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 t_alt_count t_ref_count validation_alt_allele validation_method validation_status validation_tumor_sample pox qox pox_cutoff isArtifactMode oxoGCut ARHGEF10 9639 broad.mit.edu 37 8 1872040 1872040 + Splice_Site SNP G G A TCGA-S5-AA26-01A-11D-A38G-08 TCGA-S5-AA26-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0edef79b-466e-4362-af00-3961ea0d904c ae0ccd07-e2c8-42b5-b900-2ecfda4104d2 g.chr8:1872040G>A ENST00000518288.1 + 22 2723 c.2560G>A c.(2560-2562)Gaa>Aaa p.E854K ARHGEF10_ENST00000398564.1_Splice_Site_p.E855K|ARHGEF10_ENST00000520359.1_Splice_Site_p.E792K|ARHGEF10_ENST00000349830.3_Splice_Site_p.E830K|ARHGEF10_ENST00000262112.6_Splice_Site_p.E855K O15013 ARHGA_HUMAN Rho guanine nucleotide exchange factor (GEF) 10 855 centrosome duplication|myelination in peripheral nervous system|positive regulation of GTP catabolic process|positive regulation of stress fiber assembly|regulation of Rho protein signal transduction|spindle assembly involved in mitosis centrosome|cytosol|soluble fraction kinesin binding|Rho guanyl-nucleotide exchange factor activity endometrium(3)|large_intestine(11)|lung(11)|prostate(3)|skin(3)|stomach(3)|urinary_tract(1) 35 Colorectal(14;3.46e-05)|Renal(68;0.000518)|Ovarian(12;0.00409)|Myeloproliferative disorder(644;0.0255)|Hepatocellular(245;0.0834) COAD - Colon adenocarcinoma(149;1.62e-05)|BRCA - Breast invasive adenocarcinoma(11;1.68e-05)|KIRC - Kidney renal clear cell carcinoma(542;0.00361)|READ - Rectum adenocarcinoma(644;0.0718) GCTCGCCCTAGGTAAGGCCTG 0.557000 38 35 0 0 1 0 0 CACNA1G 8913 broad.mit.edu 37 17 48685346 48685346 + Missense_Mutation SNP G G C TCGA-S5-AA26-01A-11D-A38G-08 TCGA-S5-AA26-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0edef79b-466e-4362-af00-3961ea0d904c ae0ccd07-e2c8-42b5-b900-2ecfda4104d2 g.chr17:48685346G>C ENST00000352832.5 + 24 4974 c.4602G>C c.(4600-4602)gaG>gaC p.E1534D CACNA1G_ENST00000513689.2_Missense_Mutation_p.E1523D|CACNA1G_ENST00000515165.1_Missense_Mutation_p.E1557D|CACNA1G_ENST00000507336.1_Missense_Mutation_p.E1557D|CACNA1G_ENST00000429973.2_Missense_Mutation_p.E1557D|CACNA1G_ENST00000510115.1_Missense_Mutation_p.E1534D|CACNA1G_ENST00000515765.1_Missense_Mutation_p.E1557D|CACNA1G_ENST00000360761.4_Missense_Mutation_p.E1534D|CACNA1G_ENST00000507896.1_Missense_Mutation_p.E1557D|CACNA1G_ENST00000354983.4_Missense_Mutation_p.E1534D|CACNA1G_ENST00000515411.1_Missense_Mutation_p.E1557D|CACNA1G_ENST00000514717.1_Missense_Mutation_p.E1500D|CACNA1G_ENST00000512389.1_Missense_Mutation_p.E1557D|CACNA1G_ENST00000359106.5_Missense_Mutation_p.E1557D|CACNA1G_ENST00000503485.1_Missense_Mutation_p.E1523D|CACNA1G_ENST00000502264.1_Missense_Mutation_p.E1534D|CACNA1G_ENST00000510366.1_Missense_Mutation_p.E1523D|CACNA1G_ENST00000507510.2_Missense_Mutation_p.E1557D|CACNA1G_ENST00000358244.5_Missense_Mutation_p.E1534D|CACNA1G_ENST00000442258.2_Missense_Mutation_p.E1534D|CACNA1G_ENST00000513964.1_Missense_Mutation_p.E1523D|CACNA1G_ENST00000514181.1_Missense_Mutation_p.E1557D|CACNA1G_ENST00000514079.1_Missense_Mutation_p.E1557D|CACNA1G_ENST00000505165.1_Missense_Mutation_p.E1557D|CACNA1G_ENST00000507609.1_Missense_Mutation_p.E1557D NM_001256334.1|NM_198376.2|NM_198379.2|NM_198387.2|NM_198388.2 NP_001243263.1|NP_938190.1|NP_938193.1|NP_938201.1|NP_938202.1 O43497 CAC1G_HUMAN calcium channel, voltage-dependent, T type, alpha 1G subunit 1557 axon guidance voltage-gated calcium channel complex low voltage-gated calcium channel activity breast(5)|cervix(1)|endometrium(13)|kidney(5)|lung(23) 47 Breast(11;6.7e-17) BRCA - Breast invasive adenocarcinoma(22;7.52e-09) Ethosuximide(DB00593)|Flunarizine(DB04841)|Levetiracetam(DB01202)|Mibefradil(DB01388)|Pimozide(DB01100)|Trimethadione(DB00347)|Verapamil(DB00661)|Zonisamide(DB00909) GGCGGGAGGAGAAGCGCCTAC 0.567000 3 21 0 0 1 0 0 GAN 8139 broad.mit.edu 37 16 81390451 81390451 + Missense_Mutation SNP G G A TCGA-S5-AA26-01A-11D-A38G-08 TCGA-S5-AA26-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0edef79b-466e-4362-af00-3961ea0d904c ae0ccd07-e2c8-42b5-b900-2ecfda4104d2 g.chr16:81390451G>A ENST00000568107.2 + 4 857 c.695G>A c.(694-696)cGg>cAg p.R232Q NM_022041.3 NP_071324.1 Q9H2C0 GAN_HUMAN gigaxonin BACK. cell death cytoplasm|neurofilament protein binding central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(8)|lung(12)|ovary(2) 25 Colorectal(91;0.153) AGTTATTTACGGGAACAGATG 0.493000 50 51 0 0 1 0 0 NUTM1 256646 broad.mit.edu 37 15 34649187 34649187 + Missense_Mutation SNP C C T TCGA-S5-AA26-01A-11D-A38G-08 TCGA-S5-AA26-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0edef79b-466e-4362-af00-3961ea0d904c ae0ccd07-e2c8-42b5-b900-2ecfda4104d2 g.chr15:34649187C>T ENST00000537011.1 + 8 3360 c.2978C>T c.(2977-2979)tCt>tTt p.S993F NUTM1_ENST00000438749.3_Missense_Mutation_p.S983F|NUTM1_ENST00000333756.4_Missense_Mutation_p.S965F NM_001284292.1 NP_001271221.1 NUT midline carcinoma, family member 1 AAAGCAACATCTTCTCACCAG 0.493000 21 29 0 0 1 0 0 ALKBH1 8846 broad.mit.edu 37 14 78174278 78174278 + Silent SNP G G T TCGA-S5-AA26-01A-11D-A38G-08 TCGA-S5-AA26-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0edef79b-466e-4362-af00-3961ea0d904c ae0ccd07-e2c8-42b5-b900-2ecfda4104d2 g.chr14:78174278G>T ENST00000216489.3 - 1 85 c.70C>A c.(70-72)Cgg>Agg p.R24R NM_006020.2 NP_006011.2 Q13686 ALKB1_HUMAN alkB, alkylation repair homolog 1 (E. coli) 24 DNA dealkylation involved in DNA repair|DNA demethylation|oxidative demethylation|RNA repair mitochondrion DNA-(apurinic or apyrimidinic site) lyase activity|ferrous iron binding|methylcytosine dioxygenase activity|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen endometrium(2)|lung(4)|ovary(1)|prostate(1)|skin(1) 9 Kidney(204;0.164) BRCA - Breast invasive adenocarcinoma(234;0.0291) AAAAGTTTCCGAAAGGCGTCC 0.667000 29 36 7.01153e-11 7.34123e-11 1 1 0 WDR17 116966 broad.mit.edu 37 4 177093648 177093648 + Missense_Mutation SNP T T G TCGA-S5-AA26-01A-11D-A38G-08 TCGA-S5-AA26-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0edef79b-466e-4362-af00-3961ea0d904c ae0ccd07-e2c8-42b5-b900-2ecfda4104d2 g.chr4:177093648T>G ENST00000393643.2 + 25 3522 c.3270T>G c.(3268-3270)atT>atG p.I1090M WDR17_ENST00000508596.1_Missense_Mutation_p.I1075M|WDR17_ENST00000507824.2_Missense_Mutation_p.I1089M|WDR17_ENST00000280190.4_Missense_Mutation_p.I1114M NM_170710.4 NP_733828.2 Q8IZU2 WDR17_HUMAN WD repeat domain 17 1114 breast(2)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(18)|lung(46)|ovary(2)|pancreas(1)|prostate(3)|skin(5)|stomach(1)|upper_aerodigestive_tract(6)|urinary_tract(1) 92 Breast(14;0.00015)|Melanoma(52;0.00886)|Prostate(90;0.00996)|Renal(120;0.0183)|all_hematologic(60;0.107)|all_neural(102;0.164) all cancers(43;2.21e-20)|Epithelial(43;9.71e-18)|OV - Ovarian serous cystadenocarcinoma(60;2.38e-09)|GBM - Glioblastoma multiforme(59;0.000295)|STAD - Stomach adenocarcinoma(60;0.000703)|LUSC - Lung squamous cell carcinoma(193;0.0232) CCCTTCCTATTGGTATTAGCT 0.303000 40 43 0 0 1 0 0 ASXL2 55252 broad.mit.edu 37 2 25978949 25978949 + Nonsense_Mutation SNP G G C TCGA-S5-AA26-01A-11D-A38G-08 TCGA-S5-AA26-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0edef79b-466e-4362-af00-3961ea0d904c ae0ccd07-e2c8-42b5-b900-2ecfda4104d2 g.chr2:25978949G>C ENST00000435504.4 - 10 1267 c.974C>G c.(973-975)tCa>tGa p.S325* ASXL2_ENST00000336112.4_Nonsense_Mutation_p.S297*|ASXL2_ENST00000272341.4_Nonsense_Mutation_p.S65*|ASXL2_ENST00000404843.1_Nonsense_Mutation_p.S65* Q76L83 ASXL2_HUMAN additional sex combs like 2 (Drosophila) 325 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus metal ion binding|protein binding NS(1)|breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(4)|lung(7)|pancreas(1)|prostate(4)|skin(3)|urinary_tract(3) 33 Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215) GTTAAGGGCTGAGCCATTTAA 0.438000 4 48 0 0 1 0 0 PAPPA2 60676 broad.mit.edu 37 1 176740227 176740227 + Silent SNP C C G TCGA-S5-AA26-01A-11D-A38G-08 TCGA-S5-AA26-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0edef79b-466e-4362-af00-3961ea0d904c ae0ccd07-e2c8-42b5-b900-2ecfda4104d2 g.chr1:176740227C>G ENST00000367662.3 + 17 5790 c.4626C>G c.(4624-4626)ctC>ctG p.L1542L NM_020318.2 NP_064714.2 Q9BXP8 PAPP2_HUMAN pappalysin 2 1542 Sushi 3. cell differentiation|proteolysis|regulation of cell growth extracellular region|intracellular|membrane metalloendopeptidase activity|zinc ion binding NS(3)|breast(3)|central_nervous_system(7)|cervix(5)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(19)|lung(136)|ovary(7)|pancreas(1)|prostate(4)|skin(10)|upper_aerodigestive_tract(8)|urinary_tract(1) 226 CTCACTGCCTCCAGGACAACC 0.488000 14 83 0 0 1 0 0 AP4B1 10717 broad.mit.edu 37 1 114438528 114438528 + Missense_Mutation SNP G G A rs149723440 TCGA-S5-AA26-01A-11D-A38G-08 TCGA-S5-AA26-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0edef79b-466e-4362-af00-3961ea0d904c ae0ccd07-e2c8-42b5-b900-2ecfda4104d2 g.chr1:114438528G>A ENST00000369569.1 - 9 1923 c.1643C>T c.(1642-1644)cCg>cTg p.P548L AP4B1_ENST00000256658.4_Missense_Mutation_p.P548L|AP4B1_ENST00000369567.1_Missense_Mutation_p.P380L|AP4B1-AS1_ENST00000419536.1_RNA|AP4B1_ENST00000462591.1_5'UTR NM_001253852.1 NP_001240781.1 Q9Y6B7 AP4B1_HUMAN adaptor-related protein complex 4, beta 1 subunit 548 intracellular protein transport|vesicle-mediated transport clathrin adaptor complex|soluble fraction|trans-Golgi network protein binding|protein transporter activity breast(2)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(2)|lung(9)|ovary(3)|prostate(3) 25 Lung SC(450;0.184) all_cancers(81;4.5e-08)|all_epithelial(167;1.1e-07)|all_lung(203;1.53e-05)|Lung NSC(69;2.76e-05) Lung(183;0.0234)|Colorectal(144;0.0686)|all cancers(265;0.0792)|Epithelial(280;0.0866)|COAD - Colon adenocarcinoma(174;0.111)|LUSC - Lung squamous cell carcinoma(189;0.133) TCTTTCTGCCGGATCCTCCAA 0.498000 25 36 0 0 1 0 0 TMOD1 7111 broad.mit.edu 37 9 100308621 100308621 + Missense_Mutation SNP G G C TCGA-S5-AA26-01A-11D-A38G-08 TCGA-S5-AA26-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0edef79b-466e-4362-af00-3961ea0d904c ae0ccd07-e2c8-42b5-b900-2ecfda4104d2 g.chr9:100308621G>C ENST00000259365.4 + 3 488 c.275G>C c.(274-276)cGa>cCa p.R92P TMOD1_ENST00000395211.2_Missense_Mutation_p.R92P NM_003275.3 NP_003266.1 P28289 TMOD1_HUMAN tropomodulin 1 Tropomyosin-binding (Potential). muscle filament sliding cytosol actin binding breast(1)|central_nervous_system(1)|kidney(3)|large_intestine(3)|lung(2)|urinary_tract(1) 11 Acute lymphoblastic leukemia(62;0.154) STAD - Stomach adenocarcinoma(157;0.105) GGGGAAAAACGAGGTACTGAA 0.507000 26 2 0 0 1 0 0 WDR81 124997 broad.mit.edu 37 17 1633731 1633731 + Missense_Mutation SNP C C G TCGA-S5-AA26-01A-11D-A38G-08 TCGA-S5-AA26-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0edef79b-466e-4362-af00-3961ea0d904c ae0ccd07-e2c8-42b5-b900-2ecfda4104d2 g.chr17:1633731C>G ENST00000409644.1 + 2 3725 c.3725C>G c.(3724-3726)tCt>tGt p.S1242C WDR81_ENST00000309182.5_Missense_Mutation_p.S191C|WDR81_ENST00000446363.1_Intron|WDR81_ENST00000419248.1_Missense_Mutation_p.S15C|RP11-961A15.1_ENST00000576540.1_RNA|WDR81_ENST00000437219.2_Missense_Mutation_p.S39C NM_001163809.1 NP_001157281.1 B3KXU1 B3KXU1_HUMAN WD repeat domain 81 15 cervix(1)|endometrium(1)|kidney(3)|lung(6)|ovary(2)|prostate(2)|skin(1) 16 UCEC - Uterine corpus endometrioid carcinoma (25;0.0822) ACAGTGGCCTCTCGCCACGTG 0.637000 10 23 0 0 1 0 0 MAP3K11 4296 broad.mit.edu 37 11 65380813 65380813 + Missense_Mutation SNP C C T TCGA-S5-AA26-01A-11D-A38G-08 TCGA-S5-AA26-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0edef79b-466e-4362-af00-3961ea0d904c ae0ccd07-e2c8-42b5-b900-2ecfda4104d2 g.chr11:65380813C>T ENST00000309100.3 - 1 900 c.415G>A c.(415-417)Gag>Aag p.E139K NM_002419.3 NP_002410.1 Q16584 M3K11_HUMAN mitogen-activated protein kinase kinase kinase 11 139 Protein kinase. activation of JUN kinase activity|cell proliferation|G1 phase of mitotic cell cycle|microtubule-based process|positive regulation of JNK cascade|protein autophosphorylation centrosome|microtubule ATP binding|JUN kinase kinase kinase activity|mitogen-activated protein kinase kinase kinase binding|protein homodimerization activity breast(3)|central_nervous_system(1)|kidney(1)|large_intestine(4)|lung(14)|skin(1) 24 GCCACCAGCTCACCTCGCCAG 0.672000 32 30 0 0 1 0 0 LAMA5 3911 broad.mit.edu 37 20 60907624 60907624 + Silent SNP G G A TCGA-S5-AA26-01A-11D-A38G-08 TCGA-S5-AA26-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0edef79b-466e-4362-af00-3961ea0d904c ae0ccd07-e2c8-42b5-b900-2ecfda4104d2 g.chr20:60907624G>A ENST00000252999.3 - 27 3498 c.3432C>T c.(3430-3432)ccC>ccT p.P1144P NM_005560.3 NP_005551.3 O15230 LAMA5_HUMAN laminin, alpha 5 1144 Domain IV 1 (domain IV B). 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) TGTACAGGCAGGGGTGCAGGG 0.716000 11 9 0 0 1 0 0 TAF3 83860 broad.mit.edu 37 10 8006054 8006054 + Missense_Mutation SNP G G A TCGA-S5-AA26-01A-11D-A38G-08 TCGA-S5-AA26-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0edef79b-466e-4362-af00-3961ea0d904c ae0ccd07-e2c8-42b5-b900-2ecfda4104d2 g.chr10:8006054G>A ENST00000344293.5 + 3 787 c.581G>A c.(580-582)cGg>cAg p.R194Q NM_031923.3 NP_114129.1 Q5VWG9 TAF3_HUMAN TAF3 RNA polymerase II, TATA box binding protein (TBP)-associated factor, 140kDa 194 maintenance of protein location in nucleus|negative regulation of sequence-specific DNA binding transcription factor activity|negative regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent transcription factor TFIID complex protein binding|zinc ion binding NS(2)|breast(4)|endometrium(2)|kidney(1)|large_intestine(6)|lung(16)|ovary(3)|prostate(4)|skin(2) 40 GCCATGAAGCGGCCTCGGCTA 0.453000 36 42 0 0 1 0 0 MFSD4 148808 broad.mit.edu 37 1 205555251 205555251 + Missense_Mutation SNP C C G TCGA-S5-AA26-01A-11D-A38G-08 TCGA-S5-AA26-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0edef79b-466e-4362-af00-3961ea0d904c ae0ccd07-e2c8-42b5-b900-2ecfda4104d2 g.chr1:205555251C>G ENST00000367147.4 + 6 1158 c.1065C>G c.(1063-1065)ttC>ttG p.F355L MFSD4_ENST00000539267.1_Missense_Mutation_p.F355L|MFSD4_ENST00000536357.1_Missense_Mutation_p.F268L NM_181644.4 NP_857595.3 Q8N468 MFSD4_HUMAN major facilitator superfamily domain containing 4 355 transmembrane transport integral to membrane central_nervous_system(1)|endometrium(2)|large_intestine(3)|lung(2)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1) 16 Breast(84;0.07) BRCA - Breast invasive adenocarcinoma(75;0.0908) CCAGCCTCTTCTGGGGCTTCA 0.562000 81 4 0 0 1 0 0 RTN4RL2 349667 broad.mit.edu 37 11 57235439 57235439 + Missense_Mutation SNP T T C TCGA-S5-AA26-01A-11D-A38G-08 TCGA-S5-AA26-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0edef79b-466e-4362-af00-3961ea0d904c ae0ccd07-e2c8-42b5-b900-2ecfda4104d2 g.chr11:57235439T>C ENST00000335099.3 + 2 706 c.389T>C c.(388-390)cTg>cCg p.L130P RTN4RL2_ENST00000533205.1_Missense_Mutation_p.L130P|RTN4RL2_ENST00000395120.2_Missense_Mutation_p.L130P NM_178570.1 NP_848665.1 Q86UN3 R4RL2_HUMAN reticulon 4 receptor-like 2 130 axon regeneration anchored to plasma membrane receptor activity NS(1)|endometrium(1)|large_intestine(2)|lung(2) 6 TTCCAGGGCCTGGAGCGGCTG 0.652000 13 56 0 0 1 0 0 FAM173B 134145 broad.mit.edu 37 5 10236713 10236713 + Silent SNP C C T TCGA-S5-AA26-01A-11D-A38G-08 TCGA-S5-AA26-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0edef79b-466e-4362-af00-3961ea0d904c ae0ccd07-e2c8-42b5-b900-2ecfda4104d2 g.chr5:10236713C>T ENST00000511437.1 - 3 333 c.321G>A c.(319-321)gcG>gcA p.A107A FAM173B_ENST00000280330.8_5'UTR|FAM173B_ENST00000510052.1_5'UTR|FAM173B_ENST00000510047.1_Silent_p.A107A NM_199133.3 NP_954584.2 Q6P4H8 F173B_HUMAN family with sequence similarity 173, member B 107 integral to membrane p.A107A(1) breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(6)|skin(1)|upper_aerodigestive_tract(1) 16 ACCCTTTCTTCGCAGCCGCTA 0.413000 26 33 0 0 1 0 0 ESPNP 284729 broad.mit.edu 37 1 17017734 17017734 + RNA SNP C C T rs12561805 by1000genomes TCGA-S5-AA26-01A-11D-A38G-08 TCGA-S5-AA26-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0edef79b-466e-4362-af00-3961ea0d904c ae0ccd07-e2c8-42b5-b900-2ecfda4104d2 g.chr1:17017734C>T ENST00000492551.1 - 0 1993 NR_026567.1 CAGCTTCTTCCGCAGGAGGTC 0.647000 7 19 0 0 1 0 0 NDC80 10403 broad.mit.edu 37 18 2578006 2578006 + Missense_Mutation SNP G G C TCGA-S5-AA26-01A-11D-A38G-08 TCGA-S5-AA26-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0edef79b-466e-4362-af00-3961ea0d904c ae0ccd07-e2c8-42b5-b900-2ecfda4104d2 g.chr18:2578006G>C ENST00000261597.4 + 5 524 c.342G>C c.(340-342)atG>atC p.M114I NM_006101.2 NP_006092.1 O14777 NDC80_HUMAN NDC80 kinetochore complex component 114 Interaction with the N-terminus of CDCA1.|Nuclear localization. attachment of spindle microtubules to kinetochore|cell division|establishment of mitotic spindle orientation|mitotic prometaphase|mitotic sister chromatid segregation|mitotic spindle organization|phosphatidylinositol-mediated signaling condensed nuclear chromosome outer kinetochore|cytosol|Ndc80 complex protein binding NS(1)|biliary_tract(2)|breast(1)|endometrium(1)|kidney(3)|large_intestine(2)|lung(6)|ovary(2)|prostate(2)|urinary_tract(2) 22 ATGTGTCCATGAAATCTCTAC 0.353000 48 59 0 0 1 0 0 CCDC36 339834 broad.mit.edu 37 3 49281838 49281838 + Splice_Site SNP G G C TCGA-S5-AA26-01A-11D-A38G-08 TCGA-S5-AA26-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0edef79b-466e-4362-af00-3961ea0d904c ae0ccd07-e2c8-42b5-b900-2ecfda4104d2 g.chr3:49281838G>C ENST00000438782.1 + 5 633 c.397G>C c.(397-399)Gag>Cag p.E133Q CCDC36_ENST00000366429.2_Intron|CCDC36_ENST00000451634.2_Intron|CCDC36_ENST00000296449.5_Splice_Site_p.E133Q|CCDC36_ENST00000452691.2_Splice_Site_p.E133Q Q8IYA8 CCD36_HUMAN coiled-coil domain containing 36 133 endometrium(1)|kidney(2)|large_intestine(3)|liver(1)|lung(3)|ovary(1)|urinary_tract(3) 14 BRCA - Breast invasive adenocarcinoma(193;9.11e-05)|Kidney(197;0.00248)|KIRC - Kidney renal clear cell carcinoma(197;0.00262) CTATTCTAGTGAGACTCTATA 0.299000 4 53 0 0 1 0 0 PAX3 5077 broad.mit.edu 37 2 223158459 223158459 + Missense_Mutation SNP C C T TCGA-S5-AA26-01A-11D-A38G-08 TCGA-S5-AA26-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0edef79b-466e-4362-af00-3961ea0d904c ae0ccd07-e2c8-42b5-b900-2ecfda4104d2 g.chr2:223158459C>T ENST00000258387.5 - 5 853 c.604G>A c.(604-606)Gga>Aga p.G202R PAX3_ENST00000344493.4_Intron|PAX3_ENST00000392069.2_Intron|PAX3_ENST00000409551.3_Intron|PAX3_ENST00000350526.4_Intron|PAX3_ENST00000336840.6_Intron|PAX3_ENST00000392070.2_Intron|PAX3_ENST00000409828.3_3'UTR NM_013942.4 NP_039230.1 P23760 PAX3_HUMAN paired box 3 0 apoptosis|organ morphogenesis|positive regulation of transcription from RNA polymerase II promoter|sensory perception of sound|transcription from RNA polymerase II promoter nucleus protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity PAX3/NCOA2(4)|PAX3/NCOA1(8)|PAX3/FOXO1(749) NS(1)|endometrium(3)|kidney(1)|large_intestine(12)|lung(13)|ovary(4)|pancreas(1)|skin(2)|upper_aerodigestive_tract(1) 38 Renal(207;0.0183) Epithelial(121;4.13e-10)|all cancers(144;1.85e-07)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942) GAGGAAACTCCGGAGACCAGG 0.493000 T """FOXO1A, NCOA1""" alveolar rhabdomyosarcoma Waardenburg syndrome; craniofacial-deafness-hand syndrome 116 5 0 0 1 0 0 RBM5 10181 broad.mit.edu 37 3 50151425 50151425 + Nonsense_Mutation SNP C C T TCGA-S5-AA26-01A-11D-A38G-08 TCGA-S5-AA26-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0edef79b-466e-4362-af00-3961ea0d904c ae0ccd07-e2c8-42b5-b900-2ecfda4104d2 g.chr3:50151425C>T ENST00000347869.3 + 19 1835 c.1660C>T c.(1660-1662)Cag>Tag p.Q554* NM_005778.3 NP_005769.1 P52756 RBM5_HUMAN RNA binding motif protein 5 554 Required for interaction with U2AF2. apoptosis|negative regulation of cell proliferation|positive regulation of apoptosis|regulation of alternative nuclear mRNA splicing, via spliceosome|spliceosome assembly nucleoplasm|spliceosomal complex DNA binding|mRNA binding|nucleotide binding|protein binding|zinc ion binding breast(2)|cervix(2)|endometrium(3)|large_intestine(4)|lung(6)|prostate(2) 19 BRCA - Breast invasive adenocarcinoma(193;0.000121)|KIRC - Kidney renal clear cell carcinoma(197;0.00558)|Kidney(197;0.00632) TTTGAATAAGCAGAAAGAAAA 0.398000 24 24 0 0 1 0 0 NARS 4677 broad.mit.edu 37 18 55283097 55283097 + Missense_Mutation SNP C C G TCGA-S5-AA26-01A-11D-A38G-08 TCGA-S5-AA26-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0edef79b-466e-4362-af00-3961ea0d904c ae0ccd07-e2c8-42b5-b900-2ecfda4104d2 g.chr18:55283097C>G ENST00000256854.5 - 3 659 c.204G>C c.(202-204)aaG>aaC p.K68N NARS_ENST00000423481.2_5'UTR NM_004539.3 NP_004530.1 O43776 SYNC_HUMAN asparaginyl-tRNA synthetase 68 asparaginyl-tRNA aminoacylation cytosol|soluble fraction asparagine-tRNA ligase activity|ATP binding|nucleic acid binding|protein binding breast(1)|endometrium(5)|large_intestine(5)|lung(8)|skin(1) 20 Colorectal(73;0.227) L-Asparagine(DB00174) TATGCCACATCTTTTTAATGT 0.388000 60 87 0 0 1 0 0 NARS 4677 broad.mit.edu 37 18 55282956 55282956 + Missense_Mutation SNP C C G TCGA-S5-AA26-01A-11D-A38G-08 TCGA-S5-AA26-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0edef79b-466e-4362-af00-3961ea0d904c ae0ccd07-e2c8-42b5-b900-2ecfda4104d2 g.chr18:55282956C>G ENST00000256854.5 - 4 714 c.259G>C c.(259-261)Gat>Cat p.D87H NARS_ENST00000423481.2_5'UTR NM_004539.3 NP_004530.1 O43776 SYNC_HUMAN asparaginyl-tRNA synthetase 87 asparaginyl-tRNA aminoacylation cytosol|soluble fraction asparagine-tRNA ligase activity|ATP binding|nucleic acid binding|protein binding breast(1)|endometrium(5)|large_intestine(5)|lung(8)|skin(1) 20 Colorectal(73;0.227) L-Asparagine(DB00174) CGTAAACTATCTTCTGCCTAA 0.373000 44 60 0 0 1 0 0 MYLPF 29895 broad.mit.edu 37 16 30387805 30387805 + Missense_Mutation SNP C C G TCGA-S5-AA26-01A-11D-A38G-08 TCGA-S5-AA26-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0edef79b-466e-4362-af00-3961ea0d904c ae0ccd07-e2c8-42b5-b900-2ecfda4104d2 g.chr16:30387805C>G ENST00000322861.7 + 4 315 c.234C>G c.(232-234)atC>atG p.I78M NM_013292.3 NP_037424.2 Q96A32 MLRS_HUMAN myosin light chain, phosphorylatable, fast skeletal muscle 78 skeletal muscle tissue development muscle myosin complex calcium ion binding|structural constituent of muscle large_intestine(2)|lung(4) 6 Colorectal(24;0.193) GCGGTCCCATCAACTTCACCG 0.602000 27 32 0 0 1 0 0 NPY1R 4886 broad.mit.edu 37 4 164247453 164247453 + Nonsense_Mutation SNP G G C TCGA-S5-AA26-01A-11D-A38G-08 TCGA-S5-AA26-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0edef79b-466e-4362-af00-3961ea0d904c ae0ccd07-e2c8-42b5-b900-2ecfda4104d2 g.chr4:164247453G>C ENST00000296533.2 - 2 785 c.254C>G c.(253-255)tCa>tGa p.S85* NPY1R_ENST00000509586.1_Intron NM_000909.5 NP_000900.1 P25929 NPY1R_HUMAN neuropeptide Y receptor Y1 85 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) AAGCAAGTCTGAGAAGGAAAG 0.413000 3 62 0 0 1 0 0 FBN3 84467 broad.mit.edu 37 19 8206643 8206643 + Missense_Mutation SNP G G C TCGA-S5-AA26-01A-11D-A38G-08 TCGA-S5-AA26-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0edef79b-466e-4362-af00-3961ea0d904c ae0ccd07-e2c8-42b5-b900-2ecfda4104d2 g.chr19:8206643G>C ENST00000600128.1 - 8 1237 c.823C>G c.(823-825)Cca>Gca p.P275A FBN3_ENST00000601739.1_Missense_Mutation_p.P275A|FBN3_ENST00000270509.2_Missense_Mutation_p.P275A Q75N90 FBN3_HUMAN fibrillin 3 275 EGF-like 2; calcium-binding. proteinaceous extracellular matrix calcium ion binding|extracellular matrix structural constituent NS(1)|breast(9)|central_nervous_system(2)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(8)|large_intestine(15)|lung(53)|ovary(7)|pancreas(2)|prostate(3)|skin(10)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(2) 132 TGTCCAACTGGACAGCGGCAA 0.627000 23 32 0 0 1 0 0 MAP3K11 4296 broad.mit.edu 37 11 65380753 65380753 + Nonsense_Mutation SNP C C A TCGA-S5-AA26-01A-11D-A38G-08 TCGA-S5-AA26-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0edef79b-466e-4362-af00-3961ea0d904c ae0ccd07-e2c8-42b5-b900-2ecfda4104d2 g.chr11:65380753C>A ENST00000309100.3 - 1 960 c.475G>T c.(475-477)Gag>Tag p.E159* NM_002419.3 NP_002410.1 Q16584 M3K11_HUMAN mitogen-activated protein kinase kinase kinase 11 159 Protein kinase. activation of JUN kinase activity|cell proliferation|G1 phase of mitotic cell cycle|microtubule-based process|positive regulation of JNK cascade|protein autophosphorylation centrosome|microtubule ATP binding|JUN kinase kinase kinase activity|mitogen-activated protein kinase kinase kinase binding|protein homodimerization activity breast(3)|central_nervous_system(1)|kidney(1)|large_intestine(4)|lung(14)|skin(1) 24 CGAACGCTCTCGGCTGTCACA 0.637000 26 36 2.48779e-11 2.61297e-11 1 1 0 MAGEB6 158809 broad.mit.edu 37 X 26212948 26212948 + Silent SNP C C A TCGA-S5-AA26-01A-11D-A38G-08 TCGA-S5-AA26-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0edef79b-466e-4362-af00-3961ea0d904c ae0ccd07-e2c8-42b5-b900-2ecfda4104d2 g.chrX:26212948C>A ENST00000379034.1 + 2 1134 c.985C>A c.(985-987)Cgg>Agg p.R329R NM_173523.2 NP_775794.2 Q8N7X4 MAGB6_HUMAN melanoma antigen family B, 6 329 MAGE. p.R329W(1) breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|liver(1)|lung(18)|ovary(3)|prostate(2) 33 TGGGGATGCTCGGAAGATCAT 0.502000 76 2 4.05997e-52 4.46063e-52 1 1 0 MAGEE2 139599 broad.mit.edu 37 X 75004061 75004061 + Missense_Mutation SNP C C T TCGA-S5-AA26-01A-11D-A38G-08 TCGA-S5-AA26-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0edef79b-466e-4362-af00-3961ea0d904c ae0ccd07-e2c8-42b5-b900-2ecfda4104d2 g.chrX:75004061C>T ENST00000373359.2 - 1 1018 c.826G>A c.(826-828)Gaa>Aaa p.E276K NM_138703.4 NP_619648.1 Q8TD90 MAGE2_HUMAN melanoma antigen family E, 2 276 MAGE 1. autonomic_ganglia(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(5)|lung(17)|ovary(1)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 34 CAGGGTTCTTCATCATGGGCA 0.493000 46 0 0 0 1 0 0 CSMD3 114788 broad.mit.edu 37 8 113314064 113314064 + Missense_Mutation SNP G G T TCGA-S5-AA26-01A-11D-A38G-08 TCGA-S5-AA26-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0edef79b-466e-4362-af00-3961ea0d904c ae0ccd07-e2c8-42b5-b900-2ecfda4104d2 g.chr8:113314064G>T ENST00000297405.5 - 53 8642 c.8398C>A c.(8398-8400)Ctt>Att p.L2800I CSMD3_ENST00000352409.3_Missense_Mutation_p.L2730I|CSMD3_ENST00000455883.2_Missense_Mutation_p.L2631I|CSMD3_ENST00000343508.3_Missense_Mutation_p.L2760I NM_198123.1 NP_937756.1 Q7Z407 CSMD3_HUMAN CUB and Sushi multiple domains 3 2800 Sushi 17. 