Hugo_Symbol Entrez_Gene_Id Center NCBI_Build Chromosome Start_position End_position Strand Variant_Classification Variant_Type Reference_Allele Tumor_Seq_Allele1 Tumor_Seq_Allele2 dbSNP_RS dbSNP_Val_Status Tumor_Sample_Barcode Matched_Norm_Sample_Barcode Match_Norm_Seq_Allele1 Match_Norm_Seq_Allele2 Tumor_Validation_Allele1 Tumor_Validation_Allele2 Match_Norm_Validation_Allele1 Match_Norm_Validation_Allele2 Verification_Status Validation_Status Mutation_Status Sequencing_Phase Sequence_Source Validation_Method Score BAM_file Sequencer Tumor_Sample_UUID Matched_Norm_Sample_UUID Genome_Change Annotation_Transcript Transcript_Strand Transcript_Exon Transcript_Position cDNA_Change Codon_Change Protein_Change Other_Transcripts Refseq_mRNA_Id Refseq_prot_Id SwissProt_acc_Id SwissProt_entry_Id Description UniProt_AApos UniProt_Region UniProt_Site UniProt_Natural_Variations UniProt_Experimental_Info GO_Biological_Process GO_Cellular_Component GO_Molecular_Function COSMIC_overlapping_mutations COSMIC_fusion_genes COSMIC_tissue_types_affected COSMIC_total_alterations_in_gene Tumorscape_Amplification_Peaks Tumorscape_Deletion_Peaks TCGAscape_Amplification_Peaks TCGAscape_Deletion_Peaks DrugBank ref_context gc_content CCLE_ONCOMAP_overlapping_mutations CCLE_ONCOMAP_total_mutations_in_gene CGC_Mutation_Type CGC_Translocation_Partner CGC_Tumor_Types_Somatic CGC_Tumor_Types_Germline CGC_Other_Diseases DNARepairGenes_Role FamilialCancerDatabase_Syndromes MUTSIG_Published_Results OREGANNO_ID OREGANNO_Values validation_method t_ref_count validation_status validation_tumor_sample t_alt_count validation_alt_allele pox qox pox_cutoff isArtifactMode oxoGCut ITGB6 3694 broad.mit.edu 37 2 160980358 160980359 + Missense_Mutation DNP CG AT AT rs61737767 TCGA-EE-A2MQ-06A-11D-A197-08 TCGA-EE-A2MQ-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0853f3bd-b4a0-4c59-8370-60a5bd58ba85 860a8640-e651-4e9d-b4f0-d1dd589628ce g.chr2:160980358_160980359CG>AT uc002ubh.2 - 11 1939_1940 c.1924_1925CG>AT c.(1924-1926)cga>ATa p.R642I ITGB6_uc010fou.2_Missense_Mutation_p.R642I|ITGB6_uc010zcq.1_Missense_Mutation_p.R600I|ITGB6_uc010fov.1_Missense_Mutation_p.R642I NM_000888 NP_000879 P18564 ITB6_HUMAN Homo sapiens integrin, beta 6 (ITGB6), mRNA. 642 cell-matrix adhesion|integrin-mediated signaling pathway|interspecies interaction between organisms|multicellular organismal development integrin complex receptor activity breast(1)|endometrium(1)|kidney(2)|large_intestine(8)|lung(7)|ovary(1)|pancreas(1)|prostate(1)|skin(1) 23 ACATTCTTCTCGGGCTTGGCCA 0.455000 119 5 0 0 6.4e-05 0 0 COPS7B 64708 broad.mit.edu 37 2 232672283 232672283 + Missense_Mutation SNP C T T TCGA-EE-A2MQ-06A-11D-A197-08 TCGA-EE-A2MQ-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0853f3bd-b4a0-4c59-8370-60a5bd58ba85 860a8640-e651-4e9d-b4f0-d1dd589628ce g.chr2:232672283C>T uc002vsh.1 + 7 879 c.776C>T c.(775-777)cCc>cTc p.P259L COPS7B_uc010fxy.1_Silent_p.P207P|COPS7B_uc002vsg.1_Silent_p.P241P|COPS7B_uc002vsi.1_Silent_p.P134P|COPS7B_uc002vsj.1_Non-coding_Transcript|COPS7B_uc002vsk.1_Silent_p.P134P Q9H9Q2 CSN7B_HUMAN Homo sapiens COP9 constitutive photomorphogenic homolog subunit 7B (Arabidopsis) (COPS7B), mRNA. 0 cullin deneddylation cytoplasm|signalosome large_intestine(1)|liver(1)|lung(4)|ovary(1)|skin(1) 8 all_hematologic(139;0.0123)|Acute lymphoblastic leukemia(138;0.0182)|Renal(207;0.025) Epithelial(121;1.36e-12)|BRCA - Breast invasive adenocarcinoma(100;0.00136)|LUSC - Lung squamous cell carcinoma(224;0.0115)|Lung(119;0.0142) GGGAGTGTCCCCCTCACGCTG 0.602000 4 8 0 0 0.000157383 0 0 ASTL 431705 broad.mit.edu 37 2 96799703 96799703 + Splice_Site SNP C T T TCGA-EE-A2MQ-06A-11D-A197-08 TCGA-EE-A2MQ-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0853f3bd-b4a0-4c59-8370-60a5bd58ba85 860a8640-e651-4e9d-b4f0-d1dd589628ce g.chr2:96799703C>T uc010yui.2 - 4 337 c.337_splice c.e4+1 p.D113_splice NM_001002036 NP_001002036 Q6HA08 ASTL_HUMAN Homo sapiens astacin-like metallo-endopeptidase (M12 family) (ASTL), mRNA. 113 proteolysis metalloendopeptidase activity|zinc ion binding endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|lung(13)|ovary(1)|prostate(1)|skin(2) 30 TGCTCACTCACCGTACTTGCT 0.582000 13 7 0 0 0.000157383 0 0 OVOL2 58495 broad.mit.edu 37 20 18022193 18022193 + Missense_Mutation SNP C T T TCGA-EE-A2MQ-06A-11D-A197-08 TCGA-EE-A2MQ-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0853f3bd-b4a0-4c59-8370-60a5bd58ba85 860a8640-e651-4e9d-b4f0-d1dd589628ce g.chr20:18022193C>T uc002wqi.1 - 2 739 c.496G>A c.(496-498)Gtc>Atc p.V166I NM_021220 NP_067043 Q9BRP0 OVOL2_HUMAN Homo sapiens ovo-like 2 (Drosophila) (OVOL2), mRNA. 166 negative regulation of Notch signaling pathway|negative regulation of keratinocyte differentiation|negative regulation of transcription by competitive promoter binding|regulation of cell cycle|regulation of keratinocyte proliferation|transcription, DNA-dependent nucleus DNA binding|transcription regulatory region DNA binding|zinc ion binding p.V166F(2) central_nervous_system(1)|endometrium(1)|large_intestine(1)|lung(3) 6 TGTGTGCGGACGTGCCTCTTC 0.532000 17 20 0 0 0.00188189 0 0 SLC22A12 116085 broad.mit.edu 37 11 64367882 64367882 + Silent SNP C T T rs61743169 byFrequency TCGA-EE-A2MQ-06A-11D-A197-08 TCGA-EE-A2MQ-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0853f3bd-b4a0-4c59-8370-60a5bd58ba85 860a8640-e651-4e9d-b4f0-d1dd589628ce g.chr11:64367882C>T uc001oam.1 + 7 2076 c.1329C>T c.(1327-1329)ggC>ggT p.G443G SLC22A12_uc001oal.1_Silent_p.G222G|SLC22A12_uc009yps.1_Silent_p.G409G|SLC22A12_uc001oan.1_Silent_p.G335G|SLC22A12_uc009ypt.3_Silent_p.G261G NM_144585 NP_700357 Q96S37 S22AC_HUMAN Homo sapiens solute carrier family 22 (organic anion/urate transporter), member 12 (SLC22A12), transcript variant 1, mRNA. 443 cellular homeostasis|response to drug|urate metabolic process apical plasma membrane|brush border membrane|integral to membrane PDZ domain binding|urate transmembrane transporter activity central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(2)|lung(9)|ovary(2)|prostate(2)|skin(4)|upper_aerodigestive_tract(1) 27 TGGGGCTGGGCGGGGTGGGGG 0.652000 19 7 0 0 0.000442599 0 0 PCDHGC5 56097 broad.mit.edu 37 5 140741694 140741694 + Silent SNP C T T TCGA-EE-A2MQ-06A-11D-A197-08 TCGA-EE-A2MQ-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0853f3bd-b4a0-4c59-8370-60a5bd58ba85 860a8640-e651-4e9d-b4f0-d1dd589628ce g.chr5:140741694C>T uc003ljs.2 + 0 1992 c.1992C>T c.(1990-1992)ttC>ttT p.F664F PCDHGC5_uc003lji.2_Intron|PCDHGC5_uc003ljk.2_Intron|PCDHGC5_uc003ljm.2_Intron|PCDHGC5_uc003ljo.2_Intron|PCDHGC5_uc003ljq.2_Intron|PCDHGC5_uc003lju.2_5'Flank|PCDHGC5_uc011dar.2_Silent_p.F664F|PCDHGC5_uc011das.2_5'Flank NM_018923 NP_061746 Q9Y5F6 PCDGM_HUMAN Homo sapiens protocadherin gamma subfamily B, 2 (PCDHGB2), transcript variant 1, mRNA. 666 Cadherin 6. homophilic cell adhesion integral to membrane|plasma membrane calcium ion binding breast(2)|central_nervous_system(2)|endometrium(6)|kidney(4)|large_intestine(4)|lung(10)|ovary(4)|prostate(1)|urinary_tract(2) 35 KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191) ACCTAATCTTCGCGGATAGCC 0.652000 6 19 0 0 0.000586117 0 0 FRA10AC1 118924 broad.mit.edu 37 10 95452438 95452438 + Silent SNP G A A TCGA-EE-A2MQ-06A-11D-A197-08 TCGA-EE-A2MQ-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0853f3bd-b4a0-4c59-8370-60a5bd58ba85 860a8640-e651-4e9d-b4f0-d1dd589628ce g.chr10:95452438G>A uc001kiz.2 - 5 543 c.345C>T c.(343-345)ttC>ttT p.F115F FRA10AC1_uc001kiv.2_Non-coding_Transcript|FRA10AC1_uc001kjb.1_Silent_p.F115F|FRA10AC1_uc009xuh.1_Silent_p.F116F NM_145246 NP_660289 Q70Z53 F10C1_HUMAN Homo sapiens fragile site, folic acid type, rare, fra(10)(q23.3) or fra(10)(q24.2) candidate 1 (FRA10AC1), mRNA. 115 nucleus protein binding NS(1)|endometrium(3)|kidney(2)|large_intestine(3)|lung(4)|urinary_tract(1) 14 CATTCCATAGGAATCTATGAT 0.358000 41 27 0 0 0.000339439 0 0 ACBD3 64746 broad.mit.edu 37 1 226349248 226349248 + Missense_Mutation SNP G A A TCGA-EE-A2MQ-06A-11D-A197-08 TCGA-EE-A2MQ-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0853f3bd-b4a0-4c59-8370-60a5bd58ba85 860a8640-e651-4e9d-b4f0-d1dd589628ce g.chr1:226349248G>A uc001hpy.3 - 3 759 c.712C>T c.(712-714)Cgg>Tgg p.R238W NM_022735 NP_073572 Q9H3P7 GCP60_HUMAN Homo sapiens acyl-CoA binding domain containing 3 (ACBD3), mRNA. 238 Arg-rich.|Glu-rich. steroid biosynthetic process|transport Golgi membrane|integral to membrane|mitochondrion fatty-acyl-CoA binding|protein binding p.R238W(2) breast(2)|endometrium(3)|large_intestine(5)|lung(7)|skin(1)|urinary_tract(2) 20 Breast(184;0.158) GBM - Glioblastoma multiforme(131;0.121) TGCTCCAACCGAAGcctttct 0.408000 32 34 0 0 0.00128727 0 0 CXorf38 159013 broad.mit.edu 37 X 40496279 40496279 + Missense_Mutation SNP C T T TCGA-EE-A2MQ-06A-11D-A197-08 TCGA-EE-A2MQ-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0853f3bd-b4a0-4c59-8370-60a5bd58ba85 860a8640-e651-4e9d-b4f0-d1dd589628ce g.chrX:40496279C>T uc004dew.3 - 3 648 c.601G>A c.(601-603)Gta>Ata p.V201I CXorf38_uc010nhd.3_Non-coding_Transcript|CXorf38_uc004dev.1_Missense_Mutation_p.V82I|CXorf38_uc011mko.2_Missense_Mutation_p.V116I NM_144970 NP_659407 Q8TB03 CX038_HUMAN Homo sapiens chromosome X open reading frame 38 (CXorf38), mRNA. 201 NS(1)|breast(1)|endometrium(2)|kidney(2)|large_intestine(1)|lung(3)|ovary(1)|urinary_tract(1) 12 CTGGAGTATACTGCCACAATC 0.358000 70 21 0 0 0.000295444 0 0 PCNXL2 80003 broad.mit.edu 37 1 233152877 233152877 + Silent SNP C T T TCGA-EE-A2MQ-06A-11D-A197-08 TCGA-EE-A2MQ-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0853f3bd-b4a0-4c59-8370-60a5bd58ba85 860a8640-e651-4e9d-b4f0-d1dd589628ce g.chr1:233152877C>T uc001hvl.2 - 26 4864 c.4629G>A c.(4627-4629)acG>acA p.T1543T PCNXL2_uc001hvk.1_Silent_p.T195T|PCNXL2_uc001hvm.1_Non-coding_Transcript NM_014801 NP_055616 A6NKB5 PCX2_HUMAN Homo sapiens pecanex-like 2 (Drosophila) (PCNXL2), transcript variant 1, mRNA. 1543 integral to membrane NS(1)|autonomic_ganglia(1)|breast(4)|central_nervous_system(1)|cervix(1)|endometrium(16)|kidney(7)|large_intestine(19)|lung(30)|pancreas(1)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1) 86 all_cancers(173;0.0347)|Prostate(94;0.137) GTTTGGGAGACGTTACCATAT 0.383000 83 14 0 0 0.00185496 0 0 STK40 83931 broad.mit.edu 37 1 36809729 36809729 + Silent SNP G A A TCGA-EE-A2MQ-06A-11D-A197-08 TCGA-EE-A2MQ-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0853f3bd-b4a0-4c59-8370-60a5bd58ba85 860a8640-e651-4e9d-b4f0-d1dd589628ce g.chr1:36809729G>A uc001cak.1 - 8 1283 c.876C>T c.(874-876)acC>acT p.T292T STK40_uc001cal.1_Silent_p.T297T|STK40_uc001cam.1_Silent_p.T292T|STK40_uc001can.1_Silent_p.T292T NM_032017 NP_114406 Q8N2I9 STK40_HUMAN Homo sapiens serine/threonine kinase 40 (STK40), mRNA. 292 Protein kinase. cytoplasm|nucleus ATP binding|protein serine/threonine kinase activity endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(3)|ovary(1)|skin(1)|stomach(1) 13 Myeloproliferative disorder(586;0.0393) ACTCAGGAATGGTATACTCGG 0.632000 12 27 0 0 0.00106085 0 0 UBQLNL 143630 broad.mit.edu 37 11 5537318 5537318 + Silent SNP C T T TCGA-EE-A2MQ-06A-11D-A197-08 TCGA-EE-A2MQ-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0853f3bd-b4a0-4c59-8370-60a5bd58ba85 860a8640-e651-4e9d-b4f0-d1dd589628ce g.chr11:5537318C>T uc001maz.4 - 0 639 c.354G>A c.(352-354)acG>acA p.T118T HBG1_uc001mak.1_Intron NM_145053 NP_659490 Q8IYU4 UBQLN_HUMAN Homo sapiens ubiquilin-like (UBQLNL), mRNA. 118 endometrium(1)|kidney(3)|large_intestine(9)|lung(13)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1) 33 Medulloblastoma(188;0.00225)|Breast(177;0.0155)|all_neural(188;0.0212) Epithelial(150;1.92e-09)|BRCA - Breast invasive adenocarcinoma(625;0.136) AGGGATCATTCGTTGGCAGGT 0.547000 37 29 0 0 0.000339439 0 0 LAMB1 3912 broad.mit.edu 37 7 107642205 107642205 + Missense_Mutation SNP G A A TCGA-EE-A2MQ-06A-11D-A197-08 TCGA-EE-A2MQ-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0853f3bd-b4a0-4c59-8370-60a5bd58ba85 860a8640-e651-4e9d-b4f0-d1dd589628ce g.chr7:107642205G>A uc003vev.2 - 0 244 c.83C>T c.(82-84)cCa>cTa p.P28L LAMB1_uc003vew.2_Intron|LAMB1_uc003vex.3_Intron|LAMB1_uc010ljn.1_Intron|U3_uc022ajz.1_5'Flank NM_002291 NP_002282 P07942 LAMB1_HUMAN Homo sapiens laminin, beta 1 (LAMB1), mRNA. 0 axon guidance|odontogenesis|positive regulation of cell migration|positive regulation of epithelial cell proliferation|substrate adhesion-dependent cell spreading extracellular space|laminin-1 complex|laminin-10 complex|laminin-2 complex|laminin-8 complex|perinuclear region of cytoplasm extracellular matrix structural constituent p.S27R(1) NS(3)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(4)|large_intestine(11)|lung(37)|ovary(6)|prostate(5)|skin(5)|upper_aerodigestive_tract(3) 82 Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Tenecteplase(DB00031) CAACAGAGTTGGGGGGACACA 0.617000 21 5 0 0 0.000602214 0 0 VRTN 55237 broad.mit.edu 37 14 74824954 74824954 + Missense_Mutation SNP G A A TCGA-EE-A2MQ-06A-11D-A197-08 TCGA-EE-A2MQ-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0853f3bd-b4a0-4c59-8370-60a5bd58ba85 860a8640-e651-4e9d-b4f0-d1dd589628ce g.chr14:74824954G>A uc021rwl.1 + 0 1468 c.1468G>A c.(1468-1470)Gac>Aac p.D490N VRTN_uc001xpw.4_Missense_Mutation_p.D490N NM_018228 NP_060698 Q9H8Y1 VRTN_HUMAN Homo sapiens vertebrae development homolog (pig) (VRTN), mRNA. 490 transposition, DNA-mediated DNA binding|transposase activity p.D490D(1) NS(1)|autonomic_ganglia(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(10)|lung(15)|ovary(5)|prostate(2)|skin(1)|urinary_tract(1) 41 CACAGGTGAGGACCCTCCCGC 0.662000 16 59 0 0 0.000781405 0 0 PADI4 23569 broad.mit.edu 37 1 17657550 17657550 + Missense_Mutation SNP A C C TCGA-EE-A2MQ-06A-11D-A197-08 TCGA-EE-A2MQ-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0853f3bd-b4a0-4c59-8370-60a5bd58ba85 860a8640-e651-4e9d-b4f0-d1dd589628ce g.chr1:17657550A>C uc001baj.2 + 1 207 c.179A>C c.(178-180)aAg>aCg p.K60T PADI4_uc009vpc.2_Missense_Mutation_p.K60T NM_012387 NP_036519 Q9UM07 PADI4_HUMAN Homo sapiens peptidyl arginine deiminase, type IV (PADI4), mRNA. 60 chromatin modification|peptidyl-citrulline biosynthetic process from peptidyl-arginine|regulation of transcription, DNA-dependent|transcription, DNA-dependent cytoplasm|nucleus calcium ion binding|protein-arginine deiminase activity autonomic_ganglia(1)|breast(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(13)|ovary(2)|skin(2)|urinary_tract(3) 26 Colorectal(325;3.46e-05)|Breast(348;0.000162)|all_lung(284;0.000338)|Lung NSC(340;0.00042)|Renal(390;0.000518)|Ovarian(437;0.00409)|Myeloproliferative disorder(586;0.0255) UCEC - Uterine corpus endometrioid carcinoma (279;0.00537)|BRCA - Breast invasive adenocarcinoma(304;8.54e-06)|COAD - Colon adenocarcinoma(227;1.33e-05)|Kidney(64;0.000223)|KIRC - Kidney renal clear cell carcinoma(64;0.00313)|STAD - Stomach adenocarcinoma(196;0.00707)|READ - Rectum adenocarcinoma(331;0.0689)|Lung(427;0.199) L-Citrulline(DB00155) CCAGCCAAGAAGAAATCCACA 0.602000 66 7 0 0 0.000157383 0 0 BCAT1 586 broad.mit.edu 37 12 24985744 24985744 + Silent SNP G A A TCGA-EE-A2MQ-06A-11D-A197-08 TCGA-EE-A2MQ-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0853f3bd-b4a0-4c59-8370-60a5bd58ba85 860a8640-e651-4e9d-b4f0-d1dd589628ce g.chr12:24985744G>A uc001rgd.4 - 8 1484 c.957C>T c.(955-957)gcC>gcT p.A319A BCAT1_uc001rgc.3_Silent_p.A318A|BCAT1_uc010six.2_Silent_p.A331A|BCAT1_uc010siy.2_Silent_p.A282A|BCAT1_uc001rge.4_Silent_p.A258A NM_005504 NP_005495 P54687 BCAT1_HUMAN Homo sapiens branched chain amino-acid transaminase 1, cytosolic (BCAT1), transcript variant 1, mRNA. 319 G1/S transition of mitotic cell cycle|branched chain family amino acid biosynthetic process|branched chain family amino acid catabolic process|cell proliferation cytosol L-isoleucine transaminase activity|L-leucine transaminase activity|L-valine transaminase activity breast(1)|large_intestine(1)|lung(3)|prostate(2) 7 Acute lymphoblastic leukemia(6;0.00112)|all_hematologic(7;0.00152)|Ovarian(17;0.107)|Colorectal(261;0.196) Gabapentin(DB00996)|L-Glutamic Acid(DB00142)|L-Isoleucine(DB00167)|L-Leucine(DB00149)|L-Valine(DB00161)|Pyridoxal Phosphate(DB00114) TCCCCTCCAGGGCTGTTGTCA 0.423000 5 7 0 0 8.12818e-05 0 0 TMC7 79905 broad.mit.edu 37 16 19070812 19070812 + Missense_Mutation SNP C T T TCGA-EE-A2MQ-06A-11D-A197-08 TCGA-EE-A2MQ-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0853f3bd-b4a0-4c59-8370-60a5bd58ba85 860a8640-e651-4e9d-b4f0-d1dd589628ce g.chr16:19070812C>T uc002dfp.2 + 14 2232 c.2102C>T c.(2101-2103)tCc>tTc p.S701F TMC7_uc002dfq.3_Missense_Mutation_p.S701F|TMC7_uc010vap.2_Missense_Mutation_p.S591F NM_024847 NP_079123 Q7Z402 TMC7_HUMAN Homo sapiens transmembrane channel-like 7 (TMC7), transcript variant 1, mRNA. 701 integral to membrane breast(2)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(12)|ovary(1)|prostate(1)|skin(4)|urinary_tract(1) 28 GAGCAGCTATCCCTGGTAAGG 0.512000 92 53 0 0 0.000781405 0 0 VPS13C 54832 broad.mit.edu 37 15 62208096 62208096 + Silent SNP G A A TCGA-EE-A2MQ-06A-11D-A197-08 TCGA-EE-A2MQ-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0853f3bd-b4a0-4c59-8370-60a5bd58ba85 860a8640-e651-4e9d-b4f0-d1dd589628ce g.chr15:62208096G>A uc002agz.3 - 60 8272 c.8181C>T c.(8179-8181)ttC>ttT p.F2727F VPS13C_uc002aha.3_Silent_p.F2684F|VPS13C_uc002ahb.2_Silent_p.F2727F|VPS13C_uc002ahc.2_Silent_p.F2684F|VPS13C_uc002ahd.1_Silent_p.F104F NM_020821 NP_065872 Q709C8 VP13C_HUMAN Homo sapiens vacuolar protein sorting 13 homolog C (S. cerevisiae) (VPS13C), transcript variant 2A, mRNA. 2727 protein localization NS(3)|breast(4)|endometrium(4)|kidney(9)|large_intestine(26)|lung(46)|ovary(5)|prostate(6)|skin(6)|stomach(5)|upper_aerodigestive_tract(2)|urinary_tract(1) 117 CACGTATGCGGAAATGTCCAT 0.448000 34 18 0 0 0.00152264 0 0 TTN 7273 broad.mit.edu 37 2 179417368 179417368 + Missense_Mutation SNP C T T TCGA-EE-A2MQ-06A-11D-A197-08 TCGA-EE-A2MQ-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0853f3bd-b4a0-4c59-8370-60a5bd58ba85 860a8640-e651-4e9d-b4f0-d1dd589628ce g.chr2:179417368C>T uc021vsy.1 - 283 82780 c.82555G>A c.(82555-82557)Gaa>Aaa p.E27519K MIR548N_uc021vsx.1_Intron|LOC100506866_uc002umo.3_Intron|LOC100506866_uc002ump.2_Intron|TTN_uc021vsz.1_Missense_Mutation_p.E21214K|TTN_uc021vta.1_Missense_Mutation_p.E21147K|TTN_uc021vtb.1_Missense_Mutation_p.E21022K NM_133378 NP_596869 Q8WZ42 TITIN_HUMAN Homo sapiens titin (TTN), transcript variant N2-A, mRNA. 28446 Fibronectin type-III 100. 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) ACCTCAATTTCACATGTCTTA 0.448000 36 29 0 0 0.000339439 0 0 CYP2C8 1558 broad.mit.edu 37 10 96824691 96824691 + Silent SNP G A A rs150790274 byFrequency TCGA-EE-A2MQ-06A-11D-A197-08 TCGA-EE-A2MQ-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0853f3bd-b4a0-4c59-8370-60a5bd58ba85 860a8640-e651-4e9d-b4f0-d1dd589628ce g.chr10:96824691G>A uc001kkb.3 - 3 603 c.508C>T c.(508-510)Ctg>Ttg p.L170L CYP2C8_uc010qoa.2_Silent_p.L100L|CYP2C8_uc010qoc.2_Silent_p.L68L|CYP2C8_uc001kkc.3_Non-coding_Transcript|CYP2C8_uc010qob.2_Silent_p.L84L|CYP2C8_uc021pwl.1_Silent_p.L100L|CYP2C8_uc010qod.1_Silent_p.L84L NM_000770 NP_000761 P10632 CP2C8_HUMAN Homo sapiens cytochrome P450, family 2, subfamily C, polypeptide 8 (CYP2C8), transcript variant 1, mRNA. 170 exogenous drug catabolic process|organic acid metabolic process|oxidative demethylation|xenobiotic metabolic process endoplasmic reticulum membrane|microsome aromatase activity|caffeine oxidase activity|electron carrier activity|heme binding|oxygen binding breast(1)|endometrium(3)|kidney(3)|large_intestine(5)|lung(6)|skin(3) 21 Colorectal(252;0.0397) all cancers(201;6.21e-05) Aminophenazone(DB01424)|Amiodarone(DB01118)|Amodiaquine(DB00613)|Benzphetamine(DB00865)|Carbamazepine(DB00564)|Cerivastatin(DB00439)|Diclofenac(DB00586)|Fluvastatin(DB01095)|Fosphenytoin(DB01320)|Gemfibrozil(DB01241)|Ketoconazole(DB01026)|Lapatinib(DB01259)|Lovastatin(DB00227)|Midazolam(DB00683)|Montelukast(DB00471)|Nicardipine(DB00622)|Paclitaxel(DB01229)|Phenytoin(DB00252)|Pioglitazone(DB01132)|Repaglinide(DB00912)|Rifampin(DB01045)|Rosiglitazone(DB00412)|Simvastatin(DB00641)|Sitagliptin(DB01261)|Tolbutamide(DB01124)|Torasemide(DB00214)|Tretinoin(DB00755)|Trimethoprim(DB00440)|Warfarin(DB00682)|Zafirlukast(DB00549)|Zopiclone(DB01198) GCACAGCCCAGGATGAAAGTG 0.308000 60 35 0 0 0.00195071 0 0 HTR2B 3357 broad.mit.edu 37 2 231973408 231973408 + Silent SNP C T T TCGA-EE-A2MQ-06A-11D-A197-08 TCGA-EE-A2MQ-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0853f3bd-b4a0-4c59-8370-60a5bd58ba85 860a8640-e651-4e9d-b4f0-d1dd589628ce g.chr2:231973408C>T uc002vro.3 - 3 1774 c.1269G>A c.(1267-1269)gaG>gaA p.E423E PSMD1_uc002vrn.2_Intron|PSMD1_uc002vrm.2_Intron|PSMD1_uc010fxu.2_Intron|HTR2B_uc010fxv.3_Silent_p.E356E NM_000867 NP_000858 P41595 5HT2B_HUMAN Homo sapiens 5-hydroxytryptamine (serotonin) receptor 2B (HTR2B), mRNA. 423 ERK1 and ERK2 cascade|G-protein coupled receptor internalization|activation of protein kinase C activity by G-protein coupled receptor protein signaling pathway|cGMP biosynthetic process|calcium-mediated signaling|cardiac muscle hypertrophy|cellular response to calcium ion|cellular response to temperature stimulus|embryonic morphogenesis|heart morphogenesis|intestine smooth muscle contraction|negative regulation of apoptosis|negative regulation of autophagy|neural crest cell migration|phosphatidylinositol 3-kinase cascade|phosphatidylinositol biosynthetic process|phosphorylation|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of MAP kinase activity|positive regulation of cell division|positive regulation of cytokine production|positive regulation of cytokine secretion|positive regulation of endothelial cell proliferation|positive regulation of nitric-oxide synthase activity|protein kinase C signaling cascade|regulation of behavior|release of sequestered calcium ion into cytosol|response to drug|vasoconstriction cytoplasm|integral to membrane|plasma membrane G-protein alpha-subunit binding|Ras GTPase activator activity|calcium channel activity|drug binding|phosphatidylinositol phospholipase C activity|serotonin binding|serotonin receptor activity breast(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(6)|urinary_tract(1) 11 Renal(207;0.025)|all_hematologic(139;0.094)|Acute lymphoblastic leukemia(138;0.164)|Medulloblastoma(418;0.232) Epithelial(121;4.48e-11)|LUSC - Lung squamous cell carcinoma(224;0.0115)|Lung(119;0.0141) Chlorprothixene(DB01239)|Eletriptan(DB00216)|Fenfluramine(DB00574)|Methotrimeprazine(DB01403)|Minaprine(DB00805)|Quetiapine(DB01224)|Sumatriptan(DB00669)|Tegaserod(DB01079)|Triflupromazine(DB00508) ACTTAGAGTTCTCTGCCATTG 0.433000 41 23 0 0 0.000295444 0 0 ATOH1 474 broad.mit.edu 37 4 94751094 94751094 + Silent SNP G A A TCGA-EE-A2MQ-06A-11D-A197-08 TCGA-EE-A2MQ-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0853f3bd-b4a0-4c59-8370-60a5bd58ba85 860a8640-e651-4e9d-b4f0-d1dd589628ce g.chr4:94751094G>A uc003hta.1 + 0 1017 c.1017G>A c.(1015-1017)ggG>ggA p.G339G NM_005172 NP_005163 Q92858 ATOH1_HUMAN Homo sapiens atonal homolog 1 (Drosophila) (ATOH1), mRNA. 339 transcription from RNA polymerase II promoter nucleus sequence-specific DNA binding transcription factor activity breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(2)|lung(2)|skin(1)|upper_aerodigestive_tract(1) 11 Hepatocellular(203;0.114) OV - Ovarian serous cystadenocarcinoma(123;3.57e-07) GAAGCGACGGGGAATTTTCCC 0.517000 12 33 0 0 0.000814825 0 0 TM4SF4 7104 broad.mit.edu 37 3 149193692 149193692 + Missense_Mutation SNP G A A TCGA-EE-A2MQ-06A-11D-A197-08 TCGA-EE-A2MQ-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0853f3bd-b4a0-4c59-8370-60a5bd58ba85 860a8640-e651-4e9d-b4f0-d1dd589628ce g.chr3:149193692G>A uc003exd.2 + 1 554 c.257G>A c.(256-258)cGa>cAa p.R86Q NM_004617 NP_004608 P48230 T4S4_HUMAN Homo sapiens transmembrane 4 L six family member 4 (TM4SF4), mRNA. 86 integral to membrane large_intestine(3)|lung(4)|ovary(1)|prostate(1) 9 LUSC - Lung squamous cell carcinoma(72;0.0378)|Lung(72;0.048) TGTGGGAAGCGATTTGCGGTG 0.552000 6 9 0 0 0.000978159 0 0 PAPD5 64282 broad.mit.edu 37 16 50259099 50259099 + Missense_Mutation SNP G A A TCGA-EE-A2MQ-06A-11D-A197-08 TCGA-EE-A2MQ-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0853f3bd-b4a0-4c59-8370-60a5bd58ba85 860a8640-e651-4e9d-b4f0-d1dd589628ce g.chr16:50259099G>A uc010vgo.2 + 10 1693 c.1658G>A c.(1657-1659)aGa>aAa p.R553K PAPD5_uc002efz.3_Intron|PAPD5_uc010cbi.2_Non-coding_Transcript NM_001040284 NP_001035374 Q8NDF8 PAPD5_HUMAN Homo sapiens PAP associated domain containing 5 (PAPD5), transcript variant 1, mRNA. 443 DNA replication|cell division|histone mRNA catabolic process|mitosis cytoplasm|nucleus DNA binding|DNA-directed DNA polymerase activity|metal ion binding endometrium(1)|kidney(1)|lung(2) 4 all_cancers(37;0.0452) BRCA - Breast invasive adenocarcinoma(181;0.0843)|GBM - Glioblastoma multiforme(240;0.231) GGAAAATGTAGAAGTAAAACC 0.383000 28 12 0 0 0.000978159 0 0 ECT2L 345930 broad.mit.edu 37 6 139159581 139159581 + Missense_Mutation SNP C T T rs116211453 by1000genomes TCGA-EE-A2MQ-06A-11D-A197-08 TCGA-EE-A2MQ-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0853f3bd-b4a0-4c59-8370-60a5bd58ba85 860a8640-e651-4e9d-b4f0-d1dd589628ce g.chr6:139159581C>T uc003qif.2 + 4 597 c.272C>T c.(271-273)tCc>tTc p.S91F ECT2L_uc021zfx.1_Missense_Mutation_p.S91F|ECT2L_uc011edq.1_Missense_Mutation_p.S22F NM_001077706 NP_001181966 Q008S8 ECT2L_HUMAN Homo sapiens epithelial cell transforming sequence 2 oncogene-like (ECT2L), transcript variant 1, mRNA. 91 F-box. regulation of Rho protein signal transduction intracellular Rho guanyl-nucleotide exchange factor activity breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(7)|lung(12)|skin(1)|upper_aerodigestive_tract(1) 30 TATATCTTTTCCTTTTTGAGT 0.423000 """N, Splice, Mis""" ETP ALL 35 16 0 0 0.000566183 0 0 SMARCD3 6604 broad.mit.edu 37 7 150945580 150945580 + Silent SNP G A A TCGA-EE-A2MQ-06A-11D-A197-08 TCGA-EE-A2MQ-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0853f3bd-b4a0-4c59-8370-60a5bd58ba85 860a8640-e651-4e9d-b4f0-d1dd589628ce g.chr7:150945580G>A uc003wjs.3 - 0 170 c.69C>T c.(67-69)gtC>gtT p.V23V SMARCD3_uc003wjt.3_Intron|SMARCD3_uc003wju.3_Intron|SMARCD3_uc011kvh.1_Silent_p.V23V|SMARCD3_uc010lqa.1_Silent_p.V23V NM_001003801 NP_001003801 Q6STE5 SMRD3_HUMAN Homo sapiens SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily d, member 3 (SMARCD3), transcript variant 3, mRNA. 23 cellular lipid metabolic process|chromatin modification|nervous system development|positive regulation of transcription, DNA-dependent|regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent SWI/SNF complex|nBAF complex|npBAF complex|nucleoplasm nuclear hormone receptor binding|protein binding|transcription coactivator activity|transcription factor binding haematopoietic_and_lymphoid_tissue(1)|large_intestine(6)|lung(6)|ovary(2) 15 OV - Ovarian serous cystadenocarcinoma(82;0.00448) UCEC - Uterine corpus endometrioid carcinoma (81;0.168) CCACCCCATGGACCAGAAACT 0.657000 53 56 0 0 0.000781405 0 0 ZDHHC17 23390 broad.mit.edu 37 12 77203529 77203529 + Silent SNP A G G TCGA-EE-A2MQ-06A-11D-A197-08 TCGA-EE-A2MQ-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0853f3bd-b4a0-4c59-8370-60a5bd58ba85 860a8640-e651-4e9d-b4f0-d1dd589628ce g.chr12:77203529A>G uc001syk.1 + 4 598 c.435A>G c.(433-435)aaA>aaG p.K145K ZDHHC17_uc001syi.1_Non-coding_Transcript|ZDHHC17_uc001syj.2_Non-coding_Transcript NM_015336 NP_056151 Q8IUH5 ZDH17_HUMAN Homo sapiens zinc finger, DHHC-type containing 17 (ZDHHC17), mRNA. 145 lipoprotein transport|positive regulation of I-kappaB kinase/NF-kappaB cascade Golgi-associated vesicle membrane|integral to membrane magnesium ion transmembrane transporter activity|protein binding|protein-cysteine S-palmitoleyltransferase activity|signal transducer activity|zinc ion binding breast(2)|endometrium(2)|large_intestine(3)|liver(2)|lung(14) 23 AACTAATGAAATATGGTGCAG 0.368000 9 8 0 0 0.000673444 0 0 TTN 7273 broad.mit.edu 37 2 179598041 179598041 + Missense_Mutation SNP C T T TCGA-EE-A2MQ-06A-11D-A197-08 TCGA-EE-A2MQ-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0853f3bd-b4a0-4c59-8370-60a5bd58ba85 860a8640-e651-4e9d-b4f0-d1dd589628ce g.chr2:179598041C>T uc021vsy.1 - 50 12472 c.12247G>A c.(12247-12249)Gac>Aac p.D4083N TTN_uc021vsz.1_Intron|TTN_uc021vta.1_Intron|TTN_uc021vtb.1_Intron|TTN_uc002umz.1_Missense_Mutation_p.D744N NM_133378 NP_596869 Q8WZ42 TITIN_HUMAN Homo sapiens titin (TTN), transcript variant N2-A, mRNA. 5010 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) TGGCCACTGTCGTGCAGCTCA 0.398000 60 42 0 0 0.000437636 0 0 OR5M9 390162 broad.mit.edu 37 11 56230020 56230020 + Missense_Mutation SNP C T T TCGA-EE-A2MQ-06A-11D-A197-08 TCGA-EE-A2MQ-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0853f3bd-b4a0-4c59-8370-60a5bd58ba85 860a8640-e651-4e9d-b4f0-d1dd589628ce g.chr11:56230020C>T uc010rjj.2 - 0 858 c.858G>A c.(856-858)atG>atA p.M286I OR8U8_uc001nit.2_Intron NM_001004743 NP_001004743 Q8NGP3 OR5M9_HUMAN Homo sapiens olfactory receptor, family 5, subfamily M, member 9 (OR5M9), mRNA. 286 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity p.M286I(2)|p.P285H(1) breast(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(17)|ovary(1)|prostate(1)|skin(4)|urinary_tract(2) 36 Esophageal squamous(21;0.00448) GACTGTAGATCATGGGATTCA 0.423000 46 27 0 0 0.000720815 0 0 PALLD 23022 broad.mit.edu 37 4 169846138 169846138 + Missense_Mutation SNP G T T TCGA-EE-A2MQ-06A-11D-A197-08 TCGA-EE-A2MQ-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0853f3bd-b4a0-4c59-8370-60a5bd58ba85 860a8640-e651-4e9d-b4f0-d1dd589628ce g.chr4:169846138G>T uc011cjx.2 + 19 3478 c.3267G>T c.(3265-3267)caG>caT p.Q1089H CBR4_uc011cjy.2_Intron|PALLD_uc003iru.3_Missense_Mutation_p.Q1072H|PALLD_uc003irv.3_Missense_Mutation_p.Q690H|PALLD_uc003irw.3_Missense_Mutation_p.Q585H|PALLD_uc003irx.3_Missense_Mutation_p.Q298H NM_001166108 NP_001159580 Q8WX93 PALLD_HUMAN Homo sapiens palladin, cytoskeletal associated protein (PALLD), transcript variant 1, mRNA. 1296 cytoskeleton organization actin filament|focal adhesion|lamellipodium|nucleus|ruffle|sarcomere actin binding|muscle alpha-actinin binding breast(4)|cervix(1)|endometrium(3)|kidney(4)|large_intestine(6)|liver(2)|lung(18)|ovary(3)|prostate(3)|skin(4) 48 Prostate(90;0.00996)|Renal(120;0.0203)|Melanoma(52;0.144) GBM - Glioblastoma multiforme(119;0.204) TGCTCATTCAGGGAGCCACAA 0.473000 Pancreatic Cancer, Familial Clustering of 10 38 5.71845e-15 5.07989e-14 0.00111076 1 0 NBPF10 100132406 broad.mit.edu 37 1 145367739 145367739 + Silent SNP A G G rs146714035 by1000genomes TCGA-EE-A2MQ-06A-11D-A197-08 TCGA-EE-A2MQ-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0853f3bd-b4a0-4c59-8370-60a5bd58ba85 860a8640-e651-4e9d-b4f0-d1dd589628ce g.chr1:145367739A>G uc021oul.1 + 82 10370 c.10335A>G c.(10333-10335)aaA>aaG p.K3445K NBPF10_uc010oye.2_Intron|NBPF10_uc010oyi.2_Intron|NBPF10_uc010oyj.2_Intron|NBPF10_uc010oyl.2_Intron NM_001039703 NP_001034792 A6NDV3 A6NDV3_HUMAN Homo sapiens neuroblastoma breakpoint family, member 10 (NBPF10), mRNA. 3445 p.K3445K(8) NS(3)|breast(1)|central_nervous_system(3)|endometrium(12)|kidney(23)|lung(15)|ovary(1)|prostate(7)|skin(6)|urinary_tract(2) 73 all_hematologic(923;0.032) Colorectal(1306;1.36e-07)|KIRC - Kidney renal clear cell carcinoma(1967;0.00258) ggaaggggaaaaaaagaaggg 0.413000 94 5 0 0 0.000602214 0 0 TP53 7157 broad.mit.edu 37 17 7579310 7579310 + Splice_Site SNP A G G rs68140816 TCGA-EE-A2MQ-06A-11D-A197-08 TCGA-EE-A2MQ-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0853f3bd-b4a0-4c59-8370-60a5bd58ba85 860a8640-e651-4e9d-b4f0-d1dd589628ce g.chr17:7579310A>G uc002gim.2 - 4 569 c.375_splice c.e4+1 p.T125_splice TP53_uc002gig.1_Splice_Site_p.T125_splice|TP53_uc002gih.3_Splice_Site_p.T125_splice|TP53_uc010cne.1_5'Flank|TP53_uc010cng.1_5'Flank|TP53_uc010cnf.1_5'Flank|TP53_uc002gii.1_5'Flank|TP53_uc010cni.1_Splice_Site_p.T125_splice|TP53_uc010cnh.1_Splice_Site_p.T125_splice|TP53_uc002gij.2_Splice_Site_p.T125_splice|TP53_uc010cnj.1_5'Flank|TP53_uc002gin.2_Intron|TP53_uc002gio.2_Intron|TP53_uc010vug.2_Splice_Site_p.T86_splice NM_001126112 NP_001119587 P04637 P53_HUMAN Homo sapiens tumor protein p53 (TP53), transcript variant 2, mRNA. 125 Interaction with AXIN1 (By similarity).|Interaction with HIPK1 (By similarity).|Required for interaction with FBXO42. T -> A (in a sporadic cancer; somatic mutation).|T -> K (in sporadic cancers; somatic mutation).|T -> M (in sporadic cancers; somatic mutation).|T -> P (in a sporadic cancer; somatic mutation).|T -> R (in sporadic cancers; somatic mutation). DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|ER overload response|Ras protein signal transduction|activation of caspase activity by cytochrome c|base-excision repair|blood coagulation|cell cycle arrest|cell differentiation|cell proliferation|cellular protein localization|cellular response to UV|cellular response to drug|cellular response to glucose starvation|cellular response to hypoxia|cellular response to ionizing radiation|determination of adult lifespan|interspecies interaction between organisms|negative regulation of apoptosis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of helicase activity|negative regulation of transcription from RNA polymerase II promoter|nucleotide-excision repair|oxidative stress-induced premature senescence|positive regulation of histone deacetylation|positive regulation of neuron apoptosis|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of reactive oxygen species metabolic process|positive regulation of thymocyte apoptosis|positive regulation of transcription from RNA polymerase II promoter|protein localization|protein tetramerization|regulation of mitochondrial membrane permeability|replicative senescence|response to X-ray|response to antibiotic|response to gamma radiation PML body|cytoplasm|cytosol|endoplasmic reticulum|insoluble fraction|mitochondrion|nuclear chromatin|nuclear matrix|nucleolus|nucleus|protein complex|replication fork ATP binding|DNA strand annealing activity|RNA polymerase II transcription factor binding|chaperone binding|chromatin binding|copper ion binding|damaged DNA binding|histone acetyltransferase binding|p53 binding|protease binding|protein N-terminus binding|protein binding|protein heterodimerization activity|protein kinase binding|protein phosphatase 2A binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|transcription repressor activity|ubiquitin protein ligase binding|zinc ion binding p.0?(8)|p.?(5)|p.V73fs*9(1)|p.Y126fs*11(1)|p.P13fs*18(1)|p.T125_Y126insX(1) NS(16)|adrenal_gland(37)|autonomic_ganglia(16)|biliary_tract(273)|bone(108)|breast(2530)|central_nervous_system(1264)|cervix(68)|endometrium(223)|eye(24)|fallopian_tube(1)|gastrointestinal_tract_(site_indeterminate)(1)|genital_tract(16)|haematopoietic_and_lymphoid_tissue(1301)|kidney(96)|large_intestine(5124)|liver(897)|lung(2388)|meninges(5)|oesophagus(1473)|ovary(1659)|pancreas(452)|penis(10)|peritoneum(33)|pituitary(4)|placenta(1)|pleura(3)|prostate(235)|salivary_gland(43)|skin(791)|small_intestine(14)|soft_tissue(220)|stomach(1158)|testis(11)|thymus(21)|thyroid(54)|upper_aerodigestive_tract(2271)|urinary_tract(1259)|vagina(6)|vulva(79) 24185 all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081) GBM - Glioblastoma multiforme(2;1.59e-06)|READ - Rectum adenocarcinoma(115;0.174) AGGGCAACTGACCGTGCAAGT 0.532000 111 """Mis, N, F""" """breast, colorectal, lung, sarcoma, adrenocortical, glioma, multiple other tumour types""" """breast, sarcoma, adrenocortical carcinoma, glioma, multiple other tumour types""" Other conserved DNA damage response genes Osteosarcoma, Familial Clustering of;Li-Fraumeni syndrome;Hereditary Breast-Ovarian Cancer, non-BRCA1/2;Hereditary Adrenocortical Cancer;Endometrial Cancer, Familial Clustering of HNSCC(1;<9.43e-08)|TCGA GBM(1;<1E-08)|TSP Lung(2;<1E-08)|TCGA Ovarian(1;<1.89e-07)|Multiple Myeloma(5;0.019) 12 22 0 0 0.000720815 0 0 CACNG3 10368 broad.mit.edu 37 16 24373178 24373178 + Silent SNP C T T TCGA-EE-A2MQ-06A-11D-A197-08 TCGA-EE-A2MQ-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0853f3bd-b4a0-4c59-8370-60a5bd58ba85 860a8640-e651-4e9d-b4f0-d1dd589628ce g.chr16:24373178C>T uc002dmf.3 + 3 2144 c.942C>T c.(940-942)ccC>ccT p.P314P NM_006539 NP_006530 O60359 CCG3_HUMAN Homo sapiens calcium channel, voltage-dependent, gamma subunit 3 (CACNG3), mRNA. 314 regulation of alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity|synaptic transmission alpha-amino-3-hydroxy-5-methyl-4-isoxazolepropionic acid selective glutamate receptor complex|endocytic vesicle membrane|voltage-gated calcium channel complex voltage-gated calcium channel activity p.P314P(2)|p.P314H(1) NS(2)|breast(1)|endometrium(4)|kidney(2)|large_intestine(10)|lung(13)|ovary(2)|prostate(4)|skin(2) 40 GBM - Glioblastoma multiforme(48;0.0809) GCACCACGCCCGTCTGAACTG 0.552000 25 13 0 0 0.000308642 0 0 BRAF 673 broad.mit.edu 37 7 140434507 140434507 + Missense_Mutation SNP G A A TCGA-EE-A2MQ-06A-11D-A197-08 TCGA-EE-A2MQ-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0853f3bd-b4a0-4c59-8370-60a5bd58ba85 860a8640-e651-4e9d-b4f0-d1dd589628ce g.chr7:140434507G>A uc003vwc.4 - 17 2252 c.2191C>T c.(2191-2193)Ccc>Tcc p.P731S NM_004333 NP_004324 P15056 BRAF_HUMAN Homo sapiens v-raf murine sarcoma viral oncogene homolog B1 (BRAF), mRNA. 731 activation of MAPKK activity|anti-apoptosis|nerve growth factor receptor signaling pathway|organ morphogenesis|positive regulation of peptidyl-serine phosphorylation|small GTPase mediated signal transduction|synaptic transmission cytosol|nucleus|plasma membrane ATP binding|metal ion binding SLC45A3/BRAF(2)|AGTRAP/BRAF(2)|FAM131B_ENST00000443739/BRAF(7)|AKAP9_ENST00000356239/BRAF(10)|KIAA1549/BRAF(703)|FCHSD1/BRAF(2) NS(588)|adrenal_gland(3)|autonomic_ganglia(3)|biliary_tract(29)|bone(7)|breast(21)|central_nervous_system(99)|cervix(6)|endometrium(33)|eye(72)|gastrointestinal_tract_(site_indeterminate)(2)|genital_tract(4)|haematopoietic_and_lymphoid_tissue(436)|kidney(3)|large_intestine(6953)|liver(17)|lung(192)|oesophagus(4)|ovary(275)|pancreas(15)|pituitary(1)|prostate(25)|salivary_gland(1)|skin(6285)|small_intestine(12)|soft_tissue(40)|stomach(11)|testis(7)|thyroid(12220)|upper_aerodigestive_tract(13)|urinary_tract(3) 27380 Melanoma(164;0.00956) Sorafenib(DB00398) TTCAAGGAGGGTTCTGATGCA 0.433000 61 """Mis, T, O""" """AKAP9, KIAA1549""" """melanoma, colorectal, papillary thyroid, borderline ov, Non small-cell lung cancer (NSCLC), cholangiocarcinoma, pilocytic astrocytoma""" Cardio-facio-cutaneous syndrome Cardiofaciocutaneous syndrome 83 139 0 0 0.000781405 0 0 MRPS31 10240 broad.mit.edu 37 13 41345346 41345346 + Splice_Site SNP C T T TCGA-EE-A2MQ-06A-11D-A197-08 TCGA-EE-A2MQ-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0853f3bd-b4a0-4c59-8370-60a5bd58ba85 860a8640-e651-4e9d-b4f0-d1dd589628ce g.chr13:41345346C>T uc001uxm.4 - 1 1 c.-74_splice c.e1-1 NM_005830 NP_005821 Q92665 RT31_HUMAN Homo sapiens mitochondrial ribosomal protein S31 (MRPS31), nuclear gene encoding mitochondrial protein, mRNA. mitochondrion|ribosome protein domain specific binding breast(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(6)|upper_aerodigestive_tract(1) 13 Lung NSC(96;3.55e-06)|Breast(139;0.00394)|Prostate(109;0.0181)|Lung SC(185;0.0262)|Hepatocellular(188;0.194) all cancers(112;1.52e-08)|Epithelial(112;7.63e-06)|OV - Ovarian serous cystadenocarcinoma(117;0.000192)|GBM - Glioblastoma multiforme(144;0.00233)|BRCA - Breast invasive adenocarcinoma(63;0.0706) CCCGCCCTCTCTTCCGCTTCC 0.637000 5 6 0 0 0.00116845 0 0 MAN1A2 10905 broad.mit.edu 37 1 117984892 117984892 + Missense_Mutation SNP C T T TCGA-EE-A2MQ-06A-11D-A197-08 TCGA-EE-A2MQ-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0853f3bd-b4a0-4c59-8370-60a5bd58ba85 860a8640-e651-4e9d-b4f0-d1dd589628ce g.chr1:117984892C>T uc001ehd.1 + 5 1616 c.895C>T c.(895-897)Ctt>Ttt p.L299F MAN1A2_uc009whg.1_Missense_Mutation_p.L89F NM_006699 NP_006690 O60476 MA1A2_HUMAN Homo sapiens mannosidase, alpha, class 1A, member 2 (MAN1A2), mRNA. 299 N-glycan processing|post-translational protein modification|protein N-linked glycosylation via asparagine Golgi membrane|integral to membrane|membrane fraction calcium ion binding|mannosyl-oligosaccharide 1,2-alpha-mannosidase activity breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(4)|lung(17)|ovary(1)|skin(1)|urinary_tract(1) 27 Lung SC(450;0.225) all_cancers(81;7.9e-06)|all_epithelial(167;7.39e-07)|all_lung(203;2.84e-06)|Lung NSC(69;1.99e-05) Lung(183;0.0688)|Kidney(133;0.114)|LUSC - Lung squamous cell carcinoma(189;0.223)|KIRC - Kidney renal clear cell carcinoma(1967;0.237)|Colorectal(144;0.243) TGAGAAACTCCTTCCTGCCTT 0.343000 65 70 0 0 0.000781405 0 0 THOC2 57187 broad.mit.edu 37 X 122754786 122754786 + Missense_Mutation SNP G A A TCGA-EE-A2MQ-06A-11D-A197-08 TCGA-EE-A2MQ-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0853f3bd-b4a0-4c59-8370-60a5bd58ba85 860a8640-e651-4e9d-b4f0-d1dd589628ce g.chrX:122754786G>A uc004etu.3 - 31 4279 c.4247C>T c.