de41ac1-229b-40b9-a494-5588c284351d ede6d42c-895a-46f7-a0e3-11b152970581 g.chr4:77288530G>A uc003hkb.4 - 10 1900 c.1747C>T c.(1747-1749)Cga>Tga p.R583* NM_001042784 NP_001036249 Q5M9N0 CD158_HUMAN Homo sapiens coiled-coil domain containing 158 (CCDC158), mRNA. 583 p.R583Q(1) breast(1)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|lung(28)|ovary(3)|pancreas(1)|prostate(1)|skin(6)|stomach(1) 56 CCAGCAGTTCGTCCATGCTGG 0.453 SEC31A 22872 broad.mit.edu 37 4 83799939 83799939 + Missense_Mutation SNP C C T TCGA-19-2620-01A-01D-1495-08 TCGA-19-2620-10A-01D-1495-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6de41ac1-229b-40b9-a494-5588c284351d ede6d42c-895a-46f7-a0e3-11b152970581 g.chr4:83799939C>T uc003hnh.3 - 3 526 c.346G>A c.(346-348)Gcc>Acc p.A116T SEC31A_uc011ccl.2_Missense_Mutation_p.A116T|SEC31A_uc003hnl.3_Missense_Mutation_p.A116T|SEC31A_uc003hng.3_Missense_Mutation_p.A116T|SEC31A_uc011ccm.2_Missense_Mutation_p.A111T|SEC31A_uc003hni.3_Missense_Mutation_p.A116T|SEC31A_uc003hnk.3_Missense_Mutation_p.A116T|SEC31A_uc003hnf.3_Missense_Mutation_p.A116T|SEC31A_uc011ccn.2_Missense_Mutation_p.A116T|SEC31A_uc003hnm.3_Missense_Mutation_p.A116T|SEC31A_uc003hnn.2_Missense_Mutation_p.A116T|SEC31A_uc003hno.3_Missense_Mutation_p.A116T NM_014933 NP_055748 O94979 SC31A_HUMAN Homo sapiens SEC31 homolog A (S. cerevisiae) (SEC31A), transcript variant 1, mRNA. 116 COPII vesicle coating|post-translational protein modification|protein N-linked glycosylation via asparagine|protein transport|response to calcium ion COPII vesicle coat|cytosol|endoplasmic reticulum membrane|perinuclear region of cytoplasm calcium-dependent protein binding SEC31A/ALK(3)|SEC31A/JAK2(4) breast(1) 1 Hepatocellular(203;0.114) TCATTCTGGGCAATCACAACT 0.398 PCDH18 54510 broad.mit.edu 37 4 138451923 138451923 + Silent SNP C C T TCGA-19-2620-01A-01D-1495-08 TCGA-19-2620-10A-01D-1495-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6de41ac1-229b-40b9-a494-5588c284351d ede6d42c-895a-46f7-a0e3-11b152970581 g.chr4:138451923C>T uc003ihe.4 - 0 1707 c.1320G>A c.(1318-1320)agG>agA p.R440R PCDH18_uc003ihf.4_Silent_p.R433R|PCDH18_uc011cgz.2_Intron|PCDH18_uc003ihg.4_Silent_p.R220R|PCDH18_uc011cha.2_Intron NM_019035 NP_061908 Q9HCL0 PCD18_HUMAN Homo sapiens protocadherin 18 (PCDH18), mRNA. 440 Cadherin 4. brain development|homophilic cell adhesion integral to membrane|plasma membrane calcium ion binding NS(1)|breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(27)|lung(21)|ovary(2)|pancreas(4)|prostate(3)|skin(12)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1) 86 all_hematologic(180;0.24) TGGGTGTCCCCCTGTCCTCAG 0.373 MYO10 4651 broad.mit.edu 37 5 16668507 16668507 + Missense_Mutation SNP C C T TCGA-19-2620-01A-01D-1495-08 TCGA-19-2620-10A-01D-1495-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6de41ac1-229b-40b9-a494-5588c284351d ede6d42c-895a-46f7-a0e3-11b152970581 g.chr5:16668507C>T uc003jft.4 - 39 6422 c.5954G>A c.(5953-5955)cGt>cAt p.R1985H MYO10_uc011cnb.2_Missense_Mutation_p.R614H|MYO10_uc011cnc.2_Missense_Mutation_p.R864H|MYO10_uc011cnd.2_Missense_Mutation_p.R1342H|MYO10_uc011cne.2_Missense_Mutation_p.R1342H|MYO10_uc010itx.3_Missense_Mutation_p.R1607H NM_012334 NP_036466 Q9HD67 MYO10_HUMAN Homo sapiens myosin X (MYO10), mRNA. 1985 FERM. axon guidance|signal transduction myosin complex actin binding|ATP binding|motor activity NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(11)|large_intestine(19)|lung(28)|ovary(2)|pancreas(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2) 86 TCCCTCTCCACGCTTGTAGAC 0.547 CDH9 1007 broad.mit.edu 37 5 26885965 26885965 + Missense_Mutation SNP G G A TCGA-19-2620-01A-01D-1495-08 TCGA-19-2620-10A-01D-1495-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6de41ac1-229b-40b9-a494-5588c284351d ede6d42c-895a-46f7-a0e3-11b152970581 g.chr5:26885965G>A uc003jgs.1 - 10 1809 c.1640C>T c.