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 FBXO44 93611 broad.mit.edu 37 1 11716011 11716011 + Missense_Mutation SNP T T C TCGA-06-0939-01A-01D-1353-08 TCGA-06-0939-10A-01D-1353-08 Untested Somatic Phase_I WXS none Illumina GAIIx ca1a0aa7-2b4e-4479-966f-9de854b9dddc 6a8ffcc4-f3eb-4430-a734-8a2a46fbfd95 g.chr1:11716011T>C uc010oar.2 + 1 245 c.119T>C c.(118-120)cTc>cCc p.L40P FBXO2_uc001asj.3_5'Flank|FBXO2_uc009vna.3_5'Flank|FBXO2_uc009vnb.1_5'Flank|FBXO44_uc001ask.3_Missense_Mutation_p.L40P|FBXO44_uc010oaq.1_Missense_Mutation_p.L40P|FBXO44_uc010oas.2_5'UTR|FBXO44_uc001asm.3_Missense_Mutation_p.L40P|FBXO44_uc001asl.3_Missense_Mutation_p.L40P|FBXO44_uc001asn.3_Missense_Mutation_p.L40P NM_183413 NP_904320 Q9H4M3 FBX44_HUMAN Homo sapiens F-box protein 44 (FBXO44), transcript variant 3, mRNA. 40 F-box. protein catabolic process SCF ubiquitin ligase complex protein binding kidney(1)|large_intestine(1)|lung(3)|ovary(1)|pancreas(1)|prostate(1) 8 Ovarian(185;0.249) Lung NSC(185;4.15e-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;5.41e-06)|COAD - Colon adenocarcinoma(227;0.000255)|BRCA - Breast invasive adenocarcinoma(304;0.0003)|Kidney(185;0.000758)|KIRC - Kidney renal clear cell carcinoma(229;0.00258)|STAD - Stomach adenocarcinoma(313;0.00727)|READ - Rectum adenocarcinoma(331;0.0649) TGGCGGGACCTCATCGACCTC 0.632 NFIA 4774 broad.mit.edu 37 1 61869812 61869812 + Missense_Mutation SNP C C T TCGA-06-0939-01A-01D-1353-08 TCGA-06-0939-10A-01D-1353-08 Untested Somatic Phase_I WXS none Illumina GAIIx ca1a0aa7-2b4e-4479-966f-9de854b9dddc 6a8ffcc4-f3eb-4430-a734-8a2a46fbfd95 g.chr1:61869812C>T uc010oos.2 + 8 1329 c.1247C>T c.(1246-1248)cCg>cTg p.P416L NFIA_uc001czy.3_Missense_Mutation_p.P363L|NFIA_uc001czw.3_Missense_Mutation_p.P371L|NFIA_uc001czv.3_Missense_Mutation_p.P371L|NFIA_uc001czx.3_Missense_Mutation_p.P19L|NFIA_uc009wae.3_5'Flank NM_001145512 NP_001138984 Q12857 NFIA_HUMAN Homo sapiens nuclear factor I/A (NFIA), transcript variant 4, mRNA. 371 DNA replication|viral genome replication cell junction|nucleus DNA binding|sequence-specific DNA binding transcription factor activity|transcription factor binding NFIA/EHF(2) endometrium(1)|kidney(2)|large_intestine(8)|lung(20)|pancreas(1)|prostate(1)|skin(1) 34 CTTCATTTCCCGACATCACCC 0.493 LRRC8C 84230 broad.mit.edu 37 1 90178321 90178321 + Missense_Mutation SNP C C A TCGA-06-0939-01A-01D-1353-08 TCGA-06-0939-10A-01D-1353-08 Untested Somatic Phase_I WXS none Illumina GAIIx ca1a0aa7-2b4e-4479-966f-9de854b9dddc 6a8ffcc4-f3eb-4430-a734-8a2a46fbfd95 g.chr1:90178321C>A uc001dnl.4 + 2 434 c.192C>A c.(190-192)aaC>aaA p.N64K NM_032270 NP_115646 Q8TDW0 LRC8C_HUMAN Homo sapiens leucine rich repeat containing 8 family, member C (LRRC8C), mRNA. 64 endoplasmic reticulum membrane|integral to membrane breast(1)|central_nervous_system(1)|large_intestine(5)|lung(10)|ovary(3)|pancreas(1)|prostate(1)|skin(5)|urinary_tract(1) 28 all_lung(203;0.126) all cancers(265;0.00756)|Epithelial(280;0.0313) CTGCTCAGAACCACTCTTCCC 0.433 FLG 2312 broad.mit.edu 37 1 152287099 152287099 + Missense_Mutation SNP G G T TCGA-06-0939-01A-01D-1353-08 TCGA-06-0939-10A-01D-1353-08 Untested Somatic Phase_I WXS none Illumina GAIIx ca1a0aa7-2b4e-4479-966f-9de854b9dddc 6a8ffcc4-f3eb-4430-a734-8a2a46fbfd95 g.chr1:152287099G>T uc001ezu.1 - 2 299 c.263C>A c.(262-264)tCt>tAt p.S88Y AK056431_uc001ezv.3_Splice_Site NM_002016 NP_002007 P20930 FILA_HUMAN Homo sapiens filaggrin (FLG), mRNA. 88 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) TTTTCTGGTAGACTCATAATA 0.358 Ichthyosis PBXIP1 57326 broad.mit.edu 37 1 154918742 154918742 + Silent SNP T T G TCGA-06-0939-01A-01D-1353-08 TCGA-06-0939-10A-01D-1353-08 Untested Somatic Phase_I WXS none Illumina GAIIx ca1a0aa7-2b4e-4479-966f-9de854b9dddc 6a8ffcc4-f3eb-4430-a734-8a2a46fbfd95 g.chr1:154918742T>G uc001ffr.3 - 9 1467 c.1408A>C c.(1408-1410)Agg>Cgg p.R470R PBXIP1_uc001ffs.3_Silent_p.R441R|PBXIP1_uc010pep.2_Silent_p.R315R NM_020524 NP_065385 Q96AQ6 PBIP1_HUMAN Homo sapiens pre-B-cell leukemia homeobox interacting protein 1 (PBXIP1), mRNA. 470 cell differentiation|multicellular organismal development|negative regulation of transcription, DNA-dependent cytosol|microtubule|nucleus protein binding|transcription corepressor activity breast(1)|kidney(2)|large_intestine(6)|lung(13)|prostate(1)|urinary_tract(1) 24 all_epithelial(22;4.9e-30)|all_lung(78;4.1e-28)|all_hematologic(923;0.0359)|Hepatocellular(266;0.0877)|all_neural(408;0.245) BRCA - Breast invasive adenocarcinoma(34;0.00034) CTCCACTCCCTAGAATTCTGG 0.567 SPTA1 6708 broad.mit.edu 37 1 158615169 158615169 + Missense_Mutation SNP G G A TCGA-06-0939-01A-01D-1353-08 TCGA-06-0939-10A-01D-1353-08 Untested Somatic Phase_I WXS none Illumina GAIIx ca1a0aa7-2b4e-4479-966f-9de854b9dddc 6a8ffcc4-f3eb-4430-a734-8a2a46fbfd95 g.chr1:158615169G>A uc001fst.1 - 28 4202 c.4003C>T c.(4003-4005)Cgt>Tgt p.R1335C NM_003126 NP_003117 P02549 SPTA1_HUMAN Homo sapiens spectrin, alpha, erythrocytic 1 (elliptocytosis 2) (SPTA1), mRNA. 1335 actin filament capping|actin filament organization|axon guidance|regulation of cell shape cytosol|intrinsic to internal side of plasma membrane|spectrin|spectrin-associated cytoskeleton actin filament binding|calcium ion binding|structural constituent of cytoskeleton p.R1335G(4) NS(3)|breast(7)|cervix(1)|endometrium(22)|kidney(9)|large_intestine(29)|liver(2)|lung(183)|ovary(5)|prostate(18)|skin(11)|soft_tissue(1)|stomach(1)|upper_aerodigestive_tract(9)|urinary_tract(6) 307 all_hematologic(112;0.0378) ATGTCAGCACGGTGCTCCTGT 0.488 DCAF8 50717 broad.mit.edu 37 1 160250017 160250017 + Missense_Mutation SNP C C T TCGA-06-0939-01A-01D-1353-08 TCGA-06-0939-10A-01D-1353-08 Untested Somatic Phase_I WXS none Illumina GAIIx ca1a0aa7-2b4e-4479-966f-9de854b9dddc 6a8ffcc4-f3eb-4430-a734-8a2a46fbfd95 g.chr1:160250017C>T uc010pjc.1 - 3 445 c.173G>A c.(172-174)aGt>aAt p.S58N DCAF8_uc001fvs.2_Missense_Mutation_p.S205N|DCAF8_uc021pbq.1_Missense_Mutation_p.S205N|DCAF8_uc010pje.1_Non-coding_Transcript|DCAF8_uc001fvt.2_Missense_Mutation_p.S115N NM_015726 NP_056541 Q5TAQ9 DCAF8_HUMAN Homo sapiens DDB1 and CUL4 associated factor 8 (DCAF8), transcript variant 1, mRNA. 142 CUL4 RING ubiquitin ligase complex protein binding cervix(1)|endometrium(4)|kidney(2)|large_intestine(6)|lung(16)|skin(3)|upper_aerodigestive_tract(1) 33 TTCCCGATGACTCTGCAACCA 0.418 PAPPA2 60676 broad.mit.edu 37 1 176563773 176563773 + Missense_Mutation SNP G G A TCGA-06-0939-01A-01D-1353-08 TCGA-06-0939-10A-01D-1353-08 Untested Somatic Phase_I WXS none Illumina GAIIx ca1a0aa7-2b4e-4479-966f-9de854b9dddc 6a8ffcc4-f3eb-4430-a734-8a2a46fbfd95 g.chr1:176563773G>A uc001gkz.3 + 2 2197 c.1033G>A c.(1033-1035)Gac>Aac p.D345N PAPPA2_uc001gky.1_Missense_Mutation_p.D345N|PAPPA2_uc009www.3_Non-coding_Transcript NM_020318 NP_064714 Q9BXP8 PAPP2_HUMAN Homo sapiens pappalysin 2 (PAPPA2), transcript variant 1, mRNA. 345 cell differentiation|proteolysis|regulation of cell growth extracellular region|intracellular|membrane metalloendopeptidase activity|zinc ion binding NS(3)|breast(3)|central_nervous_system(7)|cervix(5)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(19)|lung(136)|ovary(7)|pancreas(1)|prostate(4)|skin(10)|upper_aerodigestive_tract(8)|urinary_tract(1) 226 CCTCTGCACCGACCGCGTGAA 0.592 ABL2 27 broad.mit.edu 37 1 179090932 179090932 + Missense_Mutation SNP T T C TCGA-06-0939-01A-01D-1353-08 TCGA-06-0939-10A-01D-1353-08 Untested Somatic Phase_I WXS none Illumina GAIIx ca1a0aa7-2b4e-4479-966f-9de854b9dddc 6a8ffcc4-f3eb-4430-a734-8a2a46fbfd95 g.chr1:179090932T>C uc001gmj.4 - 4 1045 c.758A>G c.(757-759)gAt>gGt p.D253G ABL2_uc010pnf.2_Missense_Mutation_p.D253G|ABL2_uc010png.2_Missense_Mutation_p.D232G|ABL2_uc010pnh.2_Missense_Mutation_p.D232G|ABL2_uc009wxe.3_Missense_Mutation_p.D232G|ABL2_uc001gmg.4_Missense_Mutation_p.D238G|ABL2_uc001gmi.4_Missense_Mutation_p.D238G|ABL2_uc010pne.2_Missense_Mutation_p.D217G|ABL2_uc001gmk.3_Missense_Mutation_p.D217G|ABL2_uc009wxf.2_Missense_Mutation_p.D238G NM_007314 NP_009298 P42684 ABL2_HUMAN Homo sapiens v-abl Abelson murine leukemia viral oncogene homolog 2 (ABL2), transcript variant b, mRNA. 253 SH2. axon guidance|cell adhesion|peptidyl-tyrosine phosphorylation|positive regulation of oxidoreductase activity|signal transduction cytoskeleton|cytosol ATP binding|magnesium ion binding|manganese ion binding|non-membrane spanning protein tyrosine kinase activity|protein binding breast(8)|central_nervous_system(1)|endometrium(7)|kidney(1)|large_intestine(9)|lung(32)|ovary(3)|prostate(2)|skin(1)|upper_aerodigestive_tract(1) 65 Adenosine triphosphate(DB00171)|Dasatinib(DB01254) CACCAGCCCATCAGCCACTGT 0.498 T ETV6 AML IL10 3586 broad.mit.edu 37 1 206942020 206942020 + Silent SNP G G A TCGA-06-0939-01A-01D-1353-08 TCGA-06-0939-10A-01D-1353-08 Untested Somatic Phase_I WXS none Illumina GAIIx ca1a0aa7-2b4e-4479-966f-9de854b9dddc 6a8ffcc4-f3eb-4430-a734-8a2a46fbfd95 g.chr1:206942020G>A uc001hen.1 - 4 557 c.498C>T c.(496-498)aaC>aaT p.N166N NM_000572 NP_000563 P22301 IL10_HUMAN Homo sapiens interleukin 10 (IL10), mRNA. 166 anti-apoptosis|B cell differentiation|B cell proliferation|cytoplasmic sequestering of NF-kappaB|inflammatory response|leukocyte chemotaxis|negative regulation of B cell proliferation|negative regulation of cytokine secretion involved in immune response|negative regulation of interferon-alpha biosynthetic process|negative regulation of interleukin-6 production|negative regulation of membrane protein ectodomain proteolysis|negative regulation of MHC class II biosynthetic process|negative regulation of T cell proliferation|positive regulation of B cell apoptosis|positive regulation of cytokine secretion|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of transcription, DNA-dependent|receptor biosynthetic process|regulation of isotype switching|response to glucocorticoid stimulus|type 2 immune response extracellular space cytokine activity|growth factor activity|interleukin-10 receptor binding endometrium(1)|large_intestine(6)|lung(4)|prostate(1) 12 Breast(84;0.183) BRCA - Breast invasive adenocarcinoma(75;0.211) CTTCTATGTAGTTGATGAAGA 0.413 CD46 4179 broad.mit.edu 37 1 207930974 207930974 + Missense_Mutation SNP A A G TCGA-06-0939-01A-01D-1353-08 TCGA-06-0939-10A-01D-1353-08 Untested Somatic Phase_I WXS none Illumina GAIIx ca1a0aa7-2b4e-4479-966f-9de854b9dddc 6a8ffcc4-f3eb-4430-a734-8a2a46fbfd95 g.chr1:207930974A>G uc001hgc.3 + 2 551 c.376A>G c.(376-378)Att>Gtt p.I126V CD46_uc001hgg.3_Missense_Mutation_p.I126V|CD46_uc001hgh.3_Missense_Mutation_p.I126V|CD46_uc001hgi.3_Missense_Mutation_p.I126V|CD46_uc001hgj.3_Missense_Mutation_p.I126V|CD46_uc001hgm.3_Missense_Mutation_p.I126V|CD46_uc001hgl.3_Missense_Mutation_p.I126V|CD46_uc001hgp.3_Missense_Mutation_p.I126V NM_002389 NP_002380 P15529 MCP_HUMAN Homo sapiens CD46 molecule, complement regulatory protein (CD46), transcript variant a, mRNA. 126 Sushi 2. complement activation, classical pathway|innate immune response|interspecies interaction between organisms|single fertilization inner acrosomal membrane|integral to plasma membrane protein binding|receptor activity breast(2)|central_nervous_system(1)|endometrium(1)|large_intestine(7)|lung(6)|prostate(1)|skin(1) 19 GATGCACTTTATTTGTAATGA 0.363 CD46 4179 broad.mit.edu 37 1 207934671 207934671 + Missense_Mutation SNP G G T TCGA-06-0939-01A-01D-1353-08 TCGA-06-0939-10A-01D-1353-08 Untested Somatic Phase_I WXS none Illumina GAIIx ca1a0aa7-2b4e-4479-966f-9de854b9dddc 6a8ffcc4-f3eb-4430-a734-8a2a46fbfd95 g.chr1:207934671G>T uc001hgc.3 + 4 728 c.553G>T c.(553-555)Gat>Tat p.D185Y CD46_uc001hgg.3_Missense_Mutation_p.D185Y|CD46_uc001hgh.3_Missense_Mutation_p.D185Y|CD46_uc001hgi.3_Missense_Mutation_p.D185Y|CD46_uc001hgj.3_Missense_Mutation_p.D185Y|CD46_uc001hgm.3_Missense_Mutation_p.D185Y|CD46_uc001hgl.3_Missense_Mutation_p.D185Y|CD46_uc001hgp.3_Missense_Mutation_p.D185Y NM_002389 NP_002380 P15529 MCP_HUMAN Homo sapiens CD46 molecule, complement regulatory protein (CD46), transcript variant a, mRNA. 185 Sushi 3. complement activation, classical pathway|innate immune response|interspecies interaction between organisms|single fertilization inner acrosomal membrane|integral to plasma membrane protein binding|receptor activity p.D185G(1) breast(2)|central_nervous_system(1)|endometrium(1)|large_intestine(7)|lung(6)|prostate(1)|skin(1) 19 TGAGTATCTTGATGCAGTAAC 0.373 SVIL 6840 broad.mit.edu 37 10 29776136 29776136 + Missense_Mutation SNP A A G TCGA-06-0939-01A-01D-1353-08 TCGA-06-0939-10A-01D-1353-08 Untested Somatic Phase_I WXS none Illumina GAIIx ca1a0aa7-2b4e-4479-966f-9de854b9dddc 6a8ffcc4-f3eb-4430-a734-8a2a46fbfd95 g.chr10:29776136A>G uc001iut.1 - 23 5194 c.4441T>C c.(4441-4443)Ttc>Ctc p.F1481L LOC387647_uc001iuq.1_Non-coding_Transcript|SVIL_uc010qdw.1_Missense_Mutation_p.F395L|SVIL_uc001iuu.1_Missense_Mutation_p.F1055L|SVIL_uc009xlc.2_Missense_Mutation_p.F273L NM_021738 NP_068506 O95425 SVIL_HUMAN Homo sapiens supervillin (SVIL), transcript variant 2, mRNA. 1481 Interaction with NEB. cytoskeleton organization|skeletal muscle tissue development cell junction|costamere|invadopodium|nucleus|podosome actin filament binding breast(1)|central_nervous_system(3)|cervix(1)|endometrium(17)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(24)|lung(35)|ovary(8)|prostate(2)|skin(4)|stomach(7)|upper_aerodigestive_tract(2)|urinary_tract(2) 112 Breast(68;0.103) ACCCACAGGAAGCAGCAGTGG 0.517 C10orf71 118461 broad.mit.edu 37 10 50532018 50532018 + Silent SNP C C T TCGA-06-0939-01A-01D-1353-08 TCGA-06-0939-10A-01D-1353-08 Untested Somatic Phase_I WXS none Illumina GAIIx ca1a0aa7-2b4e-4479-966f-9de854b9dddc 6a8ffcc4-f3eb-4430-a734-8a2a46fbfd95 g.chr10:50532018C>T uc021pqb.1 + 0 1428 c.1428C>T c.