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 CCTGAGGAAAGGCATTCCCTT 0.428000 HNSCC(6;0.00088)|TCGA Ovarian(7;0.080) 25 34 7.41945e-09 7.67213e-09 1 1 0 SMG7 9887 broad.mit.edu 37 1 183520300 183520300 + Missense_Mutation SNP C C G TCGA-S5-AA26-01A-11D-A38G-08 TCGA-S5-AA26-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0edef79b-466e-4362-af00-3961ea0d904c ae0ccd07-e2c8-42b5-b900-2ecfda4104d2 g.chr1:183520300C>G ENST00000367537.3 + 23 3569 c.3374C>G c.(3373-3375)tCt>tGt p.S1125C SMG7_ENST00000456731.2_Missense_Mutation_p.S1004C|SMG7_ENST00000508461.1_Missense_Mutation_p.S1100C|SMG7_ENST00000515829.2_Missense_Mutation_p.S1046C|SMG7_ENST00000347615.2_Missense_Mutation_p.S1092C|SMG7_ENST00000507469.1_Missense_Mutation_p.S1096C Q92540 SMG7_HUMAN SMG7 nonsense mediated mRNA decay factor 1092 mRNA export from nucleus|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay|regulation of dephosphorylation cytoplasm|intermediate filament cytoskeleton|nucleus protein phosphatase 2A binding breast(1)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(7)|lung(16)|prostate(3)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1) 46 GAGGATTCCTCTGCTGTCCTC 0.488000 25 63 0 0 1 0 0 ZNF211 10520 broad.mit.edu 37 19 58152612 58152612 + Missense_Mutation SNP G G A TCGA-S5-AA26-01A-11D-A38G-08 TCGA-S5-AA26-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0edef79b-466e-4362-af00-3961ea0d904c ae0ccd07-e2c8-42b5-b900-2ecfda4104d2 g.chr19:58152612G>A ENST00000544273.1 + 5 1121 c.794G>A c.(793-795)aGa>aAa p.R265K ZNF211_ENST00000541801.1_Missense_Mutation_p.R244K|ZNF211_ENST00000347302.3_Missense_Mutation_p.R253K|ZNF211_ENST00000254182.7_Missense_Mutation_p.R244K|ZNF211_ENST00000391703.3_Missense_Mutation_p.R192K|ZNF211_ENST00000420680.1_Missense_Mutation_p.R257K|ZNF211_ENST00000299871.5_Missense_Mutation_p.R318K|ZNF211_ENST00000240731.4_Missense_Mutation_p.R266K Q13398 ZN211_HUMAN zinc finger protein 211 253 nucleus DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(8)|ovary(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 26 Colorectal(82;5.46e-05)|all_neural(62;0.0218)|Breast(46;0.0389)|Ovarian(87;0.0443)|Renal(1328;0.157) UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.026) ATCCTCACTAGAGAAGGACTT 0.438000 9 163 0 0 1 0 0 SH3BP5 9467 broad.mit.edu 37 3 15303698 15303698 + Silent SNP C C T TCGA-S5-AA26-01A-11D-A38G-08 TCGA-S5-AA26-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0edef79b-466e-4362-af00-3961ea0d904c ae0ccd07-e2c8-42b5-b900-2ecfda4104d2 g.chr3:15303698C>T ENST00000383791.3 - 5 814 c.594G>A c.(592-594)gaG>gaA p.E198E SH3BP5_ENST00000426925.1_Silent_p.E41E|SH3BP5_ENST00000253688.5_Silent_p.E41E|SH3BP5_ENST00000408919.3_Silent_p.E41E|SH3BP5-AS1_ENST00000420195.1_RNA NM_004844.4 NP_004835.2 O60239 3BP5_HUMAN SH3-domain binding protein 5 (BTK-associated) 198 intracellular signal transduction mitochondrion protein kinase inhibitor activity|SH3 domain binding NS(1)|endometrium(3)|large_intestine(3)|lung(3)|ovary(1)|prostate(1) 12 TGAGTTTCTTCTCCAGCTGTC 0.582000 27 37 0 0 1 0 0 CYP39A1 51302 broad.mit.edu 37 6 46605606 46605606 + Missense_Mutation SNP C C G TCGA-S5-AA26-01A-11D-A38G-08 TCGA-S5-AA26-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0edef79b-466e-4362-af00-3961ea0d904c ae0ccd07-e2c8-42b5-b900-2ecfda4104d2 g.chr6:46605606C>G ENST00000275016.2 - 4 801 c.598G>C c.(598-600)Gat>Cat p.D200H NM_016593.3 NP_057677.2 Q9NYL5 CP39A_HUMAN cytochrome P450, family 39, subfamily A, polypeptide 1 200 bile acid biosynthetic process|bile acid catabolic process|digestion|xenobiotic metabolic process endoplasmic reticulum membrane|microsome 24-hydroxycholesterol 7alpha-hydroxylase activity|electron carrier activity|heme binding|oxysterol 7-alpha-hydroxylase activity EIF3K/CYP39A1(2) NS(1)|endometrium(2)|kidney(2)|large_intestine(5)|lung(6)|ovary(1)|prostate(2)|skin(2) 21 TACTCAAAATCTTCATCATAA 0.338000 33 27 0 0 1 0 0 GGA3 23163 broad.mit.edu 37 17 73239148 73239148 + Missense_Mutation SNP G G C TCGA-S5-AA26-01A-11D-A38G-08 TCGA-S5-AA26-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0edef79b-466e-4362-af00-3961ea0d904c ae0ccd07-e2c8-42b5-b900-2ecfda4104d2 g.chr17:73239148G>C ENST00000245541.6 - 6 740 c.524C>G c.(523-525)tCc>tGc p.S175C GGA3_ENST00000537686.1_Intron|GGA3_ENST00000582486.1_Missense_Mutation_p.S103C|GGA3_ENST00000582717.1_Missense_Mutation_p.S103C|GGA3_ENST00000538886.1_Missense_Mutation_p.S53C|GGA3_ENST00000351904.7_Missense_Mutation_p.S142C|GGA3_ENST00000578348.1_Missense_Mutation_p.S53C NM_138619.2 NP_619525.1 Q9NZ52 GGA3_HUMAN golgi-associated, gamma adaptin ear containing, ARF binding protein 3 175 Binds to ARF1 (in long isoform).|GAT. intracellular protein transport|vesicle-mediated transport clathrin adaptor complex|endosome membrane|trans-Golgi network ADP-ribosylation factor binding breast(2)|endometrium(3)|large_intestine(4)|liver(1)|lung(4)|ovary(2)|prostate(2)|skin(1)|urinary_tract(1) 20 all cancers(21;2.39e-06)|Epithelial(20;2.38e-05) CTTTACCTTGGACTTCTCCTC 0.552000 38 54 0 0 1 0 0 BSN 8927 broad.mit.edu 37 3 49701286 49701286 + Missense_Mutation SNP C C G TCGA-S5-AA26-01A-11D-A38G-08 TCGA-S5-AA26-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0edef79b-466e-4362-af00-3961ea0d904c ae0ccd07-e2c8-42b5-b900-2ecfda4104d2 g.chr3:49701286C>G ENST00000296452.4 + 8 11689 c.11575C>G c.(11575-11577)Cag>Gag p.Q3859E NM_003458.3 NP_003449.2 Q9UPA5 BSN_HUMAN bassoon presynaptic cytomatrix protein 3859 synaptic transmission cell junction|cytoplasm|cytoskeleton|nucleus|synaptosome metal ion binding breast(8)|central_nervous_system(2)|cervix(2)|endometrium(16)|kidney(3)|large_intestine(17)|lung(37)|ovary(7)|pancreas(1)|prostate(4)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1) 106 BRCA - Breast invasive adenocarcinoma(193;6.66e-05)|KIRC - Kidney renal clear cell carcinoma(197;0.0032)|Kidney(197;0.00336) GAGGGCTCCTCAGGCCCAGCC 0.582000 18 25 0 0 1 0 0 PTK7 5754 broad.mit.edu 37 6 43126678 43126678 + Missense_Mutation SNP C C G TCGA-S5-AA26-01A-11D-A38G-08 TCGA-S5-AA26-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0edef79b-466e-4362-af00-3961ea0d904c ae0ccd07-e2c8-42b5-b900-2ecfda4104d2 g.chr6:43126678C>G ENST00000230419.4 + 18 3066 c.2845C>G c.(2845-2847)Ctg>Gtg p.L949V PTK7_ENST00000352931.2_Missense_Mutation_p.L893V|PTK7_ENST00000481273.1_Missense_Mutation_p.L957V|PTK7_ENST00000345201.2_Missense_Mutation_p.L909V|PTK7_ENST00000349241.2_Missense_Mutation_p.L819V NM_002821.4 NP_002812.2 Q13308 PTK7_HUMAN protein tyrosine kinase 7 949 Interaction with CTNNB1.|Protein kinase; inactive. actin cytoskeleton reorganization|canonical Wnt receptor signaling pathway|cell adhesion|cell migration cell-cell junction|integral to plasma membrane ATP binding|transmembrane receptor protein tyrosine kinase activity NS(1)|breast(4)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(12)|lung(12)|ovary(2)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 46 Colorectal(64;0.00245)|COAD - Colon adenocarcinoma(64;0.00536)|all cancers(41;0.00784)|OV - Ovarian serous cystadenocarcinoma(102;0.0423) GGTGTCTGCCCTGGGCCTCAG 0.577000 13 15 0 0 1 0 0 SLC22A7 10864 broad.mit.edu 37 6 43267169 43267169 + Silent SNP G G A TCGA-S5-AA26-01A-11D-A38G-08 TCGA-S5-AA26-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0edef79b-466e-4362-af00-3961ea0d904c ae0ccd07-e2c8-42b5-b900-2ecfda4104d2 g.chr6:43267169G>A ENST00000372585.5 + 3 536 c.441G>A c.(439-441)gcG>gcA p.A147A SLC22A7_ENST00000487175.1_3'UTR|SLC22A7_ENST00000372589.3_Silent_p.A145A|SLC22A7_ENST00000372574.3_Silent_p.A145A NM_153320.2 NP_696961.2 Q9Y694 S22A7_HUMAN solute carrier family 22 (organic anion transporter), member 7 147 basolateral plasma membrane|integral to plasma membrane|membrane fraction anion:anion antiporter activity|sodium-independent organic anion transmembrane transporter activity NS(2)|endometrium(1)|kidney(1)|large_intestine(8)|lung(10)|prostate(1)|skin(3) 26 Colorectal(64;0.00245)|COAD - Colon adenocarcinoma(64;0.00536)|all cancers(41;0.00998)|OV - Ovarian serous cystadenocarcinoma(102;0.0305) ACAGAGCTGCGTCCACTTTCT 0.582000 35 40 0 0 1 0 0 NFIA 4774 broad.mit.edu 37 1 61818207 61818207 + Missense_Mutation SNP G G C TCGA-S5-AA26-01A-11D-A38G-08 TCGA-S5-AA26-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0edef79b-466e-4362-af00-3961ea0d904c ae0ccd07-e2c8-42b5-b900-2ecfda4104d2 g.chr1:61818207G>C ENST00000403491.3 + 5 1270 c.786G>C c.(784-786)atG>atC p.M262I NFIA_ENST00000371187.3_Missense_Mutation_p.M262I|NFIA_ENST00000371191.1_Missense_Mutation_p.M285I|NFIA_ENST00000371189.4_Missense_Mutation_p.M307I|NFIA_ENST00000479364.1_3'UTR|NFIA_ENST00000371185.2_Missense_Mutation_p.M240I|NFIA_ENST00000485903.2_Missense_Mutation_p.M262I|NFIA_ENST00000371184.2_Intron|NFIA_ENST00000407417.3_Missense_Mutation_p.M254I NM_001134673.3|NM_005595.4 NP_001128145.1|NP_005586.1 Q12857 NFIA_HUMAN nuclear factor I/A 262 DNA replication|viral genome replication cell junction|nucleus DNA binding|sequence-specific DNA binding transcription factor activity|transcription factor binding NFIA/EHF(2) endometrium(1)|kidney(2)|large_intestine(8)|lung(20)|pancreas(1)|prostate(1)|skin(1) 34 CAGGAGCAATGAGGAGGTCTT 0.418000 35 51 0 0 1 0 0 ASPHD1 253982 broad.mit.edu 37 16 29913153 29913153 + Missense_Mutation SNP C C G TCGA-S5-AA26-01A-11D-A38G-08 TCGA-S5-AA26-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0edef79b-466e-4362-af00-3961ea0d904c ae0ccd07-e2c8-42b5-b900-2ecfda4104d2 g.chr16:29913153C>G ENST00000308748.5 + 1 1113 c.861C>G c.(859-861)ttC>ttG p.F287L ASPHD1_ENST00000483405.1_Missense_Mutation_p.F6L NM_181718.3 NP_859069.2 Q5U4P2 ASPH1_HUMAN aspartate beta-hydroxylase domain containing 1 287 peptidyl-amino acid modification integral to endoplasmic reticulum membrane oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|peptide-aspartate beta-dioxygenase activity endometrium(4)|large_intestine(2)|lung(1)|prostate(1) 8 CCAACACCTTCGGCAATGCCG 0.657000 18 30 0 0 1 0 0 MYLPF 29895 broad.mit.edu 37 16 30387975 30387975 + Missense_Mutation SNP C C A TCGA-S5-AA26-01A-11D-A38G-08 TCGA-S5-AA26-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0edef79b-466e-4362-af00-3961ea0d904c ae0ccd07-e2c8-42b5-b900-2ecfda4104d2 g.chr16:30387975C>A ENST00000322861.7 + 5 393 c.312C>A c.(310-312)ttC>ttA p.F104L NM_013292.3 NP_037424.2 Q96A32 MLRS_HUMAN myosin light chain, phosphorylatable, fast skeletal muscle 104 EF-hand 2. skeletal muscle tissue development muscle myosin complex calcium ion binding|structural constituent of muscle large_intestine(2)|lung(4) 6 Colorectal(24;0.193) CCGGAGCCTTCAAGGTCTTGG 0.617000 23 20 7.92952e-12 8.35476e-12 1 1 0 AIP 9049 broad.mit.edu 37 11 67250649 67250649 + Missense_Mutation SNP G G C TCGA-S5-AA26-01A-11D-A38G-08 TCGA-S5-AA26-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0edef79b-466e-4362-af00-3961ea0d904c ae0ccd07-e2c8-42b5-b900-2ecfda4104d2 g.chr11:67250649G>C ENST00000279146.3 + 1 138 c.20G>C c.(19-21)aGa>aCa p.R7T NM_003977.2 NP_003968.2 O00170 AIP_HUMAN aryl hydrocarbon receptor interacting protein 7 protein maturation by protein folding|protein targeting to mitochondrion nucleus signal transducer activity|transcription coactivator activity|transcription factor binding|unfolded protein binding central_nervous_system(1)|large_intestine(1)|lung(3)|skin(2) 7 ATCATCGCAAGACTCCGGGAG 0.582000 Familial Isolated Pituitary Adenoma 14 24 0 0 1 0 0 FANCA 2175 broad.mit.edu 37 16 89806408 89806408 + Missense_Mutation SNP C C T TCGA-S5-AA26-01A-11D-A38G-08 TCGA-S5-AA26-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0edef79b-466e-4362-af00-3961ea0d904c ae0ccd07-e2c8-42b5-b900-2ecfda4104d2 g.chr16:89806408C>T ENST00000389301.3 - 39 3958 c.3928G>A c.(3928-3930)Gag>Aag p.E1310K ZNF276_ENST00000289816.5_3'UTR|FANCA_ENST00000568369.1_Missense_Mutation_p.E1310K NM_000135.2 NP_000126.2 O15360 FANCA_HUMAN Fanconi anemia, complementation group A 1310 DNA repair|protein complex assembly cytoplasm|nucleoplasm protein binding breast(5)|central_nervous_system(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(16)|ovary(3)|skin(2)|urinary_tract(3) 47 Lung NSC(15;8.48e-06)|all_lung(18;1.31e-05)|all_hematologic(23;0.0194) BRCA - Breast invasive adenocarcinoma(80;0.028) TTACCACTCTCTGTCAACTGA 0.512000 """D, Mis, N, F, S""" """AML, leukemia""" Involved in tolerance or repair of DNA crosslinks Fanconi Anemia 74 100 0 0 1 0 0 INPP5F 22876 broad.mit.edu 37 10 121587072 121587072 + Missense_Mutation SNP C C T TCGA-S5-AA26-01A-11D-A38G-08 TCGA-S5-AA26-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0edef79b-466e-4362-af00-3961ea0d904c ae0ccd07-e2c8-42b5-b900-2ecfda4104d2 g.chr10:121587072C>T ENST00000361976.2 + 20 3345 c.3179C>T c.(3178-3180)tCa>tTa p.S1060L INPP5F_ENST00000369080.3_Missense_Mutation_p.S450L NM_014937.3 NP_055752.1 Q9Y2H2 SAC2_HUMAN inositol polyphosphate-5-phosphatase F 1060 phosphoric ester hydrolase activity breast(1)|cervix(1)|endometrium(7)|kidney(4)|large_intestine(9)|lung(5)|ovary(5)|pancreas(1)|prostate(1)|skin(1)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(3) 42 Lung NSC(174;0.109)|all_lung(145;0.142) all cancers(201;0.00205)|BRCA - Breast invasive adenocarcinoma(275;0.158) CCTTCTCCTTCAGAGAGCAGT 0.498000 52 52 0 0 1 0 0 KLHDC8B 200942 broad.mit.edu 37 3 49211740 49211740 + Missense_Mutation SNP G G A TCGA-S5-AA26-01A-11D-A38G-08 TCGA-S5-AA26-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0edef79b-466e-4362-af00-3961ea0d904c ae0ccd07-e2c8-42b5-b900-2ecfda4104d2 g.chr3:49211740G>A ENST00000332780.2 + 3 654 c.445G>A c.(445-447)Gag>Aag p.E149K KLHDC8B_ENST00000476495.2_3'UTR NM_173546.2 NP_775817.1 Q8IXV7 KLD8B_HUMAN kelch domain containing 8B 149 cytoplasm endometrium(1)|kidney(1)|large_intestine(2)|lung(1)|skin(1)|stomach(1) 7 BRCA - Breast invasive adenocarcinoma(193;8.01e-05)|Kidney(197;0.00217)|KIRC - Kidney renal clear cell carcinoma(197;0.00244) ACGTGTGTATGAGCCCCGTCG 0.577000 48 51 0 0 1 0 0 ZFHX3 463 broad.mit.edu 37 16 72821618 72821618 + Silent SNP A A G rs112443847 TCGA-S5-AA26-01A-11D-A38G-08 TCGA-S5-AA26-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0edef79b-466e-4362-af00-3961ea0d904c ae0ccd07-e2c8-42b5-b900-2ecfda4104d2 g.chr16:72821618A>G ENST00000268489.5 - 10 11229 c.10557T>C c.(10555-10557)ggT>ggC p.G3519G ZFHX3_ENST00000397992.5_Silent_p.G2605G|AC004943.1_ENST00000584072.1_RNA NM_006885.3 NP_008816.3 Q15911 ZFHX3_HUMAN zinc finger homeobox 3 3519 Poly-Gly. muscle organ development|negative regulation of myoblast differentiation|negative regulation of transcription from RNA polymerase II promoter|negative regulation of transcription, DNA-dependent|positive regulation of myoblast differentiation transcription factor complex enzyme binding|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|transcription regulatory region DNA binding|zinc ion binding p.G3519G(3) NS(3)|breast(7)|cervix(2)|endometrium(18)|haematopoietic_and_lymphoid_tissue(5)|kidney(8)|large_intestine(22)|liver(1)|lung(46)|ovary(5)|pancreas(1)|prostate(15)|skin(6)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(11) 153 Ovarian(137;0.13) cgccgccgccaccgccgccgc 0.716000 3 32 0 0 1 0 0 LTBP4 8425 broad.mit.edu 37 19 41119318 41119318 + Missense_Mutation SNP G G A TCGA-S5-AA26-01A-11D-A38G-08 TCGA-S5-AA26-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0edef79b-466e-4362-af00-3961ea0d904c ae0ccd07-e2c8-42b5-b900-2ecfda4104d2 g.chr19:41119318G>A ENST00000308370.7 + 20 2641 c.2641G>A c.(2641-2643)Gag>Aag p.E881K LTBP4_ENST00000396819.3_Missense_Mutation_p.E814K|LTBP4_ENST00000204005.9_Missense_Mutation_p.E844K|LTBP4_ENST00000545697.1_Missense_Mutation_p.E334K|LTBP4_ENST00000602240.1_3'UTR NM_001042544.1 NP_001036009.1 Q8N2S1 LTBP4_HUMAN latent transforming growth factor beta binding protein 4 881 Cys-rich.|EGF-like 10; calcium-binding (Potential). growth hormone secretion|multicellular organismal development|protein folding|regulation of cell differentiation|regulation of cell growth|regulation of proteolysis|regulation of transforming growth factor beta receptor signaling pathway extracellular space|proteinaceous extracellular matrix calcium ion binding|glycosaminoglycan binding|integrin binding|transforming growth factor beta binding|transforming growth factor beta receptor activity central_nervous_system(1) 1 Lung(22;0.000158)|LUSC - Lung squamous cell carcinoma(20;0.000384) AGACGTGAACGAGTGCCTGGA 0.657000 12 7 0 0 1 0 0 UNC5A 90249 broad.mit.edu 37 5 176295922 176295922 + Silent SNP C C T TCGA-S5-AA26-01A-11D-A38G-08 TCGA-S5-AA26-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0edef79b-466e-4362-af00-3961ea0d904c ae0ccd07-e2c8-42b5-b900-2ecfda4104d2 g.chr5:176295922C>T ENST00000329542.4 + 5 952 c.678C>T c.(676-678)atC>atT p.I226I UNC5A_ENST00000261961.3_Silent_p.I186I NM_133369.2 NP_588610.2 Q6ZN44 UNC5A_HUMAN unc-5 homolog A (C. elegans) 226 Ig-like C2-type. apoptosis|axon guidance|regulation of apoptosis integral to membrane|plasma membrane endometrium(4)|kidney(3)|large_intestine(2)|lung(14)|ovary(1)|pancreas(1)|prostate(1)|skin(6)|upper_aerodigestive_tract(2) 34 all_cancers(89;0.000119)|Renal(175;0.000269)|Lung NSC(126;0.00696)|all_lung(126;0.0115) Medulloblastoma(196;0.00498)|all_neural(177;0.0138) Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178) CCAAGAACATCGTGGCACGTC 0.672000 24 26 0 0 1 0 0 CNTN4 152330 broad.mit.edu 37 3 3067947 3067947 + Missense_Mutation SNP G G C TCGA-S5-AA26-01A-11D-A38G-08 TCGA-S5-AA26-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0edef79b-466e-4362-af00-3961ea0d904c ae0ccd07-e2c8-42b5-b900-2ecfda4104d2 g.chr3:3067947G>C ENST00000397461.1 + 14 2032 c.1648G>C c.(1648-1650)Gaa>Caa p.E550Q CNTN4_ENST00000397459.2_Missense_Mutation_p.E222Q|CNTN4_ENST00000418658.1_Missense_Mutation_p.E550Q|CNTN4_ENST00000358480.3_Missense_Mutation_p.E331Q|CNTN4_ENST00000448906.2_Missense_Mutation_p.E222Q|CNTN4_ENST00000427331.1_Missense_Mutation_p.E550Q NM_001206955.1 NP_001193884.1 Q8IWV2 CNTN4_HUMAN contactin 4 550 Ig-like C2-type 6. axon guidance|axonal fasciculation|brain development|negative regulation of neuron differentiation|neuron cell-cell adhesion|regulation of synaptic plasticity anchored to membrane|axon|extracellular region|plasma membrane protein binding NS(1)|breast(4)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(14)|lung(19)|ovary(2)|pancreas(4)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(1) 61 Ovarian(110;0.156) Epithelial(13;0.000695)|all cancers(10;0.0047)|OV - Ovarian serous cystadenocarcinoma(96;0.01) GGACCACTTTGAAAGAGTTGG 0.363000 46 33 0 0 1 0 0 EDC4 23644 broad.mit.edu 37 16 67913803 67913803 + Silent SNP C C T TCGA-S5-AA26-01A-11D-A38G-08 TCGA-S5-AA26-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0edef79b-466e-4362-af00-3961ea0d904c ae0ccd07-e2c8-42b5-b900-2ecfda4104d2 g.chr16:67913803C>T ENST00000358933.5 + 16 2111 c.1872C>T c.(1870-1872)agC>agT p.S624S NM_014329.4 NP_055144.3 Q6P2E9 EDC4_HUMAN enhancer of mRNA decapping 4 624 Ser-rich. exonucleolytic nuclear-transcribed mRNA catabolic process involved in deadenylation-dependent decay cytoplasmic mRNA processing body|cytosol|nucleus protein binding breast(3)|central_nervous_system(2)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(4)|lung(8)|ovary(4)|skin(2)|upper_aerodigestive_tract(4)|urinary_tract(2) 41 Ovarian(137;0.0563) OV - Ovarian serous cystadenocarcinoma(108;0.0042)|Epithelial(162;0.0185)|all cancers(182;0.121) gcagcagcagcagtagcagca 0.602000 3 36 0 0 1 0 0 CARD10 29775 broad.mit.edu 37 22 37915040 37915040 + Silent SNP G G T TCGA-S5-AA26-01A-11D-A38G-08 TCGA-S5-AA26-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0edef79b-466e-4362-af00-3961ea0d904c ae0ccd07-e2c8-42b5-b900-2ecfda4104d2 g.chr22:37915040G>T ENST00000403299.1 - 2 384 c.168C>A c.(166-168)gtC>gtA p.V56V CARD10_ENST00000251973.5_Silent_p.V56V Q9BWT7 CAR10_HUMAN caspase recruitment domain family, member 10 56 CARD. activation of NF-kappaB-inducing kinase activity|protein complex assembly|regulation of apoptosis CBM complex receptor signaling complex scaffold activity NS(1)|breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(5)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1) 17 Melanoma(58;0.0574) GCTCGTCGATGACCCGGCACT 0.706000 6 13 3.59834e-05 3.67536e-05 1 1 0 KCNJ13 3769 broad.mit.edu 37 2 233633050 233633050 + Missense_Mutation SNP G G C TCGA-S5-AA26-01A-11D-A38G-08 TCGA-S5-AA26-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0edef79b-466e-4362-af00-3961ea0d904c ae0ccd07-e2c8-42b5-b900-2ecfda4104d2 g.chr2:233633050G>C ENST00000233826.3 - 3 1073 c.934C>G c.(934-936)Caa>Gaa p.Q312E GIGYF2_ENST00000409196.3_Intron|KCNJ13_ENST00000410029.1_Missense_Mutation_p.Q312E|GIGYF2_ENST00000409547.1_Intron|GIGYF2_ENST00000409480.1_Intron|GIGYF2_ENST00000373566.3_Intron|GIGYF2_ENST00000409451.3_Intron|KCNJ13_ENST00000409779.1_3'UTR|GIGYF2_ENST00000452341.2_Intron|GIGYF2_ENST00000373563.4_Intron NM_002242.4 NP_002233.2 O60928 IRK13_HUMAN potassium inwardly-rectifying channel, subfamily J, member 13 312 voltage-gated potassium channel complex inward rectifier potassium channel activity endometrium(3)|large_intestine(2)|lung(2)|stomach(1)|urinary_tract(1) 9 Breast(86;0.00279)|all_hematologic(139;0.00793)|Renal(207;0.0112)|Acute lymphoblastic leukemia(138;0.0182)|all_lung(227;0.0306)|Lung NSC(271;0.0908) Epithelial(121;5.9e-17)|BRCA - Breast invasive adenocarcinoma(100;0.000311)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(119;0.00942)|GBM - Glioblastoma multiforme(43;0.0617) ATCTTGATTTGATATTCACCT 0.428000 92 12 0 0 1 0 0 NDST1 3340 broad.mit.edu 37 5 149907591 149907591 + Missense_Mutation SNP G G C TCGA-S5-AA26-01A-11D-A38G-08 TCGA-S5-AA26-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0edef79b-466e-4362-af00-3961ea0d904c ae0ccd07-e2c8-42b5-b900-2ecfda4104d2 g.chr5:149907591G>C ENST00000261797.6 + 3 1241 c.739G>C c.(739-741)Gag>Cag p.E247Q NDST1_ENST00000523767.1_Missense_Mutation_p.E247Q NM_001543.4 NP_001534.1 P52848 NDST1_HUMAN N-deacetylase/N-sulfotransferase (heparan glucosaminyl) 1 247 Heparan sulfate N-deacetylase 1. heparan sulfate proteoglycan biosynthetic process|inflammatory response Golgi membrane|integral to membrane [heparan sulfate]-glucosamine N-sulfotransferase activity|hydrolase activity breast(2)|central_nervous_system(3)|endometrium(5)|kidney(1)|large_intestine(6)|lung(10)|ovary(3)|skin(3)|upper_aerodigestive_tract(1) 34 all_hematologic(541;0.224) KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101) GCGCTCGTCTGAGTCCATCCC 0.647000 14 18 0 0 1 0 0 FGF12 2257 broad.mit.edu 37 3 191861850 191861850 + Missense_Mutation SNP G G C TCGA-S5-AA26-01A-11D-A38G-08 TCGA-S5-AA26-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0edef79b-466e-4362-af00-3961ea0d904c ae0ccd07-e2c8-42b5-b900-2ecfda4104d2 g.chr3:191861850G>C ENST00000445105.2 - 6 739 c.494C>G c.(493-495)tCt>tGt p.S165C FGF12_ENST00000430714.1_Missense_Mutation_p.S128C|FGF12_ENST00000454309.2_Missense_Mutation_p.S227C|FGF12_ENST00000264730.3_Missense_Mutation_p.S165C|FGF12_ENST00000450716.1_Missense_Mutation_p.S165C NM_004113.5 NP_004104.3 P61328 FGF12_HUMAN fibroblast growth factor 12 cell-cell signaling|heart development|JNK cascade|nervous system development|signal transduction extracellular space|nucleus growth factor activity|heparin binding endometrium(1)|large_intestine(7)|lung(14)|ovary(2)|pancreas(1)|skin(4)|upper_aerodigestive_tract(1) 30 all_cancers(143;1.72e-08)|Ovarian(172;0.0634)|Breast(254;0.247) Lung NSC(153;0.21) LUSC - Lung squamous cell carcinoma(58;5.45e-06)|Lung(62;6.17e-06) GBM - Glioblastoma multiforme(46;0.00032) TGGTGTTCCAGAACTTTTCCT 0.418000 82 87 0 0 1 0 0 PCDHA11 56138 broad.mit.edu 37 5 140250983 140250983 + Silent SNP G G A TCGA-S5-AA26-01A-11D-A38G-08 TCGA-S5-AA26-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0edef79b-466e-4362-af00-3961ea0d904c ae0ccd07-e2c8-42b5-b900-2ecfda4104d2 g.chr5:140250983G>A ENST00000398640.2 + 1 2295 c.2295G>A c.(2293-2295)aaG>aaA p.K765K PCDHA5_ENST00000529619.1_Intron|PCDHA4_ENST00000512229.2_Intron|PCDHA8_ENST00000531613.1_Intron|PCDHA7_ENST00000525929.1_Intron|PCDHA10_ENST00000506939.2_Intron|PCDHA5_ENST00000529859.1_Intron|PCDHA3_ENST00000522353.2_Intron|PCDHA2_ENST00000526136.1_Intron|PCDHA9_ENST00000532602.1_Intron|PCDHA1_ENST00000504120.2_Intron|PCDHA6_ENST00000529310.1_Intron|PCDHA1_ENST00000394633.3_Intron|PCDHA4_ENST00000530339.1_Intron|PCDHA10_ENST00000307360.5_Intron|PCDHA6_ENST00000527624.1_Intron NM_018902.3 NP_061725.1 breast(1)|lung(1) 2 KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191) GCCCACCTAAGACGGACCTCA 0.632000 16 15 0 0 1 0 0 CORO6 84940 broad.mit.edu 37 17 27944540 27944540 + Missense_Mutation SNP C C T TCGA-S5-AA26-01A-11D-A38G-08 TCGA-S5-AA26-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0edef79b-466e-4362-af00-3961ea0d904c ae0ccd07-e2c8-42b5-b900-2ecfda4104d2 g.chr17:27944540C>T ENST00000345068.5 - 6 944 c.731G>A c.(730-732)cGa>cAa p.R244Q CORO6_ENST00000456796.3_Intron|CORO6_ENST00000580212.1_Intron|CORO6_ENST00000577909.1_Intron|RP11-68I3.2_ENST00000581474.1_RNA|CORO6_ENST00000584969.1_Intron|CORO6_ENST00000388767.3_Missense_Mutation_p.R244Q|CORO6_ENST00000445145.2_Intron Q6QEF8 CORO6_HUMAN coronin 6 244 actin cytoskeleton organization actin cytoskeleton actin filament binding breast(1)|cervix(1)|endometrium(1)|large_intestine(4)|lung(4)|prostate(1)|urinary_tract(2) 14 GCCCAGCTCTCGCTGGCTCAT 0.692000 5 24 0 0 1 0 0 FGFBP2 83888 broad.mit.edu 37 4 15964575 15964575 + Missense_Mutation SNP G G A TCGA-S5-AA26-01A-11D-A38G-08 TCGA-S5-AA26-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0edef79b-466e-4362-af00-3961ea0d904c ae0ccd07-e2c8-42b5-b900-2ecfda4104d2 g.chr4:15964575G>A ENST00000259989.6 - 1 284 c.178C>T c.(178-180)Cgt>Tgt p.R60C FGFBP2_ENST00000509331.1_Intron NM_031950.3 NP_114156.1 Q9BYJ0 FGFP2_HUMAN fibroblast growth factor binding protein 2 60 extracellular space growth factor binding central_nervous_system(1)|lung(5)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1) 9 CAGTCGACACGAAGCCAGACT 0.577000 21 4 0 0 1 0 0 C3 718 broad.mit.edu 37 19 6680264 6680264 + Missense_Mutation SNP G G C TCGA-S5-AA26-01A-11D-A38G-08 TCGA-S5-AA26-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0edef79b-466e-4362-af00-3961ea0d904c ae0ccd07-e2c8-42b5-b900-2ecfda4104d2 g.chr19:6680264G>C ENST00000245907.6 - 36 4453 c.4361C>G c.(4360-4362)tCt>tGt p.S1454C NM_000064.2 NP_000055.2 P01024 CO3_HUMAN complement component 3 1454 Properdin-binding. complement activation, alternative pathway|complement activation, classical pathway|G-protein coupled receptor protein signaling pathway|inflammatory response|positive regulation vascular endothelial growth factor production extracellular space endopeptidase inhibitor activity|receptor binding breast(5)|endometrium(7)|kidney(6)|large_intestine(18)|liver(1)|lung(18)|ovary(1)|pancreas(1)|prostate(5)|skin(7)|upper_aerodigestive_tract(3) 72 GBM - Glioblastoma multiforme(1328;1.36e-05)|Lung(535;0.00661) GTCATCCTCAGAGTGTGAGAC 0.517000 32 42 0 0 1 0 0 ADCY7 113 broad.mit.edu 37 16 50346848 50346848 + Silent SNP C C T rs143161770 TCGA-S5-AA26-01A-11D-A38G-08 TCGA-S5-AA26-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0edef79b-466e-4362-af00-3961ea0d904c ae0ccd07-e2c8-42b5-b900-2ecfda4104d2 g.chr16:50346848C>T ENST00000394697.2 + 22 2992 c.2652C>T c.