(1639-1641)gCa>gTa p.A547V CDH9_uc011cnv.1_Missense_Mutation_p.A140V NM_016279 NP_057363 Q9ULB4 CADH9_HUMAN Homo sapiens cadherin 9, type 2 (T1-cadherin) (CDH9), mRNA. 547 Cadherin 5. adherens junction organization|cell junction assembly|homophilic cell adhesion integral to membrane|plasma membrane calcium ion binding breast(6)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(25)|lung(80)|ovary(5)|prostate(4)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1) 137 CATGATTCCTGCTGTATTATC 0.318 ANKHD1-EIF4EBP3 404734 broad.mit.edu 37 5 139889605 139889605 + Missense_Mutation SNP G G A TCGA-19-2620-01A-01D-1495-08 TCGA-19-2620-10A-01D-1495-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6de41ac1-229b-40b9-a494-5588c284351d ede6d42c-895a-46f7-a0e3-11b152970581 g.chr5:139889605G>A uc003lfs.2 + 22 4096 c.3942_splice c.e22-1 p.R1314_splice ANKHD1-EIF4EBP3_uc003lfq.2_Splice_Site_p.R1333_splice|ANKHD1-EIF4EBP3_uc003lfr.3_Splice_Site_p.R1314_splice|ANKHD1-EIF4EBP3_uc003lft.1_Splice_Site_p.R525_splice|ANKHD1-EIF4EBP3_uc003lfu.1_Splice_Site_p.R794_splice|ANKHD1-EIF4EBP3_uc003lfv.1_Splice_Site_p.R391_splice|ANKHD1-EIF4EBP3_uc011czh.1_Splice_Site_p.R53_splice|ANKHD1-EIF4EBP3_uc003lfw.3_Splice_Site NM_020690 NP_065741 Q8IWZ2 Q8IWZ2_HUMAN Homo sapiens ANKHD1-EIF4EBP3 readthrough (ANKHD1-EIF4EBP3), mRNA. 1314 cytoplasm|nucleus RNA binding breast(1)|endometrium(8)|kidney(6)|large_intestine(14)|lung(17)|ovary(6)|prostate(2)|skin(1)|urinary_tract(2) 57 KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191) TGTTTACAGGGGAGCCCACAT 0.393 PCDHAC2 56144 broad.mit.edu 37 5 140188686 140188686 + Silent SNP C C T TCGA-19-2620-01A-01D-1495-08 TCGA-19-2620-10A-01D-1495-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6de41ac1-229b-40b9-a494-5588c284351d ede6d42c-895a-46f7-a0e3-11b152970581 g.chr5:140188686C>T uc003lhi.2 + 0 2015 c.1914C>T c.(1912-1914)gaC>gaT p.D638D PCDHAC2_uc003lha.2_Intron|PCDHAC2_uc003lhb.2_Intron|PCDHAC2_uc003lhd.2_Intron|PCDHAC2_uc003lhf.2_Intron|PCDHAC2_uc003lhh.1_Silent_p.D638D|PCDHAC2_uc011daa.2_Silent_p.D638D NM_018907 NP_061730 Q9Y5I4 PCDC2_HUMAN Homo sapiens protocadherin alpha 4 (PCDHA4), transcript variant 1, mRNA. 649 Cadherin 6. homophilic cell adhesion|nervous system development integral to plasma membrane calcium ion binding NS(1)|breast(1)|endometrium(4)|kidney(4)|large_intestine(10)|liver(2)|lung(9)|ovary(2)|prostate(1)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(1) 45 KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191) GTGCCCTGGACGAAACGGACG 0.677 PCDHGC5 56102 broad.mit.edu 37 5 140751537 140751537 + Missense_Mutation SNP C C T TCGA-19-2620-01A-01D-1495-08 TCGA-19-2620-10A-01D-1495-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6de41ac1-229b-40b9-a494-5588c284351d ede6d42c-895a-46f7-a0e3-11b152970581 g.chr5:140751537C>T uc003ljw.2 + 0 1576 c.1576C>T c.(1576-1578)Cgt>Tgt p.R526C 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_uc003ljy.2_5'Flank|PCDHGC5_uc011dat.2_Missense_Mutation_p.R526C|PCDHGC5_uc011dau.2_5'Flank NM_018924 NP_061747 Q9Y5F6 PCDGM_HUMAN Homo sapiens protocadherin gamma subfamily B, 3 (PCDHGB3), transcript variant 1, mRNA. 528 Cadherin 5. homophilic cell adhesion integral to membrane|plasma membrane calcium ion binding breast(2)|central_nervous_system(2)|endometrium(6)|kidney(4)|large_intestine(4)|lung(10)|ovary(4)|prostate(1)|urinary_tract(2) 35 KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191) CGAGCAGCTGCGTGCCTTCGA 0.692 CAMK2A 815 broad.mit.edu 37 5 149602771 149602771 + Missense_Mutation SNP C C T TCGA-19-2620-01A-01D-1495-08 TCGA-19-2620-10A-01D-1495-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6de41ac1-229b-40b9-a494-5588c284351d ede6d42c-895a-46f7-a0e3-11b152970581 g.chr5:149602771C>T uc003lru.2 - 16 1429 c.1214G>A c.