(1426-1428)aaC>aaT p.N476N C10orf71_uc021pqa.1_Silent_p.N475N|C10orf71_uc021pqc.1_Silent_p.N476N NM_001135196 NP_001128668 Q711Q0 CJ071_HUMAN Homo sapiens chromosome 10 open reading frame 71 (C10orf71), transcript variant 1, mRNA. 476 endometrium(1) 1 GACAGCTAAACGGATACCAAG 0.572 PTEN 5728 broad.mit.edu 37 10 89717672 89717672 + Nonsense_Mutation SNP C C T rs121909219 TCGA-06-0939-01A-01D-1353-08 TCGA-06-0939-10A-01D-1353-08 Untested Somatic Phase_I WXS none Illumina GAIIx ca1a0aa7-2b4e-4479-966f-9de854b9dddc 6a8ffcc4-f3eb-4430-a734-8a2a46fbfd95 g.chr10:89717672C>T uc001kfb.3 + 6 1729 c.697C>T c.(697-699)Cga>Tga p.R233* PTEN_uc021pvw.1_Non-coding_Transcript NM_000314 NP_000305 P60484 PTEN_HUMAN Homo sapiens phosphatase and tensin homolog (PTEN), mRNA. 233 C2 tensin-type. activation of mitotic anaphase-promoting complex activity|apoptosis|canonical Wnt receptor signaling pathway|cell proliferation|central nervous system development|induction of apoptosis|inositol phosphate dephosphorylation|negative regulation of cell migration|negative regulation of cyclin-dependent protein kinase activity involved in G1/S|negative regulation of focal adhesion assembly|negative regulation of G1/S transition of mitotic cell cycle|negative regulation of protein kinase B signaling cascade|negative regulation of protein phosphorylation|nerve growth factor receptor signaling pathway|phosphatidylinositol dephosphorylation|phosphatidylinositol-mediated signaling|positive regulation of protein ubiquitination involved in ubiquitin-dependent protein catabolic process|positive regulation of sequence-specific DNA binding transcription factor activity|protein stabilization|regulation of neuron projection development|T cell receptor signaling pathway cytosol|internal side of plasma membrane|PML body anaphase-promoting complex binding|enzyme binding|inositol-1,3,4,5-tetrakisphosphate 3-phosphatase activity|lipid binding|magnesium ion binding|PDZ domain binding|phosphatidylinositol-3,4,5-trisphosphate 3-phosphatase activity|phosphatidylinositol-3,4-bisphosphate 3-phosphatase activity|phosphatidylinositol-3-phosphatase activity|protein serine/threonine phosphatase activity|protein tyrosine phosphatase activity|protein tyrosine/serine/threonine phosphatase activity p.R233*(163)|p.0?(37)|p.R233fs*10(9)|p.R55fs*1(5)|p.R233fs*23(3)|p.N212fs*1(2)|p.Y27fs*1(2)|p.R233fs*12(2)|p.R233fs*20(2)|p.R233fs*25(2)|p.R233R(2)|p.G165_*404del(1)|p.?(1)|p.R233fs*13(1)|p.(T232)fs(1)|p.T232fs*24(1)|p.G165_K342del(1)|p.T232fs*14(1) NS(28)|autonomic_ganglia(2)|biliary_tract(6)|bone(5)|breast(92)|central_nervous_system(676)|cervix(26)|endometrium(1068)|eye(8)|haematopoietic_and_lymphoid_tissue(137)|kidney(24)|large_intestine(98)|liver(20)|lung(91)|meninges(2)|oesophagus(2)|ovary(82)|pancreas(6)|prostate(129)|salivary_gland(5)|skin(127)|soft_tissue(19)|stomach(30)|testis(1)|thyroid(29)|upper_aerodigestive_tract(29)|urinary_tract(12)|vulva(17) 2771 all_cancers(4;3.61e-31)|all_epithelial(4;3.96e-23)|Prostate(4;8.12e-23)|Breast(4;0.000111)|Melanoma(5;0.00146)|all_hematologic(4;0.00227)|Colorectal(252;0.00494)|all_neural(4;0.00513)|Acute lymphoblastic leukemia(4;0.0116)|Glioma(4;0.0274)|all_lung(38;0.132) KIRC - Kidney renal clear cell carcinoma(1;0.214) UCEC - Uterine corpus endometrioid carcinoma (6;0.000228)|all cancers(1;4.16e-84)|GBM - Glioblastoma multiforme(1;7.77e-49)|Epithelial(1;7.67e-41)|OV - Ovarian serous cystadenocarcinoma(1;6.22e-15)|BRCA - Breast invasive adenocarcinoma(1;1.1e-06)|Lung(2;3.18e-06)|Colorectal(12;4.88e-06)|LUSC - Lung squamous cell carcinoma(2;4.97e-06)|COAD - Colon adenocarcinoma(12;1.13e-05)|Kidney(1;0.000288)|KIRC - Kidney renal clear cell carcinoma(1;0.00037)|STAD - Stomach adenocarcinoma(243;0.218) AGGACCCACACGACGGGAAGA 0.423 R233*(HEC59_ENDOMETRIUM)|R233*(JHUEM1_ENDOMETRIUM)|R233*(NCIH1155_LUNG)|R233*(SF295_CENTRAL_NERVOUS_SYSTEM)|R233*(SW1783_CENTRAL_NERVOUS_SYSTEM) 31 """D, Mis, N, F, S""" """glioma, prostate, endometrial""" """harmartoma, glioma, prostate, endometrial""" Proteus syndrome;Juvenile Polyposis;Hereditary Mixed Polyposis Syndrome type 1;Cowden syndrome;Bannayan-Riley-Ruvalcaba syndrome HNSCC(9;0.0022)|TCGA GBM(2;<1E-08)|TSP Lung(26;0.18) MICAL2 9645 broad.mit.edu 37 11 12244171 12244171 + Missense_Mutation SNP C C A TCGA-06-0939-01A-01D-1353-08 TCGA-06-0939-10A-01D-1353-08 Untested Somatic Phase_I WXS none Illumina GAIIx ca1a0aa7-2b4e-4479-966f-9de854b9dddc 6a8ffcc4-f3eb-4430-a734-8a2a46fbfd95 g.chr11:12244171C>A uc001mjz.3 + 10 1618 c.1330C>A c.(1330-1332)Ctc>Atc p.L444I MICAL2_uc010rch.1_Missense_Mutation_p.L444I|MICAL2_uc001mka.3_Missense_Mutation_p.L444I|MICAL2_uc010rci.2_Missense_Mutation_p.L444I|MICAL2_uc001mkb.3_Missense_Mutation_p.L444I|MICAL2_uc001mkc.3_Missense_Mutation_p.L444I|MICAL2_uc001mkd.3_Missense_Mutation_p.L273I|MICAL2_uc010rcj.2_5'UTR NM_014632 NP_055447 O94851 MICA2_HUMAN Homo sapiens microtubule associated monoxygenase, calponin and LIM domain containing 2 (MICAL2), mRNA. 444 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) CAGGGAAAGTCTCTACCGGCT 0.567 OR5M10 390167 broad.mit.edu 37 11 56344526 56344526 + Silent SNP C C T TCGA-06-0939-01A-01D-1353-08 TCGA-06-0939-10A-01D-1353-08 Untested Somatic Phase_I WXS none Illumina GAIIx ca1a0aa7-2b4e-4479-966f-9de854b9dddc 6a8ffcc4-f3eb-4430-a734-8a2a46fbfd95 g.chr11:56344526C>T uc001niz.1 - 0 672 c.672G>A c.(670-672)gcG>gcA p.A224A OR8U8_uc001nit.2_Intron NM_001004741 NP_001004741 Q6IEU7 OR5MA_HUMAN Homo sapiens olfactory receptor, family 5, subfamily M, member 10 (OR5M10), mRNA. 224 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity central_nervous_system(1)|cervix(1)|endometrium(2)|large_intestine(2)|lung(15)|upper_aerodigestive_tract(2)|urinary_tract(2) 25 TCCTGAAGATCGCTGCAAAAA 0.443 SLC22A10 387775 broad.mit.edu 37 11 63072232 63072232 + Missense_Mutation SNP C C T TCGA-06-0939-01A-01D-1353-08 TCGA-06-0939-10A-01D-1353-08 Untested Somatic Phase_I WXS none Illumina GAIIx ca1a0aa7-2b4e-4479-966f-9de854b9dddc 6a8ffcc4-f3eb-4430-a734-8a2a46fbfd95 g.chr11:63072232C>T uc009yor.3 + 8 1677 c.1469C>T c.(1468-1470)aCg>aTg p.T490M SLC22A10_uc010rmo.1_Intron|SLC22A10_uc001nwu.4_Non-coding_Transcript|SLC22A10_uc010rmp.1_3'UTR NM_001039752 NP_001034841 Q63ZE4 S22AA_HUMAN Homo sapiens solute carrier family 22, member 10 (SLC22A10), mRNA. 490 integral to membrane transmembrane transporter activity breast(1)|endometrium(2)|kidney(2)|large_intestine(4)|lung(11)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 28 ATGACCTTAACGGTATTTTTT 0.423 GRM5 2915 broad.mit.edu 37 11 88242179 88242179 + Missense_Mutation SNP C C G TCGA-06-0939-01A-01D-1353-08 TCGA-06-0939-10A-01D-1353-08 Untested Somatic Phase_I WXS none Illumina GAIIx ca1a0aa7-2b4e-4479-966f-9de854b9dddc 6a8ffcc4-f3eb-4430-a734-8a2a46fbfd95 g.chr11:88242179C>G uc001pcq.3 - 8 3420 c.3220G>C c.(3220-3222)Gag>Cag p.E1074Q GRM5_uc009yvm.3_Missense_Mutation_p.E1042Q NM_001143831 NP_001137303 P41594 GRM5_HUMAN Homo sapiens glutamate receptor, metabotropic 5 (GRM5), transcript variant a, mRNA. 1074 activation of phospholipase C activity by metabotropic glutamate receptor signaling pathway|synaptic transmission integral to plasma membrane G-protein coupled receptor activity|glutamate receptor activity NS(1)|breast(5)|central_nervous_system(4)|endometrium(5)|kidney(3)|large_intestine(18)|lung(40)|ovary(3)|pancreas(1)|prostate(4)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2) 90 Acute lymphoblastic leukemia(157;2.54e-05)|all_hematologic(158;0.00834) Acamprosate(DB00659) GAGTTGAGCTCGCTGATGTTG 0.667 MAML2 84441 broad.mit.edu 37 11 96075000 96075000 + Silent SNP C C G TCGA-06-0939-01A-01D-1353-08 TCGA-06-0939-10A-01D-1353-08 Untested Somatic Phase_I WXS none Illumina GAIIx ca1a0aa7-2b4e-4479-966f-9de854b9dddc 6a8ffcc4-f3eb-4430-a734-8a2a46fbfd95 g.chr11:96075000C>G uc001pfw.1 - 0 1345 c.60G>C c.(58-60)gcG>gcC p.A20A NM_032427 NP_115803 Q8IZL2 MAML2_HUMAN Homo sapiens mastermind-like 2 (Drosophila) (MAML2), mRNA. 20 Notch signaling pathway|positive regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent nuclear speck transcription coactivator activity CRTC3/MAML2(26)|CRTC1/MAML2(516) breast(2)|cervix(1)|endometrium(11)|kidney(4)|large_intestine(8)|lung(12)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1) 43 Acute lymphoblastic leukemia(157;2.63e-05)|all_hematologic(158;0.00837) CAAGGAGCCCCGCCCCAGAGG 0.682 T """MECT1, CRTC3""" salivary gland mucoepidermoid OREG0021305 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) PGR 5241 broad.mit.edu 37 11 100996783 100996783 + Missense_Mutation SNP G G A rs144880156 TCGA-06-0939-01A-01D-1353-08 TCGA-06-0939-10A-01D-1353-08 Untested Somatic Phase_I WXS none Illumina GAIIx ca1a0aa7-2b4e-4479-966f-9de854b9dddc 6a8ffcc4-f3eb-4430-a734-8a2a46fbfd95 g.chr11:100996783G>A uc001pgh.2 - 1 2487 c.1744C>T c.(1744-1746)Ctt>Ttt p.L582F PGR_uc001pgi.2_Missense_Mutation_p.L582F|PGR_uc009yww.1_Non-coding_Transcript|PGR_uc001pgj.2_Non-coding_Transcript|PGR_uc009ywx.1_Non-coding_Transcript NM_000926 NP_000917 P06401 PRGR_HUMAN Homo sapiens progesterone receptor (PGR), transcript variant 2, mRNA. 582 cell-cell signaling|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor cytoplasm|nucleoplasm enzyme binding|receptor binding|sequence-specific DNA binding transcription factor activity|steroid binding|steroid hormone receptor activity|zinc ion binding NS(1)|breast(2)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(4)|liver(1)|lung(18)|ovary(1)|pancreas(1)|upper_aerodigestive_tract(1) 36 Acute lymphoblastic leukemia(157;0.000885)|all_hematologic(158;0.014) LUSC - Lung squamous cell carcinoma(1;0.0387)|BRCA - Breast invasive adenocarcinoma(274;0.124)|OV - Ovarian serous cystadenocarcinoma(223;0.148)|Lung(307;0.164) Desogestrel(DB00304)|Drospirenone(DB01395)|Dydrogesterone(DB00378)|Ethynodiol Diacetate(DB00823)|Etonogestrel(DB00294)|Levonorgestrel(DB00367)|Medroxyprogesterone(DB00603)|Megestrol(DB00351)|Mifepristone(DB00834)|Norethindrone(DB00717)|Norgestimate(DB00957)|Norgestrel(DB00506)|Progesterone(DB00396) CCACAGGTAAGGACACCATAA 0.443 ELMOD1 55531 broad.mit.edu 37 11 107501263 107501263 + Silent SNP G G A TCGA-06-0939-01A-01D-1353-08 TCGA-06-0939-10A-01D-1353-08 Untested Somatic Phase_I WXS none Illumina GAIIx ca1a0aa7-2b4e-4479-966f-9de854b9dddc 6a8ffcc4-f3eb-4430-a734-8a2a46fbfd95 g.chr11:107501263G>A uc010rvs.2 + 2 542 c.138G>A c.(136-138)ccG>ccA p.P46P ELMOD1_uc001pjm.3_Silent_p.P46P|ELMOD1_uc010rvt.2_Silent_p.P40P NM_018712 NP_061182 Q8N336 ELMD1_HUMAN Homo sapiens ELMO/CED-12 domain containing 1 (ELMOD1), transcript variant 1, mRNA. 46 phagocytosis cytoskeleton GTPase activator activity p.K45N(1) endometrium(2)|large_intestine(5)|liver(2)|lung(7)|pancreas(2)|prostate(1) 19 Melanoma(852;0.000288)|Acute lymphoblastic leukemia(157;0.000966)|all_hematologic(158;0.00301)|all_epithelial(67;0.00304)|Breast(348;0.104) BRCA - Breast invasive adenocarcinoma(274;3.4e-05)|Epithelial(105;0.00027)|all cancers(92;0.00481) ATACCAAGCCGGGAGCTTCTA 0.398 C11orf65 160140 broad.mit.edu 37 11 108302504 108302504 + Missense_Mutation SNP C C T TCGA-06-0939-01A-01D-1353-08 TCGA-06-0939-10A-01D-1353-08 Untested Somatic Phase_I WXS none Illumina GAIIx ca1a0aa7-2b4e-4479-966f-9de854b9dddc 6a8ffcc4-f3eb-4430-a734-8a2a46fbfd95 g.chr11:108302504C>T uc001pkh.3 - 2 213 c.143G>A c.(142-144)cGt>cAt p.R48H C11orf65_uc010rvx.1_Intron|C11orf65_uc009yxu.2_Non-coding_Transcript NM_152587 NP_689800 Q8NCR3 CK065_HUMAN Homo sapiens chromosome 11 open reading frame 65 (C11orf65), mRNA. 48 endometrium(1)|large_intestine(3)|lung(4)|ovary(2) 10 all_cancers(61;1.38e-11)|all_epithelial(67;3.16e-07)|Melanoma(852;2.55e-06)|Acute lymphoblastic leukemia(157;3.95e-05)|all_hematologic(158;0.00014)|Breast(348;0.0258)|all_neural(303;0.072) Epithelial(105;8.21e-06)|BRCA - Breast invasive adenocarcinoma(274;1.01e-05)|all cancers(92;0.000189)|Colorectal(284;0.114)|OV - Ovarian serous cystadenocarcinoma(223;0.144) CACTATCTGACGTGGTTCTCC 0.303 NTF3 4908 broad.mit.edu 37 12 5603799 5603799 + Missense_Mutation SNP C C T TCGA-06-0939-01A-01D-1353-08 TCGA-06-0939-10A-01D-1353-08 Untested Somatic Phase_I WXS none Illumina GAIIx ca1a0aa7-2b4e-4479-966f-9de854b9dddc 6a8ffcc4-f3eb-4430-a734-8a2a46fbfd95 g.chr12:5603799C>T uc001qnl.4 + 0 502 c.419C>T c.(418-420)gCg>gTg p.A140V NTF3_uc001qnk.4_Missense_Mutation_p.A153V NM_002527 NP_002518 P20783 NTF3_HUMAN Homo sapiens neurotrophin 3 (NTF3), transcript variant 2, mRNA. 140 signal transduction extracellular region growth factor activity|neurotrophin receptor binding endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(10)|ovary(1)|pancreas(3)|upper_aerodigestive_tract(1) 22 AAACGGTACGCGGAGCATAAG 0.602 GPR162 10536 broad.mit.edu 37 12 6946946 6946946 + Missense_Mutation SNP T T A TCGA-06-0939-01A-01D-1353-08 TCGA-06-0939-10A-01D-1353-08 Untested Somatic Phase_I WXS none Illumina GAIIx ca1a0aa7-2b4e-4479-966f-9de854b9dddc 6a8ffcc4-f3eb-4430-a734-8a2a46fbfd95 g.chr12:6946946T>A uc001qra.1 + 12 1793 c.1759T>A c.