(4246-4248)cCt>cTt p.P1416L THOC2_uc010nqt.1_Non-coding_Transcript|THOC2_uc004etw.1_Missense_Mutation_p.P237L NM_001081550 NP_001075019 Q8NI27 THOC2_HUMAN Homo sapiens THO complex 2 (THOC2), mRNA. 1416 Lys-rich. RNA splicing|intronless viral mRNA export from host nucleus|mRNA processing THO complex part of transcription export complex RNA binding|protein binding breast(2)|endometrium(13)|kidney(4)|large_intestine(11)|lung(26)|ovary(3)|skin(1)|upper_aerodigestive_tract(3) 63 TGATGGAGAAGGGTGAGTATC 0.398000 177 101 0 0 0.000781405 0 0 PHYH 5264 broad.mit.edu 37 10 13336537 13336537 + Missense_Mutation SNP C T T TCGA-EE-A2MQ-06A-11D-A197-08 TCGA-EE-A2MQ-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0853f3bd-b4a0-4c59-8370-60a5bd58ba85 860a8640-e651-4e9d-b4f0-d1dd589628ce g.chr10:13336537C>T uc001imf.3 - 3 393 c.305G>A c.(304-306)aGa>aAa p.R102K PHYH_uc001ime.3_Missense_Mutation_p.R2K NM_006214 NP_001032626 O14832 PAHX_HUMAN Homo sapiens phytanoyl-CoA 2-hydroxylase (PHYH), transcript variant 1, mRNA. 102 fatty acid alpha-oxidation|nervous system development peroxisomal matrix L-ascorbic acid binding|electron carrier activity|metal ion binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|phytanoyl-CoA dioxygenase activity|protein binding NS(1)|endometrium(5)|kidney(2)|large_intestine(4)|lung(10)|pancreas(1)|prostate(2) 25 Ovarian(717;0.0448) Antihemophilic Factor(DB00025)|Vitamin C(DB00126) GGTCACATCTCTCATTACTGT 0.398000 49 20 0 0 0.00121646 0 0 OR51G1 79324 broad.mit.edu 37 11 4944836 4944836 + Missense_Mutation SNP G A A TCGA-EE-A2MQ-06A-11D-A197-08 TCGA-EE-A2MQ-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0853f3bd-b4a0-4c59-8370-60a5bd58ba85 860a8640-e651-4e9d-b4f0-d1dd589628ce g.chr11:4944836G>A uc010qyr.2 - 0 734 c.734C>T c.(733-735)tCt>tTt p.S245F NM_001005237 NP_001005237 Q8NGK1 O51G1_HUMAN Homo sapiens olfactory receptor, family 51, subfamily G, member 1 (OR51G1), mRNA. 245 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity p.V244F(1)|p.V244V(1) NS(1)|endometrium(1)|large_intestine(2)|lung(11)|ovary(2)|prostate(3)|skin(4)|soft_tissue(1) 25 Medulloblastoma(188;0.0075)|all_neural(188;0.0577)|Breast(177;0.086) Epithelial(150;2.58e-11)|BRCA - Breast invasive adenocarcinoma(625;0.0284)|LUSC - Lung squamous cell carcinoma(625;0.19) ACAGATATGAGAGACACAGGT 0.542000 42 22 0 0 0.000720815 0 0 ZDHHC17 23390 broad.mit.edu 37 12 77244685 77244685 + Missense_Mutation SNP C T T TCGA-EE-A2MQ-06A-11D-A197-08 TCGA-EE-A2MQ-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0853f3bd-b4a0-4c59-8370-60a5bd58ba85 860a8640-e651-4e9d-b4f0-d1dd589628ce g.chr12:77244685C>T uc001syk.1 + 16 1982 c.1819C>T c.(1819-1821)Cgt>Tgt p.R607C NM_015336 NP_056151 Q8IUH5 ZDH17_HUMAN Homo sapiens zinc finger, DHHC-type containing 17 (ZDHHC17), mRNA. 607 lipoprotein transport|positive regulation of I-kappaB kinase/NF-kappaB cascade Golgi-associated vesicle membrane|integral to membrane magnesium ion transmembrane transporter activity|protein binding|protein-cysteine S-palmitoleyltransferase activity|signal transducer activity|zinc ion binding breast(2)|endometrium(2)|large_intestine(3)|liver(2)|lung(14) 23 TGGCCTCTTTCGTCCTGTTAT 0.418000 84 51 0 0 0.000781405 0 0 BMP15 9210 broad.mit.edu 37 X 50659504 50659504 + Missense_Mutation SNP C A A TCGA-EE-A2MQ-06A-11D-A197-08 TCGA-EE-A2MQ-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0853f3bd-b4a0-4c59-8370-60a5bd58ba85 860a8640-e651-4e9d-b4f0-d1dd589628ce g.chrX:50659504C>A uc011mnw.2 + 1 1125 c.1076C>A c.(1075-1077)cCg>cAg p.P359Q NM_005448 NP_005439 O95972 BMP15_HUMAN Homo sapiens bone morphogenetic protein 15 (BMP15), mRNA. 359 female gamete generation|granulosa cell development|ovarian follicle development extracellular space cytokine activity|growth factor activity NS(1)|breast(2)|endometrium(4)|kidney(1)|large_intestine(5)|lung(10)|ovary(2)|skin(1) 26 Ovarian(276;0.236) TCCTGTGTCCCGTATAAGTAT 0.463000 38 37 2.09667e-21 1.87819e-20 0.000692331 1 0 GRHL2 79977 broad.mit.edu 37 8 102611373 102611373 + Silent SNP G A A TCGA-EE-A2MQ-06A-11D-A197-08 TCGA-EE-A2MQ-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0853f3bd-b4a0-4c59-8370-60a5bd58ba85 860a8640-e651-4e9d-b4f0-d1dd589628ce g.chr8:102611373G>A uc010mbu.3 + 7 1422 c.1092G>A c.(1090-1092)gaG>gaA p.E364E NM_024915 NP_079191 Q6ISB3 GRHL2_HUMAN Homo sapiens grainyhead-like 2 (Drosophila) (GRHL2), mRNA. 364 cytoplasm|nucleus DNA binding breast(3)|central_nervous_system(1)|endometrium(3)|large_intestine(6)|liver(2)|lung(6)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 28 all_cancers(14;4.39e-08)|all_epithelial(15;4.09e-10)|Lung NSC(17;7.11e-06)|all_lung(17;1.44e-05) Epithelial(11;5.81e-09)|all cancers(13;3.81e-07)|OV - Ovarian serous cystadenocarcinoma(57;0.000213) TGAATGAAGAGGCGAAGGTGA 0.378000 24 12 0 0 0.00185496 0 0 MICAL2 9645 broad.mit.edu 37 11 12246316 12246316 + Missense_Mutation SNP G C C TCGA-EE-A2MQ-06A-11D-A197-08 TCGA-EE-A2MQ-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0853f3bd-b4a0-4c59-8370-60a5bd58ba85 860a8640-e651-4e9d-b4f0-d1dd589628ce g.chr11:12246316G>C uc001mjz.3 + 12 1925 c.1637G>C c.(1636-1638)cGc>cCc p.R546P MICAL2_uc010rch.1_Missense_Mutation_p.R546P|MICAL2_uc001mka.3_Missense_Mutation_p.R546P|MICAL2_uc010rci.2_Missense_Mutation_p.R546P|MICAL2_uc001mkb.3_Missense_Mutation_p.R546P|MICAL2_uc001mkc.3_Missense_Mutation_p.R546P|MICAL2_uc001mkd.3_Missense_Mutation_p.R375P|MICAL2_uc010rcj.2_5'UTR NM_014632 NP_055447 O94851 MICA2_HUMAN Homo sapiens microtubule associated monoxygenase, calponin and LIM domain containing 2 (MICAL2), mRNA. 546 CH. cytoplasm|cytoskeleton monooxygenase activity|zinc ion binding breast(2)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(6)|lung(12)|ovary(2)|prostate(2)|skin(3)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(4) 47 Epithelial(150;0.00552) ACATCCTGGCGCAGTGGGTTG 0.642000 38 22 0 0 0.000295444 0 0 RAB3GAP2 25782 broad.mit.edu 37 1 220332750 220332750 + Missense_Mutation SNP G A A TCGA-EE-A2MQ-06A-11D-A197-08 TCGA-EE-A2MQ-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0853f3bd-b4a0-4c59-8370-60a5bd58ba85 860a8640-e651-4e9d-b4f0-d1dd589628ce g.chr1:220332750G>A uc010puk.1 - 28 3403 c.3239C>T c.(3238-3240)cCa>cTa p.P1080L RAB3GAP2_uc021pjf.1_Missense_Mutation_p.P1080L|RAB3GAP2_uc001hmf.2_Non-coding_Transcript|RAB3GAP2_uc001hmg.2_Missense_Mutation_p.P660L NM_012414 NP_036546 Q9H2M9 RBGPR_HUMAN Homo sapiens RAB3 GTPase activating protein subunit 2 (non-catalytic) (RAB3GAP2), mRNA. 1080 intracellular protein transport cytoplasm|soluble fraction GTPase activator activity|protein heterodimerization activity breast(1)|central_nervous_system(1)|endometrium(6)|kidney(2)|large_intestine(8)|lung(13)|ovary(1)|pancreas(1)|prostate(4)|skin(1)|urinary_tract(1) 39 GBM - Glioblastoma multiforme(131;0.0443) CCTATCTTTTGGTGATTTTCC 0.279000 38 25 0 0 0.000878237 0 0 OR8D1 283159 broad.mit.edu 37 11 124180459 124180459 + Silent SNP G A A rs142777403 byFrequency TCGA-EE-A2MQ-06A-11D-A197-08 TCGA-EE-A2MQ-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0853f3bd-b4a0-4c59-8370-60a5bd58ba85 860a8640-e651-4e9d-b4f0-d1dd589628ce g.chr11:124180459G>A uc010sag.2 - 0 204 c.204C>T c.(202-204)ttC>ttT p.F68F NM_001002917 NP_001002917 Q8WZ84 OR8D1_HUMAN Homo sapiens olfactory receptor, family 8, subfamily D, member 1 (OR8D1), mRNA. 68 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity kidney(1)|large_intestine(1)|lung(7)|ovary(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1) 16 Breast(109;0.0115)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|all_neural(223;0.22) BRCA - Breast invasive adenocarcinoma(274;1.49e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0528) AGAAATCGACGAAGGACAAGC 0.473000 42 28 0 0 0.000720815 0 0 LGALS9C 654346 broad.mit.edu 37 17 18387210 18387210 + Missense_Mutation SNP A G G TCGA-EE-A2MQ-06A-11D-A197-08 TCGA-EE-A2MQ-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0853f3bd-b4a0-4c59-8370-60a5bd58ba85 860a8640-e651-4e9d-b4f0-d1dd589628ce g.chr17:18387210A>G uc002gtw.3 + 1 131 c.61A>G c.(61-63)Atc>Gtc p.I21V LGALS9C_uc010vyb.2_Intron NM_001040078 NP_001035167 Q6DKI2 LEG9C_HUMAN Homo sapiens lectin, galactoside-binding, soluble, 9C (LGALS9C), mRNA. 21 Galectin 1. sugar binding NS(1)|large_intestine(1)|lung(2)|ovary(1)|prostate(2) 7 TTCTGGGACTATCCAAGGGGG 0.582000 52 31 0 0 0.00111076 0 0 ZNF812 729648 broad.mit.edu 37 19 9801776 9801776 + Missense_Mutation SNP C T T TCGA-EE-A2MQ-06A-11D-A197-08 TCGA-EE-A2MQ-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0853f3bd-b4a0-4c59-8370-60a5bd58ba85 860a8640-e651-4e9d-b4f0-d1dd589628ce g.chr19:9801776C>T uc021uop.1 - 5 1049 c.403G>A c.(403-405)Gaa>Aaa p.E135K ZNF812_uc010xkx.2_Missense_Mutation_p.E31K NM_001199814 NP_001186743 P0C7V5 ZN812_HUMAN Homo sapiens zinc finger protein 812 (ZNF812), mRNA. 135 KRAB. regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding ovary(1) 1 TTGGAAAGTTCCTGTCCAATA 0.398000 27 16 0 0 0.00074312 0 0 NCOR1 9611 broad.mit.edu 37 17 15950304 15950304 + Missense_Mutation SNP G A A TCGA-EE-A2MQ-06A-11D-A197-08 TCGA-EE-A2MQ-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0853f3bd-b4a0-4c59-8370-60a5bd58ba85 860a8640-e651-4e9d-b4f0-d1dd589628ce g.chr17:15950304G>A uc002gpo.3 - 41 6909 c.6640C>T c.(6640-6642)Cgt>Tgt p.R2214C NCOR1_uc002gpn.3_Missense_Mutation_p.R2111C|NCOR1_uc002gpl.3_Missense_Mutation_p.R229C|NCOR1_uc002gpm.3_Missense_Mutation_p.R734C|NCOR1_uc010vwb.2_Missense_Mutation_p.R798C|NCOR1_uc010coy.3_Missense_Mutation_p.R1122C|NCOR1_uc010vwc.2_Missense_Mutation_p.R1024C NM_006311 NP_006302 O75376 NCOR1_HUMAN Homo sapiens nuclear receptor corepressor 1 (NCOR1), transcript variant 1, mRNA. 2214 ID2 (By similarity).|Interaction with C1D (By similarity). cellular lipid metabolic process|chromatin modification|negative regulation of JNK cascade|regulation of glycolysis by negative regulation of transcription from an RNA polymerase II promoter|regulation of lipid transport by negative regulation of transcription from an RNA polymerase II promoter|spindle assembly|transcription from RNA polymerase II promoter nuclear chromatin|spindle microtubule|transcriptional repressor complex histone deacetylase binding|transcription corepressor activity|transcription regulatory region DNA binding NS(2)|breast(13)|central_nervous_system(2)|cervix(3)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(17)|lung(26)|ovary(1)|prostate(7)|skin(2)|upper_aerodigestive_tract(6)|urinary_tract(10) 107 UCEC - Uterine corpus endometrioid carcinoma (92;0.101) TTCAACTTACGAAAAATCTCC 0.408000 11 22 0 0 0.000295444 0 0 DPYSL5 56896 broad.mit.edu 37 2 27150151 27150151 + Missense_Mutation SNP G A A TCGA-EE-A2MQ-06A-11D-A197-08 TCGA-EE-A2MQ-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0853f3bd-b4a0-4c59-8370-60a5bd58ba85 860a8640-e651-4e9d-b4f0-d1dd589628ce g.chr2:27150151G>A uc002rhu.4 + 3 609 c.451G>A c.(451-453)Gag>Aag p.E151K DPYSL5_uc002rhv.4_Missense_Mutation_p.E151K|DPYSL5_uc021vev.1_Missense_Mutation_p.E151K NM_020134 NP_064519 Q9BPU6 DPYL5_HUMAN Homo sapiens dihydropyrimidinase-like 5 (DPYSL5), transcript variant 1, mRNA. 151 axon guidance|pyrimidine base catabolic process|signal transduction cytosol hydrolase activity, acting on carbon-nitrogen (but not peptide) bonds, in cyclic amides breast(1)|endometrium(5)|large_intestine(2)|lung(13)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1) 27 Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215) ACTGGTGAGGGAGAAGGGTGT 0.542000 10 10 0 0 0.000978159 0 0 MCTP1 79772 broad.mit.edu 37 5 94207063 94207063 + Missense_Mutation SNP C T T rs145448158 TCGA-EE-A2MQ-06A-11D-A197-08 TCGA-EE-A2MQ-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0853f3bd-b4a0-4c59-8370-60a5bd58ba85 860a8640-e651-4e9d-b4f0-d1dd589628ce g.chr5:94207063C>T uc003kkx.2 - 13 2096 c.2096G>A c.(2095-2097)cGa>cAa p.R699Q MCTP1_uc003kkv.2_Missense_Mutation_p.R478Q|MCTP1_uc003kkw.2_Missense_Mutation_p.R432Q|MCTP1_uc003kkz.2_Missense_Mutation_p.R360Q|MCTP1_uc003kku.2_Missense_Mutation_p.R215Q NM_024717 NP_078993 Q6DN14 MCTP1_HUMAN Homo sapiens multiple C2 domains, transmembrane 1 (MCTP1), transcript variant L, mRNA. 699 C2 3. calcium-mediated signaling integral to membrane|membrane fraction calcium ion binding breast(1)|endometrium(3)|large_intestine(13)|liver(2)|lung(13)|ovary(2)|skin(4)|stomach(2)|urinary_tract(1) 41 all_cancers(142;1.68e-05)|all_epithelial(76;1.51e-07)|all_lung(232;0.0167)|Lung NSC(167;0.0207)|Ovarian(225;0.0218)|Colorectal(57;0.207) all cancers(79;9.1e-17) GTCAGCACTTCGATCCCGATC 0.353000 38 28 0 0 0.00178596 0 0 USP34 9736 broad.mit.edu 37 2 61454326 61454326 + Missense_Mutation SNP C T T TCGA-EE-A2MQ-06A-11D-A197-08 TCGA-EE-A2MQ-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0853f3bd-b4a0-4c59-8370-60a5bd58ba85 860a8640-e651-4e9d-b4f0-d1dd589628ce g.chr2:61454326C>T uc002sbe.3 - 61 7493 c.7471G>A c.(7471-7473)Gaa>Aaa p.E2491K USP34_uc002sbf.3_Missense_Mutation_p.E641K NM_014709 NP_055524 Q70CQ2 UBP34_HUMAN Homo sapiens ubiquitin specific peptidase 34 (USP34), mRNA. 2491 Wnt receptor signaling pathway|positive regulation of canonical Wnt receptor signaling pathway|protein K48-linked deubiquitination|ubiquitin-dependent protein catabolic process cysteine-type endopeptidase activity|protein binding|ubiquitin thiolesterase activity|ubiquitin-specific protease activity autonomic_ganglia(1)|breast(14)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(24)|lung(52)|ovary(8)|prostate(10)|skin(6)|urinary_tract(2) 138 Epithelial(17;0.229) tcttccccttcttcctctGAT 0.358000 9 7 0 0 8.12818e-05 0 0 ATP8A1 10396 broad.mit.edu 37 4 42445613 42445613 + Missense_Mutation SNP G C C TCGA-EE-A2MQ-06A-11D-A197-08 TCGA-EE-A2MQ-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0853f3bd-b4a0-4c59-8370-60a5bd58ba85 860a8640-e651-4e9d-b4f0-d1dd589628ce g.chr4:42445613G>C uc003gwr.2 - 32 3324 c.3092C>G c.(3091-3093)gCc>gGc p.A1031G ATP8A1_uc003gwq.2_Missense_Mutation_p.A257G|ATP8A1_uc003gws.2_Missense_Mutation_p.A1016G NM_006095 NP_006086 Q9Y2Q0 AT8A1_HUMAN Homo sapiens ATPase, aminophospholipid transporter (APLT), class I, type 8A, member 1 (ATP8A1), transcript variant 1, mRNA. 1031 ATP biosynthetic process chromaffin granule membrane|integral to membrane|plasma membrane ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|aminophospholipid transporter activity|cation-transporting ATPase activity|magnesium ion binding|phospholipid-translocating ATPase activity NS(1)|central_nervous_system(3)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(13)|lung(18)|pancreas(1)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(3) 51 Phosphatidylserine(DB00144) CATCGGAATGGCAGGCCACAG 0.448000 12 14 0 0 0.000422831 0 0 PTPRT 11122 broad.mit.edu 37 20 41385183 41385183 + Missense_Mutation SNP G A A TCGA-EE-A2MQ-06A-11D-A197-08 TCGA-EE-A2MQ-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0853f3bd-b4a0-4c59-8370-60a5bd58ba85 860a8640-e651-4e9d-b4f0-d1dd589628ce g.chr20:41385183G>A uc002xkg.3 - 5 962 c.778C>T c.(778-780)Cgg>Tgg p.R260W PTPRT_uc010ggj.3_Missense_Mutation_p.R260W NM_007050 NP_008981 O14522 PTPRT_HUMAN Homo sapiens protein tyrosine phosphatase, receptor type, T (PTPRT), transcript variant 2, mRNA. 260 Ig-like C2-type. homophilic cell adhesion|transmembrane receptor protein tyrosine kinase signaling pathway cell surface|integral to membrane|plasma membrane alpha-catenin binding|beta-catenin binding|cadherin binding|delta-catenin binding|gamma-catenin binding|protein tyrosine phosphatase activity|receptor activity NS(2)|breast(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(4)|kidney(12)|large_intestine(26)|liver(1)|lung(63)|ovary(8)|pancreas(2)|prostate(5)|skin(35)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(3) 176 Myeloproliferative disorder(115;0.00452)|Lung NSC(126;0.0573)|all_lung(126;0.0783) CTGACGCTCCGCTGGGCAGTG 0.607000 18 17 0 0 0.00074312 0 0 KIAA1755 85449 broad.mit.edu 37 20 36841569 36841570 + Missense_Mutation DNP GG AA AA TCGA-EE-A2MQ-06A-11D-A197-08 TCGA-EE-A2MQ-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0853f3bd-b4a0-4c59-8370-60a5bd58ba85 860a8640-e651-4e9d-b4f0-d1dd589628ce g.chr20:36841569_36841570GG>AA uc002xhy.1 - 13 3749_3750 c.3477_3478CC>TT c.(3475-3480)ttccgg>ttTTgg p.R1160W KIAA1755_uc002xhv.1_Missense_Mutation_p.R224W|KIAA1755_uc002xhw.1_Missense_Mutation_p.R215W|KIAA1755_uc002xhx.1_Missense_Mutation_p.R438W NM_001029864 NP_001025035 Q5JYT7 K1755_HUMAN Homo sapiens KIAA1755 (KIAA1755), mRNA. 1160 breast(2)|endometrium(3)|kidney(1)|large_intestine(5)|lung(31)|ovary(5)|pancreas(2)|skin(4)|stomach(1) 54 Myeloproliferative disorder(115;0.00874) GGCTGCTGCCGGAAGAAGGTGG 0.649000 51 27 0 0 6.4e-05 0 0 ZDHHC21 340481 broad.mit.edu 37 9 14639981 14639981 + Silent SNP G A A TCGA-EE-A2MQ-06A-11D-A197-08 TCGA-EE-A2MQ-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0853f3bd-b4a0-4c59-8370-60a5bd58ba85 860a8640-e651-4e9d-b4f0-d1dd589628ce g.chr9:14639981G>A uc003zlh.2 - 7 1012 c.534C>T c.(532-534)gcC>gcT p.A178A ZDHHC21_uc003zlg.2_Intron NM_178566 NP_848661 Q8IVQ6 ZDH21_HUMAN Homo sapiens zinc finger, DHHC-type containing 21 (ZDHHC21), mRNA. 178 nitric oxide metabolic process|regulation of nitric-oxide synthase activity Golgi membrane|integral to membrane palmitoyltransferase activity|zinc ion binding endometrium(2)|large_intestine(4)|lung(2)|skin(1) 9 GBM - Glioblastoma multiforme(50;4.31e-06) GTCTCATTATGGCCAATTCAT 0.333000 79 36 0 0 0.00111076 0 0 MXRA5 25878 broad.mit.edu 37 X 3241563 3241563 + Silent SNP C T T TCGA-EE-A2MQ-06A-11D-A197-08 TCGA-EE-A2MQ-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0853f3bd-b4a0-4c59-8370-60a5bd58ba85 860a8640-e651-4e9d-b4f0-d1dd589628ce g.chrX:3241563C>T uc004crg.4 - 4 2320 c.2163G>A c.(2161-2163)gaG>gaA p.E721E NM_015419 NP_056234 Q9NR99 MXRA5_HUMAN Homo sapiens matrix-remodelling associated 5 (MXRA5), mRNA. 721 extracellular region NS(1)|biliary_tract(1)|breast(4)|central_nervous_system(3)|cervix(2)|endometrium(8)|kidney(2)|large_intestine(32)|lung(81)|ovary(6)|prostate(3)|skin(9)|stomach(3)|urinary_tract(2) 157 all_lung(23;0.00031)|Lung NSC(23;0.000946) TGAGGAACACCTCTTGGTCCT 0.473000 35 28 0 0 0.00106085 0 0 CPXM2 119587 broad.mit.edu 37 10 125521553 125521553 + Missense_Mutation SNP C T T TCGA-EE-A2MQ-06A-11D-A197-08 TCGA-EE-A2MQ-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0853f3bd-b4a0-4c59-8370-60a5bd58ba85 860a8640-e651-4e9d-b4f0-d1dd589628ce g.chr10:125521553C>T uc001lhk.1 - 10 1937 c.1612G>A c.(1612-1614)Gaa>Aaa p.E538K CPXM2_uc001lhj.3_Non-coding_Transcript NM_198148 NP_937791 Q8N436 CPXM2_HUMAN Homo sapiens carboxypeptidase X (M14 family), member 2 (CPXM2), mRNA. 538 cell adhesion|proteolysis extracellular space metallocarboxypeptidase activity|zinc ion binding NS(1)|autonomic_ganglia(1)|breast(1)|endometrium(7)|kidney(2)|large_intestine(13)|lung(15)|ovary(2)|prostate(2)|skin(3) 47 all_lung(145;0.174)|Colorectal(57;0.178)|Glioma(114;0.222)|all_neural(114;0.226)|Lung NSC(174;0.233) COAD - Colon adenocarcinoma(40;0.212)|Colorectal(40;0.237) GGGGTGTGTTCCTGCGTCTTC 0.652000 50 26 0 0 0.00127121 0 0 EPHX4 253152 broad.mit.edu 37 1 92528792 92528792 + Silent SNP G A A TCGA-EE-A2MQ-06A-11D-A197-08 TCGA-EE-A2MQ-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0853f3bd-b4a0-4c59-8370-60a5bd58ba85 860a8640-e651-4e9d-b4f0-d1dd589628ce g.chr1:92528792G>A uc001don.2 + 6 1142 c.1038G>A c.(1036-1038)gtG>gtA p.V346V NM_173567 NP_775838 Q8IUS5 EPHX4_HUMAN Homo sapiens epoxide hydrolase 4 (EPHX4), mRNA. 346 integral to membrane hydrolase activity p.V346V(2) central_nervous_system(1)|large_intestine(3)|lung(8) 12 CTGACATAGTGAACAAATTGA 0.318000 49 24 0 0 0.000720815 0 0 ZNF804A 91752 broad.mit.edu 37 2 185801484 185801484 + Missense_Mutation SNP C T T TCGA-EE-A2MQ-06A-11D-A197-08 TCGA-EE-A2MQ-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0853f3bd-b4a0-4c59-8370-60a5bd58ba85 860a8640-e651-4e9d-b4f0-d1dd589628ce g.chr2:185801484C>T uc002uph.3 + 3 1955 c.1361C>T c.(1360-1362)tCc>tTc p.S454F NM_194250 NP_919226 Q7Z570 Z804A_HUMAN Homo sapiens zinc finger protein 804A (ZNF804A), mRNA. 454 intracellular zinc ion binding p.I453M(1) NS(5)|breast(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(22)|liver(2)|lung(79)|ovary(7)|pancreas(1)|prostate(2)|skin(12)|urinary_tract(1) 146 CCATCAATTTCCTATAGCTGT 0.348000 73 39 0 0 0.000953801 0 0 NOTCH2 4853 broad.mit.edu 37 1 120461032 120461032 + Missense_Mutation SNP G T T TCGA-EE-A2MQ-06A-11D-A197-08 TCGA-EE-A2MQ-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0853f3bd-b4a0-4c59-8370-60a5bd58ba85 860a8640-e651-4e9d-b4f0-d1dd589628ce g.chr1:120461032G>T uc001eik.3 - 31 6223 c.5926C>A c.(5926-5928)Cat>Aat p.H1976N NM_024408 NP_077719 Q04721 NOTC2_HUMAN Homo sapiens notch 2 (NOTCH2), transcript variant 1, mRNA. 1976 Notch receptor processing|Notch signaling pathway|anti-apoptosis|bone remodeling|cell cycle arrest|cell fate determination|cell growth|hemopoiesis|induction of apoptosis|negative regulation of cell proliferation|nervous system development|organ morphogenesis|positive regulation of Ras protein signal transduction|regulation of transcription, DNA-dependent|stem cell maintenance|transcription, DNA-dependent Golgi lumen|cell surface|cytosol|endoplasmic reticulum lumen|extracellular region|integral to plasma membrane|nucleoplasm calcium ion binding|ligand-regulated transcription factor activity|protein binding|receptor activity p.D1975G(1) breast(4)|central_nervous_system(6)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(9)|kidney(9)|large_intestine(19)|liver(1)|lung(57)|ovary(4)|pancreas(1)|prostate(7)|skin(24)|stomach(2)|upper_aerodigestive_tract(5)|urinary_tract(1) 158 all_neural(166;0.153) all_lung(203;1.96e-06)|Lung NSC(69;1.47e-05)|all_epithelial(167;0.000809) Lung(183;0.0242)|LUSC - Lung squamous cell carcinoma(189;0.133) TCCCTACCATGGTCATCCACT 0.532000 """N, F, Mis""" """marginal zone lymphoma, DLBCL""" Alagille Syndrome 453 10 0.000442599 0.00384628 0.000442599 1 0 PAH 5053 broad.mit.edu 37 12 103240729 103240729 + Splice_Site SNP C T T TCGA-EE-A2MQ-06A-11D-A197-08 TCGA-EE-A2MQ-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0853f3bd-b4a0-4c59-8370-60a5bd58ba85 860a8640-e651-4e9d-b4f0-d1dd589628ce g.chr12:103240729C>T uc001tjq.1 - 9 1386 c.913_splice c.e9-1 p.E305_splice NM_000277 NP_000268 P00439 PH4H_HUMAN Homo sapiens phenylalanine hydroxylase (PAH), mRNA. 305 L-phenylalanine catabolic process|catecholamine biosynthetic process|neurotransmitter biosynthetic process cytosol phenylalanine 4-monooxygenase activity endometrium(1)|kidney(3)|large_intestine(5)|lung(10)|ovary(5)|skin(2)|urinary_tract(1) 27 Epinephrine(DB00668)|L-Phenylalanine(DB00120)|Levodopa(DB01235)|Norepinephrine(DB00368)|Tetrahydrobiopterin(DB00360) AGGCCAATTTCCTGTAATTGG 0.493000 33 21 0 0 0.000586117 0 0 SEZ6L 23544 broad.mit.edu 37 22 26688664 26688664 + Silent SNP G A A TCGA-EE-A2MQ-06A-11D-A197-08 TCGA-EE-A2MQ-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0853f3bd-b4a0-4c59-8370-60a5bd58ba85 860a8640-e651-4e9d-b4f0-d1dd589628ce g.chr22:26688664G>A uc003acb.3 + 1 583 c.387G>A c.(385-387)agG>agA p.R129R SEZ6L_uc003acd.3_Silent_p.R129R|SEZ6L_uc011akd.2_Silent_p.R129R|SEZ6L_uc003ace.3_Silent_p.R129R|SEZ6L_uc011akc.2_Silent_p.R129R|SEZ6L_uc003acc.3_Silent_p.R129R|SEZ6L_uc003acf.1_5'UTR|SEZ6L_uc010gvc.1_5'UTR NM_021115 NP_066938 Q9BYH1 SE6L1_HUMAN Homo sapiens seizure related 6 homolog (mouse)-like (SEZ6L), transcript variant 1, mRNA. 129 endoplasmic reticulum membrane|integral to membrane breast(1)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(18)|lung(35)|ovary(4)|pancreas(1)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(1) 80 ACTCTGCCAGGAAGCAGCTGA 0.652000 16 17 0 0 0.000958276 0 0 GPR116 221395 broad.mit.edu 37 6 46828604 46828604 + Missense_Mutation SNP C T T TCGA-EE-A2MQ-06A-11D-A197-08 TCGA-EE-A2MQ-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0853f3bd-b4a0-4c59-8370-60a5bd58ba85 860a8640-e651-4e9d-b4f0-d1dd589628ce g.chr6:46828604C>T uc003oyo.3 - 15 2516 c.2227G>A c.(2227-2229)Gag>Aag p.E743K GPR116_uc011dwj.1_Missense_Mutation_p.E298K|GPR116_uc011dwk.1_Missense_Mutation_p.E172K|GPR116_uc003oyp.3_Missense_Mutation_p.E601K|GPR116_uc003oyq.3_Missense_Mutation_p.E743K|GPR116_uc010jzi.1_Missense_Mutation_p.E415K NM_001098518 NP_056049 Q8IZF2 GP116_HUMAN Homo sapiens G protein-coupled receptor 116 (GPR116), transcript variant 2, mRNA. 743 neuropeptide signaling pathway integral to membrane|plasma membrane G-protein coupled receptor activity breast(2)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(14)|lung(21)|ovary(1)|pancreas(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1) 59 Lung(136;0.192) GGGAGCATCTCATCCTGAGAG 0.413000 53 18 0 0 0.00188189 0 0 CSMD3 114788 broad.mit.edu 37 8 113966914 113966914 + Splice_Site SNP G A A TCGA-EE-A2MQ-06A-11D-A197-08 TCGA-EE-A2MQ-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0853f3bd-b4a0-4c59-8370-60a5bd58ba85 860a8640-e651-4e9d-b4f0-d1dd589628ce g.chr8:113966914G>A uc003ynu.3 - 8 1579 c.1420_splice c.e8+1 p.L474_splice CSMD3_uc003ynt.3_Splice_Site_p.L434_splice|CSMD3_uc011lhx.2_Splice_Site_p.L370_splice NM_198123 NP_937756 Q7Z407 CSMD3_HUMAN Homo sapiens CUB and Sushi multiple domains 3 (CSMD3), transcript variant a, mRNA. 474 integral to membrane|plasma membrane breast(7)|central_nervous_system(6)|endometrium(44)|haematopoietic_and_lymphoid_tissue(8)|kidney(36)|large_intestine(72)|liver(5)|lung(389)|ovary(24)|prostate(6)|skin(23)|upper_aerodigestive_tract(19)|urinary_tract(7) 646 TACACTCACAGATAGAAAACT 0.313000 HNSCC(6;0.00088)|TCGA Ovarian(7;0.080) 13 6 0 0 0.00116845 0 0 RYR1 6261 broad.mit.edu 37 19 39075739 39075739 + Splice_Site SNP G A A TCGA-EE-A2MQ-06A-11D-A197-08 TCGA-EE-A2MQ-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0853f3bd-b4a0-4c59-8370-60a5bd58ba85 860a8640-e651-4e9d-b4f0-d1dd589628ce g.chr19:39075739G>A uc002oit.3 + 102 14933 c.14803_splice c.e102+1 p.G4935_splice RYR1_uc002oiu.3_Splice_Site_p.G4930_splice NM_000540 NP_000531 P21817 RYR1_HUMAN Homo sapiens ryanodine receptor 1 (skeletal) (RYR1), transcript variant 1, mRNA. 4935 muscle contraction|release of sequestered calcium ion into cytosol|response to caffeine|response to hypoxia I band|cell cortex|cytosol|integral to plasma membrane|junctional sarcoplasmic reticulum membrane|smooth endoplasmic reticulum|terminal cisterna calcium ion binding|calmodulin binding|receptor activity|ryanodine-sensitive calcium-release channel activity NS(4)|autonomic_ganglia(2)|breast(3)|central_nervous_system(5)|endometrium(26)|haematopoietic_and_lymphoid_tissue(3)|kidney(34)|large_intestine(42)|liver(1)|lung(106)|ovary(11)|pancreas(5)|prostate(9)|skin(12)|stomach(11)|upper_aerodigestive_tract(4)|urinary_tract(7) 285 all_cancers(60;7.91e-06) Lung(45;0.00172)|LUSC - Lung squamous cell carcinoma(53;0.00272) Dantrolene(DB01219) CATCATCCAGGGTCAGTGCTG 0.592000 9 10 0 0 0.00136819 0 0 CEP290 80184 broad.mit.edu 37 12 88472896 88472896 + Silent SNP G A A TCGA-EE-A2MQ-06A-11D-A197-08 TCGA-EE-A2MQ-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0853f3bd-b4a0-4c59-8370-60a5bd58ba85 860a8640-e651-4e9d-b4f0-d1dd589628ce g.chr12:88472896G>A uc001tar.3 - 38 5681 c.5337C>T c.(5335-5337)atC>atT p.I1779I CEP290_uc001taq.3_Silent_p.I839I NM_025114 NP_079390 O15078 CE290_HUMAN Homo sapiens centrosomal protein 290kDa (CEP290), mRNA. 1779 G2/M transition of mitotic cell cycle|cilium assembly|eye photoreceptor cell development|hindbrain development|otic vesicle formation|positive regulation of transcription, DNA-dependent|pronephros development|protein transport cell surface|centrosome|cytosol|nucleus|photoreceptor connecting cilium protein binding breast(4)|central_nervous_system(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(20)|liver(1)|lung(18)|ovary(5)|pancreas(1)|prostate(2)|stomach(1)|upper_aerodigestive_tract(1) 73 GTCGATCAACGATTTGTTGAA 0.378000 20 12 0 0 0.00185496 0 0 CACNG3 10368 broad.mit.edu 37 16 24372868 24372868 + Missense_Mutation SNP C T T TCGA-EE-A2MQ-06A-11D-A197-08 TCGA-EE-A2MQ-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0853f3bd-b4a0-4c59-8370-60a5bd58ba85 860a8640-e651-4e9d-b4f0-d1dd589628ce g.chr16:24372868C>T uc002dmf.3 + 3 1834 c.632C>T c.(631-633)tCc>tTc p.S211F NM_006539 NP_006530 O60359 CCG3_HUMAN Homo sapiens calcium channel, voltage-dependent, gamma subunit 3 (CACNG3), mRNA. 211 regulation of alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity|synaptic transmission alpha-amino-3-hydroxy-5-methyl-4-isoxazolepropionic acid selective glutamate receptor complex|endocytic vesicle membrane|voltage-gated calcium channel complex voltage-gated calcium channel activity NS(2)|breast(1)|endometrium(4)|kidney(2)|large_intestine(10)|lung(13)|ovary(2)|prostate(4)|skin(2) 40 GBM - Glioblastoma multiforme(48;0.0809) CGAGCCAAATCCCACTCGGAG 0.498000 40 37 0 0 0.000953801 0 0 PSORS1C2 170680 broad.mit.edu 37 6 31105933 31105933 + Missense_Mutation SNP G A A TCGA-EE-A2MQ-06A-11D-A197-08 TCGA-EE-A2MQ-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0853f3bd-b4a0-4c59-8370-60a5bd58ba85 860a8640-e651-4e9d-b4f0-d1dd589628ce g.chr6:31105933G>A uc003nso.4 - 1 530 c.206C>T c.(205-207)cCc>cTc p.P69L PSORS1C1_uc003nsl.2_Intron|PSORS1C1_uc010jsj.2_Intron|PSORS1C1_uc003nsn.2_Intron NM_014069 NP_054788 Q9UIG4 PS1C2_HUMAN Homo sapiens psoriasis susceptibility 1 candidate 2 (PSORS1C2), mRNA. 69 extracellular region NS(1)|central_nervous_system(1)|large_intestine(1)|ovary(1) 4 GGGACGACTGGGGCGGGTAGG 0.667000 52 14 0 0 0.000308642 0 0 ZNF334 55713 broad.mit.edu 37 20 45130122 45130122 + Missense_Mutation SNP C T T rs146816699 byFrequency TCGA-EE-A2MQ-06A-11D-A197-08 TCGA-EE-A2MQ-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0853f3bd-b4a0-4c59-8370-60a5bd58ba85 860a8640-e651-4e9d-b4f0-d1dd589628ce g.chr20:45130122C>T uc002xsa.3 - 3 2387 c.1925G>A c.(1924-1926)aGa>aAa p.R642K ZNF334_uc002xsb.3_Missense_Mutation_p.R581K|ZNF334_uc002xsd.3_Missense_Mutation_p.R581K|ZNF334_uc002xsc.3_Missense_Mutation_p.R619K|ZNF334_uc010ghl.3_Missense_Mutation_p.R618K Q9HCZ1 ZN334_HUMAN Homo sapiens zinc finger protein 334 (ZNF334), transcript variant 2, mRNA. 619 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding NS(1)|breast(2)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(8)|ovary(1)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1) 32 Myeloproliferative disorder(115;0.0122) GTGAATTCTTCTATGGACTCT 0.428000 59 36 0 0 0.00111076 0 0 UGT3A2 167127 broad.mit.edu 37 5 36035825 36035825 + Missense_Mutation SNP C T T TCGA-EE-A2MQ-06A-11D-A197-08 TCGA-EE-A2MQ-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0853f3bd-b4a0-4c59-8370-60a5bd58ba85 860a8640-e651-4e9d-b4f0-d1dd589628ce g.chr5:36035825C>T uc003jjz.2 - 6 1679 c.1547G>A c.(1546-1548)gGg>gAg p.G516E UGT3A2_uc011cos.2_Missense_Mutation_p.G482E|UGT3A2_uc011cot.2_Missense_Mutation_p.G214E NM_174914 NP_777574 Q3SY77 UD3A2_HUMAN Homo sapiens UDP glycosyltransferase 3 family, polypeptide A2 (UGT3A2), transcript variant 1, mRNA. 516 integral to membrane glucuronosyltransferase activity p.R515H(2) NS(1)|autonomic_ganglia(1)|breast(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(9)|lung(20)|ovary(2)|pancreas(1)|prostate(1)|skin(3) 43 all_lung(31;0.000179) Lung(74;0.111)|Epithelial(62;0.113)|COAD - Colon adenocarcinoma(61;0.14)|Colorectal(62;0.202) CTTTCTGGCCCCACGCAGCCA 0.577000 7 13 0 0 0.000308642 0 0 MYO9B 4650 broad.mit.edu 37 19 17295779 17295779 + Missense_Mutation SNP A G G TCGA-EE-A2MQ-06A-11D-A197-08 TCGA-EE-A2MQ-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0853f3bd-b4a0-4c59-8370-60a5bd58ba85 860a8640-e651-4e9d-b4f0-d1dd589628ce g.chr19:17295779A>G uc010eak.3 + 16 2631 c.2479A>G c.(2479-2481)Atc>Gtc p.I827V MYO9B_uc002nfi.3_Missense_Mutation_p.I827V|MYO9B_uc002nfj.1_Missense_Mutation_p.I827V NM_004145 NP_004136 Q13459 MYO9B_HUMAN Homo sapiens myosin IXB (MYO9B), transcript variant 1, mRNA. 827 Myosin head-like. actin filament-based movement cell cortex|cytosol|filamentous actin|myosin complex|perinuclear region of cytoplasm ADP binding|ATP binding|ATPase activity|Rho GTPase activator activity|actin binding|calmodulin binding|metal ion binding|microfilament motor activity breast(3)|endometrium(9)|kidney(2)|large_intestine(1)|lung(19)|soft_tissue(1)|urinary_tract(4) 39 GCCACCAAGCATCAGCGCCCA 0.582000 62 38 0 0 0.00195071 0 0 HYDIN 54768 broad.mit.edu 37 16 71163640 71163640 + Missense_Mutation SNP T A A TCGA-EE-A2MQ-06A-11D-A197-08 TCGA-EE-A2MQ-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0853f3bd-b4a0-4c59-8370-60a5bd58ba85 860a8640-e651-4e9d-b4f0-d1dd589628ce g.chr16:71163640T>A uc002ezr.3 - 8 1281 c.1130A>T c.(1129-1131)cAt>cTt p.H377L HYDIN_uc010cfz.2_Missense_Mutation_p.H122L|HYDIN_uc021tkq.1_Missense_Mutation_p.H377L|HYDIN_uc010vmc.2_Missense_Mutation_p.H394L|HYDIN_uc010vmd.2_Missense_Mutation_p.H404L|HYDIN_uc002ezw.4_Missense_Mutation_p.H394L NM_032821 NP_116210 Q4G0P3 HYDIN_HUMAN Homo sapiens HYDIN, axonemal central pair apparatus protein (HYDIN), transcript variant 1, mRNA. 377 breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(17)|lung(12)|ovary(2)|skin(3)|stomach(2)|upper_aerodigestive_tract(1) 43 Ovarian(137;0.0654) AACAGAAAGATGTTCTCGGAG 0.468000 21 10 0 0 0.00185496 0 0 RYR2 6262 broad.mit.edu 37 1 237774098 237774098 + Nonsense_Mutation SNP G T T TCGA-EE-A2MQ-06A-11D-A197-08 TCGA-EE-A2MQ-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0853f3bd-b4a0-4c59-8370-60a5bd58ba85 860a8640-e651-4e9d-b4f0-d1dd589628ce g.chr1:237774098G>T uc001hyl.1 + 35 4840 c.4720G>T c.(4720-4722)Gag>Tag p.E1574* NM_001035 NP_001026 Q92736 RYR2_HUMAN Homo sapiens ryanodine receptor 2 (cardiac) (RYR2), mRNA. 1574 4 X approximate repeats. cardiac muscle contraction|detection of calcium ion|induction of apoptosis by ionic changes|regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion|release of sequestered calcium ion into cytosol by sarcoplasmic reticulum|response to caffeine|response to hypoxia|response to redox state calcium channel complex|cytosol|plasma membrane|plasma membrane enriched fraction|sarcoplasmic reticulum membrane calcium ion binding|calmodulin binding|identical protein binding|protein kinase A catalytic subunit binding|protein kinase A regulatory subunit binding|receptor activity|ryanodine-sensitive calcium-release channel activity|suramin binding p.H1573R(1) NS(4)|breast(8)|central_nervous_system(11)|cervix(2)|endometrium(39)|haematopoietic_and_lymphoid_tissue(5)|kidney(17)|large_intestine(83)|liver(4)|lung(353)|ovary(18)|pancreas(5)|prostate(12)|skin(8)|stomach(1)|upper_aerodigestive_tract(12)|urinary_tract(4) 586 Ovarian(103;0.103) all_cancers(173;0.000368)|Melanoma(53;0.0179)|all_epithelial(177;0.0225) OV - Ovarian serous cystadenocarcinoma(106;0.00606) ATTCAAGAGTGAGCACAAGAA 0.527000 8 5 2.0095e-06 1.76549e-05 8.12818e-05 1 0 SLITRK3 22865 broad.mit.edu 37 3 164908061 164908061 + Silent SNP G A A TCGA-EE-A2MQ-06A-11D-A197-08 TCGA-EE-A2MQ-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0853f3bd-b4a0-4c59-8370-60a5bd58ba85 860a8640-e651-4e9d-b4f0-d1dd589628ce g.chr3:164908061G>A uc003fej.4 - 1 1002 c.558C>T c.(556-558)ccC>ccT p.P186P SLITRK3_uc003fek.3_Silent_p.P186P|SLITRK3_uc021xgy.1_Silent_p.P186P NM_014926 NP_055741 O94933 SLIK3_HUMAN Homo sapiens SLIT and NTRK-like family, member 3 (SLITRK3), mRNA. 186 integral to membrane NS(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(14)|lung(66)|ovary(6)|pancreas(1)|prostate(4)|skin(5)|upper_aerodigestive_tract(5) 119 TTGGAAGCATGGGGATGAGAT 0.383000 HNSCC(40;0.11) 31 23 0 0 0.000375601 0 0 OR52A5 390054 broad.mit.edu 37 11 5153784 5153784 + Missense_Mutation SNP C T T TCGA-EE-A2MQ-06A-11D-A197-08 TCGA-EE-A2MQ-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0853f3bd-b4a0-4c59-8370-60a5bd58ba85 860a8640-e651-4e9d-b4f0-d1dd589628ce g.chr11:5153784C>T uc010qyx.2 - 0 89 c.89G>A c.(88-90)gGg>gAg p.G30E NM_001005160 NP_001005160 Q9H2C5 O52A5_HUMAN Homo sapiens olfactory receptor, family 52, subfamily A, member 5 (OR52A5), mRNA. 30 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity NS(1)|breast(1)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(8)|lung(18)|skin(3) 35 Medulloblastoma(188;0.0049)|all_neural(188;0.0442)|Breast(177;0.0675) Epithelial(150;1.74e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)|LUSC - Lung squamous cell carcinoma(625;0.2) GAAAGGAATCCCAATCCAACA 0.398000 24 22 0 0 0.00047179 0 0 CCDC129 223075 broad.mit.edu 37 7 31617863 31617863 + Missense_Mutation SNP C T T TCGA-EE-A2MQ-06A-11D-A197-08 TCGA-EE-A2MQ-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0853f3bd-b4a0-4c59-8370-60a5bd58ba85 860a8640-e651-4e9d-b4f0-d1dd589628ce g.chr7:31617863C>T uc011kae.2 + 7 1075 c.1063C>T c.(1063-1065)Cct>Tct p.P355S CCDC129_uc011kad.1_Missense_Mutation_p.P339S|CCDC129_uc003tcj.1_Missense_Mutation_p.P329S|CCDC129_uc003tci.1_Intron|CCDC129_uc003tck.1_Missense_Mutation_p.P237S NM_194300 NP_919276 Q6ZRS4 CC129_HUMAN Homo sapiens coiled-coil domain containing 129 (CCDC129), mRNA. 329 cervix(1)|endometrium(3)|kidney(3)|large_intestine(6)|lung(31) 44 ACCTTATCCTCCTCATGGTCT 0.502000 54 17 0 0 0.00074312 0 0 KCNJ3 3760 broad.mit.edu 37 2 155566133 155566133 + Missense_Mutation SNP G A A TCGA-EE-A2MQ-06A-11D-A197-08 TCGA-EE-A2MQ-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0853f3bd-b4a0-4c59-8370-60a5bd58ba85 860a8640-e651-4e9d-b4f0-d1dd589628ce g.chr2:155566133G>A uc002tyv.1 + 1 916 c.721G>A c.(721-723)Ggt>Agt p.G241S KCNJ3_uc010zce.1_Intron|KCNJ3_uc021vrh.1_Missense_Mutation_p.G241S NM_002239 NP_002230 P48549 IRK3_HUMAN Homo sapiens potassium inwardly-rectifying channel, subfamily J, member 3 (KCNJ3), mRNA. 241 synaptic transmission voltage-gated potassium channel complex G-protein activated inward rectifier potassium channel activity|protein binding breast(2)|endometrium(2)|kidney(3)|large_intestine(9)|lung(30)|pancreas(1)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1) 54 Halothane(DB01159) GACACCTGAGGGTGAGTTCCT 0.443000 53 32 0 0 0.000692331 0 0 GABPB2 126626 broad.mit.edu 37 1 151070438 151070438 + Silent SNP C T T TCGA-EE-A2MQ-06A-11D-A197-08 TCGA-EE-A2MQ-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0853f3bd-b4a0-4c59-8370-60a5bd58ba85 860a8640-e651-4e9d-b4f0-d1dd589628ce g.chr1:151070438C>T uc001ewr.2 + 4 913 c.582C>T c.(580-582)ctC>ctT p.L194L GABPB2_uc010pcp.1_Silent_p.L210L|GABPB2_uc001ewt.2_Silent_p.L93L NM_144618 NP_653219 Q8TAK5 GABP2_HUMAN Homo sapiens GA binding protein transcription factor, beta subunit 2 (GABPB2), mRNA. 194 positive regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent nucleus protein heterodimerization activity|transcription regulatory region DNA binding breast(1)|endometrium(2)|large_intestine(3)|liver(2)|lung(7) 15 all cancers(107;7.17e-05)|GBM - Glioblastoma multiforme(94;0.000662) TTGTTAACCTCGCAAGCCTTA 0.413000 58 42 0 0 0.000680045 0 0 CCDC88C 440193 broad.mit.edu 37 14 91805692 91805692 + Missense_Mutation SNP C T T TCGA-EE-A2MQ-06A-11D-A197-08 TCGA-EE-A2MQ-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0853f3bd-b4a0-4c59-8370-60a5bd58ba85 860a8640-e651-4e9d-b4f0-d1dd589628ce g.chr14:91805692C>T uc010aty.3 - 7 893 c.739G>A c.(739-741)Gaa>Aaa p.E247K CCDC88C_uc010twk.1_Missense_Mutation_p.E211K NM_001080414 NP_001073883 Q9P219 DAPLE_HUMAN Homo sapiens coiled-coil domain containing 88C (CCDC88C), mRNA. 247 Wnt receptor signaling pathway|microtubule cytoskeleton organization|protein destabilization|protein homooligomerization|regulation of protein phosphorylation cytoplasm|insoluble fraction PDZ domain binding|microtubule binding|protein self-association central_nervous_system(3)|endometrium(2)|kidney(3)|large_intestine(2)|lung(6)|ovary(6)|pancreas(1)|urinary_tract(1) 24 all_cancers(154;0.0468) TGCTTGTCTTCGCTAGAGAGG 0.652000 9 19 0 0 0.000295444 0 0 CCDC141 285025 broad.mit.edu 37 2 179718295 179718295 + Silent SNP G A A TCGA-EE-A2MQ-06A-11D-A197-08 TCGA-EE-A2MQ-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0853f3bd-b4a0-4c59-8370-60a5bd58ba85 860a8640-e651-4e9d-b4f0-d1dd589628ce g.chr2:179718295G>A uc002une.2 - 19 3235 c.3117C>T c.(3115-3117)tcC>tcT p.S1039S CCDC141_uc002unf.1_Silent_p.S518S NM_173648 NP_775919 Q6ZP82 CC141_HUMAN Homo sapiens coiled-coil domain containing 141 (CCDC141), mRNA. 464 protein binding NS(2)|breast(1)|endometrium(5)|kidney(1)|large_intestine(17)|lung(37)|ovary(8)|pancreas(2)|skin(4)|upper_aerodigestive_tract(1) 78 OV - Ovarian serous cystadenocarcinoma(117;0.0274)|Epithelial(96;0.0531)|all cancers(119;0.147) TGCACTCTGTGGAATATTTTC 0.403000 46 35 0 0 0.000491102 0 0 COL14A1 7373 broad.mit.edu 37 8 121301973 121301973 + Nonsense_Mutation SNP C T T TCGA-EE-A2MQ-06A-11D-A197-08 TCGA-EE-A2MQ-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0853f3bd-b4a0-4c59-8370-60a5bd58ba85 860a8640-e651-4e9d-b4f0-d1dd589628ce g.chr8:121301973C>T uc003yox.3 + 33 4469 c.4204C>T c.(4204-4206)Cga>Tga p.R1402* COL14A1_uc003yoz.3_Nonsense_Mutation_p.R367* NM_021110 NP_066933 Q05707 COEA1_HUMAN Homo sapiens collagen, type XIV, alpha 1 (COL14A1), mRNA. 1402 Nonhelical region (NC4).