(1213-1215)cGg>cAg p.R405Q CAMK2A_uc003lrt.2_Missense_Mutation_p.R416Q NM_171825 NP_741960 Q9UQM7 KCC2A_HUMAN Homo sapiens calcium/calmodulin-dependent protein kinase II alpha (CAMK2A), transcript variant 2, mRNA. 405 interferon-gamma-mediated signaling pathway|positive regulation of NF-kappaB transcription factor activity|synaptic transmission cell junction|cytosol|endocytic vesicle membrane|nucleoplasm|presynaptic membrane ATP binding|calmodulin binding|calmodulin-dependent protein kinase activity cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(6)|skin(1)|stomach(1) 15 all_hematologic(541;0.224) KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101) CTTGCTGTTCCGGGACCACAC 0.612 LARP1 23367 broad.mit.edu 37 5 154188110 154188110 + Silent SNP G G A TCGA-19-2620-01A-01D-1495-08 TCGA-19-2620-10A-01D-1495-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6de41ac1-229b-40b9-a494-5588c284351d ede6d42c-895a-46f7-a0e3-11b152970581 g.chr5:154188110G>A uc003lvo.3 + 15 2583 c.2559G>A c.(2557-2559)aaG>aaA p.K853K LARP1_uc021ygh.1_Silent_p.K725K NM_015315 NP_056130 Q6PKG0 LARP1_HUMAN Homo sapiens La ribonucleoprotein domain family, member 1 (LARP1), transcript variant 1, mRNA. 930 protein binding|RNA binding breast(1)|endometrium(3)|kidney(2)|large_intestine(10)|lung(9)|ovary(3)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1) 33 Renal(175;0.00488) Medulloblastoma(196;0.0354)|all_neural(177;0.147) KIRC - Kidney renal clear cell carcinoma(527;0.00112) TCAACAAAAAGATGTATGAGG 0.532 LARP1 23367 broad.mit.edu 37 5 154188112 154188112 + Missense_Mutation SNP T T A TCGA-19-2620-01A-01D-1495-08 TCGA-19-2620-10A-01D-1495-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6de41ac1-229b-40b9-a494-5588c284351d ede6d42c-895a-46f7-a0e3-11b152970581 g.chr5:154188112T>A uc003lvo.3 + 15 2585 c.2561T>A c.(2560-2562)aTg>aAg p.M854K LARP1_uc021ygh.1_Missense_Mutation_p.M726K NM_015315 NP_056130 Q6PKG0 LARP1_HUMAN Homo sapiens La ribonucleoprotein domain family, member 1 (LARP1), transcript variant 1, mRNA. 931 protein binding|RNA binding breast(1)|endometrium(3)|kidney(2)|large_intestine(10)|lung(9)|ovary(3)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1) 33 Renal(175;0.00488) Medulloblastoma(196;0.0354)|all_neural(177;0.147) KIRC - Kidney renal clear cell carcinoma(527;0.00112) AACAAAAAGATGTATGAGGAG 0.532 GABRA6 2559 broad.mit.edu 37 5 161116737 161116737 + Missense_Mutation SNP G G T rs145469537 TCGA-19-2620-01A-01D-1495-08 TCGA-19-2620-10A-01D-1495-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6de41ac1-229b-40b9-a494-5588c284351d ede6d42c-895a-46f7-a0e3-11b152970581 g.chr5:161116737G>T uc003lyu.2 + 5 963 c.625G>T c.(625-627)Gat>Tat p.D209Y GABRA6_uc003lyv.2_5'UTR NM_000811 NP_000802 Q16445 GBRA6_HUMAN Homo sapiens gamma-aminobutyric acid (GABA) A receptor, alpha 6 (GABRA6), mRNA. 209 gamma-aminobutyric acid signaling pathway cell junction|chloride channel complex|integral to plasma membrane|postsynaptic membrane benzodiazepine receptor activity|chloride channel activity p.D209N(2) breast(1)|central_nervous_system(2)|endometrium(6)|large_intestine(9)|liver(2)|lung(22)|ovary(7)|skin(6)|urinary_tract(2) 57 Renal(175;0.00259) Medulloblastoma(196;0.0208)|all_neural(177;0.0672) Kidney(164;7.83e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525) Alprazolam(DB00404)|Ethchlorvynol(DB00189)|Flunitrazepam(DB01544)|Flurazepam(DB00690)|Lorazepam(DB00186)|Meprobamate(DB00371)|Midazolam(DB00683) TCTCCAGTATGATCTGATTGG 0.378 TCGA Ovarian(5;0.080) ENPP5 59084 broad.mit.edu 37 6 46135819 46135819 + Missense_Mutation SNP C C T TCGA-19-2620-01A-01D-1495-08 TCGA-19-2620-10A-01D-1495-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6de41ac1-229b-40b9-a494-5588c284351d ede6d42c-895a-46f7-a0e3-11b152970581 g.chr6:46135819C>T uc003oxz.1 - 1 389 c.181G>A c.