(2650-2652)tcC>tcT p.S884S ADCY7_ENST00000254235.3_Silent_p.S884S P51828 ADCY7_HUMAN adenylate cyclase 7 884 Guanylate cyclase 2. activation of adenylate cyclase activity by G-protein signaling pathway|activation of phospholipase C activity|activation of protein kinase A activity|cellular response to ethanol|cellular response to glucagon stimulus|energy reserve metabolic process|inhibition of adenylate cyclase activity by G-protein signaling pathway|nerve growth factor receptor signaling pathway|positive regulation of cAMP biosynthetic process|synaptic transmission|transmembrane transport|water transport integral to membrane|plasma membrane adenylate cyclase activity|ATP binding|metal ion binding breast(1)|cervix(1)|endometrium(5)|large_intestine(6)|lung(14)|ovary(1)|prostate(1)|skin(2)|stomach(1)|urinary_tract(3) 35 all_cancers(37;0.0127) GBM - Glioblastoma multiforme(240;0.195) Bromocriptine(DB01200) TGTTTGCCTCCGTGCCGGACT 0.532000 28 35 0 0 1 0 0 LILRA6 79168 broad.mit.edu 37 19 54744189 54744189 + Missense_Mutation SNP G G T TCGA-S5-AA26-01A-11D-A38G-08 TCGA-S5-AA26-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0edef79b-466e-4362-af00-3961ea0d904c ae0ccd07-e2c8-42b5-b900-2ecfda4104d2 g.chr19:54744189G>T ENST00000419410.2 - 6 1220 c.1219C>A c.(1219-1221)Ctg>Atg p.L407M LILRA6_ENST00000440558.2_Intron|LILRB3_ENST00000407860.2_Intron|LILRA6_ENST00000245621.5_Missense_Mutation_p.L407M|LILRA6_ENST00000270464.5_Intron|LILRA6_ENST00000396365.2_Missense_Mutation_p.L407M|LILRA6_ENST00000391735.3_3'UTR leukocyte immunoglobulin-like receptor, subfamily A (with TM domain), member 6 central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(4)|lung(20)|ovary(3)|skin(2)|urinary_tract(2) 38 all_cancers(19;0.00723)|all_epithelial(19;0.00389)|all_lung(19;0.0175)|Lung NSC(19;0.0325)|Ovarian(34;0.19) GBM - Glioblastoma multiforme(193;0.105) GGGAAAGACAGCAGGTGGGGG 0.617000 6 150 0.0438628 0.0438628 1 1 0 CACNB2 783 broad.mit.edu 37 10 18828234 18828234 + Missense_Mutation SNP G G A TCGA-S5-AA26-01A-11D-A38G-08 TCGA-S5-AA26-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0edef79b-466e-4362-af00-3961ea0d904c ae0ccd07-e2c8-42b5-b900-2ecfda4104d2 g.chr10:18828234G>A ENST00000396576.2 + 13 1900 c.1399G>A c.(1399-1401)Gtg>Atg p.V467M CACNB2_ENST00000377315.4_Missense_Mutation_p.V474M|CACNB2_ENST00000377331.2_Missense_Mutation_p.V470M|CACNB2_ENST00000377319.3_Missense_Mutation_p.V429M|CACNB2_ENST00000377329.4_Missense_Mutation_p.V468M|CACNB2_ENST00000377328.1_Missense_Mutation_p.V272M|CACNB2_ENST00000352115.6_Missense_Mutation_p.V498M|CACNB2_ENST00000324631.7_Missense_Mutation_p.V522M|RP11-499P20.2_ENST00000425669.1_RNA|CACNB2_ENST00000282343.8_Missense_Mutation_p.V494M NM_000724.3 NP_000715.2 Q08289 CACB2_HUMAN calcium channel, voltage-dependent, beta 2 subunit 522 axon guidance|neuromuscular junction development integral to plasma membrane|sarcolemma|voltage-gated calcium channel complex protein binding|voltage-gated calcium channel activity NS(1)|breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(8)|lung(12)|prostate(1)|skin(3)|stomach(2) 31 Magnesium Sulfate(DB00653)|Verapamil(DB00661) AGAACCTAGTGTGGAACCAGT 0.567000 28 23 0 0 1 0 0 KLHL25 64410 broad.mit.edu 37 15 86311544 86311544 + Missense_Mutation SNP C C G TCGA-S5-AA26-01A-11D-A38G-08 TCGA-S5-AA26-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0edef79b-466e-4362-af00-3961ea0d904c ae0ccd07-e2c8-42b5-b900-2ecfda4104d2 g.chr15:86311544C>G ENST00000337975.5 - 2 1772 c.1498G>C c.(1498-1500)Gac>Cac p.D500H KLHL25_ENST00000536947.1_Missense_Mutation_p.D500H|KLHL25_ENST00000559131.1_Intron NM_022480.3 NP_071925.2 Q9H0H3 ENC2_HUMAN kelch-like family member 25 500 cytoplasm breast(1)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(7)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(2) 25 AATTCCGTGTCACCTCCCATG 0.627000 14 99 0 0 1 0 0 KMT2D 8085 broad.mit.edu 37 12 49444501 49444501 + Nonsense_Mutation SNP A A T TCGA-S5-AA26-01A-11D-A38G-08 TCGA-S5-AA26-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0edef79b-466e-4362-af00-3961ea0d904c ae0ccd07-e2c8-42b5-b900-2ecfda4104d2 g.chr12:49444501A>T ENST00000301067.7 - 11 2869 c.2870T>A c.(2869-2871)tTa>tAa p.L957* NM_003482.3 NP_003473.3 lysine (K)-specific methyltransferase 2D GGGGTACTCTAACTCCCCCAA 0.587000 11 12 0 0 1 0 0 DHX33 56919 broad.mit.edu 37 17 5352147 5352147 + Silent SNP C C G TCGA-S5-AA26-01A-11D-A38G-08 TCGA-S5-AA26-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0edef79b-466e-4362-af00-3961ea0d904c ae0ccd07-e2c8-42b5-b900-2ecfda4104d2 g.chr17:5352147C>G ENST00000225296.3 - 11 1997 c.1797G>C c.(1795-1797)ctG>ctC p.L599L DHX33_ENST00000433302.3_Silent_p.L375L NM_001199699.1|NM_020162.3 NP_001186628.1|NP_064547.2 Q9H6R0 DHX33_HUMAN DEAH (Asp-Glu-Ala-His) box polypeptide 33 599 nucleolus ATP binding|ATP-dependent helicase activity|nucleic acid binding breast(1)|cervix(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(2)|lung(2)|ovary(1)|pancreas(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 17 AGATGTCCCTCAGCTGTGCTC 0.423000 19 23 0 0 1 0 0 KIF26B 55083 broad.mit.edu 37 1 245704078 245704078 + Missense_Mutation SNP G G T TCGA-S5-AA26-01A-11D-A38G-08 TCGA-S5-AA26-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0edef79b-466e-4362-af00-3961ea0d904c ae0ccd07-e2c8-42b5-b900-2ecfda4104d2 g.chr1:245704078G>T ENST00000366518.4 + 2 137 c.33G>T c.(31-33)caG>caT p.Q11H KIF26B_ENST00000407071.2_Missense_Mutation_p.Q392H Q2KJY2 KI26B_HUMAN kinesin family member 26B 392 microtubule-based movement cytoplasm|microtubule ATP binding|microtubule motor activity breast(1)|central_nervous_system(2)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(4)|lung(21)|ovary(4)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 51 all_cancers(71;3.86e-05)|all_epithelial(71;0.000121)|Ovarian(71;0.0412)|all_lung(81;0.0498)|Lung NSC(105;0.0708)|Breast(184;0.127) OV - Ovarian serous cystadenocarcinoma(106;0.022) GAGCTGCCCAGAAGTTAAATC 0.458000 93 60 7.62712e-44 8.32502e-44 1 1 0 TBC1D9B 23061 broad.mit.edu 37 5 179290559 179290559 + Silent SNP C C T TCGA-S5-AA26-01A-11D-A38G-08 TCGA-S5-AA26-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0edef79b-466e-4362-af00-3961ea0d904c ae0ccd07-e2c8-42b5-b900-2ecfda4104d2 g.chr5:179290559C>T ENST00000356834.3 - 22 3679 c.3642G>A c.(3640-3642)gtG>gtA p.V1214V TBC1D9B_ENST00000355235.3_Silent_p.V1197V|TBC1D9B_ENST00000518085.1_5'UTR|TBC1D9B_ENST00000519746.1_Silent_p.V373V|TBC1D9B_ENST00000444477.2_Silent_p.V355V NM_198868.2 NP_942568.2 Q66K14 TBC9B_HUMAN TBC1 domain family, member 9B (with GRAM domain) 1214 integral to membrane|intracellular calcium ion binding|Rab GTPase activator activity breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(9)|prostate(2)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(2) 28 all_cancers(89;0.000197)|all_epithelial(37;6.84e-05)|Renal(175;0.000159)|Lung NSC(126;0.00136)|all_lung(126;0.00243) all_cancers(40;0.0236)|Medulloblastoma(196;0.00498)|all_neural(177;0.0138) Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178) CAAAGAAGTTCACCAGCACGG 0.577000 21 33 0 0 1 0 0 FOXJ2 55810 broad.mit.edu 37 12 8197368 8197368 + Missense_Mutation SNP G G T TCGA-S5-AA26-01A-11D-A38G-08 TCGA-S5-AA26-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0edef79b-466e-4362-af00-3961ea0d904c ae0ccd07-e2c8-42b5-b900-2ecfda4104d2 g.chr12:8197368G>T ENST00000162391.3 + 6 1776 c.631G>T c.(631-633)Gtg>Ttg p.V211L FOXJ2_ENST00000428177.2_Missense_Mutation_p.V211L NM_018416.2 NP_060886.1 Q9P0K8 FOXJ2_HUMAN forkhead box J2 211 embryo development|organ development|pattern specification process|positive regulation of transcription, DNA-dependent|regulation of sequence-specific DNA binding transcription factor activity|tissue development nucleolus|transcription factor complex DNA bending activity|double-stranded DNA binding|promoter binding|protein domain specific binding|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|specific RNA polymerase II transcription factor activity|specific transcriptional repressor activity|transcription factor binding autonomic_ganglia(1)|large_intestine(2)|lung(6)|ovary(2)|skin(3)|upper_aerodigestive_tract(2) 16 Kidney(36;0.0944) CACAGGATCTGTGGATGGTGG 0.522000 42 47 5.20837e-25 5.66643e-25 1 1 0 POLQ 10721 broad.mit.edu 37 3 121206680 121206680 + Missense_Mutation SNP C C G TCGA-S5-AA26-01A-11D-A38G-08 TCGA-S5-AA26-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0edef79b-466e-4362-af00-3961ea0d904c ae0ccd07-e2c8-42b5-b900-2ecfda4104d2 g.chr3:121206680C>G ENST00000264233.5 - 16 5226 c.5098G>C c.(5098-5100)Gaa>Caa p.E1700Q NM_199420.3 NP_955452.3 O75417 DPOLQ_HUMAN polymerase (DNA directed), theta 1700 DNA repair|DNA replication nucleoplasm ATP binding|ATP-dependent helicase activity|damaged DNA binding|DNA-directed DNA polymerase activity|single-stranded DNA-dependent ATPase activity NS(2)|breast(7)|central_nervous_system(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(16)|lung(55)|ovary(5)|prostate(3)|skin(4)|stomach(2)|upper_aerodigestive_tract(4)|urinary_tract(2) 120 GBM - Glioblastoma multiforme(114;0.0915) CTTTTTACTTCATTATTAGAA 0.313000 DNA polymerases (catalytic subunits) 42 43 0 0 1 0 0 RNF216 54476 broad.mit.edu 37 7 5781266 5781266 + Missense_Mutation SNP C C G TCGA-S5-AA26-01A-11D-A38G-08 TCGA-S5-AA26-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0edef79b-466e-4362-af00-3961ea0d904c ae0ccd07-e2c8-42b5-b900-2ecfda4104d2 g.chr7:5781266C>G ENST00000425013.2 - 4 435 c.211G>C c.(211-213)Gag>Cag p.E71Q RNF216_ENST00000389902.3_Missense_Mutation_p.E128Q NM_207111.3|NM_207116.2 NP_996994.1|NP_996999.1 Q9NWF9 RN216_HUMAN ring finger protein 216 71 apoptosis|interspecies interaction between organisms|proteasomal ubiquitin-dependent protein catabolic process|protein K48-linked ubiquitination|regulation of defense response to virus by host|regulation of interferon-beta production cytoplasm|nucleus ligase activity|protein binding|zinc ion binding FBXL18/RNF216(2) breast(3)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(4)|lung(11)|ovary(3)|prostate(1)|skin(1)|urinary_tract(4) 33 Ovarian(82;0.07) UCEC - Uterine corpus endometrioid carcinoma (126;0.135)|OV - Ovarian serous cystadenocarcinoma(56;2.69e-13) TAGTCATCCTCAGAATCATCC 0.453000 70 71 0 0 1 0 0 ACAN 176 broad.mit.edu 37 15 89402203 89402203 + Silent SNP G G C TCGA-S5-AA26-01A-11D-A38G-08 TCGA-S5-AA26-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0edef79b-466e-4362-af00-3961ea0d904c ae0ccd07-e2c8-42b5-b900-2ecfda4104d2 g.chr15:89402203G>C ENST00000439576.2 + 12 6761 c.6387G>C c.(6385-6387)ctG>ctC p.L2129L ACAN_ENST00000352105.7_Silent_p.L2129L|ACAN_ENST00000559004.1_Silent_p.L2129L|ACAN_ENST00000561243.1_Silent_p.L2129L NM_013227.3 NP_037359.3 E7EX88 E7EX88_HUMAN aggrecan 2129 cell adhesion hyaluronic acid binding|sugar binding NS(1)|central_nervous_system(4)|cervix(1)|endometrium(3)|kidney(4)|large_intestine(15)|liver(2)|lung(40)|ovary(2)|prostate(5)|skin(5)|stomach(8)|upper_aerodigestive_tract(1)|urinary_tract(2) 93 Lung NSC(78;0.0392)|all_lung(78;0.077) BRCA - Breast invasive adenocarcinoma(143;0.146) CCCCTGATCTGAGTGAAACCA 0.572000 39 35 0 0 1 0 0 GRIN2C 2905 broad.mit.edu 37 17 72842932 72842932 + Missense_Mutation SNP G G A TCGA-S5-AA26-01A-11D-A38G-08 TCGA-S5-AA26-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0edef79b-466e-4362-af00-3961ea0d904c ae0ccd07-e2c8-42b5-b900-2ecfda4104d2 g.chr17:72842932G>A ENST00000293190.5 - 10 2275 c.2129C>T c.(2128-2130)tCg>tTg p.S710L GRIN2C_ENST00000347612.4_Missense_Mutation_p.S710L NM_000835.3 NP_000826.2 Q14957 NMDE3_HUMAN glutamate receptor, ionotropic, N-methyl D-aspartate 2C 710 glutamate signaling pathway cell junction|outer membrane-bounded periplasmic space|postsynaptic membrane extracellular-glutamate-gated ion channel activity|N-methyl-D-aspartate selective glutamate receptor activity NS(1)|breast(3)|central_nervous_system(1)|endometrium(2)|large_intestine(6)|lung(15)|ovary(2)|skin(2)|urinary_tract(1) 33 all_lung(278;0.172)|Lung NSC(278;0.207) Glycine(DB00145)|L-Glutamic Acid(DB00142)|Loperamide(DB00836) GTCCTCCACCGAGCGCTGGTT 0.627000 16 34 0 0 1 0 0 PARK7 11315 broad.mit.edu 37 1 8029462 8029462 + Missense_Mutation SNP G G A TCGA-S5-AA26-01A-11D-A38G-08 TCGA-S5-AA26-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0edef79b-466e-4362-af00-3961ea0d904c ae0ccd07-e2c8-42b5-b900-2ecfda4104d2 g.chr1:8029462G>A ENST00000493678.1 + 4 317 c.250G>A c.(250-252)Gag>Aag p.E84K PARK7_ENST00000497113.1_3'UTR|PARK7_ENST00000377493.5_Intron|PARK7_ENST00000377491.1_Missense_Mutation_p.E84K|PARK7_ENST00000377488.1_Missense_Mutation_p.E84K|PARK7_ENST00000338639.5_Missense_Mutation_p.E84K Q99497 PARK7_HUMAN parkinson protein 7 84 autophagy|cell death|cellular response to hydrogen peroxide|inflammatory response|mitochondrion organization|negative regulation of cell death|negative regulation of protein binding|neuroprotection|protein stabilization|regulation of androgen receptor signaling pathway|regulation of inflammatory response|single fertilization mitochondrion|nucleus mRNA binding|peptidase activity|peroxidase activity|protein homodimerization activity large_intestine(1) 1 Ovarian(185;0.06)|all_lung(157;0.151) all_epithelial(116;1.76e-16)|all_lung(118;3.66e-05)|Lung NSC(185;0.000163)|Renal(390;0.000469)|Colorectal(325;0.0033)|Breast(348;0.0044)|Hepatocellular(190;0.0228)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.11) UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|all cancers(8;1.28e-70)|GBM - Glioblastoma multiforme(8;3.05e-36)|Colorectal(212;6.83e-08)|COAD - Colon adenocarcinoma(227;7.51e-06)|Kidney(185;5.22e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000414)|KIRC - Kidney renal clear cell carcinoma(229;0.000967)|STAD - Stomach adenocarcinoma(132;0.00102)|READ - Rectum adenocarcinoma(331;0.0649) GAATTTATCTGAGGTAAAAAA 0.343000 22 29 0 0 1 0 0 TTLL5 23093 broad.mit.edu 37 14 76349136 76349136 + Missense_Mutation SNP C C G TCGA-S5-AA26-01A-11D-A38G-08 TCGA-S5-AA26-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0edef79b-466e-4362-af00-3961ea0d904c ae0ccd07-e2c8-42b5-b900-2ecfda4104d2 g.chr14:76349136C>G ENST00000298832.9 + 30 3836 c.3631C>G c.(3631-3633)Ctg>Gtg p.L1211V TTLL5_ENST00000556893.1_Missense_Mutation_p.L762V|TTLL5_ENST00000554510.1_Missense_Mutation_p.L720V|TTLL5_ENST00000557636.1_Missense_Mutation_p.L1226V NM_015072.4 NP_055887.3 Q6EMB2 TTLL5_HUMAN tubulin tyrosine ligase-like family, member 5 1211 protein modification process|transcription, DNA-dependent centrosome|cilium|microtubule basal body|nucleus tubulin-tyrosine ligase activity NS(2)|breast(2)|central_nervous_system(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(4)|kidney(1)|large_intestine(3)|lung(22)|ovary(2)|pancreas(1)|prostate(2)|skin(2)|urinary_tract(2) 50 BRCA - Breast invasive adenocarcinoma(234;0.029) GCCAACCACTCTGCCACAAAA 0.512000 17 66 0 0 1 0 0 GOLGA4 2803 broad.mit.edu 37 3 37376628 37376628 + Missense_Mutation SNP G G A TCGA-S5-AA26-01A-11D-A38G-08 TCGA-S5-AA26-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0edef79b-466e-4362-af00-3961ea0d904c ae0ccd07-e2c8-42b5-b900-2ecfda4104d2 g.chr3:37376628G>A ENST00000361924.2 + 17 6651 c.6277G>A c.(6277-6279)Gag>Aag p.E2093K GOLGA4_ENST00000356847.4_Missense_Mutation_p.E2115K|GOLGA4_ENST00000444882.1_Intron NM_002078.4 NP_002069.2 Q13439 GOGA4_HUMAN golgin A4 2093 Glu-rich. Golgi to plasma membrane protein transport Golgi membrane|trans-Golgi network protein binding NS(2)|breast(3)|central_nervous_system(3)|endometrium(6)|kidney(2)|large_intestine(17)|liver(2)|lung(16)|ovary(4)|prostate(2)|skin(4)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 65 GCAAAAGCTAGAGCAGGAGGA 0.418000 5 4 0 0 1 0 0 SNX2 6643 broad.mit.edu 37 5 122152657 122152657 + Missense_Mutation SNP G G C TCGA-S5-AA26-01A-11D-A38G-08 TCGA-S5-AA26-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0edef79b-466e-4362-af00-3961ea0d904c ae0ccd07-e2c8-42b5-b900-2ecfda4104d2 g.chr5:122152657G>C ENST00000379516.2 + 9 954 c.846G>C c.(844-846)ttG>ttC p.L282F SNX2_ENST00000510372.1_3'UTR|SNX2_ENST00000514949.1_Missense_Mutation_p.L165F NM_003100.2 NP_003091.2 O60749 SNX2_HUMAN sorting nexin 2 282 cell communication|endocytosis|intracellular protein transport early endosome membrane phosphatidylinositol binding|protein binding|protein transporter activity NS(1)|breast(1)|endometrium(4)|kidney(3)|large_intestine(6)|lung(2)|prostate(1)|skin(1) 19 all_cancers(142;1.14e-44)|all_lung(232;1.03e-13)|Lung NSC(810;2.5e-13)|Breast(839;0.000812)|Myeloproliferative disorder(839;0.0122)|Prostate(80;0.0235)|all_hematologic(541;0.0592)|all_neural(839;0.243) KIRC - Kidney renal clear cell carcinoma(527;0.0897)|Kidney(363;0.137) all cancers(49;2.13e-24)|Epithelial(69;6.15e-22)|OV - Ovarian serous cystadenocarcinoma(64;5.6e-11)|BRCA - Breast invasive adenocarcinoma(61;0.00013)|GBM - Glioblastoma multiforme(465;0.000357)|COAD - Colon adenocarcinoma(49;0.000887)|Lung(113;0.0109) CAGGAATATTGAGGATGGTGA 0.433000 22 22 0 0 1 0 0 NAV3 89795 broad.mit.edu 37 12 78334155 78334155 + Missense_Mutation SNP C C G TCGA-S5-AA26-01A-11D-A38G-08 TCGA-S5-AA26-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0edef79b-466e-4362-af00-3961ea0d904c ae0ccd07-e2c8-42b5-b900-2ecfda4104d2 g.chr12:78334155C>G ENST00000397909.2 + 2 473 c.300C>G c.(298-300)atC>atG p.I100M NAV3_ENST00000228327.6_Missense_Mutation_p.I100M|NAV3_ENST00000536525.2_Missense_Mutation_p.I100M|NAV3_ENST00000266692.7_Missense_Mutation_p.I100M Q8IVL0 NAV3_HUMAN neuron navigator 3 100 CH. nuclear outer membrane ATP binding|nucleoside-triphosphatase activity NS(2)|breast(5)|central_nervous_system(2)|cervix(1)|endometrium(13)|kidney(16)|large_intestine(39)|liver(2)|lung(126)|ovary(5)|pancreas(3)|prostate(6)|skin(5)|stomach(2)|upper_aerodigestive_tract(8)|urinary_tract(1) 236 AGCGGCTGATCAAGGACTTGC 0.453000 HNSCC(70;0.22) 75 101 0 0 1 0 0 NUP155 9631 broad.mit.edu 37 5 37329339 37329339 + Missense_Mutation SNP G G A TCGA-S5-AA26-01A-11D-A38G-08 TCGA-S5-AA26-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0edef79b-466e-4362-af00-3961ea0d904c ae0ccd07-e2c8-42b5-b900-2ecfda4104d2 g.chr5:37329339G>A ENST00000231498.3 - 16 1969 c.1766C>T c.(1765-1767)cCg>cTg p.P589L NUP155_ENST00000381843.2_Missense_Mutation_p.P530L|NUP155_ENST00000513532.1_Missense_Mutation_p.P589L NM_153485.1 NP_705618.1 O75694 NU155_HUMAN nucleoporin 155kDa 589 Pro-rich. carbohydrate metabolic process|glucose transport|mRNA transport|nucleocytoplasmic transport|protein transport|regulation of glucose transport|transmembrane transport|viral reproduction nuclear membrane|nuclear pore protein binding|structural constituent of nuclear pore|transporter activity endometrium(1)|kidney(16)|large_intestine(5)|lung(29)|ovary(2)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2) 62 all_lung(31;0.000137) COAD - Colon adenocarcinoma(61;0.14)|Colorectal(62;0.202) ACTTGGAGGCGGAAGAGTGGT 0.378000 25 23 0 0 1 0 0 DIEXF 27042 broad.mit.edu 37 1 210012395 210012395 + Missense_Mutation SNP G G A TCGA-S5-AA26-01A-11D-A38G-08 TCGA-S5-AA26-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0edef79b-466e-4362-af00-3961ea0d904c ae0ccd07-e2c8-42b5-b900-2ecfda4104d2 g.chr1:210012395G>A ENST00000491415.2 + 7 1261 c.1204G>A c.(1204-1206)Gag>Aag p.E402K NM_014388.6 NP_055203.4 Q68CQ4 DIEXF_HUMAN digestive organ expansion factor homolog (zebrafish) 402 multicellular organismal development nucleus breast(6)|central_nervous_system(2)|cervix(2)|endometrium(2)|kidney(15)|large_intestine(7)|lung(12)|ovary(1)|skin(3)|stomach(1)|urinary_tract(2) 53 AGATCCCGAGGAGAGACCACC 0.453000 35 39 0 0 1 0 0 SFRP1 6422 broad.mit.edu 37 8 41122737 41122737 + Missense_Mutation SNP C C T TCGA-S5-AA26-01A-11D-A38G-08 TCGA-S5-AA26-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0edef79b-466e-4362-af00-3961ea0d904c ae0ccd07-e2c8-42b5-b900-2ecfda4104d2 g.chr8:41122737C>T ENST00000220772.3 - 3 1231 c.894G>A c.(892-894)atG>atA p.M298I SFRP1_ENST00000379845.3_Missense_Mutation_p.M162I NM_003012.4 NP_003003.3 Q8N474 SFRP1_HUMAN secreted frizzled-related protein 1 298 NTR. brain development|canonical Wnt receptor signaling pathway|cellular response to BMP stimulus|cellular response to estradiol stimulus|cellular response to fibroblast growth factor stimulus|cellular response to heparin|cellular response to hypoxia|cellular response to interleukin-1|cellular response to prostaglandin E stimulus|cellular response to starvation|cellular response to transforming growth factor beta stimulus|cellular response to tumor necrosis factor|cellular response to vitamin D|DNA fragmentation involved in apoptotic nuclear change|dorsal/ventral axis specification|hemopoietic progenitor cell differentiation|hemopoietic stem cell differentiation|menstrual cycle phase|negative regulation of androgen receptor signaling pathway|negative regulation of B cell differentiation|negative regulation of bone remodeling|negative regulation of canonical Wnt receptor signaling pathway involved in controlling type B pancreatic cell proliferation|negative regulation of cell growth|negative regulation of cell migration|negative regulation of cysteine-type endopeptidase activity|negative regulation of epithelial cell proliferation|negative regulation of epithelial to mesenchymal transition|negative regulation of fibroblast apoptosis|negative regulation of fibroblast proliferation|negative regulation of insulin secretion|negative regulation of ossification|negative regulation of osteoblast proliferation|negative regulation of peptidyl-tyrosine phosphorylation|negative regulation of transcription, DNA-dependent|negative regulation of Wnt receptor signaling pathway involved in dorsal/ventral axis specification|osteoblast differentiation|positive regulation of canonical Wnt receptor signaling pathway|positive regulation of cell growth|positive regulation of epithelial cell proliferation|positive regulation of fat cell differentiation|positive regulation of fibroblast apoptosis|positive regulation of focal adhesion assembly|positive regulation of non-canonical Wnt receptor signaling pathway|positive regulation of Rac GTPase activity|positive regulation of smoothened signaling pathway|positive regulation of stress fiber assembly|positive regulation of transcription, DNA-dependent|regulation of angiogenesis|regulation of cell cycle process|response to drug|response to organic cyclic compound|vasculature development cell surface|cytosol|extracellular space|plasma membrane|proteinaceous extracellular matrix cysteine-type endopeptidase activity|drug binding|frizzled binding|heparin binding|identical protein binding|PDZ domain binding|Wnt receptor activity|Wnt-protein binding breast(1)|central_nervous_system(1)|large_intestine(2)|liver(1)|lung(1)|skin(1) 7 Breast(1;9.19e-13)|Ovarian(28;0.00769)|Colorectal(14;0.0305)|Lung SC(25;0.211) all_lung(54;0.0034)|Lung NSC(58;0.0134)|Hepatocellular(245;0.023)|Esophageal squamous(32;0.0559) BRCA - Breast invasive adenocarcinoma(1;1.11e-10)|LUSC - Lung squamous cell carcinoma(45;0.00894)|COAD - Colon adenocarcinoma(11;0.0174) TCATTTTCTTCATGAAGTTTT 0.547000 23 21 0 0 1 0 0 PCDHB13 56123 broad.mit.edu 37 5 140594246 140594246 + Missense_Mutation SNP G G A TCGA-S5-AA26-01A-11D-A38G-08 TCGA-S5-AA26-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0edef79b-466e-4362-af00-3961ea0d904c ae0ccd07-e2c8-42b5-b900-2ecfda4104d2 g.chr5:140594246G>A ENST00000341948.4 + 1 738 c.551G>A c.(550-552)cGc>cAc p.R184H NM_018933.2 NP_061756.1 Q9Y5F0 PCDBD_HUMAN 184 Cadherin 2. calcium-dependent cell-cell adhesion|homophilic cell adhesion|synapse assembly|synaptic transmission integral to membrane|plasma membrane calcium ion binding NS(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(14)|liver(4)|lung(24)|ovary(5)|pancreas(1)|skin(4)|upper_aerodigestive_tract(1) 66 KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339) GTCCTCACCCGCAAACGCAGT 0.488000 35 39 0 0 1 0 0 MBP 4155 broad.mit.edu 37 18 74696844 74696844 + Missense_Mutation SNP C C T TCGA-S5-AA26-01A-11D-A38G-08 TCGA-S5-AA26-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0edef79b-466e-4362-af00-3961ea0d904c ae0ccd07-e2c8-42b5-b900-2ecfda4104d2 g.chr18:74696844C>T ENST00000355994.2 - 8 1020 c.757G>A c.(757-759)Gaa>Aaa p.E253K MBP_ENST00000527041.1_Intron|MBP_ENST00000528160.1_Intron|MBP_ENST00000354542.4_Intron|MBP_ENST00000580402.1_Missense_Mutation_p.E253K|MBP_ENST00000526111.1_Missense_Mutation_p.E98K|MBP_ENST00000397869.3_Missense_Mutation_p.E185K|MBP_ENST00000397866.4_Missense_Mutation_p.E120K|MBP_ENST00000359645.3_Missense_Mutation_p.E135K|MBP_ENST00000397865.5_Missense_Mutation_p.E109K|MBP_ENST00000382582.3_Missense_Mutation_p.E146K|MBP_ENST00000397875.3_Missense_Mutation_p.E130K|MBP_ENST00000578193.1_Missense_Mutation_p.E120K|MBP_ENST00000579129.1_Intron NM_001025101.1 NP_001020272.1 P02686 MBP_HUMAN myelin basic protein 253 Induces experimental autoimmune encephalomyelitis (EAE) 2. central nervous system development|immune response|synaptic transmission plasma membrane structural constituent of myelin sheath endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(5)|ovary(1)|prostate(2)|stomach(1)|upper_aerodigestive_tract(1) 19 Prostate(75;0.0865)|Esophageal squamous(42;0.129)|Melanoma(33;0.211) OV - Ovarian serous cystadenocarcinoma(15;1.79e-06)|BRCA - Breast invasive adenocarcinoma(31;0.113)|READ - Rectum adenocarcinoma(1;0.188) CTCTGGCCTTCGGCCCCCTGC 0.637000 27 38 0 0 1 0 0 NUDT22 84304 broad.mit.edu 37 11 63996989 63996989 + Silent SNP G G C TCGA-S5-AA26-01A-11D-A38G-08 TCGA-S5-AA26-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0edef79b-466e-4362-af00-3961ea0d904c ae0ccd07-e2c8-42b5-b900-2ecfda4104d2 g.chr11:63996989G>C ENST00000279206.3 + 5 873 c.717G>C c.(715-717)ctG>ctC p.L239L NUDT22_ENST00000441250.2_Silent_p.L206L|RP11-783K16.14_ENST00000534988.1_RNA NM_001128612.2|NM_032344.2 NP_001122084.1|NP_115720 Q9BRQ3 NUD22_HUMAN nudix (nucleoside diphosphate linked moiety X)-type motif 22 239 Nudix hydrolase. hydrolase activity breast(1)|endometrium(1)|large_intestine(2)|lung(4) 8 AGCACTACCTGAGTGGGGGAC 0.597000 54 64 0 0 1 0 0 CASC1 55259 broad.mit.edu 37 12 25261528 25261528 + Missense_Mutation SNP G G C TCGA-S5-AA26-01A-11D-A38G-08 TCGA-S5-AA26-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0edef79b-466e-4362-af00-3961ea0d904c ae0ccd07-e2c8-42b5-b900-2ecfda4104d2 g.chr12:25261528G>C ENST00000395990.2 - 17 2242 c.1985C>G c.