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 CLCN6 1185 broad.mit.edu 37 1 11897139 11897139 + Silent SNP C C T TCGA-19-5955-01A-11D-1696-08 TCGA-19-5955-11A-01D-1696-08 Untested Somatic Phase_I WXS none Illumina GAIIx c8abde95-f4d7-4d48-879b-bd584eaf8a25 cef2a217-c85e-4fb2-a319-d7a9a02417d4 g.chr1:11897139C>T uc001ate.4 + 18 2177 c.2064C>T c.(2062-2064)aaC>aaT p.N688N CLCN6_uc010oat.2_Silent_p.N404N|CLCN6_uc010oau.2_Silent_p.N666N NM_001286 NP_001277 P51797 CLCN6_HUMAN Homo sapiens chloride channel 6 (CLCN6), transcript variant ClC-6a, mRNA. 688 cell volume homeostasis|signal transduction endosome membrane|integral to membrane antiporter activity|ATP binding|voltage-gated chloride channel activity cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(7)|lung(12)|prostate(2)|skin(4) 36 Ovarian(185;0.249) Lung NSC(185;8.69e-05)|all_lung(284;9.87e-05)|Renal(390;0.000147)|Breast(348;0.00093)|Colorectal(325;0.00205)|Ovarian(437;0.00965)|Hepatocellular(190;0.0202)|Myeloproliferative disorder(586;0.0255) UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;6.13e-06)|COAD - Colon adenocarcinoma(227;0.000274)|BRCA - Breast invasive adenocarcinoma(304;0.000311)|Kidney(185;0.000816)|KIRC - Kidney renal clear cell carcinoma(229;0.00268)|STAD - Stomach adenocarcinoma(313;0.00743)|READ - Rectum adenocarcinoma(331;0.0649) AGCTACGGAACATGTGTGATG 0.632 PADI3 51702 broad.mit.edu 37 1 17609431 17609431 + Missense_Mutation SNP C C T rs144763474 byFrequency TCGA-19-5955-01A-11D-1696-08 TCGA-19-5955-11A-01D-1696-08 Untested Somatic Phase_I WXS none Illumina GAIIx c8abde95-f4d7-4d48-879b-bd584eaf8a25 cef2a217-c85e-4fb2-a319-d7a9a02417d4 g.chr1:17609431C>T uc001bai.3 + 15 1892 c.1852C>T c.(1852-1854)Cgg>Tgg p.R618W NM_016233 NP_057317 Q9ULW8 PADI3_HUMAN Homo sapiens peptidyl arginine deiminase, type III (PADI3), mRNA. 618 R -> Q (in dbSNP:rs35624745). peptidyl-citrulline biosynthetic process from peptidyl-arginine cytoplasm calcium ion binding|protein-arginine deiminase activity breast(1)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(4)|liver(2)|lung(10)|ovary(2)|prostate(1)|skin(1)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 32 Colorectal(325;3.46e-05)|Breast(348;0.000162)|all_lung(284;0.000337)|Lung NSC(340;0.000419)|Renal(390;0.000518)|Ovarian(437;0.00409)|Myeloproliferative disorder(586;0.0255) UCEC - Uterine corpus endometrioid carcinoma (279;0.00488)|BRCA - Breast invasive adenocarcinoma(304;1.17e-05)|COAD - Colon adenocarcinoma(227;1.18e-05)|Kidney(64;0.000186)|KIRC - Kidney renal clear cell carcinoma(64;0.00272)|STAD - Stomach adenocarcinoma(196;0.00656)|READ - Rectum adenocarcinoma(331;0.0655)|Lung(427;0.189) L-Citrulline(DB00155) GGAGAAGGTGCGGTCCCTGCT 0.602 CNR2 1269 broad.mit.edu 37 1 24202118 24202118 + Translation_Start_Site SNP C C A TCGA-19-5955-01A-11D-1696-08 TCGA-19-5955-11A-01D-1696-08 Untested Somatic Phase_I WXS none Illumina GAIIx c8abde95-f4d7-4d48-879b-bd584eaf8a25 cef2a217-c85e-4fb2-a319-d7a9a02417d4 g.chr1:24202118C>A uc021oij.1 - CNR2_uc001bif.3_5'UTR NM_001841 NP_001832 P34972 CNR2_HUMAN Homo sapiens cannabinoid receptor 2 (macrophage) (CNR2), mRNA. behavior|G-protein signaling, coupled to cyclic nucleotide second messenger|immune response|inflammatory response dendrite|integral to plasma membrane|perikaryon cannabinoid receptor activity breast(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|lung(9)|pancreas(1)|skin(2)|stomach(6)|upper_aerodigestive_tract(2) 26 Colorectal(325;3.46e-05)|Renal(390;0.000219)|Lung NSC(340;0.000233)|all_lung(284;0.000321)|Ovarian(437;0.00348)|Breast(348;0.00957)|Myeloproliferative disorder(586;0.0255) UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|OV - Ovarian serous cystadenocarcinoma(117;1.32e-24)|Colorectal(126;6.09e-08)|COAD - Colon adenocarcinoma(152;3.33e-06)|GBM - Glioblastoma multiforme(114;2.9e-05)|BRCA - Breast invasive adenocarcinoma(304;0.00101)|KIRC - Kidney renal clear cell carcinoma(1967;0.00359)|STAD - Stomach adenocarcinoma(196;0.0131)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.146) Nabilone(DB00486) GGGGTGGGCCCTTCAGATTCC 0.458 TMEM57 55219 broad.mit.edu 37 1 25784890 25784890 + Missense_Mutation SNP G G A TCGA-19-5955-01A-11D-1696-08 TCGA-19-5955-11A-01D-1696-08 Untested Somatic Phase_I WXS none Illumina GAIIx c8abde95-f4d7-4d48-879b-bd584eaf8a25 cef2a217-c85e-4fb2-a319-d7a9a02417d4 g.chr1:25784890G>A uc001bkk.3 + 5 863 c.661G>A c.(661-663)Gga>Aga p.G221R TMEM57_uc009vru.3_Intron|TMEM57_uc009vrv.3_Intron|TMEM57_uc009vrt.2_Non-coding_Transcript NM_018202 NP_060672 Q8N5G2 MACOI_HUMAN Homo sapiens transmembrane protein 57 (TMEM57), mRNA. 221 axon|integral to membrane|neuron projection terminus|nuclear membrane|synapse part breast(3)|endometrium(2)|kidney(2)|large_intestine(8)|lung(9)|ovary(1)|skin(1)|upper_aerodigestive_tract(1) 27 Colorectal(325;0.000147)|Renal(390;0.00211)|Lung NSC(340;0.00715)|all_lung(284;0.00989)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.051)|Breast(348;0.0675)|all_neural(195;0.201) UCEC - Uterine corpus endometrioid carcinoma (279;0.042)|OV - Ovarian serous cystadenocarcinoma(117;1.85e-26)|Colorectal(126;2.99e-08)|COAD - Colon adenocarcinoma(152;1.7e-06)|KIRC - Kidney renal clear cell carcinoma(1967;0.000751)|STAD - Stomach adenocarcinoma(196;0.000766)|BRCA - Breast invasive adenocarcinoma(304;0.000986)|GBM - Glioblastoma multiforme(114;0.0191)|READ - Rectum adenocarcinoma(331;0.0649) AGCAGCCAAAGGATTACCTGA 0.378 SRSF11 9295 broad.mit.edu 37 1 70716405 70716405 + Nonsense_Mutation SNP G G T TCGA-19-5955-01A-11D-1696-08 TCGA-19-5955-11A-01D-1696-08 Untested Somatic Phase_I WXS none Illumina GAIIx c8abde95-f4d7-4d48-879b-bd584eaf8a25 cef2a217-c85e-4fb2-a319-d7a9a02417d4 g.chr1:70716405G>T uc001des.3 + 12 1496 c.1372G>T c.(1372-1374)Gaa>Taa p.E458* SRSF11_uc001det.3_Nonsense_Mutation_p.E457*|SRSF11_uc001dev.3_Nonsense_Mutation_p.E268*|SRSF11_uc001dew.3_Nonsense_Mutation_p.E398* NM_004768 NP_004759 Q05519 SRS11_HUMAN Homo sapiens serine/arginine-rich splicing factor 11 (SRSF11), transcript variant 1, mRNA. 458 mRNA 3'-end processing|mRNA export from nucleus|nuclear mRNA splicing, via spliceosome|termination of RNA polymerase II transcription nucleoplasm nucleotide binding|protein binding|RNA binding large_intestine(3)|ovary(2)|skin(1) 6 ATGTTCTGTGGAAAAGGGAAC 0.398 C1orf173 127254 broad.mit.edu 37 1 75037396 75037396 + Missense_Mutation SNP C C T TCGA-19-5955-01A-11D-1696-08 TCGA-19-5955-11A-01D-1696-08 Untested Somatic Phase_I WXS none Illumina GAIIx c8abde95-f4d7-4d48-879b-bd584eaf8a25 cef2a217-c85e-4fb2-a319-d7a9a02417d4 g.chr1:75037396C>T uc001dgg.3 - 13 4217 c.3998G>A c.(3997-3999)gGa>gAa p.G1333E NM_001002912 NP_001002912 Q5RHP9 CA173_HUMAN Homo sapiens chromosome 1 open reading frame 173 (C1orf173), mRNA. 1333 Glu-rich. NS(1)|breast(1)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(23)|lung(123)|ovary(3)|prostate(10)|skin(10)|stomach(1)|upper_aerodigestive_tract(5) 184 CCTTCCTCCTCCCATGCCCTC 0.562 FNDC7 163479 broad.mit.edu 37 1 109270578 109270578 + Silent SNP G G A rs151239518 by1000genomes TCGA-19-5955-01A-11D-1696-08 TCGA-19-5955-11A-01D-1696-08 Untested Somatic Phase_I WXS none Illumina GAIIx c8abde95-f4d7-4d48-879b-bd584eaf8a25 cef2a217-c85e-4fb2-a319-d7a9a02417d4 g.chr1:109270578G>A uc001dvx.3 + 6 1260 c.1260G>A c.(1258-1260)gcG>gcA p.A420A FNDC7_uc010ova.2_Silent_p.A187A NM_001144937 NP_001138409 Q5VTL7 FNDC7_HUMAN Homo sapiens fibronectin type III domain containing 7 (FNDC7), mRNA. 421 Fibronectin type-III 5. extracellular region breast(1)|endometrium(1)|kidney(3)|large_intestine(2)|lung(6)|ovary(1)|skin(4)|stomach(1)|urinary_tract(1) 20 all_lung(203;0.00439)|Lung NSC(277;0.00683)|all_epithelial(167;0.00728) Colorectal(144;0.0314)|Lung(183;0.0924)|COAD - Colon adenocarcinoma(174;0.119)|Epithelial(280;0.173)|all cancers(265;0.244) CTACTCCTGCGTGCACCCTTT 0.483 FLG 2312 broad.mit.edu 37 1 152276186 152276186 + Missense_Mutation SNP G G A rs145171931 byFrequency TCGA-19-5955-01A-11D-1696-08 TCGA-19-5955-11A-01D-1696-08 Untested Somatic Phase_I WXS none Illumina GAIIx c8abde95-f4d7-4d48-879b-bd584eaf8a25 cef2a217-c85e-4fb2-a319-d7a9a02417d4 g.chr1:152276186G>A uc001ezu.1 - 2 11212 c.11176C>T c.(11176-11178)Cgg>Tgg p.R3726W NM_002016 NP_002007 P20930 FILA_HUMAN Homo sapiens filaggrin (FLG), mRNA. 3726 Ser-rich. keratinocyte differentiation cytoplasmic membrane-bounded vesicle|intermediate filament calcium ion binding|structural molecule activity autonomic_ganglia(1)|breast(13)|central_nervous_system(5)|cervix(2)|endometrium(38)|haematopoietic_and_lymphoid_tissue(1)|kidney(16)|large_intestine(57)|lung(211)|ovary(13)|pancreas(1)|prostate(15)|skin(24)|stomach(5)|upper_aerodigestive_tract(10)|urinary_tract(12) 424 Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127) LUSC - Lung squamous cell carcinoma(543;0.206) GGCCCAGCCCGTCCATGGGCA 0.607 Ichthyosis NUF2 83540 broad.mit.edu 37 1 163306614 163306614 + Silent SNP G G A rs148215962 TCGA-19-5955-01A-11D-1696-08 TCGA-19-5955-11A-01D-1696-08 Untested Somatic Phase_I WXS none Illumina GAIIx c8abde95-f4d7-4d48-879b-bd584eaf8a25 cef2a217-c85e-4fb2-a319-d7a9a02417d4 g.chr1:163306614G>A uc001gcq.1 + 5 711 c.411G>A c.(409-411)acG>acA p.T137T NUF2_uc001gcr.1_Silent_p.T137T NM_145697 NP_663735 Q9BZD4 NUF2_HUMAN Homo sapiens NUF2, NDC80 kinetochore complex component, homolog (S. cerevisiae) (NUF2), transcript variant 1, mRNA. 137 Interaction with the N-terminus of NDC80. cell division|chromosome segregation|mitotic prometaphase condensed chromosome kinetochore|cytosol|Ndc80 complex|nucleus protein binding breast(1)|endometrium(2)|kidney(1)|large_intestine(10)|lung(15)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1) 35 all_hematologic(923;0.101) GCCGTGAAACGTATATGGAAT 0.313 PAPPA2 60676 broad.mit.edu 37 1 176734853 176734853 + Silent SNP T T C TCGA-19-5955-01A-11D-1696-08 TCGA-19-5955-11A-01D-1696-08 Untested Somatic Phase_I WXS none Illumina GAIIx c8abde95-f4d7-4d48-879b-bd584eaf8a25 cef2a217-c85e-4fb2-a319-d7a9a02417d4 g.chr1:176734853T>C uc001gkz.3 + 14 5367 c.4203T>C c.(4201-4203)ctT>ctC p.L1401L PAPPA2_uc009www.3_Non-coding_Transcript NM_020318 NP_064714 Q9BXP8 PAPP2_HUMAN Homo sapiens pappalysin 2 (PAPPA2), transcript variant 1, mRNA. 1401 Sushi 1. 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 CATTGCTGCTTGATCATGCTG 0.507 SLC45A3 85414 broad.mit.edu 37 1 205632180 205632180 + Missense_Mutation SNP G G A TCGA-19-5955-01A-11D-1696-08 TCGA-19-5955-11A-01D-1696-08 Untested Somatic Phase_I WXS none Illumina GAIIx c8abde95-f4d7-4d48-879b-bd584eaf8a25 cef2a217-c85e-4fb2-a319-d7a9a02417d4 g.chr1:205632180G>A uc001hda.1 - 2 1078 c.739C>T c.(739-741)Cgc>Tgc p.R247C SLC45A3_uc010prn.1_5'Flank|SLC45A3_uc010pro.1_Missense_Mutation_p.R81C|SLC45A3_uc010prp.1_Intron|SLC45A3_uc010prq.1_Intron NM_033102 NP_149093 Q96JT2 S45A3_HUMAN Homo sapiens solute carrier family 45, member 3 (SLC45A3), mRNA. 247 transmembrane transport integral to membrane SLC45A3/BRAF(2)|SLC45A3/ELK4(18)|SLC45A3/ETV1(3)|SLC45A3/ETV5_ENST00000306376(2)|SLC45A3/ERG(50) cervix(1)|endometrium(1)|kidney(1)|large_intestine(2)|liver(1)|lung(7)|ovary(3)|prostate(5) 21 Breast(84;0.07) BRCA - Breast invasive adenocarcinoma(75;0.0194) AAAGCCAAGCGGGCCCGGCAT 0.716 T """ETV1, ETV5, ELK4, ERG""" prostate LEFTY2 7044 broad.mit.edu 37 1 226125177 226125177 + Silent SNP C C T TCGA-19-5955-01A-11D-1696-08 TCGA-19-5955-11A-01D-1696-08 Untested Somatic Phase_I WXS none Illumina GAIIx c8abde95-f4d7-4d48-879b-bd584eaf8a25 cef2a217-c85e-4fb2-a319-d7a9a02417d4 g.chr1:226125177C>T uc001hpt.2 - 3 1308 c.1065G>A c.(1063-1065)tcG>tcA p.S355S LEFTY2_uc010pvk.2_Silent_p.S321S|LEFTY2_uc009xek.2_3'UTR NM_003240 NP_003231 O00292 LFTY2_HUMAN Homo sapiens left-right determination factor 2 (LEFTY2), transcript variant 1, mRNA. 355 cell growth|multicellular organismal development|platelet activation|platelet degranulation|transforming growth factor beta receptor signaling pathway extracellular space|platelet alpha granule lumen cytokine activity|growth factor activity|transforming growth factor beta receptor binding endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(8)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1) 16 Breast(184;0.197) GCGCCCCATCCGAGGCACAGC 0.602 OR2M1P 388762 broad.mit.edu 37 1 248285934 248285934 + Missense_Mutation SNP G G A TCGA-19-5955-01A-11D-1696-08 TCGA-19-5955-11A-01D-1696-08 Untested Somatic Phase_I WXS none Illumina GAIIx c8abde95-f4d7-4d48-879b-bd584eaf8a25 cef2a217-c85e-4fb2-a319-d7a9a02417d4 g.chr1:248285934G>A uc001idy.1 + 0 497 c.497G>A c.