|TSP N-terminal. cell-cell adhesion|collagen fibril organization collagen type XIV|extracellular space collagen binding|extracellular matrix structural constituent|protein binding, bridging p.R1402Q(2) NS(1)|autonomic_ganglia(1)|breast(11)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(9)|large_intestine(31)|lung(42)|ovary(5)|pancreas(1)|prostate(1)|skin(8)|stomach(2)|upper_aerodigestive_tract(2) 119 Lung NSC(37;6.52e-07)|Ovarian(258;0.00769)|Hepatocellular(40;0.161) OV - Ovarian serous cystadenocarcinoma(1;6.47e-38)|STAD - Stomach adenocarcinoma(47;0.00503) GAAAATGGTTCGATCAAGAGG 0.428000 42 22 0 0 0.000375601 0 0 RAG1 5896 broad.mit.edu 37 11 36597825 36597825 + Silent SNP C T T TCGA-EE-A2MQ-06A-11D-A197-08 TCGA-EE-A2MQ-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0853f3bd-b4a0-4c59-8370-60a5bd58ba85 860a8640-e651-4e9d-b4f0-d1dd589628ce g.chr11:36597825C>T uc021qgb.1 + 0 2971 c.2971C>T c.(2971-2973)Ctg>Ttg p.L991L RAG1_uc001mwt.3_Intron|RAG1_uc001mwu.4_Silent_p.L991L NM_000448 NP_000439 P15918 RAG1_HUMAN Homo sapiens recombination activating gene 1 (RAG1), mRNA. 991 T cell differentiation in thymus|V(D)J recombination|histone monoubiquitination|immune response|pre-B cell allelic exclusion|protein autoubiquitination nucleus endonuclease activity|histone binding|protein homodimerization activity|sequence-specific DNA binding|ubiquitin-protein ligase activity|zinc ion binding NS(1)|breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(14)|liver(1)|lung(33)|ovary(1)|pancreas(1)|prostate(1)|skin(5)|urinary_tract(1) 65 all_lung(20;0.226) all_hematologic(20;0.107) GGAAGATGTCCTGAAACACCA 0.453000 Familial Hemophagocytic Lymphohistiocytosis 48 28 0 0 0.000878237 0 0 PLB1 151056 broad.mit.edu 37 2 28843798 28843798 + Nonsense_Mutation SNP G A A TCGA-EE-A2MQ-06A-11D-A197-08 TCGA-EE-A2MQ-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0853f3bd-b4a0-4c59-8370-60a5bd58ba85 860a8640-e651-4e9d-b4f0-d1dd589628ce g.chr2:28843798G>A uc002rmb.2 + 48 3524 c.3480G>A c.(3478-3480)tgG>tgA p.W1160* PLB1_uc010ezj.2_Nonsense_Mutation_p.W1149*|PLB1_uc002rme.2_Nonsense_Mutation_p.W125* NM_153021 NP_694566 Q6P1J6 PLB1_HUMAN Homo sapiens phospholipase B1 (PLB1), transcript variant 1, mRNA. 1160 4 X 308-326 AA approximate repeats. lipid catabolic process|retinoid metabolic process|steroid metabolic process apical plasma membrane|integral to membrane lysophospholipase activity|phospholipase A2 activity|retinyl-palmitate esterase activity NS(2)|breast(1)|central_nervous_system(1)|endometrium(6)|kidney(2)|large_intestine(10)|lung(31)|ovary(6)|prostate(1)|skin(7)|stomach(2) 69 Acute lymphoblastic leukemia(172;0.155) CCAGCACCTGGGAGGGGACAG 0.562000 63 33 0 0 0.00111076 0 0 TTN 7273 broad.mit.edu 37 2 179583192 179583192 + Missense_Mutation SNP G A A TCGA-EE-A2MQ-06A-11D-A197-08 TCGA-EE-A2MQ-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0853f3bd-b4a0-4c59-8370-60a5bd58ba85 860a8640-e651-4e9d-b4f0-d1dd589628ce g.chr2:179583192G>A uc021vsy.1 - 81 21134 c.20909C>T c.(20908-20910)tCt>tTt p.S6970F TTN_uc021vsz.1_Intron|TTN_uc021vta.1_Intron|TTN_uc021vtb.1_Intron|TTN_uc002umz.1_Missense_Mutation_p.S3631F NM_133378 NP_596869 Q8WZ42 TITIN_HUMAN Homo sapiens titin (TTN), transcript variant N2-A, mRNA. 7897 Ig-like 51. 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) GCATCTCTCAGATTGTGAAAT 0.423000 29 21 0 0 0.000295444 0 0 CASR 846 broad.mit.edu 37 3 121973151 121973151 + Missense_Mutation SNP C T T rs121909262 TCGA-EE-A2MQ-06A-11D-A197-08 TCGA-EE-A2MQ-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0853f3bd-b4a0-4c59-8370-60a5bd58ba85 860a8640-e651-4e9d-b4f0-d1dd589628ce g.chr3:121973151C>T uc003eew.4 + 1 553 c.115C>T c.(115-117)Cct>Tct p.P39S CASR_uc003eev.4_Missense_Mutation_p.P39S NM_001178065 NP_001171536 P41180 CASR_HUMAN Homo sapiens calcium-sensing receptor (CASR), transcript variant 1, mRNA. 39 P -> A (in FHH). anatomical structure morphogenesis|calcium ion import|cellular calcium ion homeostasis|chemosensory behavior|detection of calcium ion|ossification integral to plasma membrane G-protein coupled receptor activity|phosphatidylinositol phospholipase C activity NS(1)|breast(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(13)|lung(45)|ovary(4)|prostate(3)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 84 GBM - Glioblastoma multiforme(114;0.226) Cinacalcet(DB01012) GGGGCTCTTTCCTATTCATTT 0.527000 50 34 0 0 0.000814825 0 0 SPHKAP 80309 broad.mit.edu 37 2 228884482 228884482 + Missense_Mutation SNP C T T TCGA-EE-A2MQ-06A-11D-A197-08 TCGA-EE-A2MQ-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0853f3bd-b4a0-4c59-8370-60a5bd58ba85 860a8640-e651-4e9d-b4f0-d1dd589628ce g.chr2:228884482C>T uc002vpq.2 - 6 1135 c.1088G>A c.(1087-1089)aGa>aAa p.R363K SPHKAP_uc002vpp.2_Missense_Mutation_p.R363K|SPHKAP_uc010zlx.1_Missense_Mutation_p.R363K NM_001142644 NP_001136116 Q2M3C7 SPKAP_HUMAN Homo sapiens SPHK1 interactor, AKAP domain containing (SPHKAP), transcript variant 1, mRNA. 363 cytoplasm protein binding NS(5)|breast(5)|central_nervous_system(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(3)|kidney(12)|large_intestine(25)|lung(86)|ovary(6)|pancreas(1)|prostate(6)|skin(17)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1) 185 Renal(207;0.025)|all_hematologic(139;0.15)|all_lung(227;0.204)|Acute lymphoblastic leukemia(138;0.205)|Esophageal squamous(248;0.23) Epithelial(121;8.17e-11)|all cancers(144;7.92e-08)|Lung(261;0.0168)|LUSC - Lung squamous cell carcinoma(224;0.0232) TAGGTTGCTTCTCTGCTCTGC 0.438000 46 28 0 0 0.000409698 0 0 P2RX3 5024 broad.mit.edu 37 11 57137455 57137455 + Silent SNP C T T TCGA-EE-A2MQ-06A-11D-A197-08 TCGA-EE-A2MQ-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0853f3bd-b4a0-4c59-8370-60a5bd58ba85 860a8640-e651-4e9d-b4f0-d1dd589628ce g.chr11:57137455C>T uc001nju.3 + 11 1363 c.1179C>T c.(1177-1179)ttC>ttT p.F393F NM_002559 NP_002550 P56373 P2RX3_HUMAN Homo sapiens purinergic receptor P2X, ligand-gated ion channel, 3 (P2RX3), mRNA. 393 positive regulation of calcium ion transport into cytosol|positive regulation of calcium-mediated signaling integral to plasma membrane ATP binding|extracellular ATP-gated cation channel activity|purinergic nucleotide receptor activity endometrium(4)|kidney(2)|large_intestine(4)|lung(15)|prostate(1) 26 CGGGGGCCTTCTCCATAGGCC 0.612000 9 14 0 0 0.000219431 0 0 CFTR 1080 broad.mit.edu 37 7 117188775 117188775 + Silent SNP C T T TCGA-EE-A2MQ-06A-11D-A197-08 TCGA-EE-A2MQ-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0853f3bd-b4a0-4c59-8370-60a5bd58ba85 860a8640-e651-4e9d-b4f0-d1dd589628ce g.chr7:117188775C>T uc003vjd.3 + 9 1422 c.1290C>T c.(1288-1290)ttC>ttT p.F430F CFTR_uc011knq.2_5'UTR NM_000492 NP_000483 P13569 CFTR_HUMAN Homo sapiens cystic fibrosis transmembrane conductance regulator (ATP-binding cassette sub-family C, member 7) (CFTR), mRNA. 430 ABC transporter 1. respiratory gaseous exchange apical plasma membrane|basolateral plasma membrane|chloride channel complex|early endosome membrane ATP binding|ATP-binding and phosphorylation-dependent chloride channel activity|PDZ domain binding|channel-conductance-controlling ATPase activity|chloride channel regulator activity|enzyme binding NS(1)|breast(2)|central_nervous_system(2)|cervix(1)|endometrium(5)|kidney(6)|large_intestine(15)|lung(22)|ovary(2)|pancreas(1)|prostate(3)|skin(9) 69 Lung NSC(10;0.00148)|all_lung(10;0.00171) STAD - Stomach adenocarcinoma(10;0.000534) Bumetanide(DB00887)|Glibenclamide(DB01016) GCCTCTTCTTCAGTAATTTCT 0.378000 Cystic Fibrosis 6 17 0 0 0.000566183 0 0 MTM1 4534 broad.mit.edu 37 X 149814235 149814235 + Missense_Mutation SNP G A A TCGA-EE-A2MQ-06A-11D-A197-08 TCGA-EE-A2MQ-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0853f3bd-b4a0-4c59-8370-60a5bd58ba85 860a8640-e651-4e9d-b4f0-d1dd589628ce g.chrX:149814235G>A uc004fef.4 + 8 834 c.758G>A c.(757-759)cGa>cAa p.R253Q MTM1_uc011mxx.2_Non-coding_Transcript|MTM1_uc011mxy.2_Missense_Mutation_p.R216Q|MTM1_uc011mxz.2_Missense_Mutation_p.R138Q|MTM1_uc010nte.3_Missense_Mutation_p.R121Q NM_000252 NP_000243 Q13496 MTM1_HUMAN Homo sapiens myotubularin 1 (MTM1), mRNA. 253 Myotubularin phosphatase. endosome to lysosome transport|intermediate filament organization|mitochondrion distribution|mitochondrion morphogenesis|phosphatidylinositol dephosphorylation|protein transport|regulation of vacuole organization filopodium|late endosome|plasma membrane|ruffle intermediate filament binding|phosphatidylinositol binding|phosphatidylinositol-3,5-bisphosphate 3-phosphatase activity|phosphatidylinositol-3-phosphatase activity|protein tyrosine phosphatase activity breast(2)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(4)|liver(1)|lung(10)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 26 Acute lymphoblastic leukemia(192;6.56e-05) AGTGGGAAACGAAATAAAGAT 0.398000 71 33 0 0 0.000491102 0 0 BMPER 168667 broad.mit.edu 37 7 34125516 34125516 + Silent SNP G A A TCGA-EE-A2MQ-06A-11D-A197-08 TCGA-EE-A2MQ-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0853f3bd-b4a0-4c59-8370-60a5bd58ba85 860a8640-e651-4e9d-b4f0-d1dd589628ce g.chr7:34125516G>A uc011kap.2 + 13 1931 c.1557G>A c.(1555-1557)gtG>gtA p.V519V NM_133468 NP_597725 Q8N8U9 BMPER_HUMAN Homo sapiens BMP binding endothelial regulator (BMPER), mRNA. 519 VWFD. blood vessel endothelial cell proliferation involved in sprouting angiogenesis|endothelial cell activation|negative regulation of BMP signaling pathway|positive regulation of ERK1 and ERK2 cascade|regulation of endothelial cell migration|regulation of pathway-restricted SMAD protein phosphorylation extracellular space p.D518H(1) breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(7)|lung(24)|ovary(3)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2) 48 AGTTTGATGTGGATGACTTTG 0.473000 47 60 0 0 0.000781405 0 0 ICK 22858 broad.mit.edu 37 6 52876951 52876951 + Silent SNP G T T TCGA-EE-A2MQ-06A-11D-A197-08 TCGA-EE-A2MQ-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0853f3bd-b4a0-4c59-8370-60a5bd58ba85 860a8640-e651-4e9d-b4f0-d1dd589628ce g.chr6:52876951G>T uc003pbh.2 - 10 1717 c.1227C>A c.(1225-1227)tcC>tcA p.S409S ICK_uc003pbi.2_Silent_p.S409S NM_016513 NP_057597 Q9UPZ9 ICK_HUMAN Homo sapiens intestinal cell (MAK-like) kinase (ICK), transcript variant 2, mRNA. 409 intracellular protein kinase cascade|multicellular organismal development cytosol|nucleus ATP binding|cyclin-dependent protein kinase activity|magnesium ion binding breast(1)|central_nervous_system(2)|endometrium(4)|kidney(2)|large_intestine(6)|lung(10)|ovary(1)|prostate(1)|skin(3)|stomach(1) 31 Lung NSC(77;0.103) TTGTTGACCTGGAAATAAGAC 0.458000 45 27 1.16021e-09 1.02496e-08 0.00127121 1 0 SGK223 157285 broad.mit.edu 37 8 8235486 8235486 + Missense_Mutation SNP G A A TCGA-EE-A2MQ-06A-11D-A197-08 TCGA-EE-A2MQ-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0853f3bd-b4a0-4c59-8370-60a5bd58ba85 860a8640-e651-4e9d-b4f0-d1dd589628ce g.chr8:8235486G>A uc003wsh.4 - 1 433 c.433C>T c.(433-435)Ccc>Tcc p.P145S NM_001080826 NP_001074295 Q86YV5 SG223_HUMAN Homo sapiens homolog of rat pragma of Rnd2 (SGK223), mRNA. 145 ATP binding|non-membrane spanning protein tyrosine kinase activity GAGGTAGAGGGACCAGCAGGC 0.632000 51 41 0 0 0.00170553 0 0 PITPNM1 9600 broad.mit.edu 37 11 67270001 67270001 + Nonsense_Mutation SNP C T T TCGA-EE-A2MQ-06A-11D-A197-08 TCGA-EE-A2MQ-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0853f3bd-b4a0-4c59-8370-60a5bd58ba85 860a8640-e651-4e9d-b4f0-d1dd589628ce g.chr11:67270001C>T uc001olx.3 - 1 456 c.267G>A c.(265-267)tgG>tgA p.W89* PITPNM1_uc001oly.3_Nonsense_Mutation_p.W89*|PITPNM1_uc001olz.3_Nonsense_Mutation_p.W89* NM_004910 NP_004901 O00562 PITM1_HUMAN Homo sapiens phosphatidylinositol transfer protein, membrane-associated 1 (PITPNM1), transcript variant 1, mRNA. 89 brain development|lipid metabolic process|phototransduction|protein transport Golgi cisterna membrane|cleavage furrow|endoplasmic reticulum membrane|lipid particle|membrane fraction|midbody metal ion binding|phosphatidylinositol transporter activity breast(2)|central_nervous_system(1)|endometrium(3)|kidney(2)|liver(1)|lung(4)|ovary(1)|prostate(1)|skin(3) 18 GGTAGGCATTCCAGGATTCCT 0.642000 30 25 0 0 0.000586117 0 0 GOLGA3 2802 broad.mit.edu 37 12 133372444 133372444 + Silent SNP G A A TCGA-EE-A2MQ-06A-11D-A197-08 TCGA-EE-A2MQ-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0853f3bd-b4a0-4c59-8370-60a5bd58ba85 860a8640-e651-4e9d-b4f0-d1dd589628ce g.chr12:133372444G>A uc001ukz.1 - 10 3022 c.2463C>T c.(2461-2463)tcC>tcT p.S821S GOLGA3_uc021rgt.1_Non-coding_Transcript|GOLGA3_uc001ula.1_Silent_p.S821S|GOLGA3_uc001ulb.3_Silent_p.S821S NM_005895 NP_005886 Q08378 GOGA3_HUMAN Homo sapiens golgin A3 (GOLGA3), transcript variant 1, mRNA. 821 intra-Golgi vesicle-mediated transport Golgi cisterna membrane|Golgi transport complex protein binding|transporter activity breast(1)|central_nervous_system(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(4)|lung(33)|ovary(3)|pancreas(1)|prostate(4)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1) 64 all_neural(191;0.0982)|Medulloblastoma(191;0.163) all_epithelial(31;0.0176)|Lung NSC(355;0.204) OV - Ovarian serous cystadenocarcinoma(86;2.27e-08)|Epithelial(86;3.34e-07)|all cancers(50;9.4e-06) TTACCTGGCCGGATTTGATAG 0.413000 47 41 0 0 0.000781405 0 0 KLHL38 340359 broad.mit.edu 37 8 124664570 124664570 + Silent SNP G A A TCGA-EE-A2MQ-06A-11D-A197-08 TCGA-EE-A2MQ-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0853f3bd-b4a0-4c59-8370-60a5bd58ba85 860a8640-e651-4e9d-b4f0-d1dd589628ce g.chr8:124664570G>A uc003yqs.1 - 0 621 c.597C>T c.(595-597)gcC>gcT p.A199A NM_001081675 NP_001075144 Q2WGJ6 KLH38_HUMAN Homo sapiens kelch-like 38 (Drosophila) (KLHL38), mRNA. 199 BACK. breast(1)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(9)|lung(16)|pancreas(1)|prostate(3)|stomach(1) 38 AAACCATGAGGGCCTCAAACA 0.567000 41 23 0 0 0.000720815 0 0 KATNAL2 83473 broad.mit.edu 37 18 44580798 44580798 + Silent SNP G A A TCGA-EE-A2MQ-06A-11D-A197-08 TCGA-EE-A2MQ-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0853f3bd-b4a0-4c59-8370-60a5bd58ba85 860a8640-e651-4e9d-b4f0-d1dd589628ce g.chr18:44580798G>A uc002lco.3 + 2 299 c.105G>A c.(103-105)ggG>ggA p.G35G KATNAL2_uc010dnq.1_Intron NM_031303 NP_112593 Q8IYT4 KATL2_HUMAN Homo sapiens katanin p60 subunit A-like 2 (KATNAL2), mRNA. 107 LisH. cytoplasm|microtubule ATP binding|microtubule-severing ATPase activity central_nervous_system(2)|endometrium(3)|large_intestine(8)|lung(8)|ovary(1)|pancreas(1)|skin(1)|stomach(1)|urinary_tract(2) 27 GAAGTAGAGGGAAGACCAGAA 0.398000 52 82 0 0 0.000781405 0 0 SLCO6A1 133482 broad.mit.edu 37 5 101834325 101834325 + Missense_Mutation SNP G A A TCGA-EE-A2MQ-06A-11D-A197-08 TCGA-EE-A2MQ-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0853f3bd-b4a0-4c59-8370-60a5bd58ba85 860a8640-e651-4e9d-b4f0-d1dd589628ce g.chr5:101834325G>A uc003knn.3 - 0 396 c.224C>T c.(223-225)tCc>tTc p.S75F SLCO6A1_uc003kno.3_Missense_Mutation_p.S75F|SLCO6A1_uc003knp.3_Missense_Mutation_p.S75F|SLCO6A1_uc003knq.3_Missense_Mutation_p.S75F NM_173488 NP_775759 Q86UG4 SO6A1_HUMAN Homo sapiens solute carrier organic anion transporter family, member 6A1 (SLCO6A1), mRNA. 75 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) CGGCTTCTTGGAAACTGAGGA 0.507000 66 56 0 0 0.000781405 0 0 DENND1C 79958 broad.mit.edu 37 19 6479052 6479052 + Silent SNP G A A TCGA-EE-A2MQ-06A-11D-A197-08 TCGA-EE-A2MQ-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0853f3bd-b4a0-4c59-8370-60a5bd58ba85 860a8640-e651-4e9d-b4f0-d1dd589628ce g.chr19:6479052G>A uc002mfe.3 - 4 284 c.192C>T c.(190-192)ccC>ccT p.P64P DENND1C_uc002mfb.3_5'Flank|DENND1C_uc002mfc.3_5'Flank|DENND1C_uc002mfd.3_5'UTR|DENND1C_uc010xje.2_Silent_p.P20P NM_024898 NP_079174 Q8IV53 DEN1C_HUMAN Homo sapiens DENN/MADD domain containing 1C (DENND1C), mRNA. 64 UDENN. clathrin-coated vesicle|cytosol guanyl-nucleotide exchange factor activity endometrium(3)|kidney(3)|large_intestine(1)|lung(3) 10 GCTGCACGGCGGGGCTGGGGG 0.637000 60 35 0 0 0.00058488 0 0 TYK2 7297 broad.mit.edu 37 19 10463201 10463201 + Missense_Mutation SNP T C C TCGA-EE-A2MQ-06A-11D-A197-08 TCGA-EE-A2MQ-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0853f3bd-b4a0-4c59-8370-60a5bd58ba85 860a8640-e651-4e9d-b4f0-d1dd589628ce g.chr19:10463201T>C uc002moc.4 - 22 3605 c.3227A>G c.(3226-3228)tAt>tGt p.Y1076C TYK2_uc010dxe.3_Missense_Mutation_p.Y891C NM_003331 NP_003322 P29597 TYK2_HUMAN Homo sapiens tyrosine kinase 2 (TYK2), mRNA. 1076 Protein kinase 2. intracellular protein kinase cascade|regulation of type I interferon-mediated signaling pathway|type I interferon-mediated signaling pathway cytoskeleton|cytosol|membrane|nucleus ATP binding|growth hormone receptor binding|non-membrane spanning protein tyrosine kinase activity breast(1)|central_nervous_system(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(11)|kidney(6)|large_intestine(3)|lung(19)|ovary(4)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2) 64 OV - Ovarian serous cystadenocarcinoma(20;1.77e-09)|Epithelial(33;3.92e-06)|all cancers(31;8.95e-06) GTAGAACTTATACTCCTTCAG 0.627000 51 39 0 0 0.00170553 0 0 TNNC1 7134 broad.mit.edu 37 3 52485804 52485804 + Silent SNP C T T TCGA-EE-A2MQ-06A-11D-A197-08 TCGA-EE-A2MQ-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0853f3bd-b4a0-4c59-8370-60a5bd58ba85 860a8640-e651-4e9d-b4f0-d1dd589628ce g.chr3:52485804C>T uc003deb.3 - 3 299 c.273G>A c.(271-273)ggG>ggA p.G91G NM_003280 NP_003271 P63316 TNNC1_HUMAN Homo sapiens troponin C type 1 (slow) (TNNC1), mRNA. 91 cardiac muscle contraction|muscle filament sliding|regulation of ATPase activity|regulation of muscle filament sliding speed|ventricular cardiac muscle tissue morphogenesis cytosol|troponin complex actin filament binding|calcium ion binding|calcium-dependent protein binding|protein homodimerization activity|troponin I binding|troponin T binding p.G91W(1) endometrium(1)|lung(3)|ovary(1)|skin(1) 6 BRCA - Breast invasive adenocarcinoma(193;1.69e-05)|Kidney(197;0.00175)|KIRC - Kidney renal clear cell carcinoma(197;0.00198)|OV - Ovarian serous cystadenocarcinoma(275;0.0525) Bepridil(DB01244)|Dihydroxyaluminium(DB01375)|Levosimendan(DB00922) CCTCAGATTTCCCTTTGCTGT 0.567000 49 27 0 0 0.000409698 0 0 SEMA5B 54437 broad.mit.edu 37 3 122646720 122646720 + Missense_Mutation SNP G A A TCGA-EE-A2MQ-06A-11D-A197-08 TCGA-EE-A2MQ-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0853f3bd-b4a0-4c59-8370-60a5bd58ba85 860a8640-e651-4e9d-b4f0-d1dd589628ce g.chr3:122646720G>A uc003efz.1 - 7 1071 c.767C>T c.(766-768)tCa>tTa p.S256L SEMA5B_uc011bju.1_Missense_Mutation_p.S198L|SEMA5B_uc003ega.1_Non-coding_Transcript|SEMA5B_uc003egb.1_Missense_Mutation_p.S256L|SEMA5B_uc010hro.1_Missense_Mutation_p.S198L|SEMA5B_uc010hrp.1_Non-coding_Transcript NM_001031702 NP_001026872 Q9P283 SEM5B_HUMAN Homo sapiens sema domain, seven thrombospondin repeats (type 1 and type 1-like), transmembrane domain (TM) and short cytoplasmic domain, (semaphorin) 5B (SEMA5B), transcript variant 1, mRNA. 256 Sema. cell differentiation|nervous system development integral to membrane receptor activity breast(2)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(13)|lung(26)|ovary(2)|pancreas(3)|skin(2)|upper_aerodigestive_tract(3) 55 GBM - Glioblastoma multiforme(114;0.0367) GTCCCGACCTGAGAAGTCGAT 0.607000 43 20 0 0 0.00152264 0 0 SLC39A7 7922 broad.mit.edu 37 6 33169319 33169319 + Silent SNP G A A TCGA-EE-A2MQ-06A-11D-A197-08 TCGA-EE-A2MQ-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0853f3bd-b4a0-4c59-8370-60a5bd58ba85 860a8640-e651-4e9d-b4f0-d1dd589628ce g.chr6:33169319G>A uc003odf.3 + 1 414 c.297G>A c.(295-297)gaG>gaA p.E99E RXRB_uc003odb.3_5'Flank|RXRB_uc003odc.3_5'Flank|RXRB_uc011dqr.2_5'Flank|RXRB_uc011dqs.1_5'Flank|RXRB_uc003ode.1_5'Flank|RXRB_uc011dqt.1_5'Flank|RXRB_uc011dqu.1_5'Flank|SLC39A7_uc003odg.3_Silent_p.E99E|SLC39A7_uc011dqv.2_Intron NM_001077516 NP_008910 Q92504 S39A7_HUMAN Homo sapiens solute carrier family 39 (zinc transporter), member 7 (SLC39A7), transcript variant 2, mRNA. 99 His-rich. endoplasmic reticulum membrane|integral to membrane|membrane fraction protein binding|zinc ion transmembrane transporter activity NS(1)|breast(3)|endometrium(2)|large_intestine(5)|lung(4)|upper_aerodigestive_tract(2)|urinary_tract(1) 18 ACTCCCATGAGAGCCTCTACC 0.542000 37 66 0 0 0.000781405 0 0 ATP2B3 492 broad.mit.edu 37 X 152815551 152815551 + Missense_Mutation SNP G A A TCGA-EE-A2MQ-06A-11D-A197-08 TCGA-EE-A2MQ-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0853f3bd-b4a0-4c59-8370-60a5bd58ba85 860a8640-e651-4e9d-b4f0-d1dd589628ce g.chrX:152815551G>A uc004fht.1 + 9 1756 c.1630G>A c.(1630-1632)Gag>Aag p.E544K ATP2B3_uc004fhs.1_Missense_Mutation_p.E544K NM_001001344 NP_001001344 Q16720 AT2B3_HUMAN Homo sapiens ATPase, Ca++ transporting, plasma membrane 3 (ATP2B3), transcript variant 2, mRNA. 544 ATP biosynthetic process|platelet activation integral to membrane|plasma membrane ATP binding|calcium-transporting ATPase activity|calmodulin binding|metal ion binding p.T543M(1) NS(2)|breast(5)|endometrium(7)|large_intestine(8)|lung(23)|ovary(1)|pancreas(1)|skin(3) 50 all_hematologic(71;4.25e-06)|Acute lymphoblastic leukemia(192;6.56e-05) CAATAAGACGGAGTGCGCCCT 0.612000 20 12 0 0 0.000978159 0 0 OR5F1 338674 broad.mit.edu 37 11 55761196 55761196 + Silent SNP C T T TCGA-EE-A2MQ-06A-11D-A197-08 TCGA-EE-A2MQ-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0853f3bd-b4a0-4c59-8370-60a5bd58ba85 860a8640-e651-4e9d-b4f0-d1dd589628ce g.chr11:55761196C>T uc010riv.2 - 0 906 c.906G>A c.(904-906)gcG>gcA p.A302A NM_003697 NP_003688 O95221 OR5F1_HUMAN Homo sapiens olfactory receptor, family 5, subfamily F, member 1 (OR5F1), mRNA. 302 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity endometrium(6)|kidney(1)|large_intestine(11)|liver(1)|lung(33)|ovary(2)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1) 58 Esophageal squamous(21;0.00448) TAATTACATTCGCTAAAGCCT 0.383000 29 10 0 0 0.000978159 0 0 GH2 2689 broad.mit.edu 37 17 61958244 61958244 + Missense_Mutation SNP G A A TCGA-EE-A2MQ-06A-11D-A197-08 TCGA-EE-A2MQ-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0853f3bd-b4a0-4c59-8370-60a5bd58ba85 860a8640-e651-4e9d-b4f0-d1dd589628ce g.chr17:61958244G>A uc002jcl.1 - 3 406 c.344C>T c.(343-345)cCc>cTc p.P115L GH2_uc002jcn.1_Missense_Mutation_p.P100L|GH2_uc002jco.1_Missense_Mutation_p.P115L|GH2_uc002jcm.1_Missense_Mutation_p.P115L NM_022557 NP_072051 P01242 SOM2_HUMAN Homo sapiens growth hormone 2 (GH2), transcript variant 2, mRNA. 115 extracellular region hormone activity breast(3)|large_intestine(3)|lung(14)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(2) 24 GAGCTGCACGGGCTCCAGCCA 0.632000 9 18 0 0 0.00074312 0 0 TRHDE 29953 broad.mit.edu 37 12 72969158 72969159 + Missense_Mutation DNP GG AA AA TCGA-EE-A2MQ-06A-11D-A197-08 TCGA-EE-A2MQ-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0853f3bd-b4a0-4c59-8370-60a5bd58ba85 860a8640-e651-4e9d-b4f0-d1dd589628ce g.chr12:72969158_72969159GG>AA uc001sxa.3 + 10 2150_2151 c.2120_2121GG>AA c.(2119-2121)cgg>cAA p.R707Q NM_013381 NP_037513 Q9UKU6 TRHDE_HUMAN Homo sapiens thyrotropin-releasing hormone degrading enzyme (TRHDE), mRNA. 707 cell-cell signaling|proteolysis|signal transduction integral to plasma membrane aminopeptidase activity|metallopeptidase activity|zinc ion binding p.R707W(1) NS(1)|autonomic_ganglia(1)|breast(2)|endometrium(8)|kidney(3)|large_intestine(13)|lung(38)|ovary(2)|skin(4)|soft_tissue(1)|upper_aerodigestive_tract(3)|urinary_tract(3) 79 CAATTAATCCGGAATCATGAGG 0.342000 34 20 0 0 6.4e-05 0 0 SIGLEC11 114132 broad.mit.edu 37 19 50461731 50461731 + Nonsense_Mutation SNP C T T TCGA-EE-A2MQ-06A-11D-A197-08 TCGA-EE-A2MQ-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0853f3bd-b4a0-4c59-8370-60a5bd58ba85 860a8640-e651-4e9d-b4f0-d1dd589628ce g.chr19:50461731C>T uc010ybh.2 - 7 1551 c.1460G>A c.(1459-1461)tGg>tAg p.W487* SIGLEC11_uc010ybi.2_Intron NM_052884 NP_443116 Q96RL6 SIG11_HUMAN Homo sapiens sialic acid binding Ig-like lectin 11 (SIGLEC11), transcript variant 1, mRNA. 487 cell adhesion integral to membrane sugar binding breast(1)|central_nervous_system(2)|endometrium(2)|kidney(1)|large_intestine(8)|lung(9)|ovary(6)|pancreas(1)|prostate(1)|skin(1) 32 all_lung(116;0.00318)|all_neural(266;0.107)|Ovarian(192;0.17) GBM - Glioblastoma multiforme(134;0.00107)|OV - Ovarian serous cystadenocarcinoma(262;0.00517) CCCAAGCCACCAGCGCAGAGA 0.701000 5 9 0 0 0.000978159 0 0 MUC16 94025 broad.mit.edu 37 19 9057805 9057805 + Missense_Mutation SNP C T T TCGA-EE-A2MQ-06A-11D-A197-08 TCGA-EE-A2MQ-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0853f3bd-b4a0-4c59-8370-60a5bd58ba85 860a8640-e651-4e9d-b4f0-d1dd589628ce g.chr19:9057805C>T uc002mkp.3 - 2 29845 c.29641G>A c.(29641-29643)Gag>Aag p.E9881K NM_024690 NP_078966 Q8WXI7 MUC16_HUMAN Homo sapiens mucin 16, cell surface associated (MUC16), mRNA. 9883 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 GTGCTAGTCTCCCTGAATCCA 0.478000 49 27 0 0 0.000878237 0 0 DNAH5 1767 broad.mit.edu 37 5 13885252 13885252 + Silent SNP C T T TCGA-EE-A2MQ-06A-11D-A197-08 TCGA-EE-A2MQ-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0853f3bd-b4a0-4c59-8370-60a5bd58ba85 860a8640-e651-4e9d-b4f0-d1dd589628ce g.chr5:13885252C>T uc003jfd.2 - 18 2871 c.2829G>A c.(2827-2829)agG>agA p.R943R NM_001369 NP_001360 Q8TE73 DYH5_HUMAN Homo sapiens dynein, axonemal, heavy chain 5 (DNAH5), mRNA. 943 Stem (By similarity). microtubule-based movement cilium axoneme|cytoplasm|microtubule ATP binding|ATPase activity|microtubule motor activity NS(6)|breast(14)|central_nervous_system(4)|cervix(2)|endometrium(23)|haematopoietic_and_lymphoid_tissue(8)|kidney(11)|large_intestine(85)|liver(1)|lung(129)|ovary(16)|pancreas(2)|prostate(5)|skin(48)|stomach(5)|upper_aerodigestive_tract(11)|urinary_tract(8) 378 Lung NSC(4;0.00476) CTTTCTTTTTCCTCGTGACTG 0.413000 Kartagener syndrome 17 21 0 0 0.00047179 0 0 HEPHL1 341208 broad.mit.edu 37 11 93844973 93844973 + Silent SNP G A A TCGA-EE-A2MQ-06A-11D-A197-08 TCGA-EE-A2MQ-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0853f3bd-b4a0-4c59-8370-60a5bd58ba85 860a8640-e651-4e9d-b4f0-d1dd589628ce g.chr11:93844973G>A uc001pep.2 + 19 3550 c.3393G>A c.(3391-3393)gtG>gtA p.V1131V AF086184_uc001pen.1_Intron NM_001098672 NP_001092142 Q6MZM0 HPHL1_HUMAN Homo sapiens hephaestin-like 1 (HEPHL1), mRNA. 1131 copper ion transport integral to membrane copper ion binding|oxidoreductase activity p.L1130P(1) NS(2)|breast(4)|central_nervous_system(1)|endometrium(5)|kidney(2)|large_intestine(11)|lung(25)|ovary(3)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(3) 61 Acute lymphoblastic leukemia(157;2.34e-05)|all_hematologic(158;0.00824) TCACCACGGTGATTCTCTCCC 0.512000 97 68 0 0 0.000781405 0 0 MTUS2 23281 broad.mit.edu 37 13 29600817 29600817 + Missense_Mutation SNP C T T TCGA-EE-A2MQ-06A-11D-A197-08 TCGA-EE-A2MQ-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0853f3bd-b4a0-4c59-8370-60a5bd58ba85 860a8640-e651-4e9d-b4f0-d1dd589628ce g.chr13:29600817C>T uc001usl.4 + 0 2070 c.2012C>T c.(2011-2013)tCg>tTg p.S671L NM_001033602 NP_001028774 Q5JR59 MTUS2_HUMAN Homo sapiens microtubule associated tumor suppressor candidate 2 (MTUS2), transcript variant 1, mRNA. 661 Mediates interaction with MAPRE1. cytoplasm|microtubule microtubule binding|protein homodimerization activity NS(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(3)|prostate(1)|skin(1) 20 GTGGACGCCTCGCTGGTTCCA 0.587000 13 8 0 0 0.000157383 0 0 SHPRH 257218 broad.mit.edu 37 6 146276122 146276122 + Missense_Mutation SNP T C C TCGA-EE-A2MQ-06A-11D-A197-08 TCGA-EE-A2MQ-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0853f3bd-b4a0-4c59-8370-60a5bd58ba85 860a8640-e651-4e9d-b4f0-d1dd589628ce g.chr6:146276122T>C uc003qlf.3 - 1 736 c.337A>G c.(337-339)Aaa>Gaa p.K113E SHPRH_uc003qle.3_Missense_Mutation_p.K113E|SHPRH_uc003qlg.1_5'UTR|SHPRH_uc003qlj.1_Intron NM_001042683 NP_001036148 Q149N8 SHPRH_HUMAN Homo sapiens SNF2 histone linker PHD RING helicase (SHPRH), transcript variant 1, mRNA. 113 DNA repair|nucleosome assembly nucleosome|nucleus ATP binding|DNA binding|helicase activity|ligase activity|zinc ion binding breast(2)|central_nervous_system(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(15)|lung(33)|ovary(3)|pancreas(2)|prostate(7)|skin(1)|urinary_tract(1) 79 Ovarian(120;0.0365) OV - Ovarian serous cystadenocarcinoma(155;1.47e-07)|GBM - Glioblastoma multiforme(68;0.0124) AGAAATGCTTTCCAGGAATTA 0.333000 59 32 0 0 0.00178596 0 0 GOLGB1 2804 broad.mit.edu 37 3 121416568 121416568 + Missense_Mutation SNP C G G TCGA-EE-A2MQ-06A-11D-A197-08 TCGA-EE-A2MQ-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0853f3bd-b4a0-4c59-8370-60a5bd58ba85 860a8640-e651-4e9d-b4f0-d1dd589628ce g.chr3:121416568C>G uc010hrc.3 - 12 2928 c.2802G>C c.(2800-2802)aaG>aaC p.K934N GOLGB1_uc003eei.4_Missense_Mutation_p.K929N|GOLGB1_uc003eej.4_Missense_Mutation_p.K895N|GOLGB1_uc021xcy.1_Missense_Mutation_p.K854N|GOLGB1_uc011bjm.1_Missense_Mutation_p.K815N|GOLGB1_uc010hrd.1_Missense_Mutation_p.K893N NM_004487 NP_004478 Q14789 GOGB1_HUMAN Homo sapiens golgin B1 (GOLGB1), mRNA. 929 Golgi organization ER-Golgi intermediate compartment|Golgi membrane|Golgi stack|integral to membrane protein binding NS(1)|autonomic_ganglia(1)|breast(7)|central_nervous_system(2)|cervix(2)|endometrium(12)|kidney(3)|large_intestine(26)|liver(2)|lung(36)|ovary(7)|prostate(4)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(13) 119 GBM - Glioblastoma multiforme(114;0.0989) CTTTAAGAGTCTTAATTTCAA 0.358000 58 35 0 0 0.00128727 0 0 NXF3 56000 broad.mit.edu 37 X 102339344 102339344 + Missense_Mutation SNP C T T TCGA-EE-A2MQ-06A-11D-A197-08 TCGA-EE-A2MQ-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0853f3bd-b4a0-4c59-8370-60a5bd58ba85 860a8640-e651-4e9d-b4f0-d1dd589628ce g.chrX:102339344C>T uc004eju.3 - 2 348 c.277G>A c.(277-279)Gag>Aag p.E93K NXF3_uc010noi.1_5'Flank|NXF3_uc011mrw.1_Missense_Mutation_p.E93K|NXF3_uc011mrx.1_Missense_Mutation_p.E4K NM_022052 NP_071335 Q9H4D5 NXF3_HUMAN Homo sapiens nuclear RNA export factor 3 (NXF3), mRNA. 93 cytoplasm|nuclear RNA export factor complex nucleocytoplasmic transporter activity|nucleotide binding|protein binding NS(1)|central_nervous_system(1)|cervix(1)|kidney(1)|large_intestine(2)|lung(15)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1) 26 GGTTTTTGCTCTCTCTCCATG 0.473000 71 43 0 0 0.000589545 0 0 OR2T12 127064 broad.mit.edu 37 1 248458252 248458252 + Missense_Mutation SNP G A A TCGA-EE-A2MQ-06A-11D-A197-08 TCGA-EE-A2MQ-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0853f3bd-b4a0-4c59-8370-60a5bd58ba85 860a8640-e651-4e9d-b4f0-d1dd589628ce g.chr1:248458252G>A uc010pzj.2 - 0 629 c.629C>T c.(628-630)tCc>tTc p.S210F NM_001004692 NP_001004692 Q8NG77 O2T12_HUMAN Homo sapiens olfactory receptor, family 2, subfamily T, member 12 (OR2T12), mRNA. 210 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity p.F209L(1) endometrium(4)|kidney(3)|large_intestine(3)|lung(25)|ovary(1)|pancreas(1)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1) 43 all_cancers(71;0.000108)|all_epithelial(71;1.03e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136) OV - Ovarian serous cystadenocarcinoma(106;0.0201) CAGGATGAGGGAAAAGGGGAC 0.547000 64 11 0 0 0.000219431 0 0 NLRP10 338322 broad.mit.edu 37 11 7984813 7984813 + Missense_Mutation SNP C T T TCGA-EE-A2MQ-06A-11D-A197-08 TCGA-EE-A2MQ-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0853f3bd-b4a0-4c59-8370-60a5bd58ba85 860a8640-e651-4e9d-b4f0-d1dd589628ce g.chr11:7984813C>T uc001mfv.1 - 0 247 c.230G>A c.(229-231)gGc>gAc p.G77D NM_176821 NP_789791 Q86W26 NAL10_HUMAN Homo sapiens NLR family, pyrin domain containing 10 (NLRP10), mRNA. 77 DAPIN. ATP binding breast(1)|endometrium(2)|kidney(2)|large_intestine(8)|liver(1)|lung(28)|ovary(2)|pancreas(1)|prostate(2)|skin(8)|upper_aerodigestive_tract(1)|urinary_tract(2) 58 Epithelial(150;1.47e-07)|BRCA - Breast invasive adenocarcinoma(625;0.189) GACCTTCAAGCCCTTGAGGAC 0.542000 48 16 0 0 0.000422831 0 0 KLHL38 340359 broad.mit.edu 37 8 124663820 124663820 + Silent SNP G A A TCGA-EE-A2MQ-06A-11D-A197-08 TCGA-EE-A2MQ-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0853f3bd-b4a0-4c59-8370-60a5bd58ba85 860a8640-e651-4e9d-b4f0-d1dd589628ce g.chr8:124663820G>A uc003yqs.1 - 0 1371 c.1347C>T c.(1345-1347)atC>atT p.I449I NM_001081675 NP_001075144 Q2WGJ6 KLH38_HUMAN Homo sapiens kelch-like 38 (Drosophila) (KLHL38), mRNA. 449 p.I449N(1) breast(1)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(9)|lung(16)|pancreas(1)|prostate(3)|stomach(1) 38 CATTTACCTGGATAAGGCGCA 0.532000 71 36 0 0 0.000509022 0 0 TET2 54790 broad.mit.edu 37 4 106157973 106157973 + Silent SNP G A A TCGA-EE-A2MQ-06A-11D-A197-08 TCGA-EE-A2MQ-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0853f3bd-b4a0-4c59-8370-60a5bd58ba85 860a8640-e651-4e9d-b4f0-d1dd589628ce g.chr4:106157973G>A uc011cez.2 + 2 3342 c.2937G>A c.(2935-2937)caG>caA p.Q979Q TET2_uc003hxk.3_Silent_p.Q958Q|TET2_uc003hxj.2_Non-coding_Transcript|TET2_uc021xqk.1_Silent_p.Q958Q|TET2_uc010ilp.2_Silent_p.Q958Q|TET2_uc021xql.1_Silent_p.Q958Q NM_001127208 NP_001120680 Q6N021 TET2_HUMAN Homo sapiens tet methylcytosine dioxygenase 2 (TET2), transcript variant 1, mRNA. 958 cell cycle|myeloid cell differentiation metal ion binding|methylcytosine dioxygenase activity|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen NS(1)|breast(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1272)|kidney(3)|large_intestine(11)|lung(10)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2) 1314 Myeloproliferative disorder(5;0.0393) OV - Ovarian serous cystadenocarcinoma(123;7.18e-08) ATCTCTTACAGAAGCAAGAAC 0.507000 """Mis N, F""" MDS 10 22 0 0 0.00188189 0 0 KRTDAP 388533 broad.mit.edu 37 19 35979739 35979739 + Missense_Mutation SNP C T T TCGA-EE-A2MQ-06A-11D-A197-08 TCGA-EE-A2MQ-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0853f3bd-b4a0-4c59-8370-60a5bd58ba85 860a8640-e651-4e9d-b4f0-d1dd589628ce g.chr19:35979739C>T uc002nzh.3 - 1 180 c.91G>A c.(91-93)Gaa>Aaa p.E31K KRTDAP_uc021uso.1_Missense_Mutation_p.E31K NM_207392 NP_997275 P60985 KTDAP_HUMAN Homo sapiens keratinocyte differentiation-associated protein (KRTDAP), transcript variant 1, mRNA. 31 cell differentiation extracellular region breast(1)|lung(4)|prostate(1) 6 all_lung(56;1.89e-08)|Lung NSC(56;2.9e-08)|Esophageal squamous(110;0.162) LUSC - Lung squamous cell carcinoma(66;0.0724) ATGGTGCTTTCTTCCTGGAAA 0.572000 44 26 0 0 0.00178596 0 0 NAP1L4 4676 broad.mit.edu 37 11 2991032 2991032 + Splice_Site SNP C G G TCGA-EE-A2MQ-06A-11D-A197-08 TCGA-EE-A2MQ-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0853f3bd-b4a0-4c59-8370-60a5bd58ba85 860a8640-e651-4e9d-b4f0-d1dd589628ce g.chr11:2991032C>G uc010qxm.2 - 8 818 c.534_splice c.e8+1 p.Q178_splice NAP1L4_uc001lxc.3_Splice_Site_p.Q178_splice|NAP1L4_uc010qxn.2_Splice_Site_p.Q178_splice NM_005969 NP_005960 Q99733 NP1L4_HUMAN Homo sapiens nucleosome assembly protein 1-like 4 (NAP1L4), mRNA. 178 nucleosome assembly chromatin assembly complex|cytoplasm unfolded protein binding endometrium(2)|kidney(3)|large_intestine(1)|lung(6)|ovary(1) 13 all_epithelial(84;0.000236)|Medulloblastoma(188;0.00106)|Breast(177;0.00328)|Ovarian(85;0.00556)|all_neural(188;0.00681) BRCA - Breast invasive adenocarcinoma(625;0.00301)|LUSC - Lung squamous cell carcinoma(625;0.211) AGTGTGCTTACCTGGACTAAT 0.413000 220 145 0 0 0.000781405 0 0 CCDC67 159989 broad.mit.edu 37 11 93103287 93103287 + Nonsense_Mutation SNP C T T TCGA-EE-A2MQ-06A-11D-A197-08 TCGA-EE-A2MQ-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0853f3bd-b4a0-4c59-8370-60a5bd58ba85 860a8640-e651-4e9d-b4f0-d1dd589628ce g.chr11:93103287C>T uc001pdq.3 + 5 581 c.481C>T c.(481-483)Cag>Tag p.Q161* CCDC67_uc001pdo.1_Nonsense_Mutation_p.Q161*|CCDC67_uc001pdp.3_Nonsense_Mutation_p.Q161* NM_181645 NP_857596 Q05D60 CCD67_HUMAN Homo sapiens coiled-coil domain containing 67 (CCDC67), mRNA. 161 endometrium(3)|kidney(1)|large_intestine(1)|lung(10)|ovary(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 22 Acute lymphoblastic leukemia(157;2.35e-05)|all_hematologic(158;0.00824) GATATTATATCAGACTCATCT 0.289000 12 7 0 0 0.000442599 0 0 STK24 8428 broad.mit.edu 37 13 99171669 99171669 + Missense_Mutation SNP G A A TCGA-EE-A2MQ-06A-11D-A197-08 TCGA-EE-A2MQ-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0853f3bd-b4a0-4c59-8370-60a5bd58ba85 860a8640-e651-4e9d-b4f0-d1dd589628ce g.chr13:99171669G>A uc001vnm.1 - 1 372 c.137C>T c.(136-138)tCc>tTc p.S46F STK24_uc001vnn.1_Missense_Mutation_p.S34F|STK24_uc010tim.1_Missense_Mutation_p.S34F NM_003576 NP_003567 Q9Y6E0 STK24_HUMAN Homo sapiens serine/threonine kinase 24 (STK24), transcript variant 1, mRNA. 46 Protein kinase. cellular component disassembly involved in apoptosis|signal transduction cytosol|nucleoplasm ATP binding|protein binding|protein serine/threonine kinase activity NS(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(7)|ovary(1)|skin(1) 17 all_neural(89;0.0982)|Medulloblastoma(90;0.163)|Lung SC(71;0.184) BRCA - Breast invasive adenocarcinoma(86;0.233) CTCTCCAAAGGAGCCCTTCCC 0.423000 45 147 0 0 0.000781405 0 0 COL8A1 1295 broad.mit.edu 37 3 99513893 99513893 + Missense_Mutation SNP C T T TCGA-EE-A2MQ-06A-11D-A197-08 TCGA-EE-A2MQ-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0853f3bd-b4a0-4c59-8370-60a5bd58ba85 860a8640-e651-4e9d-b4f0-d1dd589628ce g.chr3:99513893C>T uc003dti.1 + 2 1279 c.1151C>T c.(1150-1152)cCa>cTa p.P384L MIR548G_uc021xbq.1_Intron|COL8A1_uc003dtg.1_Missense_Mutation_p.P383L|COL8A1_uc003dth.1_Missense_Mutation_p.P383L NM_020351 NP_065084 P27658 CO8A1_HUMAN Homo sapiens collagen, type VIII, alpha 1 (COL8A1), transcript variant 2, mRNA. 383 Triple-helical region (COL1). angiogenesis|cell adhesion basement membrane|collagen type VIII breast(1)|endometrium(3)|kidney(1)|large_intestine(1)|lung(15)|skin(5)|upper_aerodigestive_tract(1) 27 ATAGGTGCCCCAGGAATAGGG 0.597000 15 12 0 0 0.00136819 0 0 OR52D1 390066 broad.mit.edu 37 11 5510825 5510825 + Nonsense_Mutation SNP G T T TCGA-EE-A2MQ-06A-11D-A197-08 TCGA-EE-A2MQ-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0853f3bd-b4a0-4c59-8370-60a5bd58ba85 860a8640-e651-4e9d-b4f0-d1dd589628ce g.chr11:5510825G>T uc010qzg.2 + 0 911 c.889G>T c.(889-891)Gga>Tga p.G297* HBG1_uc001mak.1_Intron|HBE1_uc001mam.1_Intron|OR51B5_uc021qcv.1_Intron|OR51B5_uc001maq.2_Intron NM_001005163 NP_001005163 Q9H346 O52D1_HUMAN Homo sapiens olfactory receptor, family 52, subfamily D, member 1 (OR52D1), mRNA. 297 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity central_nervous_system(1)|cervix(1)|endometrium(3)|large_intestine(5)|lung(8)|prostate(1)|skin(2)|upper_aerodigestive_tract(1) 22 Medulloblastoma(188;0.0075)|all_neural(188;0.0572)|Breast(177;0.0675) Epithelial(150;3.46e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135) TATTCTCTATGGAGCTAGAAC 0.458000 26 18 1.33834e-09 1.17906e-08 0.000958276 1 0 ZNF292 23036 broad.mit.edu 37 6 87970646 87970646 + Silent SNP A T T TCGA-EE-A2MQ-06A-11D-A197-08 TCGA-EE-A2MQ-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0853f3bd-b4a0-4c59-8370-60a5bd58ba85 860a8640-e651-4e9d-b4f0-d1dd589628ce g.chr6:87970646A>T uc003plm.4 + 7 7340 c.7299A>T c.(7297-7299)tcA>tcT p.S2433S NM_015021 NP_055836 O60281 ZN292_HUMAN Homo sapiens zinc finger protein 292 (ZNF292), mRNA. 2433 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding NS(1)|breast(4)|central_nervous_system(1)|endometrium(16)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(27)|lung(21)|ovary(4)|prostate(6)|upper_aerodigestive_tract(1)|urinary_tract(2) 89 all_cancers(76;3.82e-09)|Prostate(29;1.34e-10)|Acute lymphoblastic leukemia(125;2.17e-10)|all_hematologic(105;1.08e-06)|all_epithelial(107;5.31e-05) BRCA - Breast invasive adenocarcinoma(108;0.0199) GTTGCAACTCACAAGTAAAGG 0.348000 13 9 0 0 0.000442599 0 0 SLX4 84464 broad.mit.edu 37 16 3640985 3640985 + Missense_Mutation SNP G T T rs147492092 by1000genomes TCGA-EE-A2MQ-06A-11D-A197-08 TCGA-EE-A2MQ-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0853f3bd-b4a0-4c59-8370-60a5bd58ba85 860a8640-e651-4e9d-b4f0-d1dd589628ce g.chr16:3640985G>T uc002cvp.2 - 11 3281 c.2654C>A c.(2653-2655)cCg>cAg p.P885Q NM_032444 NP_115820 Q8IY92 SLX4_HUMAN Homo sapiens SLX4 structure-specific endonuclease subunit homolog (S. cerevisiae) (SLX4), mRNA. 885 Interaction with PLK1 and TERF2-TERF2IP. DNA double-strand break processing involved in repair via single-strand annealing|double-strand break repair via homologous recombination|nucleotide-excision repair Slx1-Slx4 complex enzyme activator activity|protein binding breast(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(18)|lung(20)|ovary(3)|pancreas(1)|prostate(7)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1) 76 CCCAGAAACCGGACTGCCACC 0.582000 Direct reversal of damage 36 17 5.3912e-06 4.72358e-05 0.00074312 1 0 C9orf24 84688 broad.mit.edu 37 9 34379725 34379725 + Nonsense_Mutation SNP A T T TCGA-EE-A2MQ-06A-11D-A197-08 TCGA-EE-A2MQ-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0853f3bd-b4a0-4c59-8370-60a5bd58ba85 860a8640-e651-4e9d-b4f0-d1dd589628ce g.chr9:34379725A>T uc003zuh.1 - 5 926 c.708T>A c.