(1984-1986)tCt>tGt p.S662C CASC1_ENST00000320267.9_Missense_Mutation_p.S702C|CASC1_ENST00000545133.1_Missense_Mutation_p.S643C|CASC1_ENST00000354189.5_3'UTR|CASC1_ENST00000395987.3_Missense_Mutation_p.S708C|CASC1_ENST00000537577.1_3'UTR NM_001204102.1 NP_001191031 Q6TDU7 CASC1_HUMAN cancer susceptibility candidate 1 702 breast(3)|central_nervous_system(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(13)|liver(1)|lung(3)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(1) 31 Acute lymphoblastic leukemia(6;0.00112)|all_hematologic(7;0.00152)|Melanoma(3;0.0301)|Colorectal(261;0.11) OV - Ovarian serous cystadenocarcinoma(3;7.42e-20)|Epithelial(3;7.58e-16)|all cancers(3;1.07e-13) GTGGCACACAGAGTTGACAAA 0.418000 26 20 0 0 1 0 0 HELB 92797 broad.mit.edu 37 12 66698843 66698843 + Missense_Mutation SNP G G A TCGA-S5-AA26-01A-11D-A38G-08 TCGA-S5-AA26-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0edef79b-466e-4362-af00-3961ea0d904c ae0ccd07-e2c8-42b5-b900-2ecfda4104d2 g.chr12:66698843G>A ENST00000247815.4 + 2 579 c.520G>A c.(520-522)Gga>Aga p.G174R NM_033647.3 NP_387467.2 Q8NG08 HELB_HUMAN helicase (DNA) B 174 DNA replication, synthesis of RNA primer ATP binding|ATP-dependent 5'-3' DNA helicase activity|single-stranded DNA-dependent ATP-dependent DNA helicase activity autonomic_ganglia(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(10)|lung(15)|pancreas(1)|prostate(3)|upper_aerodigestive_tract(1) 40 GBM - Glioblastoma multiforme(2;0.000142) GBM - Glioblastoma multiforme(28;0.0265) CAAGGAAACTGGAAGGAAAGA 0.358000 3 68 0 0 1 0 0 GALR2 8811 broad.mit.edu 37 17 74073146 74073146 + Silent SNP C C T TCGA-S5-AA26-01A-11D-A38G-08 TCGA-S5-AA26-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0edef79b-466e-4362-af00-3961ea0d904c ae0ccd07-e2c8-42b5-b900-2ecfda4104d2 g.chr17:74073146C>T ENST00000329003.3 + 2 888 c.798C>T c.(796-798)ctC>ctT p.L266L NM_003857.2 NP_003848.1 O43603 GALR2_HUMAN galanin receptor 2 266 digestion|elevation of cytosolic calcium ion concentration|feeding behavior|learning or memory|muscle contraction integral to membrane|plasma membrane galanin receptor activity cervix(1)|lung(4)|upper_aerodigestive_tract(2)|urinary_tract(1) 8 AGTTCCCGCTCACGCGCGCCA 0.627000 15 26 0 0 1 0 0 DOPEY1 23033 broad.mit.edu 37 6 83810490 83810490 + Missense_Mutation SNP C C A TCGA-S5-AA26-01A-11D-A38G-08 TCGA-S5-AA26-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0edef79b-466e-4362-af00-3961ea0d904c ae0ccd07-e2c8-42b5-b900-2ecfda4104d2 g.chr6:83810490C>A ENST00000349129.2 + 4 465 c.205C>A c.(205-207)Caa>Aaa p.Q69K DOPEY1_ENST00000369739.3_Missense_Mutation_p.Q69K|DOPEY1_ENST00000237163.5_Missense_Mutation_p.Q69K|DOPEY1_ENST00000536812.1_Missense_Mutation_p.Q69K NM_015018.3 NP_055833.2 Q5JWR5 DOP1_HUMAN dopey family member 1 69 protein transport breast(4)|central_nervous_system(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(15)|lung(16)|ovary(5)|pancreas(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(2) 67 all_cancers(76;2.29e-06)|Acute lymphoblastic leukemia(125;3.41e-06)|all_hematologic(105;0.000865)|all_epithelial(107;0.00203) BRCA - Breast invasive adenocarcinoma(397;0.053) ACGCCTAGCTCAATGTCTACA 0.378000 92 113 4.00701e-44 4.38801e-44 1 1 0 TBC1D4 9882 broad.mit.edu 37 13 75869116 75869116 + Missense_Mutation SNP C C G TCGA-S5-AA26-01A-11D-A38G-08 TCGA-S5-AA26-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0edef79b-466e-4362-af00-3961ea0d904c ae0ccd07-e2c8-42b5-b900-2ecfda4104d2 g.chr13:75869116C>G ENST00000377636.3 - 18 3536 c.3190G>C c.(3190-3192)Gac>Cac p.D1064H TBC1D4_ENST00000425511.1_Missense_Mutation_p.D228H|TBC1D4_ENST00000478591.1_5'UTR|TBC1D4_ENST00000431480.2_Missense_Mutation_p.D1056H|TBC1D4_ENST00000377625.2_Missense_Mutation_p.D1001H NM_014832.2 NP_055647.2 O60343 TBCD4_HUMAN TBC1 domain family, member 4 1064 Rab-GAP TBC. cytoplasm Rab GTPase activator activity breast(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(12)|lung(18)|ovary(4)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2) 50 Prostate(6;0.014)|Breast(118;0.0982) GBM - Glioblastoma multiforme(99;0.0116) CTGTGATAGTCATGAAGGAGC 0.393000 37 54 0 0 1 0 0 OR4C15 81309 broad.mit.edu 37 11 55322565 55322565 + Silent SNP C C T TCGA-S5-AA26-01A-11D-A38G-08 TCGA-S5-AA26-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0edef79b-466e-4362-af00-3961ea0d904c ae0ccd07-e2c8-42b5-b900-2ecfda4104d2 g.chr11:55322565C>T ENST00000314644.2 + 1 783 c.783C>T c.(781-783)atC>atT p.I261I NM_001001920.1 NP_001001920.1 Q8NGM1 OR4CF_HUMAN olfactory receptor, family 4, subfamily C, member 15 207 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(7)|lung(31)|ovary(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(5) 56 TTATCTGCATCATAAACTTCT 0.473000 HNSCC(20;0.049) 29 30 0 0 1 0 0 EGF 1950 broad.mit.edu 37 4 110908959 110908959 + Missense_Mutation SNP G G C TCGA-S5-AA26-01A-11D-A38G-08 TCGA-S5-AA26-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0edef79b-466e-4362-af00-3961ea0d904c ae0ccd07-e2c8-42b5-b900-2ecfda4104d2 g.chr4:110908959G>C ENST00000265171.5 + 17 2996 c.2551G>C c.(2551-2553)Gag>Cag p.E851Q EGF_ENST00000503392.1_Missense_Mutation_p.E851Q|EGF_ENST00000509793.1_Missense_Mutation_p.E809Q NM_001178130.1|NM_001963.4 NP_001171601.1|NP_001954.2 P01133 EGF_HUMAN epidermal growth factor 851 EGF-like 6. angiogenesis|DNA replication|epidermal growth factor receptor signaling pathway|negative regulation of epidermal growth factor receptor signaling pathway|negative regulation of secretion|platelet activation|platelet degranulation|positive regulation of catenin import into nucleus|positive regulation of epidermal growth factor receptor activity|positive regulation of MAP kinase activity|positive regulation of mitosis|regulation of calcium ion import|regulation of protein localization at cell surface integral to membrane|plasma membrane|platelet alpha granule lumen calcium ion binding|epidermal growth factor receptor binding|growth factor activity|transmembrane receptor protein tyrosine kinase activator activity breast(1)|central_nervous_system(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(4)|lung(19)|ovary(1)|pancreas(1)|prostate(1)|skin(4)|soft_tissue(1)|upper_aerodigestive_tract(1)|urinary_tract(2) 50 Hepatocellular(203;0.0893) OV - Ovarian serous cystadenocarcinoma(123;9.87e-06) Sulindac(DB00605) TTCAGAGGGAGAGGATGCCAC 0.428000 40 68 0 0 1 0 0 EPS8L1 54869 broad.mit.edu 37 19 55593204 55593204 + Missense_Mutation SNP G G C TCGA-S5-AA26-01A-11D-A38G-08 TCGA-S5-AA26-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0edef79b-466e-4362-af00-3961ea0d904c ae0ccd07-e2c8-42b5-b900-2ecfda4104d2 g.chr19:55593204G>C ENST00000201647.6 + 9 894 c.838G>C c.(838-840)Gag>Cag p.E280Q EPS8L1_ENST00000592824.1_3'UTR|EPS8L1_ENST00000245618.5_Missense_Mutation_p.E153Q|EPS8L1_ENST00000586329.1_Missense_Mutation_p.E262Q|EPS8L1_ENST00000588359.1_Intron|EPS8L1_ENST00000540810.1_Missense_Mutation_p.E216Q NM_133180.2 NP_573441.2 Q8TE68 ES8L1_HUMAN EPS8-like 1 280 cytoplasm NS(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(1)|liver(2)|lung(3)|ovary(1)|prostate(1) 12 BRCA - Breast invasive adenocarcinoma(297;0.209) GBM - Glioblastoma multiforme(193;0.044) GAAGTCGGCGGAGGCGGCCAG 0.692000 32 18 0 0 1 0 0 ZNF483 158399 broad.mit.edu 37 9 114305209 114305209 + Missense_Mutation SNP G G A TCGA-S5-AA26-01A-11D-A38G-08 TCGA-S5-AA26-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0edef79b-466e-4362-af00-3961ea0d904c ae0ccd07-e2c8-42b5-b900-2ecfda4104d2 g.chr9:114305209G>A ENST00000309235.5 + 6 2152 c.1994G>A c.(1993-1995)tGt>tAt p.C665Y ZNF483_ENST00000358151.4_Intron NM_133464.2 NP_597721.2 Q8TF39 ZN483_HUMAN zinc finger protein 483 665 viral reproduction nucleus DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding breast(1)|endometrium(1)|kidney(1)|large_intestine(11)|lung(11)|ovary(1)|skin(5) 31 CCTTATAAATGTAAAGAATGT 0.408000 17 3 0 0 1 0 0 OR56A1 120796 broad.mit.edu 37 11 6048536 6048536 + Missense_Mutation SNP G G C TCGA-S5-AA26-01A-11D-A38G-08 TCGA-S5-AA26-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0edef79b-466e-4362-af00-3961ea0d904c ae0ccd07-e2c8-42b5-b900-2ecfda4104d2 g.chr11:6048536G>C ENST00000316650.5 - 1 435 c.399C>G c.(397-399)atC>atG p.I133M NM_001001917.2 NP_001001917.2 Q8NGH5 O56A1_HUMAN olfactory receptor, family 56, subfamily A, member 1 133 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity breast(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(6)|lung(22)|ovary(2) 33 Medulloblastoma(188;0.00776)|all_neural(188;0.0652)|Breast(177;0.114) Epithelial(150;7.01e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135) GTGGGTGGCAGATGGCCACAT 0.512000 10 19 0 0 1 0 0 EP400 57634 broad.mit.edu 37 12 132490704 132490704 + Missense_Mutation SNP C C G TCGA-S5-AA26-01A-11D-A38G-08 TCGA-S5-AA26-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0edef79b-466e-4362-af00-3961ea0d904c ae0ccd07-e2c8-42b5-b900-2ecfda4104d2 g.chr12:132490704C>G ENST00000333577.4 + 15 3200 c.3091C>G c.(3091-3093)Ctc>Gtc p.L1031V EP400_ENST00000332482.4_Missense_Mutation_p.L958V|EP400_ENST00000389562.2_Missense_Mutation_p.L994V|EP400_ENST00000389561.2_Missense_Mutation_p.L995V|EP400_ENST00000330386.6_Missense_Mutation_p.L995V Q96L91 EP400_HUMAN E1A binding protein p400 1031 Interactions with RUVBL1 and RUVBL2. histone H2A acetylation|histone H4 acetylation|regulation of transcription, DNA-dependent NuA4 histone acetyltransferase complex|nuclear speck ATP binding|DNA binding|helicase activity NS(1)|breast(6)|central_nervous_system(10)|cervix(1)|endometrium(21)|kidney(13)|large_intestine(25)|lung(56)|ovary(5)|prostate(8)|skin(6)|stomach(4)|upper_aerodigestive_tract(2)|urinary_tract(3) 161 all_neural(191;0.0982)|Medulloblastoma(191;0.163) all_epithelial(31;0.198) OV - Ovarian serous cystadenocarcinoma(86;3.01e-08)|Epithelial(86;3.43e-07)|all cancers(50;2.01e-06) GGACTTGGTTCTCATCGACTC 0.502000 4 48 0 0 1 0 0 CLECL1 160365 broad.mit.edu 37 12 9885672 9885672 + Silent SNP G G A TCGA-S5-AA26-01A-11D-A38G-08 TCGA-S5-AA26-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0edef79b-466e-4362-af00-3961ea0d904c ae0ccd07-e2c8-42b5-b900-2ecfda4104d2 g.chr12:9885672G>A ENST00000327839.3 - 1 223 c.189C>T c.(187-189)ttC>ttT p.F63F NM_172004.3 NP_742001.1 Q8IZS7 CLCL1_HUMAN C-type lectin-like 1 63 integral to membrane|plasma membrane sugar binding breast(1)|kidney(1)|large_intestine(4)|lung(3) 9 ATGTCCCACTGAAGGGACAAT 0.438000 27 32 0 0 1 0 0 SNRPA 6626 broad.mit.edu 37 19 41271007 41271007 + Missense_Mutation SNP G G A TCGA-S5-AA26-01A-11D-A38G-08 TCGA-S5-AA26-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0edef79b-466e-4362-af00-3961ea0d904c ae0ccd07-e2c8-42b5-b900-2ecfda4104d2 g.chr19:41271007G>A ENST00000243563.3 + 6 1334 c.784G>A c.(784-786)Gat>Aat p.D262N NM_004596.4 NP_004587.1 P09012 SNRPA_HUMAN small nuclear ribonucleoprotein polypeptide A 262 RRM 2. nucleoplasm|spliceosomal complex nucleotide binding|protein binding|RNA binding central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(3)|ovary(1)|prostate(1)|skin(2) 10 LUSC - Lung squamous cell carcinoma(20;0.000219)|Lung(22;0.000959) GGCAGCTCGCGATGCCCTGCA 0.572000 9 46 0 0 1 0 0 SLC17A2 10246 broad.mit.edu 37 6 25917064 25917064 + Missense_Mutation SNP G G A TCGA-S5-AA26-01A-11D-A38G-08 TCGA-S5-AA26-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0edef79b-466e-4362-af00-3961ea0d904c ae0ccd07-e2c8-42b5-b900-2ecfda4104d2 g.chr6:25917064G>A ENST00000377850.3 - 8 1303 c.779C>T c.(778-780)cCt>cTt p.P260L SLC17A2_ENST00000360488.3_Missense_Mutation_p.P260L|SLC17A2_ENST00000265425.3_Missense_Mutation_p.P260L O00624 NPT3_HUMAN solute carrier family 17, member 2 260 phosphate metabolic process integral to plasma membrane|membrane fraction sodium:phosphate symporter activity endometrium(3)|kidney(1)|large_intestine(9)|lung(12)|ovary(2)|skin(3)|upper_aerodigestive_tract(1) 31 AGCTCGTCCAGGAGAACTGGG 0.502000 24 32 0 0 1 0 0 BRI3BP 140707 broad.mit.edu 37 12 125509639 125509639 + Missense_Mutation SNP C C T TCGA-S5-AA26-01A-11D-A38G-08 TCGA-S5-AA26-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0edef79b-466e-4362-af00-3961ea0d904c ae0ccd07-e2c8-42b5-b900-2ecfda4104d2 g.chr12:125509639C>T ENST00000341446.8 + 3 510 c.419C>T c.(418-420)tCc>tTc p.S140F NM_080626.5 NP_542193.3 Q8WY22 BRI3B_HUMAN BRI3 binding protein 140 integral to membrane|mitochondrial outer membrane large_intestine(1)|lung(8)|ovary(1) 10 all_neural(191;0.101)|Medulloblastoma(191;0.163) OV - Ovarian serous cystadenocarcinoma(86;7.35e-05)|Epithelial(86;0.000426)|all cancers(50;0.00576) TGGTTCTTGTCCCTGACCCTG 0.627000 43 45 0 0 1 0 0 VLDLR 7436 broad.mit.edu 37 9 2645003 2645003 + Missense_Mutation SNP C C G TCGA-S5-AA26-01A-11D-A38G-08 TCGA-S5-AA26-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0edef79b-466e-4362-af00-3961ea0d904c ae0ccd07-e2c8-42b5-b900-2ecfda4104d2 g.chr9:2645003C>G ENST00000382100.3 + 9 1589 c.1233C>G c.(1231-1233)atC>atG p.I411M VLDLR_ENST00000382099.2_Missense_Mutation_p.I411M NM_003383.3 NP_003374.3 P98155 VLDLR_HUMAN very low density lipoprotein receptor EGF-like 2; calcium-binding (Potential). cholesterol metabolic process|endocytosis|lipid transport|memory|very-low-density lipoprotein particle clearance coated pit|integral to membrane|membrane fraction|plasma membrane|very-low-density lipoprotein particle apolipoprotein binding|calcium ion binding|low-density lipoprotein receptor activity|very-low-density lipoprotein particle receptor activity breast(1)|central_nervous_system(2)|endometrium(1)|kidney(3)|large_intestine(6)|lung(5)|ovary(2)|pancreas(1)|prostate(1)|skin(1)|urinary_tract(1) 24 GBM - Glioblastoma multiforme(50;0.0668)|Lung(218;0.123) AAATTTGTATCAACTTAAAAG 0.413000 57 7 0 0 1 0 0 LGI1 9211 broad.mit.edu 37 10 95517911 95517911 + Missense_Mutation SNP G G C TCGA-S5-AA26-01A-11D-A38G-08 TCGA-S5-AA26-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0edef79b-466e-4362-af00-3961ea0d904c ae0ccd07-e2c8-42b5-b900-2ecfda4104d2 g.chr10:95517911G>C ENST00000371418.4 + 1 270 c.10G>C c.(10-12)Gaa>Caa p.E4Q LGI1_ENST00000478763.1_3'UTR|LGI1_ENST00000371413.3_Missense_Mutation_p.E4Q|LGI1_ENST00000542308.1_Missense_Mutation_p.E4Q NM_005097.2 NP_005088.1 O95970 LGI1_HUMAN leucine-rich, glioma inactivated 1 4 axon guidance|cell proliferation|positive regulation of cell growth|positive regulation of synaptic transmission cell junction|extracellular space|synapse receptor binding central_nervous_system(1)|endometrium(1)|large_intestine(6)|lung(18)|ovary(2)|skin(1) 29 Colorectal(252;0.124) CATGGAATCAGAAAGAAGCAA 0.443000 13 19 0 0 1 0 0 CALB1 793 broad.mit.edu 37 8 91094857 91094857 + Missense_Mutation SNP G G C TCGA-S5-AA26-01A-11D-A38G-08 TCGA-S5-AA26-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0edef79b-466e-4362-af00-3961ea0d904c ae0ccd07-e2c8-42b5-b900-2ecfda4104d2 g.chr8:91094857G>C ENST00000265431.3 - 1 250 c.69C>G c.(67-69)ttC>ttG p.F23L NM_004929.2 NP_004920.1 P05937 CALB1_HUMAN calbindin 1, 28kDa 23 EF-hand 1. nucleus calcium ion binding|vitamin D binding breast(1)|kidney(1)|lung(8)|pancreas(1) 11 BRCA - Breast invasive adenocarcinoma(11;0.00953) CGTCAGCGTCGAAATGGAGCC 0.493000 37 38 0 0 1 0 0 ZNF609 23060 broad.mit.edu 37 15 64966956 64966956 + Missense_Mutation SNP G G C TCGA-S5-AA26-01A-11D-A38G-08 TCGA-S5-AA26-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0edef79b-466e-4362-af00-3961ea0d904c ae0ccd07-e2c8-42b5-b900-2ecfda4104d2 g.chr15:64966956G>C ENST00000326648.3 + 4 2031 c.1903G>C c.(1903-1905)Gaa>Caa p.E635Q ZNF609_ENST00000559364.1_3'UTR NM_015042.1 NP_055857.1 O15014 ZN609_HUMAN zinc finger protein 609 635 nucleus zinc ion binding breast(3)|central_nervous_system(2)|endometrium(5)|kidney(1)|large_intestine(9)|lung(11)|ovary(1)|pancreas(1)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1) 39 TATGGAAAAAGAAAAATGTAA 0.438000 30 33 0 0 1 0 0 PRSS33 260429 broad.mit.edu 37 16 2835930 2835930 + Missense_Mutation SNP C C T TCGA-S5-AA26-01A-11D-A38G-08 TCGA-S5-AA26-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0edef79b-466e-4362-af00-3961ea0d904c ae0ccd07-e2c8-42b5-b900-2ecfda4104d2 g.chr16:2835930C>T ENST00000576886.1 - 3 405 c.112G>A c.(112-114)Gtt>Att p.V38I PRSS33_ENST00000293851.5_Missense_Mutation_p.V38I|PRSS33_ENST00000570702.1_Missense_Mutation_p.V38I Q8NF86 PRS33_HUMAN protease, serine, 33 38 Peptidase S1. proteolysis serine-type endopeptidase activity prostate(1) 1 CGGCCCCCAACGATCCGACTG 0.706000 16 9 0 0 1 0 0 STAP2 55620 broad.mit.edu 37 19 4332029 4332029 + Missense_Mutation SNP G G A TCGA-S5-AA26-01A-11D-A38G-08 TCGA-S5-AA26-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0edef79b-466e-4362-af00-3961ea0d904c ae0ccd07-e2c8-42b5-b900-2ecfda4104d2 g.chr19:4332029G>A ENST00000600324.1 - 4 411 c.344C>T c.(343-345)aCg>aTg p.T115M STAP2_ENST00000594605.1_Missense_Mutation_p.T115M NM_017720.2 NP_060190.2 Q9UGK3 STAP2_HUMAN signal transducing adaptor family member 2 115 PH. cytoplasm|nucleus protein binding central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(10) 23 Hepatocellular(1079;0.137) UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.0339)|STAD - Stomach adenocarcinoma(1328;0.18) CTCCACCACCGTTAAGATGAA 0.448000 30 30 0 0 1 0 0 ABCG1 9619 broad.mit.edu 37 21 43645851 43645851 + Missense_Mutation SNP C C T TCGA-S5-AA26-01A-11D-A38G-08 TCGA-S5-AA26-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0edef79b-466e-4362-af00-3961ea0d904c ae0ccd07-e2c8-42b5-b900-2ecfda4104d2 g.chr21:43645851C>T ENST00000398457.2 + 3 379 c.119C>T c.(118-120)tCc>tTc p.S40F ABCG1_ENST00000343687.3_Missense_Mutation_p.S49F|ABCG1_ENST00000347800.2_Missense_Mutation_p.S35F|ABCG1_ENST00000361802.2_Missense_Mutation_p.S38F|ABCG1_ENST00000462050.1_3'UTR|ABCG1_ENST00000398449.3_Missense_Mutation_p.S38F NM_207627.1|NM_207628.1 NP_997510.1|NP_997511.1 P45844 ABCG1_HUMAN ATP-binding cassette, sub-family G (WHITE), member 1 38 amyloid precursor protein catabolic process|cholesterol efflux|cholesterol homeostasis|cholesterol metabolic process|detection of hormone stimulus|high-density lipoprotein particle remodeling|intracellular cholesterol transport|lipoprotein metabolic process|low-density lipoprotein particle remodeling|negative regulation of cholesterol storage|negative regulation of macrophage derived foam cell differentiation|phospholipid efflux|phospholipid homeostasis|positive regulation of cholesterol biosynthetic process|regulation of cholesterol esterification|regulation of transcription, DNA-dependent|response to lipid|reverse cholesterol transport endoplasmic reticulum membrane|external side of plasma membrane|Golgi membrane|recycling endosome ADP binding|ATP binding|cholesterol transporter activity|glycoprotein transporter activity|phospholipid transporter activity|protein heterodimerization activity|protein homodimerization activity|sterol-transporting ATPase activity|toxin transporter activity breast(1)|central_nervous_system(2)|endometrium(4)|kidney(2)|large_intestine(8)|lung(6)|ovary(3)|prostate(2)|stomach(1) 29 Adenosine triphosphate(DB00171) GAGGTGGTGTCCAGCAACATG 0.527000 34 42 0 0 1 0 0 SCAND3 114821 broad.mit.edu 37 6 28554483 28554483 + Silent SNP G G C TCGA-S5-AA26-01A-11D-A38G-08 TCGA-S5-AA26-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0edef79b-466e-4362-af00-3961ea0d904c ae0ccd07-e2c8-42b5-b900-2ecfda4104d2 g.chr6:28554483G>C ENST00000452236.2 - 1 629 c.12C>G c.(10-12)gtC>gtG p.V4V SCAND3_ENST00000530247.1_Intron NM_052923.1 NP_443155.1 Q6R2W3 SCND3_HUMAN SCAN domain containing 3 4 DNA integration|viral reproduction nucleus DNA binding|protein dimerization activity|sequence-specific DNA binding transcription factor activity NS(3)|autonomic_ganglia(1)|breast(5)|central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(14)|liver(1)|lung(29)|ovary(2)|prostate(1)|skin(6)|upper_aerodigestive_tract(3) 71 AGACCCTAGAGACTGCTTCCA 0.483000 11 19 0 0 1 0 0 PHF1 5252 broad.mit.edu 37 6 33383673 33383673 + Missense_Mutation SNP C C T TCGA-S5-AA26-01A-11D-A38G-08 TCGA-S5-AA26-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0edef79b-466e-4362-af00-3961ea0d904c ae0ccd07-e2c8-42b5-b900-2ecfda4104d2 g.chr6:33383673C>T ENST00000374516.3 + 15 1773 c.1502C>T c.(1501-1503)tCa>tTa p.S501L PHF1_ENST00000374512.3_3'UTR NM_024165.2 NP_077084.1 O43189 PHF1_HUMAN PHD finger protein 1 501 chromatin modification nucleus nucleic acid binding|sequence-specific DNA binding transcription factor activity|zinc ion binding endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(1)|lung(5)|ovary(2)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1) 19 Ovarian(999;0.0443) TCCTCAGTTTCATCCCCATCC 0.582000 60 75 0 0 1 0 0 COL5A3 50509 broad.mit.edu 37 19 10084626 10084626 + Missense_Mutation SNP G G T TCGA-S5-AA26-01A-11D-A38G-08 TCGA-S5-AA26-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0edef79b-466e-4362-af00-3961ea0d904c ae0ccd07-e2c8-42b5-b900-2ecfda4104d2 g.chr19:10084626G>T ENST00000264828.3 - 48 3612 c.3527C>A c.(3526-3528)cCt>cAt p.P1176H NM_015719.3 NP_056534.2 P25940 CO5A3_HUMAN collagen, type V, alpha 3 1176 Triple-helical region. collagen fibril organization|skin development collagen type V collagen binding|extracellular matrix structural constituent NS(2)|breast(3)|central_nervous_system(2)|endometrium(11)|kidney(23)|large_intestine(12)|liver(2)|lung(35)|ovary(8)|prostate(5)|skin(10)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 116 Epithelial(33;7.11e-05) GGGACCCCGAGGACCTGGAGC 0.582000 39 35 3.62531e-18 3.86854e-18 1 1 0 FUT5 2527 broad.mit.edu 37 19 5866949 5866949 + Missense_Mutation SNP G G C TCGA-S5-AA26-01A-11D-A38G-08 TCGA-S5-AA26-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0edef79b-466e-4362-af00-3961ea0d904c ae0ccd07-e2c8-42b5-b900-2ecfda4104d2 g.chr19:5866949G>C ENST00000252675.5 - 5 1350 c.788C>G c.(787-789)tCc>tGc p.S263C FUT5_ENST00000588525.1_Missense_Mutation_p.S263C Q11128 FUT5_HUMAN fucosyltransferase 5 (alpha (1,3) fucosyltransferase) 263 L-fucose catabolic process|protein glycosylation Golgi cisterna membrane|integral to membrane 3-galactosyl-N-acetylglucosaminide 4-alpha-L-fucosyltransferase activity|alpha(1,3)-fucosyltransferase activity central_nervous_system(1)|endometrium(1)|large_intestine(1)|lung(8)|upper_aerodigestive_tract(1) 12 GGGGTGCAAGGAGTTCTCGAA 0.627000 33 30 0 0 1 0 0 ZEB1 6935 broad.mit.edu 37 10 31809830 31809830 + Missense_Mutation SNP G G C rs35708848 TCGA-S5-AA26-01A-11D-A38G-08 TCGA-S5-AA26-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0edef79b-466e-4362-af00-3961ea0d904c ae0ccd07-e2c8-42b5-b900-2ecfda4104d2 g.chr10:31809830G>C ENST00000446923.2 + 7 1910 c.1519G>C c.(1519-1521)Gaa>Caa p.E507Q ZEB1_ENST00000542815.3_Missense_Mutation_p.E456Q|ZEB1_ENST00000361642.5_Missense_Mutation_p.E524Q|ZEB1_ENST00000560721.2_Missense_Mutation_p.E503Q|ZEB1_ENST00000559858.1_3'UTR|ZEB1_ENST00000320985.10_Missense_Mutation_p.E523Q NM_001128128.2|NM_001174094.1 NP_001121600.1|NP_001167565.1 P37275 ZEB1_HUMAN zinc finger E-box binding homeobox 1 523 cell proliferation|immune response|negative regulation of transcription from RNA polymerase II promoter|positive regulation of neuron differentiation cytoplasm E-box binding|sequence-specific DNA binding transcription factor activity|transcription coactivator activity|transcription corepressor activity|zinc ion binding NS(2)|breast(4)|central_nervous_system(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(14)|lung(38)|ovary(3)|skin(6)|upper_aerodigestive_tract(4) 77 Prostate(175;0.0156) CAAAAGCTTTGAAGGGGGGGT 0.373000 11 70 0 0 1 0 0 ZNF181 339318 broad.mit.edu 37 19 35230481 35230481 + Missense_Mutation SNP G G C TCGA-S5-AA26-01A-11D-A38G-08 TCGA-S5-AA26-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0edef79b-466e-4362-af00-3961ea0d904c ae0ccd07-e2c8-42b5-b900-2ecfda4104d2 g.chr19:35230481G>C ENST00000392232.3 + 5 484 c.316G>C c.(316-318)Gag>Cag p.E106Q ZNF181_ENST00000459757.2_Missense_Mutation_p.E61Q|ZNF181_ENST00000492450.1_Missense_Mutation_p.E62Q Q2M3W8 ZN181_HUMAN zinc finger protein 181 62 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding endometrium(6)|kidney(2)|large_intestine(1)|lung(7)|ovary(2)|prostate(3)|skin(1) 22 all_lung(56;1.13e-07)|Lung NSC(56;1.81e-07)|Esophageal squamous(110;0.162) LUSC - Lung squamous cell carcinoma(66;0.138) GGATGGAAAAGAGCCCTGGAT 0.408000 27 34 0 0 1 0 0 CCDC149 91050 broad.mit.edu 37 4 24875309 24875309 + Missense_Mutation SNP C C G TCGA-S5-AA26-01A-11D-A38G-08 TCGA-S5-AA26-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0edef79b-466e-4362-af00-3961ea0d904c ae0ccd07-e2c8-42b5-b900-2ecfda4104d2 g.chr4:24875309C>G ENST00000504487.1 - 3 264 c.258G>C c.(256-258)agG>agC p.R86S CCDC149_ENST00000502801.1_Missense_Mutation_p.R86S|CCDC149_ENST00000389609.4_Missense_Mutation_p.R86S|CCDC149_ENST00000428116.2_Missense_Mutation_p.R31S NM_001130726.2 NP_001124198.1 B4DZG3 B4DZG3_HUMAN coiled-coil domain containing 149 86 cervix(1)|endometrium(1)|large_intestine(2)|lung(3) 7 Breast(46;0.173) TTACCTGTTTCCTTTTTTCAG 0.338000 12 4 0 0 1 0 0 MCU 90550 broad.mit.edu 37 10 74619100 74619100 + Missense_Mutation SNP C C T TCGA-S5-AA26-01A-11D-A38G-08 TCGA-S5-AA26-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0edef79b-466e-4362-af00-3961ea0d904c ae0ccd07-e2c8-42b5-b900-2ecfda4104d2 g.chr10:74619100C>T ENST00000536019.1 + 3 684 c.239C>T c.(238-240)tCa>tTa p.S80L MCU_ENST00000357157.6_Missense_Mutation_p.S129L|MCU_ENST00000373053.3_Missense_Mutation_p.S129L NM_001270680.1 NP_001257609.1 Q8NE86 MCU_HUMAN mitochondrial calcium uniporter 129 elevation of mitochondrial calcium ion concentration|mitochondrial calcium ion transport|protein complex oligomerization integral to membrane|mitochondrial inner membrane protein binding endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(7)|urinary_tract(1) 14 GCTATCTATTCACCAGGTATA 0.423000 48 44 0 0 1 0 0 EP400 57634 broad.mit.edu 37 12 132472265 132472265 + Nonsense_Mutation SNP C C T TCGA-S5-AA26-01A-11D-A38G-08 TCGA-S5-AA26-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0edef79b-466e-4362-af00-3961ea0d904c ae0ccd07-e2c8-42b5-b900-2ecfda4104d2 g.chr12:132472265C>T ENST00000333577.4 + 8 2456 c.2347C>T c.