(181-183)Gtg>Atg p.V61M ENPP5_uc010jzc.1_Missense_Mutation_p.V61M|ENPP5_uc011dvz.1_Intron|ENPP5_uc003oya.1_Missense_Mutation_p.V61M NM_021572 NP_067547 Q9UJA9 ENPP5_HUMAN Homo sapiens ectonucleotide pyrophosphatase/phosphodiesterase 5 (putative) (ENPP5), mRNA. 61 extracellular region|integral to membrane hydrolase activity endometrium(3)|kidney(1)|large_intestine(3)|lung(4)|upper_aerodigestive_tract(1) 12 ACTTGCTTCACGTGAACACCA 0.348 LGSN 51557 broad.mit.edu 37 6 63991054 63991054 + Missense_Mutation SNP T T A TCGA-19-2620-01A-01D-1495-08 TCGA-19-2620-10A-01D-1495-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6de41ac1-229b-40b9-a494-5588c284351d ede6d42c-895a-46f7-a0e3-11b152970581 g.chr6:63991054T>A uc003peh.3 - 3 436 c.402A>T c.(400-402)gaA>gaT p.E134D LGSN_uc003pei.3_Missense_Mutation_p.E134D NM_016571 NP_057655 Q5TDP6 LGSN_HUMAN Homo sapiens lengsin, lens protein with glutamine synthetase domain (LGSN), transcript variant 1, mRNA. 134 glutamine biosynthetic process glutamate-ammonia ligase activity NS(1)|endometrium(2)|large_intestine(5)|lung(16)|prostate(4)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1) 34 L-Glutamic Acid(DB00142) TGTTATTCATTTCATTGTCCT 0.393 EPHA7 2045 broad.mit.edu 37 6 93956625 93956625 + Missense_Mutation SNP C C G TCGA-19-2620-01A-01D-1495-08 TCGA-19-2620-10A-01D-1495-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6de41ac1-229b-40b9-a494-5588c284351d ede6d42c-895a-46f7-a0e3-11b152970581 g.chr6:93956625C>G uc003poe.3 - 14 2852 c.2611G>C c.(2611-2613)Gat>Cat p.D871H EPHA7_uc003pof.3_Missense_Mutation_p.D866H|EPHA7_uc011eac.2_Missense_Mutation_p.D867H NM_004440 NP_004431 Q15375 EPHA7_HUMAN Homo sapiens EPH receptor A7 (EPHA7), mRNA. 871 Protein kinase. integral to plasma membrane ATP binding|ephrin receptor activity NS(1)|breast(1)|central_nervous_system(7)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(16)|lung(43)|ovary(8)|pancreas(1)|prostate(1)|skin(8)|stomach(1)|upper_aerodigestive_tract(13)|urinary_tract(1) 112 all_cancers(76;7.47e-10)|Acute lymphoblastic leukemia(125;1.88e-09)|all_hematologic(75;1.75e-07)|all_epithelial(107;3.6e-05)|Lung NSC(302;0.0368)|all_lung(197;0.0509)|Colorectal(196;0.142) BRCA - Breast invasive adenocarcinoma(108;0.0847) TGCCAACAATCCAACATTAGC 0.418 MAN1A1 4121 broad.mit.edu 37 6 119669897 119669897 + Missense_Mutation SNP C C G rs139302645 TCGA-19-2620-01A-01D-1495-08 TCGA-19-2620-10A-01D-1495-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6de41ac1-229b-40b9-a494-5588c284351d ede6d42c-895a-46f7-a0e3-11b152970581 g.chr6:119669897C>G uc003pym.1 - 1 776 c.334G>C c.(334-336)Gac>Cac p.D112H MAN1A1_uc010kei.2_Missense_Mutation_p.D112H NM_005907 NP_005898 P33908 MA1A1_HUMAN Homo sapiens mannosidase, alpha, class 1A, member 1 (MAN1A1), mRNA. 112 post-translational protein modification|protein N-linked glycosylation via asparagine endoplasmic reticulum|ER-Golgi intermediate compartment|Golgi membrane|integral to membrane|membrane fraction calcium ion binding|mannosyl-oligosaccharide 1,2-alpha-mannosidase activity central_nervous_system(1)|endometrium(2)|large_intestine(6)|lung(8)|ovary(2)|prostate(2)|skin(3) 24 all_epithelial(87;0.173) OV - Ovarian serous cystadenocarcinoma(136;0.0612)|GBM - Glioblastoma multiforme(226;0.0702)|all cancers(137;0.115) GCCTCCGGGTCCCCGGGTGCC 0.761 MED23 9439 broad.mit.edu 37 6 131929144 131929144 + Frame_Shift_Del DEL C C - TCGA-19-2620-01A-01D-1495-08 TCGA-19-2620-10A-01D-1495-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6de41ac1-229b-40b9-a494-5588c284351d ede6d42c-895a-46f7-a0e3-11b152970581 g.chr6:131929144delC uc003qcs.1 - 11 1319 c.1145delG c.