(706-708)tgT>tgA p.C236* KIAA1161_uc003zue.4_5'Flank|C9orf24_uc003zug.1_Nonsense_Mutation_p.C101*|C9orf24_uc022bgb.1_Missense_Mutation_p.V103E|C9orf24_uc003zuf.1_Missense_Mutation_p.V50E|C9orf24_uc003zui.1_3'UTR NM_032596 NP_115985 Q8NCR6 CI024_HUMAN Homo sapiens chromosome 9 open reading frame 24 (C9orf24), transcript variant 1, mRNA. 236 endometrium(1)|kidney(1)|large_intestine(1)|lung(1)|ovary(1) 5 LUSC - Lung squamous cell carcinoma(29;0.0107) GBM - Glioblastoma multiforme(74;0.123) GTAGGGAGGTACACATCTGGA 0.587000 OREG0019150 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 39 21 0 0 0.00047179 0 0 ANK1 286 broad.mit.edu 37 8 41550168 41550168 + Missense_Mutation SNP C T T TCGA-EE-A2MQ-06A-11D-A197-08 TCGA-EE-A2MQ-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0853f3bd-b4a0-4c59-8370-60a5bd58ba85 860a8640-e651-4e9d-b4f0-d1dd589628ce g.chr8:41550168C>T uc003xok.3 - 30 3940 c.3856G>A c.(3856-3858)Gag>Aag p.E1286K NKX6-3_uc010lxa.1_Intron|ANK1_uc003xoh.3_Missense_Mutation_p.E602K|ANK1_uc003xoi.3_Missense_Mutation_p.E1286K|ANK1_uc003xoj.3_Missense_Mutation_p.E1286K|ANK1_uc003xol.3_Missense_Mutation_p.E1286K|ANK1_uc003xom.3_Missense_Mutation_p.E1327K NM_020476 NP_065209 P16157 ANK1_HUMAN Homo sapiens ankyrin 1, erythrocytic (ANK1), transcript variant 1, mRNA. 1286 E -> D. axon guidance|cytoskeleton organization|exocytosis|maintenance of epithelial cell apical/basal polarity|signal transduction basolateral plasma membrane|cytosol|sarcomere|sarcoplasmic reticulum|spectrin-associated cytoskeleton cytoskeletal adaptor activity|enzyme binding|protein binding|spectrin binding|structural constituent of cytoskeleton breast(5)|central_nervous_system(4)|endometrium(9)|kidney(1)|large_intestine(26)|lung(62)|ovary(3)|prostate(5)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(3) 122 Ovarian(28;0.00541)|Colorectal(14;0.0398)|Lung SC(25;0.211) all_lung(54;0.000626)|Lung NSC(58;0.00245)|Esophageal squamous(32;0.0559)|Hepatocellular(245;0.0663)|Renal(179;0.188) OV - Ovarian serous cystadenocarcinoma(14;0.000984)|Lung(22;0.00108)|Colorectal(10;0.00245)|LUSC - Lung squamous cell carcinoma(45;0.00392)|COAD - Colon adenocarcinoma(11;0.0264) CCTGTTACCTCTATGTCCCTG 0.597000 163 88 0 0 0.000781405 0 0 PCSK7 9159 broad.mit.edu 37 11 117100225 117100225 + Silent SNP G A A TCGA-EE-A2MQ-06A-11D-A197-08 TCGA-EE-A2MQ-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0853f3bd-b4a0-4c59-8370-60a5bd58ba85 860a8640-e651-4e9d-b4f0-d1dd589628ce g.chr11:117100225G>A uc001pqr.3 - 2 537 c.336C>T c.(334-336)gcC>gcT p.A112A NM_004716 NP_004707 Q16549 PCSK7_HUMAN Homo sapiens proprotein convertase subtilisin/kexin type 7 (PCSK7), mRNA. 112 A -> P (in Ref. 1; AAC50417 and 3; AAB03087). peptide hormone processing integral to Golgi membrane serine-type endopeptidase activity NS(1)|endometrium(3)|large_intestine(2)|lung(8)|ovary(1)|skin(1) 16 all_hematologic(175;0.0487) Breast(348;0.00908)|Medulloblastoma(222;0.0425)|all_hematologic(192;0.196)|all_neural(223;0.234) BRCA - Breast invasive adenocarcinoma(274;1.72e-06)|Epithelial(105;6.71e-05)|all cancers(92;0.000537) GCTGCCGGATGGCCTCCACCT 0.652000 T IGH@ MLCLS 29 26 0 0 0.00127121 0 0 FAT3 120114 broad.mit.edu 37 11 92086518 92086518 + Missense_Mutation SNP G T T TCGA-EE-A2MQ-06A-11D-A197-08 TCGA-EE-A2MQ-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0853f3bd-b4a0-4c59-8370-60a5bd58ba85 860a8640-e651-4e9d-b4f0-d1dd589628ce g.chr11:92086518G>T uc001pdj.4 + 0 1257 c.1240G>T c.(1240-1242)Ggt>Tgt p.G414C NM_001008781 NP_001008781 Q8TDW7 FAT3_HUMAN Homo sapiens FAT tumor suppressor homolog 3 (Drosophila) (FAT3), mRNA. 414 Cadherin 4. homophilic cell adhesion|multicellular organismal development integral to membrane|plasma membrane calcium ion binding NS(1)|breast(2)|endometrium(10)|kidney(4)|large_intestine(11)|liver(2)|lung(37)|ovary(5)|pancreas(1)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(5) 85 Acute lymphoblastic leukemia(157;3.01e-05)|all_hematologic(158;0.00858) ATTATCTCCTGGTGAGGATGC 0.418000 TCGA Ovarian(4;0.039) 476 11 0.00010058 0.000876443 0.00136819 1 0 DPEP1 1800 broad.mit.edu 37 16 89703940 89703940 + Missense_Mutation SNP C G G TCGA-EE-A2MQ-06A-11D-A197-08 TCGA-EE-A2MQ-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0853f3bd-b4a0-4c59-8370-60a5bd58ba85 860a8640-e651-4e9d-b4f0-d1dd589628ce g.chr16:89703940C>G uc010cin.3 + 7 1036 c.833C>G c.(832-834)gCc>gGc p.A278G DPEP1_uc002fnr.4_Missense_Mutation_p.A278G|DPEP1_uc002fns.4_Missense_Mutation_p.A278G NM_001128141 NP_004404 P16444 DPEP1_HUMAN Homo sapiens dipeptidase 1 (renal) (DPEP1), transcript variant 2, mRNA. 278 proteolysis anchored to membrane|apical plasma membrane|microvillus membrane dipeptidase activity|dipeptidyl-peptidase activity|metal ion binding|metalloexopeptidase activity|protein binding large_intestine(2)|lung(10)|prostate(1)|urinary_tract(1) 14 all_lung(18;0.0054)|all_hematologic(23;0.094) BRCA - Breast invasive adenocarcinoma(80;0.0258) Cilastatin(DB01597) ACCAACAAGGCCAACCTGTCC 0.577000 93 4 0 0 0.00024832 0 0 MEP1A 4224 broad.mit.edu 37 6 46800954 46800954 + Missense_Mutation SNP C T T TCGA-EE-A2MQ-06A-11D-A197-08 TCGA-EE-A2MQ-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0853f3bd-b4a0-4c59-8370-60a5bd58ba85 860a8640-e651-4e9d-b4f0-d1dd589628ce g.chr6:46800954C>T uc011dwh.1 + 9 1380 c.1372C>T c.(1372-1374)Ccc>Tcc p.P458S MEP1A_uc010jzh.1_Missense_Mutation_p.P430S|MEP1A_uc011dwg.1_Missense_Mutation_p.P152S|MEP1A_uc011dwi.1_Missense_Mutation_p.P330S NM_005588 NP_005579 Q16819 MEP1A_HUMAN Homo sapiens meprin A, alpha (PABA peptide hydrolase) (MEP1A), mRNA. 430 MATH. digestion|proteolysis extracellular space|integral to plasma membrane|soluble fraction metalloendopeptidase activity|zinc ion binding p.R458*(1) NS(1)|breast(1)|endometrium(5)|kidney(2)|large_intestine(4)|lung(21)|ovary(1)|pancreas(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2) 42 Lung(136;0.192) GACAGAAACCCCCTGCCCCAC 0.517000 45 43 0 0 0.000781405 0 0 COL6A3 1293 broad.mit.edu 37 2 238267684 238267684 + Silent SNP T A A TCGA-EE-A2MQ-06A-11D-A197-08 TCGA-EE-A2MQ-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0853f3bd-b4a0-4c59-8370-60a5bd58ba85 860a8640-e651-4e9d-b4f0-d1dd589628ce g.chr2:238267684T>A uc002vwl.2 - 19 6687 c.6402A>T c.(6400-6402)ggA>ggT p.G2134G COL6A3_uc002vwo.2_Silent_p.G1928G|COL6A3_uc010znj.1_Silent_p.G1527G NM_004369 NP_004360 P12111 CO6A3_HUMAN Homo sapiens collagen, type VI, alpha 3 (COL6A3), transcript variant 1, mRNA. 2134 Collagen-like 2.|Triple-helical region. axon guidance|cell adhesion|muscle organ development collagen type VI|extracellular space serine-type endopeptidase inhibitor activity breast(6)|central_nervous_system(7)|cervix(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(13)|large_intestine(64)|lung(62)|ovary(14)|pancreas(2)|prostate(11)|skin(14)|stomach(2)|upper_aerodigestive_tract(6)|urinary_tract(4) 217 Breast(86;0.000301)|Renal(207;0.000966)|all_hematologic(139;0.067)|Ovarian(221;0.0694)|all_lung(227;0.0943)|Melanoma(123;0.203) Epithelial(121;1.23e-21)|OV - Ovarian serous cystadenocarcinoma(60;1.34e-10)|Kidney(56;5.71e-09)|KIRC - Kidney renal clear cell carcinoma(57;1.51e-07)|BRCA - Breast invasive adenocarcinoma(100;0.00025)|Lung(119;0.0142)|LUSC - Lung squamous cell carcinoma(224;0.034) CTACCCTTCTTCCAGGATTCC 0.418000 235 170 0 0 0.000781405 0 0 NFIX 4784 broad.mit.edu 37 19 13192606 13192606 + Silent SNP G A A TCGA-EE-A2MQ-06A-11D-A197-08 TCGA-EE-A2MQ-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0853f3bd-b4a0-4c59-8370-60a5bd58ba85 860a8640-e651-4e9d-b4f0-d1dd589628ce g.chr19:13192606G>A uc010xmx.2 + 7 1268 c.1215G>A c.(1213-1215)caG>caA p.Q405Q NFIX_uc002mwd.3_Silent_p.Q397Q|NFIX_uc002mwe.3_Silent_p.Q389Q|NFIX_uc002mwf.3_Silent_p.Q359Q|NFIX_uc002mwg.2_Silent_p.Q396Q Q14938 NFIX_HUMAN Homo sapiens nuclear factor I/X (CCAAT-binding transcription factor) (NFIX), mRNA. 397 DNA replication|negative regulation of transcription from RNA polymerase II promoter|positive regulation of transcription from RNA polymerase II promoter nucleus DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity NS(1)|breast(1)|endometrium(3)|kidney(2)|large_intestine(1)|lung(1)|skin(1)|urinary_tract(1) 11 OV - Ovarian serous cystadenocarcinoma(19;8.2e-22) ACCACGGGCAGGACTCACTGA 0.637000 OREG0025286 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 23 16 0 0 0.000958276 0 0 PPP4R2 151987 broad.mit.edu 37 3 73114652 73114652 + Nonsense_Mutation SNP C T T TCGA-EE-A2MQ-06A-11D-A197-08 TCGA-EE-A2MQ-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0853f3bd-b4a0-4c59-8370-60a5bd58ba85 860a8640-e651-4e9d-b4f0-d1dd589628ce g.chr3:73114652C>T uc003dph.1 + 8 1103 c.1033C>T c.(1033-1035)Caa>Taa p.Q345* PPP4R2_uc003dpi.1_Nonsense_Mutation_p.Q288* NM_174907 NP_777567 Q9NY27 PP4R2_HUMAN Homo sapiens protein phosphatase 4, regulatory subunit 2 (PPP4R2), mRNA. 345 Glu-rich. RNA splicing|mRNA processing|protein modification process|regulation of double-strand break repair via homologous recombination centrosome|nucleus|protein phosphatase 4 complex protein binding, bridging|protein phosphatase type 4 regulator activity breast(2)|endometrium(1)|large_intestine(1)|lung(3)|skin(2)|stomach(1)|urinary_tract(2) 12 Prostate(10;0.0187)|Lung SC(41;0.236) Epithelial(33;1.76e-07)|BRCA - Breast invasive adenocarcinoma(55;9.42e-05)|LUSC - Lung squamous cell carcinoma(21;0.00211)|Lung(16;0.00643)|KIRC - Kidney renal clear cell carcinoma(39;0.0164)|Kidney(39;0.0193)|OV - Ovarian serous cystadenocarcinoma(275;0.031) GGAAAATAATCAAATGGAGGA 0.373000 91 40 0 0 0.000437636 0 0 NOTCH2 4853 broad.mit.edu 37 1 120548030 120548030 + Nonsense_Mutation SNP G A A TCGA-EE-A2MQ-06A-11D-A197-08 TCGA-EE-A2MQ-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0853f3bd-b4a0-4c59-8370-60a5bd58ba85 860a8640-e651-4e9d-b4f0-d1dd589628ce g.chr1:120548030G>A uc001eik.3 - 2 634 c.337C>T c.(337-339)Cga>Tga p.R113* NOTCH2_uc001eil.3_Nonsense_Mutation_p.R113*|NOTCH2_uc021osy.1_Nonsense_Mutation_p.R74*|NOTCH2_uc001eim.4_Nonsense_Mutation_p.R30* NM_024408 NP_077719 Q04721 NOTC2_HUMAN Homo sapiens notch 2 (NOTCH2), transcript variant 1, mRNA. 113 EGF-like 3. Notch receptor processing|Notch signaling pathway|anti-apoptosis|bone remodeling|cell cycle arrest|cell fate determination|cell growth|hemopoiesis|induction of apoptosis|negative regulation of cell proliferation|nervous system development|organ morphogenesis|positive regulation of Ras protein signal transduction|regulation of transcription, DNA-dependent|stem cell maintenance|transcription, DNA-dependent Golgi lumen|cell surface|cytosol|endoplasmic reticulum lumen|extracellular region|integral to plasma membrane|nucleoplasm calcium ion binding|ligand-regulated transcription factor activity|protein binding|receptor activity breast(4)|central_nervous_system(6)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(9)|kidney(9)|large_intestine(19)|liver(1)|lung(57)|ovary(4)|pancreas(1)|prostate(7)|skin(24)|stomach(2)|upper_aerodigestive_tract(5)|urinary_tract(1) 158 all_neural(166;0.153) all_lung(203;1.96e-06)|Lung NSC(69;1.47e-05)|all_epithelial(167;0.000809) Lung(183;0.0242)|LUSC - Lung squamous cell carcinoma(189;0.133) AGGCAGGGTCGAGACACAAAG 0.547000 """N, F, Mis""" """marginal zone lymphoma, DLBCL""" Alagille Syndrome 645 110 0 0 0.000781405 0 0 JPH3 57338 broad.mit.edu 37 16 87723315 87723315 + Missense_Mutation SNP G A A TCGA-EE-A2MQ-06A-11D-A197-08 TCGA-EE-A2MQ-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0853f3bd-b4a0-4c59-8370-60a5bd58ba85 860a8640-e651-4e9d-b4f0-d1dd589628ce g.chr16:87723315G>A uc002fkd.3 + 3 1603 c.1349G>A c.(1348-1350)gGg>gAg p.G450E JPH3_uc010vou.1_Non-coding_Transcript NM_020655 NP_065706 Q8WXH2 JPH3_HUMAN Homo sapiens junctophilin 3 (JPH3), mRNA. 450 calcium ion transport into cytosol|regulation of ryanodine-sensitive calcium-release channel activity integral to membrane|junctional sarcoplasmic reticulum membrane|plasma membrane protein binding breast(1)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(3)|lung(13)|ovary(1)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1) 30 BRCA - Breast invasive adenocarcinoma(80;0.0287) CTGTCCACCGGGACACCCCTG 0.662000 8 13 0 0 0.00185496 0 0 CHL1 10752 broad.mit.edu 37 3 432815 432815 + Missense_Mutation SNP C T T TCGA-EE-A2MQ-06A-11D-A197-08 TCGA-EE-A2MQ-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0853f3bd-b4a0-4c59-8370-60a5bd58ba85 860a8640-e651-4e9d-b4f0-d1dd589628ce g.chr3:432815C>T uc003bot.3 + 21 3406 c.2764C>T c.(2764-2766)Cct>Tct p.P922S CHL1_uc003bou.3_Missense_Mutation_p.P906S|CHL1_uc003bow.2_Missense_Mutation_p.P906S|CHL1_uc011asi.2_Missense_Mutation_p.P922S NM_006614 NP_006605 O00533 CHL1_HUMAN Homo sapiens cell adhesion molecule with homology to L1CAM (close homolog of L1) (CHL1), transcript variant 1, mRNA. 906 Fibronectin type-III 4. axon guidance|cell adhesion|signal transduction integral to membrane|plasma membrane|proteinaceous extracellular matrix p.E921D(1) NS(1)|central_nervous_system(5)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(25)|lung(31)|ovary(1)|prostate(4)|skin(10)|stomach(1) 93 all_cancers(2;1.14e-06)|all_epithelial(2;0.00367)|all_lung(1;0.061)|Lung NSC(2;0.201) Epithelial(13;5.36e-06)|all cancers(10;1.4e-05)|OV - Ovarian serous cystadenocarcinoma(96;0.00323)|COAD - Colon adenocarcinoma(1;0.00925)|Colorectal(20;0.0198) TGAAAGTGAGCCTTATATATT 0.378000 39 20 0 0 0.000295444 0 0 IL17RD 54756 broad.mit.edu 37 3 57143635 57143635 + Silent SNP G A A TCGA-EE-A2MQ-06A-11D-A197-08 TCGA-EE-A2MQ-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0853f3bd-b4a0-4c59-8370-60a5bd58ba85 860a8640-e651-4e9d-b4f0-d1dd589628ce g.chr3:57143635G>A uc003dil.3 - 4 569 c.480C>T c.(478-480)ttC>ttT p.F160F IL17RD_uc003dik.3_Silent_p.F136F|IL17RD_uc010hna.3_Silent_p.F16F|IL17RD_uc011bex.1_Silent_p.F16F NM_017563 NP_060033 Q8NFM7 I17RD_HUMAN Homo sapiens interleukin 17 receptor D (IL17RD), mRNA. 160 Golgi membrane|integral to membrane|plasma membrane receptor activity breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(1)|ovary(1)|pancreas(1) 16 KIRC - Kidney renal clear cell carcinoma(284;0.0173)|Kidney(284;0.0204) CAACCTTTACGAAATAATCCG 0.413000 46 31 0 0 0.00178596 0 0 TMEM26 219623 broad.mit.edu 37 10 63170087 63170087 + Missense_Mutation SNP G A A TCGA-EE-A2MQ-06A-11D-A197-08 TCGA-EE-A2MQ-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0853f3bd-b4a0-4c59-8370-60a5bd58ba85 860a8640-e651-4e9d-b4f0-d1dd589628ce g.chr10:63170087G>A uc001jlo.2 - 5 1469 c.1100C>T c.(1099-1101)aCc>aTc p.T367I TMEM26_uc001jlp.1_Non-coding_Transcript NM_178505 NP_848600 Q6ZUK4 TMM26_HUMAN Homo sapiens transmembrane protein 26 (TMEM26), mRNA. 367 integral to membrane kidney(1)|large_intestine(2)|lung(11)|prostate(1)|skin(2)|urinary_tract(1) 18 Prostate(12;0.0112) TAACTAAGGGGTGTGGTGGGA 0.557000 24 18 0 0 0.000958276 0 0 SLC16A13 201232 broad.mit.edu 37 17 6942182 6942182 + Missense_Mutation SNP G A A TCGA-EE-A2MQ-06A-11D-A197-08 TCGA-EE-A2MQ-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0853f3bd-b4a0-4c59-8370-60a5bd58ba85 860a8640-e651-4e9d-b4f0-d1dd589628ce g.chr17:6942182G>A uc002geh.3 + 2 1363 c.1055G>A c.(1054-1056)gGg>gAg p.G352E NM_201566 NP_963860 Q7RTY0 MOT13_HUMAN Homo sapiens solute carrier family 16, member 13 (monocarboxylic acid transporter 13) (SLC16A13), mRNA. 352 integral to membrane|plasma membrane symporter activity haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|liver(2)|lung(3)|ovary(1)|skin(1)|stomach(1) 10 GAGAGCATCGGGGGGCTGCTG 0.577000 36 63 0 0 0.000781405 0 0 COL15A1 1306 broad.mit.edu 37 9 101767302 101767302 + Silent SNP C T T TCGA-EE-A2MQ-06A-11D-A197-08 TCGA-EE-A2MQ-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0853f3bd-b4a0-4c59-8370-60a5bd58ba85 860a8640-e651-4e9d-b4f0-d1dd589628ce g.chr9:101767302C>T uc004azb.1 + 8 1529 c.1323C>T c.(1321-1323)tcC>tcT p.S441S NM_001855 NP_001846 P39059 COFA1_HUMAN Homo sapiens collagen, type XV, alpha 1 (COL15A1), mRNA. 441 4 X tandem repeats.|Nonhelical region 1 (NC1). angiogenesis|cell differentiation|signal transduction collagen type XV|extracellular space|integral to membrane binding NS(1)|breast(4)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(20)|liver(1)|lung(42)|ovary(6)|prostate(5)|skin(6)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1) 107 Acute lymphoblastic leukemia(62;0.0562) TCTCCATGTCCGCCCAGAGCC 0.642000 8 18 0 0 0.00121646 0 0 SPEF2 79925 broad.mit.edu 37 5 35792539 35792539 + Silent SNP C T T TCGA-EE-A2MQ-06A-11D-A197-08 TCGA-EE-A2MQ-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0853f3bd-b4a0-4c59-8370-60a5bd58ba85 860a8640-e651-4e9d-b4f0-d1dd589628ce g.chr5:35792539C>T uc003jjo.3 + 30 4656 c.4545C>T c.(4543-4545)acC>acT p.T1515T SPEF2_uc003jjp.1_Silent_p.T1001T|SPEF2_uc003jjr.3_Silent_p.T570T NM_024867 NP_079143 Q9C093 SPEF2_HUMAN Homo sapiens sperm flagellar 2 (SPEF2), transcript variant 1, mRNA. 1515 nucleobase, nucleoside, nucleotide and nucleic acid metabolic process ATP binding|nucleobase, nucleoside, nucleotide kinase activity|protein dimerization activity breast(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(15)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(1) 37 all_lung(31;7.56e-05) Lung(74;0.111)|COAD - Colon adenocarcinoma(61;0.14)|Colorectal(62;0.202) TGCACCTTACCCAACCTGAAG 0.353000 19 26 0 0 0.000720815 0 0 KITLG 4254 broad.mit.edu 37 12 88912503 88912503 + Missense_Mutation SNP C A A TCGA-EE-A2MQ-06A-11D-A197-08 TCGA-EE-A2MQ-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0853f3bd-b4a0-4c59-8370-60a5bd58ba85 860a8640-e651-4e9d-b4f0-d1dd589628ce g.chr12:88912503C>A uc001tav.3 - 3 529 c.334G>T c.(334-336)Gtg>Ttg p.V112L KITLG_uc009zsn.3_Missense_Mutation_p.V40L|KITLG_uc001taw.3_Missense_Mutation_p.V112L|KITLG_uc009zso.1_Intron NM_000899 NP_000890 P21583 SCF_HUMAN Homo sapiens KIT ligand (KITLG), transcript variant b, mRNA. 112 cell adhesion|cell proliferation|hemopoiesis|male gonad development|positive regulation of DNA replication|signal transduction cytoplasm|cytoskeleton|integral to membrane|plasma membrane growth factor activity|identical protein binding|stem cell factor receptor binding kidney(2)|large_intestine(3)|lung(1)|ovary(1)|prostate(1)|stomach(1) 9 ACGCACTCCACAAGGTCATCC 0.373000 Testicular Cancer, Familial Clustering of 60 25 3.69857e-22 3.32248e-21 0.001512 1 0 LOC100192204 100192204 broad.mit.edu 37 10 15197214 15197214 + Missense_Mutation SNP G A A TCGA-EE-A2MQ-06A-11D-A197-08 TCGA-EE-A2MQ-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0853f3bd-b4a0-4c59-8370-60a5bd58ba85 860a8640-e651-4e9d-b4f0-d1dd589628ce g.chr10:15197214G>A uc010qca.1 - 0 133 c.106C>T c.(106-108)Cgt>Tgt p.R36C NMT2_uc001inz.1_Intron|NMT2_uc001ioa.1_Intron|NMT2_uc010qbz.1_Intron Homo sapiens peptidylprolyl isomerase A (cyclophilin A) pseudogene (LOC100192204), non-coding RNA. CTCAGAGCACGAAAGTTTTCT 0.473000 38 26 0 0 0.00178596 0 0 CPAMD8 27151 broad.mit.edu 37 19 17088187 17088187 + Silent SNP G A A TCGA-EE-A2MQ-06A-11D-A197-08 TCGA-EE-A2MQ-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0853f3bd-b4a0-4c59-8370-60a5bd58ba85 860a8640-e651-4e9d-b4f0-d1dd589628ce g.chr19:17088187G>A uc002nfb.3 - 14 1922 c.1890C>T c.(1888-1890)ttC>ttT p.F630F NM_015692 NP_056507 Q8IZJ3 CPMD8_HUMAN Homo sapiens C3 and PZP-like, alpha-2-macroglobulin domain containing 8 (CPAMD8), mRNA. 583 extracellular space|plasma membrane serine-type endopeptidase inhibitor activity breast(11)|central_nervous_system(3)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(17)|lung(14)|ovary(7)|pancreas(2)|prostate(4)|skin(5) 82 CCTGGTTTTCGAAGAAGGTCT 0.612000 49 40 0 0 0.000781405 0 0 SH3PXD2B 285590 broad.mit.edu 37 5 171765926 171765926 + Missense_Mutation SNP G A A TCGA-EE-A2MQ-06A-11D-A197-08 TCGA-EE-A2MQ-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0853f3bd-b4a0-4c59-8370-60a5bd58ba85 860a8640-e651-4e9d-b4f0-d1dd589628ce g.chr5:171765926G>A uc003mbr.3 - 12 2354 c.2183C>T c.(2182-2184)gCc>gTc p.A728V NM_001017995 NP_001017995 A1X283 SPD2B_HUMAN Homo sapiens SH3 and PX domains 2B (SH3PXD2B), mRNA. 728 adipose tissue development|bone development|cell communication|cell differentiation|eye development|heart development|podosome assembly cell junction|cell projection|cytoplasm|podosome SH2 domain binding|phosphatidylinositol-3,5-bisphosphate binding|phosphatidylinositol-3-phosphate binding|phosphatidylinositol-5-phosphate binding NS(1)|breast(1)|endometrium(1)|kidney(3)|large_intestine(9)|lung(12)|ovary(3)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1) 36 Renal(175;0.000159)|Lung NSC(126;0.011)|all_lung(126;0.0175) Medulloblastoma(196;0.0207)|all_neural(177;0.0625) Kidney(164;7.24e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000516) CCTCGGAGGGGCTCTGCAGGA 0.632000 16 30 0 0 0.000491102 0 0 SPHKAP 80309 broad.mit.edu 37 2 228883267 228883267 + Missense_Mutation SNP G A A TCGA-EE-A2MQ-06A-11D-A197-08 TCGA-EE-A2MQ-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0853f3bd-b4a0-4c59-8370-60a5bd58ba85 860a8640-e651-4e9d-b4f0-d1dd589628ce g.chr2:228883267G>A uc002vpq.2 - 6 2350 c.2303C>T c.(2302-2304)tCc>tTc p.S768F SPHKAP_uc002vpp.2_Missense_Mutation_p.S768F|SPHKAP_uc010zlx.1_Missense_Mutation_p.S768F NM_001142644 NP_001136116 Q2M3C7 SPKAP_HUMAN Homo sapiens SPHK1 interactor, AKAP domain containing (SPHKAP), transcript variant 1, mRNA. 768 cytoplasm protein binding NS(5)|breast(5)|central_nervous_system(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(3)|kidney(12)|large_intestine(25)|lung(86)|ovary(6)|pancreas(1)|prostate(6)|skin(17)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1) 185 Renal(207;0.025)|all_hematologic(139;0.15)|all_lung(227;0.204)|Acute lymphoblastic leukemia(138;0.205)|Esophageal squamous(248;0.23) Epithelial(121;8.17e-11)|all cancers(144;7.92e-08)|Lung(261;0.0168)|LUSC - Lung squamous cell carcinoma(224;0.0232) GCTGCTGGAGGATTCAGTGGC 0.493000 76 48 0 0 0.000781405 0 0 GPRIN2 9721 broad.mit.edu 37 10 47000166 47000166 + Missense_Mutation SNP C T T TCGA-EE-A2MQ-06A-11D-A197-08 TCGA-EE-A2MQ-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0853f3bd-b4a0-4c59-8370-60a5bd58ba85 860a8640-e651-4e9d-b4f0-d1dd589628ce g.chr10:47000166C>T uc001jec.3 + 2 1421 c.1286C>T c.(1285-1287)tCt>tTt p.S429F GPRIN2_uc021ppt.1_Missense_Mutation_p.S429F NM_014696 NP_055511 O60269 GRIN2_HUMAN Homo sapiens G protein regulated inducer of neurite outgrowth 2 (GPRIN2), mRNA. 429 breast(2)|central_nervous_system(1)|endometrium(6)|kidney(1)|large_intestine(1)|lung(6)|prostate(1) 18 GACAGCCTGTCTGTGGAGGGC 0.716000 11 4 0 0 0.00116845 0 0 TRRAP 8295 broad.mit.edu 37 7 98559085 98559085 + Missense_Mutation SNP C T T TCGA-EE-A2MQ-06A-11D-A197-08 TCGA-EE-A2MQ-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0853f3bd-b4a0-4c59-8370-60a5bd58ba85 860a8640-e651-4e9d-b4f0-d1dd589628ce g.chr7:98559085C>T uc003upp.3 + 44 6879 c.6670C>T c.(6670-6672)Cca>Tca p.P2224S TRRAP_uc011kis.2_Missense_Mutation_p.P2206S|TRRAP_uc003upr.3_Missense_Mutation_p.P1923S NM_001244580 NP_001231509 Q9Y4A5 TRRAP_HUMAN Homo sapiens transformation/transcription domain-associated protein (TRRAP), transcript variant 1, mRNA. 2224 Interaction with TP53. histone H2A acetylation|histone H4 acetylation|histone deubiquitination|regulation of transcription, DNA-dependent|transcription, DNA-dependent NuA4 histone acetyltransferase complex|PCAF complex|STAGA complex|transcription factor TFTC complex phosphotransferase activity, alcohol group as acceptor|protein binding|transcription cofactor activity NS(3)|breast(1)|central_nervous_system(10)|endometrium(16)|kidney(7)|large_intestine(36)|liver(1)|lung(54)|ovary(10)|pancreas(1)|prostate(8)|skin(16)|stomach(5)|upper_aerodigestive_tract(6)|urinary_tract(2) 176 all_cancers(62;6.96e-09)|all_epithelial(64;4.86e-09)|Lung NSC(181;0.01)|all_lung(186;0.016)|Esophageal squamous(72;0.0274) STAD - Stomach adenocarcinoma(171;0.215) GAGCATTTTCCCAACAGAGCC 0.552000 50 46 0 0 0.000781405 0 0 ANK3 288 broad.mit.edu 37 10 61834621 61834621 + Silent SNP C T T TCGA-EE-A2MQ-06A-11D-A197-08 TCGA-EE-A2MQ-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0853f3bd-b4a0-4c59-8370-60a5bd58ba85 860a8640-e651-4e9d-b4f0-d1dd589628ce g.chr10:61834621C>T uc001jky.3 - 36 6356 c.6018G>A c.(6016-6018)gcG>gcA p.A2006A ANK3_uc001jkw.3_Intron|ANK3_uc009xpa.3_Intron|ANK3_uc001jkx.3_Intron|ANK3_uc010qih.2_Intron|ANK3_uc001jkz.4_Intron|ANK3_uc001jkv.3_Intron|ANK3_uc009xpb.1_Intron NM_020987 NP_066267 Q12955 ANK3_HUMAN Homo sapiens ankyrin 3, node of Ranvier (ankyrin G) (ANK3), transcript variant 1, mRNA. 2006 establishment of protein localization|signal transduction basolateral plasma membrane|cytoplasm|cytoskeleton protein binding NS(4)|breast(7)|central_nervous_system(5)|endometrium(19)|haematopoietic_and_lymphoid_tissue(5)|kidney(14)|large_intestine(30)|liver(2)|lung(59)|ovary(8)|pancreas(2)|prostate(5)|skin(26)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(7) 196 GAGACTGGCTCGCAGCAGCTT 0.448000 60 28 0 0 0.00127121 0 0 NLRP5 126206 broad.mit.edu 37 19 56539552 56539552 + Silent SNP C T T TCGA-EE-A2MQ-06A-11D-A197-08 TCGA-EE-A2MQ-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0853f3bd-b4a0-4c59-8370-60a5bd58ba85 860a8640-e651-4e9d-b4f0-d1dd589628ce g.chr19:56539552C>T uc002qmj.3 + 6 1953 c.1953C>T c.(1951-1953)gtC>gtT p.V651V NLRP5_uc002qmi.3_Silent_p.V632V NM_153447 NP_703148 P59047 NALP5_HUMAN Homo sapiens NLR family, pyrin domain containing 5 (NLRP5), mRNA. 651 mitochondrion|nucleolus ATP binding breast(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|ovary(5)|skin(2)|stomach(4)|upper_aerodigestive_tract(2) 25 Colorectal(82;3.46e-05)|Ovarian(87;0.0481)|Renal(1328;0.157) GBM - Glioblastoma multiforme(193;0.0326) CACTGGAGGTCCTGCTGGGCT 0.582000 8 27 0 0 0.00127121 0 0 EPHA5 2044 broad.mit.edu 37 4 66535317 66535317 + Silent SNP G A A TCGA-EE-A2MQ-06A-11D-A197-08 TCGA-EE-A2MQ-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0853f3bd-b4a0-4c59-8370-60a5bd58ba85 860a8640-e651-4e9d-b4f0-d1dd589628ce g.chr4:66535317G>A uc003hcy.3 - 0 337 c.144C>T c.(142-144)gcC>gcT p.A48A EPHA5_uc003hcx.3_5'Flank|EPHA5_uc003hcz.3_Silent_p.A48A|EPHA5_uc011cah.2_Silent_p.A48A|EPHA5_uc011cai.2_Silent_p.A48A|EPHA5_uc003hda.2_Silent_p.A48A|LOC100144602_uc003hdb.3_5'Flank NM_004439 NP_004430 P54756 EPHA5_HUMAN Homo sapiens EPH receptor A5 (EPHA5), transcript variant 1, mRNA. 48 cAMP-mediated signaling|neuron development dendrite|external side of plasma membrane|integral to plasma membrane|neuronal cell body|perinuclear region of cytoplasm|rough endoplasmic reticulum ATP binding|transmembrane-ephrin receptor activity autonomic_ganglia(1)|breast(2)|central_nervous_system(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(25)|liver(1)|lung(76)|ovary(3)|pancreas(1)|prostate(1)|skin(3)|stomach(4)|upper_aerodigestive_tract(2)|urinary_tract(3) 142 TCCGGAGTGCGGCGCACAGGA 0.731000 TSP Lung(17;0.13) 8 3 0 0 6.4e-05 0 0 NPY1R 4886 broad.mit.edu 37 4 164247100 164247100 + Missense_Mutation SNP G A A TCGA-EE-A2MQ-06A-11D-A197-08 TCGA-EE-A2MQ-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0853f3bd-b4a0-4c59-8370-60a5bd58ba85 860a8640-e651-4e9d-b4f0-d1dd589628ce g.chr4:164247100G>A uc003iqm.2 - 1 1072 c.607C>T c.(607-609)Cca>Tca p.P203S NPY1R_uc021xtv.1_Missense_Mutation_p.P203S|NPY1R_uc011cjj.2_Intron NM_000909 NP_000900 P25929 NPY1R_HUMAN Homo sapiens neuropeptide Y receptor Y1 (NPY1R), mRNA. 203 inhibition of adenylate cyclase activity by G-protein signaling pathway|outflow tract morphogenesis integral to plasma membrane protein binding breast(1)|cervix(1)|large_intestine(4)|lung(18)|pancreas(1)|skin(1)|upper_aerodigestive_tract(4) 30 all_hematologic(180;0.166) Prostate(90;0.0959)|all_neural(102;0.223) GAGTCCGATGGAAATTGATCA 0.383000 8 19 0 0 0.000958276 0 0 TCRBV20S1 0 broad.mit.edu 37 7 142032410 142032410 + Missense_Mutation SNP C T T TCGA-EE-A2MQ-06A-11D-A197-08 TCGA-EE-A2MQ-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0853f3bd-b4a0-4c59-8370-60a5bd58ba85 860a8640-e651-4e9d-b4f0-d1dd589628ce g.chr7:142032410C>T uc011krs.1 + 1 263 c.230C>T c.(229-231)tCg>tTg p.S77L TRBV2_uc011kro.1_Intron|TRBV5-1_uc011krr.1_Intron Homo sapiens mRNA for T cell receptor V beta6-D-J, partial cds. GCAGACAAATCGGGGCTTCCC 0.542000 9 6 0 0 8.12818e-05 0 0 NDOR1 27158 broad.mit.edu 37 9 140110212 140110213 + Missense_Mutation DNP CC TT TT TCGA-EE-A2MQ-06A-11D-A197-08 TCGA-EE-A2MQ-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0853f3bd-b4a0-4c59-8370-60a5bd58ba85 860a8640-e651-4e9d-b4f0-d1dd589628ce g.chr9:140110212_140110213CC>TT uc004clx.3 + 10 1501_1502 c.1390_1391CC>TT c.(1390-1392)ccc>TTc p.P464F NDOR1_uc004clw.3_Missense_Mutation_p.P464F|NDOR1_uc011mes.2_Missense_Mutation_p.P457F|NDOR1_uc004cly.3_Missense_Mutation_p.P430F NM_001144026 NP_001137498 Q9UHB4 NDOR1_HUMAN Homo sapiens NADPH dependent diflavin oxidoreductase 1 (NDOR1), transcript variant 1, mRNA. 464 cell death cytosol|intermediate filament cytoskeleton|nucleus|perinuclear region of cytoplasm FMN binding|NADP binding|flavin adenine dinucleotide binding|iron ion binding|oxidoreductase activity|protein binding breast(1)|endometrium(5)|large_intestine(1)|lung(5)|prostate(1)|skin(1)|urinary_tract(1) 15 all_cancers(76;0.0926) STAD - Stomach adenocarcinoma(284;0.0698) OV - Ovarian serous cystadenocarcinoma(145;6.37e-05)|Epithelial(140;0.00057) TGGGGTAGCCCCCTTCCGAGCA 0.678000 8 18 0 0 6.4e-05 0 0 OR2A5 393046 broad.mit.edu 37 7 143748423 143748423 + Missense_Mutation SNP C T T TCGA-EE-A2MQ-06A-11D-A197-08 TCGA-EE-A2MQ-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0853f3bd-b4a0-4c59-8370-60a5bd58ba85 860a8640-e651-4e9d-b4f0-d1dd589628ce g.chr7:143748423C>T uc011ktw.2 + 0 929 c.929C>T c.(928-930)tCa>tTa p.S310L NM_012365 NP_036497 Q96R48 OR2A5_HUMAN Homo sapiens olfactory receptor, family 2, subfamily A, member 5 (OR2A5), mRNA. 310 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity cervix(1)|endometrium(3)|large_intestine(5)|lung(23)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1) 38 Melanoma(164;0.0783) AAACAGAGATCAAAGTGAGGG 0.463000 28 28 0 0 0.00178596 0 0 OR10S1 219873 broad.mit.edu 37 11 123848156 123848156 + Silent SNP G A A TCGA-EE-A2MQ-06A-11D-A197-08 TCGA-EE-A2MQ-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0853f3bd-b4a0-4c59-8370-60a5bd58ba85 860a8640-e651-4e9d-b4f0-d1dd589628ce g.chr11:123848156G>A uc001pzm.1 - 0 243 c.243C>T c.(241-243)ttC>ttT p.F81F NM_001004474 NP_001004474 Q8NGN2 O10S1_HUMAN Homo sapiens olfactory receptor, family 10, subfamily S, member 1 (OR10S1), mRNA. 81 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(16)|ovary(1)|prostate(2)|skin(2)|urinary_tract(1) 36 Breast(109;0.00867)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|all_neural(223;0.22) BRCA - Breast invasive adenocarcinoma(274;4.88e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0399) AGGCATCCAGGAAGGAGAGGT 0.562000 9 8 0 0 0.000157383 0 0 LAMA5 3911 broad.mit.edu 37 20 60899214 60899214 + Missense_Mutation SNP G A A TCGA-EE-A2MQ-06A-11D-A197-08 TCGA-EE-A2MQ-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0853f3bd-b4a0-4c59-8370-60a5bd58ba85 860a8640-e651-4e9d-b4f0-d1dd589628ce g.chr20:60899214G>A uc002ycq.3 - 42 5757 c.5690C>T c.(5689-5691)gCt>gTt p.A1897V LAMA5_uc021wfw.1_Missense_Mutation_p.A1897V NM_005560 NP_005551 O15230 LAMA5_HUMAN Homo sapiens laminin, alpha 5 (LAMA5), mRNA. 1897 Laminin EGF-like 17. angiogenesis|cell proliferation|cell recognition|cytoskeleton organization|endothelial cell differentiation|focal adhesion assembly|integrin-mediated signaling pathway|regulation of cell adhesion|regulation of cell migration|regulation of embryonic development|substrate adhesion-dependent cell spreading extracellular space|laminin-1 complex|laminin-10 complex|laminin-11 complex integrin binding breast(2)|central_nervous_system(3)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(3)|kidney(7)|lung(40)|ovary(1)|pancreas(1)|prostate(3)|skin(6)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(2) 81 Breast(26;1.57e-08) BRCA - Breast invasive adenocarcinoma(19;4.36e-06) Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Tenecteplase(DB00031) CACGAAGCCAGCCTGGCAGCG 0.652000 21 17 0 0 0.000295444 0 0 LUZP1 7798 broad.mit.edu 37 1 23419931 23419931 + Missense_Mutation SNP G A A TCGA-EE-A2MQ-06A-11D-A197-08 TCGA-EE-A2MQ-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0853f3bd-b4a0-4c59-8370-60a5bd58ba85 860a8640-e651-4e9d-b4f0-d1dd589628ce g.chr1:23419931G>A uc001bgk.2 - 3 1374 c.824C>T c.(823-825)tCa>tTa p.S275L LUZP1_uc010odv.1_Missense_Mutation_p.S275L|LUZP1_uc001bgl.3_Missense_Mutation_p.S275L|LUZP1_uc001bgm.1_Missense_Mutation_p.S275L NM_033631 NP_361013 Q86V48 LUZP1_HUMAN Homo sapiens leucine zipper protein 1 (LUZP1), transcript variant 1, mRNA. 275 nucleus NS(1)|breast(1)|endometrium(6)|kidney(1)|large_intestine(8)|lung(12)|upper_aerodigestive_tract(2) 31 Colorectal(325;3.46e-05)|Lung NSC(340;4.15e-05)|all_lung(284;6.64e-05)|Renal(390;0.000219)|Ovarian(437;0.00373)|Breast(348;0.00815)|Myeloproliferative disorder(586;0.0255) UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|OV - Ovarian serous cystadenocarcinoma(117;4.88e-27)|Colorectal(126;8.36e-08)|COAD - Colon adenocarcinoma(152;4.31e-06)|GBM - Glioblastoma multiforme(114;8.64e-05)|BRCA - Breast invasive adenocarcinoma(304;0.00112)|KIRC - Kidney renal clear cell carcinoma(1967;0.00176)|STAD - Stomach adenocarcinoma(196;0.0146)|READ - Rectum adenocarcinoma(331;0.0686)|Lung(427;0.0967)|LUSC - Lung squamous cell carcinoma(448;0.199) TTCATTTTCTGATTTGTTTCT 0.398000 72 93 0 0 0.000781405 0 0 RBM10 8241 broad.mit.edu 37 X 47041239 47041239 + Missense_Mutation SNP C G G TCGA-EE-A2MQ-06A-11D-A197-08 TCGA-EE-A2MQ-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0853f3bd-b4a0-4c59-8370-60a5bd58ba85 860a8640-e651-4e9d-b4f0-d1dd589628ce g.chrX:47041239C>G uc004dhi.3 + 14 2091 c.1862C>G c.(1861-1863)aCt>aGt p.T621S RBM10_uc004dhf.3_Missense_Mutation_p.T556S|RBM10_uc004dhh.3_Missense_Mutation_p.T555S|RBM10_uc010nhq.3_Missense_Mutation_p.T479S|RBM10_uc004dhg.3_Missense_Mutation_p.T478S NM_001204468 NP_001191397 P98175 RBM10_HUMAN Homo sapiens RNA binding motif protein 10 (RBM10), transcript variant 5, mRNA. 556 RNA splicing|mRNA processing chromatin remodeling complex RNA binding|nucleotide binding|zinc ion binding breast(3)|central_nervous_system(1)|cervix(1)|endometrium(8)|large_intestine(10)|liver(1)|lung(14)|ovary(2)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(3) 48 ACCAGCCCCACTGCCCAGGAA 0.567000 33 3 0 0 6.4e-05 0 0 HEPHL1 341208 broad.mit.edu 37 11 93797623 93797623 + Missense_Mutation SNP C T T TCGA-EE-A2MQ-06A-11D-A197-08 TCGA-EE-A2MQ-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0853f3bd-b4a0-4c59-8370-60a5bd58ba85 860a8640-e651-4e9d-b4f0-d1dd589628ce g.chr11:93797623C>T uc001pep.2 + 3 912 c.755C>T c.(754-756)cCt>cTt p.P252L NM_001098672 NP_001092142 Q6MZM0 HPHL1_HUMAN Homo sapiens hephaestin-like 1 (HEPHL1), mRNA. 252 Plastocyanin-like 2. copper ion transport integral to membrane copper ion binding|oxidoreductase activity NS(2)|breast(4)|central_nervous_system(1)|endometrium(5)|kidney(2)|large_intestine(11)|lung(25)|ovary(3)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(3) 61 Acute lymphoblastic leukemia(157;2.34e-05)|all_hematologic(158;0.00824) TGCACCAACCCTGATTCAGTT 0.398000 33 14 0 0 0.00185496 0 0 OR4E2 26686 broad.mit.edu 37 14 22133660 22133660 + Missense_Mutation SNP C T T TCGA-EE-A2MQ-06A-11D-A197-08 TCGA-EE-A2MQ-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0853f3bd-b4a0-4c59-8370-60a5bd58ba85 860a8640-e651-4e9d-b4f0-d1dd589628ce g.chr14:22133660C>T uc010tmd.2 + 0 364 c.364C>T c.(364-366)Cgt>Tgt p.R122C NM_001001912 NP_001001912 Q8NGC2 OR4E2_HUMAN Homo sapiens olfactory receptor, family 4, subfamily E, member 2 (OR4E2), mRNA. 122 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity breast(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(5)|ovary(2)|pancreas(1)|skin(2)|urinary_tract(1) 15 all_cancers(95;0.00113) Acute lymphoblastic leukemia(2;0.0279) GBM - Glioblastoma multiforme(265;0.0137) GGCGTATGATCGTTACGTGGC 0.468000 23 75 0 0 0.000781405 0 0 DDX26B 203522 broad.mit.edu 37 X 134690140 134690140 + Silent SNP T C C TCGA-EE-A2MQ-06A-11D-A197-08 TCGA-EE-A2MQ-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0853f3bd-b4a0-4c59-8370-60a5bd58ba85 860a8640-e651-4e9d-b4f0-d1dd589628ce g.chrX:134690140T>C uc004eyw.4 + 8 1470 c.1107T>C c.(1105-1107)ttT>ttC p.F369F NM_182540 NP_872346 Q5JSJ4 DX26B_HUMAN Homo sapiens DEAD/H (Asp-Glu-Ala-Asp/His) box polypeptide 26B (DDX26B), mRNA. 369 large_intestine(1)|lung(8) 9 Acute lymphoblastic leukemia(192;6.56e-05) GATATCCATTTGGTTATTTAA 0.333000 71 52 0 0 0.000781405 0 0 CEL 1056 broad.mit.edu 37 9 135940600 135940600 + Missense_Mutation SNP A G G TCGA-EE-A2MQ-06A-11D-A197-08 TCGA-EE-A2MQ-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0853f3bd-b4a0-4c59-8370-60a5bd58ba85 860a8640-e651-4e9d-b4f0-d1dd589628ce g.chr9:135940600A>G uc010naa.1 + 3 539 c.523A>G c.(523-525)Agc>Ggc p.S175G NM_001807 NP_001798 P19835 CEL_HUMAN Homo sapiens carboxyl ester lipase (bile salt-stimulated lipase) (CEL), mRNA. 172 cholesterol catabolic process|fatty acid catabolic process|intestinal cholesterol absorption|intestinal lipid catabolic process|pancreatic juice secretion|protein esterification cytosol|extracellular space acylglycerol lipase activity|carboxylesterase activity|heparin binding|sterol esterase activity|triglyceride lipase activity NS(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(9)|pancreas(2)|skin(1) 20 OV - Ovarian serous cystadenocarcinoma(145;1.03e-40)|Epithelial(140;3.58e-37)|GBM - Glioblastoma multiforme(294;0.00164)|READ - Rectum adenocarcinoma(205;0.196) TGGGTTCCTCAGCACTGGGGA 0.622000 51 74 0 0 0.000781405 0 0 MXRA5 25878 broad.mit.edu 37 X 3240932 3240932 + Missense_Mutation SNP C T T TCGA-EE-A2MQ-06A-11D-A197-08 TCGA-EE-A2MQ-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0853f3bd-b4a0-4c59-8370-60a5bd58ba85 860a8640-e651-4e9d-b4f0-d1dd589628ce g.chrX:3240932C>T uc004crg.4 - 4 2951 c.2794G>A c.(2794-2796)Gaa>Aaa p.E932K NM_015419 NP_056234 Q9NR99 MXRA5_HUMAN Homo sapiens matrix-remodelling associated 5 (MXRA5), mRNA. 932 extracellular region NS(1)|biliary_tract(1)|breast(4)|central_nervous_system(3)|cervix(2)|endometrium(8)|kidney(2)|large_intestine(32)|lung(81)|ovary(6)|prostate(3)|skin(9)|stomach(3)|urinary_tract(2) 157 all_lung(23;0.00031)|Lung NSC(23;0.000946) GTGGGCTTTTCATAGACTGTG 0.507000 52 24 0 0 0.000720815 0 0 ITGA11 22801 broad.mit.edu 37 15 68641186 68641186 + Silent SNP A G G TCGA-EE-A2MQ-06A-11D-A197-08 TCGA-EE-A2MQ-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0853f3bd-b4a0-4c59-8370-60a5bd58ba85 860a8640-e651-4e9d-b4f0-d1dd589628ce g.chr15:68641186A>G uc010bib.3 - 9 1200 c.1113T>C c.(1111-1113)ttT>ttC p.F371F ITGA11_uc002ari.3_Silent_p.F371F NM_001004439 NP_001004439 Q9UKX5 ITA11_HUMAN Homo sapiens integrin, alpha 11 (ITGA11), mRNA. 371 cell-matrix adhesion|integrin-mediated signaling pathway|muscle organ development integrin complex collagen binding|receptor activity NS(2)|breast(1)|central_nervous_system(1)|endometrium(7)|kidney(6)|large_intestine(6)|lung(22)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(3)|urinary_tract(2) 52 Tirofiban(DB00775) CGTGCGAGGAAAAGCCCGTCT 0.567000 2 9 0 0 0.000673444 0 0 RYR3 6263 broad.mit.edu 37 15 34080582 34080582 + Silent SNP C T T TCGA-EE-A2MQ-06A-11D-A197-08 TCGA-EE-A2MQ-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0853f3bd-b4a0-4c59-8370-60a5bd58ba85 860a8640-e651-4e9d-b4f0-d1dd589628ce g.chr15:34080582C>T uc001zhi.3 + 66 9823 c.9753C>T c.(9751-9753)atC>atT p.I3251I RYR3_uc010bar.3_Silent_p.I3251I NM_001036 NP_001027 Q15413 RYR3_HUMAN Homo sapiens ryanodine receptor 3 (RYR3), transcript variant 1, mRNA. 3251 cellular calcium ion homeostasis integral to membrane calcium ion binding|receptor activity|ryanodine-sensitive calcium-release channel activity NS(3)|breast(9)|central_nervous_system(8)|cervix(2)|endometrium(29)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(55)|lung(148)|ovary(7)|pancreas(1)|prostate(13)|skin(4)|stomach(1)|upper_aerodigestive_tract(8)|urinary_tract(3) 311 all_lung(180;7.18e-09) all cancers(64;8.95e-12)|GBM - Glioblastoma multiforme(186;0.00109)|BRCA - Breast invasive adenocarcinoma(123;0.0363) AACTCCTCATCCTGGACGAGT 0.562000 51 41 0 0 0.00195071 0 0 CEACAM7 1087 broad.mit.edu 37 19 42190895 42190896 + Silent DNP GG AA AA TCGA-EE-A2MQ-06A-11D-A197-08 TCGA-EE-A2MQ-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0853f3bd-b4a0-4c59-8370-60a5bd58ba85 860a8640-e651-4e9d-b4f0-d1dd589628ce g.chr19:42190895_42190896GG>AA uc002ori.1 - 1 323_324 c.321_322CC>TT c.(319-324)accctg>acTTtg p.107_108TL>TL CEACAM7_uc010ehx.2_Silent_p.107_108TL>TL|CEACAM7_uc010ehy.1_Silent_p.107_108TL>TL NM_006890 NP_008821 Q14002 CEAM7_HUMAN Homo sapiens carcinoembryonic antigen-related cell adhesion molecule 7 (CEACAM7), mRNA. 107 Ig-like V-type. anchored to membrane|integral to membrane|plasma membrane breast(1)|endometrium(1)|large_intestine(3)|lung(6)|ovary(2)|prostate(3)|skin(1)|upper_aerodigestive_tract(1) 18 OV - Ovarian serous cystadenocarcinoma(3;0.0027)|all cancers(3;0.00979)|Epithelial(262;0.0366) TGGATCAGCAGGGTTCCATTGG 0.416000 204 59 0 0 6.4e-05 0 0 CEP250 11190 broad.mit.edu 37 20 34053976 34053976 + Missense_Mutation SNP C G G TCGA-EE-A2MQ-06A-11D-A197-08 TCGA-EE-A2MQ-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0853f3bd-b4a0-4c59-8370-60a5bd58ba85 860a8640-e651-4e9d-b4f0-d1dd589628ce g.chr20:34053976C>G uc021wco.1 + 6 1086 c.439C>G c.