(1759-1761)Tgc>Agc p.C587S GPR162_uc001qrb.1_Missense_Mutation_p.C395S|GNB3_uc001qrc.3_5'Flank|GNB3_uc001qrd.3_5'Flank NM_014262 NP_055077 Q16538 GP162_HUMAN Homo sapiens leprecan-like 2 (LEPREL2), mRNA. 0 integral to membrane|plasma membrane G-protein coupled receptor activity NS(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(5)|ovary(2)|pancreas(2)|skin(1) 18 CGCAGACAACTGCGTCCTGGA 0.642 CCDC91 55297 broad.mit.edu 37 12 28459762 28459762 + Missense_Mutation SNP G G A TCGA-06-0939-01A-01D-1353-08 TCGA-06-0939-10A-01D-1353-08 Untested Somatic Phase_I WXS none Illumina GAIIx ca1a0aa7-2b4e-4479-966f-9de854b9dddc 6a8ffcc4-f3eb-4430-a734-8a2a46fbfd95 g.chr12:28459762G>A uc001riq.3 + 3 369 c.355G>A c.(355-357)Gtg>Atg p.V119M CCDC91_uc001rio.3_Missense_Mutation_p.V89M|CCDC91_uc009zjk.3_Non-coding_Transcript|CCDC91_uc001rip.1_Missense_Mutation_p.V119M|CCDC91_uc009zjl.3_5'UTR NM_018318 NP_060788 Q7Z6B0 CCD91_HUMAN Homo sapiens coiled-coil domain containing 91 (CCDC91), mRNA. 119 protein transport Golgi apparatus|membrane NS(1)|breast(3)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(5)|lung(8)|skin(1) 22 Acute lymphoblastic leukemia(23;0.00718)|all_hematologic(23;0.0113)|Lung SC(9;0.184) AATTGCCCTTGTGGATGATTC 0.358 SP7 121340 broad.mit.edu 37 12 53722081 53722081 + Missense_Mutation SNP C C G TCGA-06-0939-01A-01D-1353-08 TCGA-06-0939-10A-01D-1353-08 Untested Somatic Phase_I WXS none Illumina GAIIx ca1a0aa7-2b4e-4479-966f-9de854b9dddc 6a8ffcc4-f3eb-4430-a734-8a2a46fbfd95 g.chr12:53722081C>G uc001sct.3 - 1 1252 c.1145G>C c.(1144-1146)gGt>gCt p.G382A SP7_uc001scv.3_Missense_Mutation_p.G382A|SP7_uc001scu.3_Missense_Mutation_p.G364A NM_152860 NP_690599 Q8TDD2 SP7_HUMAN Homo sapiens Sp7 transcription factor (SP7), transcript variant 2, mRNA. 382 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding cervix(2)|large_intestine(3)|lung(7)|skin(1)|urinary_tract(1) 14 GGGAGGGGGACCCGGGCCTGG 0.672 OREG0021867 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) KSR2 283455 broad.mit.edu 37 12 117977618 117977618 + Silent SNP C C T TCGA-06-0939-01A-01D-1353-08 TCGA-06-0939-10A-01D-1353-08 Untested Somatic Phase_I WXS none Illumina GAIIx ca1a0aa7-2b4e-4479-966f-9de854b9dddc 6a8ffcc4-f3eb-4430-a734-8a2a46fbfd95 g.chr12:117977618C>T uc001two.2 - 9 1561 c.1506G>A c.(1504-1506)tcG>tcA p.S502S NM_173598 NP_775869 Q6VAB6 KSR2_HUMAN Homo sapiens kinase suppressor of ras 2 (KSR2), mRNA. 531 intracellular signal transduction cytoplasm|membrane ATP binding|metal ion binding|protein serine/threonine kinase activity NS(1)|breast(3)|central_nervous_system(2)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|lung(25)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 67 all_neural(191;0.0804)|Medulloblastoma(191;0.0922) GGGGTGCTGGCGAGGAGGGCG 0.627 FLT1 2321 broad.mit.edu 37 13 28971149 28971149 + Missense_Mutation SNP T T C TCGA-06-0939-01A-01D-1353-08 TCGA-06-0939-10A-01D-1353-08 Untested Somatic Phase_I WXS none Illumina GAIIx ca1a0aa7-2b4e-4479-966f-9de854b9dddc 6a8ffcc4-f3eb-4430-a734-8a2a46fbfd95 g.chr13:28971149T>C uc001usb.3 - 11 1893 c.1608A>G c.(1606-1608)atA>atG p.I536M FLT1_uc010aar.1_Missense_Mutation_p.I536M|FLT1_uc001usc.3_Missense_Mutation_p.I536M|FLT1_uc010aas.1_Non-coding_Transcript|FLT1_uc010aat.1_Missense_Mutation_p.I19M NM_002019 NP_002010 P17948 VGFR1_HUMAN Homo sapiens fms-related tyrosine kinase 1 (vascular endothelial growth factor/vascular permeability factor receptor) (FLT1), transcript variant 1, mRNA. 536 Ig-like C2-type 5. cell differentiation|female pregnancy|positive regulation of vascular endothelial growth factor receptor signaling pathway extracellular space|Golgi apparatus|integral to plasma membrane|nucleus ATP binding|growth factor binding|vascular endothelial growth factor receptor activity NS(1)|breast(2)|central_nervous_system(5)|endometrium(8)|kidney(3)|large_intestine(20)|lung(55)|ovary(3)|prostate(1)|skin(12)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(2) 115 Acute lymphoblastic leukemia(6;0.04) Lung SC(185;0.0262)|Breast(139;0.188) Colorectal(13;0.000674) all cancers(112;0.0301)|Epithelial(112;0.155)|GBM - Glioblastoma multiforme(144;0.184)|OV - Ovarian serous cystadenocarcinoma(117;0.205)|Lung(94;0.207) Sunitinib(DB01268) TATTGGAAGCTATGCAAATGT 0.413 BRCA2 675 broad.mit.edu 37 13 32937431 32937431 + Missense_Mutation SNP G G A rs80359052 by1000genomes TCGA-06-0939-01A-01D-1353-08 TCGA-06-0939-10A-01D-1353-08 Untested Somatic Phase_I WXS none Illumina GAIIx ca1a0aa7-2b4e-4479-966f-9de854b9dddc 6a8ffcc4-f3eb-4430-a734-8a2a46fbfd95 g.chr13:32937431G>A uc001uub.1 + 17 8319 c.8092G>A c.(8092-8094)Gca>Aca p.A2698T NM_000059 NP_000050 P51587 BRCA2_HUMAN Homo sapiens breast cancer 2, early onset (BRCA2), mRNA. 2698 cell cycle cytokinesis|centrosome duplication|double-strand break repair via homologous recombination|negative regulation of mammary gland epithelial cell proliferation|nucleotide-excision repair|positive regulation of transcription, DNA-dependent|regulation of S phase of mitotic cell cycle BRCA2-MAGE-D1 complex|centrosome|nucleoplasm|stored secretory granule gamma-tubulin binding|H3 histone acetyltransferase activity|H4 histone acetyltransferase activity|protease binding|single-stranded DNA binding p.S2697fs*31(2) NS(3)|breast(13)|central_nervous_system(5)|cervix(2)|endometrium(24)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(32)|liver(1)|lung(41)|oesophagus(5)|ovary(22)|pancreas(4)|prostate(3)|salivary_gland(1)|skin(11)|upper_aerodigestive_tract(2)|urinary_tract(3) 183 Lung SC(185;0.0262) all cancers(112;7.13e-07)|Epithelial(112;1.59e-05)|OV - Ovarian serous cystadenocarcinoma(117;0.000732)|BRCA - Breast invasive adenocarcinoma(63;0.0291)|GBM - Glioblastoma multiforme(144;0.0704) TTCATTGAGCGCAAATATATC 0.378 """D, Mis, N, F, S""" """breast, ovarian, pancreatic""" """breast, ovarian, pancreatic, leukemia (FANCB, FANCD1)""" Homologous recombination Pancreatic Cancer, Familial Clustering of;Li-Fraumeni syndrome;Hereditary Prostate Cancer;Hereditary Breast-Ovarian Cancer, BRCA2 type;Fanconi Anemia type D1, bi-allelic BRCA2 mutations;Fanconi Anemia TCGA Ovarian(8;0.087) RB1 5925 broad.mit.edu 37 13 48953730 48953730 + Nonsense_Mutation SNP C C T rs3092891 TCGA-06-0939-01A-01D-1353-08 TCGA-06-0939-10A-01D-1353-08 Untested Somatic Phase_I WXS none Illumina GAIIx ca1a0aa7-2b4e-4479-966f-9de854b9dddc 6a8ffcc4-f3eb-4430-a734-8a2a46fbfd95 g.chr13:48953730C>T uc001vcb.3 + 14 1499 c.1333_splice c.e14-1 p.R445_splice NM_000321 NP_000312 P06400 RB_HUMAN Homo sapiens retinoblastoma 1 (RB1), mRNA. 445 Domain A.|Pocket; binds T and E1A. androgen receptor signaling pathway|cell cycle arrest|chromatin remodeling|G1 phase of mitotic cell cycle|interspecies interaction between organisms|maintenance of mitotic sister chromatid cohesion|mitotic cell cycle G1/S transition checkpoint|myoblast differentiation|negative regulation of cell growth|negative regulation of protein kinase activity|negative regulation of S phase of mitotic cell cycle|negative regulation of sequence-specific DNA binding transcription factor activity|positive regulation of mitotic metaphase/anaphase transition|protein localization to chromosome, centromeric region|Ras protein signal transduction|regulation of centromere complex assembly|regulation of cohesin localization to chromatin|regulation of lipid kinase activity|regulation of transcription involved in G1/S phase of mitotic cell cycle|S phase of mitotic cell cycle|sister chromatid biorientation chromatin|PML body|Rb-E2F complex|SWI/SNF complex androgen receptor binding|DNA binding|kinase binding|phosphoprotein binding|sequence-specific DNA binding transcription factor activity|transcription coactivator activity|transcription factor binding|ubiquitin protein ligase binding p.0?(15)|p.?(8)|p.R445*(2) NS(3)|adrenal_gland(1)|bone(22)|breast(30)|central_nervous_system(48)|cervix(3)|endometrium(14)|eye(95)|gastrointestinal_tract_(site_indeterminate)(1)|haematopoietic_and_lymphoid_tissue(20)|kidney(3)|large_intestine(10)|liver(3)|lung(153)|oesophagus(1)|ovary(13)|pancreas(5)|pituitary(1)|prostate(14)|salivary_gland(2)|skin(9)|soft_tissue(9)|stomach(4)|upper_aerodigestive_tract(1)|urinary_tract(31) 496 all_cancers(8;6.9e-71)|all_epithelial(8;4.61e-22)|Acute lymphoblastic leukemia(8;1.1e-21)|all_hematologic(8;2.3e-21)|all_lung(13;1.51e-09)|Lung NSC(96;7.03e-07)|Breast(56;1.53e-05)|Prostate(109;0.000493)|Myeloproliferative disorder(33;0.0179)|Hepatocellular(98;0.0207)|all_neural(104;0.0227)|Glioma(44;0.0286)|Lung SC(185;0.0301) GBM - Glioblastoma multiforme(2;9.98e-18)|LUSC - Lung squamous cell carcinoma(3;0.013) Insulin Glargine recombinant(DB00047)|Insulin Lyspro recombinant(DB00046)|Insulin recombinant(DB00030)|Insulin, porcine(DB00071) TTGTTTGTAGCGATACAAACT 0.333 6 """D, Mis, N, F, S""" """retinoblastoma, sarcoma, breast, small cell lung""" """retinoblastoma, sarcoma, breast, small cell lung""" Hereditary Retinoblastoma TCGA GBM(7;6.82e-08)|TSP Lung(12;0.097)|TCGA Ovarian(6;0.080) IPO5 3843 broad.mit.edu 37 13 98641352 98641352 + Missense_Mutation SNP A A T TCGA-06-0939-01A-01D-1353-08 TCGA-06-0939-10A-01D-1353-08 Untested Somatic Phase_I WXS none Illumina GAIIx ca1a0aa7-2b4e-4479-966f-9de854b9dddc 6a8ffcc4-f3eb-4430-a734-8a2a46fbfd95 g.chr13:98641352A>T uc001vne.3 + 6 635 c.455A>T c.(454-456)aAg>aTg p.K152M IPO5_uc001vnf.1_Missense_Mutation_p.K134M|IPO5_uc010tik.1_Intron|IPO5_uc010til.1_Missense_Mutation_p.K74M NM_002271 NP_002262 O00410 IPO5_HUMAN Homo sapiens importin 5 (IPO5), mRNA. 134 interspecies interaction between organisms|NLS-bearing substrate import into nucleus|ribosomal protein import into nucleus cytoplasm|nuclear pore|nucleolus GTPase inhibitor activity|protein transporter activity|Ran GTPase binding breast(2)|endometrium(2)|large_intestine(8)|lung(8)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2) 27 GAAGGTTTGAAGTTCCTTTTT 0.383 SLC22A17 51310 broad.mit.edu 37 14 23820969 23820969 + Silent SNP G G A TCGA-06-0939-01A-01D-1353-08 TCGA-06-0939-10A-01D-1353-08 Untested Somatic Phase_I WXS none Illumina GAIIx ca1a0aa7-2b4e-4479-966f-9de854b9dddc 6a8ffcc4-f3eb-4430-a734-8a2a46fbfd95 g.chr14:23820969G>A uc001wjl.3 - 1 600 c.363C>T c.(361-363)ccC>ccT p.P121P SLC22A17_uc010akk.3_5'UTR|SLC22A17_uc001wjm.3_Silent_p.P121P|SLC22A17_uc001wjn.3_Intron|SLC22A17_uc010akl.1_Silent_p.P121P NM_020372 NP_065105 Q8WUG5 S22AH_HUMAN Homo sapiens solute carrier family 22, member 17 (SLC22A17), transcript variant 1, mRNA. 121 siderophore transport integral to organelle membrane|integral to plasma membrane|vacuolar membrane transmembrane receptor activity|transmembrane transporter activity breast(1)|cervix(1)|endometrium(1)|large_intestine(3)|lung(3)|ovary(1)|pancreas(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 15 all_cancers(95;7.12e-06) GBM - Glioblastoma multiforme(265;0.00643) ACCTGTCTGCGGGGTAACCCA 0.617 FSCB 84075 broad.mit.edu 37 14 44975096 44975096 + Silent SNP A A G TCGA-06-0939-01A-01D-1353-08 TCGA-06-0939-10A-01D-1353-08 Untested Somatic Phase_I WXS none Illumina GAIIx ca1a0aa7-2b4e-4479-966f-9de854b9dddc 6a8ffcc4-f3eb-4430-a734-8a2a46fbfd95 g.chr14:44975096A>G uc001wvn.3 - 0 1404 c.1095T>C c.(1093-1095)gcT>gcC p.A365A NM_032135 NP_115511 Q5H9T9 FSCB_HUMAN Homo sapiens fibrous sheath CABYR binding protein (FSCB), mRNA. 365 Pro-rich. cilium breast(4)|central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(10)|lung(47)|ovary(2)|pancreas(1)|prostate(5)|skin(5)|stomach(2)|upper_aerodigestive_tract(4)|urinary_tract(1) 89 GBM - Glioblastoma multiforme(112;0.128) GCAGAATTTCAGCAGGAGGCT 0.493 PCNX 22990 broad.mit.edu 37 14 71444226 71444226 + Missense_Mutation SNP G G A TCGA-06-0939-01A-01D-1353-08 TCGA-06-0939-10A-01D-1353-08 Untested Somatic Phase_I WXS none Illumina GAIIx ca1a0aa7-2b4e-4479-966f-9de854b9dddc 6a8ffcc4-f3eb-4430-a734-8a2a46fbfd95 g.chr14:71444226G>A uc001xmo.2 + 5 1618 c.1172G>A c.(1171-1173)cGg>cAg p.R391Q PCNX_uc001xmn.4_Missense_Mutation_p.R391Q|PCNX_uc010are.1_Missense_Mutation_p.R391Q NM_014982 NP_055797 Q96RV3 PCX1_HUMAN Homo sapiens pecanex homolog (Drosophila) (PCNX), mRNA. 391 integral to membrane p.R391P(2) NS(2)|biliary_tract(1)|breast(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(14)|liver(2)|lung(40)|ovary(1)|prostate(7)|skin(2)|urinary_tract(1) 87 KIRC - Kidney renal clear cell carcinoma(12;0.206) all cancers(60;0.00835)|BRCA - Breast invasive adenocarcinoma(234;0.00951)|OV - Ovarian serous cystadenocarcinoma(108;0.0417) GGAACGGACCGGGACACTAAC 0.498 ESRRB 2103 broad.mit.edu 37 14 76964704 76964704 + Missense_Mutation SNP C C T TCGA-06-0939-01A-01D-1353-08 TCGA-06-0939-10A-01D-1353-08 Untested Somatic Phase_I WXS none Illumina GAIIx ca1a0aa7-2b4e-4479-966f-9de854b9dddc 6a8ffcc4-f3eb-4430-a734-8a2a46fbfd95 g.chr14:76964704C>T uc001xsr.3 + 8 1576 c.1205C>T c.(1204-1206)aCg>aTg p.T402M ESRRB_uc001xso.3_Non-coding_Transcript|ESRRB_uc001xsq.1_Missense_Mutation_p.T402M NM_004452 NP_004443 A2VDJ2 A2VDJ2_HUMAN Homo sapiens estrogen-related receptor beta (ESRRB), mRNA. 402 nucleus sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|steroid hormone receptor activity|zinc ion binding endometrium(2)|large_intestine(4)|lung(14)|ovary(1)|skin(2)|upper_aerodigestive_tract(1) 24 BRCA - Breast invasive adenocarcinoma(234;0.0213) CTGCGGCAGACGGCCGCCAAG 0.627 BCL11B 64919 broad.mit.edu 37 14 99640778 99640778 + Missense_Mutation SNP C C T TCGA-06-0939-01A-01D-1353-08 TCGA-06-0939-10A-01D-1353-08 Untested Somatic Phase_I WXS none Illumina GAIIx ca1a0aa7-2b4e-4479-966f-9de854b9dddc 6a8ffcc4-f3eb-4430-a734-8a2a46fbfd95 g.chr14:99640778C>T uc001yga.3 - 3 2662 c.2395G>A c.