(1144-1146)ggafs p.G382fs MED23_uc003qcq.3_Frame_Shift_Del_p.G388fs|MED23_uc011eca.1_Intron|MED23_uc003qct.1_Frame_Shift_Del_p.G388fs|MED23_uc011ecb.1_Non-coding_Transcript NM_004830 NP_004821 Q9ULK4 MED23_HUMAN Homo sapiens mediator complex subunit 23 (MED23), transcript variant 1, mRNA. 382 regulation of transcription from RNA polymerase II promoter|transcription initiation from RNA polymerase II promoter transcription factor complex protein binding|transcription coactivator activity NS(1)|breast(3)|central_nervous_system(1)|endometrium(1)|kidney(4)|large_intestine(12)|lung(15)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(2) 44 Breast(56;0.0753) GBM - Glioblastoma multiforme(226;0.0115)|OV - Ovarian serous cystadenocarcinoma(155;0.0608) CTGAATACTTCCAGAAATGAA 0.378 ECT2L 345930 broad.mit.edu 37 6 139183819 139183819 + Silent SNP G G A TCGA-19-2620-01A-01D-1495-08 TCGA-19-2620-10A-01D-1495-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6de41ac1-229b-40b9-a494-5588c284351d ede6d42c-895a-46f7-a0e3-11b152970581 g.chr6:139183819G>A uc003qif.2 + 10 1579 c.1254G>A c.(1252-1254)acG>acA p.T418T ECT2L_uc021zfx.1_Silent_p.T418T|ECT2L_uc011edq.1_Silent_p.T349T NM_001077706 NP_001181966 Q008S8 ECT2L_HUMAN Homo sapiens epithelial cell transforming sequence 2 oncogene-like (ECT2L), transcript variant 1, mRNA. 418 regulation of Rho protein signal transduction intracellular Rho guanyl-nucleotide exchange factor activity breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(7)|lung(12)|skin(1)|upper_aerodigestive_tract(1) 30 CGTTCTTTACGGCCCCCACTG 0.463 """N, Splice, Mis""" ETP ALL MAP3K4 4216 broad.mit.edu 37 6 161470034 161470034 + Missense_Mutation SNP A A G TCGA-19-2620-01A-01D-1495-08 TCGA-19-2620-10A-01D-1495-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6de41ac1-229b-40b9-a494-5588c284351d ede6d42c-895a-46f7-a0e3-11b152970581 g.chr6:161470034A>G uc003qtn.3 + 2 872 c.730A>G c.(730-732)Agg>Ggg p.R244G MAP3K4_uc010kkc.1_Missense_Mutation_p.R244G|MAP3K4_uc003qto.3_Missense_Mutation_p.R244G|MAP3K4_uc011efz.2_Non-coding_Transcript|MAP3K4_uc011ega.2_5'UTR NM_005922 NP_005913 Q9Y6R4 M3K4_HUMAN Homo sapiens mitogen-activated protein kinase kinase kinase 4 (MAP3K4), transcript variant 1, mRNA. 244 activation of MAPKK activity|JNK cascade|positive regulation of JUN kinase activity perinuclear region of cytoplasm ATP binding|MAP kinase kinase kinase activity|metal ion binding|protein binding breast(6)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(20)|lung(28)|ovary(3)|skin(2)|stomach(1) 77 Breast(66;0.000776)|Ovarian(120;0.0367)|Prostate(117;0.0771) OV - Ovarian serous cystadenocarcinoma(65;1.85e-18)|BRCA - Breast invasive adenocarcinoma(81;3.04e-05) GAAAAAAGACAGGGAGCAAAG 0.433 NPC1L1 29881 broad.mit.edu 37 7 44579249 44579249 + Silent SNP G G A rs148698796 TCGA-19-2620-01A-01D-1495-08 TCGA-19-2620-10A-01D-1495-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6de41ac1-229b-40b9-a494-5588c284351d ede6d42c-895a-46f7-a0e3-11b152970581 g.chr7:44579249G>A uc003tlb.3 - 1 803 c.747C>T c.(745-747)gaC>gaT p.D249D NPC1L1_uc011kbw.2_Silent_p.D249D|NPC1L1_uc003tlc.3_Silent_p.D249D|NPC1L1_uc003tld.3_Silent_p.D249D NM_013389 NP_037521 Q9UHC9 NPCL1_HUMAN Homo sapiens NPC1 (Niemann-Pick disease, type C1, gene)-like 1 (NPC1L1), transcript variant 1, mRNA. 249 cholesterol biosynthetic process|intestinal cholesterol absorption|lipoprotein metabolic process apical plasma membrane|cytoplasmic vesicle membrane|integral to membrane hedgehog receptor activity|protein binding breast(1)|central_nervous_system(2)|cervix(1)|endometrium(4)|large_intestine(7)|lung(27)|ovary(6)|prostate(2)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(2) 57 Ezetimibe(DB00973) TCGCCACGTCGTCACCTTGGG 0.632 EGFR 1956 broad.mit.edu 37 7 55233043 55233043 + Missense_Mutation SNP G G T rs139236063 TCGA-19-2620-01A-01D-1495-08 TCGA-19-2620-10A-01D-1495-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6de41ac1-229b-40b9-a494-5588c284351d ede6d42c-895a-46f7-a0e3-11b152970581 g.chr7:55233043G>T uc003tqk.3 + 14 2039 c.1793G>T c.