(439-441)Cgg>Ggg p.R147G CEP250_uc010zve.2_5'UTR|CEP250_uc021wcn.1_Missense_Mutation_p.R147G|CEP250_uc010gfe.1_Non-coding_Transcript|CEP250_uc010zvd.2_Non-coding_Transcript|CEP250_uc002xco.3_5'Flank NM_007186 NP_009117 Q9BV73 CP250_HUMAN Homo sapiens centrosomal protein 250kDa (CEP250), mRNA. 147 G2/M transition of mitotic cell cycle|centriole-centriole cohesion|protein localization|regulation of centriole-centriole cohesion centriole|cilium|cytosol|microtubule basal body|perinuclear region of cytoplasm|protein complex protein C-terminus binding|protein kinase binding NS(1)|breast(2)|central_nervous_system(3)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(13)|lung(13)|ovary(4)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 45 Lung NSC(9;0.00156)|all_lung(11;0.00243) BRCA - Breast invasive adenocarcinoma(18;0.0106) GGACTGGAGCCGGGCCCGGGA 0.537000 8 6 0 0 0.00116845 0 0 FAM123B 139285 broad.mit.edu 37 X 63411267 63411267 + Missense_Mutation SNP G A A TCGA-EE-A2MQ-06A-11D-A197-08 TCGA-EE-A2MQ-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0853f3bd-b4a0-4c59-8370-60a5bd58ba85 860a8640-e651-4e9d-b4f0-d1dd589628ce g.chrX:63411267G>A uc022byb.1 - 0 1900 c.1900C>T c.(1900-1902)Cgt>Tgt p.R634C FAM123B_uc004dvo.3_Missense_Mutation_p.R634C NM_152424 NP_689637 Q5JTC6 F123B_HUMAN Homo sapiens family with sequence similarity 123B (FAM123B), mRNA. 634 Wnt receptor signaling pathway cytoplasm|nucleus|plasma membrane p.0?(67) NS(1)|breast(2)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(132)|large_intestine(35)|liver(1)|lung(33)|ovary(5)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1) 225 TCTCTACAACGAACCTCTCGG 0.612000 23 16 0 0 0.000958276 0 0 SSR1 6745 broad.mit.edu 37 6 7301720 7301720 + Silent SNP G A A TCGA-EE-A2MQ-06A-11D-A197-08 TCGA-EE-A2MQ-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0853f3bd-b4a0-4c59-8370-60a5bd58ba85 860a8640-e651-4e9d-b4f0-d1dd589628ce g.chr6:7301720G>A uc003mxf.4 - 3 554 c.366C>T c.(364-366)gcC>gcT p.A122A NM_003144 NP_003135 P43307 SSRA_HUMAN Homo sapiens signal sequence receptor, alpha (SSR1), mRNA. 122 cotranslational protein targeting to membrane|positive regulation of cell proliferation endoplasmic reticulum membrane|integral to membrane signal sequence binding NS(1)|endometrium(2)|large_intestine(3)|lung(2)|prostate(1) 9 Ovarian(93;0.0398) AACGGAATGAGGCATCTAAGG 0.403000 86 36 0 0 0.000953801 0 0 EXOC3L1 283849 broad.mit.edu 37 16 67221198 67221198 + Missense_Mutation SNP G A A TCGA-EE-A2MQ-06A-11D-A197-08 TCGA-EE-A2MQ-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0853f3bd-b4a0-4c59-8370-60a5bd58ba85 860a8640-e651-4e9d-b4f0-d1dd589628ce g.chr16:67221198G>A uc002erx.1 - 4 1211 c.970C>T c.(970-972)Ctt>Ttt p.L324F EXOC3L1_uc002erv.1_Non-coding_Transcript|EXOC3L1_uc002erw.1_Intron|EXOC3L1_uc010vje.1_Missense_Mutation_p.L263F|EXOC3L1_uc002ery.1_Missense_Mutation_p.L268F NM_178516 NP_848611 Q86VI1 EX3L1_HUMAN Homo sapiens exocyst complex component 3-like 1 (EXOC3L1), mRNA. 324 Mediates interaction with EXOC2, EXOC4 and EXOC5 (By similarity). exocytosis|peptide hormone secretion exocyst|stored secretory granule|transport vesicle breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(6)|ovary(1)|skin(3)|upper_aerodigestive_tract(1) 21 GGCCCTGCAAGGAGGTTCTGC 0.627000 22 14 0 0 0.000219431 0 0 WIPF2 147179 broad.mit.edu 37 17 38421357 38421357 + Missense_Mutation SNP G A A TCGA-EE-A2MQ-06A-11D-A197-08 TCGA-EE-A2MQ-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0853f3bd-b4a0-4c59-8370-60a5bd58ba85 860a8640-e651-4e9d-b4f0-d1dd589628ce g.chr17:38421357G>A uc002hug.1 + 4 1169 c.929G>A c.(928-930)aGg>aAg p.R310K WIPF2_uc002huh.1_Missense_Mutation_p.R160K|WIPF2_uc010cww.1_Missense_Mutation_p.R160K|WIPF2_uc002hui.1_Missense_Mutation_p.R310K|WIPF2_uc010cwx.1_Intron|WIPF2_uc010cwy.1_Missense_Mutation_p.R310K NM_133264 NP_573571 Q8TF74 WIPF2_HUMAN Homo sapiens WAS/WASL interacting protein family, member 2 (WIPF2), mRNA. 310 cytoplasm|cytoskeleton actin binding NS(1)|breast(1)|endometrium(2)|kidney(2)|large_intestine(4)|lung(6)|ovary(1)|pancreas(1)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(5) 30 CTGAGTAATAGGCCACCTCCC 0.552000 HNSCC(43;0.11) 17 12 0 0 0.00185496 0 0 CTDP1 9150 broad.mit.edu 37 18 77475254 77475254 + Silent SNP C T T TCGA-EE-A2MQ-06A-11D-A197-08 TCGA-EE-A2MQ-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0853f3bd-b4a0-4c59-8370-60a5bd58ba85 860a8640-e651-4e9d-b4f0-d1dd589628ce g.chr18:77475254C>T uc002lnh.2 + 7 1941 c.1794C>T c.(1792-1794)gtC>gtT p.V598V CTDP1_uc002lni.2_Silent_p.V598V|CTDP1_uc010drd.2_Silent_p.V598V|CTDP1_uc021ult.1_Silent_p.V479V NM_004715 NP_001189433 Q9Y5B0 CTDP1_HUMAN Homo sapiens CTD (carboxy-terminal domain, RNA polymerase II, polypeptide A) phosphatase, subunit 1 (CTDP1), transcript variant 1, mRNA. 598 positive regulation of viral transcription|protein dephosphorylation|transcription elongation from RNA polymerase II promoter|viral reproduction nucleoplasm CTD phosphatase activity|DNA-directed RNA polymerase activity p.L597L(1) autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(14)|ovary(2)|prostate(2)|urinary_tract(1) 35 Esophageal squamous(42;0.0157)|Melanoma(33;0.144) OV - Ovarian serous cystadenocarcinoma(15;5.2e-06)|BRCA - Breast invasive adenocarcinoma(31;0.0277) AGATCCTGGTCCGTGTACACA 0.587000 3 4 0 0 0.000602214 0 0 GLRA3 8001 broad.mit.edu 37 4 175598335 175598335 + Missense_Mutation SNP G A A TCGA-EE-A2MQ-06A-11D-A197-08 TCGA-EE-A2MQ-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0853f3bd-b4a0-4c59-8370-60a5bd58ba85 860a8640-e651-4e9d-b4f0-d1dd589628ce g.chr4:175598335G>A uc003ity.1 - 6 1324 c.821C>T c.(820-822)tCa>tTa p.S274L GLRA3_uc003itz.1_Missense_Mutation_p.S274L NM_006529 NP_006520 O75311 GLRA3_HUMAN Homo sapiens glycine receptor, alpha 3 (GLRA3), transcript variant 1, mRNA. 274 synaptic transmission cell junction|chloride channel complex|integral to plasma membrane|postsynaptic membrane extracellular-glycine-gated chloride channel activity|glycine binding|receptor activity|transmitter-gated ion channel activity endometrium(2)|kidney(1)|large_intestine(12)|lung(11)|ovary(3)|prostate(1)|skin(3)|stomach(1)|urinary_tract(1) 35 Prostate(90;0.00601)|Breast(14;0.0091)|Melanoma(52;0.00959)|Renal(120;0.0183)|all_neural(102;0.0891)|all_hematologic(60;0.107) all cancers(43;4.99e-18)|Epithelial(43;1.18e-16)|OV - Ovarian serous cystadenocarcinoma(60;5.88e-09)|STAD - Stomach adenocarcinoma(60;0.00442)|GBM - Glioblastoma multiforme(59;0.0102)|LUSC - Lung squamous cell carcinoma(193;0.0421) Glycine(DB00145) GATCCAGAATGAAACCCAGGA 0.478000 12 15 0 0 0.000566183 0 0 SLC25A12 8604 broad.mit.edu 37 2 172666182 172666182 + Silent SNP A C C TCGA-EE-A2MQ-06A-11D-A197-08 TCGA-EE-A2MQ-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0853f3bd-b4a0-4c59-8370-60a5bd58ba85 860a8640-e651-4e9d-b4f0-d1dd589628ce g.chr2:172666182A>C uc002uhh.2 - 12 1328 c.1239T>G c.(1237-1239)gtT>gtG p.V413V SLC25A12_uc010fqh.2_Silent_p.V306V NM_003705 NP_003696 O75746 CMC1_HUMAN Homo sapiens solute carrier family 25 (mitochondrial carrier, Aralar), member 12 (SLC25A12), nuclear gene encoding mitochondrial protein, mRNA. 413 gluconeogenesis|malate-aspartate shuttle|response to calcium ion integral to membrane|mitochondrial inner membrane L-aspartate transmembrane transporter activity|L-glutamate transmembrane transporter activity|calcium ion binding|protein binding endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|lung(10)|upper_aerodigestive_tract(1) 23 OV - Ovarian serous cystadenocarcinoma(117;0.216) L-Aspartic Acid(DB00128) ATTTGTCCCGAACAAAATCAT 0.393000 92 43 0 0 0.000680045 0 0 DISP1 84976 broad.mit.edu 37 1 223178735 223178735 + Silent SNP C T T TCGA-EE-A2MQ-06A-11D-A197-08 TCGA-EE-A2MQ-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0853f3bd-b4a0-4c59-8370-60a5bd58ba85 860a8640-e651-4e9d-b4f0-d1dd589628ce g.chr1:223178735C>T uc001hnu.2 + 9 4322 c.3996C>T c.(3994-3996)atC>atT p.I1332I NM_032890 NP_116279 Q96F81 DISP1_HUMAN Homo sapiens dispatched homolog 1 (Drosophila) (DISP1), mRNA. 1332 diaphragm development|protein homotrimerization|regulation of protein secretion|smoothened signaling pathway basolateral plasma membrane|integral to membrane hedgehog receptor activity|peptide transporter activity breast(1)|central_nervous_system(1)|cervix(1)|endometrium(7)|kidney(3)|large_intestine(20)|lung(25)|prostate(4)|skin(1)|stomach(1)|urinary_tract(5) 69 GBM - Glioblastoma multiforme(131;0.102) TCACGCACATCCACCACTGTC 0.567000 191 162 0 0 0.000781405 0 0 BRAF 673 broad.mit.edu 37 7 140453134 140453134 + Missense_Mutation SNP T C C rs121913377 TCGA-EE-A2MQ-06A-11D-A197-08 TCGA-EE-A2MQ-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0853f3bd-b4a0-4c59-8370-60a5bd58ba85 860a8640-e651-4e9d-b4f0-d1dd589628ce g.chr7:140453134T>C uc003vwc.4 - 14 1862 c.1801A>G c.(1801-1803)Aaa>Gaa p.K601E NM_004333 NP_004324 P15056 BRAF_HUMAN Homo sapiens v-raf murine sarcoma viral oncogene homolog B1 (BRAF), mRNA. 601 Protein kinase. K -> E (in colorectal cancer).|K -> Q (in CFC syndrome). activation of MAPKK activity|anti-apoptosis|nerve growth factor receptor signaling pathway|organ morphogenesis|positive regulation of peptidyl-serine phosphorylation|small GTPase mediated signal transduction|synaptic transmission cytosol|nucleus|plasma membrane ATP binding|metal ion binding p.V600E(25751)|p.V600?(377)|p.V600K(363)|p.K601E(117)|p.V600R(55)|p.V600_K601>E(30)|p.V600L(28)|p.V600D(24)|p.V600M(22)|p.V600A(12)|p.K601N(12)|p.V600G(11)|p.T599_V600insT(7)|p.K601del(5)|p.T599_R603>I(4)|p.K601Q(3)|p.T599_V600insTT(3)|p.V600Q(2)|p.T599_V600>IAL(2)|p.V600_S605>EK(2)|p.V600_S605>DV(2)|p.V600_S605>D(2)|p.V600_W604del(1)|p.K601K(1)|p.K601L(1)|p.K601R(1)|p.V600V(1)|p.T599_V600insDFGLAT(1)|p.T599_V600insV(1)|p.K601I(1)|p.V600>DLAT(1) SLC45A3/BRAF(2)|AGTRAP/BRAF(2)|FAM131B_ENST00000443739/BRAF(7)|AKAP9_ENST00000356239/BRAF(10)|KIAA1549/BRAF(703)|FCHSD1/BRAF(2) NS(588)|adrenal_gland(3)|autonomic_ganglia(3)|biliary_tract(29)|bone(7)|breast(21)|central_nervous_system(99)|cervix(6)|endometrium(33)|eye(72)|gastrointestinal_tract_(site_indeterminate)(2)|genital_tract(4)|haematopoietic_and_lymphoid_tissue(436)|kidney(3)|large_intestine(6953)|liver(17)|lung(192)|oesophagus(4)|ovary(275)|pancreas(15)|pituitary(1)|prostate(25)|salivary_gland(1)|skin(6285)|small_intestine(12)|soft_tissue(40)|stomach(11)|testis(7)|thyroid(12220)|upper_aerodigestive_tract(13)|urinary_tract(3) 27380 Melanoma(164;0.00956) Sorafenib(DB00398) CATCGAGATTTCACTGTAGCT 0.368000 61 """Mis, T, O""" """AKAP9, KIAA1549""" """melanoma, colorectal, papillary thyroid, borderline ov, Non small-cell lung cancer (NSCLC), cholangiocarcinoma, pilocytic astrocytoma""" Cardio-facio-cutaneous syndrome Cardiofaciocutaneous syndrome 46 56 0 0 0.000781405 0 0 C11orf82 220042 broad.mit.edu 37 11 82644950 82644950 + Missense_Mutation SNP A G G TCGA-EE-A2MQ-06A-11D-A197-08 TCGA-EE-A2MQ-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0853f3bd-b4a0-4c59-8370-60a5bd58ba85 860a8640-e651-4e9d-b4f0-d1dd589628ce g.chr11:82644950A>G uc001ozt.3 + 5 2814 c.2570A>G c.(2569-2571)cAt>cGt p.H857R C11orf82_uc010rsr.2_Missense_Mutation_p.H556R|C11orf82_uc010rss.2_Missense_Mutation_p.H556R|C11orf82_uc009yvd.2_Intron NM_145018 NP_659455 Q8IXT1 NOXIN_HUMAN Homo sapiens chromosome 11 open reading frame 82 (C11orf82), mRNA. 857 apoptosis|cell cycle arrest cytoplasm|nucleus haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|lung(17)|ovary(3)|prostate(1)|skin(1)|urinary_tract(1) 33 GCTGAGTGCCATGAAACTGAT 0.408000 30 19 0 0 0.00188189 0 0 CPPED1 55313 broad.mit.edu 37 16 12798735 12798735 + Missense_Mutation SNP C G G TCGA-EE-A2MQ-06A-11D-A197-08 TCGA-EE-A2MQ-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0853f3bd-b4a0-4c59-8370-60a5bd58ba85 860a8640-e651-4e9d-b4f0-d1dd589628ce g.chr16:12798735C>G uc002dca.4 - 2 572 c.461G>C c.(460-462)tGg>tCg p.W154S CPPED1_uc002dcb.4_Intron NM_018340 NP_060810 Q9BRF8 CPPED_HUMAN Homo sapiens calcineurin-like phosphoesterase domain containing 1 (CPPED1), transcript variant 1, mRNA. 154 hydrolase activity|metal ion binding cervix(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(10)|skin(1)|urinary_tract(1) 18 GCCCCCGACCCAGAAGCTGAA 0.612000 29 19 0 0 0.000958276 0 0 ARHGAP29 9411 broad.mit.edu 37 1 94654865 94654865 + Missense_Mutation SNP C T T TCGA-EE-A2MQ-06A-11D-A197-08 TCGA-EE-A2MQ-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0853f3bd-b4a0-4c59-8370-60a5bd58ba85 860a8640-e651-4e9d-b4f0-d1dd589628ce g.chr1:94654865C>T uc001dqj.4 - 13 1852 c.1483G>A c.(1483-1485)Gga>Aga p.G495R ARHGAP29_uc009wdq.1_Non-coding_Transcript|ARHGAP29_uc001dqk.3_Missense_Mutation_p.G61R NM_004815 NP_004806 Q52LW3 RHG29_HUMAN Homo sapiens Rho GTPase activating protein 29 (ARHGAP29), mRNA. 495 Rho protein signal transduction cytosol Rho GTPase activator activity|metal ion binding NS(1)|breast(5)|endometrium(6)|kidney(2)|large_intestine(9)|lung(19)|ovary(1)|skin(8)|upper_aerodigestive_tract(1)|urinary_tract(2) 54 all_lung(203;0.000732)|Lung NSC(277;0.00328) all cancers(265;0.0187)|Epithelial(280;0.159) TTGGCAGGTCCAAATCCTGAA 0.348000 32 13 0 0 0.000219431 0 0 IL3RA 3563 broad.mit.edu 37 X 1460723 1460723 + Splice_Site SNP G A A TCGA-EE-A2MQ-06A-11D-A197-08 TCGA-EE-A2MQ-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0853f3bd-b4a0-4c59-8370-60a5bd58ba85 860a8640-e651-4e9d-b4f0-d1dd589628ce g.chrX:1460723G>A uc004cps.3 + 2 413 c.64_splice c.e2+1 p.D22_splice CRLF2_uc022brt.1_Intron|IL3RA_uc011mhd.2_Splice_Site_p.G22_splice NM_002183 NP_002174 P26951 IL3RA_HUMAN Homo sapiens interleukin 3 receptor, alpha (low affinity) (IL3RA), mRNA. 22 integral to membrane|plasma membrane interleukin-3 receptor activity lung(1)|skin(2) 3 all_cancers(21;4.28e-07)|all_epithelial(21;2.07e-08)|all_lung(23;2.81e-05)|Lung NSC(23;0.000693)|Lung SC(21;0.122) Sargramostim(DB00020) ACGAAGGAAGGTAAGAACTGG 0.582000 84 44 0 0 0.000781405 0 0 DNAH17 8632 broad.mit.edu 37 17 76455961 76455961 + Silent SNP C A A TCGA-EE-A2MQ-06A-11D-A197-08 TCGA-EE-A2MQ-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0853f3bd-b4a0-4c59-8370-60a5bd58ba85 860a8640-e651-4e9d-b4f0-d1dd589628ce g.chr17:76455961C>A uc010dhp.2 - 59 9683 c.9558G>T c.(9556-9558)gcG>gcT p.A3186A DNAH17_uc002jvs.3_Non-coding_Transcript NM_173628 NP_775899 Homo sapiens dynein, axonemal, heavy chain 17 (DNAH17), mRNA. NS(2)|breast(7)|central_nervous_system(5)|cervix(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(1)|kidney(13)|large_intestine(8)|lung(37)|ovary(8)|prostate(7)|skin(4)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(3) 116 BRCA - Breast invasive adenocarcinoma(99;0.00294)|OV - Ovarian serous cystadenocarcinoma(97;0.0656) TGATCTTGGCCGCCTTCCAGC 0.597000 12 26 3.73148e-12 3.30561e-11 0.00127121 1 0 TMEM8C 389827 broad.mit.edu 37 9 136384008 136384008 + Silent SNP G A A TCGA-EE-A2MQ-06A-11D-A197-08 TCGA-EE-A2MQ-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0853f3bd-b4a0-4c59-8370-60a5bd58ba85 860a8640-e651-4e9d-b4f0-d1dd589628ce g.chr9:136384008G>A uc011mdk.2 - 2 489 c.387C>T c.(385-387)atC>atT p.I129I NM_001080483 NP_001073952 A6NI61 TMM8C_HUMAN Homo sapiens transmembrane protein 8C (TMEM8C), mRNA. 129 integral to membrane NS(1)|autonomic_ganglia(1)|large_intestine(2)|lung(4) 8 ACTTTGCCGCGATGATGAGGA 0.617000 7 19 0 0 0.00121646 0 0 SLC6A13 6540 broad.mit.edu 37 12 333178 333178 + Missense_Mutation SNP C T T TCGA-EE-A2MQ-06A-11D-A197-08 TCGA-EE-A2MQ-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0853f3bd-b4a0-4c59-8370-60a5bd58ba85 860a8640-e651-4e9d-b4f0-d1dd589628ce g.chr12:333178C>T uc001qic.2 - 10 1381 c.1291G>A c.(1291-1293)Ggg>Agg p.G431R SLC6A13_uc009zdj.2_Missense_Mutation_p.G421R|SLC6A13_uc010sdl.2_Missense_Mutation_p.G339R NM_016615 NP_057699 Q9NSD5 S6A13_HUMAN Homo sapiens solute carrier family 6 (neurotransmitter transporter, GABA), member 13 (SLC6A13), transcript variant 1, mRNA. 431 neurotransmitter secretion integral to plasma membrane gamma-aminobutyric acid:sodium symporter activity|neurotransmitter:sodium symporter activity NS(1)|autonomic_ganglia(1)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(7)|lung(11)|prostate(1)|urinary_tract(1) 28 all_cancers(10;0.0416)|all_epithelial(11;0.0537)|all_lung(10;0.0989)|Lung NSC(10;0.139)|Ovarian(42;0.142) OV - Ovarian serous cystadenocarcinoma(31;0.00153)|BRCA - Breast invasive adenocarcinoma(9;0.239) ATGATCAGCCCCACAAGGAAG 0.592000 29 11 0 0 0.00136819 0 0 PPL 5493 broad.mit.edu 37 16 4935885 4935885 + Missense_Mutation SNP C T T TCGA-EE-A2MQ-06A-11D-A197-08 TCGA-EE-A2MQ-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0853f3bd-b4a0-4c59-8370-60a5bd58ba85 860a8640-e651-4e9d-b4f0-d1dd589628ce g.chr16:4935885C>T uc002cyd.1 - 21 2861 c.2771G>A c.(2770-2772)aGg>aAg p.R924K NM_002705 NP_002696 O60437 PEPL_HUMAN Homo sapiens periplakin (PPL), mRNA. 924 keratinization cytoskeleton|desmosome|mitochondrion|nucleus protein binding|structural constituent of cytoskeleton breast(6)|central_nervous_system(1)|endometrium(11)|kidney(5)|large_intestine(12)|lung(12)|ovary(4)|prostate(5)|skin(3)|stomach(1)|urinary_tract(2) 62 CCCCTGATTCCTCAAGGTCCA 0.602000 60 45 0 0 0.000781405 0 0 CHD9 80205 broad.mit.edu 37 16 53190369 53190369 + Missense_Mutation SNP C T T TCGA-EE-A2MQ-06A-11D-A197-08 TCGA-EE-A2MQ-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0853f3bd-b4a0-4c59-8370-60a5bd58ba85 860a8640-e651-4e9d-b4f0-d1dd589628ce g.chr16:53190369C>T uc002ehb.3 + 0 532 c.368C>T c.(367-369)cCa>cTa p.P123L CHD9_uc002egy.3_Missense_Mutation_p.P123L|CHD9_uc002egz.1_Missense_Mutation_p.P123L|CHD9_uc002ehc.3_Missense_Mutation_p.P123L NM_025134 NP_079410 Q3L8U1 CHD9_HUMAN Homo sapiens chromodomain helicase DNA binding protein 9 (CHD9), mRNA. 123 cellular lipid metabolic process|chromatin modification|regulation of transcription, DNA-dependent|transcription, DNA-dependent cytoplasm|nucleoplasm ATP binding|DNA binding|helicase activity|protein binding NS(1)|breast(4)|central_nervous_system(1)|endometrium(5)|kidney(6)|large_intestine(21)|lung(32)|ovary(2)|prostate(2)|skin(2)|stomach(1)|urinary_tract(1) 78 all_cancers(37;0.0212) GATGGCAGTCCAATGTGGGGC 0.408000 125 70 0 0 0.000781405 0 0 CUL5 8065 broad.mit.edu 37 11 107959385 107959385 + Splice_Site SNP T C C TCGA-EE-A2MQ-06A-11D-A197-08 TCGA-EE-A2MQ-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0853f3bd-b4a0-4c59-8370-60a5bd58ba85 860a8640-e651-4e9d-b4f0-d1dd589628ce g.chr11:107959385T>C uc001pjv.3 + 12 1978 c.1311_splice c.e12+1 p.V437_splice CUL5_uc001pju.3_Splice_Site NM_003478 NP_003469 Q93034 CUL5_HUMAN Homo sapiens cullin 5 (CUL5), mRNA. 437 G1/S transition of mitotic cell cycle|cell cycle arrest|cell proliferation|induction of apoptosis by intracellular signals|interspecies interaction between organisms|negative regulation of cell proliferation|ubiquitin-dependent protein catabolic process|viral reproduction cullin-RING ubiquitin ligase complex|cytosol calcium channel activity|receptor activity|ubiquitin protein ligase binding endometrium(2)|kidney(1)|large_intestine(8)|lung(9)|ovary(1)|prostate(1)|skin(1) 23 all_cancers(61;7.09e-10)|all_epithelial(67;2.97e-06)|Acute lymphoblastic leukemia(157;3.95e-05)|Melanoma(852;4.48e-05)|all_hematologic(158;0.00014)|Breast(348;0.0258)|all_neural(303;0.072) BRCA - Breast invasive adenocarcinoma(274;3.58e-05)|Epithelial(105;4.68e-05)|all cancers(92;0.00122)|OV - Ovarian serous cystadenocarcinoma(223;0.217) CTTAAAGAAGTGGTACATGAA 0.313000 25 13 0 0 0.00136819 0 0 C1orf65 164127 broad.mit.edu 37 1 223568218 223568218 + Silent SNP G A A TCGA-EE-A2MQ-06A-11D-A197-08 TCGA-EE-A2MQ-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0853f3bd-b4a0-4c59-8370-60a5bd58ba85 860a8640-e651-4e9d-b4f0-d1dd589628ce g.chr1:223568218G>A uc001hoa.2 + 0 1504 c.1401G>A c.(1399-1401)agG>agA p.R467R NM_152610 NP_689823 Q8N715 CA065_HUMAN Homo sapiens chromosome 1 open reading frame 65 (C1orf65), mRNA. 467 breast(4)|central_nervous_system(2)|endometrium(2)|kidney(2)|large_intestine(4)|lung(12)|skin(3) 29 GBM - Glioblastoma multiforme(131;0.0704) AGGGCCTGAGGAAGGAGCGGC 0.617000 28 24 0 0 0.000375601 0 0 DPH1 1801 broad.mit.edu 37 17 1943613 1943613 + Missense_Mutation SNP C T T TCGA-EE-A2MQ-06A-11D-A197-08 TCGA-EE-A2MQ-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0853f3bd-b4a0-4c59-8370-60a5bd58ba85 860a8640-e651-4e9d-b4f0-d1dd589628ce g.chr17:1943613C>T uc010vqs.2 + 6 902 c.896C>T c.(895-897)tCc>tTc p.S299F DPH1_uc002fts.3_Missense_Mutation_p.S289F|DPH1_uc002ftt.3_Missense_Mutation_p.S273F|DPH1_uc010cjx.3_Missense_Mutation_p.S149F|DPH1_uc002ftv.3_Missense_Mutation_p.S45F|DPH1_uc002ftw.3_Missense_Mutation_p.S17F|OVCA2_uc002ftx.3_5'Flank NM_001383 NP_001374 Q9BZG8 DPH1_HUMAN Homo sapiens DPH1 homolog (S. cerevisiae) (DPH1), mRNA. 289 peptidyl-diphthamide biosynthetic process from peptidyl-histidine|translation cytoplasm|nucleus endometrium(3)|large_intestine(2)|lung(6)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1) 17 TCAGCTAAGTCCTGGGGCCTT 0.577000 21 21 0 0 0.00121646 0 0 SPEG 10290 broad.mit.edu 37 2 220354210 220354210 + Missense_Mutation SNP C T T TCGA-EE-A2MQ-06A-11D-A197-08 TCGA-EE-A2MQ-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0853f3bd-b4a0-4c59-8370-60a5bd58ba85 860a8640-e651-4e9d-b4f0-d1dd589628ce g.chr2:220354210C>T uc010fwg.3 + 35 8470 c.8470C>T c.(8470-8472)Ccc>Tcc p.P2824S NM_005876 NP_005867 Q15772 SPEG_HUMAN Homo sapiens SPEG complex locus (SPEG), transcript variant 1, mRNA. 2824 Pro-rich. muscle organ development|negative regulation of cell proliferation nucleus ATP binding|protein serine/threonine kinase activity breast(2)|central_nervous_system(3)|endometrium(10)|kidney(2)|large_intestine(9)|lung(42)|ovary(5)|pancreas(1)|prostate(8)|skin(1)|stomach(9)|upper_aerodigestive_tract(4)|urinary_tract(4) 100 Renal(207;0.0183) Epithelial(149;4.5e-10)|all cancers(144;7.93e-08)|Lung(261;0.00639)|LUSC - Lung squamous cell carcinoma(224;0.00829)|READ - Rectum adenocarcinoma(5;0.163) CCCCTCATCTCCCCCCACACC 0.692000 19 18 0 0 0.000958276 0 0 NDST4 64579 broad.mit.edu 37 4 115754787 115754787 + Missense_Mutation SNP G A A TCGA-EE-A2MQ-06A-11D-A197-08 TCGA-EE-A2MQ-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0853f3bd-b4a0-4c59-8370-60a5bd58ba85 860a8640-e651-4e9d-b4f0-d1dd589628ce g.chr4:115754787G>A uc003ibu.3 - 11 3050 c.2371C>T c.(2371-2373)Cgt>Tgt p.R791C NDST4_uc010imw.3_Non-coding_Transcript NM_022569 NP_072091 Q9H3R1 NDST4_HUMAN Homo sapiens N-deacetylase/N-sulfotransferase (heparan glucosaminyl) 4 (NDST4), mRNA. 791 Heparan sulfate N-sulfotransferase 4. Golgi membrane|integral to membrane [heparan sulfate]-glucosamine N-sulfotransferase activity|hydrolase activity p.R791P(1) NS(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(4)|large_intestine(5)|lung(43)|ovary(1)|prostate(7)|skin(11)|upper_aerodigestive_tract(1)|urinary_tract(1) 81 Ovarian(17;0.156) OV - Ovarian serous cystadenocarcinoma(123;0.000562) TAATTATAACGAGGTGTAACT 0.378000 11 14 0 0 0.000308642 0 0 ESRP1 54845 broad.mit.edu 37 8 95683873 95683873 + Missense_Mutation SNP G A A TCGA-EE-A2MQ-06A-11D-A197-08 TCGA-EE-A2MQ-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0853f3bd-b4a0-4c59-8370-60a5bd58ba85 860a8640-e651-4e9d-b4f0-d1dd589628ce g.chr8:95683873G>A uc003ygq.4 + 10 1609 c.1426G>A c.(1426-1428)Ggg>Agg p.G476R ESRP1_uc003ygr.4_Missense_Mutation_p.G476R|ESRP1_uc003ygs.4_Missense_Mutation_p.G476R|ESRP1_uc003ygt.4_Missense_Mutation_p.G476R|ESRP1_uc003ygu.4_Missense_Mutation_p.G476R|ESRP1_uc003ygv.3_Missense_Mutation_p.G316R|ESRP1_uc003ygw.3_Missense_Mutation_p.G316R NM_017697 NP_060167 Q6NXG1 ESRP1_HUMAN Homo sapiens epithelial splicing regulatory protein 1 (ESRP1), transcript variant 1, mRNA. 476 RRM 3. RNA splicing|mRNA processing|regulation of RNA splicing nucleus|plasma membrane mRNA binding|nucleotide binding ESRP1/RAF1(4) NS(1)|central_nervous_system(1)|endometrium(6)|kidney(1)|large_intestine(2)|lung(6)|prostate(1)|urinary_tract(2) 20 TCGTACTCATGGGGTTCACAT 0.398000 223 152 0 0 0.000781405 0 0 SEMA3A 10371 broad.mit.edu 37 7 83689827 83689827 + Silent SNP C T T TCGA-EE-A2MQ-06A-11D-A197-08 TCGA-EE-A2MQ-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0853f3bd-b4a0-4c59-8370-60a5bd58ba85 860a8640-e651-4e9d-b4f0-d1dd589628ce g.chr7:83689827C>T uc003uhz.3 - 4 816 c.501G>A c.(499-501)ggG>ggA p.G167G NM_006080 NP_006071 Q14563 SEM3A_HUMAN Homo sapiens sema domain, immunoglobulin domain (Ig), short basic domain, secreted, (semaphorin) 3A (SEMA3A), mRNA. 167 Sema. axon guidance extracellular region|membrane receptor activity breast(3)|cervix(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(12)|liver(1)|lung(22)|ovary(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1) 53 ATGGACTCTTCCCACGGCCGT 0.348000 95 126 0 0 0.000781405 0 0 OR2W3 343171 broad.mit.edu 37 1 248059344 248059344 + Silent SNP G A A TCGA-EE-A2MQ-06A-11D-A197-08 TCGA-EE-A2MQ-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0853f3bd-b4a0-4c59-8370-60a5bd58ba85 860a8640-e651-4e9d-b4f0-d1dd589628ce g.chr1:248059344G>A uc010pzb.2 + 0 456 c.456G>A c.(454-456)ggG>ggA p.G152G OR2W3_uc001idp.1_Silent_p.G152G NM_001001957 NP_001001957 Q7Z3T1 OR2W3_HUMAN Homo sapiens olfactory receptor, family 2, subfamily W, member 3 (OR2W3), mRNA. 152 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity breast(1)|kidney(2)|large_intestine(2)|lung(33)|ovary(1)|pancreas(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(3) 49 all_cancers(71;0.000139)|all_epithelial(71;1.58e-05)|Breast(184;0.0117)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136) OV - Ovarian serous cystadenocarcinoma(106;0.0319) GGGGCTGTGGGGTGGCCAACT 0.632000 35 7 0 0 8.12818e-05 0 0 ADAMTS18 170692 broad.mit.edu 37 16 77328904 77328904 + Silent SNP G A A TCGA-EE-A2MQ-06A-11D-A197-08 TCGA-EE-A2MQ-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0853f3bd-b4a0-4c59-8370-60a5bd58ba85 860a8640-e651-4e9d-b4f0-d1dd589628ce g.chr16:77328904G>A uc002ffc.4 - 18 3341 c.2922C>T c.(2920-2922)ctC>ctT p.L974L ADAMTS18_uc010chc.1_Silent_p.L562L NM_199355 NP_955387 Q8TE60 ATS18_HUMAN Homo sapiens ADAM metallopeptidase with thrombospondin type 1 motif, 18 (ADAMTS18), mRNA. 974 TSP type-1 2. proteolysis proteinaceous extracellular matrix metalloendopeptidase activity|zinc ion binding NS(1)|breast(5)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|kidney(9)|large_intestine(26)|lung(44)|ovary(2)|pancreas(1)|prostate(1)|skin(19)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 118 TCACTGGACAGAGAGAATGCA 0.552000 25 20 0 0 0.00152264 0 0 MYH4 4622 broad.mit.edu 37 17 10358527 10358527 + Missense_Mutation SNP C T T TCGA-EE-A2MQ-06A-11D-A197-08 TCGA-EE-A2MQ-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0853f3bd-b4a0-4c59-8370-60a5bd58ba85 860a8640-e651-4e9d-b4f0-d1dd589628ce g.chr17:10358527C>T uc002gmn.3 - 19 2371 c.2260G>A c.(2260-2262)Gaa>Aaa p.E754K AK097500_uc002gml.1_Intron NM_017533 NP_060003 Q9Y623 MYH4_HUMAN Homo sapiens myosin, heavy chain 4, skeletal muscle (MYH4), mRNA. 754 Myosin head-like. muscle filament sliding muscle myosin complex|myosin filament|sarcomere ATP binding|actin binding|calmodulin binding|microfilament motor activity|structural constituent of muscle NS(4)|breast(8)|central_nervous_system(2)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(13)|lung(72)|ovary(10)|prostate(7)|skin(9)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(3) 149 TGGTCAATTTCAATAGACCCT 0.393000 18 27 0 0 0.000878237 0 0 CYLC2 1539 broad.mit.edu 37 9 105767302 105767302 + Missense_Mutation SNP C T T TCGA-EE-A2MQ-06A-11D-A197-08 TCGA-EE-A2MQ-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0853f3bd-b4a0-4c59-8370-60a5bd58ba85 860a8640-e651-4e9d-b4f0-d1dd589628ce g.chr9:105767302C>T uc004bbs.2 + 4 459 c.389C>T c.(388-390)tCg>tTg p.S130L NM_001340 NP_001331 Q14093 CYLC2_HUMAN Homo sapiens cylicin, basic protein of sperm head cytoskeleton 2 (CYLC2), mRNA. 130 31 X 3 AA repeats of K-K-X. cell differentiation|multicellular organismal development|spermatogenesis cytoskeletal calyx structural constituent of cytoskeleton NS(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(14)|ovary(1)|skin(5)|stomach(5)|upper_aerodigestive_tract(2) 41 all_hematologic(171;0.125) ACAACAGATTCGGAATCAGAA 0.318000 6 13 0 0 0.00136819 0 0 PCDHAC2 56134 broad.mit.edu 37 5 140237184 140237184 + Nonsense_Mutation SNP C G G TCGA-EE-A2MQ-06A-11D-A197-08 TCGA-EE-A2MQ-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0853f3bd-b4a0-4c59-8370-60a5bd58ba85 860a8640-e651-4e9d-b4f0-d1dd589628ce g.chr5:140237184C>G uc003lhx.2 + 0 1551 c.1551C>G c.(1549-1551)taC>taG p.Y517* 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_Nonsense_Mutation_p.Y517*|PCDHAC2_uc011dad.2_Nonsense_Mutation_p.Y517* NM_018901 NP_061724 Q9Y5I4 PCDC2_HUMAN Homo sapiens protocadherin alpha 10 (PCDHA10), transcript variant 1, mRNA. 532 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) GCAAGGTGTACGCGCTGCAGC 0.682000 37 34 0 0 0.000953801 0 0 NRK 203447 broad.mit.edu 37 X 105132293 105132293 + Missense_Mutation SNP G A A TCGA-EE-A2MQ-06A-11D-A197-08 TCGA-EE-A2MQ-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0853f3bd-b4a0-4c59-8370-60a5bd58ba85 860a8640-e651-4e9d-b4f0-d1dd589628ce g.chrX:105132293G>A uc004emd.3 + 4 562 c.259G>A c.(259-261)Gaa>Aaa p.E87K NRK_uc010npc.1_5'UTR NM_198465 NP_940867 Q7Z2Y5 NRK_HUMAN Homo sapiens Nik related kinase (NRK), mRNA. 87 Protein kinase. ATP binding|protein serine/threonine kinase activity|small GTPase regulator activity breast(8)|central_nervous_system(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(14)|lung(36)|ovary(3)|prostate(1)|skin(2) 76 ATAGGATGAGGAAGAGGATCT 0.408000 HNSCC(51;0.14) 8 4 0 0 0.00024832 0 0 MANBA 4126 broad.mit.edu 37 4 103556010 103556010 + Missense_Mutation SNP G A A TCGA-EE-A2MQ-06A-11D-A197-08 TCGA-EE-A2MQ-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0853f3bd-b4a0-4c59-8370-60a5bd58ba85 860a8640-e651-4e9d-b4f0-d1dd589628ce g.chr4:103556010G>A uc003hwg.3 - 15 2450 c.2350C>T c.(2350-2352)Ccg>Tcg p.P784S MANBA_uc011ces.2_Missense_Mutation_p.P727S NM_005908 NP_005899 O00462 MANBA_HUMAN Homo sapiens mannosidase, beta A, lysosomal (MANBA), mRNA. 784 carbohydrate metabolic process|protein modification process lysosome beta-mannosidase activity|cation binding cervix(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(10)|lung(12)|ovary(1)|prostate(3)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 42 Hepatocellular(203;0.217) OV - Ovarian serous cystadenocarcinoma(123;4.44e-08) TAGTTGGTCGGGCTCAGGAGT 0.557000 8 15 0 0 0.00074312 0 0 MUT 4594 broad.mit.edu 37 6 49416546 49416546 + Missense_Mutation SNP T G G TCGA-EE-A2MQ-06A-11D-A197-08 TCGA-EE-A2MQ-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0853f3bd-b4a0-4c59-8370-60a5bd58ba85 860a8640-e651-4e9d-b4f0-d1dd589628ce g.chr6:49416546T>G uc003ozg.4 - 6 1692 c.1427A>C c.(1426-1428)cAa>cCa p.Q476P NM_000255 NP_000246 P22033 MUTA_HUMAN Homo sapiens methylmalonyl CoA mutase (MUT), nuclear gene encoding mitochondrial protein, mRNA. 476 fatty acid beta-oxidation mitochondrial matrix cobalamin binding|metal ion binding|methylmalonyl-CoA mutase activity endometrium(2)|kidney(1)|large_intestine(4)|lung(17)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1) 30 Lung NSC(77;0.0376) Cyanocobalamin(DB00115)|Hydroxocobalamin(DB00200) TATTCTAGCTTGTCTTCGGGC 0.338000 77 71 0 0 0.000781405 0 0 GCOM1 145781 broad.mit.edu 37 15 57913876 57913876 + Missense_Mutation SNP G A A TCGA-EE-A2MQ-06A-11D-A197-08 TCGA-EE-A2MQ-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0853f3bd-b4a0-4c59-8370-60a5bd58ba85 860a8640-e651-4e9d-b4f0-d1dd589628ce g.chr15:57913876G>A uc002aei.3 + 3 520 c.389G>A c.(388-390)cGa>cAa p.R130Q GCOM1_uc002aej.3_Missense_Mutation_p.R130Q|GCOM1_uc002aek.3_Intron|GCOM1_uc002ael.3_Intron|GCOM1_uc002aem.3_Missense_Mutation_p.R130Q|GCOM1_uc002aep.3_Non-coding_Transcript|GCOM1_uc010bfx.3_Non-coding_Transcript|GCOM1_uc002aeq.3_Non-coding_Transcript|GCOM1_uc002aen.3_Non-coding_Transcript|GCOM1_uc010bfy.3_Non-coding_Transcript|GCOM1_uc002aeo.3_Missense_Mutation_p.R130Q NM_001018100 NP_001018110 P0CAP1 GCOM1_HUMAN Homo sapiens myocardial zonula adherens protein (MYZAP), transcript variant 1, mRNA. 130 intracellular signal transduction I band|extrinsic to internal side of plasma membrane endometrium(1)|kidney(2)|large_intestine(9)|liver(1)|lung(1)|ovary(1)|skin(2)|stomach(1) 18 CAGAAGATTCGACAGCTCACC 0.468000 90 48 0 0 0.000781405 0 0 ZBTB37 84614 broad.mit.edu 37 1 173839909 173839909 + Silent SNP G A A TCGA-EE-A2MQ-06A-11D-A197-08 TCGA-EE-A2MQ-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0853f3bd-b4a0-4c59-8370-60a5bd58ba85 860a8640-e651-4e9d-b4f0-d1dd589628ce g.chr1:173839909G>A uc009wwp.1 + 2 822 c.546G>A c.(544-546)ctG>ctA p.L182L GAS5_uc001gjj.3_5'Flank|GAS5_uc001gjk.3_5'Flank|ZBTB37_uc001gjp.1_Silent_p.L182L|ZBTB37_uc001gjq.4_Silent_p.L182L|ZBTB37_uc001gjr.2_Silent_p.L182L NM_001122770 NP_001116242 Q5TC79 ZBT37_HUMAN Homo sapiens zinc finger and BTB domain containing 37 (ZBTB37), transcript variant 1, mRNA. 182 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding endometrium(1)|large_intestine(1)|lung(4)|ovary(1)|prostate(1)|skin(1)|urinary_tract(4) 13 GTGCTGTGCTGGATATCAGAG 0.532000 42 40 0 0 0.00170553 0 0 ABCG8 64241 broad.mit.edu 37 2 44102292 44102292 + Missense_Mutation SNP G A A TCGA-EE-A2MQ-06A-11D-A197-08 TCGA-EE-A2MQ-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0853f3bd-b4a0-4c59-8370-60a5bd58ba85 860a8640-e651-4e9d-b4f0-d1dd589628ce g.chr2:44102292G>A uc002rtq.3 + 10 1586 c.1496G>A c.(1495-1497)gGg>gAg p.G499E ABCG8_uc010yoa.2_Missense_Mutation_p.G498E NM_022437 NP_071882 Q9H221 ABCG8_HUMAN Homo sapiens ATP-binding cassette, sub-family G (WHITE), member 8 (ABCG8), mRNA. 499 ABC transmembrane type-2. cholesterol efflux|cholesterol homeostasis|excretion|lipid metabolic process|negative regulation of intestinal cholesterol absorption|negative regulation of intestinal phytosterol absorption apical plasma membrane|integral to membrane ATP binding|ATPase activity|protein heterodimerization activity NS(1)|breast(2)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(5)|lung(21)|ovary(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(1) 45 all_hematologic(82;0.151)|Acute lymphoblastic leukemia(82;0.175) CAGATCCTCGGGGAGCTTCCG 0.542000 161 112 0 0 0.000781405 0 0 HEPHL1 341208 broad.mit.edu 37 11 93800808 93800808 + Missense_Mutation SNP C T T TCGA-EE-A2MQ-06A-11D-A197-08 TCGA-EE-A2MQ-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0853f3bd-b4a0-4c59-8370-60a5bd58ba85 860a8640-e651-4e9d-b4f0-d1dd589628ce g.chr11:93800808C>T uc001pep.2 + 4 1112 c.955C>T c.(955-957)Cgg>Tgg p.R319W AF086184_uc001pen.1_Non-coding_Transcript NM_001098672 NP_001092142 Q6MZM0 HPHL1_HUMAN Homo sapiens hephaestin-like 1 (HEPHL1), mRNA. 319 Plastocyanin-like 2. copper ion transport integral to membrane copper ion binding|oxidoreductase activity NS(2)|breast(4)|central_nervous_system(1)|endometrium(5)|kidney(2)|large_intestine(11)|lung(25)|ovary(3)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(3) 61 Acute lymphoblastic leukemia(157;2.34e-05)|all_hematologic(158;0.00824) CAGAGGGCATCGGACTGATGT 0.473000 93 58 0 0 0.000781405 0 0 CPAMD8 27151 broad.mit.edu 37 19 17049249 17049250 + Missense_Mutation DNP CC TT TT TCGA-EE-A2MQ-06A-11D-A197-08 TCGA-EE-A2MQ-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0853f3bd-b4a0-4c59-8370-60a5bd58ba85 860a8640-e651-4e9d-b4f0-d1dd589628ce g.chr19:17049249_17049250CC>TT uc002nfb.3 - 22 2973_2974 c.2941_2942GG>AA c.(2941-2943)gga>AAa p.G981K NM_015692 NP_056507 Q8IZJ3 CPMD8_HUMAN Homo sapiens C3 and PZP-like, alpha-2-macroglobulin domain containing 8 (CPAMD8), mRNA. 934 extracellular space|plasma membrane serine-type endopeptidase inhibitor activity breast(11)|central_nervous_system(3)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(17)|lung(14)|ovary(7)|pancreas(2)|prostate(4)|skin(5) 82 CCGGGGGACTCCTTCCGCCTGA 0.599000 7 3 0 0 6.4e-05 0 0 PDZD4 57595 broad.mit.edu 37 X 153070562 153070563 + Missense_Mutation DNP GG AA AA TCGA-EE-A2MQ-06A-11D-A197-08 TCGA-EE-A2MQ-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0853f3bd-b4a0-4c59-8370-60a5bd58ba85 860a8640-e651-4e9d-b4f0-d1dd589628ce g.chrX:153070562_153070563GG>AA uc004fja.1 - 6 1019_1020 c.769_770CC>TT c.(769-771)cct>TTt p.P257F PDZD4_uc004fiy.1_Missense_Mutation_p.P176F|PDZD4_uc004fiz.1_Missense_Mutation_p.P251F|PDZD4_uc004fix.2_Missense_Mutation_p.P155F|PDZD4_uc011mze.1_Missense_Mutation_p.P142F|PDZD4_uc022chy.1_5'Flank NM_032512 NP_115901 Q76G19 PDZD4_HUMAN Homo sapiens PDZ domain containing 4 (PDZD4), mRNA. 251 cell cortex breast(3)|cervix(1)|endometrium(5)|lung(13)|skin(1) 23 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) CTGCTGGGCAGGGGGTGATTTC 0.604000 36 42 0 0 6.4e-05 0 0 MLL2 8085 broad.mit.edu 37 12 49421020 49421021 + Missense_Mutation DNP GG AA AA TCGA-EE-A2MQ-06A-11D-A197-08 TCGA-EE-A2MQ-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0853f3bd-b4a0-4c59-8370-60a5bd58ba85 860a8640-e651-4e9d-b4f0-d1dd589628ce g.chr12:49421020_49421021GG>AA uc001rta.4 - 47 14728_14729 c.14728_14729CC>TT c.(14728-14730)cct>TTt p.P4910F NM_003482 NP_003473 O14686 MLL2_HUMAN Homo sapiens myeloid/lymphoid or mixed-lineage leukemia 2 (MLL2), mRNA. 4910 Pro-rich. chromatin silencing|histone H3-K4 methylation|oocyte growth|positive regulation of cell proliferation|positive regulation of estrogen receptor signaling pathway|positive regulation of transcription from RNA polymerase II promoter|response to estrogen stimulus|transcription, DNA-dependent histone methyltransferase complex histone-lysine N-methyltransferase activity|protein binding|transcription regulatory region DNA binding|zinc ion binding p.R4909L(1) NS(1)|breast(4)|central_nervous_system(38)|cervix(3)|endometrium(22)|haematopoietic_and_lymphoid_tissue(121)|kidney(35)|large_intestine(22)|lung(78)|ovary(3)|pancreas(2)|prostate(13)|skin(7)|stomach(3)|upper_aerodigestive_tract(9)|urinary_tract(5) 366 TTCTTCAGGAGGTGGGGCCGAG 0.629000 """N, F, Mis""" """medulloblastoma, renal""" HNSCC(34;0.089) 73 50 0 0 6.4e-05 0 0 VWA7 80737 broad.mit.edu 37 6 31741162 31741163 + Missense_Mutation DNP CC AA AA TCGA-EE-A2MQ-06A-11D-A197-08 TCGA-EE-A2MQ-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0853f3bd-b4a0-4c59-8370-60a5bd58ba85 860a8640-e651-4e9d-b4f0-d1dd589628ce g.chr6:31741162_31741163CC>AA uc011dog.2 - 5 1011_1012 c.773_774GG>TT c.(772-774)agg>aTT p.R258I VWA7_uc003nxd.2_Intron|VWA7_uc011doh.1_Intron NM_025258 NP_079534 Q9Y334 G7C_HUMAN Homo sapiens von Willebrand factor A domain containing 7 (VWA7), mRNA. 258 extracellular region TGATGCCTCCCCTCGGTGGCTG 0.604000 472 12 0 0 6.4e-05 0 0 ADAMTS16 170690 broad.mit.edu 37 5 5182218 5182218 + Missense_Mutation SNP C T T TCGA-EE-A2MQ-06A-11D-A197-08 TCGA-EE-A2MQ-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0853f3bd-b4a0-4c59-8370-60a5bd58ba85 860a8640-e651-4e9d-b4f0-d1dd589628ce g.chr5:5182218C>T uc003jdl.3 + 3 701 c.563C>T c.(562-564)tCa>tTa p.S188L ADAMTS16_uc003jdk.1_Missense_Mutation_p.S188L|ADAMTS16_uc003jdj.1_Missense_Mutation_p.S188L NM_139056 NP_620687 Q8TE57 ATS16_HUMAN Homo sapiens ADAM metallopeptidase with thrombospondin type 1 motif, 16 (ADAMTS16), mRNA. 188 proteolysis proteinaceous extracellular matrix metalloendopeptidase activity|zinc ion binding breast(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|lung(72)|ovary(4)|pancreas(1)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 107 TCACACCTCTCATGGAAACTC 0.502000 19 20 0 0 0.00152264 0 0 ATP7A 538 broad.mit.edu 37 X 77245141 77245141 + Silent SNP G A A TCGA-EE-A2MQ-06A-11D-A197-08 TCGA-EE-A2MQ-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0853f3bd-b4a0-4c59-8370-60a5bd58ba85 860a8640-e651-4e9d-b4f0-d1dd589628ce g.chrX:77245141G>A uc004ecx.4 + 3 1183 c.1023G>A c.(1021-1023)ggG>ggA p.G341G ATP7A_uc004ecw.2_Silent_p.G341G NM_000052 NP_000043 Q04656 ATP7A_HUMAN Homo sapiens ATPase, Cu++ transporting, alpha polypeptide (ATP7A), mRNA. 341 HMA 3. ATP biosynthetic process|T-helper cell differentiation|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|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 TATCACCGGGGCTATATAGAG 0.428000 137 92 0 0 0.000781405 0 0 SCAF11 9169 broad.mit.edu 37 12 46321226 46321226 + Missense_Mutation SNP G A A TCGA-EE-A2MQ-06A-11D-A197-08 TCGA-EE-A2MQ-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0853f3bd-b4a0-4c59-8370-60a5bd58ba85 860a8640-e651-4e9d-b4f0-d1dd589628ce g.chr12:46321226G>A uc001rox.3 - 10 2545 c.2258C>T c.(2257-2259)tCt>tTt p.S753F SCAF11_uc001row.3_Missense_Mutation_p.S438F|SCAF11_uc001roy.1_Missense_Mutation_p.S827F NM_004719 NP_004710 Q99590 SCAFB_HUMAN Homo sapiens SR-related CTD-associated factor 11 (SCAF11), mRNA. 753 spliceosome assembly nucleus protein binding|zinc ion binding breast(2)|central_nervous_system(1)|endometrium(2)|kidney(8)|large_intestine(17)|lung(25)|ovary(3)|pancreas(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(3) 69 ATTATTTTCAGAACAGTGTGT 0.353000 54 35 0 0 0.000814825 0 0 PTPN23 25930 broad.mit.edu 37 3 47449887 47449887 + Missense_Mutation SNP G A A TCGA-EE-A2MQ-06A-11D-A197-08 TCGA-EE-A2MQ-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0853f3bd-b4a0-4c59-8370-60a5bd58ba85 860a8640-e651-4e9d-b4f0-d1dd589628ce g.chr3:47449887G>A uc003crf.1 + 14 1333 c.1237G>A c.