(2395-2397)Gag>Aag p.E799K BCL11B_uc001ygb.3_Missense_Mutation_p.E728K NM_138576 NP_612808 Q9C0K0 BC11B_HUMAN Homo sapiens B-cell CLL/lymphoma 11B (zinc finger protein) (BCL11B), transcript variant 1, mRNA. 799 nucleus zinc ion binding NS(3)|breast(1)|central_nervous_system(9)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(2)|lung(9)|prostate(2)|skin(2) 34 Melanoma(154;0.0866)|all_epithelial(191;0.241) COAD - Colon adenocarcinoma(157;0.103) CCGCAGTACTCGCACGTGTCG 0.721 T TLX3 T-ALL FAM82A2 55177 broad.mit.edu 37 15 41046948 41046948 + Missense_Mutation SNP C C T TCGA-06-0939-01A-01D-1353-08 TCGA-06-0939-10A-01D-1353-08 Untested Somatic Phase_I WXS none Illumina GAIIx ca1a0aa7-2b4e-4479-966f-9de854b9dddc 6a8ffcc4-f3eb-4430-a734-8a2a46fbfd95 g.chr15:41046948C>T uc001zmp.1 - 1 219 c.34G>A c.(34-36)Gcc>Acc p.A12T FAM82A2_uc001zmo.1_Missense_Mutation_p.A12T|FAM82A2_uc001zmq.1_Missense_Mutation_p.A12T NM_018145 NP_060615 Q96TC7 RMD3_HUMAN Homo sapiens family with sequence similarity 82, member A2 (FAM82A2), mRNA. 12 apoptosis|cell differentiation integral to membrane|microtubule|mitochondrial membrane|nucleus|spindle pole protein binding breast(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1) 11 CCCAGCCCGGCACGGGCACCA 0.687 SPINT1 6692 broad.mit.edu 37 15 41146113 41146113 + Missense_Mutation SNP C C T rs145193299 TCGA-06-0939-01A-01D-1353-08 TCGA-06-0939-10A-01D-1353-08 Untested Somatic Phase_I WXS none Illumina GAIIx ca1a0aa7-2b4e-4479-966f-9de854b9dddc 6a8ffcc4-f3eb-4430-a734-8a2a46fbfd95 g.chr15:41146113C>T uc001zna.3 + 4 1151 c.947C>T c.(946-948)gCg>gTg p.A316V SPINT1_uc001znb.3_Intron|SPINT1_uc001znc.3_Intron|SPINT1_uc010ucs.2_Missense_Mutation_p.A316V NM_181642 NP_857593 O43278 SPIT1_HUMAN Homo sapiens serine peptidase inhibitor, Kunitz type 1 (SPINT1), transcript variant 1, mRNA. 316 extracellular region|membrane fraction protein binding|serine-type endopeptidase inhibitor activity central_nervous_system(1)|kidney(2)|large_intestine(1)|lung(9)|ovary(1)|prostate(1)|skin(1) 16 all_cancers(109;1.35e-17)|all_epithelial(112;3.78e-15)|Lung NSC(122;9.68e-11)|all_lung(180;2.25e-09)|Melanoma(134;0.0574)|Ovarian(310;0.0822)|Colorectal(260;0.0946) GBM - Glioblastoma multiforme(113;2.91e-05)|COAD - Colon adenocarcinoma(120;0.153)|BRCA - Breast invasive adenocarcinoma(123;0.166) GGGGCTCAGGCGACTTTCCCC 0.592 TP53BP1 7158 broad.mit.edu 37 15 43748820 43748820 + Silent SNP C C T TCGA-06-0939-01A-01D-1353-08 TCGA-06-0939-10A-01D-1353-08 Untested Somatic Phase_I WXS none Illumina GAIIx ca1a0aa7-2b4e-4479-966f-9de854b9dddc 6a8ffcc4-f3eb-4430-a734-8a2a46fbfd95 g.chr15:43748820C>T uc001zrs.3 - 11 2119 c.1971G>A c.(1969-1971)gaG>gaA p.E657E TP53BP1_uc010udp.2_Silent_p.E657E|TP53BP1_uc001zrq.4_Silent_p.E662E|TP53BP1_uc001zrr.4_Silent_p.E662E|TP53BP1_uc010udq.1_Silent_p.E662E NM_005657 NP_005648 Q12888 TP53B_HUMAN Homo sapiens tumor protein p53 binding protein 1 (TP53BP1), transcript variant 3, mRNA. 657 double-strand break repair via homologous recombination|positive regulation of transcription from RNA polymerase II promoter condensed chromosome kinetochore|cytoplasm|nucleoplasm p53 binding|RNA polymerase II activating transcription factor binding|RNA polymerase II transcription cofactor activity breast(4)|endometrium(5)|kidney(7)|large_intestine(22)|lung(13)|ovary(4)|pancreas(2)|prostate(1)|skin(10)|upper_aerodigestive_tract(1)|urinary_tract(3) 72 all_cancers(109;6.94e-11)|all_epithelial(112;2.69e-09)|Lung NSC(122;7.86e-07)|all_lung(180;7.84e-06)|Melanoma(134;0.0728) GBM - Glioblastoma multiforme(94;1.59e-06) CTGAAGACCCCTCCTCTGGAT 0.483 Other conserved DNA damage response genes ADAMTS18 170692 broad.mit.edu 37 16 77401546 77401546 + Missense_Mutation SNP G G T TCGA-06-0939-01A-01D-1353-08 TCGA-06-0939-10A-01D-1353-08 Untested Somatic Phase_I WXS none Illumina GAIIx ca1a0aa7-2b4e-4479-966f-9de854b9dddc 6a8ffcc4-f3eb-4430-a734-8a2a46fbfd95 g.chr16:77401546G>T uc002ffc.4 - 3 989 c.570C>A c.(568-570)aaC>aaA p.N190K ADAMTS18_uc002ffe.1_5'UTR|ADAMTS18_uc010vni.1_Non-coding_Transcript NM_199355 NP_955387 Q8TE60 ATS18_HUMAN Homo sapiens ADAM metallopeptidase with thrombospondin type 1 motif, 18 (ADAMTS18), mRNA. 190 proteolysis proteinaceous extracellular matrix metalloendopeptidase activity|zinc ion binding NS(1)|breast(5)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|kidney(9)|large_intestine(26)|lung(44)|ovary(2)|pancreas(1)|prostate(1)|skin(19)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 118 GGGAGCTGTAGTTGTGTTCCT 0.502 OR1E2 8388 broad.mit.edu 37 17 3336801 3336801 + Missense_Mutation SNP C C T TCGA-06-0939-01A-01D-1353-08 TCGA-06-0939-10A-01D-1353-08 Untested Somatic Phase_I WXS none Illumina GAIIx ca1a0aa7-2b4e-4479-966f-9de854b9dddc 6a8ffcc4-f3eb-4430-a734-8a2a46fbfd95 g.chr17:3336801C>T uc010vre.2 - 0 335 c.335G>A c.(334-336)aGc>aAc p.S112N NM_003554 NP_003545 P47887 OR1E2_HUMAN Homo sapiens olfactory receptor, family 1, subfamily E, member 2 (OR1E2), mRNA. 112 sensory perception of smell integral to plasma membrane olfactory receptor activity endometrium(3)|large_intestine(3)|lung(3) 9 AAGGAGGAAGCTCTCTAGATC 0.522 TRPV1 7442 broad.mit.edu 37 17 3486725 3486725 + Splice_Site SNP C C G TCGA-06-0939-01A-01D-1353-08 TCGA-06-0939-10A-01D-1353-08 Untested Somatic Phase_I WXS none Illumina GAIIx ca1a0aa7-2b4e-4479-966f-9de854b9dddc 6a8ffcc4-f3eb-4430-a734-8a2a46fbfd95 g.chr17:3486725C>G uc010vro.2 - 9 1450 c.1417_splice c.e9-1 p.P473_splice TRPV1_uc010vrp.2_Splice_Site_p.P402_splice|TRPV1_uc010vrq.2_Splice_Site_p.P460_splice|TRPV1_uc010vrr.2_Splice_Site_p.P462_splice|TRPV1_uc010vrs.2_Splice_Site_p.P462_splice|TRPV1_uc010vrt.2_Splice_Site_p.P462_splice|TRPV1_uc010vru.2_Splice_Site_p.P462_splice NM_080706 NP_542437 Q8NER1 TRPV1_HUMAN Homo sapiens transient receptor potential cation channel, subfamily V, member 1 (TRPV1), transcript variant 3, mRNA. 462 cell surface receptor linked signaling pathway|chemosensory behavior|thermoception cell junction|dendritic spine membrane|integral to plasma membrane|postsynaptic membrane ATP binding|calcium channel activity|calmodulin binding central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(4)|lung(5)|ovary(1)|prostate(1)|urinary_tract(1) 17 Lung(1;0.055)|COAD - Colon adenocarcinoma(5;0.0896)|LUAD - Lung adenocarcinoma(1115;0.131) Alpha-Linolenic Acid(DB00132)|Aspartame(DB00168)|Icosapent(DB00159) TAAAGGGAGGCTGTGAGATGC 0.473 PLXDC1 57125 broad.mit.edu 37 17 37295949 37295949 + Silent SNP G G T TCGA-06-0939-01A-01D-1353-08 TCGA-06-0939-10A-01D-1353-08 Untested Somatic Phase_I WXS none Illumina GAIIx ca1a0aa7-2b4e-4479-966f-9de854b9dddc 6a8ffcc4-f3eb-4430-a734-8a2a46fbfd95 g.chr17:37295949G>T uc002hrg.2 - 1 425 c.213C>A c.(211-213)acC>acA p.T71T PLXDC1_uc002hrh.2_Non-coding_Transcript|PLXDC1_uc002hri.2_Non-coding_Transcript|PLXDC1_uc002hrj.1_Non-coding_Transcript|PLXDC1_uc002hrk.1_Non-coding_Transcript NM_020405 NP_065138 Q8IUK5 PXDC1_HUMAN Homo sapiens plexin domain containing 1 (PLXDC1), mRNA. 71 angiogenesis cytoplasm|extracellular region|integral to membrane|tight junction kidney(2)|large_intestine(6)|liver(1)|lung(10)|ovary(2)|skin(1)|upper_aerodigestive_tract(1) 23 CCATGGCCAGGGTGCCCCCAC 0.672 KRT13 3860 broad.mit.edu 37 17 39661434 39661434 + Silent SNP G G A TCGA-06-0939-01A-01D-1353-08 TCGA-06-0939-10A-01D-1353-08 Untested Somatic Phase_I WXS none Illumina GAIIx ca1a0aa7-2b4e-4479-966f-9de854b9dddc 6a8ffcc4-f3eb-4430-a734-8a2a46fbfd95 g.chr17:39661434G>A uc002hwu.1 - 0 432 c.369C>T c.(367-369)cgC>cgT p.R123R KRT13_uc002hwv.1_Silent_p.R123R|KRT13_uc010wfr.2_Silent_p.R16R|KRT13_uc010cxo.3_Silent_p.R123R|KRT13_uc021txk.1_Silent_p.R16R NM_153490 NP_705694 P13646 K1C13_HUMAN Homo sapiens keratin 13 (KRT13), transcript variant 1, mRNA. 123 Coil 1A.|Rod. epidermis development intermediate filament structural molecule activity NS(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(10)|ovary(2)|pancreas(1)|prostate(2)|skin(4)|urinary_tract(1) 33 Breast(137;0.000286) CCTCCAGGGCGCGCACCTTCT 0.597 HLF 3131 broad.mit.edu 37 17 53398080 53398080 + Missense_Mutation SNP G G A TCGA-06-0939-01A-01D-1353-08 TCGA-06-0939-10A-01D-1353-08 Untested Somatic Phase_I WXS none Illumina GAIIx ca1a0aa7-2b4e-4479-966f-9de854b9dddc 6a8ffcc4-f3eb-4430-a734-8a2a46fbfd95 g.chr17:53398080G>A uc002iug.1 + 3 1253 c.728G>A c.(727-729)cGc>cAc p.R243H HLF_uc010dce.1_Missense_Mutation_p.R158H|HLF_uc002iuh.2_Missense_Mutation_p.R158H|HLF_uc010wni.1_Missense_Mutation_p.R190H NM_002126 NP_002117 Q16534 HLF_HUMAN Homo sapiens hepatic leukemia factor (HLF), mRNA. 243 multicellular organismal development|rhythmic process|transcription from RNA polymerase II promoter nucleus double-stranded DNA binding|protein dimerization activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity large_intestine(1)|ovary(2) 3 AAGCGCTCCCGCGACGCCCGG 0.547 T TCF3 ALL TLK2 11011 broad.mit.edu 37 17 60679467 60679467 + Silent SNP G G A TCGA-06-0939-01A-01D-1353-08 TCGA-06-0939-10A-01D-1353-08 Untested Somatic Phase_I WXS none Illumina GAIIx ca1a0aa7-2b4e-4479-966f-9de854b9dddc 6a8ffcc4-f3eb-4430-a734-8a2a46fbfd95 g.chr17:60679467G>A uc010ddp.3 + 19 2119 c.1851G>A c.(1849-1851)tcG>tcA p.S617S TLK2_uc002izx.4_Silent_p.S443S|TLK2_uc002izz.4_Silent_p.S595S|TLK2_uc002jaa.4_Silent_p.S563S|TLK2_uc010wpd.2_Silent_p.S563S NM_006852 NP_006843 Q86UE8 TLK2_HUMAN Homo sapiens tousled-like kinase 2 (TLK2), transcript variant A, mRNA. 617 Protein kinase. cell cycle|chromatin modification|intracellular signal transduction|regulation of chromatin assembly or disassembly|response to DNA damage stimulus nucleus ATP binding|protein binding|protein serine/threonine kinase activity NS(1)|breast(2)|central_nervous_system(1)|endometrium(10)|kidney(4)|large_intestine(6)|liver(2)|lung(10)|prostate(1)|stomach(1)|urinary_tract(1) 39 TTGGTCTTTCGAAGATCATGG 0.383 ABCA10 10349 broad.mit.edu 37 17 67181653 67181653 + Missense_Mutation SNP G G A TCGA-06-0939-01A-01D-1353-08 TCGA-06-0939-10A-01D-1353-08 Untested Somatic Phase_I WXS none Illumina GAIIx ca1a0aa7-2b4e-4479-966f-9de854b9dddc 6a8ffcc4-f3eb-4430-a734-8a2a46fbfd95 g.chr17:67181653G>A uc010dfa.1 - 20 3341 c.2462C>T c.(2461-2463)aCg>aTg p.T821M ABCA10_uc010wqt.1_Non-coding_Transcript|ABCA10_uc010dfb.1_Missense_Mutation_p.T422M NM_080282 NP_525021 Q8WWZ4 ABCAA_HUMAN Homo sapiens ATP-binding cassette, sub-family A (ABC1), member 10 (ABCA10), mRNA. 821 transport integral to membrane ATP binding|ATPase activity p.K820N(1) breast(2)|central_nervous_system(1)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(20)|lung(34)|ovary(2)|prostate(1)|skin(2)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(4) 81 Breast(10;6.95e-12) GGTAAGAGGCGTCTTCGGGAT 0.363 P4HB 5034 broad.mit.edu 37 17 79804920 79804920 + Missense_Mutation SNP A A C TCGA-06-0939-01A-01D-1353-08 TCGA-06-0939-10A-01D-1353-08 Untested Somatic Phase_I WXS none Illumina GAIIx ca1a0aa7-2b4e-4479-966f-9de854b9dddc 6a8ffcc4-f3eb-4430-a734-8a2a46fbfd95 g.chr17:79804920A>C uc002kbn.1 - 5 955 c.758T>G c.(757-759)aTc>aGc p.I253S P4HB_uc002kbl.1_Intron|P4HB_uc002kbm.1_5'UTR NM_000918 NP_000909 P07237 PDIA1_HUMAN Homo sapiens prolyl 4-hydroxylase, beta polypeptide (P4HB), mRNA. 253 cell redox homeostasis|glycerol ether metabolic process|lipid metabolic process|lipoprotein metabolic process|peptidyl-proline hydroxylation to 4-hydroxy-L-proline cell surface|endoplasmic reticulum lumen|ER-Golgi intermediate compartment|extracellular region|melanosome|plasma membrane electron carrier activity|procollagen-proline 4-dioxygenase activity|protein disulfide isomerase activity|protein disulfide oxidoreductase activity NS(1)|breast(1)|large_intestine(2)|lung(17)|urinary_tract(1) 22 all_neural(118;0.0878)|Ovarian(332;0.12) BRCA - Breast invasive adenocarcinoma(99;0.013)|OV - Ovarian serous cystadenocarcinoma(97;0.0509) GTGAGTCTTGATTTCACCTCC 0.468 LAMA3 3909 broad.mit.edu 37 18 21492813 21492813 + Missense_Mutation SNP A A G TCGA-06-0939-01A-01D-1353-08 TCGA-06-0939-10A-01D-1353-08 Untested Somatic Phase_I WXS none Illumina GAIIx ca1a0aa7-2b4e-4479-966f-9de854b9dddc 6a8ffcc4-f3eb-4430-a734-8a2a46fbfd95 g.chr18:21492813A>G uc002kuq.3 + 55 7383 c.7297A>G c.(7297-7299)Aat>Gat p.N2433D LAMA3_uc002kur.3_Missense_Mutation_p.N2377D|LAMA3_uc002kus.4_Missense_Mutation_p.N824D|LAMA3_uc002kut.4_Missense_Mutation_p.N768D NM_198129 NP_937762 Q16787 LAMA3_HUMAN Homo sapiens laminin, alpha 3 (LAMA3), transcript variant 1, mRNA. 2433 Laminin G-like 1. cell adhesion|epidermis development|hemidesmosome assembly|regulation of cell adhesion|regulation of cell migration|regulation of embryonic development laminin-1 complex receptor binding|structural molecule activity NS(2)|breast(4)|central_nervous_system(3)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(24)|lung(54)|ovary(8)|prostate(6)|skin(7)|urinary_tract(4) 128 all_cancers(21;7.81e-05)|all_epithelial(16;4.45e-07)|Lung NSC(20;0.00156)|all_lung(20;0.00508)|Colorectal(14;0.0202)|Ovarian(20;0.17) Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Tenecteplase(DB00031) GGGTACTGAGAATATGTTTGT 0.398 CATSPERD 257062 broad.mit.edu 37 19 5748191 5748191 + Missense_Mutation SNP C C T TCGA-06-0939-01A-01D-1353-08 TCGA-06-0939-10A-01D-1353-08 Untested Somatic Phase_I WXS none Illumina GAIIx ca1a0aa7-2b4e-4479-966f-9de854b9dddc 6a8ffcc4-f3eb-4430-a734-8a2a46fbfd95 g.chr19:5748191C>T uc002mda.3 + 9 890 c.829C>T c.(829-831)Cgg>Tgg p.R277W CATSPERD_uc010duj.1_5'UTR NM_152784 NP_689997 Q86XM0 TM146_HUMAN Homo sapiens transmembrane protein 146 (TMEM146), mRNA. 277 integral to membrane CGACACCGTCCGGGTGAAAAA 0.542 CATSPERG 57828 broad.mit.edu 37 19 38851477 38851477 + Missense_Mutation SNP G G A TCGA-06-0939-01A-01D-1353-08 TCGA-06-0939-10A-01D-1353-08 Untested Somatic Phase_I WXS none Illumina GAIIx ca1a0aa7-2b4e-4479-966f-9de854b9dddc 6a8ffcc4-f3eb-4430-a734-8a2a46fbfd95 g.chr19:38851477G>A uc002oih.4 + 15 1961 c.1874G>A c.