(496-498)cGt>cAt p.R166H Homo sapiens olfactory receptor, family 2, subfamily M, member 1 pseudogene (OR2M1P), non-coding RNA. GGAGAGGGTCGTCGCAAAGCT 0.468 OR2M2 391194 broad.mit.edu 37 1 248343988 248343988 + Missense_Mutation SNP G G A TCGA-19-5955-01A-11D-1696-08 TCGA-19-5955-11A-01D-1696-08 Untested Somatic Phase_I WXS none Illumina GAIIx c8abde95-f4d7-4d48-879b-bd584eaf8a25 cef2a217-c85e-4fb2-a319-d7a9a02417d4 g.chr1:248343988G>A uc010pzf.2 + 0 701 c.701G>A c.(700-702)cGt>cAt p.R234H NM_001004688 NP_001004688 Q96R28 OR2M2_HUMAN Homo sapiens olfactory receptor, family 2, subfamily M, member 2 (OR2M2), mRNA. 234 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity p.R234H(4) NS(1)|autonomic_ganglia(1)|breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(7)|lung(45)|ovary(3)|prostate(1)|skin(3) 70 all_cancers(71;0.000149)|all_epithelial(71;1.27e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136) OV - Ovarian serous cystadenocarcinoma(106;0.0245) GGAGAGGGTCGTTGCAAAGCT 0.468 OR2T27 403239 broad.mit.edu 37 1 248813409 248813409 + Silent SNP G G A TCGA-19-5955-01A-11D-1696-08 TCGA-19-5955-11A-01D-1696-08 Untested Somatic Phase_I WXS none Illumina GAIIx c8abde95-f4d7-4d48-879b-bd584eaf8a25 cef2a217-c85e-4fb2-a319-d7a9a02417d4 g.chr1:248813409G>A uc010pzo.2 - 0 777 c.777C>T c.(775-777)taC>taT p.Y259Y NM_001001824 NP_001001824 Q8NH04 O2T27_HUMAN Homo sapiens olfactory receptor, family 2, subfamily T, member 27 (OR2T27), mRNA. 259 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity breast(2)|endometrium(2)|large_intestine(4)|lung(20)|skin(3)|stomach(1) 32 all_cancers(71;1.15e-05)|all_epithelial(71;5.29e-06)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.089)|Lung NSC(105;0.0969)|Melanoma(84;0.199) all_cancers(173;0.237) OV - Ovarian serous cystadenocarcinoma(106;0.0265) GAGGCAGCACGTATGTGTACA 0.532 MYO3A 53904 broad.mit.edu 37 10 26315330 26315330 + Frame_Shift_Del DEL G G - TCGA-19-5955-01A-11D-1696-08 TCGA-19-5955-11A-01D-1696-08 Untested Somatic Phase_I WXS none Illumina GAIIx c8abde95-f4d7-4d48-879b-bd584eaf8a25 cef2a217-c85e-4fb2-a319-d7a9a02417d4 g.chr10:26315330delG uc001isn.2 + 9 1182 c.822delG c.(820-822)aagfs p.K274fs MYO3A_uc009xko.1_Frame_Shift_Del_p.K274fs|MYO3A_uc009xkp.1_Non-coding_Transcript|MYO3A_uc009xkq.1_Frame_Shift_Del_p.K274fs NM_017433 NP_059129 Q8NEV4 MYO3A_HUMAN Homo sapiens myosin IIIA (MYO3A), mRNA. 274 Protein kinase. protein autophosphorylation|response to stimulus|sensory perception of sound|visual perception cytoplasm|filamentous actin|filopodium|myosin complex actin binding|actin-dependent ATPase activity|ADP binding|ATP binding|calmodulin binding|plus-end directed microfilament motor activity|protein serine/threonine kinase activity NS(2)|breast(9)|central_nervous_system(3)|endometrium(9)|kidney(10)|large_intestine(28)|liver(1)|lung(46)|ovary(11)|pancreas(1)|prostate(6)|skin(11)|stomach(6)|upper_aerodigestive_tract(1)|urinary_tract(2) 146 ATTATGAAAAGCGTCCAACAG 0.328 PTEN 5728 broad.mit.edu 37 10 89725130 89725130 + Frame_Shift_Del DEL C C - TCGA-19-5955-01A-11D-1696-08 TCGA-19-5955-11A-01D-1696-08 Untested Somatic Phase_I WXS none Illumina GAIIx c8abde95-f4d7-4d48-879b-bd584eaf8a25 cef2a217-c85e-4fb2-a319-d7a9a02417d4 g.chr10:89725130delC uc001kfb.3 + 8 2145 c.1113delC c.(1111-1113)gacfs p.D371fs PTEN_uc021pvw.1_Non-coding_Transcript NM_000314 NP_000305 P60484 PTEN_HUMAN Homo sapiens phosphatase and tensin homolog (PTEN), mRNA. 371 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.0?(37)|p.R55fs*1(5)|p.N212fs*1(2)|p.Y27fs*1(2)|p.G165_*404del(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) ATGTTAGTGACAATGAACCTG 0.388 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) HTR7 3363 broad.mit.edu 37 10 92508680 92508680 + Missense_Mutation SNP C C T TCGA-19-5955-01A-11D-1696-08 TCGA-19-5955-11A-01D-1696-08 Untested Somatic Phase_I WXS none Illumina GAIIx c8abde95-f4d7-4d48-879b-bd584eaf8a25 cef2a217-c85e-4fb2-a319-d7a9a02417d4 g.chr10:92508680C>T uc001kha.3 - 1 1454 c.1211G>A c.(1210-1212)cGg>cAg p.R404Q HTR7_uc001kgz.3_Missense_Mutation_p.R404Q|HTR7_uc001khb.3_Missense_Mutation_p.R404Q NM_019859 NP_062873 P34969 5HT7R_HUMAN Homo sapiens 5-hydroxytryptamine (serotonin) receptor 7 (adenylate cyclase-coupled) (HTR7), transcript variant d, mRNA. 404 blood circulation|circadian rhythm integral to plasma membrane protein binding|serotonin receptor activity p.R404R(1) NS(1)|endometrium(3)|kidney(2)|large_intestine(9)|lung(11)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 30 Eletriptan(DB00216)|Methysergide(DB00247)|Ziprasidone(DB00246) GTTGATATTCCGGTACTGGCA 0.507 OR4D10 390197 broad.mit.edu 37 11 59245250 59245250 + Silent SNP G G A TCGA-19-5955-01A-11D-1696-08 TCGA-19-5955-11A-01D-1696-08 Untested Somatic Phase_I WXS none Illumina GAIIx c8abde95-f4d7-4d48-879b-bd584eaf8a25 cef2a217-c85e-4fb2-a319-d7a9a02417d4 g.chr11:59245250G>A uc001nnz.1 + 0 348 c.348G>A c.(346-348)tcG>tcA p.S116S NM_001004705 NP_001004705 Q8NGI6 OR4DA_HUMAN Homo sapiens olfactory receptor, family 4, subfamily D, member 10 (OR4D10), mRNA. 116 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity NS(1)|breast(2)|endometrium(2)|kidney(2)|large_intestine(4)|lung(12)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 30 TTTCTCTTTCGGTGATGGCAT 0.473 ATM 472 broad.mit.edu 37 11 108199882 108199882 + Frame_Shift_Del DEL G G - rs145747513 byFrequency TCGA-19-5955-01A-11D-1696-08 TCGA-19-5955-11A-01D-1696-08 Untested Somatic Phase_I WXS none Illumina GAIIx c8abde95-f4d7-4d48-879b-bd584eaf8a25 cef2a217-c85e-4fb2-a319-d7a9a02417d4 g.chr11:108199882delG uc001pkb.1 + 48 7609 c.7224delG c.(7222-7224)tcgfs p.S2408fs ATM_uc009yxr.1_Frame_Shift_Del_p.S2408fs|C11orf65_uc010rvx.1_Intron|ATM_uc001pke.2_Frame_Shift_Del_p.S1060fs|ATM_uc001pkg.1_Frame_Shift_Del_p.S765fs NM_000051 NP_000042 Q13315 ATM_HUMAN Homo sapiens ataxia telangiectasia mutated (ATM), mRNA. 2408 FAT. S -> L (in a colorectal adenocarcinoma sample; somatic mutation). cell cycle arrest|cellular response to gamma radiation|DNA damage induced protein phosphorylation|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|double-strand break repair via homologous recombination|G2/M transition DNA damage checkpoint|histone mRNA catabolic process|mitotic cell cycle spindle assembly checkpoint|negative regulation of B cell proliferation|peptidyl-serine phosphorylation|positive regulation of DNA damage response, signal transduction by p53 class mediator|pre-B cell allelic exclusion|protein autophosphorylation|reciprocal meiotic recombination|replicative senescence cytoplasmic membrane-bounded vesicle|nucleoplasm 1-phosphatidylinositol-3-kinase activity|ATP binding|DNA binding|DNA-dependent protein kinase activity|identical protein binding|protein complex binding|protein dimerization activity|protein N-terminus binding p.S2408L(1) NS(4)|breast(23)|central_nervous_system(11)|endometrium(10)|haematopoietic_and_lymphoid_tissue(227)|kidney(19)|large_intestine(53)|liver(5)|lung(62)|ovary(6)|pancreas(4)|prostate(13)|skin(4)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(3) 448 all_cancers(61;9.64e-12)|all_epithelial(67;9.97e-08)|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;9.05e-06)|BRCA - Breast invasive adenocarcinoma(274;1.06e-05)|all cancers(92;0.000208)|Colorectal(284;0.116)|OV - Ovarian serous cystadenocarcinoma(223;0.147) TGAAATCATCGGAATTTGAAA 0.373 """D, Mis, N, F, S""" T-PLL """leukemia, lymphoma, medulloblastoma, glioma""" Genes defective in diseases associated with sensitivity to DNA damaging agents Ataxia Telangiectasia TSP Lung(14;0.12) LOC642846 642846 broad.mit.edu 37 12 9447432 9447432 + Missense_Mutation SNP C C G TCGA-19-5955-01A-11D-1696-08 TCGA-19-5955-11A-01D-1696-08 Untested Somatic Phase_I WXS none Illumina GAIIx c8abde95-f4d7-4d48-879b-bd584eaf8a25 cef2a217-c85e-4fb2-a319-d7a9a02417d4 g.chr12:9447432C>G uc010sgq.1 + 4 513 c.422C>G c.(421-423)aCa>aGa p.T141R LOC642846_uc010sgp.1_Non-coding_Transcript|LOC642846_uc009zgn.1_5'UTR|LOC642846_uc001qvo.2_5'UTR Homo sapiens DEAD/H (Asp-Glu-Ala-Asp/His) box polypeptide 11-like (LOC642846), non-coding RNA. p.T167R(1) GAAGAAGAAACAGAGAATCTC 0.632 ST8SIA1 6489 broad.mit.edu 37 12 22354787 22354787 + Missense_Mutation SNP C C T TCGA-19-5955-01A-11D-1696-08 TCGA-19-5955-11A-01D-1696-08 Untested Somatic Phase_I WXS none Illumina GAIIx c8abde95-f4d7-4d48-879b-bd584eaf8a25 cef2a217-c85e-4fb2-a319-d7a9a02417d4 g.chr12:22354787C>T uc001rfo.4 - 4 1252 c.770G>A c.(769-771)cGt>cAt p.R257H ST8SIA1_uc009zix.3_Missense_Mutation_p.R114H NM_003034 NP_003025 Q92185 SIA8A_HUMAN Homo sapiens ST8 alpha-N-acetyl-neuraminide alpha-2,8-sialyltransferase 1 (ST8SIA1), mRNA. 257 glycosphingolipid biosynthetic process|protein glycosylation integral to Golgi membrane alpha-N-acetylneuraminate alpha-2,8-sialyltransferase activity p.R257C(1) breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(10)|ovary(3)|skin(1)|upper_aerodigestive_tract(1) 25 TCCAATGCTACGCAGAAAGTT 0.478 SRGAP1 57522 broad.mit.edu 37 12 64502748 64502748 + Missense_Mutation SNP G G A TCGA-19-5955-01A-11D-1696-08 TCGA-19-5955-11A-01D-1696-08 Untested Somatic Phase_I WXS none Illumina GAIIx c8abde95-f4d7-4d48-879b-bd584eaf8a25 cef2a217-c85e-4fb2-a319-d7a9a02417d4 g.chr12:64502748G>A uc010ssp.1 + 15 1906 c.1850G>A c.(1849-1851)cGc>cAc p.R617H SRGAP1_uc001srv.2_Missense_Mutation_p.R554H NM_020762 NP_065813 Q7Z6B7 SRGP1_HUMAN Homo sapiens SLIT-ROBO Rho GTPase activating protein 1 (SRGAP1), mRNA. 617 Rho-GAP. axon guidance cytosol breast(4)|central_nervous_system(3)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(11)|lung(26)|ovary(2)|prostate(3)|skin(2)|upper_aerodigestive_tract(1) 65 GBM - Glioblastoma multiforme(3;0.000139)|BRCA - Breast invasive adenocarcinoma(9;0.225) GBM - Glioblastoma multiforme(28;0.0608) CTTCACATCCGCAAACTCCTC 0.463 GRIP1 23426 broad.mit.edu 37 12 66765507 66765507 + Silent SNP C C T TCGA-19-5955-01A-11D-1696-08 TCGA-19-5955-11A-01D-1696-08 Untested Somatic Phase_I WXS none Illumina GAIIx c8abde95-f4d7-4d48-879b-bd584eaf8a25 cef2a217-c85e-4fb2-a319-d7a9a02417d4 g.chr12:66765507C>T uc001stk.3 - 21 3064 c.2823G>A c.(2821-2823)gaG>gaA p.E941E GRIP1_uc010sta.1_Silent_p.E885E|GRIP1_uc001stj.3_Silent_p.E708E|GRIP1_uc001stm.3_Silent_p.E926E|GRIP1_uc001stl.1_Silent_p.E818E NM_021150 NP_066973 Q9Y3R0 GRIP1_HUMAN Homo sapiens glutamate receptor interacting protein 1 (GRIP1), transcript variant 1, mRNA. 993 androgen receptor signaling pathway|intracellular signal transduction|positive regulation of transcription, DNA-dependent|synaptic transmission cell junction|cytoplasmic membrane-bounded vesicle|cytosol|endoplasmic reticulum|postsynaptic membrane androgen receptor binding|beta-catenin binding|protein C-terminus binding|receptor signaling complex scaffold activity|transcription coactivator activity NS(3)|breast(2)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(10)|lung(19)|ovary(2)|prostate(2)|skin(1) 50 GBM - Glioblastoma multiforme(2;0.00069) GBM - Glioblastoma multiforme(28;0.0933) GAGACATGATCTCCTTTATTT 0.493 C12orf43 64897 broad.mit.edu 37 12 121444130 121444130 + Missense_Mutation SNP C C T TCGA-19-5955-01A-11D-1696-08 TCGA-19-5955-11A-01D-1696-08 Untested Somatic Phase_I WXS none Illumina GAIIx c8abde95-f4d7-4d48-879b-bd584eaf8a25 cef2a217-c85e-4fb2-a319-d7a9a02417d4 g.chr12:121444130C>T uc009zxa.1 - 3 471 c.448G>A c.(448-450)Gat>Aat p.D150N C12orf43_uc001tzh.1_Missense_Mutation_p.D119N|C12orf43_uc010szo.1_Missense_Mutation_p.D77N|C12orf43_uc010szp.1_Missense_Mutation_p.D119N|C12orf43_uc001tzi.1_Missense_Mutation_p.D119N NM_022895 NP_075046 Q96C57 CL043_HUMAN Homo sapiens chromosome 12 open reading frame 43 (C12orf43), mRNA. 119 Poly-Ser. cervix(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(10) 14 all_neural(191;0.0684)|Medulloblastoma(191;0.0922) TCACCATCATCCTCCAAAGCG 0.403 RNF17 56163 broad.mit.edu 37 13 25419167 25419167 + Missense_Mutation SNP T T A TCGA-19-5955-01A-11D-1696-08 TCGA-19-5955-11A-01D-1696-08 Untested Somatic Phase_I WXS none Illumina GAIIx c8abde95-f4d7-4d48-879b-bd584eaf8a25 cef2a217-c85e-4fb2-a319-d7a9a02417d4 g.chr13:25419167T>A uc001upr.3 + 21 3092 c.3051T>A c.(3049-3051)aaT>aaA p.N1017K RNF17_uc010tdd.1_Missense_Mutation_p.N876K|RNF17_uc010tde.2_Missense_Mutation_p.N1017K|RNF17_uc010aab.3_Non-coding_Transcript|RNF17_uc001ups.3_Missense_Mutation_p.N956K|RNF17_uc010aac.3_Missense_Mutation_p.N215K|RNF17_uc010aad.3_Missense_Mutation_p.N69K NM_031277 NP_112567 Q9BXT8 RNF17_HUMAN Homo sapiens ring finger protein 17 (RNF17), transcript variant 1, mRNA. 1017 Tudor 2. multicellular organismal development cytoplasm|nucleus hydrolase activity, acting on ester bonds|nucleic acid binding|zinc ion binding NS(1)|breast(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(15)|ovary(1)|prostate(3)|skin(6) 36 Lung SC(185;0.0225)|Breast(139;0.077) all cancers(112;0.0114)|OV - Ovarian serous cystadenocarcinoma(117;0.0311)|Epithelial(112;0.0524) TTGAAGAAAATCTAAAGACAA 0.308 TEP1 7011 broad.mit.edu 37 14 20873722 20873722 + Missense_Mutation SNP C C G TCGA-19-5955-01A-11D-1696-08 TCGA-19-5955-11A-01D-1696-08 Untested Somatic Phase_I WXS none Illumina GAIIx c8abde95-f4d7-4d48-879b-bd584eaf8a25 cef2a217-c85e-4fb2-a319-d7a9a02417d4 g.chr14:20873722C>G uc001vxe.3 - 3 798 c.758G>C c.