(2347-2349)Cag>Tag p.Q783* EP400_ENST00000332482.4_Nonsense_Mutation_p.Q710*|EP400_ENST00000389562.2_Nonsense_Mutation_p.Q746*|EP400_ENST00000389561.2_Nonsense_Mutation_p.Q747*|EP400_ENST00000330386.6_Nonsense_Mutation_p.Q747* Q96L91 EP400_HUMAN E1A binding protein p400 783 histone H2A acetylation|histone H4 acetylation|regulation of transcription, DNA-dependent NuA4 histone acetyltransferase complex|nuclear speck ATP binding|DNA binding|helicase activity NS(1)|breast(6)|central_nervous_system(10)|cervix(1)|endometrium(21)|kidney(13)|large_intestine(25)|lung(56)|ovary(5)|prostate(8)|skin(6)|stomach(4)|upper_aerodigestive_tract(2)|urinary_tract(3) 161 all_neural(191;0.0982)|Medulloblastoma(191;0.163) all_epithelial(31;0.198) OV - Ovarian serous cystadenocarcinoma(86;3.01e-08)|Epithelial(86;3.43e-07)|all cancers(50;2.01e-06) CCAGGTGCATCAGCGCATTGC 0.577000 18 19 0 0 1 0 0 FGF19 9965 broad.mit.edu 37 11 69518060 69518060 + Missense_Mutation SNP C C G TCGA-S5-AA26-01A-11D-A38G-08 TCGA-S5-AA26-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0edef79b-466e-4362-af00-3961ea0d904c ae0ccd07-e2c8-42b5-b900-2ecfda4104d2 g.chr11:69518060C>G ENST00000294312.3 - 2 1070 c.305G>C c.(304-306)tGc>tCc p.C102S NM_005117.2 NP_005108.1 O95750 FGF19_HUMAN fibroblast growth factor 19 102 fibroblast growth factor receptor signaling pathway|insulin receptor signaling pathway|negative regulation of bile acid biosynthetic process|nervous system development|positive regulation of cell proliferation|positive regulation of ERK1 and ERK2 cascade|positive regulation of glucose import|positive regulation of JNK cascade extracellular region fibroblast growth factor receptor binding|growth factor activity large_intestine(2)|lung(2)|skin(2) 6 all_cancers(3;5.53e-114)|all_epithelial(3;1.34e-121)|Breast(3;9.28e-34)|all_lung(4;1.99e-21)|Lung NSC(4;4.65e-21)|Hepatocellular(3;6.15e-15)|Melanoma(5;1.89e-05)|Ovarian(3;0.0348) Epithelial(3;3.05e-56)|all cancers(3;2.69e-50)|Lung(3;1.13e-16)|LUSC - Lung squamous cell carcinoma(11;3.74e-15)|STAD - Stomach adenocarcinoma(18;0.0278)|LUAD - Lung adenocarcinoma(13;0.0537) GGCGCCCATGCAGAGGTACCG 0.697000 20 502 0 0 1 0 0 TRIM24 8805 broad.mit.edu 37 7 138262239 138262239 + Missense_Mutation SNP G G A TCGA-S5-AA26-01A-11D-A38G-08 TCGA-S5-AA26-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0edef79b-466e-4362-af00-3961ea0d904c ae0ccd07-e2c8-42b5-b900-2ecfda4104d2 g.chr7:138262239G>A ENST00000343526.4 + 14 2377 c.2162G>A c.(2161-2163)cGa>cAa p.R721Q TRIM24_ENST00000415680.2_Missense_Mutation_p.R687Q O15164 TIF1A_HUMAN tripartite motif containing 24 721 cellular response to estrogen stimulus|protein catabolic process|regulation of apoptosis|regulation of protein stability|transcription from RNA polymerase II promoter cytoplasm chromatin binding|estrogen response element binding|histone acetyl-lysine binding|p53 binding|transcription coactivator activity|ubiquitin-protein ligase activity|zinc ion binding breast(2)|central_nervous_system(5)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(7)|lung(12)|ovary(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(3) 40 GAGCCAATTCGAATAAAACAA 0.418000 33 38 0 0 1 0 0 DDX21 9188 broad.mit.edu 37 10 70719909 70719909 + Silent SNP G G A TCGA-S5-AA26-01A-11D-A38G-08 TCGA-S5-AA26-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0edef79b-466e-4362-af00-3961ea0d904c ae0ccd07-e2c8-42b5-b900-2ecfda4104d2 g.chr10:70719909G>A ENST00000354185.4 + 2 533 c.435G>A c.(433-435)gaG>gaA p.E145E NM_001256910.1|NM_004728.3 NP_001243839.1|NP_004719.2 Q9NR30 DDX21_HUMAN DEAD (Asp-Glu-Ala-Asp) box helicase 21 145 nucleolus ATP binding|ATP-dependent RNA helicase activity|protein binding|RNA binding breast(1)|endometrium(2)|kidney(3)|large_intestine(4)|lung(6)|ovary(2)|stomach(1)|upper_aerodigestive_tract(1) 20 AAACTAGAGAGAAAAGCCCCA 0.423000 33 22 0 0 1 0 0 RPLP0 6175 broad.mit.edu 37 12 120637269 120637269 + Missense_Mutation SNP G G A TCGA-S5-AA26-01A-11D-A38G-08 TCGA-S5-AA26-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0edef79b-466e-4362-af00-3961ea0d904c ae0ccd07-e2c8-42b5-b900-2ecfda4104d2 g.chr12:120637269G>A ENST00000551150.1 - 2 389 c.74C>T c.(73-75)cCg>cTg p.P25L RPLP0_ENST00000392514.4_Missense_Mutation_p.P25L|RPLP0_ENST00000313104.5_Missense_Mutation_p.P25L|RPLP0_ENST00000228306.4_Missense_Mutation_p.P25L|RPLP0_ENST00000550296.1_5'UTR|RPLP0_ENST00000546989.1_Missense_Mutation_p.P25L P05388 RLA0_HUMAN ribosomal protein, large, P0 25 endocrine pancreas development|interspecies interaction between organisms|ribosome biogenesis|translational elongation|translational termination|viral transcription cytosolic large ribosomal subunit|nucleus protein binding|RNA binding|structural constituent of ribosome breast(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(7)|ovary(1)|prostate(1) 15 all_neural(191;0.0804)|Medulloblastoma(191;0.0922) GAAACATTTCGGATAATCATC 0.478000 12 19 0 0 1 0 0 CREM 1390 broad.mit.edu 37 10 35467886 35467886 + Missense_Mutation SNP G G C TCGA-S5-AA26-01A-11D-A38G-08 TCGA-S5-AA26-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0edef79b-466e-4362-af00-3961ea0d904c ae0ccd07-e2c8-42b5-b900-2ecfda4104d2 g.chr10:35467886G>C ENST00000333809.8 + 4 439 c.385G>C c.(385-387)Gaa>Caa p.E129Q CREM_ENST00000374734.3_Missense_Mutation_p.E80Q|CREM_ENST00000348787.2_Missense_Mutation_p.E64Q|CREM_ENST00000374728.3_Missense_Mutation_p.E64Q|CREM_ENST00000337656.4_Missense_Mutation_p.E80Q|CREM_ENST00000463314.1_Intron|CREM_ENST00000395895.2_Missense_Mutation_p.E129Q|CREM_ENST00000474362.1_Intron|CREM_ENST00000361599.4_Missense_Mutation_p.E50Q|CREM_ENST00000489321.1_Missense_Mutation_p.E64Q|CREM_ENST00000460270.1_Intron|CREM_ENST00000439705.1_Missense_Mutation_p.E129Q|CREM_ENST00000374726.3_Missense_Mutation_p.E64Q|CREM_ENST00000489388.1_3'UTR|CREM_ENST00000429130.3_Missense_Mutation_p.E113Q|CREM_ENST00000342105.3_Missense_Mutation_p.E25Q|CREM_ENST00000354759.3_Missense_Mutation_p.E80Q|CREM_ENST00000479070.1_Missense_Mutation_p.E80Q|CREM_ENST00000484283.1_Missense_Mutation_p.E50Q|CREM_ENST00000463960.1_Missense_Mutation_p.E25Q|CREM_ENST00000395887.3_Missense_Mutation_p.E50Q|CREM_ENST00000374721.3_Missense_Mutation_p.E113Q|CREM_ENST00000345491.3_Missense_Mutation_p.E80Q NM_183011.1 NP_898829.1 Q03060 CREM_HUMAN cAMP responsive element modulator 129 KID. cell differentiation|multicellular organismal development|signal transduction|spermatogenesis nucleus cAMP response element binding protein binding|protein binding|protein dimerization activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity NS(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(7)|prostate(1) 14 TAAACGTAGAGAAATCCTTTC 0.318000 17 26 0 0 1 0 0 ZBTB17 7709 broad.mit.edu 37 1 16269033 16269033 + Nonsense_Mutation SNP G G A TCGA-S5-AA26-01A-11D-A38G-08 TCGA-S5-AA26-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0edef79b-466e-4362-af00-3961ea0d904c ae0ccd07-e2c8-42b5-b900-2ecfda4104d2 g.chr1:16269033G>A ENST00000375733.2 - 14 2267 c.2029C>T c.(2029-2031)Cag>Tag p.Q677* ZBTB17_ENST00000375743.4_Nonsense_Mutation_p.Q677*|ZBTB17_ENST00000537142.1_Nonsense_Mutation_p.Q595* Q13105 ZBT17_HUMAN zinc finger and BTB domain containing 17 677 Interaction with HCFC1.|Interaction with MYC. negative regulation of cell cycle nucleus DNA binding|protein binding|sequence-specific DNA binding transcription factor activity|zinc ion binding breast(2)|endometrium(4)|large_intestine(1)|lung(4)|ovary(2)|prostate(2) 15 Colorectal(325;0.000257)|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;0.0182)|Colorectal(212;4.12e-07)|COAD - Colon adenocarcinoma(227;2.43e-05)|BRCA - Breast invasive adenocarcinoma(304;9.97e-05)|Kidney(64;0.000182)|KIRC - Kidney renal clear cell carcinoma(64;0.00269)|STAD - Stomach adenocarcinoma(313;0.012)|READ - Rectum adenocarcinoma(331;0.0649) CCTGTGAGCTGAGTGACGGCT 0.647000 23 30 0 0 1 0 0 WNT9A 7483 broad.mit.edu 37 1 228111900 228111900 + Missense_Mutation SNP C C T TCGA-S5-AA26-01A-11D-A38G-08 TCGA-S5-AA26-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0edef79b-466e-4362-af00-3961ea0d904c ae0ccd07-e2c8-42b5-b900-2ecfda4104d2 g.chr1:228111900C>T ENST00000272164.5 - 3 564 c.554G>A c.(553-555)aGa>aAa p.R185K NM_003395.2 NP_003386.1 O14904 WNT9A_HUMAN wingless-type MMTV integration site family, member 9A 185 anterior/posterior pattern formation|axis specification|canonical Wnt receptor signaling pathway|cell-cell signaling|cellular response to retinoic acid|cornea development in camera-type eye|embryonic arm morphogenesis|embryonic skeletal joint morphogenesis|endoderm development|iris morphogenesis|mitotic cell cycle G1/S transition checkpoint|negative regulation of cell proliferation|negative regulation of chondrocyte differentiation|neuron differentiation|positive regulation of smoothened signaling pathway|Wnt receptor signaling pathway, calcium modulating pathway extracellular space|plasma membrane|proteinaceous extracellular matrix extracellular matrix structural constituent|G-protein-coupled receptor binding|signal transducer activity breast(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(5)|ovary(2)|pancreas(1)|prostate(2)|skin(1) 19 Prostate(94;0.0405) GCTTGACCGTCTGCCCAGGAA 0.622000 84 7 0 0 1 0 0 SIGLEC10 89790 broad.mit.edu 37 19 51918503 51918503 + Missense_Mutation SNP C C G TCGA-S5-AA26-01A-11D-A38G-08 TCGA-S5-AA26-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0edef79b-466e-4362-af00-3961ea0d904c ae0ccd07-e2c8-42b5-b900-2ecfda4104d2 g.chr19:51918503C>G ENST00000353836.5 - 7 1483 c.1262G>C c.(1261-1263)gGa>gCa p.G421A SIGLEC10_ENST00000441969.3_Missense_Mutation_p.G363A|SIGLEC10_ENST00000436984.2_Missense_Mutation_p.G373A|SIGLEC10_ENST00000442846.3_Missense_Mutation_p.G273A|SIGLEC10_ENST00000432469.2_Missense_Mutation_p.G338A|SIGLEC10_ENST00000439889.2_Missense_Mutation_p.G363A|SIGLEC10_ENST00000525998.1_Missense_Mutation_p.G331A|SIGLEC10_ENST00000339313.5_Missense_Mutation_p.G421A|SIGLEC10_ENST00000356298.5_Missense_Mutation_p.G421A NM_001171157.1|NM_001171158.1|NM_001171159.1 NP_001164628.1|NP_001164629.1|NP_001164630.1 Q96LC7 SIG10_HUMAN sialic acid binding Ig-like lectin 10 421 Ig-like C2-type 3. cell adhesion extracellular region|integral to membrane|plasma membrane sugar binding breast(1)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(1)|large_intestine(10)|lung(27)|ovary(1)|prostate(1)|skin(5)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 58 all_neural(266;0.0199) GBM - Glioblastoma multiforme(134;0.000668)|OV - Ovarian serous cystadenocarcinoma(262;0.0101) GGTGAACTCTCCTTCGTGCTC 0.667000 18 102 0 0 1 0 0 NOC3L 64318 broad.mit.edu 37 10 96117846 96117846 + Missense_Mutation SNP G G A TCGA-S5-AA26-01A-11D-A38G-08 TCGA-S5-AA26-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0edef79b-466e-4362-af00-3961ea0d904c ae0ccd07-e2c8-42b5-b900-2ecfda4104d2 g.chr10:96117846G>A ENST00000371361.3 - 3 444 c.344C>T c.(343-345)tCt>tTt p.S115F NOC3L_ENST00000463649.1_5'UTR|NOC3L_ENST00000371350.1_Missense_Mutation_p.S115F NM_022451.9 NP_071896.8 Q8WTT2 NOC3L_HUMAN nucleolar complex associated 3 homolog (S. cerevisiae) 115 nuclear speck|nucleolus binding endometrium(3)|large_intestine(17)|lung(5)|ovary(1)|skin(2)|stomach(1) 29 Colorectal(252;0.0897) TTACCTAGAAGAAAGATCTCT 0.333000 53 75 0 0 1 0 0 ZFYVE26 23503 broad.mit.edu 37 14 68215296 68215296 + Missense_Mutation SNP C C G TCGA-S5-AA26-01A-11D-A38G-08 TCGA-S5-AA26-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0edef79b-466e-4362-af00-3961ea0d904c ae0ccd07-e2c8-42b5-b900-2ecfda4104d2 g.chr14:68215296C>G ENST00000347230.4 - 42 7615 c.7477G>C c.(7477-7479)Gaa>Caa p.E2493Q NM_015346.3 NP_056161.2 Q68DK2 ZFY26_HUMAN zinc finger, FYVE domain containing 26 2493 cell cycle|cell death|cytokinesis|double-strand break repair via homologous recombination centrosome|midbody metal ion binding|phosphatidylinositol-3-phosphate binding|protein binding NS(1)|breast(3)|cervix(1)|endometrium(6)|kidney(8)|large_intestine(8)|lung(39)|ovary(12)|pancreas(1)|prostate(7)|skin(3)|stomach(1)|upper_aerodigestive_tract(4) 94 all cancers(60;0.000763)|OV - Ovarian serous cystadenocarcinoma(108;0.0011)|BRCA - Breast invasive adenocarcinoma(234;0.0115) CGTGAGTGTTCTTGCTTCACA 0.557000 28 43 0 0 1 0 0 CAPS2 84698 broad.mit.edu 37 12 75698550 75698550 + Missense_Mutation SNP G G C TCGA-S5-AA26-01A-11D-A38G-08 TCGA-S5-AA26-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0edef79b-466e-4362-af00-3961ea0d904c ae0ccd07-e2c8-42b5-b900-2ecfda4104d2 g.chr12:75698550G>C ENST00000393284.3 - 8 728 c.127C>G c.(127-129)Cta>Gta p.L43V CAPS2_ENST00000409004.1_5'UTR|CAPS2_ENST00000409445.3_Missense_Mutation_p.L275V|CAPS2_ENST00000442339.2_5'UTR|CAPS2_ENST00000409799.1_Missense_Mutation_p.L225V Q9BXY5 CAYP2_HUMAN calcyphosine 2 275 calcium ion binding endometrium(2)|large_intestine(1)|lung(4)|ovary(2)|skin(1) 10 GTTTCATGTAGTGTTCTTTTT 0.323000 6 38 0 0 1 0 0 ACAN 176 broad.mit.edu 37 15 89382244 89382244 + Missense_Mutation SNP G G T TCGA-S5-AA26-01A-11D-A38G-08 TCGA-S5-AA26-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0edef79b-466e-4362-af00-3961ea0d904c ae0ccd07-e2c8-42b5-b900-2ecfda4104d2 g.chr15:89382244G>T ENST00000439576.2 + 3 795 c.421G>T c.(421-423)Gac>Tac p.D141Y ACAN_ENST00000352105.7_Missense_Mutation_p.D141Y|ACAN_ENST00000559004.1_Missense_Mutation_p.D141Y|ACAN_ENST00000558207.1_Missense_Mutation_p.D141Y|ACAN_ENST00000561243.1_Missense_Mutation_p.D141Y NM_013227.3 NP_037359.3 E7EX88 E7EX88_HUMAN aggrecan 141 cell adhesion hyaluronic acid binding|sugar binding NS(1)|central_nervous_system(4)|cervix(1)|endometrium(3)|kidney(4)|large_intestine(15)|liver(2)|lung(40)|ovary(2)|prostate(5)|skin(5)|stomach(8)|upper_aerodigestive_tract(1)|urinary_tract(2) 93 Lung NSC(78;0.0392)|all_lung(78;0.077) BRCA - Breast invasive adenocarcinoma(143;0.146) TGGCATCGAGGACAGCGAGGC 0.607000 4 86 0.00909568 0.00915047 1 1 0 DOPEY2 9980 broad.mit.edu 37 21 37571393 37571393 + Missense_Mutation SNP C C G TCGA-S5-AA26-01A-11D-A38G-08 TCGA-S5-AA26-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0edef79b-466e-4362-af00-3961ea0d904c ae0ccd07-e2c8-42b5-b900-2ecfda4104d2 g.chr21:37571393C>G ENST00000399151.3 + 3 249 c.164C>G c.(163-165)tCc>tGc p.S55C DOPEY2_ENST00000492760.1_Intron NM_005128.2 NP_005119.2 Q9Y3R5 DOP2_HUMAN dopey family member 2 55 endoplasmic reticulum organization|Golgi to endosome transport|multicellular organismal development|protein transport Golgi membrane autonomic_ganglia(1)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(5)|kidney(5)|large_intestine(6)|lung(25)|ovary(2)|prostate(3)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 58 CTGAGGTACTCCTTGTTGCCA 0.478000 35 39 0 0 1 0 0 ATM 472 broad.mit.edu 37 11 108202678 108202678 + Missense_Mutation SNP A A G TCGA-S5-AA26-01A-11D-A38G-08 TCGA-S5-AA26-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0edef79b-466e-4362-af00-3961ea0d904c ae0ccd07-e2c8-42b5-b900-2ecfda4104d2 g.chr11:108202678A>G ENST00000278616.4 + 52 8087 c.7702A>G c.(7702-7704)Aga>Gga p.R2568G ATM_ENST00000452508.2_Missense_Mutation_p.R2568G|C11orf65_ENST00000525729.1_Intron NM_000051.3 NP_000042 Q13315 ATM_HUMAN ataxia telangiectasia mutated 2568 cell cycle arrest|cellular response to gamma radiation|DNA damage induced protein phosphorylation|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|double-strand break repair via homologous recombination|G2/M transition DNA damage checkpoint|histone mRNA catabolic process|mitotic cell cycle spindle assembly checkpoint|negative regulation of B cell proliferation|peptidyl-serine phosphorylation|positive regulation of DNA damage response, signal transduction by p53 class mediator|pre-B cell allelic exclusion|protein autophosphorylation|reciprocal meiotic recombination|replicative senescence cytoplasmic membrane-bounded vesicle|nucleoplasm 1-phosphatidylinositol-3-kinase activity|ATP binding|DNA binding|DNA-dependent protein kinase activity|identical protein binding|protein complex binding|protein dimerization activity|protein N-terminus binding NS(4)|breast(23)|central_nervous_system(11)|endometrium(10)|haematopoietic_and_lymphoid_tissue(227)|kidney(19)|large_intestine(53)|liver(5)|lung(62)|ovary(6)|pancreas(4)|prostate(13)|skin(4)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(3) 448 all_cancers(61;9.64e-12)|all_epithelial(67;9.97e-08)|Melanoma(852;2.55e-06)|Acute lymphoblastic leukemia(157;3.95e-05)|all_hematologic(158;0.00014)|Breast(348;0.0258)|all_neural(303;0.072) Epithelial(105;9.05e-06)|BRCA - Breast invasive adenocarcinoma(274;1.06e-05)|all cancers(92;0.000208)|Colorectal(284;0.116)|OV - Ovarian serous cystadenocarcinoma(223;0.147) AAATGCAAACAGAGATGAATT 0.353000 """D, Mis, N, F, S""" T-PLL """leukemia, lymphoma, medulloblastoma, glioma""" Genes defective in diseases associated with sensitivity to DNA damaging agents Ataxia Telangiectasia TSP Lung(14;0.12) 51 40 0 0 1 0 0 CHD9 80205 broad.mit.edu 37 16 53337976 53337976 + Missense_Mutation SNP C C G TCGA-S5-AA26-01A-11D-A38G-08 TCGA-S5-AA26-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0edef79b-466e-4362-af00-3961ea0d904c ae0ccd07-e2c8-42b5-b900-2ecfda4104d2 g.chr16:53337976C>G ENST00000566029.1 + 31 6267 c.6058C>G c.(6058-6060)Caa>Gaa p.Q2020E CHD9_ENST00000398510.3_Missense_Mutation_p.Q2020E|CHD9_ENST00000564845.1_Missense_Mutation_p.Q2020E|CHD9_ENST00000447540.1_Missense_Mutation_p.Q2020E Q3L8U1 CHD9_HUMAN chromodomain helicase DNA binding protein 9 2020 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) ACAGCAATATCAAGTAGCACT 0.408000 25 65 0 0 1 0 0 OR51F2 119694 broad.mit.edu 37 11 4843356 4843356 + Silent SNP G G A TCGA-S5-AA26-01A-11D-A38G-08 TCGA-S5-AA26-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0edef79b-466e-4362-af00-3961ea0d904c ae0ccd07-e2c8-42b5-b900-2ecfda4104d2 g.chr11:4843356G>A ENST00000322110.5 + 1 806 c.741G>A c.(739-741)gaG>gaA p.E247E MMP26_ENST00000380390.1_Intron|MMP26_ENST00000477339.1_Intron NM_001004753.1 NP_001004753.1 Q8NH61 O51F2_HUMAN olfactory receptor, family 51, subfamily F, member 2 247 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity breast(2)|endometrium(4)|large_intestine(3)|lung(16)|ovary(1)|pancreas(1)|prostate(4)|skin(2) 33 Medulloblastoma(188;0.0075)|all_neural(188;0.0577)|Breast(177;0.0778) Epithelial(150;5.06e-12)|BRCA - Breast invasive adenocarcinoma(625;0.00438)|LUSC - Lung squamous cell carcinoma(625;0.19) CCTCAGAAGAGAGGCGGAAAG 0.493000 31 2 0 0 1 0 0 CACNG3 10368 broad.mit.edu 37 16 24373076 24373076 + Silent SNP C C G TCGA-S5-AA26-01A-11D-A38G-08 TCGA-S5-AA26-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0edef79b-466e-4362-af00-3961ea0d904c ae0ccd07-e2c8-42b5-b900-2ecfda4104d2 g.chr16:24373076C>G ENST00000005284.3 + 4 2042 c.840C>G c.(838-840)ctC>ctG p.L280L NM_006539.3 NP_006530.1 O60359 CCG3_HUMAN calcium channel, voltage-dependent, gamma subunit 3 280 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) GGACCCTCCTCAACTCCGACC 0.552000 30 43 0 0 1 0 0 PPP2R5C 5527 broad.mit.edu 37 14 102348558 102348558 + Missense_Mutation SNP G G A TCGA-S5-AA26-01A-11D-A38G-08 TCGA-S5-AA26-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0edef79b-466e-4362-af00-3961ea0d904c ae0ccd07-e2c8-42b5-b900-2ecfda4104d2 g.chr14:102348558G>A ENST00000422945.2 + 5 544 c.448G>A c.(448-450)Gac>Aac p.D150N PPP2R5C_ENST00000328724.5_Missense_Mutation_p.D174N|PPP2R5C_ENST00000334743.5_Missense_Mutation_p.D119N|PPP2R5C_ENST00000557095.1_Missense_Mutation_p.D119N|PPP2R5C_ENST00000445439.3_Missense_Mutation_p.D119N|PPP2R5C_ENST00000350249.3_Missense_Mutation_p.D119N NM_001161725.1 NP_001155197.1 Q13362 2A5G_HUMAN protein phosphatase 2, regulatory subunit B', gamma 119 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|negative regulation of cell proliferation|proteasomal ubiquitin-dependent protein catabolic process|signal transduction chromosome, centromeric region|nucleus|protein phosphatase type 2A complex protein binding|protein phosphatase type 2A regulator activity breast(2)|endometrium(2)|kidney(1)|large_intestine(3)|lung(6)|ovary(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1) 20 AGCGGAATTTGACCCGGAGGA 0.468000 8 24 0 0 1 0 0 BCLAF1 9774 broad.mit.edu 37 6 136597369 136597369 + Missense_Mutation SNP C C G TCGA-S5-AA26-01A-11D-A38G-08 TCGA-S5-AA26-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0edef79b-466e-4362-af00-3961ea0d904c ae0ccd07-e2c8-42b5-b900-2ecfda4104d2 g.chr6:136597369C>G ENST00000531224.1 - 5 1546 c.1294G>C c.(1294-1296)Gag>Cag p.E432Q BCLAF1_ENST00000392348.2_Missense_Mutation_p.E430Q|BCLAF1_ENST00000527536.1_Missense_Mutation_p.E432Q|BCLAF1_ENST00000527759.1_Missense_Mutation_p.E430Q|BCLAF1_ENST00000353331.4_Missense_Mutation_p.E430Q|BCLAF1_ENST00000530767.1_Intron NM_001077441.1|NM_014739.2 NP_001070909.1|NP_055554.1 Q9NYF8 BCLF1_HUMAN BCL2-associated transcription factor 1 432 induction of apoptosis|negative regulation of transcription, DNA-dependent|transcription, DNA-dependent cytoplasm|nucleolus DNA binding|protein binding haematopoietic_and_lymphoid_tissue(3)|large_intestine(4)|ovary(1)|skin(1) 9 Colorectal(23;0.24) GBM - Glioblastoma multiforme(68;0.00226)|OV - Ovarian serous cystadenocarcinoma(155;0.00331) CCTTCCTCCTCAGTATTCCGG 0.413000 21 199 0 0 1 0 0 RABL6 55684 broad.mit.edu 37 9 139734253 139734253 + Silent SNP G G A TCGA-S5-AA26-01A-11D-A38G-08 TCGA-S5-AA26-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0edef79b-466e-4362-af00-3961ea0d904c ae0ccd07-e2c8-42b5-b900-2ecfda4104d2 g.chr9:139734253G>A ENST00000371675.3 + 13 2406 c.1521G>A c.(1519-1521)aaG>aaA p.K507K RABL6_ENST00000311502.7_Silent_p.K622K|RABL6_ENST00000357466.2_Intron|RABL6_ENST00000432842.2_3'UTR|RABL6_ENST00000371663.4_Silent_p.K623K RAB, member RAS oncogene family-like 6 TCAGACTGAAGAATGACTCGG 0.672000 13 1 0 0 1 0 0 GNB2L1 10399 broad.mit.edu 37 5 180665127 180665127 + Missense_Mutation SNP G G C TCGA-S5-AA26-01A-11D-A38G-08 TCGA-S5-AA26-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0edef79b-466e-4362-af00-3961ea0d904c ae0ccd07-e2c8-42b5-b900-2ecfda4104d2 g.chr5:180665127G>C ENST00000512805.1 - 6 1157 c.749C>G c.(748-750)gCt>gGt p.A250G GNB2L1_ENST00000514455.1_Missense_Mutation_p.A34G|GNB2L1_ENST00000504726.1_Intron|GNB2L1_ENST00000376817.4_Missense_Mutation_p.A206G|GNB2L1_ENST00000511566.1_Intron|GNB2L1_ENST00000511900.1_Missense_Mutation_p.A202G NM_006098.4 NP_006089.1 P63244 GBLP_HUMAN guanine nucleotide binding protein (G protein), beta polypeptide 2-like 1 250 apoptosis|cell cycle|gastrulation|interspecies interaction between organisms|negative regulation of cell growth|negative regulation of phagocytosis|negative regulation of translation|negative regulation of Wnt receptor signaling pathway|positive regulation of apoptosis|positive regulation of cell migration|positive regulation of gastrulation|positive regulation of GTPase activity|positive regulation of proteasomal ubiquitin-dependent protein catabolic process|positive regulation of protein homooligomerization|positive regulation of protein phosphorylation|regulation of cell cycle|regulation of cell division|regulation of establishment of cell polarity|regulation of protein localization|rhythmic process cytoskeleton|dendrite|midbody|nucleus|perikaryon|perinuclear region of cytoplasm|phagocytic cup|small ribosomal subunit ion channel inhibitor activity|protein kinase C binding|protein phosphatase binding|protein tyrosine kinase inhibitor activity|receptor tyrosine kinase binding|SH2 domain binding lung(3)|skin(2) 5 all_cancers(89;8.79e-06)|all_epithelial(37;1.13e-06)|Renal(175;0.000159)|Lung NSC(126;0.00354)|all_lung(126;0.00609)|Breast(19;0.0654) all_cancers(40;0.000209)|Medulloblastoma(196;0.0133)|all_neural(177;0.0199)|all_lung(500;0.0221)|all_hematologic(541;0.0433)|Lung NSC(249;0.132)|Ovarian(839;0.238) Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178) GBM - Glioblastoma multiforme(465;0.101)|all cancers(165;0.11) GCCTGTGGCAGCACACAGCCA 0.512000 47 48 0 0 1 0 0 TUBB8P7 197331 broad.mit.edu 37 16 90162304 90162304 + RNA SNP A A G TCGA-S5-AA26-01A-11D-A38G-08 TCGA-S5-AA26-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0edef79b-466e-4362-af00-3961ea0d904c ae0ccd07-e2c8-42b5-b900-2ecfda4104d2 g.chr16:90162304A>G ENST00000564451.1 + 0 1657 TUBB8P7_ENST00000567960.1_RNA CTGGCTCCCCAACAACGTAAA 0.502000 4 234 0 0 1 0 0 DAB2 1601 broad.mit.edu 37 5 39383232 39383232 + Missense_Mutation SNP C C G TCGA-S5-AA26-01A-11D-A38G-08 TCGA-S5-AA26-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0edef79b-466e-4362-af00-3961ea0d904c ae0ccd07-e2c8-42b5-b900-2ecfda4104d2 g.chr5:39383232C>G ENST00000320816.6 - 10 1296 c.829G>C c.(829-831)Gaa>Caa p.E277Q DAB2_ENST00000545653.1_Missense_Mutation_p.E256Q|DAB2_ENST00000339788.6_Intron|DAB2_ENST00000509337.1_Missense_Mutation_p.E256Q NM_001343.3 NP_001334.2 P98082 DAB2_HUMAN Dab, mitogen-responsive phosphoprotein, homolog 2 (Drosophila) 277 cell proliferation|negative regulation of canonical Wnt receptor signaling pathway|negative regulation of protein binding|negative regulation of transcription, DNA-dependent|positive regulation of proteasomal ubiquitin-dependent protein catabolic process|positive regulation of protein phosphorylation|positive regulation of transcription, DNA-dependent|positive regulation of Wnt receptor signaling pathway, planar cell polarity pathway clathrin coated vesicle membrane|coated pit protein C-terminus binding autonomic_ganglia(1)|breast(3)|central_nervous_system(1)|endometrium(1)|kidney(5)|large_intestine(9)|lung(19)|prostate(2)|skin(4)|upper_aerodigestive_tract(2) 47 all_lung(31;0.000197) Epithelial(62;0.137) AAGGCATTTTCAGGCAAGAAG 0.468000 37 50 0 0 1 0 0 AIP 9049 broad.mit.edu 37 11 67250680 67250680 + Silent SNP G G A TCGA-S5-AA26-01A-11D-A38G-08 TCGA-S5-AA26-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0edef79b-466e-4362-af00-3961ea0d904c ae0ccd07-e2c8-42b5-b900-2ecfda4104d2 g.chr11:67250680G>A ENST00000279146.3 + 1 169 c.51G>A c.(49-51)gtG>gtA p.V17V NM_003977.2 NP_003968.2 O00170 AIP_HUMAN aryl hydrocarbon receptor interacting protein 17 protein maturation by protein folding|protein targeting to mitochondrion nucleus signal transducer activity|transcription coactivator activity|transcription factor binding|unfolded protein binding central_nervous_system(1)|large_intestine(1)|lung(3)|skin(2) 7 AAAAACGTGTGATACAGGAAG 0.607000 Familial Isolated Pituitary Adenoma 16 22 0 0 1 0 0 USP15 9958 broad.mit.edu 37 12 62708610 62708610 + Missense_Mutation SNP G G A TCGA-S5-AA26-01A-11D-A38G-08 TCGA-S5-AA26-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0edef79b-466e-4362-af00-3961ea0d904c ae0ccd07-e2c8-42b5-b900-2ecfda4104d2 g.chr12:62708610G>A ENST00000280377.5 + 4 446 c.388G>A c.(388-390)Gaa>Aaa p.E130K USP15_ENST00000550632.1_3'UTR|USP15_ENST00000353364.3_Missense_Mutation_p.E130K|USP15_ENST00000312635.6_Missense_Mutation_p.E130K|USP15_ENST00000393654.3_Missense_Mutation_p.E130K NM_001252078.1 NP_001239007.1 Q9Y4E8 UBP15_HUMAN ubiquitin specific peptidase 15 130 protein deubiquitination|ubiquitin-dependent protein catabolic process cysteine-type endopeptidase activity|protein binding|ubiquitin thiolesterase activity|ubiquitin-specific protease activity breast(1)|central_nervous_system(1)|endometrium(2)|kidney(5)|large_intestine(8)|lung(15)|ovary(2)|prostate(2)|upper_aerodigestive_tract(1) 37 GBM - Glioblastoma multiforme(1;0.000276) GBM - Glioblastoma multiforme(28;0.0622) CTGCAAAGTAGAAGTATATCT 0.323000 98 128 0 0 1 0 0 RHOU 58480 broad.mit.edu 37 1 228879263 228879263 + Missense_Mutation SNP G G A TCGA-S5-AA26-01A-11D-A38G-08 TCGA-S5-AA26-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0edef79b-466e-4362-af00-3961ea0d904c ae0ccd07-e2c8-42b5-b900-2ecfda4104d2 g.chr1:228879263G>A ENST00000366691.3 + 3 1219 c.553G>A c.