(1873-1875)cGg>cAg p.R625Q CATSPERG_uc002oig.4_Missense_Mutation_p.R585Q|CATSPERG_uc002oif.4_Missense_Mutation_p.R265Q|CATSPERG_uc010efw.3_Non-coding_Transcript NM_021185 NP_067008 Q6ZRH7 CTSRG_HUMAN Homo sapiens cation channel, sperm-associated, gamma (CATSPERG), mRNA. 625 cell differentiation|multicellular organismal development|spermatogenesis integral to membrane p.T625T(1) breast(1)|endometrium(5)|kidney(2)|large_intestine(4)|lung(13)|ovary(1)|pancreas(2)|prostate(6)|skin(3)|stomach(1)|urinary_tract(2) 40 GACTTGGAGCGGAAAGGGTGA 0.572 ZNF780A 284323 broad.mit.edu 37 19 40580618 40580618 + Silent SNP T T C TCGA-06-0939-01A-01D-1353-08 TCGA-06-0939-10A-01D-1353-08 Untested Somatic Phase_I WXS none Illumina GAIIx ca1a0aa7-2b4e-4479-966f-9de854b9dddc 6a8ffcc4-f3eb-4430-a734-8a2a46fbfd95 g.chr19:40580618T>C uc010xvh.2 - 5 1882 c.1734A>G c.(1732-1734)aaA>aaG p.K578K ZNF780A_uc002omw.4_Intron|ZNF780A_uc002omy.3_Silent_p.K577K|ZNF780A_uc002omz.3_Silent_p.K577K NM_001142577 NP_001136049 O75290 Z780A_HUMAN Homo sapiens zinc finger protein 780A (ZNF780A), transcript variant 1, mRNA. 577 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding breast(2)|endometrium(1)|kidney(1)|large_intestine(7)|lung(16)|upper_aerodigestive_tract(3)|urinary_tract(1) 31 all_cancers(60;9.55e-06)|all_lung(34;1.17e-07)|Lung NSC(34;1.41e-07)|Ovarian(47;0.0925) CAGTATGCAATTTCTGATGTC 0.388 PPFIA3 8541 broad.mit.edu 37 19 49633717 49633717 + Missense_Mutation SNP C C G TCGA-06-0939-01A-01D-1353-08 TCGA-06-0939-10A-01D-1353-08 Untested Somatic Phase_I WXS none Illumina GAIIx ca1a0aa7-2b4e-4479-966f-9de854b9dddc 6a8ffcc4-f3eb-4430-a734-8a2a46fbfd95 g.chr19:49633717C>G uc002pmr.3 + 6 1072 c.740C>G c.(739-741)gCc>gGc p.A247G PPFIA3_uc010yai.2_Non-coding_Transcript|PPFIA3_uc010emt.3_Missense_Mutation_p.A171G|PPFIA3_uc010yaj.1_Non-coding_Transcript|PPFIA3_uc002pms.3_Missense_Mutation_p.A115G NM_003660 NP_003651 O75145 LIPA3_HUMAN Homo sapiens protein tyrosine phosphatase, receptor type, f polypeptide (PTPRF), interacting protein (liprin), alpha 3 (PPFIA3), mRNA. 247 cell surface|cytoplasm protein binding NS(1)|breast(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(4)|liver(2)|lung(16)|pancreas(1)|prostate(1)|skin(4)|urinary_tract(1) 35 all_lung(116;3.16e-06)|Lung NSC(112;6.25e-06)|all_neural(266;0.0189)|Ovarian(192;0.0392) all cancers(93;2.36e-05)|OV - Ovarian serous cystadenocarcinoma(262;0.000203)|GBM - Glioblastoma multiforme(486;0.00307)|Epithelial(262;0.00677) CGGCAGCGCGCCGAGGTGTGC 0.692 ZNF544 27300 broad.mit.edu 37 19 58772416 58772416 + Missense_Mutation SNP G G C TCGA-06-0939-01A-01D-1353-08 TCGA-06-0939-10A-01D-1353-08 Untested Somatic Phase_I WXS none Illumina GAIIx ca1a0aa7-2b4e-4479-966f-9de854b9dddc 6a8ffcc4-f3eb-4430-a734-8a2a46fbfd95 g.chr19:58772416G>C uc010euo.3 + 6 918 c.444G>C c.(442-444)gaG>gaC p.E148D ZNF544_uc010yhw.1_Intron|ZNF544_uc010yhx.2_Missense_Mutation_p.E120D|ZNF544_uc010yhy.2_Missense_Mutation_p.E120D|ZNF544_uc002qrt.4_Missense_Mutation_p.E6D|ZNF544_uc002qru.4_Missense_Mutation_p.E6D|BC063675_uc002qrx.1_Intron NM_014480 NP_055295 Q6NX49 ZN544_HUMAN Homo sapiens zinc finger protein 544 (ZNF544), mRNA. 148 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding NS(1)|breast(2)|endometrium(2)|kidney(1)|large_intestine(4)|lung(5)|pancreas(1)|skin(1)|urinary_tract(1) 18 all_cancers(17;4.17e-12)|all_epithelial(17;1.25e-08)|Colorectal(82;0.000256)|Lung NSC(17;0.000607)|all_lung(17;0.0024)|all_neural(62;0.0412)|Ovarian(87;0.156) UCEC - Uterine corpus endometrioid carcinoma (67;0.17)|GBM - Glioblastoma multiforme(193;0.018) TCACCTCAGAGAGACTGTTTG 0.448 PSD4 23550 broad.mit.edu 37 2 113940279 113940279 + Silent SNP C C T rs147089589 TCGA-06-0939-01A-01D-1353-08 TCGA-06-0939-10A-01D-1353-08 Untested Somatic Phase_I WXS none Illumina GAIIx ca1a0aa7-2b4e-4479-966f-9de854b9dddc 6a8ffcc4-f3eb-4430-a734-8a2a46fbfd95 g.chr2:113940279C>T uc002tjc.3 + 1 429 c.246C>T c.(244-246)gaC>gaT p.D82D PSD4_uc002tjd.3_5'UTR|PSD4_uc002tje.3_Silent_p.D81D|PSD4_uc002tjf.3_5'Flank NM_012455 NP_036587 Q8NDX1 PSD4_HUMAN Homo sapiens pleckstrin and Sec7 domain containing 4 (PSD4), mRNA. 82 regulation of ARF protein signal transduction cytoplasm|plasma membrane ARF guanyl-nucleotide exchange factor activity cervix(1)|endometrium(2)|large_intestine(4)|lung(13)|ovary(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 29 TCCATCAGGACGGGCTGGAGC 0.622 MGAT5 4249 broad.mit.edu 37 2 135107438 135107438 + Missense_Mutation SNP C C T TCGA-06-0939-01A-01D-1353-08 TCGA-06-0939-10A-01D-1353-08 Untested Somatic Phase_I WXS none Illumina GAIIx ca1a0aa7-2b4e-4479-966f-9de854b9dddc 6a8ffcc4-f3eb-4430-a734-8a2a46fbfd95 g.chr2:135107438C>T uc002ttw.4 + 8 1320 c.1175C>T c.(1174-1176)gCc>gTc p.A392V NM_002410 NP_002401 Q09328 MGT5A_HUMAN Homo sapiens mannosyl (alpha-1,6-)-glycoprotein beta-1,6-N-acetyl-glucosaminyltransferase (MGAT5), mRNA. 392 post-translational protein modification|protein N-linked glycosylation via asparagine Golgi membrane|integral to membrane alpha-1,6-mannosyl-glycoprotein 6-beta-N-acetylglucosaminyltransferase activity endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(3)|liver(1)|lung(18)|ovary(3)|pancreas(1)|skin(3) 36 BRCA - Breast invasive adenocarcinoma(221;0.0964) GCAAATTATGCCCAATCGAAA 0.413 XIRP2 129446 broad.mit.edu 37 2 168107813 168107813 + Missense_Mutation SNP G G A TCGA-06-0939-01A-01D-1353-08 TCGA-06-0939-10A-01D-1353-08 Untested Somatic Phase_I WXS none Illumina GAIIx ca1a0aa7-2b4e-4479-966f-9de854b9dddc 6a8ffcc4-f3eb-4430-a734-8a2a46fbfd95 g.chr2:168107813G>A uc002udx.3 + 8 10000 c.9911G>A c.(9910-9912)cGc>cAc p.R3304H XIRP2_uc010fpn.3_Intron|XIRP2_uc010fpo.3_Intron|XIRP2_uc002udy.3_Missense_Mutation_p.R3129H|XIRP2_uc010fpq.3_Missense_Mutation_p.R3082H|XIRP2_uc010fpr.3_Intron NM_152381 NP_689594 A4UGR9 XIRP2_HUMAN Homo sapiens xin actin-binding repeat containing 2 (XIRP2), transcript variant 1, mRNA. 3129 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 GTGCCTCCTCGCCTGTCAGAG 0.438 LRP2 4036 broad.mit.edu 37 2 170134318 170134318 + Missense_Mutation SNP C C T TCGA-06-0939-01A-01D-1353-08 TCGA-06-0939-10A-01D-1353-08 Untested Somatic Phase_I WXS none Illumina GAIIx ca1a0aa7-2b4e-4479-966f-9de854b9dddc 6a8ffcc4-f3eb-4430-a734-8a2a46fbfd95 g.chr2:170134318C>T uc002ues.3 - 12 1922 c.1709G>A c.(1708-1710)cGt>cAt p.R570H LRP2_uc010zdf.1_Intron NM_004525 NP_004516 P98164 LRP2_HUMAN Homo sapiens low density lipoprotein receptor-related protein 2 (LRP2), mRNA. 570 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.R570H(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) CCAGTAAACACGCTTCGATAT 0.408 TTN 7273 broad.mit.edu 37 2 179399105 179399108 + Frame_Shift_Del DEL TCTT TCTT - TCGA-06-0939-01A-01D-1353-08 TCGA-06-0939-10A-01D-1353-08 Untested Somatic Phase_I WXS none Illumina GAIIx ca1a0aa7-2b4e-4479-966f-9de854b9dddc 6a8ffcc4-f3eb-4430-a734-8a2a46fbfd95 g.chr2:179399105_179399108delTCTT uc021vsy.1 - 306 94755_94758 c.94530_94533delAAGA c.(94528-94533)gaaagafs p.E31510fs MIR548N_uc021vsx.1_Intron|LOC100506866_uc002umo.3_Intron|LOC100506866_uc002ump.2_Intron|TTN_uc021vsz.1_Frame_Shift_Del_p.E25205fs|TTN_uc021vta.1_Frame_Shift_Del_p.E25138fs|TTN_uc021vtb.1_Frame_Shift_Del_p.E25013fs NM_133378 NP_596869 Q8WZ42 TITIN_HUMAN Homo sapiens titin (TTN), transcript variant N2-A, mRNA. 32437 Ig-like 140. ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26) 1448 OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134) TAGTACTGACTCTTTCTATCTTCT 0.461 TTN 7273 broad.mit.edu 37 2 179544077 179544077 + Missense_Mutation SNP G G A TCGA-06-0939-01A-01D-1353-08 TCGA-06-0939-10A-01D-1353-08 Untested Somatic Phase_I WXS none Illumina GAIIx ca1a0aa7-2b4e-4479-966f-9de854b9dddc 6a8ffcc4-f3eb-4430-a734-8a2a46fbfd95 g.chr2:179544077G>A uc021vsy.1 - 138 30224 c.29999C>T c.(29998-30000)cCg>cTg p.P10000L TTN_uc021vsz.1_Intron|TTN_uc021vta.1_Intron|TTN_uc021vtb.1_Intron|TTN_uc002umz.1_Missense_Mutation_p.P6661L|TTN_uc010fre.1_Intron|TTN_uc002una.1_Non-coding_Transcript|TTN_uc010frf.1_Non-coding_Transcript NM_133378 NP_596869 Q8WZ42 TITIN_HUMAN Homo sapiens titin (TTN), transcript variant N2-A, mRNA. 10927 Glu-rich. ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26) 1448 OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134) TTTTGCTGGCGGAGGCTTCTC 0.413 SDPR 8436 broad.mit.edu 37 2 192711596 192711596 + Missense_Mutation SNP C C T TCGA-06-0939-01A-01D-1353-08 TCGA-06-0939-10A-01D-1353-08 Untested Somatic Phase_I WXS none Illumina GAIIx ca1a0aa7-2b4e-4479-966f-9de854b9dddc 6a8ffcc4-f3eb-4430-a734-8a2a46fbfd95 g.chr2:192711596C>T uc002utb.3 - 0 411 c.56G>A c.(55-57)cGg>cAg p.R19Q NM_004657 NP_004648 O95810 SDPR_HUMAN Homo sapiens serum deprivation response (SDPR), mRNA. 19 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) CTTTTCCTGCCGCATGTCAGA 0.607 NGEF 25791 broad.mit.edu 37 2 233744299 233744299 + Missense_Mutation SNP G G T TCGA-06-0939-01A-01D-1353-08 TCGA-06-0939-10A-01D-1353-08 Untested Somatic Phase_I WXS none Illumina GAIIx ca1a0aa7-2b4e-4479-966f-9de854b9dddc 6a8ffcc4-f3eb-4430-a734-8a2a46fbfd95 g.chr2:233744299G>T uc002vts.2 - 14 2281 c.2033C>A c.(2032-2034)tCc>tAc p.S678Y NGEF_uc010zmm.1_Missense_Mutation_p.S401Y|NGEF_uc010fyg.1_Missense_Mutation_p.S586Y NM_019850 NP_062824 Q8N5V2 NGEF_HUMAN Homo sapiens neuronal guanine nucleotide exchange factor (NGEF), transcript variant 1, mRNA. 678 apoptosis|cell differentiation|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|nervous system development|regulation of Rho protein signal transduction|small GTPase mediated signal transduction cytosol|growth cone|plasma membrane Rho guanyl-nucleotide exchange factor activity p.R677Q(1) central_nervous_system(4)|endometrium(8)|kidney(2)|large_intestine(3)|lung(10)|ovary(3)|pancreas(1)|skin(4) 35 Breast(86;0.00279)|Renal(207;0.00339)|all_hematologic(139;0.00793)|Acute lymphoblastic leukemia(138;0.0182)|all_lung(227;0.0271)|Lung NSC(271;0.0839) Epithelial(121;8.65e-17)|BRCA - Breast invasive adenocarcinoma(100;0.00037)|LUSC - Lung squamous cell carcinoma(224;0.00813)|Lung(119;0.00984)|GBM - Glioblastoma multiforme(43;0.0604) GAGGTTCTGGGACCGGATCTT 0.582 MYH7B 57644 broad.mit.edu 37 20 33586908 33586908 + Missense_Mutation SNP G G A TCGA-06-0939-01A-01D-1353-08 TCGA-06-0939-10A-01D-1353-08 Untested Somatic Phase_I WXS none Illumina GAIIx ca1a0aa7-2b4e-4479-966f-9de854b9dddc 6a8ffcc4-f3eb-4430-a734-8a2a46fbfd95 g.chr20:33586908G>A uc002xbi.2 + 35 4683 c.4366G>A c.(4366-4368)Gcc>Acc p.A1456T NM_020884 NP_065935 A7E2Y1 MYH7B_HUMAN Homo sapiens myosin, heavy chain 7B, cardiac muscle, beta (MYH7B), mRNA. 1414 membrane|myosin filament actin binding|ATP binding|motor activity NS(2)|breast(5)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(8)|lung(19)|ovary(5)|prostate(3)|upper_aerodigestive_tract(2)|urinary_tract(3) 54 BRCA - Breast invasive adenocarcinoma(18;0.00691) CGTGGAGGCTGCCAACGCCAA 0.607 SALL4 57167 broad.mit.edu 37 20 50407987 50407987 + Silent SNP C C T TCGA-06-0939-01A-01D-1353-08 TCGA-06-0939-10A-01D-1353-08 Untested Somatic Phase_I WXS none Illumina GAIIx ca1a0aa7-2b4e-4479-966f-9de854b9dddc 6a8ffcc4-f3eb-4430-a734-8a2a46fbfd95 g.chr20:50407987C>T uc002xwh.4 - 1 1136 c.1035G>A c.(1033-1035)caG>caA p.Q345Q SALL4_uc010gii.3_Silent_p.Q345Q|SALL4_uc002xwi.4_Intron NM_020436 NP_065169 Q9UJQ4 SALL4_HUMAN Homo sapiens sal-like 4 (Drosophila) (SALL4), mRNA. 345 transcription, DNA-dependent nucleus DNA binding|zinc ion binding endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(7)|lung(27)|ovary(5)|prostate(2)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1) 63 AGAAAGGGCTCTGGAAGAGCA 0.632 COL20A1 57642 broad.mit.edu 37 20 61942767 61942767 + Missense_Mutation SNP C C T TCGA-06-0939-01A-01D-1353-08 TCGA-06-0939-10A-01D-1353-08 Untested Somatic Phase_I WXS none Illumina GAIIx ca1a0aa7-2b4e-4479-966f-9de854b9dddc 6a8ffcc4-f3eb-4430-a734-8a2a46fbfd95 g.chr20:61942767C>T uc011aau.2 + 11 1515 c.1415C>T c.(1414-1416)gCg>gTg p.A472V COL20A1_uc011aav.2_Missense_Mutation_p.A293V NM_020882 NP_065933 Q9P218 COKA1_HUMAN Homo sapiens collagen, type XX, alpha 1 (COL20A1), mRNA. 472 Fibronectin type-III 3. cell adhesion collagen|extracellular space structural molecule activity p.R471L(1) NS(3)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(1)|lung(21)|ovary(1)|prostate(3)|urinary_tract(2) 36 all_cancers(38;1.39e-10) CCGCCCCGGGCGCTGACCCTG 0.687 CCT8L2 150160 broad.mit.edu 37 22 17072541 17072541 + Silent SNP G G A TCGA-06-0939-01A-01D-1353-08 TCGA-06-0939-10A-01D-1353-08 Untested Somatic Phase_I WXS none Illumina GAIIx ca1a0aa7-2b4e-4479-966f-9de854b9dddc 6a8ffcc4-f3eb-4430-a734-8a2a46fbfd95 g.chr22:17072541G>A uc002zlp.1 - 0 1160 c.900C>T c.(898-900)gaC>gaT p.D300D NM_014406 NP_055221 Q96SF2 TCPQM_HUMAN Homo sapiens chaperonin containing TCP1, subunit 8 (theta)-like 2 (CCT8L2), mRNA. 300 cellular protein metabolic process cytoplasm anion channel activity|ATP binding|calcium-activated potassium channel activity breast(3)|endometrium(7)|kidney(1)|large_intestine(8)|liver(2)|lung(37)|ovary(3)|prostate(3)|skin(2)|stomach(1) 67 all_hematologic(4;0.00567)|Acute lymphoblastic leukemia(84;0.0977) all_epithelial(15;0.0157)|Lung NSC(13;0.147)|all_lung(157;0.175) GGGTCTCCTCGTCGACCTCCC 0.493 PARVG 64098 broad.mit.edu 37 22 44586519 44586519 + Silent SNP C C T rs3842780 byFrequency TCGA-06-0939-01A-01D-1353-08 TCGA-06-0939-10A-01D-1353-08 Untested Somatic Phase_I WXS none Illumina GAIIx ca1a0aa7-2b4e-4479-966f-9de854b9dddc 6a8ffcc4-f3eb-4430-a734-8a2a46fbfd95 g.chr22:44586519C>T uc011aqe.2 + 6 901 c.477C>T c.