(1792-1794)gGa>gTa p.G598V EGFR_uc003tqi.3_Missense_Mutation_p.G598V|EGFR_uc003tqj.3_Missense_Mutation_p.G598V|EGFR_uc022adm.1_Missense_Mutation_p.G598V|EGFR_uc010kzg.2_Missense_Mutation_p.G553V|EGFR_uc022adn.1_Missense_Mutation_p.G553V|EGFR_uc011kco.2_Missense_Mutation_p.G545V|EGFR_uc011kcp.1_Intron|EGFR_uc011kcq.1_Non-coding_Transcript|EGFR_uc003tqn.3_Non-coding_Transcript NM_005228 NP_005219 P00533 EGFR_HUMAN Homo sapiens epidermal growth factor receptor (EGFR), transcript variant 1, mRNA. 598 activation of phospholipase A2 activity by calcium-mediated signaling|activation of phospholipase C activity|axon guidance|cell proliferation|cell-cell adhesion|negative regulation of apoptosis|negative regulation of epidermal growth factor receptor signaling pathway|ossification|positive regulation of catenin import into nucleus|positive regulation of cell migration|positive regulation of cyclin-dependent protein kinase activity involved in G1/S|positive regulation of epithelial cell proliferation|positive regulation of MAP kinase activity|positive regulation of nitric oxide biosynthetic process|positive regulation of phosphorylation|positive regulation of protein kinase B signaling cascade|protein autophosphorylation|protein insertion into membrane|regulation of nitric-oxide synthase activity|regulation of peptidyl-tyrosine phosphorylation|response to stress|response to UV-A basolateral plasma membrane|endoplasmic reticulum membrane|endosome|extracellular space|Golgi membrane|integral to membrane|nuclear membrane|Shc-EGFR complex actin filament binding|ATP binding|double-stranded DNA binding|epidermal growth factor receptor activity|identical protein binding|MAP/ERK kinase kinase activity|protein heterodimerization activity|protein phosphatase binding|receptor signaling protein tyrosine kinase activity p.G598V(31)|p.A597T(1)|p.A597P(1) NS(2)|adrenal_gland(5)|biliary_tract(8)|bone(3)|breast(18)|central_nervous_system(106)|endometrium(26)|eye(3)|haematopoietic_and_lymphoid_tissue(9)|kidney(11)|large_intestine(85)|liver(2)|lung(13575)|oesophagus(21)|ovary(38)|pancreas(3)|peritoneum(11)|pleura(2)|prostate(35)|salivary_gland(11)|skin(9)|small_intestine(1)|soft_tissue(4)|stomach(41)|thymus(2)|thyroid(14)|upper_aerodigestive_tract(59)|urinary_tract(6) 14110 all_cancers(1;1.57e-46)|all_epithelial(1;5.62e-37)|Lung NSC(1;9.29e-25)|all_lung(1;4.39e-23)|Esophageal squamous(2;7.55e-08)|Breast(14;0.0318) GBM - Glioblastoma multiforme(1;0)|all cancers(1;2.19e-314)|Lung(13;4.65e-05)|LUSC - Lung squamous cell carcinoma(13;0.000168)|STAD - Stomach adenocarcinoma(5;0.00164)|Epithelial(13;0.0607) Cetuximab(DB00002)|Erlotinib(DB00530)|Gefitinib(DB00317)|Lapatinib(DB01259)|Lidocaine(DB00281)|Panitumumab(DB01269)|Trastuzumab(DB00072) TGCCCGGCAGGAGTCATGGGA 0.567 8 """A, O, Mis""" """glioma, NSCLC""" NSCLC Lung Cancer, Familial Clustering of TCGA GBM(3;<1E-08)|TSP Lung(4;<1E-08) CACNA2D1 781 broad.mit.edu 37 7 81598223 81598223 + Missense_Mutation SNP C C T TCGA-19-2620-01A-01D-1495-08 TCGA-19-2620-10A-01D-1495-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6de41ac1-229b-40b9-a494-5588c284351d ede6d42c-895a-46f7-a0e3-11b152970581 g.chr7:81598223C>T uc003uhr.1 - 28 2631 c.2375G>A c.