(757-759)tGc>tCc p.C253S TEP1_uc010tlf.1_Non-coding_Transcript|TEP1_uc010tlg.1_Missense_Mutation_p.C253S NM_007110 NP_009041 Q99973 TEP1_HUMAN Homo sapiens telomerase-associated protein 1 (TEP1), mRNA. 253 TROVE. telomere maintenance via recombination chromosome, telomeric region|cytoplasm|nuclear matrix|soluble fraction|telomerase holoenzyme complex ATP binding|RNA binding NS(4)|breast(1)|central_nervous_system(4)|endometrium(10)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(9)|lung(48)|ovary(7)|pancreas(1)|prostate(2)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1) 96 all_cancers(95;0.00123) all_lung(585;0.235) Epithelial(56;7.42e-08)|all cancers(55;6.46e-07) GBM - Glioblastoma multiforme(265;0.028)|READ - Rectum adenocarcinoma(17;0.233) CAGAGTAGAGCACAGCAAGCT 0.468 TEP1 7011 broad.mit.edu 37 14 20873724 20873724 + Silent SNP C C G TCGA-19-5955-01A-11D-1696-08 TCGA-19-5955-11A-01D-1696-08 Untested Somatic Phase_I WXS none Illumina GAIIx c8abde95-f4d7-4d48-879b-bd584eaf8a25 cef2a217-c85e-4fb2-a319-d7a9a02417d4 g.chr14:20873724C>G uc001vxe.3 - 3 796 c.756G>C c.(754-756)ctG>ctC p.L252L TEP1_uc010tlf.1_Non-coding_Transcript|TEP1_uc010tlg.1_Silent_p.L252L NM_007110 NP_009041 Q99973 TEP1_HUMAN Homo sapiens telomerase-associated protein 1 (TEP1), mRNA. 252 TROVE. telomere maintenance via recombination chromosome, telomeric region|cytoplasm|nuclear matrix|soluble fraction|telomerase holoenzyme complex ATP binding|RNA binding NS(4)|breast(1)|central_nervous_system(4)|endometrium(10)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(9)|lung(48)|ovary(7)|pancreas(1)|prostate(2)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1) 96 all_cancers(95;0.00123) all_lung(585;0.235) Epithelial(56;7.42e-08)|all cancers(55;6.46e-07) GBM - Glioblastoma multiforme(265;0.028)|READ - Rectum adenocarcinoma(17;0.233) GAGTAGAGCACAGCAAGCTCA 0.463 NOVA1 4857 broad.mit.edu 37 14 26941562 26941562 + Silent SNP A A C TCGA-19-5955-01A-11D-1696-08 TCGA-19-5955-11A-01D-1696-08 Untested Somatic Phase_I WXS none Illumina GAIIx c8abde95-f4d7-4d48-879b-bd584eaf8a25 cef2a217-c85e-4fb2-a319-d7a9a02417d4 g.chr14:26941562A>C uc001wqa.3 - 4 903 c.117T>G c.(115-117)tcT>tcG p.S39S NOVA1_uc001wpy.3_Silent_p.S161S|NOVA1_uc001wpz.3_Intron|NOVA1_uc001wqb.3_Silent_p.S161S NM_002515 NP_002506 P51513 NOVA1_HUMAN Homo sapiens neuro-oncological ventral antigen 1 (NOVA1), transcript variant 1, mRNA. 164 locomotory behavior|RNA splicing|synaptic transmission nucleus RNA binding breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(9)|liver(1)|lung(19)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(1) 40 GBM - Glioblastoma multiforme(265;0.0135) GATCAGATGGAGAGGACTTGG 0.428 RTN1 6252 broad.mit.edu 37 14 60212931 60212931 + Missense_Mutation SNP C C G TCGA-19-5955-01A-11D-1696-08 TCGA-19-5955-11A-01D-1696-08 Untested Somatic Phase_I WXS none Illumina GAIIx c8abde95-f4d7-4d48-879b-bd584eaf8a25 cef2a217-c85e-4fb2-a319-d7a9a02417d4 g.chr14:60212931C>G uc001xen.1 - 1 719 c.510G>C c.(508-510)atG>atC p.M170I NM_021136 NP_066959 Q16799 RTN1_HUMAN Homo sapiens reticulon 1 (RTN1), transcript variant 1, mRNA. 170 neuron differentiation integral to endoplasmic reticulum membrane signal transducer activity central_nervous_system(2)|kidney(2)|large_intestine(9)|lung(30)|ovary(2)|prostate(1)|skin(2)|urinary_tract(1) 49 OV - Ovarian serous cystadenocarcinoma(108;0.0968) CTGCAGGAGTCATCTCTATTC 0.512 RTN1 6252 broad.mit.edu 37 14 60213169 60213169 + Missense_Mutation SNP T T C TCGA-19-5955-01A-11D-1696-08 TCGA-19-5955-11A-01D-1696-08 Untested Somatic Phase_I WXS none Illumina GAIIx c8abde95-f4d7-4d48-879b-bd584eaf8a25 cef2a217-c85e-4fb2-a319-d7a9a02417d4 g.chr14:60213169T>C uc001xen.1 - 1 481 c.272A>G c.(271-273)cAc>cGc p.H91R NM_021136 NP_066959 Q16799 RTN1_HUMAN Homo sapiens reticulon 1 (RTN1), transcript variant 1, mRNA. 91 neuron differentiation integral to endoplasmic reticulum membrane signal transducer activity central_nervous_system(2)|kidney(2)|large_intestine(9)|lung(30)|ovary(2)|prostate(1)|skin(2)|urinary_tract(1) 49 OV - Ovarian serous cystadenocarcinoma(108;0.0968) TGAGAAGGTGTGGTCCATGGC 0.478 SYNE2 23224 broad.mit.edu 37 14 64430685 64430685 + Silent SNP T T C TCGA-19-5955-01A-11D-1696-08 TCGA-19-5955-11A-01D-1696-08 Untested Somatic Phase_I WXS none Illumina GAIIx c8abde95-f4d7-4d48-879b-bd584eaf8a25 cef2a217-c85e-4fb2-a319-d7a9a02417d4 g.chr14:64430685T>C uc001xgl.3 + 9 1187 c.957T>C c.(955-957)gaT>gaC p.D319D SYNE2_uc001xgm.3_Silent_p.D319D|SYNE2_uc021ruh.1_Silent_p.D319D NM_182914 NP_878918 Q8WXH0 SYNE2_HUMAN Homo sapiens spectrin repeat containing, nuclear envelope 2 (SYNE2), transcript variant 5, mRNA. 319 centrosome localization|cytoskeletal anchoring at nuclear membrane|nuclear migration along microfilament|positive regulation of cell migration cytoskeleton|filopodium membrane|focal adhesion|integral to membrane|lamellipodium membrane|mitochondrial part|nuclear outer membrane|nucleoplasm|sarcoplasmic reticulum membrane|SUN-KASH complex|Z disc actin binding|protein binding NS(5)|breast(17)|central_nervous_system(3)|cervix(8)|endometrium(17)|haematopoietic_and_lymphoid_tissue(2)|kidney(21)|large_intestine(34)|lung(75)|ovary(10)|pancreas(2)|prostate(8)|skin(8)|stomach(1)|upper_aerodigestive_tract(9)|urinary_tract(4) 224 all cancers(60;0.00153)|OV - Ovarian serous cystadenocarcinoma(108;0.00444)|BRCA - Breast invasive adenocarcinoma(234;0.0681) TGCTAAAGGATTCAGAGAATG 0.308 NEDD4 4734 broad.mit.edu 37 15 56132880 56132880 + Silent SNP G G A TCGA-19-5955-01A-11D-1696-08 TCGA-19-5955-11A-01D-1696-08 Untested Somatic Phase_I WXS none Illumina GAIIx c8abde95-f4d7-4d48-879b-bd584eaf8a25 cef2a217-c85e-4fb2-a319-d7a9a02417d4 g.chr15:56132880G>A uc002adj.3 - 15 3441 c.3141C>T c.(3139-3141)aaC>aaT p.N1047N NEDD4_uc002adl.3_Silent_p.N628N|NEDD4_uc002adi.3_Silent_p.N975N|NEDD4_uc010ugj.2_Silent_p.N1031N|NEDD4_uc010bfm.3_Silent_p.N1030N|NEDD4_uc002adk.3_Non-coding_Transcript NM_198400 NP_006145 P46934 NEDD4_HUMAN Homo sapiens neural precursor cell expressed, developmentally down-regulated 4 (NEDD4), transcript variant 2, mRNA. 1047 HECT. development involved in symbiotic interaction|glucocorticoid receptor signaling pathway|negative regulation of sodium ion transport|negative regulation of transcription from RNA polymerase II promoter in response to UV-induced DNA damage|negative regulation of vascular endothelial growth factor receptor signaling pathway|neuron projection development|positive regulation of nucleocytoplasmic transport|positive regulation of phosphatidylinositol 3-kinase cascade|positive regulation of protein catabolic process|progesterone receptor signaling pathway|protein K63-linked ubiquitination|protein targeting to lysosome|protein ubiquitination involved in ubiquitin-dependent protein catabolic process|receptor catabolic process|receptor internalization|regulation of dendrite morphogenesis|response to calcium ion|transmission of virus apicolateral plasma membrane|cell cortex|chromatin|cytosol|perinuclear region of cytoplasm|ubiquitin ligase complex beta-2 adrenergic receptor binding|phosphoserine binding|phosphothreonine binding|proline-rich region binding|protein domain specific binding|RNA polymerase binding|sodium channel inhibitor activity|ubiquitin binding|ubiquitin-protein ligase activity breast(1)|endometrium(3)|kidney(3)|large_intestine(10)|lung(15)|ovary(1)|prostate(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 43 all cancers(107;0.0299)|GBM - Glioblastoma multiforme(80;0.113) GGTGATCTTCGTTACACAATC 0.338 HS3ST6 64711 broad.mit.edu 37 16 1962204 1962204 + Missense_Mutation SNP C C A TCGA-19-5955-01A-11D-1696-08 TCGA-19-5955-11A-01D-1696-08 Untested Somatic Phase_I WXS none Illumina GAIIx c8abde95-f4d7-4d48-879b-bd584eaf8a25 cef2a217-c85e-4fb2-a319-d7a9a02417d4 g.chr16:1962204C>A uc002cnf.3 - 1 323 c.323G>T c.(322-324)aGt>aTt p.S108I TCRBV20S1_uc021tak.1_Intron NM_001009606 NP_001009606 C9JH64 C9JH64_HUMAN Homo sapiens heparan sulfate (glucosamine) 3-O-sulfotransferase 6 (HS3ST6), mRNA. 108 endometrium(2)|lung(2) 4 GGGCATCAGACTCCTGCGGGA 0.706 PHF12 57649 broad.mit.edu 37 17 27240276 27240276 + Missense_Mutation SNP G G A rs141809044 TCGA-19-5955-01A-11D-1696-08 TCGA-19-5955-11A-01D-1696-08 Untested Somatic Phase_I WXS none Illumina GAIIx c8abde95-f4d7-4d48-879b-bd584eaf8a25 cef2a217-c85e-4fb2-a319-d7a9a02417d4 g.chr17:27240276G>A uc002hdg.1 - 8 1843 c.1313C>T c.(1312-1314)gCg>gTg p.A438V PHF12_uc010wbb.1_Missense_Mutation_p.A420V|PHF12_uc002hdi.1_Missense_Mutation_p.A434V|PHF12_uc002hdj.1_Missense_Mutation_p.A438V|PHF12_uc010crw.1_Missense_Mutation_p.A141V|PHF12_uc002hdh.1_Missense_Mutation_p.A221V NM_001033561 NP_001028733 Q96QT6 PHF12_HUMAN Homo sapiens PHD finger protein 12 (PHF12), transcript variant 1, mRNA. 438 Interaction with SIN3A. negative regulation of transcription, DNA-dependent|transcription, DNA-dependent transcriptional repressor complex protein binding|zinc ion binding p.A438A(1) breast(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(6)|lung(8)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2) 30 all_cancers(5;1.95e-14)|all_epithelial(6;5e-18)|Lung NSC(42;0.01) Epithelial(11;1.64e-05)|all cancers(11;7.47e-05)|BRCA - Breast invasive adenocarcinoma(11;9.79e-05) GCACTGGAGCGCAACAACACT 0.532 ACACA 31 broad.mit.edu 37 17 35633950 35633950 + Silent SNP A A G TCGA-19-5955-01A-11D-1696-08 TCGA-19-5955-11A-01D-1696-08 Untested Somatic Phase_I WXS none Illumina GAIIx c8abde95-f4d7-4d48-879b-bd584eaf8a25 cef2a217-c85e-4fb2-a319-d7a9a02417d4 g.chr17:35633950A>G uc002hnm.3 - 6 858 c.667T>C c.(667-669)Ttg>Ctg p.L223L ACACA_uc002hnk.3_Silent_p.L145L|ACACA_uc002hnl.3_Silent_p.L165L|ACACA_uc002hnn.3_Silent_p.L223L|ACACA_uc002hno.3_Silent_p.L260L|ACACA_uc010cuz.3_Silent_p.L223L|ACACA_uc002hnq.2_Silent_p.L145L NM_198836 NP_942135 Q13085 ACACA_HUMAN Homo sapiens acetyl-CoA carboxylase alpha (ACACA), transcript variant 3, mRNA. 223 Biotin carboxylation. acetyl-CoA metabolic process|energy reserve metabolic process|fatty acid biosynthetic process|long-chain fatty-acyl-CoA biosynthetic process|positive regulation of cellular metabolic process|protein homotetramerization|triglyceride biosynthetic process cytosol acetyl-CoA carboxylase activity|ATP binding|biotin carboxylase activity|metal ion binding|protein binding NS(2)|breast(5)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(24)|lung(23)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2) 83 Breast(25;0.00157)|Ovarian(249;0.15) Biotin(DB00121) CCATTTTTCAAGAGAAGTTCC 0.403 KRTAP4-7 100132476 broad.mit.edu 37 17 39240673 39240673 + Missense_Mutation SNP C C T TCGA-19-5955-01A-11D-1696-08 TCGA-19-5955-11A-01D-1696-08 Untested Somatic Phase_I WXS none Illumina GAIIx c8abde95-f4d7-4d48-879b-bd584eaf8a25 cef2a217-c85e-4fb2-a319-d7a9a02417d4 g.chr17:39240673C>T uc010wfn.2 + 0 215 c.215C>T c.(214-216)aCg>aTg p.T72M NM_033061 NP_149050 Homo sapiens keratin associated protein 4-7 (KRTAP4-7), mRNA. NS(1)|endometrium(3)|kidney(1)|lung(1)|prostate(2)|urinary_tract(1) 9 TGCTGTGAGACGACctgctgc 0.652 KRTAP4-9 100132386 broad.mit.edu 37 17 39261693 39261693 + Missense_Mutation SNP A A T rs113059833 by1000genomes TCGA-19-5955-01A-11D-1696-08 TCGA-19-5955-11A-01D-1696-08 Untested Somatic Phase_I WXS none Illumina GAIIx c8abde95-f4d7-4d48-879b-bd584eaf8a25 cef2a217-c85e-4fb2-a319-d7a9a02417d4 g.chr17:39261693A>T uc010wfp.2 + 0 53 c.53A>T c.(52-54)gAc>gTc p.D18V NM_001146041 NP_001139513 Q9BYQ8 KRA49_HUMAN Homo sapiens keratin associated protein 4-9 (KRTAP4-9), mRNA. 18 keratin filament p.D18V(2) central_nervous_system(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|lung(1)|urinary_tract(3) 14 TGCGGCCAAGACCTCTGTCAG 0.627 COL1A1 1277 broad.mit.edu 37 17 48263379 48263379 + Silent SNP G G A TCGA-19-5955-01A-11D-1696-08 TCGA-19-5955-11A-01D-1696-08 Untested Somatic Phase_I WXS none Illumina GAIIx c8abde95-f4d7-4d48-879b-bd584eaf8a25 cef2a217-c85e-4fb2-a319-d7a9a02417d4 g.chr17:48263379G>A uc002iqm.3 - 49 4134 c.4008C>T c.