(553-555)Gaa>Aaa p.E185K NM_021205.5 NP_067028.1 Q7L0Q8 RHOU_HUMAN ras homolog family member U 185 regulation of small GTPase mediated signal transduction cell projection|cytosol|focal adhesion|Golgi membrane|podosome GTP binding|metal ion binding|protein binding breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(1)|lung(8)|stomach(1) 13 Breast(184;0.162) Prostate(94;0.183) GCCAGTGCCTGAAGAGGCGGC 0.498000 44 61 0 0 1 0 0 ZSCAN22 342945 broad.mit.edu 37 19 58850653 58850653 + Silent SNP G G C TCGA-S5-AA26-01A-11D-A38G-08 TCGA-S5-AA26-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0edef79b-466e-4362-af00-3961ea0d904c ae0ccd07-e2c8-42b5-b900-2ecfda4104d2 g.chr19:58850653G>C ENST00000329665.4 + 3 1584 c.1437G>C c.(1435-1437)ctG>ctC p.L479L NM_181846.2 NP_862829.1 P10073 ZSC22_HUMAN zinc finger and SCAN domain containing 22 479 viral reproduction nucleus DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding cervix(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(7)|pancreas(1)|prostate(2) 16 all_cancers(17;3.11e-12)|all_epithelial(17;9.43e-09)|Colorectal(82;0.000256)|Lung NSC(17;0.000607)|all_lung(17;0.0024)|all_neural(62;0.0412)|Ovarian(87;0.156) UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0289) GCTCAGCCCTGATGGTTCACT 0.582000 31 61 0 0 1 0 0 WNT10B 7480 broad.mit.edu 37 12 49360196 49360196 + Silent SNP G G A TCGA-S5-AA26-01A-11D-A38G-08 TCGA-S5-AA26-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0edef79b-466e-4362-af00-3961ea0d904c ae0ccd07-e2c8-42b5-b900-2ecfda4104d2 g.chr12:49360196G>A ENST00000301061.4 - 5 1200 c.852C>T c.(850-852)ttC>ttT p.F284F WNT10B_ENST00000407467.1_3'UTR|WNT10B_ENST00000403957.1_3'UTR NM_003394.3 NP_003385.2 O00744 WN10B_HUMAN wingless-type MMTV integration site family, member 10B 284 axis specification|bone trabecula formation|canonical Wnt receptor signaling pathway|cellular response to retinoic acid|chondrocyte differentiation|female gonad development|hemopoietic stem cell proliferation|midbrain-hindbrain boundary development|myoblast cell differentiation involved in skeletal muscle regeneration|negative regulation of epithelial cell proliferation|negative regulation of fat cell differentiation|neuron differentiation|positive regulation of anagen|positive regulation of apoptosis|positive regulation of bone mineralization|positive regulation of cell proliferation|positive regulation of epithelial cell differentiation|positive regulation of osteoblast differentiation|protein stabilization|regulation of skeletal muscle tissue development|skeletal muscle fiber development|smoothened signaling pathway|Wnt receptor signaling pathway, calcium modulating pathway extracellular space|plasma membrane|proteinaceous extracellular matrix G-protein-coupled receptor binding|signal transducer activity central_nervous_system(1)|large_intestine(5)|lung(12)|prostate(1)|skin(4) 23 GGGTATCAATGAAGATGGCCC 0.627000 30 38 0 0 1 0 0 ATP8A2 51761 broad.mit.edu 37 13 26273332 26273332 + Nonsense_Mutation SNP C C T TCGA-S5-AA26-01A-11D-A38G-08 TCGA-S5-AA26-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0edef79b-466e-4362-af00-3961ea0d904c ae0ccd07-e2c8-42b5-b900-2ecfda4104d2 g.chr13:26273332C>T ENST00000381655.2 + 25 2375 c.2233C>T c.(2233-2235)Cag>Tag p.Q745* ATP8A2_ENST00000255283.8_Nonsense_Mutation_p.Q705*|ATP8A2_ENST00000491840.1_3'UTR NM_016529.4 NP_057613.4 Q9NTI2 AT8A2_HUMAN ATPase, aminophospholipid transporter, class I, type 8A, member 2 705 ATP biosynthetic process|negative regulation of cell proliferation integral to membrane ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|magnesium ion binding|phospholipid-translocating ATPase activity breast(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(17)|lung(31)|ovary(4)|skin(3)|stomach(1)|urinary_tract(1) 72 Breast(139;0.0201)|Lung SC(185;0.0225) all cancers(112;0.043)|OV - Ovarian serous cystadenocarcinoma(117;0.0748)|Epithelial(112;0.079) AGCCATTACTCAGCACTGCAC 0.438000 31 32 0 0 1 0 0 ATM 472 broad.mit.edu 37 11 108151820 108151820 + Silent SNP C C T TCGA-S5-AA26-01A-11D-A38G-08 TCGA-S5-AA26-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0edef79b-466e-4362-af00-3961ea0d904c ae0ccd07-e2c8-42b5-b900-2ecfda4104d2 g.chr11:108151820C>T ENST00000278616.4 + 24 3886 c.3501C>T c.(3499-3501)atC>atT p.I1167I ATM_ENST00000452508.2_Silent_p.I1167I NM_000051.3 NP_000042 Q13315 ATM_HUMAN ataxia telangiectasia mutated 1167 cell cycle arrest|cellular response to gamma radiation|DNA damage induced protein phosphorylation|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|double-strand break repair via homologous recombination|G2/M transition DNA damage checkpoint|histone mRNA catabolic process|mitotic cell cycle spindle assembly checkpoint|negative regulation of B cell proliferation|peptidyl-serine phosphorylation|positive regulation of DNA damage response, signal transduction by p53 class mediator|pre-B cell allelic exclusion|protein autophosphorylation|reciprocal meiotic recombination|replicative senescence cytoplasmic membrane-bounded vesicle|nucleoplasm 1-phosphatidylinositol-3-kinase activity|ATP binding|DNA binding|DNA-dependent protein kinase activity|identical protein binding|protein complex binding|protein dimerization activity|protein N-terminus binding NS(4)|breast(23)|central_nervous_system(11)|endometrium(10)|haematopoietic_and_lymphoid_tissue(227)|kidney(19)|large_intestine(53)|liver(5)|lung(62)|ovary(6)|pancreas(4)|prostate(13)|skin(4)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(3) 448 all_cancers(61;9.64e-12)|all_epithelial(67;9.97e-08)|Melanoma(852;2.55e-06)|Acute lymphoblastic leukemia(157;3.95e-05)|all_hematologic(158;0.00014)|Breast(348;0.0258)|all_neural(303;0.072) Epithelial(105;9.05e-06)|BRCA - Breast invasive adenocarcinoma(274;1.06e-05)|all cancers(92;0.000208)|Colorectal(284;0.116)|OV - Ovarian serous cystadenocarcinoma(223;0.147) GTAGCCCTATCTGCGAAAAAC 0.363000 """D, Mis, N, F, S""" T-PLL """leukemia, lymphoma, medulloblastoma, glioma""" Genes defective in diseases associated with sensitivity to DNA damaging agents Ataxia Telangiectasia TSP Lung(14;0.12) 56 48 0 0 1 0 0 MPI 4351 broad.mit.edu 37 15 75189514 75189514 + Missense_Mutation SNP C C T TCGA-S5-AA26-01A-11D-A38G-08 TCGA-S5-AA26-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0edef79b-466e-4362-af00-3961ea0d904c ae0ccd07-e2c8-42b5-b900-2ecfda4104d2 g.chr15:75189514C>T ENST00000352410.4 + 7 1074 c.1007C>T c.(1006-1008)tCa>tTa p.S336L MPI_ENST00000323744.6_Missense_Mutation_p.S275L|MPI_ENST00000566377.1_Intron|MPI_ENST00000535694.1_Missense_Mutation_p.S286L|MPI_ENST00000563786.1_Missense_Mutation_p.S316L P34949 MPI_HUMAN mannose phosphate isomerase 336 dolichol-linked oligosaccharide biosynthetic process|GDP-mannose biosynthetic process|post-translational protein modification|protein N-linked glycosylation via asparagine cytosol mannose-6-phosphate isomerase activity|zinc ion binding endometrium(2)|kidney(1)|large_intestine(1)|lung(2)|ovary(2)|upper_aerodigestive_tract(1) 9 CCCTACCTCTCAATCTATGAC 0.517000 40 110 0 0 1 0 0 ZMYM6 9204 broad.mit.edu 37 1 35470789 35470789 + Nonsense_Mutation SNP G G C TCGA-S5-AA26-01A-11D-A38G-08 TCGA-S5-AA26-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0edef79b-466e-4362-af00-3961ea0d904c ae0ccd07-e2c8-42b5-b900-2ecfda4104d2 g.chr1:35470789G>C ENST00000357182.4 - 13 2125 c.1898C>G c.(1897-1899)tCa>tGa p.S633* ZMYM6_ENST00000493328.1_5'UTR|ZMYM6_ENST00000487874.1_Nonsense_Mutation_p.S633*|ZMYM6_ENST00000373340.2_Nonsense_Mutation_p.S633* NM_007167.3 NP_009098.3 O95789 ZMYM6_HUMAN zinc finger, MYM-type 6 633 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) TTTTGCCAATGACATCACACT 0.368000 39 54 0 0 1 0 0 TSSC2 650368 broad.mit.edu 37 11 3427845 3427845 + RNA SNP C C T TCGA-S5-AA26-01A-11D-A38G-08 TCGA-S5-AA26-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0edef79b-466e-4362-af00-3961ea0d904c ae0ccd07-e2c8-42b5-b900-2ecfda4104d2 g.chr11:3427845C>T ENST00000529482.1 + 0 962 CTTCAAGTGGCAGGAGCAGAA 0.587000 6 19 0 0 1 0 0 IGSF11 152404 broad.mit.edu 37 3 118647477 118647477 + Silent SNP G G T TCGA-S5-AA26-01A-11D-A38G-08 TCGA-S5-AA26-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0edef79b-466e-4362-af00-3961ea0d904c ae0ccd07-e2c8-42b5-b900-2ecfda4104d2 g.chr3:118647477G>T ENST00000354673.2 - 5 680 c.300C>A c.(298-300)acC>acA p.T100T IGSF11_ENST00000489689.1_Silent_p.T101T|IGSF11_ENST00000393775.2_Silent_p.T101T|IGSF11_ENST00000425327.2_Silent_p.T100T|IGSF11_ENST00000491903.1_Silent_p.T101T|IGSF11_ENST00000441144.2_Silent_p.T100T|IGSF11_ENST00000459718.1_5'UTR NM_152538.2 NP_689751.2 Q5DX21 IGS11_HUMAN immunoglobulin superfamily, member 11 101 Ig-like V-type. cell adhesion|regulation of growth integral to membrane|plasma membrane receptor activity autonomic_ganglia(1)|breast(1)|endometrium(1)|kidney(1)|large_intestine(3)|liver(1)|lung(20)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1) 34 TAGAGACATTGGTAGCTGGCA 0.507000 32 31 4.02929e-09 4.17945e-09 1 1 0 MAP2K3 5606 broad.mit.edu 37 17 21208407 21208407 + Silent SNP C C G TCGA-S5-AA26-01A-11D-A38G-08 TCGA-S5-AA26-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0edef79b-466e-4362-af00-3961ea0d904c ae0ccd07-e2c8-42b5-b900-2ecfda4104d2 g.chr17:21208407C>G ENST00000342679.4 + 9 990 c.741C>G c.(739-741)gtC>gtG p.V247V MAP2K3_ENST00000361818.5_Silent_p.V218V|MAP2K3_ENST00000316920.6_Silent_p.V218V NM_145109.2 NP_659731.1 P46734 MP2K3_HUMAN mitogen-activated protein kinase kinase 3 247 Protein kinase. activation of MAPK activity|innate immune response|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|positive regulation of transcription, DNA-dependent|stress-activated MAPK cascade|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway cytosol|nucleoplasm ATP binding|MAP kinase kinase activity|protein binding|protein serine/threonine kinase activity|protein tyrosine kinase activity COAD - Colon adenocarcinoma(3;0.0131)|Colorectal(15;0.0553) GCTACAATGTCAAGTCCGACG 0.647000 35 132 0 0 1 0 0 IQGAP2 10788 broad.mit.edu 37 5 75927747 75927747 + Missense_Mutation SNP C C T TCGA-S5-AA26-01A-11D-A38G-08 TCGA-S5-AA26-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0edef79b-466e-4362-af00-3961ea0d904c ae0ccd07-e2c8-42b5-b900-2ecfda4104d2 g.chr5:75927747C>T ENST00000274364.6 + 15 1973 c.1676C>T c.(1675-1677)tCt>tTt p.S559F IQGAP2_ENST00000396234.3_Missense_Mutation_p.S112F|IQGAP2_ENST00000379730.3_Missense_Mutation_p.S118F|IQGAP2_ENST00000502745.1_Missense_Mutation_p.S112F NM_006633.2 NP_006624 Q13576 IQGA2_HUMAN IQ motif containing GTPase activating protein 2 559 small GTPase mediated signal transduction actin cytoskeleton actin binding|calmodulin binding|GTPase inhibitor activity|Ras GTPase activator activity NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(15)|lung(23)|ovary(6)|prostate(1)|skin(3)|stomach(5)|upper_aerodigestive_tract(1)|urinary_tract(1) 68 all_lung(232;0.000514)|Lung NSC(167;0.00135)|Prostate(461;0.00838)|Ovarian(174;0.0149) all cancers(79;1.38e-36) GATATTTTGTCTGTATTGAAG 0.363000 31 32 0 0 1 0 0 DIP2C 22982 broad.mit.edu 37 10 409226 409226 + Missense_Mutation SNP G G T TCGA-S5-AA26-01A-11D-A38G-08 TCGA-S5-AA26-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0edef79b-466e-4362-af00-3961ea0d904c ae0ccd07-e2c8-42b5-b900-2ecfda4104d2 g.chr10:409226G>T ENST00000280886.6 - 21 2590 c.2503C>A c.(2503-2505)Ctg>Atg p.L835M DIP2C_ENST00000540204.1_Missense_Mutation_p.L156M|DIP2C_ENST00000381496.3_3'UTR NM_014974.2 NP_055789.1 Q9Y2E4 DIP2C_HUMAN DIP2 disco-interacting protein 2 homolog C (Drosophila) 835 nucleus catalytic activity|transcription factor binding breast(8)|endometrium(6)|kidney(10)|large_intestine(13)|lung(26)|ovary(3)|prostate(6)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(4) 81 all_cancers(4;0.00336)|all_lung(4;0.00732)|Lung NSC(4;0.00785)|all_epithelial(10;0.0159)|Colorectal(49;0.235) OV - Ovarian serous cystadenocarcinoma(33;0.136) Epithelial(11;0.0123)|all cancers(11;0.0467)|Lung(33;0.0864)|OV - Ovarian serous cystadenocarcinoma(14;0.106) TCGTCGTGCAGCACGGTCACC 0.652000 17 31 5.35267e-07 5.48402e-07 1 1 0 FBN2 2201 broad.mit.edu 37 5 127624927 127624927 + Missense_Mutation SNP C C G TCGA-S5-AA26-01A-11D-A38G-08 TCGA-S5-AA26-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0edef79b-466e-4362-af00-3961ea0d904c ae0ccd07-e2c8-42b5-b900-2ecfda4104d2 g.chr5:127624927C>G ENST00000508053.1 - 58 7503 c.6529G>C c.(6529-6531)Gag>Cag p.E2177Q FBN2_ENST00000262464.4_Missense_Mutation_p.E2177Q P35556 FBN2_HUMAN fibrillin 2 2177 EGF-like 36; calcium-binding. bone trabecula formation|negative regulation of transforming growth factor beta receptor signaling pathway by extracellular sequestering of TGFbeta|positive regulation of bone mineralization|positive regulation of osteoblast differentiation microfibril calcium ion binding|extracellular matrix structural constituent NS(1)|autonomic_ganglia(1)|biliary_tract(1)|breast(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(37)|liver(1)|lung(89)|ovary(9)|pancreas(2)|prostate(6)|skin(10)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(1) 197 all_cancers(142;0.0216)|Prostate(80;0.0551) KIRC - Kidney renal clear cell carcinoma(527;0.0268)|Kidney(363;0.0488) OV - Ovarian serous cystadenocarcinoma(64;0.0821)|Epithelial(69;0.146) CCTGGGCTCTCAAGACACTCA 0.438000 48 61 0 0 1 0 0 SEC16A 9919 broad.mit.edu 37 9 139345835 139345835 + Missense_Mutation SNP G G A TCGA-S5-AA26-01A-11D-A38G-08 TCGA-S5-AA26-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0edef79b-466e-4362-af00-3961ea0d904c ae0ccd07-e2c8-42b5-b900-2ecfda4104d2 g.chr9:139345835G>A ENST00000313050.7 - 21 6258 c.6185C>T c.(6184-6186)tCg>tTg p.S2062L SEC16A_ENST00000371706.3_Missense_Mutation_p.S1884L|SEC16A_ENST00000290037.6_Missense_Mutation_p.S1884L|SEC16A_ENST00000431893.2_Missense_Mutation_p.S1884L NM_014866.1 NP_055681.1 O15027 SC16A_HUMAN SEC16 homolog A (S. cerevisiae) 1884 Pro-rich.|Required for interaction with SEC23A. protein transport|vesicle-mediated transport endoplasmic reticulum membrane|Golgi membrane breast(1)|central_nervous_system(3)|endometrium(7)|kidney(5)|large_intestine(15)|lung(14)|ovary(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 51 Myeloproliferative disorder(178;0.0511) Epithelial(140;2.9e-06)|OV - Ovarian serous cystadenocarcinoma(145;5.88e-06) GGGGGCCTCCGAGTCTGGCAC 0.642000 13 0 0 0 1 0 0 EYA2 2139 broad.mit.edu 37 20 45797818 45797818 + Nonsense_Mutation SNP C C G TCGA-S5-AA26-01A-11D-A38G-08 TCGA-S5-AA26-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0edef79b-466e-4362-af00-3961ea0d904c ae0ccd07-e2c8-42b5-b900-2ecfda4104d2 g.chr20:45797818C>G ENST00000327619.5 + 11 1384 c.1010C>G c.(1009-1011)tCa>tGa p.S337* EYA2_ENST00000317304.6_Nonsense_Mutation_p.S307*|EYA2_ENST00000357410.3_Nonsense_Mutation_p.S337* NM_005244.4 NP_005235.3 O00167 EYA2_HUMAN eyes absent homolog 2 (Drosophila) 337 DNA repair|histone dephosphorylation|mesodermal cell fate specification|regulation of transcription, DNA-dependent|transcription, DNA-dependent cytoplasm|nucleus magnesium ion binding|protein binding|protein tyrosine phosphatase activity NS(1)|breast(2)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(7)|lung(11)|ovary(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(1) 32 Myeloproliferative disorder(115;0.0241) GATGACGTCTCATCAGATGAC 0.413000 40 66 0 0 1 0 0 PKD2 5311 broad.mit.edu 37 4 88983152 88983152 + Missense_Mutation SNP G G A TCGA-S5-AA26-01A-11D-A38G-08 TCGA-S5-AA26-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0edef79b-466e-4362-af00-3961ea0d904c ae0ccd07-e2c8-42b5-b900-2ecfda4104d2 g.chr4:88983152G>A ENST00000237596.2 + 10 2180 c.2114G>A c.(2113-2115)aGa>aAa p.R705K PKD2_ENST00000508588.1_Missense_Mutation_p.R123K|PKD2_ENST00000502363.1_Missense_Mutation_p.R123K|PKD2_ENST00000511337.1_3'UTR NM_000297.3 NP_000288.1 Q13563 PKD2_HUMAN polycystic kidney disease 2 (autosomal dominant) 705 EF-hand domain. basal cortex|basal plasma membrane|endoplasmic reticulum|integral to membrane|lamellipodium|microtubule basal body calcium ion binding|cytoskeletal protein binding|voltage-gated chloride channel activity|voltage-gated sodium channel activity breast(1)|endometrium(4)|kidney(1)|large_intestine(8)|liver(2)|lung(15)|skin(4)|upper_aerodigestive_tract(1) 36 Hepatocellular(203;0.114)|Acute lymphoblastic leukemia(40;0.221) OV - Ovarian serous cystadenocarcinoma(123;9.98e-10)|COAD - Colon adenocarcinoma(81;0.0237) GATCTTATCAGAAAGGTAGGA 0.338000 16 35 0 0 1 0 0 CLIP4 79745 broad.mit.edu 37 2 29355041 29355041 + Silent SNP G G C TCGA-S5-AA26-01A-11D-A38G-08 TCGA-S5-AA26-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0edef79b-466e-4362-af00-3961ea0d904c ae0ccd07-e2c8-42b5-b900-2ecfda4104d2 g.chr2:29355041G>C ENST00000320081.5 + 4 552 c.297G>C c.(295-297)gtG>gtC p.V99V CLIP4_ENST00000401605.1_Silent_p.V99V|CLIP4_ENST00000401617.2_5'UTR|CLIP4_ENST00000404424.1_Silent_p.V99V NM_024692.4 NP_078968.3 Q8N3C7 CLIP4_HUMAN CAP-GLY domain containing linker protein family, member 4 99 endometrium(4)|kidney(2)|large_intestine(9)|lung(8)|ovary(1)|prostate(1)|skin(1) 26 Acute lymphoblastic leukemia(172;0.155) GTTGCAATGTGAATGATAGAG 0.383000 40 4 0 0 1 0 0 AK4 205 broad.mit.edu 37 1 65691751 65691751 + Missense_Mutation SNP G G A TCGA-S5-AA26-01A-11D-A38G-08 TCGA-S5-AA26-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0edef79b-466e-4362-af00-3961ea0d904c ae0ccd07-e2c8-42b5-b900-2ecfda4104d2 g.chr1:65691751G>A ENST00000395334.2 + 6 921 c.563G>A c.(562-564)cGa>cAa p.R188Q AK4_ENST00000546702.1_Missense_Mutation_p.R136Q|AK4_ENST00000545314.1_Missense_Mutation_p.R188Q|AK4_ENST00000327299.7_Missense_Mutation_p.R188Q NM_001005353.2 NP_001005353.1 P27144 KAD4_HUMAN adenylate kinase 4 188 mitochondrial matrix adenylate kinase activity|ATP binding|GTP binding breast(1)|endometrium(1)|kidney(2)|large_intestine(1)|lung(1)|ovary(1)|pancreas(1)|skin(1) 9 TTCAGGAGCCGAGGAGTGCTC 0.413000 10 12 0 0 1 0 0 MYO9A 4649 broad.mit.edu 37 15 72338677 72338677 + Silent SNP G G A TCGA-S5-AA26-01A-11D-A38G-08 TCGA-S5-AA26-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0edef79b-466e-4362-af00-3961ea0d904c ae0ccd07-e2c8-42b5-b900-2ecfda4104d2 g.chr15:72338677G>A ENST00000356056.5 - 2 700 c.228C>T c.(226-228)ctC>ctT p.L76L MYO9A_ENST00000563542.1_5'UTR|MYO9A_ENST00000564571.1_Silent_p.L76L|MYO9A_ENST00000444904.1_Silent_p.L76L|MYO9A_ENST00000566885.1_Intron|MYO9A_ENST00000424560.1_Silent_p.L76L NM_006901.3 NP_008832.2 B2RTY4 MYO9A_HUMAN myosin IXA 76 Ras-associating. regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction|visual perception cytosol|integral to membrane|unconventional myosin complex actin binding|ATP binding|GTPase activator activity|metal ion binding|motor activity NS(4)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(3)|large_intestine(29)|lung(27)|ovary(1)|pancreas(1)|prostate(5)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(2) 88 CTGTTGGATTGAGAATCCATT 0.428000 37 37 0 0 1 0 0 AMIGO1 57463 broad.mit.edu 37 1 110050374 110050374 + Silent SNP G G A TCGA-S5-AA26-01A-11D-A38G-08 TCGA-S5-AA26-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0edef79b-466e-4362-af00-3961ea0d904c ae0ccd07-e2c8-42b5-b900-2ecfda4104d2 g.chr1:110050374G>A ENST00000369864.4 - 2 1510 c.1161C>T c.(1159-1161)gtC>gtT p.V387V AMIGO1_ENST00000369862.1_Silent_p.V387V Q86WK6 AMGO1_HUMAN adhesion molecule with Ig-like domain 1 387 axonal fasciculation|heterophilic cell-cell adhesion|homophilic cell adhesion|myelination|positive regulation of axonogenesis axon|integral to membrane autonomic_ganglia(1)|breast(2)|endometrium(1)|large_intestine(6)|lung(3)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 16 all_epithelial(167;2.83e-05)|all_lung(203;0.00016)|Lung NSC(277;0.000318)|Breast(1374;0.244) Colorectal(144;0.0129)|Lung(183;0.0182)|Epithelial(280;0.046)|all cancers(265;0.0492)|READ - Rectum adenocarcinoma(129;0.0689)|LUSC - Lung squamous cell carcinoma(189;0.227) GGTATATGAGGACCAGGACCA 0.527000 28 33 0 0 1 0 0 CCDC30 728621 broad.mit.edu 37 1 43032078 43032078 + Nonsense_Mutation SNP C C T TCGA-S5-AA26-01A-11D-A38G-08 TCGA-S5-AA26-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0edef79b-466e-4362-af00-3961ea0d904c ae0ccd07-e2c8-42b5-b900-2ecfda4104d2 g.chr1:43032078C>T ENST00000428554.2 + 13 1930 c.787C>T c.(787-789)Cga>Tga p.R263* CCDC30_ENST00000340612.4_Nonsense_Mutation_p.R263*|CCDC30_ENST00000342022.4_Nonsense_Mutation_p.R263*|CCDC30_ENST00000507855.1_Nonsense_Mutation_p.R52*|CCDC30_ENST00000390640.4_Nonsense_Mutation_p.R52* Q5VVM6 CCD30_HUMAN coiled-coil domain containing 30 263 p.R263*(1) endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|lung(11)|ovary(1)|pancreas(1)|prostate(1)|urinary_tract(2) 30 AAATGAGCTTCGATATGAACG 0.408000 37 39 0 0 1 0 0 SF3A1 10291 broad.mit.edu 37 22 30733138 30733138 + Silent SNP G G T TCGA-S5-AA26-01A-11D-A38G-08 TCGA-S5-AA26-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0edef79b-466e-4362-af00-3961ea0d904c ae0ccd07-e2c8-42b5-b900-2ecfda4104d2 g.chr22:30733138G>T ENST00000215793.8 - 13 2137 c.1983C>A c.(1981-1983)gtC>gtA p.V661V SF3A1_ENST00000439242.1_Silent_p.V596V NM_005877.4 NP_005868.1 Q15459 SF3A1_HUMAN splicing factor 3a, subunit 1, 120kDa nuclear mRNA 3'-splice site recognition catalytic step 2 spliceosome|nucleoplasm|U2-type spliceosomal complex protein binding|RNA binding endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(9)|ovary(4)|pancreas(1)|prostate(1)|urinary_tract(1) 29 CTGGAGCTGGGACAGGTGCCA 0.592000 31 24 4.15321e-07 4.26822e-07 1 1 0 MPHOSPH8 54737 broad.mit.edu 37 13 20240702 20240702 + Silent SNP G G A TCGA-S5-AA26-01A-11D-A38G-08 TCGA-S5-AA26-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0edef79b-466e-4362-af00-3961ea0d904c ae0ccd07-e2c8-42b5-b900-2ecfda4104d2 g.chr13:20240702G>A ENST00000361479.5 + 10 2225 c.2157G>A c.(2155-2157)ctG>ctA p.L719L MPHOSPH8_ENST00000414242.2_Silent_p.L719L NM_017520.3 NP_059990.2 Q99549 MPP8_HUMAN M-phase phosphoprotein 8 719 cell cycle cytoplasm|nucleus breast(2)|endometrium(1)|large_intestine(2)|lung(8)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 16 all_cancers(29;2.83e-16)|all_lung(29;1.16e-17)|all_epithelial(30;8.13e-16)|Lung NSC(5;6.91e-15)|Lung SC(185;0.0367) all cancers(112;8.43e-05)|Epithelial(112;0.000426)|OV - Ovarian serous cystadenocarcinoma(117;0.00596)|Lung(94;0.015)|LUSC - Lung squamous cell carcinoma(192;0.0795) ACGACTTGCTGAAGAACCATT 0.403000 42 60 0 0 1 0 0 JAK1 3716 broad.mit.edu 37 1 65335121 65335121 + Nonsense_Mutation SNP G G A TCGA-S5-AA26-01A-11D-A38G-08 TCGA-S5-AA26-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0edef79b-466e-4362-af00-3961ea0d904c ae0ccd07-e2c8-42b5-b900-2ecfda4104d2 g.chr1:65335121G>A ENST00000342505.4 - 6 768 c.520C>T c.(520-522)Cga>Tga p.R174* NM_002227.2 NP_002218.2 P23458 JAK1_HUMAN Janus kinase 1 174 FERM. interferon-gamma-mediated signaling pathway|regulation of interferon-gamma-mediated signaling pathway|regulation of type I interferon-mediated signaling pathway|response to antibiotic|type I interferon-mediated signaling pathway cytoskeleton|cytosol|endomembrane system|membrane|nucleus ATP binding|growth hormone receptor binding|non-membrane spanning protein tyrosine kinase activity breast(5)|central_nervous_system(2)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(48)|kidney(3)|large_intestine(8)|liver(2)|lung(19)|ovary(1)|prostate(12)|skin(1)|soft_tissue(6)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 120 BRCA - Breast invasive adenocarcinoma(111;0.0485) TTGGGGTCTCGAATAGGAGCC 0.498000 Mis ALL 36 4 0 0 1 0 0 TTC30B 150737 broad.mit.edu 37 2 178416281 178416281 + Missense_Mutation SNP C C G TCGA-S5-AA26-01A-11D-A38G-08 TCGA-S5-AA26-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0edef79b-466e-4362-af00-3961ea0d904c ae0ccd07-e2c8-42b5-b900-2ecfda4104d2 g.chr2:178416281C>G ENST00000408939.3 - 1 1461 c.1211G>C c.(1210-1212)aGa>aCa p.R404T NM_152517.2 NP_689730.2 Q8N4P2 TT30B_HUMAN tetratricopeptide repeat domain 30B cell projection organization cilium binding cervix(1)|endometrium(1)|kidney(4)|large_intestine(7)|lung(6)|prostate(1)|skin(2)|urinary_tract(1) 23 OV - Ovarian serous cystadenocarcinoma(117;0.00151)|Epithelial(96;0.00931)|all cancers(119;0.0362) TTCATCATCTCTATTGTGTCT 0.428000 166 15 0 0 1 0 0 MAP3K11 4296 broad.mit.edu 37 11 65381077 65381077 + Missense_Mutation SNP C C G TCGA-S5-AA26-01A-11D-A38G-08 TCGA-S5-AA26-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0edef79b-466e-4362-af00-3961ea0d904c ae0ccd07-e2c8-42b5-b900-2ecfda4104d2 g.chr11:65381077C>G ENST00000309100.3 - 1 636 c.151G>C c.(151-153)Gac>Cac p.D51H NM_002419.3 NP_002410.1 Q16584 M3K11_HUMAN mitogen-activated protein kinase kinase kinase 11 51 Gly-rich.|SH3. activation of JUN kinase activity|cell proliferation|G1 phase of mitotic cell cycle|microtubule-based process|positive regulation of JNK cascade|protein autophosphorylation centrosome|microtubule ATP binding|JUN kinase kinase kinase activity|mitogen-activated protein kinase kinase kinase binding|protein homodimerization activity breast(3)|central_nervous_system(1)|kidney(1)|large_intestine(4)|lung(14)|skin(1) 24 GGCTCGTAGTCGAACAGGGCT 0.682000 25 37 0 0 1 0 0 FBN3 84467 broad.mit.edu 37 19 8196695 8196695 + Missense_Mutation SNP G G A TCGA-S5-AA26-01A-11D-A38G-08 TCGA-S5-AA26-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0edef79b-466e-4362-af00-3961ea0d904c ae0ccd07-e2c8-42b5-b900-2ecfda4104d2 g.chr19:8196695G>A ENST00000600128.1 - 15 2147 c.1733C>T c.(1732-1734)aCg>aTg p.T578M FBN3_ENST00000601739.1_Missense_Mutation_p.T578M|FBN3_ENST00000270509.2_Missense_Mutation_p.T578M Q75N90 FBN3_HUMAN fibrillin 3 578 EGF-like 7; calcium-binding. proteinaceous extracellular matrix calcium ion binding|extracellular matrix structural constituent NS(1)|breast(9)|central_nervous_system(2)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(8)|large_intestine(15)|lung(53)|ovary(7)|pancreas(2)|prostate(3)|skin(10)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(2) 132 GATGCCGGGCGTCTGGCACTC 0.657000 10 5 0 0 1 0 0 FFAR3 2865 broad.mit.edu 37 19 35850799 35850799 + Missense_Mutation SNP G G A TCGA-S5-AA26-01A-11D-A38G-08 TCGA-S5-AA26-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0edef79b-466e-4362-af00-3961ea0d904c ae0ccd07-e2c8-42b5-b900-2ecfda4104d2 g.chr19:35850799G>A ENST00000327809.4 + 2 1208 c.1007G>A c.