(2374-2376)gGg>gAg p.G792E CACNA2D1_uc011kgy.1_Intron NM_000722 NP_000713 P54289 CA2D1_HUMAN Homo sapiens calcium channel, voltage-dependent, alpha 2/delta subunit 1 (CACNA2D1), mRNA. 804 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) AAGAAGTTTCCCTTGAATATA 0.284 CHMP4C 92421 broad.mit.edu 37 8 82644913 82644913 + Missense_Mutation SNP G G A TCGA-19-2620-01A-01D-1495-08 TCGA-19-2620-10A-01D-1495-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6de41ac1-229b-40b9-a494-5588c284351d ede6d42c-895a-46f7-a0e3-11b152970581 g.chr8:82644913G>A uc003ycl.3 + 0 226 c.52G>A c.(52-54)Gcc>Acc p.A18T NM_152284 NP_689497 Q96CF2 CHM4C_HUMAN Homo sapiens charged multivesicular body protein 4C (CHMP4C), mRNA. 18 Intramolecular interaction with C- terminus (By similarity). cellular membrane organization|endosome transport|protein transport cytosol|late endosome membrane protein binding NS(1)|breast(2)|endometrium(2)|large_intestine(1)|lung(1)|ovary(2)|skin(1) 10 TAAGAGCCGAGCCGCTCCCAG 0.587 WDYHV1 55093 broad.mit.edu 37 8 124453566 124453566 + Missense_Mutation SNP G G A TCGA-19-2620-01A-01D-1495-08 TCGA-19-2620-10A-01D-1495-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6de41ac1-229b-40b9-a494-5588c284351d ede6d42c-895a-46f7-a0e3-11b152970581 g.chr8:124453566G>A uc003yqn.1 + 5 654 c.529G>A c.(529-531)Gat>Aat p.D177N WDYHV1_uc011lij.1_Missense_Mutation_p.D117N NM_018024 NP_060494 Q96HA8 NTAQ1_HUMAN Homo sapiens WDYHV motif containing 1 (WDYHV1), mRNA. 177 protein modification process cytosol|nucleus protein binding|protein N-terminal glutamine amidohydrolase activity p.N176S(1) endometrium(2)|kidney(1)|large_intestine(1)|lung(7)|ovary(1)|prostate(1)|skin(1)|stomach(3) 17 GAACCTGAACGATTTCATCAG 0.373 SLC45A4 57210 broad.mit.edu 37 8 142228261 142228261 + Missense_Mutation SNP G G A TCGA-19-2620-01A-01D-1495-08 TCGA-19-2620-10A-01D-1495-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6de41ac1-229b-40b9-a494-5588c284351d ede6d42c-895a-46f7-a0e3-11b152970581 g.chr8:142228261G>A uc003ywd.1 - 3 1633 c.1325C>T c.(1324-1326)aCg>aTg p.T442M SLC45A4_uc003ywc.1_Missense_Mutation_p.T442M|SLC45A4_uc010meq.1_Missense_Mutation_p.T440M NM_001080431 NP_001073900 Q5BKX6 S45A4_HUMAN Homo sapiens solute carrier family 45, member 4 (SLC45A4), mRNA. 493 transport integral to membrane breast(1)|central_nervous_system(1)|endometrium(5)|kidney(2)|large_intestine(6)|lung(9)|ovary(3)|prostate(2)|skin(1)|upper_aerodigestive_tract(1) 31 all_cancers(97;1.52e-15)|all_epithelial(106;2.92e-14)|Lung NSC(106;1.23e-05)|all_lung(105;1.75e-05)|Ovarian(258;0.01)|Acute lymphoblastic leukemia(118;0.155) BRCA - Breast invasive adenocarcinoma(115;0.0493) CAGGCGCACCGTGGTCTCGCC 0.682 RHPN1 114822 broad.mit.edu 37 8 144462083 144462083 + Missense_Mutation SNP G G A TCGA-19-2620-01A-01D-1495-08 TCGA-19-2620-10A-01D-1495-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6de41ac1-229b-40b9-a494-5588c284351d ede6d42c-895a-46f7-a0e3-11b152970581 g.chr8:144462083G>A uc003yyb.3 + 8 1163 c.1030G>A c.(1030-1032)Gtg>Atg p.V344M NM_052924 NP_443156 Q8TCX5 RHPN1_HUMAN Homo sapiens rhophilin, Rho GTPase binding protein 1 (RHPN1), mRNA. 344 BRO1. signal transduction intracellular endometrium(1)|large_intestine(1)|lung(7) 9 all_cancers(97;7.39e-11)|all_epithelial(106;5.44e-09)|Lung NSC(106;0.000167)|all_lung(105;0.000459)|Ovarian(258;0.0212)|Acute lymphoblastic leukemia(118;0.155) Colorectal(110;0.107)|BRCA - Breast invasive adenocarcinoma(115;0.156) GACTGCCCTGGTGCATGTCAA 0.657 TAF1L 138474 broad.mit.edu 37 9 32633610 32633610 + Missense_Mutation SNP T T A TCGA-19-2620-01A-01D-1495-08 TCGA-19-2620-10A-01D-1495-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6de41ac1-229b-40b9-a494-5588c284351d ede6d42c-895a-46f7-a0e3-11b152970581 g.chr9:32633610T>A uc003zrg.1 - 0 2058 c.1968A>T c.