(4006-4008)ttC>ttT p.F1336F DD181999_uc021tzy.1_5'Flank NM_000088 NP_000079 P02452 CO1A1_HUMAN Homo sapiens collagen, type I, alpha 1 (COL1A1), mRNA. 1336 Fibrillar collagen NC1. axon guidance|blood vessel development|collagen biosynthetic process|collagen fibril organization|embryonic skeletal system development|leukocyte migration|platelet activation|positive regulation of canonical Wnt receptor signaling pathway|positive regulation of cell migration|positive regulation of epithelial to mesenchymal transition|positive regulation of transcription, DNA-dependent|protein localization to nucleus|sensory perception of sound|skin morphogenesis|tooth mineralization|visual perception collagen type I|extracellular space|plasma membrane identical protein binding|platelet-derived growth factor binding COL1A1/PDGFB(429) NS(1)|breast(3)|central_nervous_system(8)|endometrium(3)|kidney(4)|large_intestine(17)|liver(3)|lung(18)|ovary(1)|pancreas(1)|prostate(4)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(1) 71 Collagenase(DB00048)|Palifermin(DB00039) CGCCATACTCGAACTGCAGGG 0.637 T """PDGFB, USP6""" """dermatofibrosarcoma protuberans, aneurysmal bone cyst """ Osteogenesis imperfecta ABCC3 8714 broad.mit.edu 37 17 48757178 48757178 + Nonsense_Mutation SNP G G A TCGA-19-5955-01A-11D-1696-08 TCGA-19-5955-11A-01D-1696-08 Untested Somatic Phase_I WXS none Illumina GAIIx c8abde95-f4d7-4d48-879b-bd584eaf8a25 cef2a217-c85e-4fb2-a319-d7a9a02417d4 g.chr17:48757178G>A uc002isl.3 + 25 3805 c.3725G>A c.(3724-3726)tGg>tAg p.W1242* ABCC3_uc002isn.3_5'UTR NM_003786 NP_003777 O15438 MRP3_HUMAN Homo sapiens ATP-binding cassette, sub-family C (CFTR/MRP), member 3 (ABCC3), transcript variant 1, mRNA. 1242 ABC transmembrane type-1 2. bile acid metabolic process integral to plasma membrane|membrane fraction ATP binding|bile acid-exporting ATPase activity|organic anion transmembrane transporter activity breast(1)|central_nervous_system(2)|endometrium(2)|kidney(1)|large_intestine(6)|liver(1)|lung(11)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2) 33 BRCA - Breast invasive adenocarcinoma(22;3.05e-09) Glibenclamide(DB01016) GCTCTGAACTGGATGATACGA 0.517 SOX9 6662 broad.mit.edu 37 17 70120351 70120351 + Silent SNP C C T TCGA-19-5955-01A-11D-1696-08 TCGA-19-5955-11A-01D-1696-08 Untested Somatic Phase_I WXS none Illumina GAIIx c8abde95-f4d7-4d48-879b-bd584eaf8a25 cef2a217-c85e-4fb2-a319-d7a9a02417d4 g.chr17:70120351C>T uc002jiw.3 + 2 1725 c.1353C>T c.(1351-1353)taC>taT p.Y451Y NM_000346 NP_000337 P48436 SOX9_HUMAN Homo sapiens SRY (sex determining region Y)-box 9 (SOX9), mRNA. 451 cAMP-mediated signaling|negative regulation of transcription, DNA-dependent|positive regulation of branching involved in ureteric bud morphogenesis|protein complex assembly|renal vesicle induction nucleus|protein complex core promoter sequence-specific DNA binding|enhancer binding|protein kinase A catalytic subunit binding|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription breast(1)|endometrium(2)|kidney(4)|large_intestine(11)|lung(5)|pancreas(1)|upper_aerodigestive_tract(2) 26 Colorectal(1115;0.245) STAD - Stomach adenocarcinoma(260;0.119) CCAGCTCCTACTACAGCCACG 0.637 SEPT9 10801 broad.mit.edu 37 17 75398771 75398771 + Missense_Mutation SNP C C T TCGA-19-5955-01A-11D-1696-08 TCGA-19-5955-11A-01D-1696-08 Untested Somatic Phase_I WXS none Illumina GAIIx c8abde95-f4d7-4d48-879b-bd584eaf8a25 cef2a217-c85e-4fb2-a319-d7a9a02417d4 g.chr17:75398771C>T uc002jts.4 + 2 833 c.707C>T c.(706-708)cCc>cTc p.P236L SEPT9_uc010wtk.2_Missense_Mutation_p.P217L|SEPT9_uc002jtt.4_Missense_Mutation_p.P72L|SEPT9_uc002jtu.4_Missense_Mutation_p.P218L|SEPT9_uc002jtv.3_Missense_Mutation_p.P229L|SEPT9_uc002jtw.3_Missense_Mutation_p.P72L|SEPT9_uc002jtx.1_Missense_Mutation_p.P72L|SEPT9_uc010wtl.2_5'Flank NM_001113491 NP_001106968 Q9UHD8 SEPT9_HUMAN Homo sapiens septin 9 (SEPT9), transcript variant 1, mRNA. 236 cell cycle|cell division|protein heterooligomerization microtubule|perinuclear region of cytoplasm|stress fiber GTP binding|GTPase activity|protein binding p.A235V(1) autonomic_ganglia(1)|breast(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(2)|ovary(1)|pancreas(1)|prostate(2) 16 BRCA - Breast invasive adenocarcinoma(99;0.153) GAGGCTACACCCCGGAGCCAG 0.627 GAA 2548 broad.mit.edu 37 17 78083809 78083809 + Silent SNP G G A TCGA-19-5955-01A-11D-1696-08 TCGA-19-5955-11A-01D-1696-08 Untested Somatic Phase_I WXS none Illumina GAIIx c8abde95-f4d7-4d48-879b-bd584eaf8a25 cef2a217-c85e-4fb2-a319-d7a9a02417d4 g.chr17:78083809G>A uc002jxp.3 + 8 1759 c.1392G>A c.(1390-1392)agG>agA p.R464R GAA_uc002jxo.3_Silent_p.R464R|GAA_uc002jxq.3_Silent_p.R464R NM_000152 NP_001073272 P10253 LYAG_HUMAN Homo sapiens glucosidase, alpha; acid (GAA), transcript variant 1, mRNA. 464 cardiac muscle contraction|diaphragm contraction|glycogen catabolic process|lysosome organization|tongue morphogenesis|vacuolar sequestering|ventricular cardiac muscle tissue morphogenesis lysosomal membrane carbohydrate binding|maltose alpha-glucosidase activity autonomic_ganglia(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|lung(6)|ovary(2)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1) 21 all_neural(118;0.117) OV - Ovarian serous cystadenocarcinoma(97;0.0292)|BRCA - Breast invasive adenocarcinoma(99;0.139) Acarbose(DB00284) GTCTGCGGAGGGGGGTTTTCA 0.657 SMCHD1 23347 broad.mit.edu 37 18 2700844 2700844 + Missense_Mutation SNP A A C TCGA-19-5955-01A-11D-1696-08 TCGA-19-5955-11A-01D-1696-08 Untested Somatic Phase_I WXS none Illumina GAIIx c8abde95-f4d7-4d48-879b-bd584eaf8a25 cef2a217-c85e-4fb2-a319-d7a9a02417d4 g.chr18:2700844A>C uc002klm.4 + 11 1764 c.1575A>C c.(1573-1575)aaA>aaC p.K525N SMCHD1_uc002klk.4_Non-coding_Transcript NM_015295 NP_056110 A6NHR9 SMHD1_HUMAN Homo sapiens structural maintenance of chromosomes flexible hinge domain containing 1 (SMCHD1), mRNA. 525 chromosome organization ATP binding NS(3)|breast(3)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(16)|lung(15)|pancreas(1) 45 GCACAAATAAATTGACGTTTA 0.338 CIDEA 1149 broad.mit.edu 37 18 12274238 12274238 + Silent SNP C C T rs143526030 byFrequency TCGA-19-5955-01A-11D-1696-08 TCGA-19-5955-11A-01D-1696-08 Untested Somatic Phase_I WXS none Illumina GAIIx c8abde95-f4d7-4d48-879b-bd584eaf8a25 cef2a217-c85e-4fb2-a319-d7a9a02417d4 g.chr18:12274238C>T uc002kqt.4 + 3 542 c.477C>T c.(475-477)taC>taT p.Y159Y CIDEA_uc002kqu.4_Silent_p.Y193Y|CIDEA_uc010dlc.3_Non-coding_Transcript NM_001279 NP_001270 O60543 CIDEA_HUMAN Homo sapiens cell death-inducing DFFA-like effector a (CIDEA), transcript variant 1, mRNA. 159 DNA damage response, signal transduction resulting in induction of apoptosis|DNA fragmentation involved in apoptotic nuclear change|lipid metabolic process|lipid storage|negative regulation of apoptosis|negative regulation of cytokine secretion|negative regulation of lipid catabolic process|negative regulation of transforming growth factor beta receptor signaling pathway|negative regulation of tumor necrosis factor production|positive regulation of sequestering of triglyceride|temperature homeostasis mitochondrial envelope|nucleus protein homodimerization activity central_nervous_system(1)|endometrium(1)|kidney(1)|lung(6)|ovary(1)|pancreas(1)|prostate(2) 13 CCGTGTCCTACGACATCCGGT 0.587 TICAM1 148022 broad.mit.edu 37 19 4817811 4817811 + Silent SNP G G A TCGA-19-5955-01A-11D-1696-08 TCGA-19-5955-11A-01D-1696-08 Untested Somatic Phase_I WXS none Illumina GAIIx c8abde95-f4d7-4d48-879b-bd584eaf8a25 cef2a217-c85e-4fb2-a319-d7a9a02417d4 g.chr19:4817811G>A uc002mbi.3 - 1 830 c.579C>T c.(577-579)tcC>tcT p.S193S TICAM1_uc021unj.1_Silent_p.S193S NM_182919 NP_891549 Q8IUC6 TCAM1_HUMAN Homo sapiens toll-like receptor adaptor molecule 1 (TICAM1), mRNA. 193 apoptosis|I-kappaB kinase/NF-kappaB cascade|inflammatory response|innate immune response|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|positive regulation of I-kappaB kinase/NF-kappaB cascade|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway cytosol|endosome membrane|plasma membrane protein kinase binding|signal transducer activity NS(2)|breast(2)|endometrium(2)|kidney(2)|large_intestine(4)|lung(6)|ovary(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(3) 26 UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.0139) TGGATCGCAGGGAGCACCCTT 0.652 MUC16 94025 broad.mit.edu 37 19 9058146 9058146 + Missense_Mutation SNP T T C TCGA-19-5955-01A-11D-1696-08 TCGA-19-5955-11A-01D-1696-08 Untested Somatic Phase_I WXS none Illumina GAIIx c8abde95-f4d7-4d48-879b-bd584eaf8a25 cef2a217-c85e-4fb2-a319-d7a9a02417d4 g.chr19:9058146T>C uc002mkp.3 - 2 29504 c.29300A>G c.(29299-29301)aAg>aGg p.K9767R NM_024690 NP_078966 Q8WXI7 MUC16_HUMAN Homo sapiens mucin 16, cell surface associated (MUC16), mRNA. 9769 Ser-rich.|Thr-rich. cell adhesion extracellular space|extrinsic to membrane|integral to membrane|plasma membrane protein binding NS(9)|autonomic_ganglia(1)|breast(26)|central_nervous_system(11)|cervix(1)|endometrium(46)|haematopoietic_and_lymphoid_tissue(5)|kidney(35)|large_intestine(91)|liver(1)|lung(278)|ovary(17)|pancreas(2)|prostate(17)|skin(18)|soft_tissue(1)|stomach(8)|upper_aerodigestive_tract(16)|urinary_tract(7) 590 TTCTGTAGTCTTCACCAGGCC 0.493 MUC16 94025 broad.mit.edu 37 19 9084687 9084687 + Silent SNP G G A TCGA-19-5955-01A-11D-1696-08 TCGA-19-5955-11A-01D-1696-08 Untested Somatic Phase_I WXS none Illumina GAIIx c8abde95-f4d7-4d48-879b-bd584eaf8a25 cef2a217-c85e-4fb2-a319-d7a9a02417d4 g.chr19:9084687G>A uc002mkp.3 - 0 7332 c.7128C>T c.(7126-7128)acC>acT p.T2376T NM_024690 NP_078966 Q8WXI7 MUC16_HUMAN Homo sapiens mucin 16, cell surface associated (MUC16), mRNA. 2376 Ser-rich.|Thr-rich. cell adhesion extracellular space|extrinsic to membrane|integral to membrane|plasma membrane protein binding NS(9)|autonomic_ganglia(1)|breast(26)|central_nervous_system(11)|cervix(1)|endometrium(46)|haematopoietic_and_lymphoid_tissue(5)|kidney(35)|large_intestine(91)|liver(1)|lung(278)|ovary(17)|pancreas(2)|prostate(17)|skin(18)|soft_tissue(1)|stomach(8)|upper_aerodigestive_tract(16)|urinary_tract(7) 590 AAGCTATGGAGGTGTTGATCA 0.438 IL28B 282617 broad.mit.edu 37 19 39734655 39734655 + Missense_Mutation SNP C C T TCGA-19-5955-01A-11D-1696-08 TCGA-19-5955-11A-01D-1696-08 Untested Somatic Phase_I WXS none Illumina GAIIx c8abde95-f4d7-4d48-879b-bd584eaf8a25 cef2a217-c85e-4fb2-a319-d7a9a02417d4 g.chr19:39734655C>T uc010xut.2 - 2 403 c.401G>A c.(400-402)cGg>cAg p.R134Q IL28B_uc010xuu.2_Missense_Mutation_p.R134Q NM_172139 NP_742151 Q8IZI9 IL28B_HUMAN Homo sapiens interleukin 28B (interferon, lambda 3) (IL28B), mRNA. 134 response to virus extracellular space cytokine activity breast(1)|central_nervous_system(1)|kidney(1)|large_intestine(2)|lung(8)|prostate(1)|upper_aerodigestive_tract(1) 15 all_cancers(60;2.81e-07)|all_lung(34;7.81e-08)|Lung NSC(34;9.29e-08)|all_epithelial(25;3.9e-07)|Ovarian(47;0.0315) Epithelial(26;1.55e-27)|all cancers(26;1.41e-24)|Lung(45;0.000278)|LUSC - Lung squamous cell carcinoma(53;0.000335) CACACAGGCCCGGAGCTGGGA 0.667 KLC3 147700 broad.mit.edu 37 19 45853908 45853908 + Missense_Mutation SNP C C T TCGA-19-5955-01A-11D-1696-08 TCGA-19-5955-11A-01D-1696-08 Untested Somatic Phase_I WXS none Illumina GAIIx c8abde95-f4d7-4d48-879b-bd584eaf8a25 cef2a217-c85e-4fb2-a319-d7a9a02417d4 g.chr19:45853908C>T uc002pbg.1 + 9 1424 c.1324C>T c.(1324-1326)Cgc>Tgc p.R442C KLC3_uc002pbf.1_Missense_Mutation_p.R428C|KLC3_uc010ejy.1_Missense_Mutation_p.R427C NM_177417 NP_803136 Q6P597 KLC3_HUMAN Homo sapiens kinesin light chain 3 (KLC3), mRNA. 428 cytoplasm|kinesin complex|microtubule microtubule motor activity breast(1)|central_nervous_system(2)|endometrium(2)|large_intestine(1)|lung(1)|ovary(1) 8 Ovarian(192;0.0728)|all_neural(266;0.112) OV - Ovarian serous cystadenocarcinoma(262;0.0226) GGCCCTTCGCCGCAGCAGCTC 0.692 TMEM143 55260 broad.mit.edu 37 19 48845929 48845929 + Missense_Mutation SNP C C T TCGA-19-5955-01A-11D-1696-08 TCGA-19-5955-11A-01D-1696-08 Untested Somatic Phase_I WXS none Illumina GAIIx c8abde95-f4d7-4d48-879b-bd584eaf8a25 cef2a217-c85e-4fb2-a319-d7a9a02417d4 g.chr19:48845929C>T uc002pix.1 - 5 842 c.833G>A c.(832-834)cGc>cAc p.R278H TMEM143_uc002piw.1_Intron|TMEM143_uc010xzn.1_Missense_Mutation_p.R213H|TMEM143_uc010elw.1_Missense_Mutation_p.R178H|TMEM143_uc010xzo.1_Missense_Mutation_p.R68H|TMEM143_uc002piy.1_Missense_Mutation_p.R243H|Mir_324_uc021uws.1_5'Flank NM_018273 NP_060743 Q96AN5 TM143_HUMAN Homo sapiens transmembrane protein 143 (TMEM143), mRNA. 278 integral to membrane|mitochondrion endometrium(2)|kidney(1)|large_intestine(2)|lung(9) 14 all_epithelial(76;9.64e-05)|all_lung(116;0.000147)|Lung NSC(112;0.000251)|Prostate(7;0.0187)|all_neural(266;0.0506)|Ovarian(192;0.113) OV - Ovarian serous cystadenocarcinoma(262;0.000149)|all cancers(93;0.000198)|Epithelial(262;0.0151)|GBM - Glioblastoma multiforme(486;0.0157) GAGCAGGGCGCGCTGCAGGGT 0.637 TMEM150B 284417 broad.mit.edu 37 19 55828201 55828201 + Missense_Mutation SNP G G A TCGA-19-5955-01A-11D-1696-08 TCGA-19-5955-11A-01D-1696-08 Untested Somatic Phase_I WXS none Illumina GAIIx c8abde95-f4d7-4d48-879b-bd584eaf8a25 cef2a217-c85e-4fb2-a319-d7a9a02417d4 g.chr19:55828201G>A uc010esw.1 - 6 631 c.458C>T c.