(1237-1239)Gcc>Acc p.A413T PTPN23_uc011baw.1_Missense_Mutation_p.A378T|PTPN23_uc011bax.1_Non-coding_Transcript|PTPN23_uc011bay.1_Missense_Mutation_p.A283T NM_015466 NP_056281 Q9H3S7 PTN23_HUMAN Homo sapiens protein tyrosine phosphatase, non-receptor type 23 (PTPN23), mRNA. 413 cilium morphogenesis cilium|cytoplasmic membrane-bounded vesicle|microtubule basal body protein tyrosine phosphatase activity breast(3)|central_nervous_system(1)|large_intestine(5)|lung(7)|prostate(2)|skin(4)|upper_aerodigestive_tract(1) 23 BRCA - Breast invasive adenocarcinoma(193;0.000271)|KIRC - Kidney renal clear cell carcinoma(197;0.00558)|Kidney(197;0.00632) CAACCTTGATGCCTACAGCCA 0.587000 26 22 0 0 0.000375601 0 0 NOTCH2NL 388677 broad.mit.edu 37 1 145273371 145273371 + Silent SNP T C C TCGA-EE-A2MQ-06A-11D-A197-08 TCGA-EE-A2MQ-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0853f3bd-b4a0-4c59-8370-60a5bd58ba85 860a8640-e651-4e9d-b4f0-d1dd589628ce g.chr1:145273371T>C uc001emn.4 + 2 595 c.225T>C c.(223-225)ccT>ccC p.P75P NBPF10_uc021ots.1_Intron|NBPF10_uc010oye.2_Intron|NOTCH2NL_uc001emm.4_Silent_p.P75P|NOTCH2NL_uc001emo.2_Silent_p.P75P|NBPF10_uc010oyh.1_Non-coding_Transcript|NBPF10_uc021ouk.1_5'UTR NM_203458 NP_982283 Q7Z3S9 NT2NL_HUMAN Homo sapiens notch 2 N-terminal like (NOTCH2NL), mRNA. 75 EGF-like 3. Notch signaling pathway|cell differentiation|multicellular organismal development cytoplasm|extracellular region calcium ion binding p.R74*(1) NS(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(10)|ovary(1)|prostate(1)|skin(2)|urinary_tract(1) 27 TGTCTCGACCTTGCCTGAATG 0.547000 891 17 0 0 0.000781405 0 0 COL9A1 1297 broad.mit.edu 37 6 70944568 70944568 + Missense_Mutation SNP C T T TCGA-EE-A2MQ-06A-11D-A197-08 TCGA-EE-A2MQ-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0853f3bd-b4a0-4c59-8370-60a5bd58ba85 860a8640-e651-4e9d-b4f0-d1dd589628ce g.chr6:70944568C>T uc003pfg.4 - 33 2347 c.2188G>A c.(2188-2190)Gga>Aga p.G730R COL9A1_uc003pfe.4_Missense_Mutation_p.G279R|COL9A1_uc003pff.4_Missense_Mutation_p.G487R NM_001851 NP_001842 P20849 CO9A1_HUMAN Homo sapiens collagen, type IX, alpha 1 (COL9A1), transcript variant 1, mRNA. 730 Triple-helical region (COL2). axon guidance|cell adhesion|organ morphogenesis collagen type IX metal ion binding breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(10)|lung(44)|ovary(5)|prostate(2)|skin(6)|stomach(1)|upper_aerodigestive_tract(4) 80 CCAGGTGGTCCTCTTGGTCCT 0.627000 16 11 0 0 0.00136819 0 0 ZNF142 7701 broad.mit.edu 37 2 219507273 219507273 + Missense_Mutation SNP C G G TCGA-EE-A2MQ-06A-11D-A197-08 TCGA-EE-A2MQ-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0853f3bd-b4a0-4c59-8370-60a5bd58ba85 860a8640-e651-4e9d-b4f0-d1dd589628ce g.chr2:219507273C>G uc002vin.3 - 7 4402 c.3966G>C c.(3964-3966)gaG>gaC p.E1322D ZNF142_uc002vil.3_Missense_Mutation_p.E1283D|ZNF142_uc010fvt.3_Missense_Mutation_p.E1159D|ZNF142_uc002vim.3_Missense_Mutation_p.E1159D NM_001105537 NP_001099007 P52746 ZN142_HUMAN Homo sapiens zinc finger protein 142 (ZNF142), mRNA. 1322 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding breast(7)|endometrium(7)|large_intestine(5)|lung(12)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(1) 38 Renal(207;0.0474) Epithelial(149;5.21e-07)|all cancers(144;0.000106)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00948) CCTCAGTGGTCTCTGCAGGAG 0.637000 29 16 0 0 0.00074312 0 0 EBF3 253738 broad.mit.edu 37 10 131671784 131671784 + Missense_Mutation SNP G A A TCGA-EE-A2MQ-06A-11D-A197-08 TCGA-EE-A2MQ-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0853f3bd-b4a0-4c59-8370-60a5bd58ba85 860a8640-e651-4e9d-b4f0-d1dd589628ce g.chr10:131671784G>A uc021qav.1 - 7 772 c.671C>T c.(670-672)tCc>tTc p.S224F EBF3_uc001lki.2_Missense_Mutation_p.S238F NM_001005463 NP_001005463 Q9H4W6 COE3_HUMAN Homo sapiens early B-cell factor 3 (EBF3), mRNA. 238 multicellular organismal development|regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|metal ion binding|protein binding p.G223G(1) central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(8)|lung(23)|ovary(1)|pancreas(1)|prostate(1)|skin(1) 44 all_cancers(35;1.8e-08)|all_epithelial(44;8.26e-08)|Lung NSC(174;0.0091)|all_lung(145;0.0123)|Breast(234;0.039)|all_neural(114;0.0722)|Colorectal(57;0.0764) OV - Ovarian serous cystadenocarcinoma(35;0.00513) CCCGTGTTTGGAATTGTTGTG 0.498000 31 22 0 0 0.00152264 0 0 ANK2 287 broad.mit.edu 37 4 114288885 114288885 + Silent SNP G A A TCGA-EE-A2MQ-06A-11D-A197-08 TCGA-EE-A2MQ-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0853f3bd-b4a0-4c59-8370-60a5bd58ba85 860a8640-e651-4e9d-b4f0-d1dd589628ce g.chr4:114288885G>A uc003ibe.4 + 41 11296 c.11196G>A c.(11194-11196)gaG>gaA p.E3732E ANK2_uc003ibd.4_Silent_p.E1638E|ANK2_uc003ibf.4_Silent_p.E1647E|ANK2_uc011cgc.2_Silent_p.E823E|ANK2_uc003ibg.4_Silent_p.E631E|ANK2_uc003ibh.4_Silent_p.E321E NM_001148 NP_001139 Q01484 ANK2_HUMAN Homo sapiens ankyrin 2, neuronal (ANK2), transcript variant 1, mRNA. 3699 axon guidance|signal transduction apical plasma membrane|basolateral plasma membrane|cytoskeleton|cytosol|sarcomere protein binding NS(1)|biliary_tract(1)|breast(9)|central_nervous_system(10)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(54)|liver(2)|lung(112)|ovary(8)|pancreas(1)|prostate(7)|skin(11)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(10) 248 Ovarian(17;0.0448)|Hepatocellular(203;0.218) OV - Ovarian serous cystadenocarcinoma(123;4.92e-05) CCAAAACTGAGGGGGACAGCT 0.478000 23 39 0 0 0.00148497 0 0 ZNF331 55422 broad.mit.edu 37 19 54080023 54080023 + Missense_Mutation SNP G A A TCGA-EE-A2MQ-06A-11D-A197-08 TCGA-EE-A2MQ-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0853f3bd-b4a0-4c59-8370-60a5bd58ba85 860a8640-e651-4e9d-b4f0-d1dd589628ce g.chr19:54080023G>A uc002qbx.1 + 6 1643 c.209G>A c.(208-210)aGg>aAg p.R70K ZNF331_uc002qby.1_Missense_Mutation_p.R70K|ZNF331_uc002qbz.1_Missense_Mutation_p.R70K|ZNF331_uc010eqr.1_Missense_Mutation_p.R70K|ZNF331_uc002qca.1_Missense_Mutation_p.R70K|ZNF331_uc021uzg.1_Missense_Mutation_p.R70K|ZNF331_uc021uzh.1_Missense_Mutation_p.R70K|ZNF331_uc002qcb.1_Missense_Mutation_p.R70K|ZNF331_uc002qcc.1_Missense_Mutation_p.R70K|ZNF331_uc002qcd.1_Missense_Mutation_p.R70K NM_018555 NP_061025 Q9NQX6 ZN331_HUMAN Homo sapiens zinc finger protein 331 (ZNF331), transcript variant 1, mRNA. 70 KRAB. regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding NS(1)|large_intestine(1)|lung(1)|ovary(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(2) 10 GBM - Glioblastoma multiforme(134;0.00555) GCTTCCAAAAGGAATTCAGAT 0.388000 T ? follicular thyroid adenoma 18 22 0 0 0.00188189 0 0 SLC4A7 9497 broad.mit.edu 37 3 27433266 27433266 + Missense_Mutation SNP G A A TCGA-EE-A2MQ-06A-11D-A197-08 TCGA-EE-A2MQ-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0853f3bd-b4a0-4c59-8370-60a5bd58ba85 860a8640-e651-4e9d-b4f0-d1dd589628ce g.chr3:27433266G>A uc011aww.2 - 20 3372 c.3151C>T c.(3151-3153)Ctt>Ttt p.L1051F SLC4A7_uc011awx.2_Missense_Mutation_p.L1038F|SLC4A7_uc021wun.1_Missense_Mutation_p.L927F|SLC4A7_uc021wuo.1_Non-coding_Transcript|SLC4A7_uc011awy.2_Missense_Mutation_p.L1034F|SLC4A7_uc011awz.2_Non-coding_Transcript|SLC4A7_uc011axa.2_Missense_Mutation_p.L923F|SLC4A7_uc011axb.2_Missense_Mutation_p.L1038F|SLC4A7_uc021wul.1_Non-coding_Transcript|SLC4A7_uc011awu.2_Non-coding_Transcript|SLC4A7_uc011awv.2_Non-coding_Transcript|SLC4A7_uc021wum.1_Non-coding_Transcript|SLC4A7_uc003cdu.4_Missense_Mutation_p.L923F|SLC4A7_uc010hfl.3_Missense_Mutation_p.L592F|SLC4A7_uc003cdv.3_Missense_Mutation_p.L1042F|SLC4A7_uc003cdw.3_Missense_Mutation_p.L918F NM_003615 NP_003606 Q9Y6M7 S4A7_HUMAN Homo sapiens solute carrier family 4, sodium bicarbonate cotransporter, member 7 (SLC4A7), mRNA. 1042 apical plasma membrane|basolateral plasma membrane|integral to membrane|stereocilium inorganic anion exchanger activity|protein binding|sodium:bicarbonate symporter activity NS(2)|breast(3)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(12)|lung(9)|ovary(4)|skin(1) 38 CCCATATAAAGGAAAACACCA 0.284000 19 11 0 0 0.00185496 0 0 TAS2R38 5726 broad.mit.edu 37 7 141672661 141672661 + Missense_Mutation SNP T G G TCGA-EE-A2MQ-06A-11D-A197-08 TCGA-EE-A2MQ-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0853f3bd-b4a0-4c59-8370-60a5bd58ba85 860a8640-e651-4e9d-b4f0-d1dd589628ce g.chr7:141672661T>G uc003vwx.1 - 0 913 c.829A>C c.(829-831)Ata>Cta p.I277L NM_176817 NP_789787 P59533 T2R38_HUMAN Homo sapiens taste receptor, type 2, member 38 (TAS2R38), mRNA. 277 sensory perception of taste integral to membrane G-protein coupled receptor activity NS(2)|breast(1)|endometrium(3)|kidney(2)|large_intestine(3)|lung(7)|prostate(1)|skin(1)|stomach(1) 21 Melanoma(164;0.0171) ATCACCCCTATTTTGTCGCGC 0.498000 34 41 0 0 0.000589545 0 0 ZNF804A 91752 broad.mit.edu 37 2 185731167 185731167 + Silent SNP C T T TCGA-EE-A2MQ-06A-11D-A197-08 TCGA-EE-A2MQ-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0853f3bd-b4a0-4c59-8370-60a5bd58ba85 860a8640-e651-4e9d-b4f0-d1dd589628ce g.chr2:185731167C>T uc002uph.3 + 1 777 c.183C>T c.(181-183)ctC>ctT p.L61L NM_194250 NP_919226 Q7Z570 Z804A_HUMAN Homo sapiens zinc finger protein 804A (ZNF804A), mRNA. 61 intracellular zinc ion binding p.E60*(1) NS(5)|breast(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(22)|liver(2)|lung(79)|ovary(7)|pancreas(1)|prostate(2)|skin(12)|urinary_tract(1) 146 ACTGTGAACTCTGTGACAAGC 0.368000 31 15 0 0 0.000308642 0 0 FBXO7 25793 broad.mit.edu 37 22 32887122 32887122 + Silent SNP C G G TCGA-EE-A2MQ-06A-11D-A197-08 TCGA-EE-A2MQ-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0853f3bd-b4a0-4c59-8370-60a5bd58ba85 860a8640-e651-4e9d-b4f0-d1dd589628ce g.chr22:32887122C>G uc003amq.3 + 5 1204 c.921C>G c.(919-921)ctC>ctG p.L307L FBXO7_uc003amp.1_3'UTR|FBXO7_uc003amt.3_Silent_p.L228L|FBXO7_uc003amu.3_Silent_p.L193L|FBXO7_uc003amv.3_5'Flank NM_012179 NP_036311 Q9Y3I1 FBX7_HUMAN Homo sapiens F-box protein 7 (FBXO7), transcript variant 1, mRNA. 307 cell death|regulation of protein stability|ubiquitin-dependent protein catabolic process ubiquitin ligase complex protein binding|ubiquitin-protein ligase activity breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(3)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 19 TCTCTCGCCTCTTTAAAGACC 0.333000 99 50 0 0 0.000781405 0 0 TRBV19 28568 broad.mit.edu 37 7 142326601 142326601 + Missense_Mutation SNP C T T TCGA-EE-A2MQ-06A-11D-A197-08 TCGA-EE-A2MQ-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0853f3bd-b4a0-4c59-8370-60a5bd58ba85 860a8640-e651-4e9d-b4f0-d1dd589628ce g.chr7:142326601C>T uc003vzo.2 + 0 226 c.31C>T c.(31-33)Ctt>Ttt p.L11F TRBV5-1_uc011krr.1_Intron|TRBV19_uc022anp.1_5'Flank SubName: Full=V_segment translation product; Flags: Fragment; CTGTGTGGTCCTTTGTCTCCT 0.532000 55 20 0 0 0.00047179 0 0 ZNF385D 79750 broad.mit.edu 37 3 21606092 21606092 + Missense_Mutation SNP T G G TCGA-EE-A2MQ-06A-11D-A197-08 TCGA-EE-A2MQ-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0853f3bd-b4a0-4c59-8370-60a5bd58ba85 860a8640-e651-4e9d-b4f0-d1dd589628ce g.chr3:21606092T>G uc003cce.3 - 2 658 c.250A>C c.(250-252)Att>Ctt p.I84L ZNF385D_uc010hfb.1_Non-coding_Transcript NM_024697 NP_078973 Q9H6B1 Z385D_HUMAN Homo sapiens zinc finger protein 385D (ZNF385D), mRNA. 84 nucleus nucleic acid binding|zinc ion binding NS(2)|breast(2)|endometrium(3)|kidney(2)|large_intestine(13)|lung(18)|ovary(1)|prostate(1)|skin(4) 46 AACTGGCAAATGTTGCATGAT 0.338000 34 28 0 0 0.001512 0 0 TYRP1 7306 broad.mit.edu 37 9 12695549 12695549 + Missense_Mutation SNP A C C TCGA-EE-A2MQ-06A-11D-A197-08 TCGA-EE-A2MQ-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0853f3bd-b4a0-4c59-8370-60a5bd58ba85 860a8640-e651-4e9d-b4f0-d1dd589628ce g.chr9:12695549A>C uc003zkv.4 + 2 598 c.420A>C c.(418-420)gaA>gaC p.E140D NM_000550 NP_000541 P17643 TYRP1_HUMAN Homo sapiens tyrosinase-related protein 1 (TYRP1), mRNA. 140 melanin biosynthetic process clathrin-coated endocytic vesicle membrane|endosome membrane|integral to membrane|melanosome membrane copper ion binding|oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen, another compound as one donor, and incorporation of one atom of oxygen|protein heterodimerization activity|protein homodimerization activity NS(1)|endometrium(4)|kidney(2)|large_intestine(4)|lung(10)|stomach(1) 22 all_cancers(3;3.1e-05)|all_lung(3;1.7e-06)|Lung NSC(3;2.09e-06)|all_epithelial(3;0.000695)|all_hematologic(3;0.0033)|Acute lymphoblastic leukemia(23;0.0744) GBM - Glioblastoma multiforme(50;9.85e-06) GTAAAGAAGAAAAGAACCACT 0.448000 Oculocutaneous Albinism 34 25 0 0 0.000878237 0 0 SLC22A18 5002 broad.mit.edu 37 11 2943376 2943376 + Silent SNP G T T TCGA-EE-A2MQ-06A-11D-A197-08 TCGA-EE-A2MQ-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0853f3bd-b4a0-4c59-8370-60a5bd58ba85 860a8640-e651-4e9d-b4f0-d1dd589628ce g.chr11:2943376G>T uc001lwx.3 + 8 1127 c.909G>T c.(907-909)tcG>tcT p.S303S SLC22A18_uc001lwy.3_Silent_p.S303S NM_183233 NP_899056 Q96BI1 S22AI_HUMAN Homo sapiens solute carrier family 22, member 18 (SLC22A18), transcript variant 2, mRNA. 303 excretion|organic cation transport apical plasma membrane|cytoplasmic part|integral to membrane|nuclear envelope drug:hydrogen antiporter activity|symporter activity|ubiquitin protein ligase binding central_nervous_system(2)|large_intestine(1)|lung(3)|ovary(1)|prostate(1) 8 all_epithelial(84;0.000124)|Medulloblastoma(188;0.00106)|Breast(177;0.00328)|Ovarian(85;0.00556)|all_neural(188;0.00681)|all_lung(207;0.198) BRCA - Breast invasive adenocarcinoma(625;0.00256)|LUSC - Lung squamous cell carcinoma(625;0.192) GCCACTTCTCGGAGGAGGTGC 0.667000 241 8 0.000978159 0.00843168 0.000978159 1 0 GPR98 84059 broad.mit.edu 37 5 89986685 89986685 + Nonsense_Mutation SNP C T T TCGA-EE-A2MQ-06A-11D-A197-08 TCGA-EE-A2MQ-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0853f3bd-b4a0-4c59-8370-60a5bd58ba85 860a8640-e651-4e9d-b4f0-d1dd589628ce g.chr5:89986685C>T uc003kju.3 + 30 6874 c.6778C>T c.(6778-6780)Cga>Tga p.R2260* GPR98_uc003kjt.3_5'UTR NM_032119 NP_115495 Q8WXG9 GPR98_HUMAN Homo sapiens G protein-coupled receptor 98 (GPR98), transcript variant 1, mRNA. 2260 cell communication|cell-cell adhesion|maintenance of organ identity|neuropeptide signaling pathway|photoreceptor cell maintenance cell surface|cytoplasm|integral to membrane|plasma membrane G-protein coupled receptor activity|calcium ion binding NS(4)|breast(7)|central_nervous_system(6)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(3)|kidney(18)|large_intestine(46)|liver(2)|lung(80)|ovary(12)|pancreas(5)|prostate(1)|skin(50)|stomach(7)|upper_aerodigestive_tract(8)|urinary_tract(6) 269 all_cancers(142;1.05e-09)|all_epithelial(76;1.81e-12)|all_lung(232;5.41e-06)|Lung NSC(167;1.72e-05)|Ovarian(174;0.00948)|Colorectal(57;0.133)|Breast(839;0.192) OV - Ovarian serous cystadenocarcinoma(54;7.01e-30)|Epithelial(54;6.79e-25)|all cancers(79;1.88e-20) GCCAATAATTCGAAATTCTGG 0.438000 15 8 0 0 0.000274275 0 0 S100A9 6280 broad.mit.edu 37 1 153333206 153333206 + Silent SNP C T T TCGA-EE-A2MQ-06A-11D-A197-08 TCGA-EE-A2MQ-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0853f3bd-b4a0-4c59-8370-60a5bd58ba85 860a8640-e651-4e9d-b4f0-d1dd589628ce g.chr1:153333206C>T uc001fbq.3 + 2 280 c.237C>T c.(235-237)ttC>ttT p.F79F NM_002965 NP_002956 P06702 S10A9_HUMAN Homo sapiens S100 calcium binding protein A9 (S100A9), mRNA. 79 EF-hand 2. cell-cell signaling cytoplasm|cytoskeleton|nucleus|plasma membrane calcium ion binding|protein binding|signal transducer activity breast(1)|endometrium(1)|large_intestine(2) 4 all_lung(78;2.81e-33)|Lung NSC(65;9.54e-32)|Hepatocellular(266;0.0877)|all_hematologic(923;0.127) LUSC - Lung squamous cell carcinoma(543;0.171) TCGAGGAGTTCATCATGCTGA 0.572000 45 32 0 0 0.00178596 0 0 CALB2 794 broad.mit.edu 37 16 71411590 71411590 + Silent SNP C T T TCGA-EE-A2MQ-06A-11D-A197-08 TCGA-EE-A2MQ-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0853f3bd-b4a0-4c59-8370-60a5bd58ba85 860a8640-e651-4e9d-b4f0-d1dd589628ce g.chr16:71411590C>T uc002faa.4 + 3 362 c.282C>T c.(280-282)acC>acT p.T94T CALB2_uc010vme.2_Non-coding_Transcript|CALB2_uc002fac.4_Silent_p.T94T NM_001740 NP_001731 P22676 CALB2_HUMAN Homo sapiens calbindin 2 (CALB2), transcript variant CALB2, mRNA. 94 EF-hand 2. calcium ion binding NS(1)|breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(7)|prostate(1)|skin(2)|upper_aerodigestive_tract(1) 18 Ovarian(137;0.125) TCCTGCCAACCGAAGAGAACT 0.547000 41 23 0 0 0.000720815 0 0 UROC1 131669 broad.mit.edu 37 3 126218899 126218900 + Splice_Site DNP CC TT TT TCGA-EE-A2MQ-06A-11D-A197-08 TCGA-EE-A2MQ-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0853f3bd-b4a0-4c59-8370-60a5bd58ba85 860a8640-e651-4e9d-b4f0-d1dd589628ce g.chr3:126218899_126218900CC>TT uc010hsi.2 - 13 1477 c.1423_splice c.e13+1 p.G475_splice UROC1_uc003eiz.2_Splice_Site_p.G415_splice NM_001165974 NP_001159446 Q96N76 HUTU_HUMAN Homo sapiens urocanase domain containing 1 (UROC1), transcript variant 2, mRNA. 415 histidine catabolic process cytosol urocanate hydratase activity endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(27)|ovary(1)|skin(1) 39 GBM - Glioblastoma multiforme(114;0.17) cttcctcctACCTGCTCTCTGG 0.634000 25 10 0 0 6.4e-05 0 0 USH2A 7399 broad.mit.edu 37 1 216497021 216497021 + Missense_Mutation SNP G A A TCGA-EE-A2MQ-06A-11D-A197-08 TCGA-EE-A2MQ-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0853f3bd-b4a0-4c59-8370-60a5bd58ba85 860a8640-e651-4e9d-b4f0-d1dd589628ce g.chr1:216497021G>A uc001hku.1 - 7 1732 c.1345C>T c.(1345-1347)Cgt>Tgt p.R449C USH2A_uc001hkv.3_Missense_Mutation_p.R449C NM_206933 NP_996816 O75445 USH2A_HUMAN Homo sapiens Usher syndrome 2A (autosomal recessive, mild) (USH2A), transcript variant 2, mRNA. 449 Laminin N-terminal. maintenance of organ identity|photoreceptor cell maintenance|response to stimulus|sensory perception of sound basement membrane|cytoplasm|integral to membrane|stereocilium membrane collagen binding NS(7)|breast(20)|central_nervous_system(3)|cervix(2)|endometrium(32)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(71)|liver(2)|lung(282)|ovary(25)|pancreas(2)|prostate(12)|skin(22)|stomach(7)|upper_aerodigestive_tract(20)|urinary_tract(3) 527 OV - Ovarian serous cystadenocarcinoma(81;0.0547)|all cancers(67;0.0875) ACATTGCCACGGGAATATGGA 0.348000 HNSCC(13;0.011) 43 33 0 0 0.000692331 0 0 OR4B1 119765 broad.mit.edu 37 11 48238697 48238697 + Silent SNP G A A TCGA-EE-A2MQ-06A-11D-A197-08 TCGA-EE-A2MQ-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0853f3bd-b4a0-4c59-8370-60a5bd58ba85 860a8640-e651-4e9d-b4f0-d1dd589628ce g.chr11:48238697G>A uc010rhs.2 + 0 336 c.336G>A c.(334-336)ttG>ttA p.L112L NM_001005470 NP_001005470 Q8NGF8 OR4B1_HUMAN Homo sapiens olfactory receptor, family 4, subfamily B, member 1 (OR4B1), mRNA. 112 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity breast(1)|kidney(1)|large_intestine(3)|lung(14)|ovary(1)|pancreas(1)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1) 28 AGATCCTTTTGATTGTGGTGA 0.433000 96 46 0 0 0.000781405 0 0 SLC16A14 151473 broad.mit.edu 37 2 230911383 230911383 + Silent SNP G A A TCGA-EE-A2MQ-06A-11D-A197-08 TCGA-EE-A2MQ-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0853f3bd-b4a0-4c59-8370-60a5bd58ba85 860a8640-e651-4e9d-b4f0-d1dd589628ce g.chr2:230911383G>A uc002vqd.2 - 3 918 c.459C>T c.(457-459)ttC>ttT p.F153F FBXO36_uc010fxi.1_Intron|SLC16A14_uc002vqe.3_Silent_p.F153F|SLC16A14_uc002vqf.3_Silent_p.F153F NM_152527 NP_689740 Q7RTX9 MOT14_HUMAN Homo sapiens solute carrier family 16, member 14 (monocarboxylic acid transporter 14) (SLC16A14), mRNA. 153 integral to membrane|plasma membrane symporter activity NS(1)|cervix(1)|endometrium(7)|large_intestine(7)|lung(3)|ovary(5)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 28 Renal(207;0.025)|all_hematologic(139;0.122)|all_lung(227;0.149)|Acute lymphoblastic leukemia(138;0.164) Epithelial(121;7.31e-13)|all cancers(144;5.1e-10)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(119;0.00948) GTCTCTTCTGGAAATACCTGC 0.617000 23 13 0 0 0.00185496 0 0 ZMYM6 9204 broad.mit.edu 37 1 35480717 35480717 + Missense_Mutation SNP A G G TCGA-EE-A2MQ-06A-11D-A197-08 TCGA-EE-A2MQ-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0853f3bd-b4a0-4c59-8370-60a5bd58ba85 860a8640-e651-4e9d-b4f0-d1dd589628ce g.chr1:35480717A>G uc001byh.3 - 4 703 c.475T>C c.(475-477)Tcc>Ccc p.S159P ZMYM6_uc001byf.1_Missense_Mutation_p.S159P|ZMYM6_uc010oht.2_Missense_Mutation_p.S62P|ZMYM6_uc009vup.3_5'UTR|ZMYM6_uc009vuq.1_Missense_Mutation_p.S159P|ZMYM6_uc009vur.1_5'UTR NM_007167 NP_009098 O95789 ZMYM6_HUMAN Homo sapiens zinc finger, MYM-type 6 (ZMYM6), mRNA. 159 multicellular organismal development nucleus DNA binding|zinc ion binding breast(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(12)|lung(10)|ovary(4)|pancreas(1)|prostate(1)|skin(1) 44 Myeloproliferative disorder(586;0.0255)|all_neural(195;0.13) CTAGGATAGGAATTCTCAAAG 0.313000 28 27 0 0 0.00127121 0 0 DFNB59 494513 broad.mit.edu 37 2 179325898 179325898 + Missense_Mutation SNP G A A TCGA-EE-A2MQ-06A-11D-A197-08 TCGA-EE-A2MQ-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0853f3bd-b4a0-4c59-8370-60a5bd58ba85 860a8640-e651-4e9d-b4f0-d1dd589628ce g.chr2:179325898G>A uc002umi.4 + 6 1312 c.956G>A c.(955-957)aGg>aAg p.R319K MIR548N_uc021vsx.1_Intron|DFNB59_uc002umj.4_Missense_Mutation_p.R319K NM_001042702 NP_001036167 Q0ZLH3 PJVK_HUMAN Homo sapiens deafness, autosomal recessive 59 (DFNB59), mRNA. 319 sensory perception of sound breast(2)|endometrium(3)|kidney(2)|large_intestine(2)|lung(8)|upper_aerodigestive_tract(1) 18 OV - Ovarian serous cystadenocarcinoma(117;0.00406)|Epithelial(96;0.0159)|all cancers(119;0.0564) AACTTCAAAAGGGAGACAGTT 0.413000 71 56 0 0 0.000781405 0 0 DSP 1832 broad.mit.edu 37 6 7569492 7569493 + Missense_Mutation DNP CG AT AT TCGA-EE-A2MQ-06A-11D-A197-08 TCGA-EE-A2MQ-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0853f3bd-b4a0-4c59-8370-60a5bd58ba85 860a8640-e651-4e9d-b4f0-d1dd589628ce g.chr6:7569492_7569493CG>AT uc003mxp.1 + 11 1772_1773 c.1493_1494CG>AT c.(1492-1494)ccg>cAT p.P498H DSP_uc003mxq.1_Missense_Mutation_p.P498H|DSP_uc021yle.1_Missense_Mutation_p.P498H NM_004415 NP_004406 P15924 DESP_HUMAN Homo sapiens desmoplakin (DSP), transcript variant 1, mRNA. 498 Globular 1.|Interacts with plakophilin 1 and junction plakoglobin. cellular component disassembly involved in apoptosis|keratinocyte differentiation|peptide cross-linking cornified envelope|cytoplasm|desmosome protein binding, bridging|structural constituent of cytoskeleton biliary_tract(1)|breast(6)|central_nervous_system(7)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(16)|liver(2)|lung(27)|ovary(4)|prostate(1)|skin(8)|stomach(3)|upper_aerodigestive_tract(7)|urinary_tract(5) 101 Ovarian(93;0.0584) all_hematologic(90;0.236) OV - Ovarian serous cystadenocarcinoma(45;0.000508) GTGACGGGCCCGGGAGGCGTTG 0.559000 142 7 0 0 6.4e-05 0 0 CHRNB2 1141 broad.mit.edu 37 1 154543885 154543885 + Missense_Mutation SNP G A A TCGA-EE-A2MQ-06A-11D-A197-08 TCGA-EE-A2MQ-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0853f3bd-b4a0-4c59-8370-60a5bd58ba85 860a8640-e651-4e9d-b4f0-d1dd589628ce g.chr1:154543885G>A uc001ffg.3 + 4 850 c.586G>A c.(586-588)Gac>Aac p.D196N NM_000748 NP_000739 P17787 ACHB2_HUMAN Homo sapiens cholinergic receptor, nicotinic, beta 2 (neuronal) (CHRNB2), mRNA. 196 B cell activation|behavioral response to nicotine|calcium ion transport|central nervous system projection neuron axonogenesis|lateral geniculate nucleus development|locomotory behavior|membrane depolarization|memory|negative regulation of action potential|optic nerve morphogenesis|positive regulation of B cell proliferation|positive regulation of dopamine secretion|regulation of circadian sleep/wake cycle, REM sleep|regulation of dendrite morphogenesis|regulation of dopamine metabolic process|regulation of synaptogenesis|response to cocaine|response to ethanol|response to hypoxia|sensory perception of pain|sensory perception of sound|smooth muscle contraction|social behavior|synaptic transmission involved in micturition|synaptic transmission, cholinergic|vestibulocochlear nerve development|visual learning|visual perception cell junction|external side of plasma membrane|nicotinic acetylcholine-gated receptor-channel complex|postsynaptic membrane acetylcholine receptor activity|nicotinic acetylcholine-activated cation-selective channel activity cervix(1)|endometrium(2)|kidney(1)|large_intestine(8)|lung(12)|skin(1)|urinary_tract(3) 28 all_lung(78;2.22e-29)|Lung NSC(65;3.66e-27)|Hepatocellular(266;0.0877)|all_hematologic(923;0.088) LUSC - Lung squamous cell carcinoma(543;0.185) Nicotine(DB00184) CAGCCTGGACGACTTCACACC 0.582000 43 29 0 0 0.00106085 0 0 PITX2 5308 broad.mit.edu 37 4 111542432 111542432 + Missense_Mutation SNP G A A TCGA-EE-A2MQ-06A-11D-A197-08 TCGA-EE-A2MQ-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0853f3bd-b4a0-4c59-8370-60a5bd58ba85 860a8640-e651-4e9d-b4f0-d1dd589628ce g.chr4:111542432G>A uc003iaf.3 - 5 2101 c.278C>T c.(277-279)aCc>aTc p.T93I PITX2_uc003iac.3_Missense_Mutation_p.T100I|PITX2_uc003iad.3_Missense_Mutation_p.T93I|PITX2_uc021xqr.1_Missense_Mutation_p.T93I|PITX2_uc003iae.3_Missense_Mutation_p.T47I|PITX2_uc021xqs.1_Missense_Mutation_p.T47I|PITX2_uc003iag.1_Missense_Mutation_p.T100I NM_001204397 NP_001191326 Q99697 PITX2_HUMAN Homo sapiens paired-like homeodomain 2 (PITX2), transcript variant 4, mRNA. 93 determination of left/right symmetry|organ morphogenesis transcription factor complex sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription factor binding breast(1)|endometrium(3)|large_intestine(1)|lung(5) 10 Hepatocellular(203;0.217) OV - Ovarian serous cystadenocarcinoma(123;0.00222) CTGCTGGCTGGTAAAGTGAGT 0.567000 8 27 0 0 0.000339439 0 0 ANKRD32 84250 broad.mit.edu 37 5 94030868 94030868 + Missense_Mutation SNP C T T TCGA-EE-A2MQ-06A-11D-A197-08 TCGA-EE-A2MQ-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0853f3bd-b4a0-4c59-8370-60a5bd58ba85 860a8640-e651-4e9d-b4f0-d1dd589628ce g.chr5:94030868C>T uc003kkr.4 + 20 3108 c.3028C>T c.(3028-3030)Ctt>Ttt p.L1010F ANKRD32_uc003kks.3_Missense_Mutation_p.L374F NM_032290 NP_115666 Q9BQI6 ANR32_HUMAN Homo sapiens ankyrin repeat domain 32 (ANKRD32), mRNA. 1010 NS(1)|breast(2)|endometrium(2)|large_intestine(1)|lung(3)|ovary(2)|prostate(1)|skin(1) 13 all_cancers(142;1.51e-09)|all_epithelial(76;4.68e-12)|all_lung(232;5.94e-05)|Ovarian(174;0.000953)|Lung NSC(167;0.00105)|Colorectal(57;0.122)|Lung SC(612;0.152) all cancers(79;3.88e-18) GTTACTGGATCTTTATGCTGG 0.398000 46 30 0 0 0.000339439 0 0 REEP6 92840 broad.mit.edu 37 19 1495357 1495357 + Silent SNP C T T TCGA-EE-A2MQ-06A-11D-A197-08 TCGA-EE-A2MQ-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0853f3bd-b4a0-4c59-8370-60a5bd58ba85 860a8640-e651-4e9d-b4f0-d1dd589628ce g.chr19:1495357C>T uc002ltc.3 + 1 284 c.180C>T c.(178-180)ctC>ctT p.L60L REEP6_uc010xgp.2_Silent_p.L60L NM_138393 NP_612402 Q96HR9 REEP6_HUMAN Homo sapiens receptor accessory protein 6 (REEP6), mRNA. 60 integral to membrane lung(1)|ovary(1) 2 Acute lymphoblastic leukemia(61;5.61e-13)|all_hematologic(61;2.65e-08) UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18) TGTGCAATCTCATCGGATTTG 0.657000 29 17 0 0 0.000958276 0 0 PRAMEF11 440560 broad.mit.edu 37 1 12887258 12887258 + Missense_Mutation SNP G A A TCGA-EE-A2MQ-06A-11D-A197-08 TCGA-EE-A2MQ-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0853f3bd-b4a0-4c59-8370-60a5bd58ba85 860a8640-e651-4e9d-b4f0-d1dd589628ce g.chr1:12887258G>A uc001auk.2 - 2 795 c.599C>T c.(598-600)tCc>tTc p.S200F NM_001146344 NP_001139816 O60813 PRA11_HUMAN Homo sapiens PRAME family member 11 (PRAMEF11), mRNA. 200 NS(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|lung(7)|pancreas(2)|skin(4)|urinary_tract(1) 27 ATCCATGTGGGAGAGAACGAG 0.512000 290 101 0 0 0.000781405 0 0 CLCNKA 1187 broad.mit.edu 37 1 16354561 16354561 + Silent SNP C T T TCGA-EE-A2MQ-06A-11D-A197-08 TCGA-EE-A2MQ-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0853f3bd-b4a0-4c59-8370-60a5bd58ba85 860a8640-e651-4e9d-b4f0-d1dd589628ce g.chr1:16354561C>T uc001axu.3 + 9 995 c.915C>T c.(913-915)acC>acT p.T305T CLCNKA_uc001axt.3_Non-coding_Transcript|CLCNKA_uc010obw.2_Silent_p.T262T|CLCNKA_uc001axv.3_Silent_p.T305T|CLCNKA_uc010obx.1_5'Flank|CLCNKA_uc010oby.1_5'Flank|CLCNKA_uc021ogl.1_5'Flank NM_004070 NP_004061 P51800 CLCKA_HUMAN Homo sapiens chloride channel Ka (CLCNKA), transcript variant 1, mRNA. 305 excretion chloride channel complex|integral to plasma membrane voltage-gated chloride channel activity breast(1)|kidney(1)|large_intestine(2)|lung(12)|ovary(2)|skin(1) 19 Colorectal(325;3.46e-05)|Breast(348;0.000278)|Lung NSC(340;0.000419)|Renal(390;0.000518)|all_lung(284;0.000567)|Ovarian(437;0.0221)|Myeloproliferative disorder(586;0.0255) UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|Colorectal(212;8.04e-08)|COAD - Colon adenocarcinoma(227;5.46e-06)|BRCA - Breast invasive adenocarcinoma(304;9.02e-05)|Kidney(64;0.00016)|KIRC - Kidney renal clear cell carcinoma(64;0.00258)|STAD - Stomach adenocarcinoma(313;0.00655)|READ - Rectum adenocarcinoma(331;0.0649) Niflumic Acid(DB04552) GTCAGCGAACCTTCCTCAGCT 0.592000 43 57 0 0 0.000781405 0 0 CIC 23152 broad.mit.edu 37 19 42798167 42798167 + Missense_Mutation SNP C T T TCGA-EE-A2MQ-06A-11D-A197-08 TCGA-EE-A2MQ-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0853f3bd-b4a0-4c59-8370-60a5bd58ba85 860a8640-e651-4e9d-b4f0-d1dd589628ce g.chr19:42798167C>T uc002otf.1 + 16 4161 c.4121C>T c.(4120-4122)cCc>cTc p.P1374L NM_015125 NP_055940 Q96RK0 CIC_HUMAN Homo sapiens capicua homolog (Drosophila) (CIC), mRNA. 1374 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|protein binding autonomic_ganglia(1)|breast(5)|central_nervous_system(32)|endometrium(10)|kidney(2)|large_intestine(7)|lung(9)|ovary(7)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2) 82 Prostate(69;0.00682) CTGCCCTCCCCCACCCTGCAG 0.637000 """Mis, F, S""" oligodendroglioma 84 25 0 0 0.00047179 0 0 RGPD4 285190 broad.mit.edu 37 2 108488586 108488586 + Missense_Mutation SNP G A A TCGA-EE-A2MQ-06A-11D-A197-08 TCGA-EE-A2MQ-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0853f3bd-b4a0-4c59-8370-60a5bd58ba85 860a8640-e651-4e9d-b4f0-d1dd589628ce g.chr2:108488586G>A uc010ywk.2 + 19 4208 c.4126G>A c.(4126-4128)Gaa>Aaa p.E1376K RGPD4_uc002tdu.3_Missense_Mutation_p.E563K|RGPD4_uc010ywl.2_Intron NM_182588 NP_872394 Q7Z3J3 RGPD4_HUMAN Homo sapiens RANBP2-like and GRIP domain containing 4 (RGPD4), mRNA. 1376 RanBD1 2. intracellular transport binding breast(1)|endometrium(7)|kidney(4)|lung(23)|pancreas(1)|prostate(1)|skin(3)|urinary_tract(3) 43 TCAATGGAAAGAAAGGGGCAT 0.348000 150 75 0 0 0.000781405 0 0 TRRAP 8295 broad.mit.edu 37 7 98588089 98588089 + Silent SNP T C C TCGA-EE-A2MQ-06A-11D-A197-08 TCGA-EE-A2MQ-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0853f3bd-b4a0-4c59-8370-60a5bd58ba85 860a8640-e651-4e9d-b4f0-d1dd589628ce g.chr7:98588089T>C uc003upp.3 + 62 9824 c.9615T>C c.(9613-9615)ctT>ctC p.L3205L TRRAP_uc011kis.2_Silent_p.L3176L|TRRAP_uc003upr.3_Silent_p.L2893L NM_001244580 NP_001231509 Q9Y4A5 TRRAP_HUMAN Homo sapiens transformation/transcription domain-associated protein (TRRAP), transcript variant 1, mRNA. 3205 FAT. histone H2A acetylation|histone H4 acetylation|histone deubiquitination|regulation of transcription, DNA-dependent|transcription, DNA-dependent NuA4 histone acetyltransferase complex|PCAF complex|STAGA complex|transcription factor TFTC complex phosphotransferase activity, alcohol group as acceptor|protein binding|transcription cofactor activity p.W3205C(1) NS(3)|breast(1)|central_nervous_system(10)|endometrium(16)|kidney(7)|large_intestine(36)|liver(1)|lung(54)|ovary(10)|pancreas(1)|prostate(8)|skin(16)|stomach(5)|upper_aerodigestive_tract(6)|urinary_tract(2) 176 all_cancers(62;6.96e-09)|all_epithelial(64;4.86e-09)|Lung NSC(181;0.01)|all_lung(186;0.016)|Esophageal squamous(72;0.0274) STAD - Stomach adenocarcinoma(171;0.215) TGCTGTGGCTTTTGAGTTTTG 0.468000 94 41 0 0 0.000680045 0 0 CAPN6 827 broad.mit.edu 37 X 110496372 110496372 + Missense_Mutation SNP G A A TCGA-EE-A2MQ-06A-11D-A197-08 TCGA-EE-A2MQ-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0853f3bd-b4a0-4c59-8370-60a5bd58ba85 860a8640-e651-4e9d-b4f0-d1dd589628ce g.chrX:110496372G>A uc004epc.2 - 3 561 c.370C>T c.(370-372)Cgt>Tgt p.R124C CAPN6_uc011msu.2_5'UTR NM_014289 NP_055104 Q9Y6Q1 CAN6_HUMAN Homo sapiens calpain 6 (CAPN6), mRNA. 124 Calpain catalytic. microtubule bundle formation|proteolysis|regulation of cytoskeleton organization perinuclear region of cytoplasm|spindle microtubule calcium-dependent cysteine-type endopeptidase activity|microtubule binding cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(25)|ovary(3)|skin(3)|upper_aerodigestive_tract(1) 47 TGCCAGAAACGAAAGTGAAAT 0.403000 48 34 0 0 0.000953801 0 0 TERT 7015 broad.mit.edu 37 5 1272321 1272321 + Silent SNP C T T TCGA-EE-A2MQ-06A-11D-A197-08 TCGA-EE-A2MQ-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0853f3bd-b4a0-4c59-8370-60a5bd58ba85 860a8640-e651-4e9d-b4f0-d1dd589628ce g.chr5:1272321C>T uc003jcb.1 - 6 2419 c.2361G>A c.(2359-2361)agG>agA p.R787R TERT_uc003jbz.1_Intron|TERT_uc003jcc.1_Silent_p.R787R|TERT_uc003jca.1_Silent_p.R775R|TERT_uc003jcd.1_Intron|TERT_uc003jce.1_Intron|TERT_uc021xvz.1_Intron|TERT_uc021xwa.1_Intron|TERT_uc021xwb.1_Intron NM_198253 NP_937983 O14746 TERT_HUMAN Homo sapiens telomerase reverse transcriptase (TERT), transcript variant 1, mRNA. 787 Reverse transcriptase. DNA strand elongation|anti-apoptosis|replicative senescence|telomere formation via telomerase|telomere maintenance via telomerase PML body|cytoplasm|nucleolus|telomerase holoenzyme complex protein homodimerization activity|telomeric DNA binding|telomeric RNA binding|telomeric template RNA reverse transcriptase activity NS(1)|breast(1)|central_nervous_system(3)|endometrium(2)|kidney(4)|large_intestine(3)|lung(22)|ovary(2)|skin(2)|upper_aerodigestive_tract(1) 41 all_cancers(3;3.17e-16)|Lung NSC(6;8.55e-15)|all_lung(6;7.2e-14)|all_epithelial(6;1.87e-10) Epithelial(17;0.00105)|all cancers(22;0.00178)|OV - Ovarian serous cystadenocarcinoma(19;0.00239)|Lung(60;0.185) CGACGGCATCCCTCAGCGGGC 0.647000 TERT Mutation-Associated Haematological Disorders;Pulmonary Fibrosis, Idiopathic;Congenital Dyskeratosis 4 3 0 0 6.4e-05 0 0 HSD11B1 3290 broad.mit.edu 37 1 209879201 209879201 + Missense_Mutation SNP G A A TCGA-EE-A2MQ-06A-11D-A197-08 TCGA-EE-A2MQ-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0853f3bd-b4a0-4c59-8370-60a5bd58ba85 860a8640-e651-4e9d-b4f0-d1dd589628ce g.chr1:209879201G>A uc001hhj.3 + 2 266 c.134G>A c.(133-135)gGg>gAg p.G45E HSD11B1_uc021pin.1_Missense_Mutation_p.G45E|HSD11B1_uc001hhk.3_Missense_Mutation_p.G45E NM_181755 NP_861420 P28845 DHI1_HUMAN Homo sapiens hydroxysteroid (11-beta) dehydrogenase 1 (HSD11B1), transcript variant 2, mRNA. 45 glucocorticoid biosynthetic process endoplasmic reticulum membrane|integral to membrane 11-beta-hydroxysteroid dehydrogenase|11-beta-hydroxysteroid dehydrogenase (NADP+) activity|binding breast(1)|endometrium(3)|kidney(2)|large_intestine(1)|lung(9) 16 OV - Ovarian serous cystadenocarcinoma(81;1.04e-55)|Epithelial(68;1.57e-52)|all cancers(67;1.83e-46)|Colorectal(1306;0.115) NADH(DB00157) GCCAGCAAAGGGATCGGAAGA 0.507000 52 22 0 0 0.00188189 0 0 ZDHHC6 64429 broad.mit.edu 37 10 114190594 114190594 + Nonsense_Mutation SNP G A A TCGA-EE-A2MQ-06A-11D-A197-08 TCGA-EE-A2MQ-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0853f3bd-b4a0-4c59-8370-60a5bd58ba85 860a8640-e651-4e9d-b4f0-d1dd589628ce g.chr10:114190594G>A uc001kzv.3 - 10 1634 c.1210C>T c.(1210-1212)Caa>Taa p.Q404* ZDHHC6_uc001kzw.3_Nonsense_Mutation_p.Q400* NM_022494 NP_071939 Q9H6R6 ZDHC6_HUMAN Homo sapiens zinc finger, DHHC-type containing 6 (ZDHHC6), mRNA. 404 integral to membrane acyltransferase activity|zinc ion binding endometrium(4)|kidney(1)|large_intestine(2)|lung(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 14 Colorectal(252;0.198) Epithelial(162;0.0291)|all cancers(201;0.117) TCTGGGGCTTGATCTGTTTCA 0.368000 62 39 0 0 0.000781405 0 0 NBPF7 343505 broad.mit.edu 37 1 120381807 120381808 + Splice_Site DNP CC AA AA TCGA-EE-A2MQ-06A-11D-A197-08 TCGA-EE-A2MQ-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0853f3bd-b4a0-4c59-8370-60a5bd58ba85 860a8640-e651-4e9d-b4f0-d1dd589628ce g.chr1:120381807_120381808CC>AA uc010oxk.2 - 5 1459 c.838_splice c.e5+1 p.E280_splice NM_001047980 NP_001041445 P0C2Y1 NBPF7_HUMAN Homo sapiens neuroblastoma breakpoint family, member 7 (NBPF7), mRNA. 280 NBPF 2. cytoplasm breast(1)|endometrium(1)|kidney(2)|large_intestine(2)|lung(15)|ovary(1)|skin(2) 24 all_cancers(5;7.07e-10)|all_epithelial(5;1.62e-10)|all_neural(166;0.153)|Breast(55;0.234) all_lung(203;3.66e-05)|Lung NSC(69;0.000192)|all_epithelial(167;0.0347) Lung(183;0.0103)|LUSC - Lung squamous cell carcinoma(189;0.0544) TAGAGGTTACCCAGAAGAATGT 0.386000 427 11 0 0 6.4e-05 0 0 EBF3 253738 broad.mit.edu 37 10 131639280 131639281 + Missense_Mutation DNP AT TG TG TCGA-EE-A2MQ-06A-11D-A197-08 TCGA-EE-A2MQ-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0853f3bd-b4a0-4c59-8370-60a5bd58ba85 860a8640-e651-4e9d-b4f0-d1dd589628ce g.chr10:131639280_131639281AT>TG uc021qav.1 - 13 1420_1421 c.1319_1320AT>CA c.(1318-1320)aat>aCA p.N440T EBF3_uc001lki.2_Missense_Mutation_p.N454T NM_001005463 NP_001005463 Q9H4W6 COE3_HUMAN Homo sapiens early B-cell factor 3 (EBF3), mRNA. 463 multicellular organismal development|regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|metal ion binding|protein binding central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(8)|lung(23)|ovary(1)|pancreas(1)|prostate(1)|skin(1) 44 all_cancers(35;1.8e-08)|all_epithelial(44;8.26e-08)|Lung NSC(174;0.0091)|all_lung(145;0.0123)|Breast(234;0.039)|all_neural(114;0.0722)|Colorectal(57;0.0764) OV - Ovarian serous cystadenocarcinoma(35;0.00513) CGCTGCTTGTATTGCGACTGTA 0.525000 51 29 0 0 6.4e-05 0 0 ME1 4199 broad.mit.edu 37 6 84056034 84056034 + Missense_Mutation SNP C T T TCGA-EE-A2MQ-06A-11D-A197-08 TCGA-EE-A2MQ-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0853f3bd-b4a0-4c59-8370-60a5bd58ba85 860a8640-e651-4e9d-b4f0-d1dd589628ce g.chr6:84056034C>T uc003pjy.3 - 4 723 c.458G>A c.(457-459)gGa>gAa p.G153E ME1_uc011dzb.2_Missense_Mutation_p.G78E|ME1_uc011dzc.2_5'UTR NM_002395 NP_002386 P48163 MAOX_HUMAN Homo sapiens malic enzyme 1, NADP(+)-dependent, cytosolic (ME1), mRNA. 153 NADP biosynthetic process|carbohydrate metabolic process|cellular lipid metabolic process|malate metabolic process|response to carbohydrate stimulus|response to hormone stimulus cytosol ADP binding|NAD binding|NADP binding|electron carrier activity|malate dehydrogenase (oxaloacetate-decarboxylating) (NADP+) activity|manganese ion binding p.D152V(1) NS(2)|breast(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(7)|ovary(2)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 36 all_cancers(76;1.28e-06)|Acute lymphoblastic leukemia(125;5.03e-07)|all_hematologic(105;0.000238)|all_epithelial(107;0.00218) BRCA - Breast invasive adenocarcinoma(397;0.0641) NADH(DB00157) AATACGCTCTCCATCAGTCAC 0.423000 22 8 0 0 0.000274275 0 0 CCNB3 85417 broad.mit.edu 37 X 50054483 50054483 + Missense_Mutation SNP G A A TCGA-EE-A2MQ-06A-11D-A197-08 TCGA-EE-A2MQ-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0853f3bd-b4a0-4c59-8370-60a5bd58ba85 860a8640-e651-4e9d-b4f0-d1dd589628ce g.chrX:50054483G>A uc004dox.4 + 5 3612 c.3314G>A c.(3313-3315)gGa>gAa p.G1105E CCNB3_uc004doy.3_Missense_Mutation_p.G1105E|CCNB3_uc004doz.3_Intron|CCNB3_uc010njq.3_Intron NM_033031 NP_149020 Q8WWL7 CCNB3_HUMAN Homo sapiens cyclin B3 (CCNB3), transcript variant 3, mRNA. 1105 cell division|meiosis|regulation of G2/M transition of mitotic cell cycle|regulation of cyclin-dependent protein kinase activity nucleus protein kinase binding breast(3)|cervix(1)|endometrium(5)|kidney(4)|large_intestine(9)|lung(41)|ovary(4)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1) 75 Ovarian(276;0.236) CAGGCCAAGGGAACACCAAAG 0.443000 7 7 0 0 0.000157383 0 0 TTN 7273 broad.mit.edu 37 2 179642182 179642182 + Missense_Mutation SNP C T T TCGA-EE-A2MQ-06A-11D-A197-08 TCGA-EE-A2MQ-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0853f3bd-b4a0-4c59-8370-60a5bd58ba85 860a8640-e651-4e9d-b4f0-d1dd589628ce g.chr2:179642182C>T uc021vsy.1 - 25 4835 c.4610G>A c.(4609-4611)gGc>gAc p.G1537D TTN_uc021vsz.1_Missense_Mutation_p.G1491D|TTN_uc021vta.1_Missense_Mutation_p.G1491D|TTN_uc021vtb.1_Missense_Mutation_p.G1491D|TTN_uc002unb.2_Missense_Mutation_p.G1537D|AK123298_uc002unc.1_Non-coding_Transcript NM_133378 NP_596869 Q8WZ42 TITIN_HUMAN Homo sapiens titin (TTN), transcript variant N2-A, mRNA. 1537 Ig-like 6. 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) TGAAGATCTGCCTGCCCTGTT 0.358000 30 15 0 0 0.000422831 0 0 ACSM1 116285 broad.mit.edu 37 16 20638546 20638546 + Silent SNP G A A TCGA-EE-A2MQ-06A-11D-A197-08 TCGA-EE-A2MQ-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0853f3bd-b4a0-4c59-8370-60a5bd58ba85 860a8640-e651-4e9d-b4f0-d1dd589628ce g.chr16:20638546G>A uc002dhm.1 - 9 1460 c.1392C>T c.