(475-477)aaC>aaT p.N159N PARVG_uc003bep.3_Silent_p.N159N|PARVG_uc011aqf.2_Silent_p.N159N|PARVG_uc021wrc.1_Non-coding_Transcript NM_001137605 NP_071424 Q9HBI0 PARVG_HUMAN Homo sapiens parvin, gamma (PARVG), transcript variant 2, mRNA. 159 cell-matrix adhesion cytoplasm|cytoskeleton|focal adhesion actin binding endometrium(2)|kidney(1)|large_intestine(4)|lung(10) 17 Ovarian(80;0.024)|all_neural(38;0.0299) TCCCAACCAACGTCCAGGTGG 0.602 PPARG 5468 broad.mit.edu 37 3 12447429 12447429 + Missense_Mutation SNP C C T TCGA-06-0939-01A-01D-1353-08 TCGA-06-0939-10A-01D-1353-08 Untested Somatic Phase_I WXS none Illumina GAIIx ca1a0aa7-2b4e-4479-966f-9de854b9dddc 6a8ffcc4-f3eb-4430-a734-8a2a46fbfd95 g.chr3:12447429C>T uc003bwx.3 + 4 759 c.668C>T c.(667-669)gCg>gTg p.A223V PPARG_uc003bwr.3_Missense_Mutation_p.A195V|PPARG_uc003bws.3_Missense_Mutation_p.A195V|PPARG_uc003bwu.3_Missense_Mutation_p.A195V|PPARG_uc003bwv.3_Missense_Mutation_p.A195V|PPARG_uc010hea.1_Non-coding_Transcript|PPARG_uc003bwt.1_Missense_Mutation_p.A195V|PPARG_uc003bww.1_Missense_Mutation_p.A223V NM_015869 NP_619726 P37231 PPARG_HUMAN Homo sapiens peroxisome proliferator-activated receptor gamma (PPARG), transcript variant 2, mRNA. 223 Interaction with FAM120B (By similarity). activation of caspase activity|cell fate commitment|cell maturation|cellular response to insulin stimulus|epithelial cell differentiation|glucose homeostasis|induction of apoptosis|innate immune response|lipid homeostasis|lipoprotein transport|long-chain fatty acid transport|low-density lipoprotein particle receptor biosynthetic process|monocyte differentiation|negative regulation of cholesterol storage|negative regulation of interferon-gamma-mediated signaling pathway|negative regulation of macrophage derived foam cell differentiation|negative regulation of receptor biosynthetic process|negative regulation of sequestering of triglyceride|negative regulation of transcription from RNA polymerase II promoter|placenta development|positive regulation of fat cell differentiation|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of transcription from RNA polymerase II promoter|regulation of blood pressure|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor|response to lipid|response to low-density lipoprotein particle stimulus|white fat cell differentiation cytosol|nucleoplasm activating transcription factor binding|arachidonic acid binding|drug binding|enzyme binding|prostaglandin receptor activity|retinoid X receptor binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|steroid hormone receptor activity|transcription regulatory region DNA binding|zinc ion binding p.A223A(1) PAX8/PPARG(117) breast(2)|endometrium(4)|kidney(3)|large_intestine(1)|lung(6)|ovary(1)|prostate(1)|skin(1)|stomach(1) 20 Atorvastatin(DB01076)|Icosapent(DB00159)|Pioglitazone(DB01132)|Rosiglitazone(DB00412)|Troglitazone(DB00197) AAGCTGTTGGCGGAGATCTCC 0.512 T PAX8 follicular thyroid """Insulin resistance ; lipodystrophy, familial partial L;diabetes mellitus, insulin-resistantI, with acanthosis nigricans and hypertension""" C3orf72 401089 broad.mit.edu 37 3 138669148 138669148 + Missense_Mutation SNP C C T TCGA-06-0939-01A-01D-1353-08 TCGA-06-0939-10A-01D-1353-08 Untested Somatic Phase_I WXS none Illumina GAIIx ca1a0aa7-2b4e-4479-966f-9de854b9dddc 6a8ffcc4-f3eb-4430-a734-8a2a46fbfd95 g.chr3:138669148C>T uc003esx.1 + 2 393 c.262C>T c.(262-264)Cgg>Tgg p.R88W AK304483_uc011bmr.2_3'UTR NM_001040061 NP_001035150 Q6ZUU3 CC072_HUMAN Homo sapiens chromosome 3 open reading frame 72 (C3orf72), mRNA. 88 large_intestine(1)|lung(3) 4 GCCCGCGCCTCGGGCTTCCGG 0.692 SUCNR1 56670 broad.mit.edu 37 3 151598459 151598459 + Missense_Mutation SNP T T C TCGA-06-0939-01A-01D-1353-08 TCGA-06-0939-10A-01D-1353-08 Untested Somatic Phase_I WXS none Illumina GAIIx ca1a0aa7-2b4e-4479-966f-9de854b9dddc 6a8ffcc4-f3eb-4430-a734-8a2a46fbfd95 g.chr3:151598459T>C uc003ezf.2 + 2 233 c.128T>C c.(127-129)aTt>aCt p.I43T NM_033050 NP_149039 Q9BXA5 SUCR1_HUMAN Homo sapiens succinate receptor 1 (SUCNR1), mRNA. 43 integral to membrane|plasma membrane purinergic nucleotide receptor activity, G-protein coupled endometrium(2)|large_intestine(2)|lung(6)|ovary(1)|prostate(1)|skin(1)|urinary_tract(1) 14 LUSC - Lung squamous cell carcinoma(72;0.0394)|Lung(72;0.0813) Succinic acid(DB00139) GGAAATACCATTGTTGTTTAC 0.433 ZNF732 654254 broad.mit.edu 37 4 266352 266352 + Silent SNP A A G TCGA-06-0939-01A-01D-1353-08 TCGA-06-0939-10A-01D-1353-08 Untested Somatic Phase_I WXS none Illumina GAIIx ca1a0aa7-2b4e-4479-966f-9de854b9dddc 6a8ffcc4-f3eb-4430-a734-8a2a46fbfd95 g.chr4:266352A>G uc021xka.1 - 3 294 c.294T>C c.(292-294)ctT>ctC p.L98L ZNF732_uc011buu.1_Silent_p.L66L NM_001137608 NP_001131080 B4DXR9 ZN732_HUMAN Homo sapiens zinc finger protein 732 (ZNF732), mRNA. 98 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding endometrium(1)|lung(2) 3 TTCTTAATATAAGTTTGTGGA 0.328 WDR19 57728 broad.mit.edu 37 4 39267694 39267694 + Silent SNP C C T TCGA-06-0939-01A-01D-1353-08 TCGA-06-0939-10A-01D-1353-08 Untested Somatic Phase_I WXS none Illumina GAIIx ca1a0aa7-2b4e-4479-966f-9de854b9dddc 6a8ffcc4-f3eb-4430-a734-8a2a46fbfd95 g.chr4:39267694C>T uc003gtv.3 + 28 3349 c.3195C>T c.(3193-3195)gcC>gcT p.A1065A WDR19_uc011byi.2_Silent_p.A905A|WDR19_uc003gtw.1_Silent_p.A662A NM_025132 NP_079408 Q8NEZ3 WDR19_HUMAN Homo sapiens WD repeat domain 19 (WDR19), mRNA. 1065 cell projection organization microtubule basal body|motile cilium|photoreceptor connecting cilium binding large_intestine(1) 1 TTGGTCAGGCCAAAGATGAAC 0.473 GUCY1B3 2983 broad.mit.edu 37 4 156721201 156721201 + Nonsense_Mutation SNP G G T TCGA-06-0939-01A-01D-1353-08 TCGA-06-0939-10A-01D-1353-08 Untested Somatic Phase_I WXS none Illumina GAIIx ca1a0aa7-2b4e-4479-966f-9de854b9dddc 6a8ffcc4-f3eb-4430-a734-8a2a46fbfd95 g.chr4:156721201G>T uc003ipc.3 + 8 1317 c.1150G>T c.(1150-1152)Gaa>Taa p.E384* GUCY1B3_uc011cio.2_Nonsense_Mutation_p.E406*|GUCY1B3_uc011cip.2_Nonsense_Mutation_p.E364*|GUCY1B3_uc003ipd.3_Nonsense_Mutation_p.E312*|GUCY1B3_uc010iqf.3_Nonsense_Mutation_p.E384*|GUCY1B3_uc010iqg.3_Nonsense_Mutation_p.E312*|GUCY1B3_uc011ciq.2_Nonsense_Mutation_p.E312* NM_000857 NP_000848 Q02153 GCYB1_HUMAN Homo sapiens guanylate cyclase 1, soluble, beta 3 (GUCY1B3), mRNA. 384 blood circulation|intracellular signal transduction|nitric oxide mediated signal transduction|platelet activation guanylate cyclase complex, soluble|intracellular membrane-bounded organelle GTP binding|guanylate cyclase activity|receptor activity p.L383L(1) NS(1)|endometrium(2)|kidney(1)|large_intestine(9)|lung(8)|ovary(2)|pancreas(1)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 28 all_hematologic(180;0.24) Renal(120;0.0854) COAD - Colon adenocarcinoma(41;0.148) AAGAGCCCTGGAAGATGAAAA 0.393 KIAA0947 23379 broad.mit.edu 37 5 5464090 5464090 + Missense_Mutation SNP C C G TCGA-06-0939-01A-01D-1353-08 TCGA-06-0939-10A-01D-1353-08 Untested Somatic Phase_I WXS none Illumina GAIIx ca1a0aa7-2b4e-4479-966f-9de854b9dddc 6a8ffcc4-f3eb-4430-a734-8a2a46fbfd95 g.chr5:5464090C>G uc003jdm.4 + 12 4865 c.4643C>G c.(4642-4644)cCa>cGa p.P1548R NM_015325 NP_056140 Q9Y2F5 K0947_HUMAN Homo sapiens KIAA0947 (KIAA0947), mRNA. 1548 breast(2)|central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(5)|lung(14)|ovary(1)|prostate(4)|upper_aerodigestive_tract(1) 35 AAACTAGAGCCATCTGGCAAA 0.358 BDP1 55814 broad.mit.edu 37 5 70806902 70806902 + Missense_Mutation SNP C C A TCGA-06-0939-01A-01D-1353-08 TCGA-06-0939-10A-01D-1353-08 Untested Somatic Phase_I WXS none Illumina GAIIx ca1a0aa7-2b4e-4479-966f-9de854b9dddc 6a8ffcc4-f3eb-4430-a734-8a2a46fbfd95 g.chr5:70806902C>A uc003kbp.1 + 16 4246 c.3983C>A c.(3982-3984)aCc>aAc p.T1328N BDP1_uc003kbn.1_Missense_Mutation_p.T1328N|BDP1_uc003kbo.3_Missense_Mutation_p.T1328N NM_018429 NP_060899 A6H8Y1 BDP1_HUMAN Homo sapiens B double prime 1, subunit of RNA polymerase III transcription initiation factor IIIB (BDP1), mRNA. 1328 regulation of transcription, DNA-dependent|transcription from RNA polymerase III promoter nucleoplasm DNA binding NS(2)|breast(3)|cervix(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(13)|lung(34)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 72 Lung NSC(167;0.000422)|Prostate(74;0.00815)|Ovarian(174;0.0176)|Breast(144;0.198) OV - Ovarian serous cystadenocarcinoma(47;5.28e-56)|Epithelial(20;2.31e-50) GAGACCAGTACCTCAAGACAA 0.408 SV2C 22987 broad.mit.edu 37 5 75428010 75428010 + Silent SNP C C T TCGA-06-0939-01A-01D-1353-08 TCGA-06-0939-10A-01D-1353-08 Untested Somatic Phase_I WXS none Illumina GAIIx ca1a0aa7-2b4e-4479-966f-9de854b9dddc 6a8ffcc4-f3eb-4430-a734-8a2a46fbfd95 g.chr5:75428010C>T uc003kei.1 + 1 569 c.435C>T c.(433-435)tgC>tgT p.C145C NM_014979 NP_055794 Q496J9 SV2C_HUMAN Homo sapiens synaptic vesicle glycoprotein 2C (SV2C), mRNA. 145 neurotransmitter transport cell junction|integral to membrane|synaptic vesicle membrane transmembrane transporter activity NS(1)|breast(1)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(5)|lung(14)|ovary(1)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 37 all_lung(232;0.007)|Lung NSC(167;0.0148)|Ovarian(174;0.0798)|Prostate(461;0.184) OV - Ovarian serous cystadenocarcinoma(47;1.16e-50)|all cancers(79;7.25e-40) TCCAAGAATGCGGTCATGGTC 0.537 FAM81B 153643 broad.mit.edu 37 5 94749868 94749868 + Missense_Mutation SNP G G A TCGA-06-0939-01A-01D-1353-08 TCGA-06-0939-10A-01D-1353-08 Untested Somatic Phase_I WXS none Illumina GAIIx ca1a0aa7-2b4e-4479-966f-9de854b9dddc 6a8ffcc4-f3eb-4430-a734-8a2a46fbfd95 g.chr5:94749868G>A uc003kla.1 + 3 557 c.511G>A c.(511-513)Gtc>Atc p.V171I FAM81B_uc010jbe.1_5'UTR NM_152548 NP_689761 Q96LP2 FA81B_HUMAN Homo sapiens family with sequence similarity 81, member B (FAM81B), mRNA. 171 central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(4)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 22 all_cancers(142;1.1e-06)|all_epithelial(76;1.48e-09)|all_lung(232;0.000696)|Lung NSC(167;0.000947)|Ovarian(225;0.00473) all cancers(79;1.04e-16) CACCAGCATCGTCAAAAAACT 0.418 PCDHAC2 56147 broad.mit.edu 37 5 140166149 140166149 + Missense_Mutation SNP C C T TCGA-06-0939-01A-01D-1353-08 TCGA-06-0939-10A-01D-1353-08 Untested Somatic Phase_I WXS none Illumina GAIIx ca1a0aa7-2b4e-4479-966f-9de854b9dddc 6a8ffcc4-f3eb-4430-a734-8a2a46fbfd95 g.chr5:140166149C>T uc003lhb.2 + 0 274 c.274C>T c.(274-276)Cgc>Tgc p.R92C PCDHAC2_uc003lha.2_Missense_Mutation_p.R92C|PCDHAC2_uc003lgz.3_Missense_Mutation_p.R92C NM_018900 NP_061723 Q9Y5I4 PCDC2_HUMAN Homo sapiens protocadherin alpha 1 (PCDHA1), transcript variant 1, mRNA. 107 Cadherin 1. homophilic cell adhesion|nervous system development integral to plasma membrane calcium ion binding NS(1)|breast(1)|endometrium(4)|kidney(4)|large_intestine(10)|liver(2)|lung(9)|ovary(2)|prostate(1)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(1) 45 KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191) TCGGATCGATCGCGAGGAGCT 0.567 MED7 9443 broad.mit.edu 37 5 156565766 156565766 + Missense_Mutation SNP A A G TCGA-06-0939-01A-01D-1353-08 TCGA-06-0939-10A-01D-1353-08 Untested Somatic Phase_I WXS none Illumina GAIIx ca1a0aa7-2b4e-4479-966f-9de854b9dddc 6a8ffcc4-f3eb-4430-a734-8a2a46fbfd95 g.chr5:156565766A>G uc010jik.3 - 1 1069 c.677T>C c.(676-678)aTt>aCt p.I226T MED7_uc003lwm.4_Missense_Mutation_p.I226T|MED7_uc021ygl.1_Missense_Mutation_p.I226T NM_001100816 NP_004261 O43513 MED7_HUMAN Homo sapiens mediator complex subunit 7 (MED7), transcript variant 1, mRNA. 226 regulation of transcription from RNA polymerase II promoter|transcription initiation from RNA polymerase II promoter mediator complex|transcription factor complex protein binding|transcription coactivator activity kidney(1)|large_intestine(1)|lung(3)|urinary_tract(2) 7 Renal(175;0.00212) Medulloblastoma(196;0.0354)|all_neural(177;0.0999) Kidney(164;0.000171)|KIRC - Kidney renal clear cell carcinoma(164;0.000785) CATCTCATCAATTAGGACACA 0.323 ADAMTS2 9509 broad.mit.edu 37 5 178581109 178581109 + Silent SNP G G A TCGA-06-0939-01A-01D-1353-08 TCGA-06-0939-10A-01D-1353-08 Untested Somatic Phase_I WXS none Illumina GAIIx ca1a0aa7-2b4e-4479-966f-9de854b9dddc 6a8ffcc4-f3eb-4430-a734-8a2a46fbfd95 g.chr5:178581109G>A uc003mjw.3 - 7 1425 c.1323C>T c.(1321-1323)gcC>gcT p.A441A ADAMTS2_uc011dgm.2_Silent_p.A441A NM_014244 NP_055059 O95450 ATS2_HUMAN Homo sapiens ADAM metallopeptidase with thrombospondin type 1 motif, 2 (ADAMTS2), transcript variant 1, mRNA. 441 Peptidase M12B. collagen catabolic process proteinaceous extracellular matrix metalloendopeptidase activity|zinc ion binding breast(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(15)|lung(31)|ovary(1)|pancreas(3)|prostate(2)|skin(7) 72 all_cancers(89;0.000456)|all_epithelial(37;0.000138)|Renal(175;0.000159)|Lung NSC(126;0.00184)|all_lung(126;0.00326) all_cancers(40;0.00604)|all_neural(177;0.00411)|Medulloblastoma(196;0.00508)|Lung NSC(249;0.0569)|all_lung(500;0.129)|all_hematologic(541;0.211) Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178) GBM - Glioblastoma multiforme(465;0.0473) GGTGGAAGGCGGCCTGCACCA 0.711 MUT 4594 broad.mit.edu 37 6 49419405 49419405 + Missense_Mutation SNP C C T TCGA-06-0939-01A-01D-1353-08 TCGA-06-0939-10A-01D-1353-08 Untested Somatic Phase_I WXS none Illumina GAIIx ca1a0aa7-2b4e-4479-966f-9de854b9dddc 6a8ffcc4-f3eb-4430-a734-8a2a46fbfd95 g.chr6:49419405C>T uc003ozg.4 - 5 1371 c.1106G>A c.