(457-459)cCc>cTc p.P153L TMEM150B_uc010yfu.1_Missense_Mutation_p.P153L|TMEM150B_uc010yfv.1_Non-coding_Transcript|TMEM150B_uc010yfw.1_Non-coding_Transcript NM_001085488 NP_001078957 A6NC51 T150B_HUMAN Homo sapiens transmembrane protein 150B (TMEM150B), mRNA. 153 integral to membrane endometrium(1)|large_intestine(1)|lung(1) 3 CAGGCGGAGGGGCCCAATCCA 0.617 DCTN1 1639 broad.mit.edu 37 2 74598790 74598790 + Silent SNP C C T TCGA-19-5955-01A-11D-1696-08 TCGA-19-5955-11A-01D-1696-08 Untested Somatic Phase_I WXS none Illumina GAIIx c8abde95-f4d7-4d48-879b-bd584eaf8a25 cef2a217-c85e-4fb2-a319-d7a9a02417d4 g.chr2:74598790C>T uc002skx.3 - 7 837 c.519G>A c.(517-519)gcG>gcA p.A173A DCTN1_uc002skv.3_Silent_p.A39A|DCTN1_uc002sku.3_Silent_p.A39A|DCTN1_uc002skw.2_Silent_p.A166A|DCTN1_uc010ffd.3_Silent_p.A153A|DCTN1_uc002sky.3_Silent_p.A136A NM_004082 NP_004073 Q14203 DCTN1_HUMAN Homo sapiens dynactin 1 (DCTN1), transcript variant 1, mRNA. 173 Ser-rich. cell death|G2/M transition of mitotic cell cycle|mitosis|nervous system development centrosome|cytosol|kinetochore|microtubule|spindle pole motor activity|protein binding breast(2)|central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(20)|ovary(4)|prostate(1)|skin(3) 45 CACCTGCTGACGCTGAGCCAG 0.652 IL1RL2 8808 broad.mit.edu 37 2 102849423 102849423 + Missense_Mutation SNP A A T TCGA-19-5955-01A-11D-1696-08 TCGA-19-5955-11A-01D-1696-08 Untested Somatic Phase_I WXS none Illumina GAIIx c8abde95-f4d7-4d48-879b-bd584eaf8a25 cef2a217-c85e-4fb2-a319-d7a9a02417d4 g.chr2:102849423A>T uc002tbs.3 + 10 1262 c.1136_splice c.e10-1 p.D379_splice IL1RL2_uc002tbt.3_Splice_Site_p.D261_splice NM_003854 NP_003845 Q9HB29 ILRL2_HUMAN Homo sapiens interleukin 1 receptor-like 2 (IL1RL2), mRNA. 379 cellular defense response|innate immune response integral to plasma membrane interleukin-1, Type I, activating receptor activity breast(1)|cervix(1)|endometrium(5)|large_intestine(6)|liver(2)|lung(8)|ovary(2)|prostate(1) 26 TCCTTTTCAGATGGGAAGCTG 0.507 WASH2P 375260 broad.mit.edu 37 2 114355998 114355998 + Missense_Mutation SNP C C G TCGA-19-5955-01A-11D-1696-08 TCGA-19-5955-11A-01D-1696-08 Untested Somatic Phase_I WXS none Illumina GAIIx c8abde95-f4d7-4d48-879b-bd584eaf8a25 cef2a217-c85e-4fb2-a319-d7a9a02417d4 g.chr2:114355998C>G uc002tkh.3 + 4 674 c.616C>G c.(616-618)Cac>Gac p.H206D WASH2P_uc002tka.3_Non-coding_Transcript|WASH2P_uc002tkd.3_Non-coding_Transcript Homo sapiens WAS protein family homolog 2 pseudogene (WASH2P), non-coding RNA. CCAAGGTGGGCACTTGATGTC 0.612 TTN 7273 broad.mit.edu 37 2 179446667 179446667 + Silent SNP G G A TCGA-19-5955-01A-11D-1696-08 TCGA-19-5955-11A-01D-1696-08 Untested Somatic Phase_I WXS none Illumina GAIIx c8abde95-f4d7-4d48-879b-bd584eaf8a25 cef2a217-c85e-4fb2-a319-d7a9a02417d4 g.chr2:179446667G>A uc021vsy.1 - 263 58950 c.58725C>T c.(58723-58725)gaC>gaT p.D19575D MIR548N_uc021vsx.1_Intron|LOC100506866_uc002umo.3_Intron|LOC100506866_uc002ump.2_Intron|TTN_uc021vsz.1_Silent_p.D13270D|TTN_uc021vta.1_Silent_p.D13203D|TTN_uc021vtb.1_Silent_p.D13078D NM_133378 NP_596869 Q8WZ42 TITIN_HUMAN Homo sapiens titin (TTN), transcript variant N2-A, mRNA. 20502 Ig-like 109. ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity p.D13078D(1)|p.D13203D(1)|p.D19573D(1)|p.D13270D(1) 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) CCTTGGATGCGTCACTGGGTT 0.438 TTN 7273 broad.mit.edu 37 2 179666963 179666963 + Missense_Mutation SNP G G A TCGA-19-5955-01A-11D-1696-08 TCGA-19-5955-11A-01D-1696-08 Untested Somatic Phase_I WXS none Illumina GAIIx c8abde95-f4d7-4d48-879b-bd584eaf8a25 cef2a217-c85e-4fb2-a319-d7a9a02417d4 g.chr2:179666963G>A uc021vsy.1 - 2 422 c.197C>T c.(196-198)aCg>aTg p.T66M TTN_uc021vsz.1_Missense_Mutation_p.T66M|TTN_uc021vta.1_Missense_Mutation_p.T66M|TTN_uc021vtb.1_Missense_Mutation_p.T66M|TTN_uc002unb.2_Missense_Mutation_p.T66M|TTN_uc002und.3_Missense_Mutation_p.T66M NM_133378 NP_596869 Q8WZ42 TITIN_HUMAN Homo sapiens titin (TTN), transcript variant N2-A, mRNA. 66 Ig-like 1. 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) GGCGGGGATCGTCAGTTTAGC 0.547 SIRPD 128646 broad.mit.edu 37 20 1517818 1517818 + Missense_Mutation SNP C C T TCGA-19-5955-01A-11D-1696-08 TCGA-19-5955-11A-01D-1696-08 Untested Somatic Phase_I WXS none Illumina GAIIx c8abde95-f4d7-4d48-879b-bd584eaf8a25 cef2a217-c85e-4fb2-a319-d7a9a02417d4 g.chr20:1517818C>T uc002wfi.3 - 2 604 c.560G>A c.(559-561)cGg>cAg p.R187Q NM_178460 NP_848555 Q9H106 SIRPD_HUMAN Homo sapiens signal-regulatory protein delta (SIRPD), mRNA. 187 extracellular region breast(1)|kidney(2)|large_intestine(3)|lung(6)|ovary(2)|skin(1) 15 TCCCAGCAGCCGGAGGCAGCA 0.612 C20orf132 140699 broad.mit.edu 37 20 35776290 35776290 + Missense_Mutation SNP A A C TCGA-19-5955-01A-11D-1696-08 TCGA-19-5955-11A-01D-1696-08 Untested Somatic Phase_I WXS none Illumina GAIIx c8abde95-f4d7-4d48-879b-bd584eaf8a25 cef2a217-c85e-4fb2-a319-d7a9a02417d4 g.chr20:35776290A>C uc010zvu.2 - 10 1188 c.1097T>G c.(1096-1098)cTt>cGt p.L366R C20orf132_uc002xgk.3_Missense_Mutation_p.L49R|C20orf132_uc002xgm.2_Missense_Mutation_p.L366R|C20orf132_uc002xgn.2_Missense_Mutation_p.L331R NM_152503 NP_689716 Q9H579 CT132_HUMAN Homo sapiens chromosome 20 open reading frame 132 (C20orf132), transcript variant 1, mRNA. 251 p.R366R(1) endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|lung(4)|upper_aerodigestive_tract(1) 9 Myeloproliferative disorder(115;0.00878) TAGGTGTCCAAGTCTTTGGAA 0.478 PLXNB2 23654 broad.mit.edu 37 22 50717405 50717405 + Silent SNP G G A TCGA-19-5955-01A-11D-1696-08 TCGA-19-5955-11A-01D-1696-08 Untested Somatic Phase_I WXS none Illumina GAIIx c8abde95-f4d7-4d48-879b-bd584eaf8a25 cef2a217-c85e-4fb2-a319-d7a9a02417d4 g.chr22:50717405G>A uc003bkv.4 - 27 4518 c.4425C>T c.(4423-4425)gaC>gaT p.D1475D PLXNB2_uc003bkt.1_Silent_p.D267D|PLXNB2_uc003bku.1_Silent_p.D460D NM_012401 NP_036533 O15031 PLXB2_HUMAN Homo sapiens plexin B2 (PLXNB2), mRNA. 1475 regulation of small GTPase mediated signal transduction integral to membrane|intracellular GTPase activator activity|protein binding|receptor activity breast(2)|central_nervous_system(4)|cervix(2)|endometrium(11)|kidney(4)|large_intestine(3)|liver(1)|lung(20)|ovary(5)|prostate(6)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(2) 66 all_cancers(38;5.78e-13)|all_epithelial(38;1.71e-11)|all_lung(38;3.89e-05)|Breast(42;0.000523)|Lung NSC(38;0.000992)|Ovarian(80;0.0221)|Hepatocellular(38;0.0691)|Lung SC(80;0.113) BRCA - Breast invasive adenocarcinoma(115;0.205)|LUAD - Lung adenocarcinoma(64;0.247) CCGGGATGGCGTCCACTCCCT 0.622 DCLK3 85443 broad.mit.edu 37 3 36779980 36779980 + Silent SNP G G A TCGA-19-5955-01A-11D-1696-08 TCGA-19-5955-11A-01D-1696-08 Untested Somatic Phase_I WXS none Illumina GAIIx c8abde95-f4d7-4d48-879b-bd584eaf8a25 cef2a217-c85e-4fb2-a319-d7a9a02417d4 g.chr3:36779980G>A uc003cgi.2 - 1 662 c.171C>T c.(169-171)acC>acT p.T57T NM_033403 NP_208382 Q9C098 DCLK3_HUMAN Homo sapiens doublecortin-like kinase 3 (DCLK3), mRNA. 57 cytoplasm|nucleus ATP binding|protein serine/threonine kinase activity breast(3)|endometrium(3)|kidney(2)|large_intestine(11)|lung(20)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(2) 48 TGGGGGTCTCGGTCTCCCCAC 0.617 GOLGA4 2803 broad.mit.edu 37 3 37360647 37360647 + Nonsense_Mutation SNP C C T TCGA-19-5955-01A-11D-1696-08 TCGA-19-5955-11A-01D-1696-08 Untested Somatic Phase_I WXS none Illumina GAIIx c8abde95-f4d7-4d48-879b-bd584eaf8a25 cef2a217-c85e-4fb2-a319-d7a9a02417d4 g.chr3:37360647C>T uc003cgv.3 + 11 1867 c.1507C>T c.(1507-1509)Cga>Tga p.R503* GOLGA4_uc010hgr.2_Intron|GOLGA4_uc003cgw.3_Nonsense_Mutation_p.R525*|GOLGA4_uc010hgs.3_Intron|GOLGA4_uc003cgx.3_Nonsense_Mutation_p.R384* NM_002078 NP_002069 Q13439 GOGA4_HUMAN Homo sapiens golgin A4 (GOLGA4), transcript variant 2, mRNA. 503 Glu-rich. Golgi to plasma membrane protein transport Golgi membrane|trans-Golgi network protein binding NS(2)|breast(3)|central_nervous_system(3)|endometrium(6)|kidney(2)|large_intestine(17)|liver(2)|lung(16)|ovary(4)|prostate(2)|skin(4)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 65 GCTTCAGACCCGAGAAAGGGA 0.378 VIPR1 7433 broad.mit.edu 37 3 42567437 42567437 + Silent SNP G G A TCGA-19-5955-01A-11D-1696-08 TCGA-19-5955-11A-01D-1696-08 Untested Somatic Phase_I WXS none Illumina GAIIx c8abde95-f4d7-4d48-879b-bd584eaf8a25 cef2a217-c85e-4fb2-a319-d7a9a02417d4 g.chr3:42567437G>A uc003clf.2 + 3 475 c.351G>A c.(349-351)ccG>ccA p.P117P VIPR1_uc021wwl.1_Silent_p.P76P|VIPR1_uc011azn.2_Silent_p.P90P|VIPR1_uc011azl.1_Silent_p.P70P|VIPR1_uc011azm.1_5'UTR NM_004624 NP_001238811 P32241 VIPR1_HUMAN Homo sapiens vasoactive intestinal peptide receptor 1 (VIPR1), transcript variant 1, mRNA. 117 digestion|G-protein signaling, coupled to cyclic nucleotide second messenger|immune response|muscle contraction|positive regulation of cell proliferation|synaptic transmission integral to plasma membrane vasoactive intestinal polypeptide receptor activity endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(6)|ovary(2)|skin(1)|urinary_tract(3) 18 KIRC - Kidney renal clear cell carcinoma(284;0.241) AGCCTGGCCCGTACCCCATTG 0.662 GRM2 2912 broad.mit.edu 37 3 51746533 51746533 + Silent SNP C C T TCGA-19-5955-01A-11D-1696-08 TCGA-19-5955-11A-01D-1696-08 Untested Somatic Phase_I WXS none Illumina GAIIx c8abde95-f4d7-4d48-879b-bd584eaf8a25 cef2a217-c85e-4fb2-a319-d7a9a02417d4 g.chr3:51746533C>T uc010hlv.3 + 2 734 c.495C>T c.(493-495)taC>taT p.Y165Y GRM2_uc003dbo.4_Intron|GRM2_uc010hlu.3_Non-coding_Transcript NM_000839 NP_000830 Q14416 GRM2_HUMAN Homo sapiens glutamate receptor, metabotropic 2 (GRM2), transcript variant 1, mRNA. 165 synaptic transmission integral to plasma membrane breast(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|liver(1)|lung(11)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1) 33 BRCA - Breast invasive adenocarcinoma(193;8.01e-05)|Kidney(197;0.000539)|KIRC - Kidney renal clear cell carcinoma(197;0.000716) Acamprosate(DB00659)|Nicotine(DB00184) AGATTAGCTACGCCTCTACCA 0.532 TRAT1 50852 broad.mit.edu 37 3 108572525 108572525 + Missense_Mutation SNP G G A TCGA-19-5955-01A-11D-1696-08 TCGA-19-5955-11A-01D-1696-08 Untested Somatic Phase_I WXS none Illumina GAIIx c8abde95-f4d7-4d48-879b-bd584eaf8a25 cef2a217-c85e-4fb2-a319-d7a9a02417d4 g.chr3:108572525G>A uc003dxi.1 + 5 506 c.362G>A c.(361-363)cGt>cAt p.R121H TRAT1_uc010hpx.1_Missense_Mutation_p.R84H NM_016388 NP_057472 Q6PIZ9 TRAT1_HUMAN Homo sapiens T cell receptor associated transmembrane adaptor 1 (TRAT1), mRNA. 121 cellular defense response|negative regulation of receptor recycling|negative regulation of transport|positive regulation of calcium-mediated signaling|positive regulation of T cell receptor signaling pathway|T cell receptor signaling pathway integral to plasma membrane|T cell receptor complex phosphatidylinositol-4,5-bisphosphate 3-kinase activity|transmembrane receptor protein tyrosine kinase adaptor activity endometrium(2)|kidney(2)|large_intestine(2)|lung(18)|prostate(1)|skin(3) 28 AAGGGGAAGCGTAGAAAGCCC 0.423 GPR156 165829 broad.mit.edu 37 3 119962857 119962857 + Missense_Mutation SNP G G A TCGA-19-5955-01A-11D-1696-08 TCGA-19-5955-11A-01D-1696-08 Untested Somatic Phase_I WXS none Illumina GAIIx c8abde95-f4d7-4d48-879b-bd584eaf8a25 cef2a217-c85e-4fb2-a319-d7a9a02417d4 g.chr3:119962857G>A uc011bjf.2 - 0 469 c.89C>T c.(88-90)aCa>aTa p.T30I GPR156_uc011bjg.2_Missense_Mutation_p.T30I NM_153002 NP_694547 Q8NFN8 GP156_HUMAN Homo sapiens G protein-coupled receptor 156 (GPR156), transcript variant 1, mRNA. 30 integral to membrane|plasma membrane G-protein coupled receptor activity|GABA-B receptor activity breast(2)|endometrium(3)|kidney(1)|large_intestine(11)|lung(12)|ovary(1)|prostate(1)|skin(1) 32 GBM - Glioblastoma multiforme(114;0.19) TACAATTGTTGTCTTGCAGAG 0.537 DBR1 51163 broad.mit.edu 37 3 137890532 137890532 + Nonsense_Mutation SNP G G A TCGA-19-5955-01A-11D-1696-08 TCGA-19-5955-11A-01D-1696-08 Untested Somatic Phase_I WXS none Illumina GAIIx c8abde95-f4d7-4d48-879b-bd584eaf8a25 cef2a217-c85e-4fb2-a319-d7a9a02417d4 g.chr3:137890532G>A uc003erv.3 - 2 500 c.346C>T c.