(1390-1392)ttC>ttT p.F464F ACSM1_uc002dhn.1_Intron|ACSM1_uc010bwg.1_Silent_p.F464F NM_052956 NP_443188 Q08AH1 ACSM1_HUMAN Homo sapiens acyl-CoA synthetase medium-chain family member 1 (ACSM1), mRNA. 464 benzoate metabolic process|butyrate metabolic process|energy derivation by oxidation of organic compounds|fatty acid oxidation|xenobiotic metabolic process mitochondrial matrix ATP binding|GTP binding|acyl-CoA ligase activity|butyrate-CoA ligase activity|metal ion binding central_nervous_system(1)|endometrium(5)|kidney(2)|large_intestine(6)|lung(23)|skin(3)|upper_aerodigestive_tract(2) 42 TCCTCCCCAGGAAACAAATGT 0.507000 136 99 0 0 0.000781405 0 0 TTN 7273 broad.mit.edu 37 2 179469522 179469522 + Silent SNP G A A TCGA-EE-A2MQ-06A-11D-A197-08 TCGA-EE-A2MQ-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0853f3bd-b4a0-4c59-8370-60a5bd58ba85 860a8640-e651-4e9d-b4f0-d1dd589628ce g.chr2:179469522G>A uc021vsy.1 - 229 46815 c.46590C>T c.(46588-46590)acC>acT p.T15530T MIR548N_uc021vsx.1_Intron|LOC100506866_uc002umo.3_Non-coding_Transcript|LOC100506866_uc002ump.2_Intron|TTN_uc021vsz.1_Silent_p.T9225T|TTN_uc021vta.1_Silent_p.T9158T|TTN_uc021vtb.1_Silent_p.T9033T NM_133378 NP_596869 Q8WZ42 TITIN_HUMAN Homo sapiens titin (TTN), transcript variant N2-A, mRNA. 16457 Fibronectin type-III 13. 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) TAACATAATGGGTGATTTCAC 0.438000 47 34 0 0 0.000409698 0 0 OIT3 170392 broad.mit.edu 37 10 74658714 74658714 + Silent SNP G A A TCGA-EE-A2MQ-06A-11D-A197-08 TCGA-EE-A2MQ-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0853f3bd-b4a0-4c59-8370-60a5bd58ba85 860a8640-e651-4e9d-b4f0-d1dd589628ce g.chr10:74658714G>A uc001jte.1 + 1 572 c.354G>A c.(352-354)acG>acA p.T118T OIT3_uc009xqs.1_Non-coding_Transcript NM_152635 NP_689848 Q8WWZ8 OIT3_HUMAN Homo sapiens oncoprotein induced transcript 3 (OIT3), mRNA. 118 nuclear envelope calcium ion binding autonomic_ganglia(1)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(9)|liver(2)|lung(14)|ovary(2)|prostate(1)|skin(2) 35 Prostate(51;0.0198) GGAACACCACGGTGGAAGTCA 0.577000 27 15 0 0 0.000422831 0 0 DCAF13 25879 broad.mit.edu 37 8 104427664 104427664 + Missense_Mutation SNP G A A TCGA-EE-A2MQ-06A-11D-A197-08 TCGA-EE-A2MQ-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0853f3bd-b4a0-4c59-8370-60a5bd58ba85 860a8640-e651-4e9d-b4f0-d1dd589628ce g.chr8:104427664G>A uc003yln.3 + 0 723 c.446G>A c.(445-447)aGa>aAa p.R149K SLC25A32_uc003yll.3_5'Flank|SLC25A32_uc011lhr.2_5'Flank|DCAF13_uc003ylm.1_5'UTR NM_015420 NP_056235 Q9NV06 DCA13_HUMAN Homo sapiens DDB1 and CUL4 associated factor 13 (DCAF13), mRNA. 0 rRNA processing CUL4 RING ubiquitin ligase complex|nucleolus|ribonucleoprotein complex p.R149K(2) NS(1)|breast(1)|kidney(2)|large_intestine(8)|lung(8)|prostate(2)|skin(2)|upper_aerodigestive_tract(1) 25 CCGGCCGGAAGAGCAACCGAG 0.562000 23 24 0 0 0.000586117 0 0 C19orf18 147685 broad.mit.edu 37 19 58472777 58472777 + Missense_Mutation SNP C T T TCGA-EE-A2MQ-06A-11D-A197-08 TCGA-EE-A2MQ-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0853f3bd-b4a0-4c59-8370-60a5bd58ba85 860a8640-e651-4e9d-b4f0-d1dd589628ce g.chr19:58472777C>T uc002qqv.3 - 4 616 c.514G>A c.(514-516)Gaa>Aaa p.E172K NM_152474 NP_689687 Q8NEA5 CS018_HUMAN Homo sapiens chromosome 19 open reading frame 18 (C19orf18), mRNA. 172 integral to membrane large_intestine(2)|lung(3)|ovary(1)|pancreas(1)|prostate(1) 8 Colorectal(82;0.000256)|all_neural(62;0.0577)|Breast(46;0.147)|Ovarian(87;0.156) UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.017) ATGAACTTTTCCAGCTCATTT 0.488000 12 27 0 0 0.000339439 0 0 LPA 4018 broad.mit.edu 37 6 161016452 161016452 + Missense_Mutation SNP C T T TCGA-EE-A2MQ-06A-11D-A197-08 TCGA-EE-A2MQ-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0853f3bd-b4a0-4c59-8370-60a5bd58ba85 860a8640-e651-4e9d-b4f0-d1dd589628ce g.chr6:161016452C>T uc003qtl.3 - 21 3523 c.3403G>A c.(3403-3405)Gaa>Aaa p.E1135K NM_005577 NP_005568 P08519 APOA_HUMAN Homo sapiens lipoprotein, Lp(a) (LPA), mRNA. 3643 Kringle 10. blood circulation|lipid metabolic process|lipid transport|lipoprotein metabolic process|proteolysis|receptor-mediated endocytosis plasma lipoprotein particle apolipoprotein binding|endopeptidase inhibitor activity|fibronectin binding|heparin binding|serine-type endopeptidase activity NS(1)|breast(3)|central_nervous_system(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(16)|lung(54)|ovary(4)|pancreas(1)|prostate(2)|skin(10)|stomach(1)|urinary_tract(1) 107 Breast(66;0.000496)|Ovarian(120;0.0303)|Prostate(117;0.0965) OV - Ovarian serous cystadenocarcinoma(65;2.5e-17)|BRCA - Breast invasive adenocarcinoma(81;6.48e-06) Aminocaproic Acid(DB00513) ACACTTGATTCTGTCACCAGG 0.522000 83 63 0 0 0.000781405 0 0 CR1 1378 broad.mit.edu 37 1 207787808 207787809 + Nonsense_Mutation DNP GG AA AA TCGA-EE-A2MQ-06A-11D-A197-08 TCGA-EE-A2MQ-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0853f3bd-b4a0-4c59-8370-60a5bd58ba85 860a8640-e651-4e9d-b4f0-d1dd589628ce g.chr1:207787808_207787809GG>AA uc001hfy.3 + 31 5425_5426 c.5285_5286GG>AA c.(5284-5286)tgg>tAA p.W1762* CR1_uc001hfx.3_Nonsense_Mutation_p.W2212*|CR1_uc021pij.1_Nonsense_Mutation_p.W1762* NM_000573 NP_000564 P17927 CR1_HUMAN Homo sapiens complement component (3b/4b) receptor 1 (Knops blood group) (CR1), transcript variant F, mRNA. 1762 Sushi 27. complement activation, classical pathway|innate immune response integral to plasma membrane complement receptor activity NS(1)|breast(1)|central_nervous_system(1)|endometrium(9)|kidney(11)|large_intestine(13)|lung(33)|ovary(3)|prostate(6)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 82 AAAGCCCTTTGGAATAGCAGTG 0.416000 40 12 0 0 6.4e-05 0 0 MORC4 79710 broad.mit.edu 37 X 106243183 106243183 + Missense_Mutation SNP C A A TCGA-EE-A2MQ-06A-11D-A197-08 TCGA-EE-A2MQ-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0853f3bd-b4a0-4c59-8370-60a5bd58ba85 860a8640-e651-4e9d-b4f0-d1dd589628ce g.chrX:106243183C>A uc004emu.4 - 0 292 c.17G>T c.(16-18)gGg>gTg p.G6V MORC4_uc004emv.4_Missense_Mutation_p.G6V|MORC4_uc004emw.4_5'UTR NM_024657 NP_078933 Q8TE76 MORC4_HUMAN Homo sapiens MORC family CW-type zinc finger 4 (MORC4), transcript variant 1, mRNA. 6 ATP binding|zinc ion binding p.E5*(1) endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(4)|lung(7)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2) 28 ggcgggggccccTCGGTACAG 0.771000 25 15 1.37285e-15 1.22636e-14 0.000422831 1 0 RAG1 5896 broad.mit.edu 37 11 36596800 36596800 + Missense_Mutation SNP C T T TCGA-EE-A2MQ-06A-11D-A197-08 TCGA-EE-A2MQ-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0853f3bd-b4a0-4c59-8370-60a5bd58ba85 860a8640-e651-4e9d-b4f0-d1dd589628ce g.chr11:36596800C>T uc021qgb.1 + 0 1946 c.1946C>T c.(1945-1947)cCt>cTt p.P649L RAG1_uc001mwt.3_Non-coding_Transcript|RAG1_uc001mwu.4_Missense_Mutation_p.P649L NM_000448 NP_000439 P15918 RAG1_HUMAN Homo sapiens recombination activating gene 1 (RAG1), mRNA. 649 T cell differentiation in thymus|V(D)J recombination|histone monoubiquitination|immune response|pre-B cell allelic exclusion|protein autoubiquitination nucleus endonuclease activity|histone binding|protein homodimerization activity|sequence-specific DNA binding|ubiquitin-protein ligase activity|zinc ion binding NS(1)|breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(14)|liver(1)|lung(33)|ovary(1)|pancreas(1)|prostate(1)|skin(5)|urinary_tract(1) 65 all_lung(20;0.226) all_hematologic(20;0.107) GAAGCCAAACCTAACTCTGAA 0.458000 Familial Hemophagocytic Lymphohistiocytosis 31 18 0 0 0.000958276 0 0 ACSM4 341392 broad.mit.edu 37 12 7477098 7477098 + Silent SNP C T T TCGA-EE-A2MQ-06A-11D-A197-08 TCGA-EE-A2MQ-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0853f3bd-b4a0-4c59-8370-60a5bd58ba85 860a8640-e651-4e9d-b4f0-d1dd589628ce g.chr12:7477098C>T uc001qsx.1 + 10 1440 c.1440C>T c.(1438-1440)taC>taT p.Y480Y NM_001080454 NP_001073923 P0C7M7 ACSM4_HUMAN Homo sapiens acyl-CoA synthetase medium-chain family member 4 (ACSM4), mRNA. 480 fatty acid metabolic process mitochondrial matrix ATP binding|butyrate-CoA ligase activity|metal ion binding endometrium(6)|kidney(1)|lung(14) 21 TCTTCAGGTACCGTATTGGGC 0.463000 33 19 0 0 0.00152264 0 0 CDHR1 92211 broad.mit.edu 37 10 85971455 85971455 + Missense_Mutation SNP G A A TCGA-EE-A2MQ-06A-11D-A197-08 TCGA-EE-A2MQ-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0853f3bd-b4a0-4c59-8370-60a5bd58ba85 860a8640-e651-4e9d-b4f0-d1dd589628ce g.chr10:85971455G>A uc001kcv.3 + 13 1642 c.1537G>A c.(1537-1539)Ggg>Agg p.G513R CDHR1_uc001kcw.3_Missense_Mutation_p.G513R|CDHR1_uc009xst.3_Missense_Mutation_p.G217R|CDHR1_uc001kcx.3_5'Flank NM_033100 NP_149091 Q96JP9 CDHR1_HUMAN Homo sapiens cadherin-related family member 1 (CDHR1), transcript variant 1, mRNA. 513 Cadherin 5. homophilic cell adhesion calcium ion binding|receptor activity breast(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(6)|liver(1)|lung(21)|ovary(1)|prostate(1)|skin(1) 36 TTCCACCTATGGGACTGGGGC 0.577000 56 36 0 0 0.00170553 0 0 N4BP3 23138 broad.mit.edu 37 5 177548809 177548809 + Missense_Mutation SNP A G G TCGA-EE-A2MQ-06A-11D-A197-08 TCGA-EE-A2MQ-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0853f3bd-b4a0-4c59-8370-60a5bd58ba85 860a8640-e651-4e9d-b4f0-d1dd589628ce g.chr5:177548809A>G uc003mik.1 + 4 1689 c.1442A>G c.(1441-1443)gAg>gGg p.E481G N4BP3_uc003mil.1_Missense_Mutation_p.E150G NM_015111 NP_055926 O15049 N4BP3_HUMAN Homo sapiens NEDD4 binding protein 3 (N4BP3), mRNA. 481 cytoplasmic vesicle membrane breast(2)|endometrium(3)|kidney(1)|large_intestine(1)|lung(1)|skin(1) 9 all_cancers(89;0.00294)|Renal(175;0.000269)|Lung NSC(126;0.00858)|all_lung(126;0.0139) all_neural(177;0.00409)|Medulloblastoma(196;0.00498)|all_hematologic(541;0.21) Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178) CGGGGCCAGGAGCAGGCGCTG 0.672000 3 7 0 0 8.12818e-05 0 0 COL22A1 169044 broad.mit.edu 37 8 139838922 139838922 + Silent SNP G A A TCGA-EE-A2MQ-06A-11D-A197-08 TCGA-EE-A2MQ-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0853f3bd-b4a0-4c59-8370-60a5bd58ba85 860a8640-e651-4e9d-b4f0-d1dd589628ce g.chr8:139838922G>A uc003yvd.3 - 5 1395 c.948C>T c.(946-948)atC>atT p.I316I NM_152888 NP_690848 Q8NFW1 COMA1_HUMAN Homo sapiens collagen, type XXII, alpha 1 (COL22A1), mRNA. 316 TSP N-terminal. cell adhesion collagen|cytoplasm structural molecule activity breast(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(2)|kidney(14)|large_intestine(29)|lung(107)|ovary(13)|pancreas(1)|prostate(3)|skin(12)|upper_aerodigestive_tract(15)|urinary_tract(4) 211 all_epithelial(106;1.55e-12)|Lung NSC(106;1.67e-05)|all_lung(105;3.39e-05)|Ovarian(258;0.00672)|Acute lymphoblastic leukemia(118;0.155) BRCA - Breast invasive adenocarcinoma(115;0.0517) TGTACTGGTCGATGACCTGCC 0.527000 HNSCC(7;0.00092) 49 32 0 0 0.000814825 0 0 BEND2 139105 broad.mit.edu 37 X 18189144 18189144 + Missense_Mutation SNP G A A TCGA-EE-A2MQ-06A-11D-A197-08 TCGA-EE-A2MQ-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0853f3bd-b4a0-4c59-8370-60a5bd58ba85 860a8640-e651-4e9d-b4f0-d1dd589628ce g.chrX:18189144G>A uc004cyj.4 - 12 2316 c.2162C>T c.(2161-2163)cCc>cTc p.P721L BEND2_uc010nfb.2_Missense_Mutation_p.P630L NM_153346 NP_699177 Q8NDZ0 BEND2_HUMAN Homo sapiens BEN domain containing 2 (BEND2), transcript variant 1, mRNA. 721 BEN 2. p.P721H(2) NS(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(4)|large_intestine(11)|liver(1)|lung(21)|ovary(3)|prostate(1) 49 AATCTTATTGGGGTCAAGGGC 0.408000 177 98 0 0 0.000781405 0 0 ZBTB16 7704 broad.mit.edu 37 11 114112908 114112908 + Silent SNP C T T TCGA-EE-A2MQ-06A-11D-A197-08 TCGA-EE-A2MQ-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0853f3bd-b4a0-4c59-8370-60a5bd58ba85 860a8640-e651-4e9d-b4f0-d1dd589628ce g.chr11:114112908C>T uc001pop.3 + 4 1737 c.1473C>T c.(1471-1473)ttC>ttT p.F491F ZBTB16_uc001poq.3_Silent_p.F491F NM_006006 NP_005997 Q05516 ZBT16_HUMAN Homo sapiens zinc finger and BTB domain containing 16 (ZBTB16), transcript variant 1, mRNA. 491 apoptosis|central nervous system development|mesonephros development|myeloid cell differentiation|negative regulation of myeloid cell differentiation|negative regulation of transcription, DNA-dependent PML body|nuclear speck|transcriptional repressor complex protein homodimerization activity|zinc ion binding central_nervous_system(1)|large_intestine(2)|skin(1)|upper_aerodigestive_tract(2) 6 all_cancers(61;3.79e-18)|all_epithelial(67;2.32e-10)|all_hematologic(158;2.96e-05)|Melanoma(852;0.000362)|Acute lymphoblastic leukemia(157;0.00108)|Breast(348;0.0104)|all_neural(223;0.0294)|Prostate(24;0.0318)|Medulloblastoma(222;0.0438) BRCA - Breast invasive adenocarcinoma(274;6.75e-06)|Epithelial(105;0.000181)|all cancers(92;0.0018) TGGCCGTCTTCTGTCTGCTGT 0.597000 26 16 0 0 0.00074312 0 0 CACNA2D3 55799 broad.mit.edu 37 3 54537535 54537535 + Missense_Mutation SNP C T T TCGA-EE-A2MQ-06A-11D-A197-08 TCGA-EE-A2MQ-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0853f3bd-b4a0-4c59-8370-60a5bd58ba85 860a8640-e651-4e9d-b4f0-d1dd589628ce g.chr3:54537535C>T uc003dhf.3 + 4 446 c.398C>T c.(397-399)gCt>gTt p.A133V CACNA2D3_uc011beu.1_Non-coding_Transcript|CACNA2D3_uc003dhg.1_Missense_Mutation_p.A39V|CACNA2D3_uc003dhh.1_Non-coding_Transcript|CACNA2D3_uc010hmv.1_Intron NM_018398 NP_060868 Q8IZS8 CA2D3_HUMAN Homo sapiens calcium channel, voltage-dependent, alpha 2/delta subunit 3 (CACNA2D3), mRNA. 133 integral to membrane calcium channel activity|metal ion binding|voltage-gated ion channel activity NS(1)|breast(3)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(17)|lung(17)|ovary(1)|prostate(1)|skin(5)|stomach(1)|urinary_tract(3) 59 KIRC - Kidney renal clear cell carcinoma(284;0.00287)|Kidney(284;0.00327) TACTTCAATGCTGTGCTGATA 0.418000 67 41 0 0 0.000781405 0 0 SPAM1 6677 broad.mit.edu 37 7 123594216 123594216 + Missense_Mutation SNP G A A TCGA-EE-A2MQ-06A-11D-A197-08 TCGA-EE-A2MQ-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0853f3bd-b4a0-4c59-8370-60a5bd58ba85 860a8640-e651-4e9d-b4f0-d1dd589628ce g.chr7:123594216G>A uc003vle.3 + 2 1031 c.592G>A c.(592-594)Gat>Aat p.D198N SPAM1_uc011koa.1_5'Flank|SPAM1_uc003vld.3_Missense_Mutation_p.D198N|SPAM1_uc022aks.1_Missense_Mutation_p.D198N|SPAM1_uc003vlf.4_Missense_Mutation_p.D198N|SPAM1_uc010lku.3_Missense_Mutation_p.D198N NM_003117 NP_003108 P38567 HYALP_HUMAN Homo sapiens sperm adhesion molecule 1 (PH-20 hyaluronidase, zona pellucida binding) (SPAM1), transcript variant 1, mRNA. 198 binding of sperm to zona pellucida|carbohydrate metabolic process|cell adhesion|fusion of sperm to egg plasma membrane anchored to membrane|plasma membrane hyalurononglucosaminidase activity breast(1)|cervix(1)|endometrium(3)|kidney(5)|large_intestine(5)|lung(23)|ovary(3)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1) 46 Hyaluronidase(DB00070) GGCAGGGAAGGATTTCCTGGT 0.373000 58 18 0 0 0.00121646 0 0 HSPG2 3339 broad.mit.edu 37 1 22199211 22199211 + Missense_Mutation SNP G A A TCGA-EE-A2MQ-06A-11D-A197-08 TCGA-EE-A2MQ-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0853f3bd-b4a0-4c59-8370-60a5bd58ba85 860a8640-e651-4e9d-b4f0-d1dd589628ce g.chr1:22199211G>A uc009vqd.3 - 31 3974 c.3934C>T c.(3934-3936)Cac>Tac p.H1312Y HSPG2_uc001bfj.3_Missense_Mutation_p.H1311Y NM_005529 NP_005520 P98160 PGBM_HUMAN Homo sapiens heparan sulfate proteoglycan 2 (HSPG2), mRNA. 1311 Laminin EGF-like 8. angiogenesis|cell adhesion|lipid metabolic process|lipoprotein metabolic process basement membrane|extracellular space|plasma membrane protein C-terminus binding breast(6)|central_nervous_system(1)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(9)|large_intestine(15)|liver(1)|lung(44)|ovary(10)|pancreas(1)|prostate(10)|skin(9)|upper_aerodigestive_tract(3)|urinary_tract(3) 127 Colorectal(325;3.46e-05)|all_lung(284;7.93e-05)|Lung NSC(340;8.71e-05)|Renal(390;0.000219)|Breast(348;0.00222)|Ovarian(437;0.00308)|Myeloproliferative disorder(586;0.0255) UCEC - Uterine corpus endometrioid carcinoma (279;0.0498)|OV - Ovarian serous cystadenocarcinoma(117;1.14e-26)|Colorectal(126;4.18e-07)|COAD - Colon adenocarcinoma(152;1.82e-05)|GBM - Glioblastoma multiforme(114;3.13e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000756)|STAD - Stomach adenocarcinoma(196;0.00656)|KIRC - Kidney renal clear cell carcinoma(1967;0.00942)|READ - Rectum adenocarcinoma(331;0.0721)|Lung(427;0.223) Becaplermin(DB00102)|Palifermin(DB00039) AGGTGGAAGTGGTGGGGCCGG 0.657000 26 7 0 0 0.000157383 0 0 MYH7 4625 broad.mit.edu 37 14 23898283 23898283 + Missense_Mutation SNP C T T TCGA-EE-A2MQ-06A-11D-A197-08 TCGA-EE-A2MQ-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0853f3bd-b4a0-4c59-8370-60a5bd58ba85 860a8640-e651-4e9d-b4f0-d1dd589628ce g.chr14:23898283C>T uc001wjx.3 - 13 1394 c.1288G>A c.(1288-1290)Gca>Aca p.A430T NM_000257 NP_000248 P12883 MYH7_HUMAN Homo sapiens myosin, heavy chain 7, cardiac muscle, beta (MYH7), mRNA. 430 Myosin head-like. A -> E (in CMH1). adult heart development|muscle filament sliding|regulation of heart rate|ventricular cardiac muscle tissue morphogenesis focal adhesion|muscle myosin complex|myosin filament|nucleus|sarcomere ATP binding|actin binding|actin-dependent ATPase activity|calmodulin binding|microfilament motor activity|structural constituent of muscle NS(3)|breast(4)|central_nervous_system(2)|cervix(2)|endometrium(14)|haematopoietic_and_lymphoid_tissue(3)|kidney(5)|large_intestine(19)|lung(57)|ovary(5)|prostate(9)|skin(5)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(5) 137 all_cancers(95;2.54e-05) GBM - Glioblastoma multiforme(265;0.00725) TCATACACTGCCTTGGCCAGT 0.537000 20 39 0 0 0.000781405 0 0 NOTCH2 4853 broad.mit.edu 37 1 120548055 120548055 + Silent SNP T C C rs145641723 by1000genomes TCGA-EE-A2MQ-06A-11D-A197-08 TCGA-EE-A2MQ-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0853f3bd-b4a0-4c59-8370-60a5bd58ba85 860a8640-e651-4e9d-b4f0-d1dd589628ce g.chr1:120548055T>C uc001eik.3 - 2 609 c.312A>G c.(310-312)tcA>tcG p.S104S NOTCH2_uc001eil.3_Silent_p.S104S|NOTCH2_uc021osy.1_Silent_p.S65S|NOTCH2_uc001eim.4_Silent_p.S21S NM_024408 NP_077719 Q04721 NOTC2_HUMAN Homo sapiens notch 2 (NOTCH2), transcript variant 1, mRNA. 104 Notch receptor processing|Notch signaling pathway|anti-apoptosis|bone remodeling|cell cycle arrest|cell fate determination|cell growth|hemopoiesis|induction of apoptosis|negative regulation of cell proliferation|nervous system development|organ morphogenesis|positive regulation of Ras protein signal transduction|regulation of transcription, DNA-dependent|stem cell maintenance|transcription, DNA-dependent Golgi lumen|cell surface|cytosol|endoplasmic reticulum lumen|extracellular region|integral to plasma membrane|nucleoplasm calcium ion binding|ligand-regulated transcription factor activity|protein binding|receptor activity breast(4)|central_nervous_system(6)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(9)|kidney(9)|large_intestine(19)|liver(1)|lung(57)|ovary(4)|pancreas(1)|prostate(7)|skin(24)|stomach(2)|upper_aerodigestive_tract(5)|urinary_tract(1) 158 all_neural(166;0.153) all_lung(203;1.96e-06)|Lung NSC(69;1.47e-05)|all_epithelial(167;0.000809) Lung(183;0.0242)|LUSC - Lung squamous cell carcinoma(189;0.133) GATGAGATGTTGAGTACTGGC 0.567000 """N, F, Mis""" """marginal zone lymphoma, DLBCL""" Alagille Syndrome 640 42 0 0 0.000781405 0 0 SLC25A42 284439 broad.mit.edu 37 19 19217190 19217190 + Nonsense_Mutation SNP G T T TCGA-EE-A2MQ-06A-11D-A197-08 TCGA-EE-A2MQ-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0853f3bd-b4a0-4c59-8370-60a5bd58ba85 860a8640-e651-4e9d-b4f0-d1dd589628ce g.chr19:19217190G>T uc002nlf.2 + 5 649 c.493G>T c.(493-495)Gaa>Taa p.E165* SLC25A42_uc010xqn.1_Nonsense_Mutation_p.E217* NM_178526 NP_848621 Q86VD7 S2542_HUMAN Homo sapiens solute carrier family 25, member 42 (SLC25A42), mRNA. 165 transmembrane transport integral to membrane|mitochondrial inner membrane binding cervix(1)|large_intestine(2)|lung(3) 6 OV - Ovarian serous cystadenocarcinoma(5;5.4e-06)|Epithelial(12;0.000497) AACCCCGAAGGAAATGTGAGT 0.652000 21 6 8.12818e-05 0.000710217 8.12818e-05 1 0 TCF7L2 6934 broad.mit.edu 37 10 114925434 114925434 + Silent SNP C T T rs61724286 TCGA-EE-A2MQ-06A-11D-A197-08 TCGA-EE-A2MQ-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0853f3bd-b4a0-4c59-8370-60a5bd58ba85 860a8640-e651-4e9d-b4f0-d1dd589628ce g.chr10:114925434C>T uc021pyi.1 + 14 2070 c.1563C>T c.(1561-1563)ccC>ccT p.P521P TCF7L2_uc001lah.3_3'UTR|TCF7L2_uc010qro.2_3'UTR|TCF7L2_uc001lae.4_Silent_p.P504P|TCF7L2_uc010qrm.2_3'UTR|TCF7L2_uc010qrn.2_3'UTR|TCF7L2_uc021pyg.1_Silent_p.P237P|TCF7L2_uc021pyh.1_3'UTR|TCF7L2_uc021pyj.1_3'UTR|TCF7L2_uc021pyk.1_Silent_p.P486P|TCF7L2_uc021pyl.1_3'UTR|TCF7L2_uc010qrp.2_3'UTR|TCF7L2_uc021pym.1_3'UTR|TCF7L2_uc021pyn.1_Silent_p.P509P|TCF7L2_uc021pyo.1_3'UTR|TCF7L2_uc021pyp.1_3'UTR|TCF7L2_uc010qrq.2_3'UTR|TCF7L2_uc001lac.4_Silent_p.P498P|TCF7L2_uc010qrk.2_3'UTR|TCF7L2_uc001lad.4_3'UTR|TCF7L2_uc001lag.4_3'UTR|TCF7L2_uc001laf.4_Silent_p.P481P|TCF7L2_uc010qrl.2_Silent_p.P481P|TCF7L2_uc010qrr.2_Silent_p.P436P|TCF7L2_uc010qrs.2_Silent_p.P392P|TCF7L2_uc010qrt.2_Silent_p.P392P|TCF7L2_uc010qru.2_3'UTR|TCF7L2_uc010qrv.2_3'UTR|TCF7L2_uc010qrw.2_3'UTR|TCF7L2_uc010qrx.2_3'UTR NM_030756 NP_110383 Q9NQB0 TF7L2_HUMAN Homo sapiens transcription factor 7-like 2 (T-cell specific, HMG-box) (TCF7L2), transcript variant 2, mRNA. 521 anti-apoptosis|blood vessel development|canonical Wnt receptor signaling pathway involved in positive regulation of epithelial to mesenchymal transition|cell cycle arrest|cell proliferation|fat cell differentiation|glucose homeostasis|maintenance of DNA repeat elements|myoblast cell fate commitment|negative regulation of canonical Wnt receptor signaling pathway|negative regulation of sequence-specific DNA binding transcription factor activity|negative regulation of transcription from RNA polymerase II promoter|pancreas development|positive regulation of heparan sulfate proteoglycan biosynthetic process|positive regulation of insulin secretion|positive regulation of protein binding|positive regulation of protein export from nucleus|positive regulation of protein kinase B signaling cascade|positive regulation of transcription from RNA polymerase II promoter|regulation of hormone metabolic process|regulation of smooth muscle cell proliferation|response to glucose stimulus PML body|beta-catenin-TCF7L2 complex|protein-DNA complex armadillo repeat domain binding|beta-catenin binding|gamma-catenin binding|nuclear hormone receptor binding|protein kinase binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription factor binding|transcription regulatory region DNA binding VTI1A/TCF7L2(8) central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(24)|liver(2)|lung(8)|ovary(1)|skin(1) 41 Breast(234;0.058)|Colorectal(252;0.0615) Epithelial(162;0.00554)|all cancers(201;0.02) GCTCCCCTCCCCGAGACGCCA 0.642000 T VTI1A colorectal 174 102 0 0 0.000781405 0 0 OTOF 9381 broad.mit.edu 37 2 26781361 26781361 + Splice_Site SNP C G G TCGA-EE-A2MQ-06A-11D-A197-08 TCGA-EE-A2MQ-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0853f3bd-b4a0-4c59-8370-60a5bd58ba85 860a8640-e651-4e9d-b4f0-d1dd589628ce g.chr2:26781361C>G uc002rhk.3 - 1 206 c.79_splice c.e1+1 p.G27_splice NM_194248 NP_919224 Q9HC10 OTOF_HUMAN Homo sapiens otoferlin (OTOF), transcript variant 1, mRNA. 27 cellular membrane fusion|sensory perception of sound|synaptic vesicle exocytosis basolateral plasma membrane|cell junction|cytosol|endoplasmic reticulum membrane|integral to membrane|membrane fraction|synaptic vesicle membrane calcium ion binding NS(1)|autonomic_ganglia(1)|breast(9)|central_nervous_system(4)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(14)|lung(35)|ovary(8)|pancreas(1)|prostate(5)|skin(5)|stomach(4)|upper_aerodigestive_tract(3)|urinary_tract(1) 106 Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215) GCTTCCCTACCTCGGAAAGTC 0.652000 45 26 0 0 0.001512 0 0 NRXN1 9378 broad.mit.edu 37 2 51254945 51254945 + Missense_Mutation SNP C T T TCGA-EE-A2MQ-06A-11D-A197-08 TCGA-EE-A2MQ-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0853f3bd-b4a0-4c59-8370-60a5bd58ba85 860a8640-e651-4e9d-b4f0-d1dd589628ce g.chr2:51254945C>T uc021vhh.1 - 0 1388 c.467G>A c.(466-468)gGg>gAg p.G156E NRXN1_uc021vhg.1_Missense_Mutation_p.G156E|NRXN1_uc021vhi.1_Missense_Mutation_p.G156E|NRXN1_uc021vhj.1_Missense_Mutation_p.G156E|NRXN1_uc021vhk.1_Missense_Mutation_p.G156E NM_004801 NP_004792 Q9ULB1 NRX1A_HUMAN Homo sapiens neurexin 1 (NRXN1), transcript variant alpha1, mRNA. 156 Laminin G-like 1. adult behavior|axon guidance|cell adhesion|grooming behavior|learning|neuromuscular process controlling balance|positive regulation of excitatory postsynaptic membrane potential|prepulse inhibition cell surface|integral to plasma membrane metal ion binding|protein binding|receptor activity p.K155K(1) breast(1)|endometrium(3)|kidney(3)|large_intestine(10)|lung(33)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(2) 58 all_hematologic(82;0.152)|Acute lymphoblastic leukemia(82;0.192) Lung(47;0.0813)|LUSC - Lung squamous cell carcinoma(58;0.116) GGGCAGCCCCCCGACGAAAAG 0.662000 15 7 0 0 8.12818e-05 0 0 MYO5B 4645 broad.mit.edu 37 18 47364122 47364122 + Missense_Mutation SNP G C C TCGA-EE-A2MQ-06A-11D-A197-08 TCGA-EE-A2MQ-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0853f3bd-b4a0-4c59-8370-60a5bd58ba85 860a8640-e651-4e9d-b4f0-d1dd589628ce g.chr18:47364122G>C uc002leb.2 - 36 5191 c.4903C>G c.(4903-4905)Ccc>Gcc p.P1635A MYO5B_uc002ldz.3_Missense_Mutation_p.P205A|MYO5B_uc002lea.2_Missense_Mutation_p.P750A NM_001080467 NP_001073936 Q9ULV0 MYO5B_HUMAN Homo sapiens myosin VB (MYO5B), mRNA. 1635 Dilute. protein transport myosin complex ATP binding|actin binding|calmodulin binding|motor activity NS(1)|breast(6)|central_nervous_system(2)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(9)|large_intestine(6)|lung(29)|ovary(3)|pancreas(1)|prostate(1)|skin(9)|upper_aerodigestive_tract(2)|urinary_tract(4) 87 READ - Rectum adenocarcinoma(32;0.103) TAGCCGGTGGGCTTCACACCA 0.483000 62 4 0 0 8.12818e-05 0 0 DDR2 4921 broad.mit.edu 37 1 162731115 162731115 + Silent SNP C T T TCGA-EE-A2MQ-06A-11D-A197-08 TCGA-EE-A2MQ-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0853f3bd-b4a0-4c59-8370-60a5bd58ba85 860a8640-e651-4e9d-b4f0-d1dd589628ce g.chr1:162731115C>T uc001gcf.3 + 9 1435 c.970C>T c.(970-972)Ctg>Ttg p.L324L DDR2_uc001gcg.3_Silent_p.L324L NM_001014796 NP_006173 Q16832 DDR2_HUMAN Homo sapiens discoidin domain receptor tyrosine kinase 2 (DDR2), transcript variant 1, mRNA. 324 cell adhesion integral to plasma membrane ATP binding|transmembrane receptor protein tyrosine kinase activity central_nervous_system(2)|kidney(1)|lung(2)|ovary(1)|skin(1) 7 all_hematologic(112;0.115) BRCA - Breast invasive adenocarcinoma(70;0.113) CCCCCTTGTCCTGGATGACGT 0.507000 27 22 0 0 0.000375601 0 0 TP73 7161 broad.mit.edu 37 1 3639953 3639953 + Missense_Mutation SNP G A A TCGA-EE-A2MQ-06A-11D-A197-08 TCGA-EE-A2MQ-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0853f3bd-b4a0-4c59-8370-60a5bd58ba85 860a8640-e651-4e9d-b4f0-d1dd589628ce g.chr1:3639953G>A uc001akp.3 + 5 762 c.652G>A c.(652-654)Gaa>Aaa p.E218K TP73_uc021ofb.1_Missense_Mutation_p.E218K|TP73_uc021ofc.1_Missense_Mutation_p.E218K|TP73_uc021ofd.1_Missense_Mutation_p.E218K|TP73_uc021ofe.1_Missense_Mutation_p.E218K|TP73_uc021off.1_Missense_Mutation_p.E218K|TP73_uc010nzj.2_Missense_Mutation_p.E169K|TP73_uc021ofg.1_Missense_Mutation_p.E169K|TP73_uc021ofh.1_Missense_Mutation_p.E169K|TP73_uc021ofi.1_Missense_Mutation_p.E169K|TP73_uc001akr.3_Missense_Mutation_p.E169K|TP73_uc009vlk.2_Missense_Mutation_p.E169K|TP73_uc001aks.3_Missense_Mutation_p.E169K|TP73_uc010nzk.2_Missense_Mutation_p.E147K NM_005427 NP_001191121 O15350 P73_HUMAN Homo sapiens tumor protein p73 (TP73), transcript variant 1, mRNA. 218 DNA-binding (Potential). DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|cellular response to UV|mismatch repair|mitotic cell cycle G1/S transition DNA damage checkpoint|negative regulation of JUN kinase activity|negative regulation of neuron apoptosis|negative regulation of transcription from RNA polymerase II promoter|positive regulation of transcription, DNA-dependent|protein tetramerization|response to X-ray|response to gamma radiation chromatin|cytosol|transcription factor complex chromatin binding|damaged DNA binding|double-stranded DNA binding|metal ion binding|p53 binding|protein binding|sequence-specific DNA binding transcription factor activity|transcription factor binding|transcription regulatory region DNA binding|transcription repressor activity breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|lung(8)|ovary(1)|prostate(1) 20 all_cancers(77;0.0395)|Ovarian(185;0.0634)|Lung NSC(156;0.188)|all_lung(157;0.198) all_epithelial(116;7.42e-17)|all_lung(118;1.86e-06)|Lung NSC(185;0.000163)|Renal(390;0.00357)|Breast(487;0.00446)|Hepatocellular(190;0.0218)|Myeloproliferative disorder(586;0.0393)|Lung SC(97;0.109)|Ovarian(437;0.127) Epithelial(90;5.57e-38)|OV - Ovarian serous cystadenocarcinoma(86;1.87e-22)|GBM - Glioblastoma multiforme(42;5.72e-16)|Colorectal(212;2.22e-05)|COAD - Colon adenocarcinoma(227;8.48e-05)|Kidney(185;0.000539)|BRCA - Breast invasive adenocarcinoma(365;0.000868)|STAD - Stomach adenocarcinoma(132;0.0072)|KIRC - Kidney renal clear cell carcinoma(229;0.00751)|Lung(427;0.226) CATCCGCGTGGAAGGCAATAA 0.622000 15 23 0 0 0.000720815 0 0 SYNE1 23345 broad.mit.edu 37 6 152847225 152847225 + Missense_Mutation SNP C T T TCGA-EE-A2MQ-06A-11D-A197-08 TCGA-EE-A2MQ-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0853f3bd-b4a0-4c59-8370-60a5bd58ba85 860a8640-e651-4e9d-b4f0-d1dd589628ce g.chr6:152847225C>T uc021zhb.1 - 2 438 c.215G>A c.(214-216)gGg>gAg p.G72E SYNE1_uc003qot.4_Missense_Mutation_p.G72E|SYNE1_uc003qou.4_Missense_Mutation_p.G72E|SYNE1_uc010kjb.1_Missense_Mutation_p.G72E|SYNE1_uc003qpa.1_Missense_Mutation_p.G72E NM_182961 NP_892006 Q8NF91 SYNE1_HUMAN Homo sapiens spectrin repeat containing, nuclear envelope 1 (SYNE1), transcript variant 1, mRNA. 72 Actin-binding.|CH 1. Golgi organization|cell death|cytoskeletal anchoring at nuclear membrane|muscle cell differentiation|nuclear matrix anchoring at nuclear membrane Golgi apparatus|SUN-KASH complex|cytoskeleton|integral to membrane|nuclear outer membrane|postsynaptic membrane|sarcomere actin binding|lamin binding NS(3)|biliary_tract(1)|breast(17)|central_nervous_system(21)|cervix(3)|endometrium(27)|haematopoietic_and_lymphoid_tissue(4)|kidney(16)|large_intestine(138)|liver(1)|lung(190)|ovary(11)|pancreas(5)|prostate(12)|skin(20)|stomach(3)|upper_aerodigestive_tract(33)|urinary_tract(19) 524 Ovarian(120;0.0955) BRCA - Breast invasive adenocarcinoma(37;0.243) OV - Ovarian serous cystadenocarcinoma(155;2.24e-10) CAGTTTCTGCCCAGACAGGAC 0.428000 HNSCC(10;0.0054) 38 25 0 0 0.000878237 0 0 POM121L12 285877 broad.mit.edu 37 7 53104047 53104047 + Missense_Mutation SNP C T T TCGA-EE-A2MQ-06A-11D-A197-08 TCGA-EE-A2MQ-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0853f3bd-b4a0-4c59-8370-60a5bd58ba85 860a8640-e651-4e9d-b4f0-d1dd589628ce g.chr7:53104047C>T uc003tpz.3 + 0 699 c.683C>T c.(682-684)tCc>tTc p.S228F NM_182595 NP_872401 Q8N7R1 P1L12_HUMAN Homo sapiens POM121 membrane glycoprotein-like 12 (POM121L12), mRNA. 228 p.A227S(1) endometrium(5)|kidney(1)|large_intestine(5)|lung(44)|prostate(2)|skin(2)|upper_aerodigestive_tract(2) 61 GCGGTTGCTTCCTTCGTGCCC 0.642000 42 19 0 0 0.000958276 0 0 APC 324 broad.mit.edu 37 5 112179639 112179639 + Missense_Mutation SNP C T T TCGA-EE-A2MQ-06A-11D-A197-08 TCGA-EE-A2MQ-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0853f3bd-b4a0-4c59-8370-60a5bd58ba85 860a8640-e651-4e9d-b4f0-d1dd589628ce g.chr5:112179639C>T uc003kpz.4 + 16 8541 c.8348C>T c.(8347-8349)cCt>cTt p.P2783L APC_uc011cvt.2_Missense_Mutation_p.P2765L|APC_uc003kpy.4_Missense_Mutation_p.P2783L|APC_uc010jbz.3_Missense_Mutation_p.P2500L|APC_uc010jca.3_Missense_Mutation_p.P2083L NM_001127510 NP_001120982 P25054 APC_HUMAN Homo sapiens adenomatous polyposis coli (APC), transcript variant 2, mRNA. 2783 Ser-rich. canonical Wnt receptor signaling pathway|cell adhesion|cell cycle arrest|cell migration|cellular component disassembly involved in apoptosis|cytokinesis after mitosis|mitotic cell cycle spindle assembly checkpoint|negative regulation of canonical Wnt receptor signaling pathway|negative regulation of cyclin-dependent protein kinase activity|negative regulation of microtubule depolymerization|positive regulation of apoptosis|positive regulation of cell migration|positive regulation of pseudopodium assembly|protein complex assembly|regulation of attachment of spindle microtubules to kinetochore|response to DNA damage stimulus|tight junction assembly APC-Axin-1-beta-catenin complex|Axin-APC-beta-catenin-GSK3B complex|adherens junction|beta-catenin destruction complex|centrosome|cytosol|kinetochore|lamellipodium|lateral plasma membrane|nucleus|ruffle membrane|tight junction beta-catenin binding|gamma-catenin binding|microtubule plus-end binding|protein kinase binding|protein kinase regulator activity p.?(1) NS(7)|adrenal_gland(6)|biliary_tract(5)|bone(6)|breast(29)|central_nervous_system(12)|cervix(2)|endometrium(12)|haematopoietic_and_lymphoid_tissue(6)|kidney(8)|large_intestine(2768)|liver(15)|lung(39)|oesophagus(1)|ovary(12)|pancreas(27)|prostate(15)|salivary_gland(2)|skin(14)|small_intestine(34)|soft_tissue(55)|stomach(136)|thyroid(22)|upper_aerodigestive_tract(8)|urinary_tract(20) 3261 all_cancers(142;3.01e-27)|all_epithelial(76;2.3e-18)|all_hematologic(541;4.32e-09)|Ovarian(225;1.78e-06)|Lung NSC(167;0.000195)|Breast(839;0.000231)|all_lung(232;0.000247)|Colorectal(10;0.000355)|Prostate(80;0.00133) OV - Ovarian serous cystadenocarcinoma(64;1.09e-113)|Epithelial(69;3.79e-112)|all cancers(49;1.67e-104)|BRCA - Breast invasive adenocarcinoma(61;0.00136)|COAD - Colon adenocarcinoma(37;0.00155)|Colorectal(14;0.00191) AGAGTGACTCCTTTTAATTAC 0.468000 12 """D, Mis, N, F, S""" """colorectal, pancreatic, desmoid, hepatoblastoma, glioma, other CNS""" """colorectal, pancreatic, desmoid, hepatoblastoma, glioma, other CNS""" Turcot syndrome;Hereditary Desmoid Disease;Familial Adenomatous Polyposis TSP Lung(16;0.13) 49 28 0 0 0.000339439 0 0 MLL2 8085 broad.mit.edu 37 12 49434624 49434624 + Missense_Mutation SNP G A A TCGA-EE-A2MQ-06A-11D-A197-08 TCGA-EE-A2MQ-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0853f3bd-b4a0-4c59-8370-60a5bd58ba85 860a8640-e651-4e9d-b4f0-d1dd589628ce g.chr12:49434624G>A uc001rta.4 - 30 6929 c.6929C>T c.(6928-6930)cCc>cTc p.P2310L NM_003482 NP_003473 O14686 MLL2_HUMAN Homo sapiens myeloid/lymphoid or mixed-lineage leukemia 2 (MLL2), mRNA. 2310 Pro-rich. chromatin silencing|histone H3-K4 methylation|oocyte growth|positive regulation of cell proliferation|positive regulation of estrogen receptor signaling pathway|positive regulation of transcription from RNA polymerase II promoter|response to estrogen stimulus|transcription, DNA-dependent histone methyltransferase complex histone-lysine N-methyltransferase activity|protein binding|transcription regulatory region DNA binding|zinc ion binding NS(1)|breast(4)|central_nervous_system(38)|cervix(3)|endometrium(22)|haematopoietic_and_lymphoid_tissue(121)|kidney(35)|large_intestine(22)|lung(78)|ovary(3)|pancreas(2)|prostate(13)|skin(7)|stomach(3)|upper_aerodigestive_tract(9)|urinary_tract(5) 366 GCCTGAGGAGGGTGAGTCAAC 0.607000 """N, F, Mis""" """medulloblastoma, renal""" HNSCC(34;0.089) 20 9 0 0 0.000274275 0 0 SPG7 6687 broad.mit.edu 37 16 89598932 89598932 + Silent SNP C T T TCGA-EE-A2MQ-06A-11D-A197-08 TCGA-EE-A2MQ-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0853f3bd-b4a0-4c59-8370-60a5bd58ba85 860a8640-e651-4e9d-b4f0-d1dd589628ce g.chr16:89598932C>T uc002fnj.3 + 8 1233 c.1212C>T c.(1210-1212)atC>atT p.I404I SPG7_uc002fni.3_Silent_p.I404I NM_003119 NP_003110 Q9UQ90 SPG7_HUMAN Homo sapiens spastic paraplegia 7 (pure and complicated autosomal recessive) (SPG7), nuclear gene encoding mitochondrial protein, transcript variant 1, mRNA. 404 cell death|nervous system development|protein catabolic process|proteolysis integral to membrane|mitochondrial membrane ATP binding|metalloendopeptidase activity|nucleoside-triphosphatase activity|unfolded protein binding|zinc ion binding autonomic_ganglia(1)|breast(2)|endometrium(2)|kidney(1)|large_intestine(4)|lung(7)|ovary(2)|urinary_tract(1) 20 all_hematologic(23;0.00824)|Colorectal(91;0.102) all cancers(4;1.39e-07)|OV - Ovarian serous cystadenocarcinoma(4;5.64e-06)|BRCA - Breast invasive adenocarcinoma(80;0.015) CCCCCTGCATCGTCTACATCG 0.617000 45 38 0 0 0.000953801 0 0 NME8 51314 broad.mit.edu 37 7 37936528 37936528 + Missense_Mutation SNP G A A TCGA-EE-A2MQ-06A-11D-A197-08 TCGA-EE-A2MQ-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0853f3bd-b4a0-4c59-8370-60a5bd58ba85 860a8640-e651-4e9d-b4f0-d1dd589628ce g.chr7:37936528G>A uc003tfn.3 + 16 1973 c.1601G>A c.(1600-1602)cGa>cAa p.R534Q NM_016616 NP_057700 Q8N427 TXND3_HUMAN Homo sapiens thioredoxin domain containing 3 (spermatozoa) (TXNDC3), mRNA. 534 NDK 3. CTP biosynthetic process|GTP biosynthetic process|UTP biosynthetic process|cell differentiation|cell redox homeostasis|multicellular organismal development|spermatogenesis cytoplasm|microtubule cytoskeleton ATP binding|nucleoside diphosphate kinase activity GAATGGAGACGATTGATGGGC 0.458000 56 73 0 0 0.000781405 0 0 NRG3 10718 broad.mit.edu 37 10 84745267 84745267 + Missense_Mutation SNP C A A TCGA-EE-A2MQ-06A-11D-A197-08 TCGA-EE-A2MQ-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0853f3bd-b4a0-4c59-8370-60a5bd58ba85 860a8640-e651-4e9d-b4f0-d1dd589628ce g.chr10:84745267C>A uc021pvc.1 + 9 2096 c.2069C>A c.(2068-2070)gCc>gAc p.A690D NRG3_uc010qlz.1_Missense_Mutation_p.A665D|NRG3_uc021pvb.1_Non-coding_Transcript|NRG3_uc001kco.2_Missense_Mutation_p.A666D|NRG3_uc001kcp.2_Missense_Mutation_p.A469D|NRG3_uc001kcq.2_Missense_Mutation_p.A316D|NRG3_uc021pvd.1_Missense_Mutation_p.A445D|NRG3_uc021pve.1_Missense_Mutation_p.A470D|NRG3_uc021pvf.1_Missense_Mutation_p.A316D|NRG3_uc021pvg.1_Missense_Mutation_p.A494D|NRG3_uc021pvh.1_Missense_Mutation_p.A278D|NRG3_uc021pvi.1_Missense_Mutation_p.A496D|NRG3_uc021pvk.1_Missense_Mutation_p.A206D|NRG3_uc001kcr.2_Missense_Mutation_p.A340D|NRG3_uc021pvl.1_Missense_Mutation_p.A316D NM_001010848 NP_001010848 P56975 NRG3_HUMAN Homo sapiens neuregulin 3 (NRG3), transcript variant 1, mRNA. 690 regulation of cell growth extracellular region|integral to plasma membrane growth factor activity|receptor tyrosine kinase binding|transmembrane receptor protein tyrosine kinase activator activity p.A469D(1)|p.A666D(1) breast(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|lung(41)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(2) 69 GBM - Glioblastoma multiforme(1;2.5e-18)|all cancers(1;2.85e-09) GAAAACACAGCCTTTCTCCCC 0.493000 22 40 3.33393e-15 2.96989e-14 0.000953801 1 0 GPD2 2820 broad.mit.edu 37 2 157439371 157439371 + Missense_Mutation SNP G C C TCGA-EE-A2MQ-06A-11D-A197-08 TCGA-EE-A2MQ-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0853f3bd-b4a0-4c59-8370-60a5bd58ba85 860a8640-e651-4e9d-b4f0-d1dd589628ce g.chr2:157439371G>C uc002tzf.4 + 16 2485 c.2125G>C c.(2125-2127)Gaa>Caa p.E709Q GPD2_uc010zch.2_Missense_Mutation_p.E482Q|GPD2_uc002tzd.4_Missense_Mutation_p.E709Q|GPD2_uc002tze.1_Non-coding_Transcript|GPD2_uc021vrl.1_5'Flank NM_001083112 NP_001076581 P43304 GPDM_HUMAN Homo sapiens glycerol-3-phosphate dehydrogenase 2 (mitochondrial) (GPD2), nuclear gene encoding mitochondrial protein, transcript variant 1, mRNA. 709 cellular lipid metabolic process glycerol-3-phosphate dehydrogenase complex|mitochondrial inner membrane calcium ion binding|sn-glycerol-3-phosphate:ubiquinone-8 oxidoreductase activity p.A708V(1) central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(6)|lung(10)|ovary(1)|skin(1)|stomach(1) 22 GAAAACTGCAGAAGAGAACCT 0.438000 72 6 0 0 0.000157383 0 0 KCNJ3 3760 broad.mit.edu 37 2 155555338 155555338 + Silent SNP A G G TCGA-EE-A2MQ-06A-11D-A197-08 TCGA-EE-A2MQ-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0853f3bd-b4a0-4c59-8370-60a5bd58ba85 860a8640-e651-4e9d-b4f0-d1dd589628ce g.chr2:155555338A>G uc002tyv.1 + 0 246 c.51A>G c.(49-51)acA>acG p.T17T KCNJ3_uc010zce.1_Silent_p.T17T|KCNJ3_uc021vrh.1_Silent_p.T17T NM_002239 NP_002230 P48549 IRK3_HUMAN Homo sapiens potassium inwardly-rectifying channel, subfamily J, member 3 (KCNJ3), mRNA. 17 synaptic transmission voltage-gated potassium channel complex G-protein activated inward rectifier potassium channel activity|protein binding breast(2)|endometrium(2)|kidney(3)|large_intestine(9)|lung(30)|pancreas(1)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1) 54 Halothane(DB01159) TAGTGACCACATCGTCCAGCG 0.597000 49 34 0 0 0.00111076 0 0 TTC27 55622 broad.mit.edu 37 2 32859011 32859011 + Missense_Mutation SNP C T T TCGA-EE-A2MQ-06A-11D-A197-08 TCGA-EE-A2MQ-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0853f3bd-b4a0-4c59-8370-60a5bd58ba85 860a8640-e651-4e9d-b4f0-d1dd589628ce g.chr2:32859011C>T uc002rom.3 + 2 608 c.335C>T c.(334-336)cCc>cTc p.P112L TTC27_uc010ymx.2_Missense_Mutation_p.P62L|MIR4765_uc021vfs.1_5'Flank NM_017735 NP_001180438 Q6P3X3 TTC27_HUMAN Homo sapiens tetratricopeptide repeat domain 27 (TTC27), transcript variant 1, mRNA. 112 protein binding breast(1)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(9)|lung(14)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1) 38 TGGACGGGGCCCCCTGTTGAC 0.368000 98 35 0 0 0.00148497 0 0 ZNF7 7553 broad.mit.edu 37 8 146068380 146068380 + Missense_Mutation SNP A G G TCGA-EE-A2MQ-06A-11D-A197-08 TCGA-EE-A2MQ-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0853f3bd-b4a0-4c59-8370-60a5bd58ba85 860a8640-e651-4e9d-b4f0-d1dd589628ce g.chr8:146068380A>G uc010mge.3 + 4 2058 c.1921A>G c.