(1006-1008)gGa>gAa p.G336E FFAR3_ENST00000594310.1_Missense_Mutation_p.G336E NM_005304.3 NP_005295.1 O14843 FFAR3_HUMAN free fatty acid receptor 3 336 integral to plasma membrane G-protein coupled receptor activity|lipid binding endometrium(3)|large_intestine(2)|lung(9)|ovary(1)|skin(1)|stomach(1) 17 all_lung(56;9.78e-09)|Lung NSC(56;1.46e-08)|Esophageal squamous(110;0.162) Epithelial(14;1.29e-19)|OV - Ovarian serous cystadenocarcinoma(14;4.63e-18)|all cancers(14;5.19e-17)|LUSC - Lung squamous cell carcinoma(66;0.0221) CAGGGCTGTGGAACTGGTGGC 0.617000 3 8 0 0 1 0 0 IRX5 10265 broad.mit.edu 37 16 54965166 54965166 + Missense_Mutation SNP C C T TCGA-S5-AA26-01A-11D-A38G-08 TCGA-S5-AA26-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0edef79b-466e-4362-af00-3961ea0d904c ae0ccd07-e2c8-42b5-b900-2ecfda4104d2 g.chr16:54965166C>T ENST00000394636.4 + 1 393 c.56C>T c.(55-57)tCg>tTg p.S19L IRX5_ENST00000560154.1_Missense_Mutation_p.S19L|IRX5_ENST00000320990.5_Missense_Mutation_p.S19L P78411 IRX5_HUMAN iroquois homeobox 5 19 response to stimulus|visual perception nucleus sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|vitamin D binding kidney(3)|large_intestine(6)|lung(4)|prostate(1) 14 GCGCTCTACTCGTGCCCGGCG 0.701000 11 24 0 0 1 0 0 AHR 196 broad.mit.edu 37 7 17375399 17375399 + Missense_Mutation SNP G G C TCGA-S5-AA26-01A-11D-A38G-08 TCGA-S5-AA26-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0edef79b-466e-4362-af00-3961ea0d904c ae0ccd07-e2c8-42b5-b900-2ecfda4104d2 g.chr7:17375399G>C ENST00000242057.4 + 9 1792 c.1149G>C c.(1147-1149)caG>caC p.Q383H AHR_ENST00000492120.1_3'UTR NM_001621.4 NP_001612.1 P35869 AHR_HUMAN aryl hydrocarbon receptor 383 PAC. apoptosis|blood vessel development|cell cycle|regulation of B cell proliferation|response to stress|transcription from RNA polymerase II promoter|xenobiotic metabolic process cytosolic aryl hydrocarbon receptor complex|transcription factor complex Hsp90 protein binding|ligand-dependent nuclear receptor activity|protein heterodimerization activity|sequence-specific DNA binding transcription factor activity|transcription factor binding|transcription regulatory region DNA binding p.Q383H(2) NS(1)|central_nervous_system(1)|endometrium(3)|kidney(4)|large_intestine(8)|lung(11)|ovary(1)|pancreas(1)|urinary_tract(3) 33 Lung NSC(10;0.0392)|all_lung(11;0.0754) TTGTAACTCAGAGACCACTAA 0.348000 6 13 0 0 1 0 0 EXO1 9156 broad.mit.edu 37 1 242042605 242042605 + Nonsense_Mutation SNP C C G TCGA-S5-AA26-01A-11D-A38G-08 TCGA-S5-AA26-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0edef79b-466e-4362-af00-3961ea0d904c ae0ccd07-e2c8-42b5-b900-2ecfda4104d2 g.chr1:242042605C>G ENST00000366548.3 + 13 2662 c.2069C>G c.(2068-2070)tCa>tGa p.S690* EXO1_ENST00000518483.1_Nonsense_Mutation_p.S690*|EXO1_ENST00000348581.5_Nonsense_Mutation_p.S690* NM_130398.3 NP_569082.2 Q9UQ84 EXO1_HUMAN exonuclease 1 690 Interaction with MSH2. meiosis|mismatch repair nucleus double-stranded DNA specific 5'-3' exodeoxyribonuclease activity|flap endonuclease activity|metal ion binding|protein binding|ribonuclease H activity|single-stranded DNA specific 5'-3' exodeoxyribonuclease activity NS(1)|central_nervous_system(2)|endometrium(3)|large_intestine(3)|lung(29)|ovary(2)|skin(1)|stomach(2)|urinary_tract(2) 45 Ovarian(103;0.103) all_cancers(173;0.0555) OV - Ovarian serous cystadenocarcinoma(106;0.0107) TCAAATGCATCAAAGCTTTCT 0.408000 Editing and processing nucleases 40 18 0 0 1 0 0 OR52I2 143502 broad.mit.edu 37 11 4608404 4608404 + Nonsense_Mutation SNP C C G TCGA-S5-AA26-01A-11D-A38G-08 TCGA-S5-AA26-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0edef79b-466e-4362-af00-3961ea0d904c ae0ccd07-e2c8-42b5-b900-2ecfda4104d2 g.chr11:4608404C>G ENST00000312614.4 + 1 384 c.362C>G c.(361-363)tCa>tGa p.S121* NM_001005170.2 NP_001005170.1 Q8NH67 O52I2_HUMAN olfactory receptor, family 52, subfamily I, member 2 121 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity endometrium(3)|kidney(1)|large_intestine(2)|lung(11)|pancreas(1)|skin(1) 19 Medulloblastoma(188;0.0075)|Breast(177;0.0461)|all_neural(188;0.0577) Epithelial(150;8.45e-12)|BRCA - Breast invasive adenocarcinoma(625;0.0285)|LUSC - Lung squamous cell carcinoma(625;0.19) GGAGACAGCTCAATCAGCTTT 0.502000 4 58 0 0 1 0 0 CCDC88A 55704 broad.mit.edu 37 2 55529049 55529049 + Missense_Mutation SNP G G A TCGA-S5-AA26-01A-11D-A38G-08 TCGA-S5-AA26-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0edef79b-466e-4362-af00-3961ea0d904c ae0ccd07-e2c8-42b5-b900-2ecfda4104d2 g.chr2:55529049G>A ENST00000436346.1 - 27 5472 c.4631C>T c.(4630-4632)tCt>tTt p.S1544F CCDC88A_ENST00000413716.2_Missense_Mutation_p.S1543F|CCDC88A_ENST00000422883.2_Intron|CCDC88A_ENST00000336838.6_Missense_Mutation_p.S1543F|CCDC88A_ENST00000263630.8_Missense_Mutation_p.S1516F NM_001135597.1|NM_001254943.1 NP_001129069.1|NP_001241872.1 Q3V6T2 GRDN_HUMAN coiled-coil domain containing 88A 1544 activation of protein kinase B activity|cell migration|cellular membrane organization|DNA replication|lamellipodium assembly|microtubule cytoskeleton organization|regulation of actin cytoskeleton organization|regulation of cell proliferation|regulation of DNA replication|regulation of neuron projection development|TOR signaling cascade cytoplasmic membrane-bounded vesicle|cytosol|endoplasmic reticulum|Golgi apparatus|lamellipodium|plasma membrane actin binding|microtubule binding|phosphatidylinositol binding|protein homodimerization activity|protein kinase B binding breast(2)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(22)|lung(23)|ovary(3)|pancreas(1)|prostate(3)|skin(4)|stomach(1)|urinary_tract(1) 69 GCCTGCAGAAGAGTTGACAGT 0.388000 69 12 0 0 1 0 0 PCSK7 9159 broad.mit.edu 37 11 117077007 117077007 + Missense_Mutation SNP C C G TCGA-S5-AA26-01A-11D-A38G-08 TCGA-S5-AA26-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0edef79b-466e-4362-af00-3961ea0d904c ae0ccd07-e2c8-42b5-b900-2ecfda4104d2 g.chr11:117077007C>G ENST00000320934.3 - 17 2694 c.2064G>C c.(2062-2064)ttG>ttC p.L688F PCSK7_ENST00000529458.1_5'UTR|PCSK7_ENST00000540028.1_3'UTR NM_004716.2 NP_004707.2 Q16549 PCSK7_HUMAN proprotein convertase subtilisin/kexin type 7 688 L -> V (in dbSNP:rs608620). 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) TCCTCTGGCTCAAATATACTT 0.547000 T IGH@ MLCLS 18 16 0 0 1 0 0 TTC30B 150737 broad.mit.edu 37 2 178417480 178417480 + Silent SNP C C G TCGA-S5-AA26-01A-11D-A38G-08 TCGA-S5-AA26-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0edef79b-466e-4362-af00-3961ea0d904c ae0ccd07-e2c8-42b5-b900-2ecfda4104d2 g.chr2:178417480C>G ENST00000408939.3 - 1 262 c.12G>C c.(10-12)ctG>ctC p.L4L NM_152517.2 NP_689730.2 Q8N4P2 TT30B_HUMAN tetratricopeptide repeat domain 30B cell projection organization cilium binding cervix(1)|endometrium(1)|kidney(4)|large_intestine(7)|lung(6)|prostate(1)|skin(2)|urinary_tract(1) 23 OV - Ovarian serous cystadenocarcinoma(117;0.00151)|Epithelial(96;0.00931)|all cancers(119;0.0362) GCGCGCCGCTCAGGCCAGCCA 0.627000 4 13 0 0 1 0 0 PRKDC 5591 broad.mit.edu 37 8 48866272 48866272 + Missense_Mutation SNP G G A TCGA-S5-AA26-01A-11D-A38G-08 TCGA-S5-AA26-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0edef79b-466e-4362-af00-3961ea0d904c ae0ccd07-e2c8-42b5-b900-2ecfda4104d2 g.chr8:48866272G>A ENST00000314191.2 - 7 685 c.629C>T c.(628-630)tCa>tTa p.S210L PRKDC_ENST00000523565.1_5'UTR|PRKDC_ENST00000338368.3_Missense_Mutation_p.S210L NM_006904.6 NP_008835.5 P78527 PRKDC_HUMAN protein kinase, DNA-activated, catalytic polypeptide 210 cellular response to insulin stimulus|double-strand break repair via nonhomologous end joining|peptidyl-serine phosphorylation|positive regulation of transcription from RNA polymerase II promoter DNA-dependent protein kinase-DNA ligase 4 complex|transcription factor complex ATP binding|DNA binding|DNA-dependent protein kinase activity|transcription factor binding NS(1)|autonomic_ganglia(1)|breast(2)|central_nervous_system(9)|cervix(3)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(30)|lung(56)|ovary(6)|pancreas(1)|prostate(8)|skin(7) 147 all_cancers(86;0.0336)|all_epithelial(80;0.00111)|Lung NSC(129;0.00363)|all_lung(136;0.00391) TCTTACTGCTGATGTCATCTA 0.408000 Non-homologous end-joining 14 14 0 0 1 0 0 PRKACA 5566 broad.mit.edu 37 19 14208239 14208239 + Silent SNP G G T TCGA-S5-AA26-01A-11D-A38G-08 TCGA-S5-AA26-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0edef79b-466e-4362-af00-3961ea0d904c ae0ccd07-e2c8-42b5-b900-2ecfda4104d2 g.chr19:14208239G>T ENST00000308677.4 - 8 895 c.699C>A c.(697-699)gcC>gcA p.A233A PRKACA_ENST00000589994.1_Silent_p.A225A|PRKACA_ENST00000590853.1_Intron|PRKACA_ENST00000350356.3_5'UTR NM_002730.3 NP_002721.1 P17612 KAPCA_HUMAN protein kinase, cAMP-dependent, catalytic, alpha 233 Protein kinase. activation of phospholipase C activity|activation of protein kinase A activity|blood coagulation|cellular response to glucagon stimulus|energy reserve metabolic process|G2/M transition of mitotic cell cycle|gluconeogenesis|intracellular protein kinase cascade|nerve growth factor receptor signaling pathway|peptidyl-serine phosphorylation|regulation of insulin secretion|transmembrane transport|triglyceride catabolic process|water transport cAMP-dependent protein kinase complex|centrosome|cytosol|nucleoplasm|plasma membrane ATP binding|cAMP-dependent protein kinase activity|cAMP-dependent protein kinase inhibitor activity|protein kinase binding central_nervous_system(2)|endometrium(2)|kidney(2)|large_intestine(3)|lung(5)|ovary(1)|prostate(1) 16 GGTAGCCAGCGGCCATTTCAT 0.612000 24 31 1.22574e-08 1.26357e-08 1 1 0 GTF2H4 2968 broad.mit.edu 37 6 30880886 30880886 + Splice_Site SNP G G C TCGA-S5-AA26-01A-11D-A38G-08 TCGA-S5-AA26-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0edef79b-466e-4362-af00-3961ea0d904c ae0ccd07-e2c8-42b5-b900-2ecfda4104d2 g.chr6:30880886G>C ENST00000259895.4 + 12 1312 c.e12-1 GTF2H4_ENST00000376316.2_Splice_Site NM_001517.4 NP_001508.1 Q92759 TF2H4_HUMAN general transcription factor IIH, polypeptide 4, 52kDa mRNA capping|nucleotide-excision repair, DNA damage removal|positive regulation of viral transcription|protein phosphorylation|termination of RNA polymerase I transcription|transcription elongation from RNA polymerase I promoter|transcription elongation from RNA polymerase II promoter|transcription initiation from RNA polymerase I promoter|transcription initiation from RNA polymerase II promoter|transcription-coupled nucleotide-excision repair|viral reproduction holo TFIIH complex protein binding|sequence-specific DNA binding transcription factor activity breast(1)|endometrium(3)|lung(3)|ovary(2)|skin(1)|upper_aerodigestive_tract(1) 11 TGTTTTCCTAGATAATCCATT 0.473000 Nucleotide excision repair (NER) 45 39 0 0 1 0 0 METTL3 56339 broad.mit.edu 37 14 21969985 21969985 + Missense_Mutation SNP C C T TCGA-S5-AA26-01A-11D-A38G-08 TCGA-S5-AA26-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0edef79b-466e-4362-af00-3961ea0d904c ae0ccd07-e2c8-42b5-b900-2ecfda4104d2 g.chr14:21969985C>T ENST00000298717.4 - 4 935 c.784G>A c.(784-786)Gaa>Aaa p.E262K METTL3_ENST00000538267.1_3'UTR NM_019852.3 NP_062826.2 Q86U44 MTA70_HUMAN methyltransferase like 3 262 gene expression nuclear speck mRNA (2'-O-methyladenosine-N6-)-methyltransferase activity|RNA binding breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(5)|pancreas(1)|prostate(4)|skin(1)|upper_aerodigestive_tract(1) 20 all_cancers(95;0.000628) Epithelial(56;6.61e-06) GBM - Glioblastoma multiforme(265;0.0146) CGAAATTTTTCAACAATGGAT 0.453000 23 55 0 0 1 0 0 RADIL 55698 broad.mit.edu 37 7 4874788 4874788 + Missense_Mutation SNP G G A TCGA-S5-AA26-01A-11D-A38G-08 TCGA-S5-AA26-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0edef79b-466e-4362-af00-3961ea0d904c ae0ccd07-e2c8-42b5-b900-2ecfda4104d2 g.chr7:4874788G>A ENST00000399583.3 - 4 1053 c.866C>T c.(865-867)tCa>tTa p.S289L RADIL_ENST00000538469.1_Missense_Mutation_p.S49L|RADIL_ENST00000536091.1_Missense_Mutation_p.S289L NM_018059.4 NP_060529.4 Q96JH8 RADIL_HUMAN Ras association and DIL domains 289 cell adhesion|multicellular organismal development|signal transduction protein binding NS(1)|biliary_tract(2)|breast(1)|central_nervous_system(3)|endometrium(2)|large_intestine(2)|lung(22)|pancreas(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 41 Ovarian(82;0.0175) UCEC - Uterine corpus endometrioid carcinoma (126;0.0986)|OV - Ovarian serous cystadenocarcinoma(56;7.41e-15) GTCGGGGGCTGAGAGGCTGAT 0.697000 7 9 0 0 1 0 0 NPIPB15 440348 broad.mit.edu 37 16 74425575 74425575 + Missense_Mutation SNP C C G TCGA-S5-AA26-01A-11D-A38G-08 TCGA-S5-AA26-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0edef79b-466e-4362-af00-3961ea0d904c ae0ccd07-e2c8-42b5-b900-2ecfda4104d2 g.chr16:74425575C>G ENST00000429990.1 + 7 1025 c.929C>G c.(928-930)cCt>cGt p.P310R nuclear pore complex interacting protein family, member B15 CCACCCTCTCCTCTTCCACCC 0.493000 26 174 0 0 1 0 0 MAP2K4 6416 broad.mit.edu 37 17 12032540 12032540 + Missense_Mutation SNP C C G TCGA-S5-AA26-01A-11D-A38G-08 TCGA-S5-AA26-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0edef79b-466e-4362-af00-3961ea0d904c ae0ccd07-e2c8-42b5-b900-2ecfda4104d2 g.chr17:12032540C>G ENST00000415385.3 + 10 1062 c.1009C>G c.(1009-1011)Ccg>Gcg p.P337A MAP2K4_ENST00000353533.5_Missense_Mutation_p.P326A NM_001281435.1 NP_001268364.1 P45985 MP2K4_HUMAN mitogen-activated protein kinase kinase 4 326 Protein kinase. cellular response to mechanical stimulus|innate immune response|JNK cascade|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|stress-activated MAPK cascade|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway cytosol ATP binding|JUN kinase kinase activity|protein binding|protein serine/threonine kinase activity|protein tyrosine kinase activity p.0?(10)|p.?(1) NS(1)|biliary_tract(2)|breast(22)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(26)|lung(15)|ovary(8)|pancreas(11)|skin(3)|stomach(2)|testis(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 100 all_cancers(5;0.0413)|Breast(5;0.000625)|all_epithelial(5;0.00978)|all_lung(20;0.0449)|Lung NSC(33;0.163) Epithelial(2;4.12e-09)|all cancers(2;6.86e-07)|BRCA - Breast invasive adenocarcinoma(2;8.74e-07)|Colorectal(4;5.32e-05)|COAD - Colon adenocarcinoma(4;0.0039)|READ - Rectum adenocarcinoma(10;0.0681) AGGAGATCCTCCGCAGCTGAG 0.428000 """D, Mis, N""" """pancreatic, breast, colorectal""" 33 33 0 0 1 0 0 KMT2D 8085 broad.mit.edu 37 12 49446775 49446775 + Silent SNP G G C TCGA-S5-AA26-01A-11D-A38G-08 TCGA-S5-AA26-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0edef79b-466e-4362-af00-3961ea0d904c ae0ccd07-e2c8-42b5-b900-2ecfda4104d2 g.chr12:49446775G>C ENST00000301067.7 - 8 1034 c.1035C>G c.(1033-1035)ctC>ctG p.L345L NM_003482.3 NP_003473.3 lysine (K)-specific methyltransferase 2D AGCGGTGACAGAGAGAGTAGT 0.607000 60 56 0 0 1 0 0 C10orf55 414236 broad.mit.edu 37 10 75671770 75671770 + Silent SNP G G A TCGA-S5-AA26-01A-11D-A38G-08 TCGA-S5-AA26-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0edef79b-466e-4362-af00-3961ea0d904c ae0ccd07-e2c8-42b5-b900-2ecfda4104d2 g.chr10:75671770G>A ENST00000409178.1 - 5 469 c.129C>T c.(127-129)atC>atT p.I43I PLAU_ENST00000446342.1_Intron|PLAU_ENST00000372762.4_Intron|PLAU_ENST00000372764.3_Intron|PLAU_ENST00000494287.1_Intron|C10orf55_ENST00000412307.2_Silent_p.I43I NM_001001791.2 NP_001001791.2 Q5SWW7 CJ055_HUMAN chromosome 10 open reading frame 55 43 endometrium(1) 1 Prostate(51;0.0112) TGGGACCTTTGATGAAGCCTC 0.537000 34 34 0 0 1 0 0 ATM 472 broad.mit.edu 37 11 108153497 108153497 + Missense_Mutation SNP C C A TCGA-S5-AA26-01A-11D-A38G-08 TCGA-S5-AA26-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0edef79b-466e-4362-af00-3961ea0d904c ae0ccd07-e2c8-42b5-b900-2ecfda4104d2 g.chr11:108153497C>A ENST00000278616.4 + 25 4022 c.3637C>A c.(3637-3639)Cat>Aat p.H1213N ATM_ENST00000452508.2_Missense_Mutation_p.H1213N NM_000051.3 NP_000042 Q13315 ATM_HUMAN ataxia telangiectasia mutated 1213 cell cycle arrest|cellular response to gamma radiation|DNA damage induced protein phosphorylation|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|double-strand break repair via homologous recombination|G2/M transition DNA damage checkpoint|histone mRNA catabolic process|mitotic cell cycle spindle assembly checkpoint|negative regulation of B cell proliferation|peptidyl-serine phosphorylation|positive regulation of DNA damage response, signal transduction by p53 class mediator|pre-B cell allelic exclusion|protein autophosphorylation|reciprocal meiotic recombination|replicative senescence cytoplasmic membrane-bounded vesicle|nucleoplasm 1-phosphatidylinositol-3-kinase activity|ATP binding|DNA binding|DNA-dependent protein kinase activity|identical protein binding|protein complex binding|protein dimerization activity|protein N-terminus binding NS(4)|breast(23)|central_nervous_system(11)|endometrium(10)|haematopoietic_and_lymphoid_tissue(227)|kidney(19)|large_intestine(53)|liver(5)|lung(62)|ovary(6)|pancreas(4)|prostate(13)|skin(4)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(3) 448 all_cancers(61;9.64e-12)|all_epithelial(67;9.97e-08)|Melanoma(852;2.55e-06)|Acute lymphoblastic leukemia(157;3.95e-05)|all_hematologic(158;0.00014)|Breast(348;0.0258)|all_neural(303;0.072) Epithelial(105;9.05e-06)|BRCA - Breast invasive adenocarcinoma(274;1.06e-05)|all cancers(92;0.000208)|Colorectal(284;0.116)|OV - Ovarian serous cystadenocarcinoma(223;0.147) TATGGCATCTCATTTAGATTA 0.294000 """D, Mis, N, F, S""" T-PLL """leukemia, lymphoma, medulloblastoma, glioma""" Genes defective in diseases associated with sensitivity to DNA damaging agents Ataxia Telangiectasia TSP Lung(14;0.12) 38 55 2.19358e-23 2.37105e-23 1 1 0 KIAA2018 205717 broad.mit.edu 37 3 113374159 113374159 + Missense_Mutation SNP C C T TCGA-S5-AA26-01A-11D-A38G-08 TCGA-S5-AA26-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0edef79b-466e-4362-af00-3961ea0d904c ae0ccd07-e2c8-42b5-b900-2ecfda4104d2 g.chr3:113374159C>T ENST00000316407.4 - 7 6780 c.6370G>A c.(6370-6372)Gat>Aat p.D2124N KIAA2018_ENST00000491165.1_Intron|KIAA2018_ENST00000478658.1_Missense_Mutation_p.D2124N NM_001009899.2 NP_001009899.2 Q68DE3 K2018_HUMAN KIAA2018 2124 regulation of transcription, DNA-dependent membrane|nucleus calcium ion binding|DNA binding|mannosyl-oligosaccharide 1,2-alpha-mannosidase activity NS(1)|breast(3)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(13)|liver(1)|lung(30)|ovary(8)|skin(5)|upper_aerodigestive_tract(4)|urinary_tract(2) 80 ATTGAAATATCATTGGACAGT 0.428000 40 66 0 0 1 0 0 TTI2 80185 broad.mit.edu 37 8 33369967 33369967 + Silent SNP G G T TCGA-S5-AA26-01A-11D-A38G-08 TCGA-S5-AA26-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0edef79b-466e-4362-af00-3961ea0d904c ae0ccd07-e2c8-42b5-b900-2ecfda4104d2 g.chr8:33369967G>T ENST00000431156.2 - 2 783 c.165C>A c.(163-165)ctC>ctA p.L55L TTI2_ENST00000520636.1_Silent_p.L55L|TTI2_ENST00000360742.5_Silent_p.L55L NM_001102401.2 NP_001095871.1 Q6NXR4 CH041_HUMAN TELO2 interacting protein 2 55 binding TTAGATCACCGAGGTCTTTAA 0.532000 32 49 1.836e-18 1.96546e-18 1 1 0 AFF4 27125 broad.mit.edu 37 5 132216777 132216777 + Missense_Mutation SNP G G A rs112871745 TCGA-S5-AA26-01A-11D-A38G-08 TCGA-S5-AA26-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0edef79b-466e-4362-af00-3961ea0d904c ae0ccd07-e2c8-42b5-b900-2ecfda4104d2 g.chr5:132216777G>A ENST00000265343.5 - 21 3845 c.3466C>T c.(3466-3468)Cgc>Tgc p.R1156C NM_014423.3 NP_055238.1 Q9UHB7 AFF4_HUMAN AF4/FMR2 family, member 4 1156 transcription from RNA polymerase II promoter mitochondrion|nucleolus protein binding|sequence-specific DNA binding transcription factor activity SEPT8/AFF4(2) breast(2)|central_nervous_system(2)|endometrium(6)|kidney(6)|large_intestine(7)|lung(11)|ovary(3)|pancreas(1)|prostate(3)|skin(2) 43 all_cancers(142;0.145)|Breast(839;0.198) KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365) GCATCCTGGCGAAGCCAGTGC 0.448000 33 33 0 0 1 0 0 MST1R 4486 broad.mit.edu 37 3 49927360 49927360 + Missense_Mutation SNP G G A TCGA-S5-AA26-01A-11D-A38G-08 TCGA-S5-AA26-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0edef79b-466e-4362-af00-3961ea0d904c ae0ccd07-e2c8-42b5-b900-2ecfda4104d2 g.chr3:49927360G>A ENST00000296474.3 - 19 3971 c.3944C>T c.(3943-3945)tCt>tTt p.S1315F MST1R_ENST00000344206.4_Missense_Mutation_p.S1266F NM_002447.2 NP_002438 Q04912 RON_HUMAN macrophage stimulating 1 receptor (c-met-related tyrosine kinase) 1315 Protein kinase. cellular component movement|defense response|multicellular organismal development|positive regulation of cell proliferation|single fertilization|transmembrane receptor protein tyrosine kinase signaling pathway integral to plasma membrane ATP binding|macrophage colony-stimulating factor receptor activity|protein binding cervix(1)|endometrium(5)|large_intestine(3)|lung(17)|ovary(5)|prostate(2)|skin(1)|urinary_tract(3) 37 BRCA - Breast invasive adenocarcinoma(193;4.65e-05)|KIRC - Kidney renal clear cell carcinoma(197;0.00553)|Kidney(197;0.00625) TACTCACAGAGAATCAGGGCA 0.597000 5 25 0 0 1 0 0 STAMBPL1 57559 broad.mit.edu 37 10 90661491 90661491 + Missense_Mutation SNP C C G TCGA-S5-AA26-01A-11D-A38G-08 TCGA-S5-AA26-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0edef79b-466e-4362-af00-3961ea0d904c ae0ccd07-e2c8-42b5-b900-2ecfda4104d2 g.chr10:90661491C>G ENST00000371927.3 + 2 984 c.26C>G c.(25-27)tCt>tGt p.S9C STAMBPL1_ENST00000371924.1_Missense_Mutation_p.S9C|STAMBPL1_ENST00000371926.3_Missense_Mutation_p.S9C Q96FJ0 STALP_HUMAN STAM binding protein-like 1 9 metal ion binding|metallopeptidase activity|protein binding breast(2)|endometrium(1)|large_intestine(2)|liver(2)|lung(2)|ovary(1)|skin(1) 11 Colorectal(252;0.0381) Colorectal(12;6.38e-05)|COAD - Colon adenocarcinoma(12;7.75e-05) ACTGTGAATTCTCTGGTAGGT 0.363000 33 48 0 0 1 0 0 CPNE7 27132 broad.mit.edu 37 16 89650455 89650455 + Missense_Mutation SNP C C T TCGA-S5-AA26-01A-11D-A38G-08 TCGA-S5-AA26-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0edef79b-466e-4362-af00-3961ea0d904c ae0ccd07-e2c8-42b5-b900-2ecfda4104d2 g.chr16:89650455C>T ENST00000268720.5 + 6 807 c.677C>T c.(676-678)tCg>tTg p.S226L CPNE7_ENST00000319518.8_Missense_Mutation_p.S151L NM_014427.4 NP_055242.1 Q9UBL6 CPNE7_HUMAN copine VII 226 lipid metabolic process transporter activity p.S226L(1) breast(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|lung(8)|ovary(2) 17 all_hematologic(23;0.0748) all cancers(4;3.63e-08)|OV - Ovarian serous cystadenocarcinoma(4;1.7e-06)|BRCA - Breast invasive adenocarcinoma(80;0.0147) GAGGACATCTCGGGGAACAAC 0.711000 17 25 0 0 1 0 0 DOCK6 57572 broad.mit.edu 37 19 11348134 11348134 + Missense_Mutation SNP C C T TCGA-S5-AA26-01A-11D-A38G-08 TCGA-S5-AA26-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0edef79b-466e-4362-af00-3961ea0d904c ae0ccd07-e2c8-42b5-b900-2ecfda4104d2 g.chr19:11348134C>T ENST00000294618.7 - 18 2082 c.2071G>A c.(2071-2073)Gat>Aat p.D691N DOCK6_ENST00000319867.7_5'UTR NM_020812.3 NP_065863.2 Q96HP0 DOCK6_HUMAN dedicator of cytokinesis 6 691 DHR-1. blood coagulation cytosol GTP binding|GTPase binding|guanyl-nucleotide exchange factor activity breast(1)|central_nervous_system(1)|endometrium(11)|large_intestine(8)|liver(2)|lung(9)|ovary(4)|prostate(1)|skin(1)|urinary_tract(1) 39 GCACATACATCGGGTGTGAGC 0.627000 18 20 0 0 1 0 0 ZNF770 54989 broad.mit.edu 37 15 35275196 35275196 + Missense_Mutation SNP G G T TCGA-S5-AA26-01A-11D-A38G-08 TCGA-S5-AA26-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0edef79b-466e-4362-af00-3961ea0d904c ae0ccd07-e2c8-42b5-b900-2ecfda4104d2 g.chr15:35275196G>T ENST00000356321.4 - 3 784 c.440C>A c.(439-441)tCt>tAt p.S147Y NM_014106.3 NP_054825.2 Q6IQ21 ZN770_HUMAN zinc finger protein 770 147 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding breast(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(2)|large_intestine(7)|lung(11)|ovary(1) 29 Lung NSC(122;4.59e-10)|all_lung(180;8.78e-09) all cancers(64;1.97e-18)|GBM - Glioblastoma multiforme(113;2.11e-07)|BRCA - Breast invasive adenocarcinoma(123;0.0643) CATGGGATCAGACTTAGAGCA 0.398000 45 60 9.84934e-19 1.05777e-18 1 1 0 KIAA1033 23325 broad.mit.edu 37 12 105553817 105553817 + Missense_Mutation SNP C C T TCGA-S5-AA26-01A-11D-A38G-08 TCGA-S5-AA26-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0edef79b-466e-4362-af00-3961ea0d904c ae0ccd07-e2c8-42b5-b900-2ecfda4104d2 g.chr12:105553817C>T ENST00000332180.5 + 29 3038 c.2951C>T c.(2950-2952)tCt>tTt p.S984F NM_015275.1 NP_056090.1 Q2M389 WAHS7_HUMAN KIAA1033 984 endosome transport WASH complex breast(3)|central_nervous_system(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(8)|lung(15)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2) 41 ACACGAAATTCTGCCGAAGGC 0.353000 4 94 0 0 1 0 0 PLK4 10733 broad.mit.edu 37 4 128819671 128819671 + Missense_Mutation SNP C C G TCGA-S5-AA26-01A-11D-A38G-08 TCGA-S5-AA26-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0edef79b-466e-4362-af00-3961ea0d904c ae0ccd07-e2c8-42b5-b900-2ecfda4104d2 g.chr4:128819671C>G ENST00000270861.5 + 16 3162 c.2888C>G c.(2887-2889)tCt>tGt p.S963C PLK4_ENST00000514379.1_Missense_Mutation_p.S922C|PLK4_ENST00000507249.1_Missense_Mutation_p.S902C|PLK4_ENST00000513090.1_Missense_Mutation_p.S931C|PLK4_ENST00000515069.1_Missense_Mutation_p.S885C NM_014264.4 NP_055079.3 O00444 PLK4_HUMAN polo-like kinase 4 963 G2/M transition of mitotic cell cycle|positive regulation of centriole replication|trophoblast giant cell differentiation centriole|cleavage furrow|cytosol|nucleolus ATP binding|protein binding|protein serine/threonine kinase activity|protein tyrosine kinase activity central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(10)|lung(12)|prostate(1)|upper_aerodigestive_tract(1) 31 TTGATGTTTTCTAATCCGACT 0.274000 42 61 0 0 1 0 0 ZBTB7B 51043 broad.mit.edu 37 1 154988787 154988787 + Missense_Mutation SNP G G C TCGA-S5-AA26-01A-11D-A38G-08 TCGA-S5-AA26-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0edef79b-466e-4362-af00-3961ea0d904c ae0ccd07-e2c8-42b5-b900-2ecfda4104d2 g.chr1:154988787G>C ENST00000368426.3 + 4 1383 c.1246G>C c.(1246-1248)Gac>Cac p.D416H ZBTB7B_ENST00000535420.1_Missense_Mutation_p.D416H|ZBTB7B_ENST00000417934.2_Missense_Mutation_p.D450H|ZBTB7B_ENST00000292176.2_Missense_Mutation_p.D416H NM_001256455.1 NP_001243384.1 O15156 ZBT7B_HUMAN zinc finger and BTB domain containing 7B 416 cell differentiation|ectoderm development|multicellular organismal development|regulation of transcription, DNA-dependent|transcription from RNA polymerase II promoter nucleus DNA binding|zinc ion binding endometrium(4)|kidney(1)|large_intestine(2)|liver(1)|lung(14)|ovary(1)|prostate(3)|skin(3) 29 all_epithelial(22;2.77e-30)|all_lung(78;4.1e-28)|all_hematologic(923;0.0359)|Hepatocellular(266;0.0877) BRCA - Breast invasive adenocarcinoma(34;0.00034) GCACAGCTACGACCTCAAGAA 0.627000 23 63 0 0 1 0 0 PCDHB12 56124 broad.mit.edu 37 5 140589928 140589928 + Silent SNP C C T TCGA-S5-AA26-01A-11D-A38G-08 TCGA-S5-AA26-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0edef79b-466e-4362-af00-3961ea0d904c ae0ccd07-e2c8-42b5-b900-2ecfda4104d2 g.chr5:140589928C>T ENST00000239450.2 + 1 1638 c.1449C>T c.