(346-348)Cga>Tga p.R116* DBR1_uc003eru.3_Nonsense_Mutation_p.R65* NM_016216 NP_057300 Q9UK59 DBR1_HUMAN Homo sapiens debranching enzyme homolog 1 (S. cerevisiae) (DBR1), mRNA. 116 nucleus metal ion binding|RNA lariat debranching enzyme activity NS(1)|kidney(1)|large_intestine(4)|lung(8)|skin(1) 15 CTTACACCTCGGTATTTTACC 0.343 CLSTN2 64084 broad.mit.edu 37 3 140185512 140185512 + Missense_Mutation SNP G G A TCGA-19-5955-01A-11D-1696-08 TCGA-19-5955-11A-01D-1696-08 Untested Somatic Phase_I WXS none Illumina GAIIx c8abde95-f4d7-4d48-879b-bd584eaf8a25 cef2a217-c85e-4fb2-a319-d7a9a02417d4 g.chr3:140185512G>A uc003etn.3 + 7 1473 c.1283G>A c.(1282-1284)cGg>cAg p.R428Q CLSTN2_uc003etm.2_Missense_Mutation_p.R428Q NM_022131 NP_071414 Q9H4D0 CSTN2_HUMAN Homo sapiens calsyntenin 2 (CLSTN2), mRNA. 428 homophilic cell adhesion endoplasmic reticulum membrane|Golgi membrane|integral to membrane|plasma membrane calcium ion binding NS(1)|breast(2)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(13)|liver(1)|lung(42)|pancreas(2)|prostate(1)|skin(6)|stomach(1)|upper_aerodigestive_tract(8)|urinary_tract(1) 87 TTTCTCTTGCGGAAGGACTTC 0.542 HNSCC(16;0.037) ZBBX 79740 broad.mit.edu 37 3 167083682 167083682 + Missense_Mutation SNP C C A TCGA-19-5955-01A-11D-1696-08 TCGA-19-5955-11A-01D-1696-08 Untested Somatic Phase_I WXS none Illumina GAIIx c8abde95-f4d7-4d48-879b-bd584eaf8a25 cef2a217-c85e-4fb2-a319-d7a9a02417d4 g.chr3:167083682C>A uc011bpc.2 - 5 602 c.265G>T c.(265-267)Gtt>Ttt p.V89F ZBBX_uc003feq.3_Missense_Mutation_p.V60F|ZBBX_uc003fep.3_Missense_Mutation_p.V89F NM_001199201 NP_001186130 A8MT70 ZBBX_HUMAN Homo sapiens zinc finger, B-box domain containing (ZBBX), transcript variant 1, mRNA. 89 intracellular zinc ion binding NS(1)|breast(1)|endometrium(5)|kidney(5)|large_intestine(9)|liver(1)|lung(38)|ovary(2)|prostate(1)|skin(4)|stomach(2)|upper_aerodigestive_tract(1) 70 ACCTTAACAACATTTCCTTTA 0.294 FRYL 285527 broad.mit.edu 37 4 48559529 48559529 + Missense_Mutation SNP A A C TCGA-19-5955-01A-11D-1696-08 TCGA-19-5955-11A-01D-1696-08 Untested Somatic Phase_I WXS none Illumina GAIIx c8abde95-f4d7-4d48-879b-bd584eaf8a25 cef2a217-c85e-4fb2-a319-d7a9a02417d4 g.chr4:48559529A>C uc003gyh.1 - 33 4671 c.4066T>G c.(4066-4068)Tgg>Ggg p.W1356G FRYL_uc003gyk.3_Missense_Mutation_p.W1356G|FRYL_uc003gyg.1_Missense_Mutation_p.W52G|FRYL_uc003gyi.1_Missense_Mutation_p.W245G NM_015030 NP_055845 O94915 FRYL_HUMAN Homo sapiens FRY-like (FRYL), mRNA. 1356 regulation of transcription, DNA-dependent|transcription, DNA-dependent protein binding p.W1356G(2) breast(2)|central_nervous_system(2)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(21)|lung(38)|ovary(1)|pancreas(1)|prostate(3)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1) 91 GGAGATCCCCATCCTTCTCCC 0.423 CWH43 80157 broad.mit.edu 37 4 49040170 49040170 + Silent SNP A A C TCGA-19-5955-01A-11D-1696-08 TCGA-19-5955-11A-01D-1696-08 Untested Somatic Phase_I WXS none Illumina GAIIx c8abde95-f4d7-4d48-879b-bd584eaf8a25 cef2a217-c85e-4fb2-a319-d7a9a02417d4 g.chr4:49040170A>C uc003gyv.3 + 12 1958 c.1776A>C c.(1774-1776)ctA>ctC p.L592L CWH43_uc011bzl.2_Silent_p.L565L NM_025087 NP_079363 Q9H720 PG2IP_HUMAN Homo sapiens cell wall biogenesis 43 C-terminal homolog (S. cerevisiae) (CWH43), mRNA. 592 GPI anchor biosynthetic process integral to membrane cervix(1)|endometrium(4)|kidney(1)|large_intestine(4)|lung(26)|ovary(1)|prostate(1)|skin(4)|urinary_tract(1) 43 GAGATTATCTACAGCTCACTG 0.323 CSN2 1447 broad.mit.edu 37 4 70823249 70823249 + Missense_Mutation SNP G G T TCGA-19-5955-01A-11D-1696-08 TCGA-19-5955-11A-01D-1696-08 Untested Somatic Phase_I WXS none Illumina GAIIx c8abde95-f4d7-4d48-879b-bd584eaf8a25 cef2a217-c85e-4fb2-a319-d7a9a02417d4 g.chr4:70823249G>T uc003hes.4 - 4 431 c.418C>A c.(418-420)Cat>Aat p.H140N CSN2_uc003het.4_Missense_Mutation_p.H139N NM_001891 NP_001882 P05814 CASB_HUMAN Homo sapiens casein beta (CSN2), mRNA. 140 H -> Q (in Ref. 3; CAA34916). calcium ion transport extracellular region calcium ion binding|enzyme inhibitor activity|transporter activity haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(6)|skin(2) 12 AGAGGAAGATGCAGATTTTCA 0.507 WDFY3 23001 broad.mit.edu 37 4 85719250 85719250 + Missense_Mutation SNP C C T TCGA-19-5955-01A-11D-1696-08 TCGA-19-5955-11A-01D-1696-08 Untested Somatic Phase_I WXS none Illumina GAIIx c8abde95-f4d7-4d48-879b-bd584eaf8a25 cef2a217-c85e-4fb2-a319-d7a9a02417d4 g.chr4:85719250C>T uc003hpd.3 - 17 3242 c.2834G>A c.(2833-2835)cGt>cAt p.R945H NM_014991 NP_055806 Q8IZQ1 WDFY3_HUMAN Homo sapiens WD repeat and FYVE domain containing 3 (WDFY3), mRNA. 945 cytoplasmic part|extrinsic to membrane|nuclear envelope 1-phosphatidylinositol binding|metal ion binding|protein binding p.R945H(2) breast(5)|central_nervous_system(5)|endometrium(15)|haematopoietic_and_lymphoid_tissue(3)|kidney(8)|large_intestine(32)|lung(50)|ovary(3)|prostate(5)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(2) 134 Hepatocellular(203;0.114) OV - Ovarian serous cystadenocarcinoma(123;0.000808) ACTTGCCAAACGTAAAAACTC 0.313 ADAM29 11086 broad.mit.edu 37 4 175898963 175898963 + Missense_Mutation SNP G G C TCGA-19-5955-01A-11D-1696-08 TCGA-19-5955-11A-01D-1696-08 Untested Somatic Phase_I WXS none Illumina GAIIx c8abde95-f4d7-4d48-879b-bd584eaf8a25 cef2a217-c85e-4fb2-a319-d7a9a02417d4 g.chr4:175898963G>C uc003iuc.3 + 4 2957 c.2287G>C c.(2287-2289)Gtg>Ctg p.V763L ADAM29_uc003iud.3_Missense_Mutation_p.V763L|ADAM29_uc010irr.3_Missense_Mutation_p.V763L|ADAM29_uc011cki.2_Missense_Mutation_p.V763L|ADAM29_uc021xuo.1_Missense_Mutation_p.V763L NM_014269 NP_055084 Q9UKF5 ADA29_HUMAN Homo sapiens ADAM metallopeptidase domain 29 (ADAM29), transcript variant 1, mRNA. 763 9 X 9 AA approximate repeats. proteolysis|spermatogenesis integral to plasma membrane metalloendopeptidase activity|zinc ion binding p.V763M(2) NS(1)|breast(1)|central_nervous_system(3)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(16)|lung(25)|ovary(3)|pancreas(1)|prostate(7)|skin(24)|urinary_tract(2) 93 Breast(14;0.00908)|Melanoma(52;0.00951)|Prostate(90;0.00996)|Renal(120;0.0183)|all_hematologic(60;0.107)|all_neural(102;0.164) all cancers(43;3.08e-19)|Epithelial(43;6.24e-18)|OV - Ovarian serous cystadenocarcinoma(60;1.78e-09)|STAD - Stomach adenocarcinoma(60;0.00303)|GBM - Glioblastoma multiforme(59;0.0106)|LUSC - Lung squamous cell carcinoma(193;0.0286) TCAACCTCCTGTGACACCCTC 0.567 PIK3R1 5295 broad.mit.edu 37 5 67591246 67591246 + Splice_Site SNP A A G TCGA-19-5955-01A-11D-1696-08 TCGA-19-5955-11A-01D-1696-08 Untested Somatic Phase_I WXS none Illumina GAIIx c8abde95-f4d7-4d48-879b-bd584eaf8a25 cef2a217-c85e-4fb2-a319-d7a9a02417d4 g.chr5:67591246A>G uc003jva.3 + 14 2326 c.1746_splice c.e14-2 p.M582_splice PIK3R1_uc003jvc.3_Splice_Site_p.M282_splice|PIK3R1_uc003jvd.3_Splice_Site_p.M312_splice|PIK3R1_uc003jve.3_Splice_Site_p.M261_splice|PIK3R1_uc021xzn.1_Splice_Site_p.M219_splice|PIK3R1_uc011crb.2_Splice_Site_p.M252_splice NM_181523 NP_852664 P27986 P85A_HUMAN Homo sapiens phosphoinositide-3-kinase, regulatory subunit 1 (alpha) (PIK3R1), transcript variant 1, mRNA. 582 epidermal growth factor receptor signaling pathway|fibroblast growth factor receptor signaling pathway|growth hormone receptor signaling pathway|insulin receptor signaling pathway|insulin-like growth factor receptor signaling pathway|interspecies interaction between organisms|leukocyte migration|nerve growth factor receptor signaling pathway|phosphatidylinositol 3-kinase cascade|phosphatidylinositol phosphorylation|phosphatidylinositol-mediated signaling|platelet activation|positive regulation of establishment of protein localization in plasma membrane|positive regulation of glucose import|T cell costimulation|T cell receptor signaling pathway 1-phosphatidylinositol-4-phosphate 3-kinase, class IA complex 1-phosphatidylinositol binding|ErbB-3 class receptor binding|insulin binding|insulin receptor binding|insulin receptor substrate binding|insulin-like growth factor receptor binding|phosphatidylinositol 3-kinase regulator activity|protein phosphatase binding p.?(10)|p.Y580fs*1(1)|p.0?(1) breast(12)|central_nervous_system(31)|cervix(1)|endometrium(68)|haematopoietic_and_lymphoid_tissue(5)|kidney(1)|large_intestine(32)|lung(10)|ovary(9)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(2) 178 Lung NSC(167;1.99e-05)|Prostate(74;0.00308)|Ovarian(174;0.00473)|Colorectal(97;0.0176) OV - Ovarian serous cystadenocarcinoma(47;3.76e-51)|Lung(70;0.0211) Isoproterenol(DB01064) ACTGTTTTTCAGGTGGTTGAC 0.363 """Mis, F, O""" """gliobastoma, ovarian, colorectal""" TCGA GBM(4;<1E-08) SLCO6A1 133482 broad.mit.edu 37 5 101709074 101709074 + Silent SNP T T C rs146381310 byFrequency TCGA-19-5955-01A-11D-1696-08 TCGA-19-5955-11A-01D-1696-08 Untested Somatic Phase_I WXS none Illumina GAIIx c8abde95-f4d7-4d48-879b-bd584eaf8a25 cef2a217-c85e-4fb2-a319-d7a9a02417d4 g.chr5:101709074T>C uc003knn.3 - 12 2314 c.2142A>G c.(2140-2142)aaA>aaG p.K714K SLCO6A1_uc003kno.3_Silent_p.K461K|SLCO6A1_uc003knp.3_Silent_p.K714K|SLCO6A1_uc003knq.3_Silent_p.K652K NM_173488 NP_775759 Q86UG4 SO6A1_HUMAN Homo sapiens solute carrier organic anion transporter family, member 6A1 (SLCO6A1), mRNA. 714 integral to membrane|plasma membrane transporter activity breast(1)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(17)|lung(22)|ovary(3)|prostate(4)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(1) 60 all_cancers(142;8e-09)|all_epithelial(76;2.83e-12)|Prostate(80;0.00125)|Colorectal(57;0.00342)|Ovarian(225;0.024)|Lung NSC(167;0.0259)|all_lung(232;0.0323) Epithelial(69;1.47e-15)|COAD - Colon adenocarcinoma(37;0.0113) CAGTTTCTTCTTTTTTCTTAA 0.274 PCDHAC2 56138 broad.mit.edu 37 5 140249928 140249928 + Missense_Mutation SNP C C A TCGA-19-5955-01A-11D-1696-08 TCGA-19-5955-11A-01D-1696-08 Untested Somatic Phase_I WXS none Illumina GAIIx c8abde95-f4d7-4d48-879b-bd584eaf8a25 cef2a217-c85e-4fb2-a319-d7a9a02417d4 g.chr5:140249928C>A uc003lia.2 + 0 2098 c.1240C>A c.(1240-1242)Cgc>Agc p.R414S PCDHAC2_uc003lha.2_Intron|PCDHAC2_uc003lhb.2_Intron|PCDHAC2_uc003lhd.2_Intron|PCDHAC2_uc003lhf.2_Intron|PCDHAC2_uc003lhh.1_Intron|PCDHAC2_uc003lhi.2_Intron|PCDHAC2_uc003lhl.2_Intron|PCDHAC2_uc003lhk.1_Intron|PCDHAC2_uc003lho.2_Intron|PCDHAC2_uc003lhn.2_Intron|PCDHAC2_uc003lhq.2_Intron|PCDHAC2_uc003lhs.2_Intron|PCDHAC2_uc003lhu.2_Intron|PCDHAC2_uc003lhw.2_Intron|PCDHAC2_uc003lhx.2_Intron|PCDHAC2_uc011dae.2_Missense_Mutation_p.R414S NM_018902 NP_061725 Q9Y5I4 PCDC2_HUMAN Homo sapiens protocadherin alpha 11 (PCDHA11), transcript variant 1, mRNA. 429 Cadherin 4. homophilic cell adhesion|nervous system development integral to plasma membrane calcium ion binding NS(1)|breast(1)|endometrium(4)|kidney(4)|large_intestine(10)|liver(2)|lung(9)|ovary(2)|prostate(1)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(1) 45 KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191) CGCCCTGGACCGCGAGAACGT 0.627 PCDHAC2 56138 broad.mit.edu 37 5 140250294 140250294 + Missense_Mutation SNP G G A TCGA-19-5955-01A-11D-1696-08 TCGA-19-5955-11A-01D-1696-08 Untested Somatic Phase_I WXS none Illumina GAIIx c8abde95-f4d7-4d48-879b-bd584eaf8a25 cef2a217-c85e-4fb2-a319-d7a9a02417d4 g.chr5:140250294G>A uc003lia.2 + 0 2464 c.1606G>A c.(1606-1608)Gcg>Acg p.A536T PCDHAC2_uc003lha.2_Intron|PCDHAC2_uc003lhb.2_Intron|PCDHAC2_uc003lhd.2_Intron|PCDHAC2_uc003lhf.2_Intron|PCDHAC2_uc003lhh.1_Intron|PCDHAC2_uc003lhi.2_Intron|PCDHAC2_uc003lhl.2_Intron|PCDHAC2_uc003lhk.1_Intron|PCDHAC2_uc003lho.2_Intron|PCDHAC2_uc003lhn.2_Intron|PCDHAC2_uc003lhq.2_Intron|PCDHAC2_uc003lhs.2_Intron|PCDHAC2_uc003lhu.2_Intron|PCDHAC2_uc003lhw.2_Intron|PCDHAC2_uc003lhx.2_Intron|PCDHAC2_uc011dae.2_Missense_Mutation_p.A536T NM_018902 NP_061725 Q9Y5I4 PCDC2_HUMAN Homo sapiens protocadherin alpha 11 (PCDHA11), transcript variant 1, mRNA. 551 Cadherin 5. homophilic cell adhesion|nervous system development integral to plasma membrane calcium ion binding NS(1)|breast(1)|endometrium(4)|kidney(4)|large_intestine(10)|liver(2)|lung(9)|ovary(2)|prostate(1)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(1) 45 KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191) CCAGGTGAGCGCGCGCGATGC 0.672 PCDHB7 56129 broad.mit.edu 37 5 140553185 140553185 + Missense_Mutation SNP G G A TCGA-19-5955-01A-11D-1696-08 TCGA-19-5955-11A-01D-1696-08 Untested Somatic Phase_I WXS none Illumina GAIIx c8abde95-f4d7-4d48-879b-bd584eaf8a25 cef2a217-c85e-4fb2-a319-d7a9a02417d4 g.chr5:140553185G>A uc003lit.3 + 0 943 c.769G>A c.(769-771)Gtt>Att p.V257I NM_018940 NP_061763 Q9Y5E2 PCDB7_HUMAN Homo sapiens protocadherin beta 7 (PCDHB7), mRNA. 257 Cadherin 3. calcium-dependent cell-cell adhesion|homophilic cell adhesion integral to membrane|plasma membrane calcium ion binding NS(2)|breast(2)|central_nervous_system(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(20)|lung(54)|ovary(5)|prostate(7)|skin(7)|upper_aerodigestive_tract(4)|urinary_tract(1) 119 KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339) AAATAGCCCCGTTGGTTCCAT 0.502 PCDHB14 56122 broad.mit.edu 37 5 140605446 140605446 + Missense_Mutation SNP G G A TCGA-19-5955-01A-11D-1696-08 TCGA-19-5955-11A-01D-1696-08 Untested Somatic Phase_I WXS none Illumina GAIIx c8abde95-f4d7-4d48-879b-bd584eaf8a25 cef2a217-c85e-4fb2-a319-d7a9a02417d4 g.chr5:140605446G>A uc003ljb.3 + 0 2369 c.2369G>A c.