(1921-1923)Ata>Gta p.I641V ZNF7_uc003zeg.4_Missense_Mutation_p.I630V|ZNF7_uc011lln.2_Missense_Mutation_p.I534V|ZNF7_uc003zeh.2_Intron|ZNF7_uc003zek.4_Missense_Mutation_p.I534V|COMMD5_uc003zel.1_Intron NM_003416 NP_003407 P17097 ZNF7_HUMAN Homo sapiens zinc finger protein 7 (ZNF7), mRNA. 630 multicellular organismal development|regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding endometrium(2)|kidney(1)|large_intestine(7)|lung(6)|ovary(5)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 25 all_cancers(97;1.03e-11)|all_epithelial(106;6.69e-11)|Lung NSC(106;4.08e-05)|all_lung(105;0.000125)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155) Breast(495;0.0812)|Ovarian(118;0.0822)|Acute lymphoblastic leukemia(644;0.143) Epithelial(56;8.75e-39)|OV - Ovarian serous cystadenocarcinoma(54;1.13e-38)|all cancers(56;8.48e-34)|BRCA - Breast invasive adenocarcinoma(115;0.0355)|Colorectal(110;0.055) GBM - Glioblastoma multiforme(99;2.11e-07) GGTTAATACTATAAAGAAACT 0.428000 52 24 0 0 0.00047179 0 0 RAPGEF3 10411 broad.mit.edu 37 12 48133923 48133923 + Splice_Site SNP C T T TCGA-EE-A2MQ-06A-11D-A197-08 TCGA-EE-A2MQ-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0853f3bd-b4a0-4c59-8370-60a5bd58ba85 860a8640-e651-4e9d-b4f0-d1dd589628ce g.chr12:48133923C>T uc001rpz.4 - 23 2923 c.2373_splice c.e23+1 p.L791_splice AL831948_uc001rpv.3_Non-coding_Transcript|RAPGEF3_uc001rpw.3_Splice_Site_p.L84_splice|RAPGEF3_uc001rpx.3_Splice_Site_p.L206_splice|RAPGEF3_uc010sln.2_Splice_Site_p.L246_splice|RAPGEF3_uc001rpy.3_Splice_Site|RAPGEF3_uc009zkp.3_Splice_Site_p.L749_splice|RAPGEF3_uc009zkq.3_Splice_Site_p.L749_splice NM_001098531 NP_006096 A8K2G5 A8K2G5_HUMAN Homo sapiens Rap guanine nucleotide exchange factor (GEF) 3 (RAPGEF3), transcript variant 1, mRNA. 749 regulation of protein phosphorylation|regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction cAMP-dependent protein kinase complex cAMP-dependent protein kinase regulator activity|guanyl-nucleotide exchange factor activity endometrium(1)|kidney(2)|large_intestine(4)|lung(9)|pancreas(1)|prostate(1)|skin(7) 25 Lung SC(27;0.192) GBM - Glioblastoma multiforme(48;0.0375) GGAGCACTCACCAGCAGCCTC 0.667000 7 3 0 0 0.00116845 0 0 AKR1C3 8644 broad.mit.edu 37 10 5009146 5009146 + Missense_Mutation SNP T G G TCGA-EE-A2MQ-06A-11D-A197-08 TCGA-EE-A2MQ-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0853f3bd-b4a0-4c59-8370-60a5bd58ba85 860a8640-e651-4e9d-b4f0-d1dd589628ce g.chr10:5009146T>G uc001iho.3 + 7 1121 c.280T>G c.(280-282)Ttg>Gtg p.L94V AKR1C3_uc001ihr.3_Intron|AKR1C3_uc009xhx.2_Missense_Mutation_p.L94V|AKR1C3_uc001ihq.3_Missense_Mutation_p.L94V NM_001353 NP_001344 P42330 AK1C3_HUMAN Homo sapiens aldo-keto reductase family 1, member C1 (dihydrodiol dehydrogenase 1; 20-alpha (3-alpha)-hydroxysteroid dehydrogenase) (AKR1C1), mRNA. 94 prostaglandin metabolic process cytoplasm aldo-keto reductase (NADP) activity|androsterone dehydrogenase (A-specific) activity|indanol dehydrogenase activity|prostaglandin-F synthase activity|testosterone 17-beta-dehydrogenase (NAD+) activity|testosterone 17-beta-dehydrogenase (NADP+) activity|trans-1,2-dihydrobenzene-1,2-diol dehydrogenase activity breast(2)|central_nervous_system(1)|endometrium(1)|large_intestine(3)|lung(6)|skin(1) 14 Dimethyl sulfoxide(DB01093)|NADH(DB00157) TCGACCAGAGTTGGTCCGACC 0.413000 84 7 0 0 0.000274275 0 0 EEPD1 80820 broad.mit.edu 37 7 36320782 36320782 + Missense_Mutation SNP G C C TCGA-EE-A2MQ-06A-11D-A197-08 TCGA-EE-A2MQ-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0853f3bd-b4a0-4c59-8370-60a5bd58ba85 860a8640-e651-4e9d-b4f0-d1dd589628ce g.chr7:36320782G>C uc003tfa.3 + 3 1629 c.989G>C c.(988-990)cGg>cCg p.R330P NM_030636 NP_085139 Q7L9B9 EEPD1_HUMAN Homo sapiens endonuclease/exonuclease/phosphatase family domain containing 1 (EEPD1), mRNA. 330 DNA repair DNA binding endometrium(2)|large_intestine(3)|lung(10)|ovary(1)|pancreas(1)|skin(1) 18 AAGGGGCCCCGGGGATGCTGG 0.567000 35 31 0 0 0.000814825 0 0 OR2L2 26246 broad.mit.edu 37 1 248202226 248202226 + Silent SNP G A A TCGA-EE-A2MQ-06A-11D-A197-08 TCGA-EE-A2MQ-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0853f3bd-b4a0-4c59-8370-60a5bd58ba85 860a8640-e651-4e9d-b4f0-d1dd589628ce g.chr1:248202226G>A uc001idw.3 + 0 753 c.657G>A c.(655-657)cgG>cgA p.R219R OR2L13_uc001ids.3_Intron NM_001004686 NP_001004686 Q8NH16 OR2L2_HUMAN Homo sapiens olfactory receptor, family 2, subfamily L, member 2 (OR2L2), mRNA. 219 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity p.G218C(1)|p.R219Q(1)|p.R219L(1) NS(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(28)|ovary(1)|skin(4)|urinary_tract(1) 42 all_cancers(71;0.000149)|all_epithelial(71;1.27e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136) OV - Ovarian serous cystadenocarcinoma(106;0.0278) CCTATGGCCGGGTTCTCCTTG 0.502000 102 35 0 0 0.00058488 0 0 NR2C1 7181 broad.mit.edu 37 12 95456372 95456372 + Missense_Mutation SNP G A A TCGA-EE-A2MQ-06A-11D-A197-08 TCGA-EE-A2MQ-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0853f3bd-b4a0-4c59-8370-60a5bd58ba85 860a8640-e651-4e9d-b4f0-d1dd589628ce g.chr12:95456372G>A uc001tdm.4 - 2 453 c.197C>T c.(196-198)cCg>cTg p.P66L NR2C1_uc010suu.1_Missense_Mutation_p.P66L|NR2C1_uc001tdn.4_Missense_Mutation_p.P66L|NR2C1_uc001tdo.4_Missense_Mutation_p.P66L NM_003297 NP_003288 P13056 NR2C1_HUMAN Homo sapiens nuclear receptor subfamily 2, group C, member 1 (NR2C1), transcript variant 1, mRNA. 66 Required for interaction with KAT2B (By similarity). regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor PML body sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|steroid hormone receptor activity|zinc ion binding endometrium(1)|kidney(1)|large_intestine(5)|lung(5)|ovary(1) 13 AACTTTTCCCGGAGTGGAATC 0.448000 17 16 0 0 0.000308642 0 0 DGAT2 84649 broad.mit.edu 37 11 75509401 75509401 + Silent SNP C T T TCGA-EE-A2MQ-06A-11D-A197-08 TCGA-EE-A2MQ-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0853f3bd-b4a0-4c59-8370-60a5bd58ba85 860a8640-e651-4e9d-b4f0-d1dd589628ce g.chr11:75509401C>T uc001oxa.3 + 6 1198 c.939C>T c.(937-939)atC>atT p.I313I DGAT2_uc001oxb.3_Silent_p.I270I NM_032564 NP_115953 Q96PD7 DGAT2_HUMAN Homo sapiens diacylglycerol O-acyltransferase 2 (DGAT2), transcript variant 1, mRNA. 313 glycerol metabolic process|triglyceride biosynthetic process endoplasmic reticulum membrane|integral to membrane diacylglycerol O-acyltransferase activity endometrium(3)|large_intestine(5)|lung(5)|prostate(2)|skin(2) 17 Ovarian(111;0.103) CCCCATGCATCTTCCATGGTC 0.572000 42 29 0 0 0.00106085 0 0 SFXN5 94097 broad.mit.edu 37 2 73188368 73188368 + Silent SNP G A A TCGA-EE-A2MQ-06A-11D-A197-08 TCGA-EE-A2MQ-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0853f3bd-b4a0-4c59-8370-60a5bd58ba85 860a8640-e651-4e9d-b4f0-d1dd589628ce g.chr2:73188368G>A uc002siq.3 - 12 968 c.837C>T c.(835-837)ctC>ctT p.L279L SFXN5_uc002sip.3_Intron|SFXN5_uc002sio.3_Silent_p.L171L|SFXN5_uc010yrc.2_Silent_p.L128L|SFXN5_uc010fet.3_Missense_Mutation_p.S212F|SFXN5_uc010fer.3_Intron|SFXN5_uc010feq.3_Silent_p.L61L|SFXN5_uc010fes.3_Silent_p.L61L NM_144579 NP_653180 Q8TD22 SFXN5_HUMAN Homo sapiens sideroflexin 5 (SFXN5), nuclear gene encoding mitochondrial protein, mRNA. 279 iron ion homeostasis integral to membrane cation transmembrane transporter activity breast(1)|cervix(1)|endometrium(1)|large_intestine(2)|lung(1)|ovary(2)|prostate(1) 9 GTGCCTGCAGGAGAGCCGTCC 0.687000 17 7 0 0 0.000274275 0 0 OR6V1 346517 broad.mit.edu 37 7 142749795 142749795 + Missense_Mutation SNP C T T TCGA-EE-A2MQ-06A-11D-A197-08 TCGA-EE-A2MQ-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0853f3bd-b4a0-4c59-8370-60a5bd58ba85 860a8640-e651-4e9d-b4f0-d1dd589628ce g.chr7:142749795C>T uc011ksv.2 + 0 358 c.358C>T c.(358-360)Cgc>Tgc p.R120C NM_001001667 NP_001001667 Q8N148 OR6V1_HUMAN Homo sapiens olfactory receptor, family 6, subfamily V, member 1 (OR6V1), mRNA. 120 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity endometrium(2)|kidney(2)|large_intestine(1)|lung(13)|ovary(1)|upper_aerodigestive_tract(1) 20 Melanoma(164;0.059) GGCCCTTGATCGCTTTGTGGC 0.577000 82 31 0 0 0.00178596 0 0 CACNA1A 773 broad.mit.edu 37 19 13356002 13356002 + Missense_Mutation SNP C G G TCGA-EE-A2MQ-06A-11D-A197-08 TCGA-EE-A2MQ-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0853f3bd-b4a0-4c59-8370-60a5bd58ba85 860a8640-e651-4e9d-b4f0-d1dd589628ce g.chr19:13356002C>G uc002mwy.3 - 30 5180 c.4944G>C c.(4942-4944)gaG>gaC p.E1648D CACNA1A_uc002mwx.3_Missense_Mutation_p.E354D|CACNA1A_uc010dzc.2_Missense_Mutation_p.E1174D|CACNA1A_uc010xnd.2_Missense_Mutation_p.E1651D|CACNA1A_uc021ups.1_Missense_Mutation_p.E1648D|CACNA1A_uc010xne.2_Missense_Mutation_p.E1651D|CACNA1A_uc010dze.2_Missense_Mutation_p.E1648D|CACNA1A_uc021upt.1_Missense_Mutation_p.E1649D|CACNA1A_uc002mwv.3_Missense_Mutation_p.E165D NM_001127222 NP_001120694 O00555 CAC1A_HUMAN Homo sapiens calcium channel, voltage-dependent, P/Q type, alpha 1A subunit (CACNA1A), transcript variant 4, mRNA. 1649 cell death|elevation of cytosolic calcium ion concentration|energy reserve metabolic process|membrane depolarization|regulation of insulin secretion cytoplasm|nucleus syntaxin binding breast(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(25)|prostate(2)|urinary_tract(1) 42 OV - Ovarian serous cystadenocarcinoma(19;5.07e-21) Bepridil(DB01244)|Cinnarizine(DB00568)|Loperamide(DB00836)|Nisoldipine(DB00401)|Pregabalin(DB00230) TTACCCCAAACTCAGTCACGA 0.587000 54 5 0 0 0.000157383 0 0 HEATR8 374977 broad.mit.edu 37 1 55118647 55118647 + Silent SNP G A A TCGA-EE-A2MQ-06A-11D-A197-08 TCGA-EE-A2MQ-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0853f3bd-b4a0-4c59-8370-60a5bd58ba85 860a8640-e651-4e9d-b4f0-d1dd589628ce g.chr1:55118647G>A uc010ooe.1 + 2 372 c.48G>A c.(46-48)aaG>aaA p.K16K HEATR8_uc001cxq.3_Non-coding_Transcript|HEATR8_uc001cxo.2_Silent_p.K16K|HEATR8_uc010ooc.1_Intron|HEATR8_uc010ood.1_Intron|HEATR8_uc001cxs.2_Non-coding_Transcript|HEATR8_uc010oof.1_Non-coding_Transcript|HEATR8_uc001cxr.1_Non-coding_Transcript|HEATR8_uc010oog.1_Silent_p.K16K|HEATR8_uc010ooh.1_Non-coding_Transcript|HEATR8_uc009vzq.1_Non-coding_Transcript|HEATR8_uc001cxt.1_Non-coding_Transcript NM_001039464 NP_001034553 Q68CQ1 HEAT8_HUMAN Homo sapiens HEAT repeat containing 8 (HEATR8), transcript variant 1, mRNA. 16 integral to membrane binding breast(3)|central_nervous_system(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(17)|prostate(5)|skin(1)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 42 AAGACCCAAAGATGACACCAA 0.592000 51 17 0 0 0.000958276 0 0 RABGAP1L 9910 broad.mit.edu 37 1 174200384 174200385 + Missense_Mutation DNP CC AA AA TCGA-EE-A2MQ-06A-11D-A197-08 TCGA-EE-A2MQ-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0853f3bd-b4a0-4c59-8370-60a5bd58ba85 860a8640-e651-4e9d-b4f0-d1dd589628ce g.chr1:174200384_174200385CC>AA uc001gjx.3 + 3 710_711 c.433_434CC>AA c.(433-435)cca>AAa p.P145K RABGAP1L_uc009wwq.2_Missense_Mutation_p.P145K|RABGAP1L_uc001gjw.3_Missense_Mutation_p.P108K NM_014857 NP_055672 Q5R372 RBG1L_HUMAN Homo sapiens RAB GTPase activating protein 1-like (RABGAP1L), transcript variant 1, mRNA. 145 PID. regulation of protein localization Golgi apparatus|early endosome|nucleus Rab GTPase activator activity NS(1)|breast(2)|endometrium(4)|kidney(5)|large_intestine(7)|lung(21)|ovary(2)|prostate(1)|skin(2) 45 GGTTTCTTCCCCACGTAATGAA 0.416000 192 8 0 0 6.4e-05 0 0 KRT37 8688 broad.mit.edu 37 17 39578656 39578656 + Missense_Mutation SNP C T T TCGA-EE-A2MQ-06A-11D-A197-08 TCGA-EE-A2MQ-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0853f3bd-b4a0-4c59-8370-60a5bd58ba85 860a8640-e651-4e9d-b4f0-d1dd589628ce g.chr17:39578656C>T uc002hwp.1 - 3 810 c.763G>A c.(763-765)Gag>Aag p.E255K NM_003770 NP_003761 O76014 KRT37_HUMAN Homo sapiens keratin 37 (KRT37), mRNA. 255 Linker 12.|Rod. intermediate filament structural molecule activity NS(1)|breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(9)|lung(6)|skin(3) 25 Breast(137;0.000496) CGGAACTTCTCCCCCAGCTGA 0.557000 34 46 0 0 0.000781405 0 0 CHRNG 1146 broad.mit.edu 37 2 233409492 233409492 + Silent SNP G A A TCGA-EE-A2MQ-06A-11D-A197-08 TCGA-EE-A2MQ-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0853f3bd-b4a0-4c59-8370-60a5bd58ba85 860a8640-e651-4e9d-b4f0-d1dd589628ce g.chr2:233409492G>A uc002vsx.1 + 10 1281 c.1260G>A c.(1258-1260)ccG>ccA p.P420P CHRNG_uc010fye.1_Silent_p.P368P NM_005199 NP_005190 P07510 ACHG_HUMAN Homo sapiens cholinergic receptor, nicotinic, gamma (CHRNG), mRNA. 420 muscle contraction cell junction|postsynaptic membrane acetylcholine receptor activity breast(2)|endometrium(3)|large_intestine(4)|lung(12)|upper_aerodigestive_tract(1) 22 all_hematologic(139;0.00793)|Renal(207;0.0112)|Acute lymphoblastic leukemia(138;0.0182)|all_lung(227;0.0449)|Lung NSC(271;0.132) Epithelial(121;6.39e-16)|BRCA - Breast invasive adenocarcinoma(100;0.00079)|LUSC - Lung squamous cell carcinoma(224;0.00757)|Lung(119;0.0086) AGAAAGGCCCGGAGTTAGGGC 0.582000 40 24 0 0 0.001512 0 0 PIKFYVE 200576 broad.mit.edu 37 2 209168922 209168922 + Missense_Mutation SNP C T T TCGA-EE-A2MQ-06A-11D-A197-08 TCGA-EE-A2MQ-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0853f3bd-b4a0-4c59-8370-60a5bd58ba85 860a8640-e651-4e9d-b4f0-d1dd589628ce g.chr2:209168922C>T uc002vcz.3 + 10 1506 c.1348C>T c.(1348-1350)Ccc>Tcc p.P450S PIKFYVE_uc010fun.1_Missense_Mutation_p.P131S|PIKFYVE_uc002vcy.1_Missense_Mutation_p.P450S|PIKFYVE_uc002vcw.3_Missense_Mutation_p.P450S|PIKFYVE_uc002vcv.3_Missense_Mutation_p.P353S|PIKFYVE_uc002vcx.3_Missense_Mutation_p.P364S NM_015040 NP_055855 Q9Y2I7 FYV1_HUMAN Homo sapiens phosphoinositide kinase, FYVE finger containing (PIKFYVE), transcript variant 2, mRNA. 450 cellular protein metabolic process|intracellular signal transduction|protein localization to nucleus|retrograde transport, endosome to Golgi early endosome membrane|membrane raft 1-phosphatidylinositol-3-phosphate 5-kinase activity|1-phosphatidylinositol-4-phosphate 5-kinase activity|ATP binding|metal ion binding|protein binding NS(1)|autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|endometrium(14)|kidney(6)|large_intestine(25)|lung(40)|ovary(7)|pancreas(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(2) 107 GACGCCTTCTCCCGACAGTGA 0.443000 45 21 0 0 0.00188189 0 0 SCN5A 6331 broad.mit.edu 37 3 38674791 38674791 + Missense_Mutation SNP T C C TCGA-EE-A2MQ-06A-11D-A197-08 TCGA-EE-A2MQ-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0853f3bd-b4a0-4c59-8370-60a5bd58ba85 860a8640-e651-4e9d-b4f0-d1dd589628ce g.chr3:38674791T>C uc021wvo.1 - 0 60 c.8A>G c.(7-9)aAc>aGc p.N3S SCN5A_uc021wvk.1_Missense_Mutation_p.N3S|SCN5A_uc021wvl.1_Missense_Mutation_p.N3S|SCN5A_uc021wvm.1_Missense_Mutation_p.N3S|SCN5A_uc021wvn.1_Missense_Mutation_p.N3S|SCN5A_uc021wvp.1_Missense_Mutation_p.N3S|SCN5A_uc021wvq.1_Missense_Mutation_p.N3S|SCN5A_uc021wvr.1_Missense_Mutation_p.N3S|SCN5A_uc021wvs.1_Missense_Mutation_p.N3S|SCN5A_uc021wvt.1_Missense_Mutation_p.N3S|SCN5A_uc021wvu.1_Missense_Mutation_p.N3S|SCN5A_uc021wvv.1_Missense_Mutation_p.N3S|SCN5A_uc021wvx.1_Missense_Mutation_p.T6A NM_198056 NP_932173 Q14524 SCN5A_HUMAN Homo sapiens sodium channel, voltage-gated, type V, alpha subunit (SCN5A), transcript variant 1, mRNA. 3 blood circulation|cellular response to calcium ion|muscle contraction|regulation of heart contraction sarcolemma|voltage-gated sodium channel complex protein binding|voltage-gated sodium channel activity NS(3)|breast(2)|central_nervous_system(3)|cervix(2)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(25)|lung(27)|ovary(6)|pancreas(3)|prostate(10)|skin(9)|upper_aerodigestive_tract(4) 107 Medulloblastoma(35;0.163) KIRC - Kidney renal clear cell carcinoma(284;0.0822)|Kidney(284;0.1) Benzonatate(DB00868)|Bepridil(DB01244)|Carbamazepine(DB00564)|Cocaine(DB00907)|Dibucaine(DB00527)|Disopyramide(DB00280)|Encainide(DB01228)|Ethotoin(DB00754)|Flecainide(DB01195)|Fosphenytoin(DB01320)|Hexylcaine(DB00473)|Indecainide(DB00192)|Lamotrigine(DB00555)|Lidocaine(DB00281)|Mephenytoin(DB00532)|Mexiletine(DB00379)|Mibefradil(DB01388)|Moricizine(DB00680)|Oxcarbazepine(DB00776)|Phenytoin(DB00252)|Prilocaine(DB00750)|Procainamide(DB01035)|Propafenone(DB01182)|Quinidine(DB00908)|Riluzole(DB00740)|Tocainide(DB01056)|Verapamil(DB00661) TAATAGGAAGTTTGCCATCTT 0.592000 38 13 0 0 0.000422831 0 0 EPHA10 284656 broad.mit.edu 37 1 38227621 38227621 + Silent SNP G A A rs138523815 TCGA-EE-A2MQ-06A-11D-A197-08 TCGA-EE-A2MQ-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0853f3bd-b4a0-4c59-8370-60a5bd58ba85 860a8640-e651-4e9d-b4f0-d1dd589628ce g.chr1:38227621G>A uc009vvi.3 - 2 392 c.306C>T c.(304-306)ttC>ttT p.F102F EPHA10_uc001cbw.4_Silent_p.F102F NM_001099439 NP_001092909 Q5JZY3 EPHAA_HUMAN Homo sapiens EPH receptor A10 (EPHA10), transcript variant 3, mRNA. 102 extracellular region|integral to membrane|integral to plasma membrane ATP binding|ephrin receptor activity|protein binding|transmembrane-ephrin receptor activity NS(2)|breast(4)|cervix(1)|endometrium(5)|kidney(4)|large_intestine(4)|lung(13)|prostate(3)|skin(8)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(2) 50 Acute lymphoblastic leukemia(166;0.074)|all_hematologic(146;0.197) Myeloproliferative disorder(586;0.0255)|all_neural(195;0.164) GCAGTTCCACGAAGATGCGCT 0.612000 129 34 0 0 0.000953801 0 0 VEZF1 7716 broad.mit.edu 37 17 56052172 56052172 + Missense_Mutation SNP C A A TCGA-EE-A2MQ-06A-11D-A197-08 TCGA-EE-A2MQ-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0853f3bd-b4a0-4c59-8370-60a5bd58ba85 860a8640-e651-4e9d-b4f0-d1dd589628ce g.chr17:56052172C>A uc002ivf.1 - 5 1371 c.1228G>T c.(1228-1230)Ggg>Tgg p.G410W NM_007146 NP_009077 Q14119 VEZF1_HUMAN Homo sapiens vascular endothelial zinc finger 1 (VEZF1), mRNA. 410 4 X 7 AA repeats of P-[LV]-T-[IL]-T-[ST]- P. G -> E (in Ref. 1; BAA05663). cellular defense response|regulation of transcription from RNA polymerase II promoter|transcription from RNA polymerase II promoter nucleus DNA binding|zinc ion binding breast(1)|endometrium(1)|kidney(2)|lung(5)|ovary(1) 10 GACATAGTCCCAGACGACACA 0.463000 82 5 0.000602214 0.00520509 0.000602214 1 0 C12orf51 283450 broad.mit.edu 37 12 112690352 112690352 + Missense_Mutation SNP G A A TCGA-EE-A2MQ-06A-11D-A197-08 TCGA-EE-A2MQ-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0853f3bd-b4a0-4c59-8370-60a5bd58ba85 860a8640-e651-4e9d-b4f0-d1dd589628ce g.chr12:112690352G>A uc021reb.1 - 22 3422 c.3026C>T c.(3025-3027)cCc>cTc p.P1009L C12orf51_uc010syk.1_Intron|C12orf51_uc001tts.2_Intron|C12orf51_uc001ttt.3_Intron NM_001109662 NP_001103132 Homo sapiens chromosome 12 open reading frame 51 (C12orf51), mRNA. breast(1)|central_nervous_system(1)|cervix(1)|endometrium(15)|kidney(6)|large_intestine(16)|lung(49)|ovary(4)|prostate(1)|urinary_tract(6) 100 TAAGGAAGGGGGGGAAATGCA 0.398000 46 34 0 0 0.000814825 0 0 GABRA6 2559 broad.mit.edu 37 5 161117247 161117247 + Silent SNP G A A TCGA-EE-A2MQ-06A-11D-A197-08 TCGA-EE-A2MQ-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0853f3bd-b4a0-4c59-8370-60a5bd58ba85 860a8640-e651-4e9d-b4f0-d1dd589628ce g.chr5:161117247G>A uc003lyu.2 + 6 1052 c.714G>A c.(712-714)agG>agA p.R238R GABRA6_uc003lyv.2_Silent_p.R9R NM_000811 NP_000802 Q16445 GBRA6_HUMAN Homo sapiens gamma-aminobutyric acid (GABA) A receptor, alpha 6 (GABRA6), mRNA. 238 gamma-aminobutyric acid signaling pathway cell junction|chloride channel complex|integral to plasma membrane|postsynaptic membrane benzodiazepine receptor activity|chloride channel activity breast(1)|central_nervous_system(2)|endometrium(6)|large_intestine(9)|liver(2)|lung(22)|ovary(7)|skin(6)|urinary_tract(2) 57 Renal(175;0.00259) Medulloblastoma(196;0.0208)|all_neural(177;0.0672) Kidney(164;7.83e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525) Alprazolam(DB00404)|Ethchlorvynol(DB00189)|Flunitrazepam(DB01544)|Flurazepam(DB00690)|Lorazepam(DB00186)|Meprobamate(DB00371)|Midazolam(DB00683) ACTTGCAAAGGAAGATGGGCT 0.398000 TCGA Ovarian(5;0.080) 18 31 0 0 0.00058488 0 0 GGA2 23062 broad.mit.edu 37 16 23489773 23489773 + Missense_Mutation SNP G A A TCGA-EE-A2MQ-06A-11D-A197-08 TCGA-EE-A2MQ-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0853f3bd-b4a0-4c59-8370-60a5bd58ba85 860a8640-e651-4e9d-b4f0-d1dd589628ce g.chr16:23489773G>A uc002dlq.3 - 12 1291 c.1208C>T c.(1207-1209)aCg>aTg p.T403M GGA2_uc010bxo.2_Non-coding_Transcript NM_015044 NP_055859 Q9UJY4 GGA2_HUMAN Homo sapiens golgi-associated, gamma adaptin ear containing, ARF binding protein 2 (GGA2), mRNA. 403 Unstructured hinge. intracellular protein transport|vesicle-mediated transport clathrin adaptor complex|clathrin-coated vesicle|endosome membrane|trans-Golgi network ADP-ribosylation factor binding NS(1)|breast(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(9)|lung(4)|ovary(1) 21 GBM - Glioblastoma multiforme(48;0.0386) GCCTGGCAGCGTGCTGGAGGA 0.527000 46 24 0 0 0.00106085 0 0 FBXL13 222235 broad.mit.edu 37 7 102669176 102669176 + Missense_Mutation SNP G A A TCGA-EE-A2MQ-06A-11D-A197-08 TCGA-EE-A2MQ-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0853f3bd-b4a0-4c59-8370-60a5bd58ba85 860a8640-e651-4e9d-b4f0-d1dd589628ce g.chr7:102669176G>A uc003vaq.2 - 3 515 c.88C>T c.(88-90)Cgt>Tgt p.R30C FBXL13_uc010lir.1_Missense_Mutation_p.R30C|FBXL13_uc003var.2_Non-coding_Transcript|FBXL13_uc003vas.2_Missense_Mutation_p.R30C|FBXL13_uc003vav.2_Intron NM_145032 NP_659469 Q8NEE6 FXL13_HUMAN Homo sapiens F-box and leucine-rich repeat protein 13 (FBXL13), transcript variant 1, mRNA. 30 NS(1)|breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(9)|skin(3)|stomach(1) 27 TCATTTGTACGAGCTATGTCT 0.333000 47 19 0 0 0.00074312 0 0 MUC16 94025 broad.mit.edu 37 19 9046631 9046631 + Missense_Mutation SNP C T T TCGA-EE-A2MQ-06A-11D-A197-08 TCGA-EE-A2MQ-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0853f3bd-b4a0-4c59-8370-60a5bd58ba85 860a8640-e651-4e9d-b4f0-d1dd589628ce g.chr19:9046631C>T uc002mkp.3 - 4 35204 c.35000G>A c.(34999-35001)gGg>gAg p.G11667E NM_024690 NP_078966 Q8WXI7 MUC16_HUMAN Homo sapiens mucin 16, cell surface associated (MUC16), mRNA. 11669 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 AGTCTGTGTCCCAGGATGGGT 0.517000 71 23 0 0 0.00188189 0 0 PRKCB 5579 broad.mit.edu 37 16 24202506 24202506 + Silent SNP G A A TCGA-EE-A2MQ-06A-11D-A197-08 TCGA-EE-A2MQ-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0853f3bd-b4a0-4c59-8370-60a5bd58ba85 860a8640-e651-4e9d-b4f0-d1dd589628ce g.chr16:24202506G>A uc002dmd.3 + 15 2015 c.1818G>A c.(1816-1818)gaG>gaA p.E606E PRKCB_uc002dme.3_Silent_p.E606E NM_212535 NP_997700 P05771 KPCB_HUMAN Homo sapiens protein kinase C, beta (PRKCB), transcript variant 1, mRNA. 606 AGC-kinase C-terminal. B cell activation|B cell receptor signaling pathway|apoptosis|intracellular signal transduction|lipoprotein transport|platelet activation|positive regulation of I-kappaB kinase/NF-kappaB cascade|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor|synaptic transmission|transcription, DNA-dependent cytosol|nucleus|plasma membrane ATP binding|androgen receptor binding|chromatin binding|histone binding|histone kinase activity (H3-T6 specific)|ligand-dependent nuclear receptor transcription coactivator activity|protein kinase C activity|protein kinase C binding|zinc ion binding central_nervous_system(3)|large_intestine(1)|lung(2)|ovary(3) 9 Vitamin E(DB00163) TTGATTGGGAGAAACTTGAAC 0.478000 64 43 0 0 0.000589545 0 0 PHF3 23469 broad.mit.edu 37 6 64421505 64421505 + Silent SNP C T T TCGA-EE-A2MQ-06A-11D-A197-08 TCGA-EE-A2MQ-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0853f3bd-b4a0-4c59-8370-60a5bd58ba85 860a8640-e651-4e9d-b4f0-d1dd589628ce g.chr6:64421505C>T uc003pep.1 + 14 4046 c.4021C>T c.(4021-4023)Cta>Tta p.L1341L PHF3_uc003pen.2_Silent_p.L1253L|PHF3_uc011dxs.1_Silent_p.L610L NM_015153 NP_055968 Q92576 PHF3_HUMAN Homo sapiens PHD finger protein 3 (PHF3), mRNA. 1341 multicellular organismal development|transcription, DNA-dependent nucleus zinc ion binding breast(7)|cervix(2)|endometrium(8)|kidney(7)|large_intestine(18)|lung(21)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(6) 75 all_cancers(3;0.0241)|all_epithelial(2;0.00306)|Lung NSC(77;0.121) LUSC - Lung squamous cell carcinoma(74;0.0644)|Lung(124;0.148) TAGACCTAATCTATTGTTGGG 0.373000 71 43 0 0 0.000680045 0 0 NEB 4703 broad.mit.edu 37 2 152408283 152408283 + Missense_Mutation SNP C T T TCGA-EE-A2MQ-06A-11D-A197-08 TCGA-EE-A2MQ-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0853f3bd-b4a0-4c59-8370-60a5bd58ba85 860a8640-e651-4e9d-b4f0-d1dd589628ce g.chr2:152408283C>T uc021vrb.1 - 99 14839 c.14810G>A c.(14809-14811)cGg>cAg p.R4937Q NEB_uc002txr.3_Missense_Mutation_p.R1403Q|NEB_uc002txu.3_Missense_Mutation_p.R6638Q|NEB_uc021vrc.1_Missense_Mutation_p.R6638Q|NEB_uc010fnx.3_Missense_Mutation_p.R4925Q|NEB_uc021vrd.1_Missense_Mutation_p.R4937Q NM_004543 NP_004534 P20929 NEBU_HUMAN Homo sapiens nebulin (NEB), transcript variant 3, mRNA. 4937 muscle filament sliding|muscle organ development|regulation of actin filament length|somatic muscle development Z disc|actin cytoskeleton|cytosol actin binding|structural constituent of muscle NS(5)|autonomic_ganglia(3)|breast(9)|central_nervous_system(5)|cervix(3)|endometrium(35)|kidney(16)|large_intestine(77)|liver(1)|lung(99)|ovary(9)|pancreas(3)|prostate(13)|skin(7)|stomach(8)|upper_aerodigestive_tract(6)|urinary_tract(2) 301 BRCA - Breast invasive adenocarcinoma(221;0.219) ATGAAGGGCCCGGTCCAGATC 0.517000 28 10 0 0 0.000978159 0 0 COL4A4 1286 broad.mit.edu 37 2 227915767 227915767 + Missense_Mutation SNP G A A TCGA-EE-A2MQ-06A-11D-A197-08 TCGA-EE-A2MQ-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0853f3bd-b4a0-4c59-8370-60a5bd58ba85 860a8640-e651-4e9d-b4f0-d1dd589628ce g.chr2:227915767G>A uc021vxr.1 - 31 3177 c.3076C>T c.(3076-3078)Cct>Tct p.P1026S COL4A4_uc021vxs.1_Missense_Mutation_p.P1026S NM_000092 NP_000083 P53420 CO4A4_HUMAN Homo sapiens collagen, type IV, alpha 4 (COL4A4), mRNA. 1026 Triple-helical region. axon guidance|glomerular basement membrane development basal lamina|collagen type IV extracellular matrix structural constituent|protein binding breast(2)|central_nervous_system(3)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(15)|lung(35)|ovary(5)|pancreas(3)|prostate(2)|skin(12)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(3) 98 Renal(207;0.00844)|all_lung(227;0.0187)|Lung NSC(271;0.0879)|all_hematologic(139;0.21)|Esophageal squamous(248;0.242) Epithelial(121;6.7e-11)|all cancers(144;5.39e-08)|Lung(261;0.0132)|LUSC - Lung squamous cell carcinoma(224;0.0181) GGGGGTCCAGGAGGCCCTGGC 0.587000 52 35 0 0 0.00128727 0 0 MAGEC1 9947 broad.mit.edu 37 X 140993562 140993562 + Silent SNP C T T TCGA-EE-A2MQ-06A-11D-A197-08 TCGA-EE-A2MQ-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0853f3bd-b4a0-4c59-8370-60a5bd58ba85 860a8640-e651-4e9d-b4f0-d1dd589628ce g.chrX:140993562C>T uc004fbt.3 + 3 696 c.372C>T c.(370-372)gtC>gtT p.V124V MAGEC1_uc010nsl.2_Intron|MAGEC1_uc022cfi.1_5'Flank NM_005462 NP_005453 O60732 MAGC1_HUMAN Homo sapiens melanoma antigen family C, 1 (MAGEC1), mRNA. 124 protein binding breast(3)|central_nervous_system(1)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(8)|large_intestine(22)|lung(60)|ovary(1)|pancreas(1)|prostate(1)|skin(7)|stomach(5)|upper_aerodigestive_tract(7)|urinary_tract(1) 127 Acute lymphoblastic leukemia(192;6.56e-05) GTGAGGATGTCCAGTCTCCTC 0.502000 HNSCC(15;0.026) 63 31 0 0 0.001512 0 0 CLEC3B 7123 broad.mit.edu 37 3 45067941 45067941 + Silent SNP G A A TCGA-EE-A2MQ-06A-11D-A197-08 TCGA-EE-A2MQ-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0853f3bd-b4a0-4c59-8370-60a5bd58ba85 860a8640-e651-4e9d-b4f0-d1dd589628ce g.chr3:45067941G>A uc003cok.4 + 0 183 c.87G>A c.(85-87)aaG>aaA p.K29K NM_003278 NP_003269 P05452 TETN_HUMAN Homo sapiens C-type lectin domain family 3, member B (CLEC3B), mRNA. 29 skeletal system development extracellular space protein binding|sugar binding endometrium(1)|lung(3) 4 BRCA - Breast invasive adenocarcinoma(193;0.00863)|KIRC - Kidney renal clear cell carcinoma(197;0.0475)|Kidney(197;0.0595) Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Tenecteplase(DB00031) AGAAGCCCAAGAAGATTGTAA 0.602000 13 15 0 0 0.00074312 0 0 IGSF3 3321 broad.mit.edu 37 1 117146637 117146637 + Silent SNP G A A TCGA-EE-A2MQ-06A-11D-A197-08 TCGA-EE-A2MQ-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0853f3bd-b4a0-4c59-8370-60a5bd58ba85 860a8640-e651-4e9d-b4f0-d1dd589628ce g.chr1:117146637G>A uc001egq.1 - 6 1998 c.1293C>T c.(1291-1293)atC>atT p.I431I IGSF3_uc001egr.1_Silent_p.I411I|IGSF3_uc001egs.1_Silent_p.I84I NM_001542 NP_001533 O75054 IGSF3_HUMAN Homo sapiens immunoglobulin superfamily, member 3 (IGSF3), transcript variant 1, mRNA. 411 Ig-like C2-type 4. integral to membrane NS(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|liver(1)|lung(31)|ovary(4)|prostate(1)|skin(4)|upper_aerodigestive_tract(2) 62 Lung SC(450;0.225) all_cancers(81;1.24e-06)|all_epithelial(167;4.85e-07)|all_lung(203;1.66e-06)|Lung NSC(69;1.11e-05) Lung(183;0.0142)|Colorectal(144;0.0929)|LUSC - Lung squamous cell carcinoma(189;0.108)|COAD - Colon adenocarcinoma(174;0.139)|all cancers(265;0.159)|Epithelial(280;0.166) CCTCCACGGAGATGCTGCTCT 0.617000 12 6 0 0 0.00116845 0 0 SNORD113-7 767567 broad.mit.edu 37 14 101407515 101407515 + RNA SNP C T T TCGA-EE-A2MQ-06A-11D-A197-08 TCGA-EE-A2MQ-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0853f3bd-b4a0-4c59-8370-60a5bd58ba85 860a8640-e651-4e9d-b4f0-d1dd589628ce g.chr14:101407515C>T uc001yio.3 + 0 c.53C>T Homo sapiens small nucleolar RNA, C/D box 113-7 (SNORD113-7), small nucleolar RNA. TCTGATTATACCCTGTCTGTA 0.363000 24 83 0 0 0.000781405 0 0 CRB1 23418 broad.mit.edu 37 1 197390978 197390978 + Missense_Mutation SNP G A A TCGA-EE-A2MQ-06A-11D-A197-08 TCGA-EE-A2MQ-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0853f3bd-b4a0-4c59-8370-60a5bd58ba85 860a8640-e651-4e9d-b4f0-d1dd589628ce g.chr1:197390978G>A uc001gtz.3 + 5 2229 c.2020G>A c.(2020-2022)Gat>Aat p.D674N CRB1_uc010poz.2_Missense_Mutation_p.D605N|CRB1_uc009wza.3_Missense_Mutation_p.D562N|CRB1_uc010ppa.2_Non-coding_Transcript|CRB1_uc010ppb.2_Missense_Mutation_p.D674N|CRB1_uc010ppc.1_Non-coding_Transcript|CRB1_uc010ppd.2_Missense_Mutation_p.D155N|CRB1_uc001gub.1_Missense_Mutation_p.D323N NM_201253 NP_957705 P82279 CRUM1_HUMAN Homo sapiens crumbs homolog 1 (Drosophila) (CRB1), transcript variant 1, mRNA. 674 EGF-like 12. cell-cell signaling|establishment or maintenance of cell polarity apical plasma membrane|extracellular region|integral to membrane calcium ion binding|protein binding NS(1)|breast(4)|central_nervous_system(2)|cervix(3)|endometrium(13)|kidney(4)|large_intestine(21)|lung(58)|ovary(7)|prostate(3)|skin(10)|upper_aerodigestive_tract(4)|urinary_tract(2) 132 TGTGAGAAAGGATTGGTGTGA 0.483000 13 45 0 0 0.000781405 0 0 FAM71F1 84691 broad.mit.edu 37 7 128370028 128370028 + Missense_Mutation SNP G A A TCGA-EE-A2MQ-06A-11D-A197-08 TCGA-EE-A2MQ-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0853f3bd-b4a0-4c59-8370-60a5bd58ba85 860a8640-e651-4e9d-b4f0-d1dd589628ce g.chr7:128370028G>A uc003vno.1 + 5 979 c.926G>A c.(925-927)gGa>gAa p.G309E FAM71F1_uc003vnm.1_Non-coding_Transcript|FAM71F1_uc003vnn.1_Missense_Mutation_p.G208E|FAM71F1_uc003vnp.1_Missense_Mutation_p.G307E NM_032599 NP_115988 Q96KD3 F71F1_HUMAN Homo sapiens family with sequence similarity 71, member F1 (FAM71F1), mRNA. 309 NS(1)|breast(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(6)|prostate(1)|skin(2)|upper_aerodigestive_tract(1) 18 TTCACGTACGGAGAGTGGGAA 0.557000 97 30 0 0 0.00106085 0 0 OR2W3 343171 broad.mit.edu 37 1 248059574 248059574 + Missense_Mutation SNP G T T TCGA-EE-A2MQ-06A-11D-A197-08 TCGA-EE-A2MQ-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0853f3bd-b4a0-4c59-8370-60a5bd58ba85 860a8640-e651-4e9d-b4f0-d1dd589628ce g.chr1:248059574G>T uc010pzb.2 + 0 686 c.686G>T c.(685-687)cGg>cTg p.R229L OR2W3_uc001idp.1_Missense_Mutation_p.R229L NM_001001957 NP_001001957 Q7Z3T1 OR2W3_HUMAN Homo sapiens olfactory receptor, family 2, subfamily W, member 3 (OR2W3), mRNA. 229 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity p.R229W(1) breast(1)|kidney(2)|large_intestine(2)|lung(33)|ovary(1)|pancreas(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(3) 49 all_cancers(71;0.000139)|all_epithelial(71;1.58e-05)|Breast(184;0.0117)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136) OV - Ovarian serous cystadenocarcinoma(106;0.0319) TTACAAATTCGGTCAGCATCA 0.527000 88 36 3.21399e-22 2.89531e-21 0.000953801 1 0 ESPNP 284729 broad.mit.edu 37 1 17034125 17034126 + Frame_Shift_Ins INS - AGCT AGCT rs141324796 by1000genomes TCGA-EE-A2MQ-06A-11D-A197-08 TCGA-EE-A2MQ-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0853f3bd-b4a0-4c59-8370-60a5bd58ba85 860a8640-e651-4e9d-b4f0-d1dd589628ce g.chr1:17034125_17034126insAGCT uc001azn.1 - 2 478_479 c.364_365insAGCT c.(364-366)tggfs p.W122fs ESPNP_uc010ocj.1_Frame_Shift_Ins_p.W52fs Homo sapiens espin pseudogene (ESPNP), non-coding RNA. CAGCAGCAGCCAGCTGAGCACC 0.718 --- 5 --- --- 5 --- TMEM200B 399474 broad.mit.edu 37 1 29448162 29448162 + Frame_Shift_Del DEL G - - TCGA-EE-A2MQ-06A-11D-A197-08 TCGA-EE-A2MQ-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0853f3bd-b4a0-4c59-8370-60a5bd58ba85 860a8640-e651-4e9d-b4f0-d1dd589628ce g.chr1:29448162delG uc021oki.1 - 0 179 c.179delC c.(178-180)gcgfs p.A60fs TMEM200B_uc021okh.1_Frame_Shift_Del_p.A60fs|TMEM200B_uc001brn.2_Frame_Shift_Del_p.A60fs NM_001171868 NP_001165339 Q69YZ2 T200B_HUMAN Homo sapiens transmembrane protein 200B (TMEM200B), transcript variant 1, mRNA. 60 integral to membrane ovary(1) 1 Colorectal(325;3.46e-05)|Breast(348;0.00765)|Lung NSC(340;0.0153)|all_lung(284;0.0173)|all_neural(195;0.0199)|Ovarian(437;0.0228)|Myeloproliferative disorder(586;0.0255)|Medulloblastoma(700;0.123) Colorectal(126;7.32e-08)|COAD - Colon adenocarcinoma(152;4.92e-06)|STAD - Stomach adenocarcinoma(196;0.00618)|BRCA - Breast invasive adenocarcinoma(304;0.0501)|READ - Rectum adenocarcinoma(331;0.0649)|KIRC - Kidney renal clear cell carcinoma(1967;0.126) TACCACGAGCGCCCCCAGCGC 0.806 --- 4 --- --- 2 --- CCDC28B 79140 broad.mit.edu 37 1 32670247 32670248 + Frame_Shift_Del DEL TG - - TCGA-EE-A2MQ-06A-11D-A197-08 TCGA-EE-A2MQ-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0853f3bd-b4a0-4c59-8370-60a5bd58ba85 860a8640-e651-4e9d-b4f0-d1dd589628ce g.chr1:32670247_32670248delTG uc021okt.1 + 4 706_707 c.574_575delTG c.(574-576)tgtfs p.C192fs CCDC28B_uc001bul.1_Intron|IQCC_uc001bum.2_5'Flank|IQCC_uc009vua.2_5'Flank|IQCC_uc010ogz.1_5'Flank NM_024296 NP_077272 Q9BUN5 CC28B_HUMAN Homo sapiens coiled-coil domain containing 28B (CCDC28B), mRNA. 0 p.A192V(1) large_intestine(4)|lung(3)|ovary(1)|upper_aerodigestive_tract(2) 10 Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0837)|Ovarian(437;0.101)|Breast(348;0.174) AACCCGTCTATGTGTGTGTGTT 0.500 --- 277 --- --- 8 --- CLCC1 23155 broad.mit.edu 37 1 109477407 109477407 + Frame_Shift_Del DEL T - - rs150759040 by1000genomes TCGA-EE-A2MQ-06A-11D-A197-08 TCGA-EE-A2MQ-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0853f3bd-b4a0-4c59-8370-60a5bd58ba85 860a8640-e651-4e9d-b4f0-d1dd589628ce g.chr1:109477407delT uc021ora.1 - 9 1552 c.1541delA c.(1540-1542)aagfs p.K514fs AKNAD1_uc010ovb.2_Intron|CLCC1_uc001dwg.1_Frame_Shift_Del_p.K464fs|CLCC1_uc001dwf.1_Frame_Shift_Del_p.K514fs|CLCC1_uc009wes.1_Frame_Shift_Del_p.K393fs|CLCC1_uc009wet.1_Frame_Shift_Del_p.K329fs NM_001048210 NP_001041675 Q96S66 CLCC1_HUMAN Homo sapiens chloride channel CLIC-like 1 (CLCC1), transcript variant 1, mRNA. 514 Golgi apparatus|endoplasmic reticulum|integral to membrane|nucleus autonomic_ganglia(1)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(7)|liver(1)|skin(1) 14 all_epithelial(167;0.000114)|all_lung(203;0.000321)|Lung NSC(277;0.000626) Colorectal(144;0.0314)|Lung(183;0.0924)|COAD - Colon adenocarcinoma(174;0.119)|Epithelial(280;0.231) GAGCTGGGCCTTTTCCGCTGC 0.597 --- 753 --- --- 7 --- CTSE 1510 broad.mit.edu 37 1 206325342 206325342 + Frame_Shift_Del DEL C - - TCGA-EE-A2MQ-06A-11D-A197-08 TCGA-EE-A2MQ-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0853f3bd-b4a0-4c59-8370-60a5bd58ba85 860a8640-e651-4e9d-b4f0-d1dd589628ce g.chr1:206325342delC uc001hdu.3 + 4 685 c.567delC c.(565-567)tacfs p.Y189fs CTSE_uc001hdv.3_Frame_Shift_Del_p.Y189fs|CTSE_uc010prs.2_Frame_Shift_Del_p.Y114fs NM_001910 NP_001901 P14091 CATE_HUMAN Homo sapiens cathepsin E (CTSE), transcript variant 1, mRNA. 194 antigen processing and presentation of exogenous peptide antigen via MHC class II|digestion|proteolysis endosome aspartic-type endopeptidase activity endometrium(2)|large_intestine(3)|lung(5)|ovary(2)|prostate(1)|skin(3) 16 BRCA - Breast invasive adenocarcinoma(75;0.0754) GCCTGGGATACCCCTCCTTGG 0.517 --- 45 --- --- 50 --- ZDHHC4 55146 broad.mit.edu 37 7 6621848 6621849 + Frame_Shift_Ins INS - T T rs34551853 TCGA-EE-A2MQ-06A-11D-A197-08 TCGA-EE-A2MQ-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0853f3bd-b4a0-4c59-8370-60a5bd58ba85 860a8640-e651-4e9d-b4f0-d1dd589628ce g.chr7:6621848_6621849insT uc003sqi.3 + 5 694_695 c.336_337insT c.(334-339)ctgtttfs p.L112fs ZDHHC4_uc003sql.3_Frame_Shift_Ins_p.L112fs|ZDHHC4_uc003sqj.3_Frame_Shift_Ins_p.L112fs|ZDHHC4_uc003sqh.3_Frame_Shift_Ins_p.L112fs NM_001134388 NP_060576 Q9NPG8 ZDHC4_HUMAN Homo sapiens zinc finger, DHHC-type containing 4 (ZDHHC4), transcript variant 2, mRNA. 112 integral to membrane acyltransferase activity|zinc ion binding p.F115fs*3(2) breast(2)|endometrium(2)|kidney(1)|large_intestine(3)|lung(5)|ovary(1)|pancreas(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1) 19 Ovarian(82;0.232) UCEC - Uterine corpus endometrioid carcinoma (126;0.1) GTGTAAACCTGTTTTTTTTCAC 0.450 --- 350 --- --- 8 --- GNB2 2783 broad.mit.edu 37 7 100274423 100274424 + Splice_Site DEL GT - - TCGA-EE-A2MQ-06A-11D-A197-08 TCGA-EE-A2MQ-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0853f3bd-b4a0-4c59-8370-60a5bd58ba85 860a8640-e651-4e9d-b4f0-d1dd589628ce g.chr7:100274423_100274424delGT uc003uwb.3 + 4 476 c.203_splice c.e4+1 p.R68_splice GNB2_uc003uwf.3_5'Flank NM_005273 NP_005264 P62879 GBB2_HUMAN Homo sapiens guanine nucleotide binding protein (G protein), beta polypeptide 2 (GNB2), mRNA. 68 G-protein coupled receptor protein signaling pathway|cellular response to glucagon stimulus|energy reserve metabolic process|synaptic transmission perinuclear region of cytoplasm|plasma membrane GTPase activity|GTPase binding|signal transducer activity endometrium(1)|lung(3)|ovary(2)|prostate(1) 7 Lung NSC(181;0.035)|all_lung(186;0.0509)|Esophageal squamous(72;0.0817) Ovarian(593;0.238) CCGACTCAAGGTGTGTGTGTGT 0.634 --- 4 --- --- 2 --- BHLHE22 27319 broad.mit.edu 37 8 65493617 65493618 + In_Frame_Ins INS - GGC GGC TCGA-EE-A2MQ-06A-11D-A197-08 TCGA-EE-A2MQ-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0853f3bd-b4a0-4c59-8370-60a5bd58ba85 860a8640-e651-4e9d-b4f0-d1dd589628ce g.chr8:65493617_65493618insGGC uc003xvi.3 + 0 823_824 c.270_271insGGC c.(268-273)insGGC p.97_98insG LOC401463_uc003xvh.3_Intron NM_152414 NP_689627 Q8NFJ8 BHE22_HUMAN Homo sapiens basic helix-loop-helix family, member e22 (BHLHE22), mRNA. 97 Gly-rich. regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus NS(1)|central_nervous_system(1)|lung(1)|prostate(1)|skin(1) 5 gcgcgggaagtggcggcggcgg 0.782 --- 4 --- --- 2 --- BBS10 79738 broad.mit.edu 37 12 76740943 76740944 + Frame_Shift_Del DEL CT - - TCGA-EE-A2MQ-06A-11D-A197-08 TCGA-EE-A2MQ-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0853f3bd-b4a0-4c59-8370-60a5bd58ba85 860a8640-e651-4e9d-b4f0-d1dd589628ce g.chr12:76740943_76740944delCT uc001syd.1 - 1 905_906 c.821_822delAG c.(820-822)gagfs p.E274fs NM_024685 NP_078961 Q8TAM1 BBS10_HUMAN Homo sapiens Bardet-Biedl syndrome 10 (BBS10), mRNA. 274 cellular protein metabolic process|nonmotile primary cilium assembly|photoreceptor cell maintenance|response to stimulus|retina homeostasis cilium ATP binding endometrium(2)|kidney(2)|large_intestine(4)|lung(8)|ovary(1)|prostate(1)|skin(1) 19 TTAGAATAAACTCTGATCCAGA 0.361 Bardet-Biedl syndrome --- 32 --- --- 10 --- PAFAH1B3 5050 broad.mit.edu 37 19 42801471 42801473 + In_Frame_Del DEL TTC - - TCGA-EE-A2MQ-06A-11D-A197-08 TCGA-EE-A2MQ-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0853f3bd-b4a0-4c59-8370-60a5bd58ba85 860a8640-e651-4e9d-b4f0-d1dd589628ce g.chr19:42801471_42801473delTTC uc002otg.2 - 4 788_790 c.453_455delGAA c.(451-456)aagaac>aac p.K151del PAFAH1B3_uc010xwi.1_In_Frame_Del_p.K151del|PAFAH1B3_uc010xwj.1_In_Frame_Del_p.K151del NM_002573 NP_002564 Q15102 PA1B3_HUMAN Homo sapiens platelet-activating factor acetylhydrolase 1b, catalytic subunit 3 (29kDa) (PAFAH1B3), transcript variant 2, mRNA. 151 lipid catabolic process|nervous system development cytoplasm 1-alkyl-2-acetylglycerophosphocholine esterase activity|protein binding breast(1)|large_intestine(2)|ovary(1) 4 Prostate(69;0.0704) CACCTGTCGGTTCTTCTCCCGAA 0.586 --- 59 --- --- 46 ---