(1105-1107)cGt>cAt p.R369H NM_000255 NP_000246 P22033 MUTA_HUMAN Homo sapiens methylmalonyl CoA mutase (MUT), nuclear gene encoding mitochondrial protein, mRNA. 369 R -> C (in MMAM; mut0).|R -> H (in MMAM; mut- and mut0). fatty acid beta-oxidation mitochondrial matrix cobalamin binding|metal ion binding|methylmalonyl-CoA mutase activity endometrium(2)|kidney(1)|large_intestine(4)|lung(17)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1) 30 Lung NSC(77;0.0376) Cyanocobalamin(DB00115)|Hydroxocobalamin(DB00200) TATTGCAGTACGGACAATATT 0.348 ZNF451 26036 broad.mit.edu 37 6 56963890 56963890 + Missense_Mutation SNP T T C TCGA-06-0939-01A-01D-1353-08 TCGA-06-0939-10A-01D-1353-08 Untested Somatic Phase_I WXS none Illumina GAIIx ca1a0aa7-2b4e-4479-966f-9de854b9dddc 6a8ffcc4-f3eb-4430-a734-8a2a46fbfd95 g.chr6:56963890T>C uc003pdm.1 + 2 361 c.137T>C c.(136-138)aTt>aCt p.I46T ZNF451_uc003pdl.3_Missense_Mutation_p.I46T|ZNF451_uc003pdn.1_Missense_Mutation_p.I46T|ZNF451_uc011dxn.2_Missense_Mutation_p.I46T|ZNF451_uc003pdk.1_Missense_Mutation_p.I46T|ZNF451_uc003pdo.3_Non-coding_Transcript|ZNF451_uc003pdp.3_5'Flank NM_001031623 NP_001026794 Q9Y4E5 ZN451_HUMAN Homo sapiens zinc finger protein 451 (ZNF451), transcript variant 1, mRNA. 46 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|protein binding|zinc ion binding central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(12)|ovary(1)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1) 32 Lung NSC(77;0.145) LUSC - Lung squamous cell carcinoma(124;0.0785)|Lung(124;0.13) CTTGAATACATTGATCTGGTC 0.338 SIM1 6492 broad.mit.edu 37 6 100896122 100896122 + Silent SNP C C T TCGA-06-0939-01A-01D-1353-08 TCGA-06-0939-10A-01D-1353-08 Untested Somatic Phase_I WXS none Illumina GAIIx ca1a0aa7-2b4e-4479-966f-9de854b9dddc 6a8ffcc4-f3eb-4430-a734-8a2a46fbfd95 g.chr6:100896122C>T uc003pqj.4 - 6 1217 c.750G>A c.(748-750)gcG>gcA p.A250A SIM1_uc021zdg.1_Silent_p.A250A|SIM1_uc010kcu.3_Silent_p.A250A NM_005068 NP_005059 P81133 SIM1_HUMAN Homo sapiens single-minded homolog 1 (Drosophila) (SIM1), mRNA. 250 PAS 2. cell differentiation|nervous system development nucleus DNA binding|sequence-specific DNA binding transcription factor activity|signal transducer activity breast(1)|central_nervous_system(4)|endometrium(5)|kidney(1)|large_intestine(15)|lung(34)|ovary(4)|prostate(1)|skin(5)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(5) 79 all_cancers(76;9.88e-06)|Acute lymphoblastic leukemia(125;4.99e-11)|all_hematologic(75;5.82e-08)|all_epithelial(107;0.0248)|Colorectal(196;0.13) BRCA - Breast invasive adenocarcinoma(108;0.0774) CCGTCAGCTCCGCCACCCTGA 0.627 AIM1 202 broad.mit.edu 37 6 107008787 107008787 + Nonsense_Mutation SNP C C T TCGA-06-0939-01A-01D-1353-08 TCGA-06-0939-10A-01D-1353-08 Untested Somatic Phase_I WXS none Illumina GAIIx ca1a0aa7-2b4e-4479-966f-9de854b9dddc 6a8ffcc4-f3eb-4430-a734-8a2a46fbfd95 g.chr6:107008787C>T uc003prh.3 + 16 5653 c.4741C>T c.(4741-4743)Cga>Tga p.R1581* AIM1_uc003pri.3_Nonsense_Mutation_p.R385* NM_001624 NP_001615 Q9Y4K1 AIM1_HUMAN Homo sapiens absent in melanoma 1 (AIM1), mRNA. 1581 Beta/gamma crystallin 'Greek key' 12. sugar binding p.R1581Q(1) breast(8)|central_nervous_system(1)|cervix(2)|endometrium(6)|kidney(7)|large_intestine(13)|lung(20)|ovary(5)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(2) 69 Breast(9;0.0138)|all_epithelial(6;0.169) all_cancers(87;4.67e-25)|all_epithelial(87;5.46e-21)|Acute lymphoblastic leukemia(125;2.15e-07)|all_hematologic(75;5.28e-06)|Colorectal(196;3.46e-05)|all_lung(197;5.94e-05)|Lung NSC(302;7.26e-05)|Ovarian(999;0.00473) Epithelial(6;0.00114)|all cancers(7;0.00726)|BRCA - Breast invasive adenocarcinoma(8;0.0114)|OV - Ovarian serous cystadenocarcinoma(5;0.0305) all cancers(137;1.73e-50)|Epithelial(106;2.42e-48)|OV - Ovarian serous cystadenocarcinoma(136;1.51e-27)|BRCA - Breast invasive adenocarcinoma(108;0.00104)|GBM - Glioblastoma multiforme(226;0.00858) AGGTTCTCTACGACCTTTTGT 0.378 HECA 51696 broad.mit.edu 37 6 139488187 139488187 + Silent SNP G G A TCGA-06-0939-01A-01D-1353-08 TCGA-06-0939-10A-01D-1353-08 Untested Somatic Phase_I WXS none Illumina GAIIx ca1a0aa7-2b4e-4479-966f-9de854b9dddc 6a8ffcc4-f3eb-4430-a734-8a2a46fbfd95 g.chr6:139488187G>A uc003qin.3 + 1 1323 c.1038G>A c.(1036-1038)cgG>cgA p.R346R NM_016217 NP_057301 Q9UBI9 HDC_HUMAN Homo sapiens headcase homolog (Drosophila) (HECA), mRNA. 346 respiratory tube development p.R346W(1) endometrium(4)|kidney(1)|large_intestine(3)|lung(4)|ovary(1)|prostate(1)|skin(1) 15 GBM - Glioblastoma multiforme(68;0.000252)|OV - Ovarian serous cystadenocarcinoma(155;0.000387) TCCTTCGGCGGCTGGACCTCT 0.597 SNX9 51429 broad.mit.edu 37 6 158357061 158357061 + Missense_Mutation SNP G G T TCGA-06-0939-01A-01D-1353-08 TCGA-06-0939-10A-01D-1353-08 Untested Somatic Phase_I WXS none Illumina GAIIx ca1a0aa7-2b4e-4479-966f-9de854b9dddc 6a8ffcc4-f3eb-4430-a734-8a2a46fbfd95 g.chr6:158357061G>T uc003qqv.1 + 13 1605 c.1432G>T c.(1432-1434)Gtg>Ttg p.V478L NM_016224 NP_057308 Q9Y5X1 SNX9_HUMAN Homo sapiens sorting nexin 9 (SNX9), mRNA. 478 BAR. cell communication|intracellular protein transport|lipid tube assembly|positive regulation of GTPase activity|positive regulation of protein oligomerization|receptor-mediated endocytosis clathrin-coated vesicle|cytoplasmic vesicle membrane|extrinsic to internal side of plasma membrane|ruffle|trans-Golgi network 1-phosphatidylinositol binding|protein homodimerization activity|ubiquitin protein ligase binding p.V478V(1) central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(3)|lung(10)|skin(1)|upper_aerodigestive_tract(1) 20 Breast(66;0.000776)|Ovarian(120;0.0303)|Prostate(117;0.167) OV - Ovarian serous cystadenocarcinoma(65;8.06e-18)|BRCA - Breast invasive adenocarcinoma(81;4.48e-05) TGCCAGTCTCGTGGCAGAACA 0.348 STK31 56164 broad.mit.edu 37 7 23827708 23827708 + Missense_Mutation SNP A A G TCGA-06-0939-01A-01D-1353-08 TCGA-06-0939-10A-01D-1353-08 Untested Somatic Phase_I WXS none Illumina GAIIx ca1a0aa7-2b4e-4479-966f-9de854b9dddc 6a8ffcc4-f3eb-4430-a734-8a2a46fbfd95 g.chr7:23827708A>G uc003sws.4 + 20 2664 c.2597A>G c.(2596-2598)gAa>gGa p.E866G STK31_uc003swt.4_Missense_Mutation_p.E843G|STK31_uc011jze.2_Missense_Mutation_p.E866G|STK31_uc010kuq.3_Missense_Mutation_p.E843G|STK31_uc003swv.1_Missense_Mutation_p.E32G NM_031414 NP_116562 Q9BXU1 STK31_HUMAN Homo sapiens serine/threonine kinase 31 (STK31), transcript variant 1, mRNA. 866 Protein kinase. ATP binding|nucleic acid binding|protein serine/threonine kinase activity breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(12)|lung(31)|ovary(2)|prostate(1)|skin(7)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(1) 67 TTAAACCGTGAACAAGGAATT 0.353 C7orf10 79783 broad.mit.edu 37 7 40356417 40356417 + Missense_Mutation SNP G G A TCGA-06-0939-01A-01D-1353-08 TCGA-06-0939-10A-01D-1353-08 Untested Somatic Phase_I WXS none Illumina GAIIx ca1a0aa7-2b4e-4479-966f-9de854b9dddc 6a8ffcc4-f3eb-4430-a734-8a2a46fbfd95 g.chr7:40356417G>A uc022acd.1 + 8 824 c.800G>A c.(799-801)cGt>cAt p.R267H C7orf10_uc003thn.2_Missense_Mutation_p.R267H|C7orf10_uc003tho.2_Missense_Mutation_p.R219H NM_001193311 NP_001180240 Q9HAC7 CG010_HUMAN Homo sapiens chromosome 7 open reading frame 10 (C7orf10), transcript variant 1, mRNA. 267 transferase activity endometrium(3)|kidney(1)|large_intestine(2)|lung(10)|ovary(2) 18 GAAGCAAAACGTTGGGGTACA 0.388 MUC17 140453 broad.mit.edu 37 7 100679249 100679249 + Missense_Mutation SNP A A G TCGA-06-0939-01A-01D-1353-08 TCGA-06-0939-10A-01D-1353-08 Untested Somatic Phase_I WXS none Illumina GAIIx ca1a0aa7-2b4e-4479-966f-9de854b9dddc 6a8ffcc4-f3eb-4430-a734-8a2a46fbfd95 g.chr7:100679249A>G uc003uxp.1 + 2 4605 c.4552A>G c.(4552-4554)Agt>Ggt p.S1518G MUC17_uc010lho.1_Non-coding_Transcript NM_001040105 NP_001035194 Q685J3 MUC17_HUMAN Homo sapiens mucin 17, cell surface associated (MUC17), mRNA. 1518 59 X approximate tandem repeats.|Ser-rich. extracellular region|integral to membrane|plasma membrane extracellular matrix constituent, lubricant activity NS(3)|breast(14)|central_nervous_system(2)|cervix(2)|endometrium(27)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(28)|lung(179)|ovary(19)|pancreas(1)|prostate(13)|skin(26)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(4) 343 Lung NSC(181;0.136)|all_lung(186;0.182) TGCATTAACAAGTATACCTGT 0.483 KCNU1 157855 broad.mit.edu 37 8 36768588 36768588 + Silent SNP C C T TCGA-06-0939-01A-01D-1353-08 TCGA-06-0939-10A-01D-1353-08 Untested Somatic Phase_I WXS none Illumina GAIIx ca1a0aa7-2b4e-4479-966f-9de854b9dddc 6a8ffcc4-f3eb-4430-a734-8a2a46fbfd95 g.chr8:36768588C>T uc010lvw.3 + 21 2559 c.2472C>T c.(2470-2472)atC>atT p.I824I KCNU1_uc003xjw.2_Non-coding_Transcript NM_001031836 NP_001027006 A8MYU2 KCNU1_HUMAN Homo sapiens potassium channel, subfamily U, member 1 (KCNU1), mRNA. 824 voltage-gated potassium channel complex binding|large conductance calcium-activated potassium channel activity|voltage-gated potassium channel activity breast(4)|central_nervous_system(1)|cervix(1)|endometrium(8)|kidney(1)|large_intestine(9)|lung(31)|ovary(1)|urinary_tract(1) 57 KIRC - Kidney renal clear cell carcinoma(67;0.0504)|Kidney(114;0.0634) CCCTCACCATCGGATCCTTGC 0.512 ST18 9705 broad.mit.edu 37 8 53085003 53085003 + Missense_Mutation SNP C C T TCGA-06-0939-01A-01D-1353-08 TCGA-06-0939-10A-01D-1353-08 Untested Somatic Phase_I WXS none Illumina GAIIx ca1a0aa7-2b4e-4479-966f-9de854b9dddc 6a8ffcc4-f3eb-4430-a734-8a2a46fbfd95 g.chr8:53085003C>T uc003xqz.2 - 4 574 c.418G>A c.(418-420)Gta>Ata p.V140I ST18_uc011ldq.1_5'UTR|ST18_uc011ldr.1_Missense_Mutation_p.V105I|ST18_uc011lds.1_Missense_Mutation_p.V45I|ST18_uc003xra.2_Missense_Mutation_p.V140I|ST18_uc003xrb.2_Missense_Mutation_p.V140I NM_014682 NP_055497 O60284 ST18_HUMAN Homo sapiens suppression of tumorigenicity 18 (breast carcinoma) (zinc finger protein) (ST18), mRNA. 140 nucleus DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding NS(1)|breast(2)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(14)|lung(38)|ovary(4)|prostate(2)|skin(11)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(2) 85 Lung NSC(129;0.131)|all_epithelial(80;0.217)|all_lung(136;0.229) TGAACAGATACATTTTTTTCA 0.383 NSMAF 8439 broad.mit.edu 37 8 59548070 59548070 + Missense_Mutation SNP G G A rs35436008 TCGA-06-0939-01A-01D-1353-08 TCGA-06-0939-10A-01D-1353-08 Untested Somatic Phase_I WXS none Illumina GAIIx ca1a0aa7-2b4e-4479-966f-9de854b9dddc 6a8ffcc4-f3eb-4430-a734-8a2a46fbfd95 g.chr8:59548070G>A uc011lee.2 - 2 339 c.278C>T c.(277-279)tCg>tTg p.S93L NSMAF_uc003xtt.3_Missense_Mutation_p.S62L NM_001144772 NP_001138244 Q92636 FAN_HUMAN Homo sapiens neutral sphingomyelinase (N-SMase) activation associated factor (NSMAF), transcript variant 2, mRNA. 62 ceramide metabolic process cytoplasm|soluble fraction protein binding|receptor signaling protein activity autonomic_ganglia(1)|central_nervous_system(1)|endometrium(7)|kidney(3)|large_intestine(7)|lung(11)|ovary(1)|pancreas(1)|prostate(2)|skin(3)|urinary_tract(1) 38 all_lung(136;0.174)|Lung NSC(129;0.2) AAAAATCACCGATTTTGAACA 0.323 SLCO5A1 81796 broad.mit.edu 37 8 70744273 70744273 + Silent SNP G G A TCGA-06-0939-01A-01D-1353-08 TCGA-06-0939-10A-01D-1353-08 Untested Somatic Phase_I WXS none Illumina GAIIx ca1a0aa7-2b4e-4479-966f-9de854b9dddc 6a8ffcc4-f3eb-4430-a734-8a2a46fbfd95 g.chr8:70744273G>A uc003xyl.3 - 1 1343 c.636C>T c.(634-636)ttC>ttT p.F212F SLCO5A1_uc010lzb.3_Silent_p.F212F|SLCO5A1_uc011lfa.2_Non-coding_Transcript|SLCO5A1_uc003xyk.3_Silent_p.F212F|SLCO5A1_uc010lzc.2_Silent_p.F212F NM_030958 NP_112220 Q9H2Y9 SO5A1_HUMAN Homo sapiens solute carrier organic anion transporter family, member 5A1 (SLCO5A1), transcript variant 1, mRNA. 212 integral to membrane|plasma membrane transporter activity p.L211I(1) NS(1)|breast(2)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(11)|lung(24)|ovary(3)|prostate(2)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1) 53 Breast(64;0.0654) Epithelial(68;0.0141)|OV - Ovarian serous cystadenocarcinoma(28;0.0315)|all cancers(69;0.0594) GAGGTAAGGCGAAGAGGGCTG 0.662 ASAP1 50807 broad.mit.edu 37 8 131414154 131414154 + Silent SNP C C A TCGA-06-0939-01A-01D-1353-08 TCGA-06-0939-10A-01D-1353-08 Untested Somatic Phase_I WXS none Illumina GAIIx ca1a0aa7-2b4e-4479-966f-9de854b9dddc 6a8ffcc4-f3eb-4430-a734-8a2a46fbfd95 g.chr8:131414154C>A uc003yta.2 - 1 264 c.36G>T c.(34-36)tcG>tcT p.S12S ASAP1_uc011liw.2_5'UTR NM_018482 NP_060952 Q9ULH1 ASAP1_HUMAN Homo sapiens ArfGAP with SH3 domain, ankyrin repeat and PH domain 1 (ASAP1), transcript variant 1, mRNA. 12 cilium morphogenesis|filopodium assembly|regulation of ARF GTPase activity|signal transduction cytoplasm|membrane ARF GTPase activator activity|cytoskeletal adaptor activity|SH3 domain binding|zinc ion binding p.F11L(1) breast(5)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(13)|lung(22)|ovary(6)|pancreas(1)|prostate(1)|skin(3)|stomach(1) 68 AATCTCTCGACGAAAAACTGG 0.502 SLC45A4 57210 broad.mit.edu 37 8 142231734 142231734 + Silent SNP G G A TCGA-06-0939-01A-01D-1353-08 TCGA-06-0939-10A-01D-1353-08 Untested Somatic Phase_I WXS none Illumina GAIIx ca1a0aa7-2b4e-4479-966f-9de854b9dddc 6a8ffcc4-f3eb-4430-a734-8a2a46fbfd95 g.chr8:142231734G>A uc003ywd.1 - 1 527 c.219C>T c.