(2368-2370)cGa>cAa p.R790Q NM_018934 NP_061757 Q9Y5E9 PCDBE_HUMAN Homo sapiens protocadherin beta 14 (PCDHB14), mRNA. 790 calcium-dependent cell-cell adhesion|homophilic cell adhesion|synapse assembly|synaptic transmission integral to membrane|plasma membrane calcium ion binding p.R790*(2) NS(1)|breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(21)|ovary(2)|prostate(3)|skin(6)|urinary_tract(1) 49 KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339) GAGAACTTTCGAAATAGCTTT 0.348 BTBD9 114781 broad.mit.edu 37 6 38256068 38256068 + Silent SNP C C T TCGA-19-5955-01A-11D-1696-08 TCGA-19-5955-11A-01D-1696-08 Untested Somatic Phase_I WXS none Illumina GAIIx c8abde95-f4d7-4d48-879b-bd584eaf8a25 cef2a217-c85e-4fb2-a319-d7a9a02417d4 g.chr6:38256068C>T uc003ooa.4 - 8 2010 c.1434G>A c.(1432-1434)ccG>ccA p.P478P BTBD9_uc010jwv.3_Silent_p.P448P|BTBD9_uc003ony.4_Silent_p.P410P|BTBD9_uc010jww.3_Non-coding_Transcript|BTBD9_uc010jwx.3_Silent_p.P478P NM_052893 NP_689946 Q96Q07 BTBD9_HUMAN Homo sapiens BTB (POZ) domain containing 9 (BTBD9), transcript variant 1, mRNA. 478 cell adhesion breast(2)|endometrium(1)|kidney(2)|large_intestine(3)|lung(3)|prostate(1) 12 CAATCATGTACGGTTGTGCCA 0.398 PKHD1 5314 broad.mit.edu 37 6 51524416 51524416 + Missense_Mutation SNP A A G TCGA-19-5955-01A-11D-1696-08 TCGA-19-5955-11A-01D-1696-08 Untested Somatic Phase_I WXS none Illumina GAIIx c8abde95-f4d7-4d48-879b-bd584eaf8a25 cef2a217-c85e-4fb2-a319-d7a9a02417d4 g.chr6:51524416A>G uc003pah.1 - 60 10784 c.10508T>C c.(10507-10509)cTc>cCc p.L3503P NM_138694 NP_619639 P08F94 PKHD1_HUMAN Homo sapiens polycystic kidney and hepatic disease 1 (autosomal recessive) (PKHD1), transcript variant 1, mRNA. 3503 cell-cell adhesion|cilium assembly|homeostatic process|kidney development|negative regulation of cellular component movement anchored to external side of plasma membrane|apical plasma membrane|integral to membrane|microtubule basal body protein binding|receptor activity NS(1)|autonomic_ganglia(1)|breast(8)|central_nervous_system(5)|cervix(1)|endometrium(16)|haematopoietic_and_lymphoid_tissue(4)|kidney(11)|large_intestine(59)|lung(139)|ovary(16)|prostate(8)|skin(20)|soft_tissue(1)|stomach(2)|upper_aerodigestive_tract(7)|urinary_tract(5) 304 Lung NSC(77;0.0605) GGGGCTCTGGAGCTCATGGTA 0.438 DOPEY1 23033 broad.mit.edu 37 6 83847935 83847935 + Silent SNP T T C TCGA-19-5955-01A-11D-1696-08 TCGA-19-5955-11A-01D-1696-08 Untested Somatic Phase_I WXS none Illumina GAIIx c8abde95-f4d7-4d48-879b-bd584eaf8a25 cef2a217-c85e-4fb2-a319-d7a9a02417d4 g.chr6:83847935T>C uc011dyy.2 + 20 4407 c.4147T>C c.(4147-4149)Ttg>Ctg p.L1383L DOPEY1_uc003pjs.1_Silent_p.L1392L|DOPEY1_uc010kbl.1_Silent_p.L1383L|DOPEY1_uc003pjt.3_Non-coding_Transcript NM_001199942 NP_001186871 Q5JWR5 DOP1_HUMAN Homo sapiens dopey family member 1 (DOPEY1), transcript variant 2, mRNA. 1392 protein transport breast(4)|central_nervous_system(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(15)|lung(16)|ovary(5)|pancreas(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(2) 67 all_cancers(76;2.29e-06)|Acute lymphoblastic leukemia(125;3.41e-06)|all_hematologic(105;0.000865)|all_epithelial(107;0.00203) BRCA - Breast invasive adenocarcinoma(397;0.053) CAAAGCCATCTTGAAAACTAA 0.383 IKZF1 10320 broad.mit.edu 37 7 50468241 50468241 + Nonsense_Mutation SNP C C A TCGA-19-5955-01A-11D-1696-08 TCGA-19-5955-11A-01D-1696-08 Untested Somatic Phase_I WXS none Illumina GAIIx c8abde95-f4d7-4d48-879b-bd584eaf8a25 cef2a217-c85e-4fb2-a319-d7a9a02417d4 g.chr7:50468241C>A uc003tow.4 + 7 1631 c.1476C>A c.(1474-1476)tgC>tgA p.C492* IKZF1_uc022acq.1_Nonsense_Mutation_p.C349*|IKZF1_uc003tpa.4_Nonsense_Mutation_p.C257*|IKZF1_uc022acr.1_Nonsense_Mutation_p.C267*|IKZF1_uc022acs.1_Nonsense_Mutation_p.C222*|IKZF1_uc022act.1_Nonsense_Mutation_p.C395*|IKZF1_uc022acu.1_Nonsense_Mutation_p.C405*|IKZF1_uc003tox.4_Nonsense_Mutation_p.C450*|IKZF1_uc022acv.1_Nonsense_Mutation_p.C353*|IKZF1_uc022acw.1_Nonsense_Mutation_p.C363*|IKZF1_uc022acx.1_Nonsense_Mutation_p.C405*|IKZF1_uc022acy.1_Nonsense_Mutation_p.C299*|IKZF1_uc022acz.1_Nonsense_Mutation_p.C309*|IKZF1_uc011kck.2_Nonsense_Mutation_p.C405*|IKZF1_uc003toy.4_Nonsense_Mutation_p.C450*|IKZF1_uc003toz.4_Nonsense_Mutation_p.C462*|IKZF1_uc010kyx.3_Nonsense_Mutation_p.C232* NM_006060 NP_006051 Q13422 IKZF1_HUMAN Homo sapiens IKAROS family zinc finger 1 (Ikaros) (IKZF1), transcript variant 1, mRNA. 492 cell cycle|chromatin modification|mesoderm development cytoplasm|nucleus zinc ion binding p.?(28) haematopoietic_and_lymphoid_tissue(275)|lung(1) 276 Glioma(55;0.08)|all_neural(89;0.245) Acute lymphoblastic leukemia(4;7.29e-10)|all_hematologic(4;4.8e-07) CTTTTGAGTGCAACATGTGCG 0.592 """D,T""" BCL6 """ALL, DLBCL""" BAIAP2L1 55971 broad.mit.edu 37 7 97944874 97944874 + Silent SNP T T C TCGA-19-5955-01A-11D-1696-08 TCGA-19-5955-11A-01D-1696-08 Untested Somatic Phase_I WXS none Illumina GAIIx c8abde95-f4d7-4d48-879b-bd584eaf8a25 cef2a217-c85e-4fb2-a319-d7a9a02417d4 g.chr7:97944874T>C uc003upj.3 - 6 800 c.537A>G c.(535-537)gcA>gcG p.A179A NM_018842 NP_061330 Q9UHR4 BI2L1_HUMAN Homo sapiens BAI1-associated protein 2-like 1 (BAIAP2L1), mRNA. 179 IMD. filopodium assembly|positive regulation of actin cytoskeleton reorganization|positive regulation of actin filament polymerization|response to bacterium|signal transduction cell junction|cytoskeleton|cytosol|nucleus actin binding|cytoskeletal adaptor activity|proline-rich region binding|SH3 domain binding NS(1)|breast(1)|cervix(1)|endometrium(3)|large_intestine(7)|lung(8)|ovary(1)|prostate(1) 23 all_cancers(62;4.34e-10)|all_epithelial(64;5e-10)|Esophageal squamous(72;0.00918)|Lung NSC(181;0.0113)|all_lung(186;0.0126) STAD - Stomach adenocarcinoma(171;0.215) TGCAACCATCTGCAATGAATT 0.358 CLDN15 24146 broad.mit.edu 37 7 100877603 100877603 + Missense_Mutation SNP T T C TCGA-19-5955-01A-11D-1696-08 TCGA-19-5955-11A-01D-1696-08 Untested Somatic Phase_I WXS none Illumina GAIIx c8abde95-f4d7-4d48-879b-bd584eaf8a25 cef2a217-c85e-4fb2-a319-d7a9a02417d4 g.chr7:100877603T>C uc003uyg.2 - 1 703 c.338A>G c.(337-339)aAa>aGa p.K113R CLDN15_uc003uyh.2_Missense_Mutation_p.K113R|CLDN15_uc003uyi.3_3'UTR|CLDN15_uc022aja.1_3'UTR NM_014343 NP_001172009 P56746 CLD15_HUMAN Homo sapiens claudin 15 (CLDN15), transcript variant 2, mRNA. 113 calcium-independent cell-cell adhesion|tight junction assembly integral to membrane|tight junction identical protein binding|structural molecule activity endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(1)|lung(3)|ovary(1)|skin(1) 10 Lung NSC(181;0.168)|all_lung(186;0.215) CAGCTTGGCTTTCCTGGAGAG 0.662 GRM8 2918 broad.mit.edu 37 7 126409978 126409978 + Missense_Mutation SNP C C T TCGA-19-5955-01A-11D-1696-08 TCGA-19-5955-11A-01D-1696-08 Untested Somatic Phase_I WXS none Illumina GAIIx c8abde95-f4d7-4d48-879b-bd584eaf8a25 cef2a217-c85e-4fb2-a319-d7a9a02417d4 g.chr7:126409978C>T uc003vlr.2 - 5 1609 c.1298G>A c.(1297-1299)cGa>cAa p.R433Q GRM8_uc003vls.2_Non-coding_Transcript|GRM8_uc011kof.1_Non-coding_Transcript|GRM8_uc003vlt.2_Missense_Mutation_p.R433Q|GRM8_uc010lkz.1_Non-coding_Transcript|GRM8_uc003vlu.1_Missense_Mutation_p.R154Q NM_000845 NP_000836 O00222 GRM8_HUMAN Homo sapiens glutamate receptor, metabotropic 8 (GRM8), transcript variant 1, mRNA. 433 negative regulation of cAMP biosynthetic process|sensory perception of smell|visual perception integral to plasma membrane breast(3)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(4)|large_intestine(16)|lung(62)|ovary(5)|pancreas(1)|prostate(1)|skin(14)|stomach(1)|upper_aerodigestive_tract(6)|urinary_tract(4) 125 Prostate(267;0.186) L-Glutamic Acid(DB00142) GGTACTCATTCGTGGACAAAG 0.403 HNSCC(24;0.065) STC1 6781 broad.mit.edu 37 8 23702306 23702306 + Missense_Mutation SNP G G A TCGA-19-5955-01A-11D-1696-08 TCGA-19-5955-11A-01D-1696-08 Untested Somatic Phase_I WXS none Illumina GAIIx c8abde95-f4d7-4d48-879b-bd584eaf8a25 cef2a217-c85e-4fb2-a319-d7a9a02417d4 g.chr8:23702306G>A uc003xdw.1 - 3 1005 c.721C>T c.(721-723)Cgc>Tgc p.R241C NM_003155 NP_003146 P52823 STC1_HUMAN Homo sapiens stanniocalcin 1 (STC1), mRNA. 241 cell surface receptor linked signaling pathway|cell-cell signaling|cellular calcium ion homeostasis hormone activity p.R241H(1) breast(1)|cervix(1)|endometrium(3)|large_intestine(4)|lung(9)|pancreas(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(1) 26 Prostate(55;0.055)|Breast(100;0.116) Colorectal(74;0.0155)|COAD - Colon adenocarcinoma(73;0.0632) TGGGATGTGCGTTTGATGTGG 0.507 EBF2 64641 broad.mit.edu 37 8 25718727 25718727 + Nonsense_Mutation SNP G G A TCGA-19-5955-01A-11D-1696-08 TCGA-19-5955-11A-01D-1696-08 Untested Somatic Phase_I WXS none Illumina GAIIx c8abde95-f4d7-4d48-879b-bd584eaf8a25 cef2a217-c85e-4fb2-a319-d7a9a02417d4 g.chr8:25718727G>A uc003xes.2 - 12 1445 c.1180C>T c.(1180-1182)Cga>Tga p.R394* DOCK5_uc003xek.3_Intron|EBF2_uc010lug.2_Non-coding_Transcript NM_022659 NP_073150 Q9HAK2 COE2_HUMAN Homo sapiens early B-cell factor 2 (EBF2), mRNA. 394 multicellular organismal development|regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|metal ion binding endometrium(3)|kidney(2)|large_intestine(3)|lung(22)|ovary(3)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(2) 39 all_cancers(63;0.0989)|Ovarian(32;2.74e-05)|all_epithelial(46;0.0608)|Prostate(55;0.0845) UCEC - Uterine corpus endometrioid carcinoma (27;0.0277)|Epithelial(17;3.29e-10)|Colorectal(74;0.00383)|COAD - Colon adenocarcinoma(73;0.00738) TCTGCGGCTCGCTTCAAAATG 0.488 LYN 4067 broad.mit.edu 37 8 56866431 56866431 + Silent SNP T T C TCGA-19-5955-01A-11D-1696-08 TCGA-19-5955-11A-01D-1696-08 Untested Somatic Phase_I WXS none Illumina GAIIx c8abde95-f4d7-4d48-879b-bd584eaf8a25 cef2a217-c85e-4fb2-a319-d7a9a02417d4 g.chr8:56866431T>C uc003xsk.4 + 7 960 c.678T>C c.(676-678)tgT>tgC p.C226C LYN_uc003xsl.4_Silent_p.C205C NM_002350 NP_002341 P07948 LYN_HUMAN Homo sapiens v-yes-1 Yamaguchi sarcoma viral related oncogene homolog (LYN), transcript variant 1, mRNA. 226 SH2. erythrocyte differentiation|interspecies interaction between organisms|leukocyte migration|platelet activation|positive regulation of cellular component movement|positive regulation of stress-activated protein kinase signaling cascade|positive regulation of tyrosine phosphorylation of STAT protein|response to DNA damage stimulus|T cell costimulation cytosol|Golgi apparatus|membrane raft|nucleus|perinuclear region of cytoplasm ATP binding|ion channel binding|non-membrane spanning protein tyrosine kinase activity|receptor signaling protein tyrosine kinase activity breast(4)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(8)|ovary(1)|upper_aerodigestive_tract(1) 22 all_lung(136;0.0555)|Lung NSC(129;0.0726)|all_epithelial(80;0.0772) Epithelial(17;0.000834)|all cancers(17;0.00598) AGAAGGCTTGTATTAGTCCCA 0.478 PRDM14 63978 broad.mit.edu 37 8 70980585 70980585 + Silent SNP T T C TCGA-19-5955-01A-11D-1696-08 TCGA-19-5955-11A-01D-1696-08 Untested Somatic Phase_I WXS none Illumina GAIIx c8abde95-f4d7-4d48-879b-bd584eaf8a25 cef2a217-c85e-4fb2-a319-d7a9a02417d4 g.chr8:70980585T>C uc003xym.3 - 3 994 c.792A>G c.(790-792)ccA>ccG p.P264P NM_024504 NP_078780 Q9GZV8 PRD14_HUMAN Homo sapiens PR domain containing 14 (PRDM14), mRNA. 264 SET. regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding NS(1)|endometrium(4)|kidney(4)|large_intestine(3)|lung(13)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 32 Breast(64;0.193) Epithelial(68;0.00508)|all cancers(69;0.0259)|OV - Ovarian serous cystadenocarcinoma(28;0.0405) CACCAAAATGTGGGACTTCAC 0.488 PABPC1 26986 broad.mit.edu 37 8 101730507 101730507 + Silent SNP C C T TCGA-19-5955-01A-11D-1696-08 TCGA-19-5955-11A-01D-1696-08 Untested Somatic Phase_I WXS none Illumina GAIIx c8abde95-f4d7-4d48-879b-bd584eaf8a25 cef2a217-c85e-4fb2-a319-d7a9a02417d4 g.chr8:101730507C>T uc003yjs.1 - 2 698 c.194_splice c.e2-1 p.A65_splice PABPC1_uc011lhc.1_Splice_Site_p.A65_splice|PABPC1_uc011lhd.1_Splice_Site_p.A20_splice|PABPC1_uc003yjt.1_Splice_Site_p.A65_splice|PABPC1_uc003yju.2_Splice_Site NM_002568 NP_002559 P11940 PABP1_HUMAN Homo sapiens poly(A) binding protein, cytoplasmic 1 (PABPC1), mRNA. 65 RRM 1. mRNA polyadenylation|mRNA stabilization|negative regulation of nuclear-transcribed mRNA catabolic process, nonsense-mediated decay|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay|nuclear-transcribed mRNA poly(A) tail shortening|translation catalytic step 2 spliceosome|cytosol nucleotide binding|poly(A) RNA binding|protein C-terminus binding|translation activator activity breast(2)|endometrium(4)|kidney(15)|large_intestine(4)|lung(13)|prostate(1)|skin(1) 40 all_cancers(14;6.8e-05)|all_epithelial(15;3.16e-07)|Lung NSC(17;0.000453)|all_lung(17;0.00125) Epithelial(11;6.37e-11)|all cancers(13;1.11e-08)|OV - Ovarian serous cystadenocarcinoma(57;3.91e-05)|STAD - Stomach adenocarcinoma(118;0.206) AAGCACGCTCCGCTGCAGGAA 0.433 RIMS2 9699 broad.mit.edu 37 8 104778688 104778688 + Silent SNP T T C TCGA-19-5955-01A-11D-1696-08 TCGA-19-5955-11A-01D-1696-08 Untested Somatic Phase_I WXS none Illumina GAIIx c8abde95-f4d7-4d48-879b-bd584eaf8a25 cef2a217-c85e-4fb2-a319-d7a9a02417d4 g.chr8:104778688T>C uc003ylp.3 + 2 760 c.621T>C c.