(1966-1968)caA>caT p.Q656H AX747113_uc003zrh.1_Non-coding_Transcript NM_153809 NP_722516 Q8IZX4 TAF1L_HUMAN Homo sapiens TAF1 RNA polymerase II, TATA box binding protein (TBP)-associated factor, 210kDa-like (TAF1L), mRNA. 656 male meiosis|positive regulation of transcription, DNA-dependent|regulation of transcription from RNA polymerase II promoter|transcription initiation, DNA-dependent transcription factor TFIID complex DNA binding|histone acetyltransferase activity|protein serine/threonine kinase activity|TBP-class protein binding breast(6)|central_nervous_system(4)|endometrium(14)|kidney(11)|large_intestine(32)|liver(2)|lung(68)|ovary(2)|pancreas(2)|prostate(7)|skin(9)|stomach(1)|upper_aerodigestive_tract(1) 159 LUSC - Lung squamous cell carcinoma(29;0.0181) GBM - Glioblastoma multiforme(74;0.00301) TTAGCAAAGGTTGGACTGAAT 0.502 PALM2-AKAP2 445815 broad.mit.edu 37 9 112899196 112899196 + Missense_Mutation SNP C C T TCGA-19-2620-01A-01D-1495-08 TCGA-19-2620-10A-01D-1495-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6de41ac1-229b-40b9-a494-5588c284351d ede6d42c-895a-46f7-a0e3-11b152970581 g.chr9:112899196C>T uc004bei.2 + 8 2260 c.2068C>T c.(2068-2070)Cgc>Tgc p.R690C PALM2-AKAP2_uc004bej.4_Missense_Mutation_p.R458C|PALM2-AKAP2_uc004bek.4_Missense_Mutation_p.R458C|PALM2-AKAP2_uc004bel.1_Missense_Mutation_p.R268C|PALM2-AKAP2_uc011lwi.2_Missense_Mutation_p.R316C|PALM2-AKAP2_uc004bem.3_Missense_Mutation_p.R316C|PALM2-AKAP2_uc010mtw.1_Missense_Mutation_p.R276C|PALM2-AKAP2_uc011lwj.2_Missense_Mutation_p.R227C|PALM2-AKAP2_uc004ben.3_Missense_Mutation_p.R227C NM_001136562 NP_001130034 Q9Y2D5 AKAP2_HUMAN Homo sapiens A kinase (PRKA) anchor protein 2 (AKAP2), transcript variant 2, mRNA. 227 enzyme binding breast(1)|central_nervous_system(2)|endometrium(4)|kidney(2)|large_intestine(7)|lung(18)|ovary(4)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1) 44 AGAGCTCATCCGCAGCCAGGC 0.512 PMPCA 23203 broad.mit.edu 37 9 139306464 139306464 + Silent SNP G G A TCGA-19-2620-01A-01D-1495-08 TCGA-19-2620-10A-01D-1495-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6de41ac1-229b-40b9-a494-5588c284351d ede6d42c-895a-46f7-a0e3-11b152970581 g.chr9:139306464G>A uc004chl.3 + 1 92 c.87G>A c.(85-87)gcG>gcA p.A29A SDCCAG3_uc004chj.3_5'Flank|SDCCAG3_uc004chk.3_5'Flank|SDCCAG3_uc004chi.3_5'Flank|PMPCA_uc011mdy.1_Silent_p.A29A|PMPCA_uc010nbk.2_Non-coding_Transcript|PMPCA_uc011mdz.2_5'UTR|PMPCA_uc010nbl.3_5'UTR NM_015160 NP_055975 Q10713 MPPA_HUMAN Homo sapiens peptidase (mitochondrial processing) alpha (PMPCA), nuclear gene encoding mitochondrial protein, mRNA. 29 proteolysis mitochondrial inner membrane|mitochondrial matrix metalloendopeptidase activity|zinc ion binding endometrium(3)|kidney(1)|large_intestine(1)|lung(6)|ovary(2)|urinary_tract(1) 14 Myeloproliferative disorder(178;0.0821) OV - Ovarian serous cystadenocarcinoma(145;9.3e-06)|Epithelial(140;1.15e-05) GACCTCCTGCGTACAGACGGT 0.493 KLHL13 90293 broad.mit.edu 37 X 117043736 117043736 + Silent SNP C C T TCGA-19-2620-01A-01D-1495-08 TCGA-19-2620-10A-01D-1495-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6de41ac1-229b-40b9-a494-5588c284351d ede6d42c-895a-46f7-a0e3-11b152970581 g.chrX:117043736C>T uc011mtp.2 - 5 1036 c.903G>A c.(901-903)acG>acA p.T301T KLHL13_uc004eqk.3_Silent_p.T247T|KLHL13_uc004eql.3_Silent_p.T298T|KLHL13_uc011mtn.2_Silent_p.T138T|KLHL13_uc011mto.2_Silent_p.T292T|KLHL13_uc011mtq.2_Silent_p.T282T|KLHL13_uc004eqm.3_Silent_p.T256T|KLHL13_uc022cde.1_Silent_p.T282T NM_001168299 NP_001161775 Q9P2N7 KLH13_HUMAN Homo sapiens kelch-like 13 (Drosophila) (KLHL13), transcript variant 2, mRNA. 298 cytokinesis|mitosis|protein ubiquitination Cul3-RING ubiquitin ligase complex NS(1)|breast(3)|cervix(1)|endometrium(6)|kidney(1)|large_intestine(6)|lung(9)|prostate(2)|skin(3)|stomach(1)|urinary_tract(1) 34 TGAAATCCACCGTTTGCACGT 0.423