(217-219)ctC>ctT p.L73L SLC45A4_uc003ywc.1_Silent_p.L73L|SLC45A4_uc010meq.1_Silent_p.L71L NM_001080431 NP_001073900 Q5BKX6 S45A4_HUMAN Homo sapiens solute carrier family 45, member 4 (SLC45A4), mRNA. 124 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) CGCAGAGGGCGAGGATGAAGG 0.612 LRRC14 9684 broad.mit.edu 37 8 145746502 145746502 + Missense_Mutation SNP G G C TCGA-06-0939-01A-01D-1353-08 TCGA-06-0939-10A-01D-1353-08 Untested Somatic Phase_I WXS none Illumina GAIIx ca1a0aa7-2b4e-4479-966f-9de854b9dddc 6a8ffcc4-f3eb-4430-a734-8a2a46fbfd95 g.chr8:145746502G>C uc003zdk.2 + 3 1296 c.1122G>C c.(1120-1122)gaG>gaC p.E374D LRRC14_uc003zdl.2_Missense_Mutation_p.E374D NM_014665 NP_055480 Q15048 LRC14_HUMAN Homo sapiens leucine rich repeat containing 14 (LRRC14), mRNA. 374 endometrium(1)|lung(3)|prostate(1) 5 all_cancers(97;5.56e-11)|all_epithelial(106;3.54e-10)|Lung NSC(106;5.7e-05)|all_lung(105;0.000174)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155) OV - Ovarian serous cystadenocarcinoma(54;1.48e-41)|Epithelial(56;1.85e-40)|all cancers(56;3.59e-35)|BRCA - Breast invasive adenocarcinoma(115;0.0483)|Colorectal(110;0.055) AGCTGACTGAGTGTCAGCTCG 0.597 GDA 9615 broad.mit.edu 37 9 74863239 74863239 + Missense_Mutation SNP C C T TCGA-06-0939-01A-01D-1353-08 TCGA-06-0939-10A-01D-1353-08 Untested Somatic Phase_I WXS none Illumina GAIIx ca1a0aa7-2b4e-4479-966f-9de854b9dddc 6a8ffcc4-f3eb-4430-a734-8a2a46fbfd95 g.chr9:74863239C>T uc004air.3 + 13 1555 c.1346C>T c.(1345-1347)cCg>cTg p.P449L GDA_uc011lse.2_Missense_Mutation_p.P375L|GDA_uc004aiq.3_Missense_Mutation_p.P449L|GDA_uc010mow.2_Non-coding_Transcript|GDA_uc011lsf.2_Missense_Mutation_p.P375L|GDA_uc004ais.3_Missense_Mutation_p.P371L NM_001242505 NP_001229434 Q9Y2T3 GUAD_HUMAN Homo sapiens guanine deaminase (GDA), transcript variant 1, mRNA. 449 nervous system development|purine base metabolic process|purine nucleotide catabolic process cytosol guanine deaminase activity|zinc ion binding p.P449Q(3) central_nervous_system(4)|endometrium(1)|kidney(1)|large_intestine(1)|lung(20)|ovary(2)|skin(2)|urinary_tract(1) 32 Myeloproliferative disorder(762;0.0122) Lung(182;0.0583) CAGGTGGTTCCGTTTTCCAGC 0.443 OR13C3 138803 broad.mit.edu 37 9 107298585 107298585 + Silent SNP C C T TCGA-06-0939-01A-01D-1353-08 TCGA-06-0939-10A-01D-1353-08 Untested Somatic Phase_I WXS none Illumina GAIIx ca1a0aa7-2b4e-4479-966f-9de854b9dddc 6a8ffcc4-f3eb-4430-a734-8a2a46fbfd95 g.chr9:107298585C>T uc004bcb.1 - 0 510 c.510G>A c.(508-510)gcG>gcA p.A170A NM_001001961 NP_001001961 Q8NGS6 O13C3_HUMAN Homo sapiens olfactory receptor, family 13, subfamily C, member 3 (OR13C3), mRNA. 170 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity endometrium(2)|large_intestine(7)|lung(7)|pancreas(1)|prostate(1)|skin(1) 19 TCAATACATACGCCACCTTGC 0.468 FIGF 2277 broad.mit.edu 37 X 15364311 15364311 + Missense_Mutation SNP G G A TCGA-06-0939-01A-01D-1353-08 TCGA-06-0939-10A-01D-1353-08 Untested Somatic Phase_I WXS none Illumina GAIIx ca1a0aa7-2b4e-4479-966f-9de854b9dddc 6a8ffcc4-f3eb-4430-a734-8a2a46fbfd95 g.chrX:15364311G>A uc004cwt.2 - 6 1476 c.1009C>T c.(1009-1011)Cgc>Tgc p.R337C FIGF_uc022bth.1_Non-coding_Transcript NM_004469 NP_004460 O43915 VEGFD_HUMAN Homo sapiens c-fos induced growth factor (vascular endothelial growth factor D) (FIGF), mRNA. 337 angiogenesis|cell differentiation|induction of positive chemotaxis|platelet activation|platelet degranulation|positive regulation of cell division|positive regulation of cell proliferation|positive regulation of mast cell chemotaxis|vascular endothelial growth factor receptor signaling pathway extracellular space|membrane|platelet alpha granule lumen chemoattractant activity|growth factor activity|platelet-derived growth factor receptor binding NS(1)|breast(2)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(5)|ovary(1)|skin(1) 17 Hepatocellular(33;0.183) TTTGGAAAGCGGCAATGCTTT 0.478 PTCHD1 139411 broad.mit.edu 37 X 23397772 23397772 + Missense_Mutation SNP T T C TCGA-06-0939-01A-01D-1353-08 TCGA-06-0939-10A-01D-1353-08 Untested Somatic Phase_I WXS none Illumina GAIIx ca1a0aa7-2b4e-4479-966f-9de854b9dddc 6a8ffcc4-f3eb-4430-a734-8a2a46fbfd95 g.chrX:23397772T>C uc004dal.4 + 1 424 c.416T>C c.(415-417)aTa>aCa p.I139T PTCHD1_uc010nfu.2_Missense_Mutation_p.I139T NM_173495 NP_775766 Q96NR3 PTHD1_HUMAN Homo sapiens patched domain containing 1 (PTCHD1), mRNA. 139 cognition|smoothened signaling pathway integral to membrane|plasma membrane hedgehog receptor activity NS(1)|breast(4)|endometrium(3)|kidney(3)|large_intestine(9)|lung(14)|ovary(4)|skin(2)|urinary_tract(2) 42 TTTGCCCATATATGTATCCTG 0.433 CYBB 1536 broad.mit.edu 37 X 37665738 37665738 + Silent SNP C C T TCGA-06-0939-01A-01D-1353-08 TCGA-06-0939-10A-01D-1353-08 Untested Somatic Phase_I WXS none Illumina GAIIx ca1a0aa7-2b4e-4479-966f-9de854b9dddc 6a8ffcc4-f3eb-4430-a734-8a2a46fbfd95 g.chrX:37665738C>T uc004ddr.2 + 10 1474 c.1413C>T c.(1411-1413)gcC>gcT p.A471A CYBB_uc011mkf.1_Silent_p.A439A|CYBB_uc011mkg.1_Silent_p.A204A NM_000397 NP_000388 P04839 CY24B_HUMAN Homo sapiens cytochrome b-245, beta polypeptide (CYBB), mRNA. 471 electron transport chain|inflammatory response|innate immune response|respiratory burst|superoxide anion generation NADPH oxidase complex electron carrier activity|flavin adenine dinucleotide binding|heme binding|protein heterodimerization activity|superoxide-generating NADPH oxidase activity|voltage-gated ion channel activity central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(20)|prostate(2)|skin(2) 32 GGAACAATGCCGGCTTCCTCA 0.527 PAGE1 8712 broad.mit.edu 37 X 49455937 49455937 + Silent SNP T T C TCGA-06-0939-01A-01D-1353-08 TCGA-06-0939-10A-01D-1353-08 Untested Somatic Phase_I WXS none Illumina GAIIx ca1a0aa7-2b4e-4479-966f-9de854b9dddc 6a8ffcc4-f3eb-4430-a734-8a2a46fbfd95 g.chrX:49455937T>C uc004dom.3 - 3 340 c.207A>G c.(205-207)ccA>ccG p.P69P NM_003785 NP_003776 O75459 GAGB1_HUMAN Homo sapiens P antigen family, member 1 (prostate associated) (PAGE1), mRNA. 69 cellular defense response endometrium(1)|large_intestine(2)|lung(2)|skin(1)|urinary_tract(1) 7 Ovarian(276;0.236) ACCCAGTCTTTGGCTGAACCA 0.438 FOXR2 139628 broad.mit.edu 37 X 55650496 55650496 + Missense_Mutation SNP G G A TCGA-06-0939-01A-01D-1353-08 TCGA-06-0939-10A-01D-1353-08 Untested Somatic Phase_I WXS none Illumina GAIIx ca1a0aa7-2b4e-4479-966f-9de854b9dddc 6a8ffcc4-f3eb-4430-a734-8a2a46fbfd95 g.chrX:55650496G>A uc004duo.3 + 0 664 c.352G>A c.(352-354)Gaa>Aaa p.E118K NM_198451 NP_940853 Q6PJQ5 FOXR2_HUMAN Homo sapiens forkhead box R2 (FOXR2), mRNA. 118 embryo development|organ development|pattern specification process|regulation of sequence-specific DNA binding transcription factor activity|tissue development transcription factor complex DNA bending activity|double-stranded DNA binding|promoter binding|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|specific RNA polymerase II transcription factor activity|specific transcriptional repressor activity|transcription activator activity|transcription factor binding biliary_tract(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(1)|liver(1)|lung(8)|prostate(1)|skin(1)|urinary_tract(1) 19 ACAAAAAGACGAAGGGTCTAA 0.527 SLC7A3 84889 broad.mit.edu 37 X 70148360 70148360 + Missense_Mutation SNP T T C TCGA-06-0939-01A-01D-1353-08 TCGA-06-0939-10A-01D-1353-08 Untested Somatic Phase_I WXS none Illumina GAIIx ca1a0aa7-2b4e-4479-966f-9de854b9dddc 6a8ffcc4-f3eb-4430-a734-8a2a46fbfd95 g.chrX:70148360T>C uc004dyn.3 - 3 827 c.653A>G c.(652-654)aAg>aGg p.K218R SLC7A3_uc004dyo.3_Missense_Mutation_p.K218R NM_032803 NP_116192 Q8WY07 CTR3_HUMAN Homo sapiens solute carrier family 7 (cationic amino acid transporter, y+ system), member 3 (SLC7A3), transcript variant 1, mRNA. 218 cellular nitrogen compound metabolic process integral to membrane|plasma membrane breast(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(7)|liver(1)|lung(9)|ovary(1)|urinary_tract(1) 31 Renal(35;0.156) L-Arginine(DB00125)|L-Lysine(DB00123)|L-Ornithine(DB00129) TTCTGTGAGCTTCCAGTTGTG 0.507 ZCCHC5 203430 broad.mit.edu 37 X 77912605 77912605 + Missense_Mutation SNP C C T TCGA-06-0939-01A-01D-1353-08 TCGA-06-0939-10A-01D-1353-08 Untested Somatic Phase_I WXS none Illumina GAIIx ca1a0aa7-2b4e-4479-966f-9de854b9dddc 6a8ffcc4-f3eb-4430-a734-8a2a46fbfd95 g.chrX:77912605C>T uc022bzi.1 - 0 1313 c.1313G>A c.(1312-1314)cGt>cAt p.R438H ZCCHC5_uc004edc.1_Missense_Mutation_p.R438H NM_152694 NP_689907 Q8N8U3 ZCHC5_HUMAN Homo sapiens zinc finger, CCHC domain containing 5 (ZCCHC5), mRNA. 438 nucleic acid binding|zinc ion binding breast(3)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(3)|large_intestine(6)|lung(18)|ovary(1)|prostate(1)|skin(1) 37 TTTGTGCCAACGGACCCATTC 0.547 RNF113A 7737 broad.mit.edu 37 X 119005259 119005259 + Silent SNP C C T TCGA-06-0939-01A-01D-1353-08 TCGA-06-0939-10A-01D-1353-08 Untested Somatic Phase_I WXS none Illumina GAIIx ca1a0aa7-2b4e-4479-966f-9de854b9dddc 6a8ffcc4-f3eb-4430-a734-8a2a46fbfd95 g.chrX:119005259C>T uc004esb.3 - 0 533 c.318G>A c.(316-318)gcG>gcA p.A106A NDUFA1_uc004esc.4_5'Flank NM_006978 NP_008909 O15541 R113A_HUMAN Homo sapiens ring finger protein 113A (RNF113A), mRNA. 106 nucleic acid binding|zinc ion binding NS(1)|breast(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|lung(6) 15 CCACGGGTTTCGCCGAACGGG 0.552 ENOX2 10495 broad.mit.edu 37 X 129759313 129759313 + Missense_Mutation SNP C C A TCGA-06-0939-01A-01D-1353-08 TCGA-06-0939-10A-01D-1353-08 Untested Somatic Phase_I WXS none Illumina GAIIx ca1a0aa7-2b4e-4479-966f-9de854b9dddc 6a8ffcc4-f3eb-4430-a734-8a2a46fbfd95 g.chrX:129759313C>A uc004evw.3 - 15 2226 c.1808G>T c.(1807-1809)gGc>gTc p.G603V ENOX2_uc004evx.3_Missense_Mutation_p.G574V|ENOX2_uc004evy.3_Missense_Mutation_p.G574V|ENOX2_uc004evv.3_Missense_Mutation_p.G428V NM_182314 NP_006366 Q16206 ENOX2_HUMAN Homo sapiens ecto-NOX disulfide-thiol exchanger 2 (ENOX2), transcript variant 2, mRNA. 603 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 GCCCTCGAAGCCACAGAATTT 0.438 SLITRK2 84631 broad.mit.edu 37 X 144904765 144904765 + Silent SNP G G A TCGA-06-0939-01A-01D-1353-08 TCGA-06-0939-10A-01D-1353-08 Untested Somatic Phase_I WXS none Illumina GAIIx ca1a0aa7-2b4e-4479-966f-9de854b9dddc 6a8ffcc4-f3eb-4430-a734-8a2a46fbfd95 g.chrX:144904765G>A uc022cfn.1 + 0 822 c.822G>A c.(820-822)agG>agA p.R274R SLITRK2_uc004fcd.3_Silent_p.R274R|SLITRK2_uc010nsp.3_Silent_p.R274R|SLITRK2_uc010nso.3_Silent_p.R274R|SLITRK2_uc011mwq.2_Silent_p.R274R|SLITRK2_uc011mwr.2_Silent_p.R274R|SLITRK2_uc011mws.2_Silent_p.R274R|SLITRK2_uc004fcg.3_Silent_p.R274R|SLITRK2_uc011mwt.2_Silent_p.R274R NM_032539 NP_115928 Q9H156 SLIK2_HUMAN Homo sapiens SLIT and NTRK-like family, member 2 (SLITRK2), transcript variant 1, mRNA. 274 integral to membrane NS(1)|breast(3)|central_nervous_system(1)|endometrium(9)|kidney(1)|large_intestine(17)|lung(40)|ovary(5)|pancreas(1)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(2) 86 Acute lymphoblastic leukemia(192;6.56e-05) CCAGTCAGAGGGGCAGCCATG 0.557 MTM1 4534 broad.mit.edu 37 X 149832009 149832009 + Missense_Mutation SNP C C T TCGA-06-0939-01A-01D-1353-08 TCGA-06-0939-10A-01D-1353-08 Untested Somatic Phase_I WXS none Illumina GAIIx ca1a0aa7-2b4e-4479-966f-9de854b9dddc 6a8ffcc4-f3eb-4430-a734-8a2a46fbfd95 g.chrX:149832009C>T uc004fef.4 + 13 1647 c.1571C>T c.(1570-1572)cCa>cTa p.P524L MTM1_uc011mxx.2_Non-coding_Transcript|MTM1_uc011mxy.2_Missense_Mutation_p.P487L|MTM1_uc011mxz.2_Missense_Mutation_p.P409L|MTM1_uc010nte.3_Missense_Mutation_p.P392L NM_000252 NP_000243 Q13496 MTM1_HUMAN Homo sapiens myotubularin 1 (MTM1), mRNA. 524 Myotubularin phosphatase. endosome to lysosome transport|intermediate filament organization|mitochondrion distribution|mitochondrion morphogenesis|phosphatidylinositol dephosphorylation|protein transport|regulation of vacuole organization filopodium|late endosome|plasma membrane|ruffle intermediate filament binding|phosphatidylinositol binding|phosphatidylinositol-3,5-bisphosphate 3-phosphatase activity|phosphatidylinositol-3-phosphatase activity|protein tyrosine phosphatase activity breast(2)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(4)|liver(1)|lung(10)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 26 Acute lymphoblastic leukemia(192;6.56e-05) GTTTTATATCCAGTTGCCAGT 0.358 HCFC1 3054 broad.mit.edu 37 X 153229664 153229664 + Silent SNP G G T TCGA-06-0939-01A-01D-1353-08 TCGA-06-0939-10A-01D-1353-08 Untested Somatic Phase_I WXS none Illumina GAIIx ca1a0aa7-2b4e-4479-966f-9de854b9dddc 6a8ffcc4-f3eb-4430-a734-8a2a46fbfd95 g.chrX:153229664G>T uc004fjp.3 - 2 942 c.414C>A c.(412-414)ctC>ctA p.L138L NM_005334 NP_005325 P51610 HCFC1_HUMAN Homo sapiens host cell factor C1 (VP16-accessory protein) (HCFC1), mRNA. 138 cell cycle|interspecies interaction between organisms|positive regulation of cell cycle|positive regulation of gene expression|protein stabilization|reactivation of latent virus|regulation of protein complex assembly|transcription from RNA polymerase II promoter mitochondrion|MLL1 complex|MLL5-L complex|Set1C/COMPASS complex chromatin binding|identical protein binding|sequence-specific DNA binding transcription factor activity|transcription coactivator activity NS(1)|breast(2)|central_nervous_system(2)|endometrium(12)|kidney(3)|large_intestine(3)|lung(18)|ovary(2)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 47 all_cancers(53;6.23e-16)|all_epithelial(53;5.61e-10)|all_lung(58;3.99e-07)|Lung NSC(58;5.02e-07)|all_hematologic(71;4.25e-06)|Acute lymphoblastic leukemia(192;6.56e-05) AGCTGTGCCCGAGTCGAGGAC 0.562