(619-621)caT>caC p.H207H NM_001100117 NP_001093587 Q9UQ26 RIMS2_HUMAN Homo sapiens regulating synaptic membrane exocytosis 2 (RIMS2), transcript variant 1, mRNA. 238 intracellular protein transport cell junction|presynaptic membrane metal ion binding|Rab GTPase binding NS(1)|breast(4)|central_nervous_system(5)|endometrium(8)|haematopoietic_and_lymphoid_tissue(4)|kidney(2)|large_intestine(22)|liver(1)|lung(68)|ovary(6)|pancreas(2)|prostate(3)|skin(6)|stomach(1)|upper_aerodigestive_tract(10)|urinary_tract(1) 144 OV - Ovarian serous cystadenocarcinoma(57;7.7e-07)|STAD - Stomach adenocarcinoma(118;0.229) GTCGATCTCATGGGCTCACAA 0.443 HNSCC(12;0.0054) FREM1 158326 broad.mit.edu 37 9 14775892 14775892 + Silent SNP C C T TCGA-19-5955-01A-11D-1696-08 TCGA-19-5955-11A-01D-1696-08 Untested Somatic Phase_I WXS none Illumina GAIIx c8abde95-f4d7-4d48-879b-bd584eaf8a25 cef2a217-c85e-4fb2-a319-d7a9a02417d4 g.chr9:14775892C>T uc003zlm.3 - 25 5568 c.4752G>A c.(4750-4752)ggG>ggA p.G1584G FREM1_uc010mic.3_Intron|FREM1_uc003zlk.3_5'Flank|FREM1_uc003zll.3_Silent_p.G120G NM_144966 NP_659403 Q5H8C1 FREM1_HUMAN Homo sapiens FRAS1 related extracellular matrix 1 (FREM1), transcript variant 1, mRNA. 1584 cell communication|multicellular organismal development basement membrane|integral to membrane metal ion binding|sugar binding breast(3)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(23)|lung(40)|ovary(4)|pancreas(1)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1) 100 GBM - Glioblastoma multiforme(50;3.53e-06) TCTGGGAGTCCCCTCCTGAGT 0.512 RRAGA 10670 broad.mit.edu 37 9 19050342 19050342 + Missense_Mutation SNP G G A TCGA-19-5955-01A-11D-1696-08 TCGA-19-5955-11A-01D-1696-08 Untested Somatic Phase_I WXS none Illumina GAIIx c8abde95-f4d7-4d48-879b-bd584eaf8a25 cef2a217-c85e-4fb2-a319-d7a9a02417d4 g.chr9:19050342G>A uc003znj.3 + 0 971 c.685G>A c.(685-687)Gag>Aag p.E229K NM_006570 NP_006561 Q7L523 RRAGA_HUMAN Homo sapiens Ras-related GTP binding A (RRAGA), mRNA. 229 E -> G (in Ref. 2; AAB63255). apoptosis|cellular protein localization|cellular response to amino acid stimulus|positive regulation of cytolysis|positive regulation of TOR signaling cascade|virus-host interaction Golgi apparatus|lysosome|nucleus GTP binding|phosphoprotein binding|protein heterodimerization activity|protein homodimerization activity endometrium(1)|large_intestine(1)|lung(1) 3 CCACCGGTTTGAGAAGATCAG 0.473 TAF1L 138474 broad.mit.edu 37 9 32632340 32632340 + Missense_Mutation SNP G G A TCGA-19-5955-01A-11D-1696-08 TCGA-19-5955-11A-01D-1696-08 Untested Somatic Phase_I WXS none Illumina GAIIx c8abde95-f4d7-4d48-879b-bd584eaf8a25 cef2a217-c85e-4fb2-a319-d7a9a02417d4 g.chr9:32632340G>A uc003zrg.1 - 0 3328 c.3238C>T c.(3238-3240)Cgt>Tgt p.R1080C AX747113_uc003zrh.1_5'Flank NM_153809 NP_722516 Q8IZX4 TAF1L_HUMAN Homo sapiens TAF1 RNA polymerase II, TATA box binding protein (TBP)-associated factor, 210kDa-like (TAF1L), mRNA. 1080 male meiosis|positive regulation of transcription, DNA-dependent|regulation of transcription from RNA polymerase II promoter|transcription initiation, DNA-dependent transcription factor TFIID complex DNA binding|histone acetyltransferase activity|protein serine/threonine kinase activity|TBP-class protein binding p.R1080S(2)|p.R1080H(1) breast(6)|central_nervous_system(4)|endometrium(14)|kidney(11)|large_intestine(32)|liver(2)|lung(68)|ovary(2)|pancreas(2)|prostate(7)|skin(9)|stomach(1)|upper_aerodigestive_tract(1) 159 LUSC - Lung squamous cell carcinoma(29;0.0181) GBM - Glioblastoma multiforme(74;0.00301) TCTTTGTAACGCTCTTGATGC 0.473 FGD3 89846 broad.mit.edu 37 9 95738835 95738835 + Silent SNP C C T TCGA-19-5955-01A-11D-1696-08 TCGA-19-5955-11A-01D-1696-08 Untested Somatic Phase_I WXS none Illumina GAIIx c8abde95-f4d7-4d48-879b-bd584eaf8a25 cef2a217-c85e-4fb2-a319-d7a9a02417d4 g.chr9:95738835C>T uc004asz.2 + 2 825 c.297C>T c.(295-297)ggC>ggT p.G99G FGD3_uc004asw.2_Silent_p.G99G|FGD3_uc004asx.2_Silent_p.G99G NM_033086 NP_149077 Q5JSP0 FGD3_HUMAN Homo sapiens FYVE, RhoGEF and PH domain containing 3 (FGD3), transcript variant 2, mRNA. 99 actin cytoskeleton organization|apoptosis|filopodium assembly|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Cdc42 GTPase activity|regulation of cell shape|small GTPase mediated signal transduction cytoskeleton|cytosol|Golgi apparatus|lamellipodium|ruffle metal ion binding|Rho guanyl-nucleotide exchange factor activity|small GTPase binding breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(4)|ovary(2)|prostate(1)|urinary_tract(1) 17 TGGAGGCTGGCCCAAGCCCCA 0.657 ASTN2 23245 broad.mit.edu 37 9 119488220 119488220 + Missense_Mutation SNP T T C TCGA-19-5955-01A-11D-1696-08 TCGA-19-5955-11A-01D-1696-08 Untested Somatic Phase_I WXS none Illumina GAIIx c8abde95-f4d7-4d48-879b-bd584eaf8a25 cef2a217-c85e-4fb2-a319-d7a9a02417d4 g.chr9:119488220T>C uc004bjt.2 - 14 2584 c.2483A>G c.(2482-2484)aAt>aGt p.N828S ASTN2_uc022bml.1_Missense_Mutation_p.N524S|ASTN2_uc022bmm.1_Missense_Mutation_p.N528S NM_014010 NP_054729 O75129 ASTN2_HUMAN Homo sapiens astrotactin 2 (ASTN2), transcript variant 1, mRNA. 879 integral to membrane breast(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(21)|lung(45)|ovary(4)|pancreas(2)|prostate(2)|skin(9)|stomach(1)|urinary_tract(1) 102 CTTGAGAACATTAGTGAAGCC 0.542 FCN2 2220 broad.mit.edu 37 9 137777089 137777089 + Silent SNP G G A TCGA-19-5955-01A-11D-1696-08 TCGA-19-5955-11A-01D-1696-08 Untested Somatic Phase_I WXS none Illumina GAIIx c8abde95-f4d7-4d48-879b-bd584eaf8a25 cef2a217-c85e-4fb2-a319-d7a9a02417d4 g.chr9:137777089G>A uc004cfg.1 + 4 316 c.306G>A c.(304-306)ccG>ccA p.P102P FCN2_uc004cfh.1_Silent_p.P64P NM_004108 NP_004099 Q15485 FCN2_HUMAN Homo sapiens ficolin (collagen/fibrinogen domain containing lectin) 2 (hucolin) (FCN2), transcript variant SV0, mRNA. 102 Fibrinogen C-terminal. complement activation, lectin pathway|opsonization|signal transduction collagen|extracellular space antigen binding|calcium ion binding|calcium-dependent protein binding|receptor binding|sugar binding breast(2)|central_nervous_system(1)|large_intestine(4)|lung(8)|ovary(1)|prostate(2)|urinary_tract(2) 20 Myeloproliferative disorder(178;0.0333) OV - Ovarian serous cystadenocarcinoma(145;3.58e-08)|Epithelial(140;6.41e-08)|all cancers(34;3.96e-07) TCCCAGGCCCGCGTACCTGCA 0.662 PIM2 11040 broad.mit.edu 37 X 48771532 48771532 + Missense_Mutation SNP G G A TCGA-19-5955-01A-11D-1696-08 TCGA-19-5955-11A-01D-1696-08 Untested Somatic Phase_I WXS none Illumina GAIIx c8abde95-f4d7-4d48-879b-bd584eaf8a25 cef2a217-c85e-4fb2-a319-d7a9a02417d4 g.chrX:48771532G>A uc004dls.3 - 5 1114 c.812C>T c.(811-813)cCt>cTt p.P271L SLC35A2_uc004dlo.1_5'Flank|SLC35A2_uc011mml.1_5'Flank|SLC35A2_uc004dlp.1_5'Flank|SLC35A2_uc011mmm.1_5'Flank|SLC35A2_uc011mmn.1_5'Flank|SLC35A2_uc004dlq.3_5'Flank|SLC35A2_uc011mmo.1_5'Flank NM_006875 NP_006866 Q9P1W9 PIM2_HUMAN Homo sapiens pim-2 oncogene (PIM2), mRNA. 271 Protein kinase. anti-apoptosis|cell proliferation|male meiosis|positive regulation of autophagy|positive regulation of I-kappaB kinase/NF-kappaB cascade|response to virus ATP binding|protein serine/threonine kinase activity lung(3)|stomach(1) 4 TCGGGAAGAAGGTTTGGGGGC 0.602 ATP7A 538 broad.mit.edu 37 X 77243835 77243835 + Missense_Mutation SNP C C A TCGA-19-5955-01A-11D-1696-08 TCGA-19-5955-11A-01D-1696-08 Untested Somatic Phase_I WXS none Illumina GAIIx c8abde95-f4d7-4d48-879b-bd584eaf8a25 cef2a217-c85e-4fb2-a319-d7a9a02417d4 g.chrX:77243835C>A uc004ecx.4 + 2 378 c.218C>A c.(217-219)gCt>gAt p.A73D ATP7A_uc004ecw.2_Missense_Mutation_p.A73D NM_000052 NP_000043 Q04656 ATP7A_HUMAN Homo sapiens ATPase, Cu++ transporting, alpha polypeptide (ATP7A), mRNA. 73 HMA 1. ATP biosynthetic process|blood vessel development|blood vessel remodeling|cartilage development|cellular copper ion homeostasis|cerebellar Purkinje cell differentiation|collagen fibril organization|copper ion import|detoxification of copper ion|dopamine metabolic process|elastic fiber assembly|elastin biosynthetic process|epinephrine metabolic process|hair follicle morphogenesis|locomotory behavior|lung alveolus development|negative regulation of metalloenzyme activity|neuroprotection|peptidyl-lysine modification|pigmentation|positive regulation of metalloenzyme activity|positive regulation of oxidoreductase activity|pyramidal neuron development|regulation of oxidative phosphorylation|removal of superoxide radicals|serotonin metabolic process|skin development|T-helper cell differentiation|tryptophan metabolic process basolateral plasma membrane|cytosol|endoplasmic reticulum|integral to membrane|late endosome|neuron projection|neuronal cell body|perinuclear region of cytoplasm|trans-Golgi network|trans-Golgi network transport vesicle ATP binding|copper-dependent protein binding|copper-exporting ATPase activity|superoxide dismutase copper chaperone activity breast(4)|central_nervous_system(3)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(26)|pancreas(1)|prostate(1)|urinary_tract(1) 53 GGCTTTGATGCTGTTATCCAT 0.423 STAG2 10735 broad.mit.edu 37 X 123220476 123220476 + Nonsense_Mutation SNP C C T TCGA-19-5955-01A-11D-1696-08 TCGA-19-5955-11A-01D-1696-08 Untested Somatic Phase_I WXS none Illumina GAIIx c8abde95-f4d7-4d48-879b-bd584eaf8a25 cef2a217-c85e-4fb2-a319-d7a9a02417d4 g.chrX:123220476C>T uc004eua.3 + 29 3537 c.3133C>T c.(3133-3135)Cga>Tga p.R1045* STAG2_uc004etz.4_Nonsense_Mutation_p.R1045*|STAG2_uc004eub.3_Nonsense_Mutation_p.R1045*|STAG2_uc004euc.3_Nonsense_Mutation_p.R1045*|STAG2_uc004eud.3_Nonsense_Mutation_p.R1045*|STAG2_uc004eue.3_Nonsense_Mutation_p.R1045* NM_001042749 NP_001036215 Q8N3U4 STAG2_HUMAN Homo sapiens stromal antigen 2 (STAG2), transcript variant 1, mRNA. 1045 cell division|meiosis|mitotic metaphase/anaphase transition|mitotic prometaphase|negative regulation of DNA endoreduplication|sister chromatid cohesion chromatin|chromosome, centromeric region|nucleoplasm protein binding p.R1045*(2) breast(5)|central_nervous_system(4)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(5)|kidney(8)|large_intestine(9)|lung(21)|ovary(5)|prostate(2)|skin(5)|urinary_tract(4) 78 GATGTCTTACCGAAATTCTTT 0.433 L1CAM 3897 broad.mit.edu 37 X 153129351 153129351 + Silent SNP G G A TCGA-19-5955-01A-11D-1696-08 TCGA-19-5955-11A-01D-1696-08 Untested Somatic Phase_I WXS none Illumina GAIIx c8abde95-f4d7-4d48-879b-bd584eaf8a25 cef2a217-c85e-4fb2-a319-d7a9a02417d4 g.chrX:153129351G>A uc004fjb.3 - 24 3552 c.3444C>T c.(3442-3444)ggC>ggT p.G1148G L1CAM_uc004fjc.3_Silent_p.G1148G|L1CAM_uc010nuo.3_Silent_p.G1143G NM_000425 NP_000416 P32004 L1CAM_HUMAN Homo sapiens L1 cell adhesion molecule (L1CAM), transcript variant 1, mRNA. 1148 axon guidance|blood coagulation|cell death|leukocyte migration integral to membrane NS(1)|breast(4)|central_nervous_system(3)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(5)|liver(1)|lung(31)|ovary(13)|pancreas(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 81 all_cancers(53;6.72e-15)|all_epithelial(53;3.19e-09)|all_lung(58;3.39e-06)|all_hematologic(71;4.25e-06)|Lung NSC(58;4.7e-06)|Acute lymphoblastic leukemia(192;6.56e-05) AGTATTTGCCGCCCTTGCTGC 0.627 TSPY3 728137 broad.mit.edu 37 Y 9366667 9366672 + In_Frame_Del DEL GAAGAT GAAGAT - TCGA-19-5955-01A-11D-1696-08 TCGA-19-5955-11A-01D-1696-08 Untested Somatic Phase_I WXS none Illumina GAIIx c8abde95-f4d7-4d48-879b-bd584eaf8a25 cef2a217-c85e-4fb2-a319-d7a9a02417d4 g.chrY:9366667_9366672delGAAGAT uc004fse.3 + 2 809_814 c.526_531delGAAGAT c.(526-531)gaagatdel p.ED178del TSPY3_uc004fsf.3_In_Frame_Del_p.ED178del NM_001077697 NP_001071165 Q01534 TSPY1_HUMAN Homo sapiens testis specific protein, Y-linked 3 (TSPY3), mRNA. 178 cell differentiation|cell proliferation|gonadal mesoderm development|nucleosome assembly|spermatogenesis cytoplasm|nucleus identical protein binding GATCACTGACGAAGATGAAGACATGC 0.515