(1447-1449)aaC>aaT p.N483N PCDHB12_ENST00000541609.1_Silent_p.N146N NM_018932.3 NP_061755.1 Q9Y5F1 PCDBC_HUMAN 483 Cadherin 5. homophilic cell adhesion|nervous system development integral to plasma membrane calcium ion binding NS(1)|breast(3)|endometrium(10)|large_intestine(17)|lung(38)|ovary(3)|pancreas(1)|prostate(2)|skin(7)|stomach(1) 83 KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339) CGGGCACCAACGCCCAGGTCA 0.647000 73 90 0 0 1 0 0 FIBP 9158 broad.mit.edu 37 11 65653032 65653032 + Silent SNP G G A TCGA-S5-AA26-01A-11D-A38G-08 TCGA-S5-AA26-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0edef79b-466e-4362-af00-3961ea0d904c ae0ccd07-e2c8-42b5-b900-2ecfda4104d2 g.chr11:65653032G>A ENST00000338369.2 - 5 727 c.615C>T c.(613-615)ctC>ctT p.L205L FIBP_ENST00000357519.4_Silent_p.L205L|FIBP_ENST00000533045.1_Silent_p.L202L NM_198897.1 NP_942600.1 O43427 FIBP_HUMAN fibroblast growth factor (acidic) intracellular binding protein 205 fibroblast growth factor receptor signaling pathway endomembrane system|membrane|microsome|mitochondrion|nucleus fibroblast growth factor binding endometrium(2)|kidney(1)|large_intestine(1)|lung(4)|ovary(1)|urinary_tract(1) 10 READ - Rectum adenocarcinoma(159;0.166) TTTGGATCATGAGCTCAGCGC 0.552000 OREG0021089 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 38 69 0 0 1 0 0 LYST 1130 broad.mit.edu 37 1 235956879 235956879 + Missense_Mutation SNP G G C TCGA-S5-AA26-01A-11D-A38G-08 TCGA-S5-AA26-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0edef79b-466e-4362-af00-3961ea0d904c ae0ccd07-e2c8-42b5-b900-2ecfda4104d2 g.chr1:235956879G>C ENST00000389794.3 - 11 4214 c.4040C>G c.(4039-4041)tCt>tGt p.S1347C LYST_ENST00000536965.1_Missense_Mutation_p.S1347C|LYST_ENST00000389793.2_Missense_Mutation_p.S1347C Q99698 LYST_HUMAN lysosomal trafficking regulator 1347 defense response to bacterium|defense response to protozoan|defense response to virus|endosome to lysosome transport via multivesicular body sorting pathway|leukocyte chemotaxis|mast cell secretory granule organization|melanosome organization|natural killer cell mediated cytotoxicity|protein transport cytoplasm|microtubule cytoskeleton protein binding NS(1)|breast(13)|central_nervous_system(3)|cervix(3)|endometrium(17)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(27)|lung(66)|ovary(7)|pancreas(1)|prostate(4)|skin(4)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(1) 162 Ovarian(103;0.0634)|Breast(184;0.23) all_cancers(173;0.00246)|Prostate(94;0.0771)|Acute lymphoblastic leukemia(190;0.228) OV - Ovarian serous cystadenocarcinoma(106;0.000674) ACTCATCAAAGATACCAAAAG 0.318000 58 69 0 0 1 0 0 SOX5 6660 broad.mit.edu 37 12 24048873 24048873 + Missense_Mutation SNP C C T TCGA-S5-AA26-01A-11D-A38G-08 TCGA-S5-AA26-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0edef79b-466e-4362-af00-3961ea0d904c ae0ccd07-e2c8-42b5-b900-2ecfda4104d2 g.chr12:24048873C>T ENST00000546136.1 - 1 87 c.85G>A c.(85-87)Gag>Aag p.E29K SOX5_ENST00000309359.1_Missense_Mutation_p.E29K|SOX5_ENST00000541536.1_Missense_Mutation_p.E29K|SOX5_ENST00000537393.1_Missense_Mutation_p.E42K|SOX5_ENST00000541847.1_Missense_Mutation_p.E32K|SOX5_ENST00000381381.2_Missense_Mutation_p.E29K|SOX5_ENST00000441133.2_Missense_Mutation_p.E42K|SOX5_ENST00000451604.2_Missense_Mutation_p.E42K|SOX5_ENST00000545921.1_Missense_Mutation_p.E32K P35711 SOX5_HUMAN SRY (sex determining region Y)-box 5 42 transcription from RNA polymerase II promoter nucleus DNA binding|protein binding|sequence-specific DNA binding transcription factor activity NS(1)|breast(3)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(10)|lung(25)|ovary(5)|skin(2)|upper_aerodigestive_tract(3) 57 TCACTCTCCTCTTCTTCCACT 0.522000 11 183 0 0 1 0 0 ZNF106 64397 broad.mit.edu 37 15 42749375 42749375 + Missense_Mutation SNP G G A TCGA-S5-AA26-01A-11D-A38G-08 TCGA-S5-AA26-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0edef79b-466e-4362-af00-3961ea0d904c ae0ccd07-e2c8-42b5-b900-2ecfda4104d2 g.chr15:42749375G>A ENST00000263805.4 - 1 355 c.29C>T c.(28-30)tCa>tTa p.S10L ZNF106_ENST00000565611.1_Intron|ZNF106_ENST00000565380.1_Intron NM_001284306.1|NM_001284307.1|NM_022473.1 NP_001271235.1|NP_001271236.1|NP_071918.1 zinc finger protein 106 AGAGGGAGATGAGGGACATTC 0.488000 21 28 0 0 1 0 0 IGHV3-48 28424 broad.mit.edu 37 14 106993867 106993867 + RNA SNP G G A TCGA-S5-AA26-01A-11D-A38G-08 TCGA-S5-AA26-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0edef79b-466e-4362-af00-3961ea0d904c ae0ccd07-e2c8-42b5-b900-2ecfda4104d2 g.chr14:106993867G>A ENST00000390624.2 - 0 376 TTCATTTGCAGATACAGTGAG 0.493000 8 139 0 0 1 0 0 OR14C36 127066 broad.mit.edu 37 1 248512294 248512294 + Missense_Mutation SNP C C G TCGA-S5-AA26-01A-11D-A38G-08 TCGA-S5-AA26-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0edef79b-466e-4362-af00-3961ea0d904c ae0ccd07-e2c8-42b5-b900-2ecfda4104d2 g.chr1:248512294C>G ENST00000317861.1 + 1 218 c.218C>G c.(217-219)tCt>tGt p.S73C NM_001001918.1 NP_001001918.1 Q8NHC7 O14CZ_HUMAN olfactory receptor, family 14, subfamily C, member 36 73 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity central_nervous_system(1)|endometrium(2)|large_intestine(4)|liver(2)|lung(20)|ovary(2)|prostate(3)|skin(7)|upper_aerodigestive_tract(2) 43 TGCTACATTTCTGTTACAGTC 0.478000 70 45 0 0 1 0 0 ECI1 1632 broad.mit.edu 37 16 2296929 2296929 + Silent SNP C C T TCGA-S5-AA26-01A-11D-A38G-08 TCGA-S5-AA26-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0edef79b-466e-4362-af00-3961ea0d904c ae0ccd07-e2c8-42b5-b900-2ecfda4104d2 g.chr16:2296929C>T ENST00000301729.4 - 3 272 c.225G>A c.(223-225)ctG>ctA p.L75L ECI1_ENST00000562238.1_Silent_p.L75L|ECI1_ENST00000570258.1_Silent_p.L16L NM_001919.3 NP_001910.2 P42126 ECI1_HUMAN enoyl-CoA delta isomerase 1 75 fatty acid beta-oxidation mitochondrial matrix dodecenoyl-CoA delta-isomerase activity endometrium(1)|large_intestine(2)|lung(6) 9 CCAGCTCCGTCAGAAACTCCA 0.532000 31 39 0 0 1 0 0 HDAC11 79885 broad.mit.edu 37 3 13545983 13545983 + Missense_Mutation SNP G G C TCGA-S5-AA26-01A-11D-A38G-08 TCGA-S5-AA26-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0edef79b-466e-4362-af00-3961ea0d904c ae0ccd07-e2c8-42b5-b900-2ecfda4104d2 g.chr3:13545983G>C ENST00000295757.3 + 10 1027 c.844G>C c.(844-846)Gat>Cat p.D282H HDAC11_ENST00000522202.1_Missense_Mutation_p.D231H|HDAC11_ENST00000402271.1_Missense_Mutation_p.D203H|HDAC11_ENST00000446613.2_Missense_Mutation_p.D90H|HDAC11_ENST00000402259.1_Missense_Mutation_p.D116H|HDAC11_ENST00000433119.1_3'UTR|HDAC11_ENST00000437379.2_Missense_Mutation_p.D254H|HDAC11_ENST00000404040.1_Missense_Mutation_p.D182H|HDAC11_ENST00000405025.1_3'UTR|HDAC11_ENST00000404548.1_3'UTR NM_024827.3 NP_079103.2 Q96DB2 HDA11_HUMAN histone deacetylase 11 282 Histone deacetylase. regulation of transcription, DNA-dependent|transcription, DNA-dependent histone deacetylase complex|plasma membrane histone deacetylase activity (H3-K16 specific)|NAD-dependent histone deacetylase activity (H3-K14 specific)|NAD-dependent histone deacetylase activity (H3-K9 specific)|NAD-dependent histone deacetylase activity (H4-K16 specific)|transcription factor binding breast(1)|endometrium(2)|large_intestine(1)|lung(2)|ovary(4)|prostate(3) 13 CGTGAAGCGGGATGAGCTGGT 0.632000 10 25 0 0 1 0 0 GLUD1 2746 broad.mit.edu 37 10 88819989 88819989 + Missense_Mutation SNP C C T TCGA-S5-AA26-01A-11D-A38G-08 TCGA-S5-AA26-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0edef79b-466e-4362-af00-3961ea0d904c ae0ccd07-e2c8-42b5-b900-2ecfda4104d2 g.chr10:88819989C>T ENST00000277865.4 - 9 1303 c.1207G>A c.(1207-1209)Gaa>Aaa p.E403K GLUD1_ENST00000537649.1_Missense_Mutation_p.E236K|GLUD1_ENST00000544149.1_Missense_Mutation_p.E270K NM_005271.3 NP_005262.1 P00367 DHE3_HUMAN glutamate dehydrogenase 1 403 glutamate biosynthetic process|glutamate catabolic process|positive regulation of insulin secretion mitochondrial matrix ADP binding|ATP binding|glutamate dehydrogenase|glutamate dehydrogenase activity|GTP binding|identical protein binding|leucine binding|NAD+ binding endometrium(3)|kidney(2)|large_intestine(4)|liver(1)|lung(11)|prostate(1) 22 L-Glutamic Acid(DB00142)|NADH(DB00157) TTGGCACCTTCAGCAATGATC 0.438000 51 183 0 0 1 0 0 PCDH17 27253 broad.mit.edu 37 13 58207726 58207726 + Missense_Mutation SNP C C T TCGA-S5-AA26-01A-11D-A38G-08 TCGA-S5-AA26-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0edef79b-466e-4362-af00-3961ea0d904c ae0ccd07-e2c8-42b5-b900-2ecfda4104d2 g.chr13:58207726C>T ENST00000377918.3 + 1 1072 c.1046C>T c.(1045-1047)cCg>cTg p.P349L NM_001040429.2 NP_001035519.1 O14917 PCD17_HUMAN protocadherin 17 349 Cadherin 3. homophilic cell adhesion integral to membrane|plasma membrane calcium ion binding|protein binding breast(2)|central_nervous_system(2)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(30)|liver(2)|lung(54)|ovary(4)|pancreas(2)|prostate(5)|skin(3)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(2) 120 Lung NSC(96;0.027)|Prostate(109;0.0453)|Breast(118;0.128)|Hepatocellular(98;0.132) GBM - Glioblastoma multiforme(99;1.06e-05) GACAATGCGCCGTCCATCGGT 0.667000 32 4 0 0 1 0 0 PAPD7 11044 broad.mit.edu 37 5 6751282 6751282 + Missense_Mutation SNP G G T TCGA-S5-AA26-01A-11D-A38G-08 TCGA-S5-AA26-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0edef79b-466e-4362-af00-3961ea0d904c ae0ccd07-e2c8-42b5-b900-2ecfda4104d2 g.chr5:6751282G>T ENST00000230859.6 + 11 1370 c.1241G>T c.(1240-1242)aGa>aTa p.R414I NM_001171805.1|NM_001171806.1|NM_006999.4 NP_001165276.1|NP_001165277.1|NP_008930.1 Q5XG87 PAPD7_HUMAN PAP associated domain containing 7 414 cell division|DNA replication|double-strand break repair|mitotic chromosome condensation|response to drug|sister chromatid cohesion nucleus DNA binding|DNA-directed DNA polymerase activity|metal ion binding|SMC protein binding cervix(1)|endometrium(2)|large_intestine(8)|lung(10)|ovary(2)|pancreas(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1) 27 ACCACTTCCAGAACACTGATC 0.577000 29 44 7.26314e-15 7.70124e-15 1 1 0 CPT1C 126129 broad.mit.edu 37 19 50214050 50214050 + Missense_Mutation SNP C C T TCGA-S5-AA26-01A-11D-A38G-08 TCGA-S5-AA26-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0edef79b-466e-4362-af00-3961ea0d904c ae0ccd07-e2c8-42b5-b900-2ecfda4104d2 g.chr19:50214050C>T ENST00000392518.4 + 16 2174 c.1802C>T c.(1801-1803)aCg>aTg p.T601M CPT1C_ENST00000598293.1_Missense_Mutation_p.T601M|CPT1C_ENST00000405931.2_Missense_Mutation_p.T590M|CPT1C_ENST00000323446.5_Missense_Mutation_p.T601M|CPT1C_ENST00000354199.5_Missense_Mutation_p.T601M NM_001199752.1 NP_001186681.1 Q8TCG5 CPT1C_HUMAN carnitine palmitoyltransferase 1C 601 fatty acid metabolic process integral to membrane|mitochondrial outer membrane carnitine O-palmitoyltransferase activity breast(1)|central_nervous_system(3)|endometrium(3)|kidney(1)|lung(12)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 27 all_lung(116;1.05e-05)|Lung NSC(112;3.77e-05)|all_neural(266;0.107)|Ovarian(192;0.231) OV - Ovarian serous cystadenocarcinoma(262;0.0011)|GBM - Glioblastoma multiforme(134;0.00786) CGGACGGAGACGGTGCGGTCT 0.582000 24 62 0 0 1 0 0 PCDHB6 56130 broad.mit.edu 37 5 140530815 140530815 + Missense_Mutation SNP C C T TCGA-S5-AA26-01A-11D-A38G-08 TCGA-S5-AA26-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0edef79b-466e-4362-af00-3961ea0d904c ae0ccd07-e2c8-42b5-b900-2ecfda4104d2 g.chr5:140530815C>T ENST00000231136.1 + 1 977 c.977C>T c.(976-978)tCa>tTa p.S326L PCDHB6_ENST00000543635.1_Missense_Mutation_p.S190L NM_018939.2 NP_061762.1 Q9Y5E3 PCDB6_HUMAN 326 Cadherin 3. calcium-dependent cell-cell adhesion|homophilic cell adhesion|synapse assembly|synaptic transmission integral to plasma membrane calcium ion binding cervix(1)|endometrium(14)|kidney(6)|large_intestine(16)|liver(1)|lung(33)|ovary(1)|pancreas(2)|prostate(1)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1) 84 KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339) GGAGGCCTATCAGGAAAATGC 0.468000 36 46 0 0 1 0 0 SLC22A20 440044 broad.mit.edu 37 11 64989954 64989954 + RNA SNP G G C TCGA-S5-AA26-01A-11D-A38G-08 TCGA-S5-AA26-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0edef79b-466e-4362-af00-3961ea0d904c ae0ccd07-e2c8-42b5-b900-2ecfda4104d2 g.chr11:64989954G>C ENST00000525437.1 + 0 852 A6NK97 S22AK_HUMAN ion transport integral to membrane transmembrane transporter activity central_nervous_system(1)|endometrium(2)|large_intestine(1)|lung(2)|prostate(2) 8 GTGGCTTCCAGAGTCATCCCG 0.552000 15 14 0 0 1 0 0 CEACAM3 1084 broad.mit.edu 37 19 42301715 42301715 + Missense_Mutation SNP C C G TCGA-S5-AA26-01A-11D-A38G-08 TCGA-S5-AA26-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0edef79b-466e-4362-af00-3961ea0d904c ae0ccd07-e2c8-42b5-b900-2ecfda4104d2 g.chr19:42301715C>G ENST00000357396.3 + 2 500 c.259C>G c.(259-261)Caa>Gaa p.Q87E CEACAM3_ENST00000344550.4_Missense_Mutation_p.Q87E|CEACAM3_ENST00000595255.1_3'UTR|CEACAM3_ENST00000221999.4_Missense_Mutation_p.Q87E NM_001815.2 NP_001806.2 P40198 CEAM3_HUMAN carcinoembryonic antigen-related cell adhesion molecule 3 87 Ig-like V-type. integral to membrane endometrium(2)|kidney(4)|large_intestine(1)|lung(4)|prostate(3)|skin(4)|stomach(1) 19 AATAGGAACTCAACAAGCTAC 0.473000 194 106 0 0 1 0 0 IGHV3-7 28452 broad.mit.edu 37 14 106518453 106518453 + RNA SNP G G A TCGA-S5-AA26-01A-11D-A38G-08 TCGA-S5-AA26-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0edef79b-466e-4362-af00-3961ea0d904c ae0ccd07-e2c8-42b5-b900-2ecfda4104d2 g.chr14:106518453G>A ENST00000390598.2 - 0 376 TTCATTTGCAGATACAGTGAG 0.512000 9 327 0 0 1 0 0 SH3GL3 6457 broad.mit.edu 37 15 84286884 84286884 + Missense_Mutation SNP G G C TCGA-S5-AA26-01A-11D-A38G-08 TCGA-S5-AA26-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0edef79b-466e-4362-af00-3961ea0d904c ae0ccd07-e2c8-42b5-b900-2ecfda4104d2 g.chr15:84286884G>C ENST00000324537.5 + 12 1405 c.913G>C c.(913-915)Gag>Cag p.E305Q SH3GL3_ENST00000427482.2_Missense_Mutation_p.E297Q|SH3GL3_ENST00000434347.1_Missense_Mutation_p.E305Q|SH3GL3_ENST00000564054.1_3'UTR|SH3GL3_ENST00000535412.1_3'UTR Q99963 SH3G3_HUMAN SH3-domain GRB2-like 3 297 SH3. central nervous system development|endocytosis|signal transduction early endosome membrane identical protein binding|lipid binding central_nervous_system(1)|endometrium(3)|large_intestine(9)|lung(11)|ovary(1)|pancreas(1)|skin(3)|urinary_tract(1) 30 CTATGACTTTGAGCCAGAAAA 0.398000 3 59 0 0 1 0 0 SELE 6401 broad.mit.edu 37 1 169698400 169698400 + Missense_Mutation SNP G G C TCGA-S5-AA26-01A-11D-A38G-08 TCGA-S5-AA26-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0edef79b-466e-4362-af00-3961ea0d904c ae0ccd07-e2c8-42b5-b900-2ecfda4104d2 g.chr1:169698400G>C ENST00000333360.7 - 7 1156 c.1017C>G c.(1015-1017)ttC>ttG p.F339L SELE_ENST00000367776.1_Missense_Mutation_p.F339L|SELE_ENST00000367779.4_Missense_Mutation_p.F339L|SELE_ENST00000367774.1_Missense_Mutation_p.F339L|SELE_ENST00000367782.4_Missense_Mutation_p.F339L|SELE_ENST00000367777.1_Missense_Mutation_p.F339L|SELE_ENST00000367775.1_Missense_Mutation_p.F277L|C1orf112_ENST00000498289.1_Intron|SELE_ENST00000367781.4_Missense_Mutation_p.F339L|SELE_ENST00000367780.4_Missense_Mutation_p.F277L NM_000450.2 NP_000441.2 P16581 LYAM2_HUMAN selectin E 339 Sushi 3. actin filament-based process|activation of phospholipase C activity|calcium-mediated signaling|heterophilic cell-cell adhesion|leukocyte migration involved in inflammatory response|leukocyte tethering or rolling|positive regulation of receptor internalization|regulation of inflammatory response|response to interleukin-1|response to lipopolysaccharide|response to tumor necrosis factor caveola|coated pit|cortical cytoskeleton|extracellular space|integral to membrane|perinuclear region of cytoplasm oligosaccharide binding|phospholipase binding|sialic acid binding|transmembrane receptor activity breast(1)|endometrium(1)|kidney(2)|large_intestine(5)|lung(12)|ovary(3)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(1) 32 all_hematologic(923;0.208) CCTGCAACATGAAGCCTTCCT 0.527000 23 65 0 0 1 0 0 ULBP1 80329 broad.mit.edu 37 6 150291163 150291163 + Missense_Mutation SNP C C G TCGA-S5-AA26-01A-11D-A38G-08 TCGA-S5-AA26-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0edef79b-466e-4362-af00-3961ea0d904c ae0ccd07-e2c8-42b5-b900-2ecfda4104d2 g.chr6:150291163C>G ENST00000229708.3 + 4 680 c.637C>G c.(637-639)Ctg>Gtg p.L213V NM_025218.2 NP_079494.1 Q9BZM6 N2DL1_HUMAN UL16 binding protein 1 antigen processing and presentation|immune response|natural killer cell activation|regulation of immune response anchored to membrane|endoplasmic reticulum|MHC class I protein complex MHC class I receptor activity large_intestine(3)|lung(5)|pancreas(1)|skin(1) 10 Ovarian(120;0.0907) BRCA - Breast invasive adenocarcinoma(37;0.193) OV - Ovarian serous cystadenocarcinoma(155;2.14e-11) ACCACCCTCTCTGGCCCCAGG 0.562000 8 8 0 0 1 0 0 SCN3A 6328 broad.mit.edu 37 2 165986710 165986710 + Missense_Mutation SNP C C G TCGA-S5-AA26-01A-11D-A38G-08 TCGA-S5-AA26-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0edef79b-466e-4362-af00-3961ea0d904c ae0ccd07-e2c8-42b5-b900-2ecfda4104d2 g.chr2:165986710C>G ENST00000360093.3 - 17 3153 c.2662G>C c.(2662-2664)Gtg>Ctg p.V888L SCN3A_ENST00000409101.3_Missense_Mutation_p.V839L|SCN3A_ENST00000283254.7_Missense_Mutation_p.V888L NM_001081677.1 NP_001075146.1 Q9NY46 SCN3A_HUMAN sodium channel, voltage-gated, type III, alpha subunit 888 voltage-gated sodium channel complex voltage-gated sodium channel activity NS(1)|breast(7)|central_nervous_system(2)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(19)|liver(2)|lung(47)|ovary(6)|prostate(3)|skin(10)|upper_aerodigestive_tract(4)|urinary_tract(3) 120 Lamotrigine(DB00555) ATGGCCAACACCAAGGTGAGG 0.443000 15 135 0 0 1 0 0 TNF 7124 broad.mit.edu 37 6 31544995 31544995 + Nonsense_Mutation SNP C C G TCGA-S5-AA26-01A-11D-A38G-08 TCGA-S5-AA26-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0edef79b-466e-4362-af00-3961ea0d904c ae0ccd07-e2c8-42b5-b900-2ecfda4104d2 g.chr6:31544995C>G ENST00000449264.2 + 4 558 c.383C>G c.(382-384)tCa>tGa p.S128* NM_000594.3 NP_000585.2 P01375 TNFA_HUMAN tumor necrosis factor 128 activation of caspase activity|activation of MAPK activity|activation of MAPKKK activity|anti-apoptosis|cellular response to nicotine|chronic inflammatory response to antigenic stimulus|embryonic digestive tract development|induction of apoptosis via death domain receptors|induction of necroptosis by extracellular signals|leukocyte tethering or rolling|necrotic cell death|negative regulation of branching involved in lung morphogenesis|negative regulation of cytokine secretion involved in immune response|negative regulation of fat cell differentiation|negative regulation of interleukin-6 production|negative regulation of lipid catabolic process|negative regulation of lipid storage|negative regulation of viral genome replication|positive regulation of calcidiol 1-monooxygenase activity|positive regulation of chemokine biosynthetic process|positive regulation of chemokine production|positive regulation of cytokine secretion|positive regulation of ERK1 and ERK2 cascade|positive regulation of fever generation|positive regulation of heterotypic cell-cell adhesion|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of membrane protein ectodomain proteolysis|positive regulation of NF-kappaB import into nucleus|positive regulation of NF-kappaB transcription factor activity|positive regulation of NFAT protein import into nucleus|positive regulation of nitric oxide biosynthetic process|positive regulation of osteoclast differentiation|positive regulation of peptidyl-serine phosphorylation|positive regulation of podosome assembly|positive regulation of protein complex disassembly|positive regulation of smooth muscle cell proliferation|positive regulation of transcription from RNA polymerase II promoter|positive regulation of vitamin D biosynthetic process|protein import into nucleus, translocation|receptor biosynthetic process|regulation of insulin secretion|response to glucocorticoid stimulus|response to salt stress|response to virus|sequestering of triglyceride|transformed cell apoptosis|tumor necrosis factor-mediated signaling pathway external side of plasma membrane|extracellular space|integral to plasma membrane|membrane raft|phagocytic cup|recycling endosome cytokine activity|identical protein binding|protease binding|transcription regulatory region DNA binding|tumor necrosis factor receptor binding large_intestine(1)|lung(2)|ovary(1)|pancreas(1)|skin(3) 8 Ovarian(999;0.00556) Adalimumab(DB00051)|Adenosine(DB00640)|Amrinone(DB01427)|Atorvastatin(DB01076)|Chloroquine(DB00608)|Clenbuterol(DB01407)|Etanercept(DB00005)|Glucosamine(DB01296)|Infliximab(DB00065)|Naltrexone(DB00704)|Pranlukast(DB01411)|Procaterol(DB01366)|Saquinavir(DB01232)|Simvastatin(DB00641)|Thalidomide(DB01041) GTGGTGCCATCAGAGGGCCTG 0.632000 Naso-/Oropharyngeal/Laryngeal Cancer, Familial Clustering of 45 49 0 0 1 0 0 AK8 158067 broad.mit.edu 37 9 135739089 135739089 + Missense_Mutation SNP G G A TCGA-S5-AA26-01A-11D-A38G-08 TCGA-S5-AA26-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0edef79b-466e-4362-af00-3961ea0d904c ae0ccd07-e2c8-42b5-b900-2ecfda4104d2 g.chr9:135739089G>A ENST00000298545.3 - 4 817 c.296C>T c.(295-297)aCg>aTg p.T99M AK8_ENST00000477396.1_5'UTR NM_152572.2 NP_689785.1 Q96MA6 KAD8_HUMAN adenylate kinase 8 99 cytosol adenylate kinase activity|ATP binding|cytidylate kinase activity NS(1)|kidney(2)|large_intestine(4)|lung(11)|pancreas(2)|prostate(1)|urinary_tract(2) 23 TTCGGTGGCCGTATAGGAAAA 0.532000 5 15 0 0 1 0 0 LCA5L 150082 broad.mit.edu 37 21 40777878 40777878 + Missense_Mutation SNP G G C TCGA-S5-AA26-01A-11D-A38G-08 TCGA-S5-AA26-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0edef79b-466e-4362-af00-3961ea0d904c ae0ccd07-e2c8-42b5-b900-2ecfda4104d2 g.chr21:40777878G>C ENST00000358268.2 - 10 2471 c.1943C>G c.(1942-1944)tCt>tGt p.S648C WRB_ENST00000541890.1_Intron|LCA5L_ENST00000288350.3_Missense_Mutation_p.S648C|LCA5L_ENST00000380671.2_Missense_Mutation_p.S648C O95447 LCA5L_HUMAN Leber congenital amaurosis 5-like 648 breast(1)|cervix(1)|endometrium(3)|large_intestine(8)|lung(4)|pancreas(2)|prostate(2)|skin(2)|urinary_tract(1) 24 Prostate(19;1.2e-06) AGTTACTTTAGAGTCTCCGAA 0.423000 36 28 0 0 1 0 0 SLC35B2 347734 broad.mit.edu 37 6 44222632 44222632 + Silent SNP G G A TCGA-S5-AA26-01A-11D-A38G-08 TCGA-S5-AA26-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0edef79b-466e-4362-af00-3961ea0d904c ae0ccd07-e2c8-42b5-b900-2ecfda4104d2 g.chr6:44222632G>A ENST00000393812.3 - 4 1253 c.1110C>T c.(1108-1110)atC>atT p.I370I SLC35B2_ENST00000495706.1_5'UTR|SLC35B2_ENST00000538577.1_Silent_p.I277I|SLC35B2_ENST00000393810.1_3'UTR|SLC35B2_ENST00000537814.1_Silent_p.I237I NM_178148.2 NP_835361.1 Q8TB61 S35B2_HUMAN solute carrier family 35 (adenosine 3'-phospho 5'-phosphosulfate transporter), member B2 370 positive regulation of I-kappaB kinase/NF-kappaB cascade Golgi membrane|integral to membrane 3'-phosphoadenosine 5'-phosphosulfate transmembrane transporter activity|signal transducer activity breast(1)|central_nervous_system(2)|kidney(3)|large_intestine(2)|lung(4)|ovary(2)|urinary_tract(1) 15 all_cancers(18;2e-05)|all_lung(25;0.00747)|Hepatocellular(11;0.00908)|Ovarian(13;0.0273) Colorectal(64;0.00337)|COAD - Colon adenocarcinoma(64;0.00536) GGAGGGTCATGATGATGGTGA 0.577000 13 16 0 0 1 0 0 LOC101927905 101927905 broad.mit.edu 37 12 8391338 8391338 + RNA SNP T T C TCGA-S5-AA26-01A-11D-A38G-08 TCGA-S5-AA26-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0edef79b-466e-4362-af00-3961ea0d904c ae0ccd07-e2c8-42b5-b900-2ecfda4104d2 g.chr12:8391338T>C ENST00000304751.9 + 0 591 FAM86FP_ENST00000427893.2_RNA p.K53R(1) CACAGGATGCTTCACAGTCTA 0.527000 3 50 0 0 1 0 0 SLC10A4 201780 broad.mit.edu 37 4 48485965 48485965 + Silent SNP C C T TCGA-S5-AA26-01A-11D-A38G-08 TCGA-S5-AA26-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0edef79b-466e-4362-af00-3961ea0d904c ae0ccd07-e2c8-42b5-b900-2ecfda4104d2 g.chr4:48485965C>T ENST00000273861.4 + 1 606 c.387C>T c.(385-387)ttC>ttT p.F129F NM_152679.3 NP_689892.1 Q96EP9 NTCP4_HUMAN solute carrier family 10, member 4 129 integral to membrane bile acid:sodium symporter activity central_nervous_system(1)|large_intestine(1)|lung(1)|ovary(1)|prostate(1)|urinary_tract(1) 6 TGAACCACTTCGGGGCGCACG 0.706000 4 1 0 0 1 0 0 KRT80 144501 broad.mit.edu 37 12 52585601 52585601 + Missense_Mutation SNP G G A TCGA-S5-AA26-01A-11D-A38G-08 TCGA-S5-AA26-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0edef79b-466e-4362-af00-3961ea0d904c ae0ccd07-e2c8-42b5-b900-2ecfda4104d2 g.chr12:52585601G>A ENST00000313234.5 - 1 183 c.86C>T c.(85-87)tCa>tTa p.S29L KRT80_ENST00000394815.2_Missense_Mutation_p.S29L NM_001081492.1 NP_001074961.1 Q6KB66 K2C80_HUMAN keratin 80 29 Head. keratin filament structural molecule activity endometrium(2)|large_intestine(2)|lung(1) 5 BRCA - Breast invasive adenocarcinoma(357;0.108) GTCCCATCCTGAGGTTCCAGG 0.706000 5 6 0 0 1 0 0 ZNF845 91664 broad.mit.edu 37 19 53856730 53856730 + Silent SNP G G A TCGA-S5-AA26-01A-11D-A38G-08 TCGA-S5-AA26-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0edef79b-466e-4362-af00-3961ea0d904c ae0ccd07-e2c8-42b5-b900-2ecfda4104d2 g.chr19:53856730G>A ENST00000458035.1 + 4 2919 c.2802G>A c.(2800-2802)aaG>aaA p.K934K ZNF845_ENST00000595091.1_Silent_p.K934K NM_138374.1 NP_612383.1 Q96IR2 ZN845_HUMAN zinc finger protein 845 934 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding p.K934K(3) endometrium(2)|kidney(10)|lung(7)|pancreas(1)|prostate(1)|skin(2)|stomach(1)|urinary_tract(2) 26 TAATTCATAAGACAATTCATA 0.368000 4 72 0 0 1 0 0 POLA1 5422 broad.mit.edu 37 X 24759500 24759500 + Missense_Mutation SNP C C G TCGA-S5-AA26-01A-11D-A38G-08 TCGA-S5-AA26-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0edef79b-466e-4362-af00-3961ea0d904c ae0ccd07-e2c8-42b5-b900-2ecfda4104d2 g.chrX:24759500C>G ENST00000379068.3 + 21 2268 c.2225C>G c.(2224-2226)tCt>tGt p.S742C POLA1_ENST00000379059.3_Missense_Mutation_p.S736C P09884 DPOLA_HUMAN polymerase (DNA directed), alpha 1, catalytic subunit 736 cell proliferation|DNA replication checkpoint|DNA replication, synthesis of RNA primer|DNA-dependent DNA replication initiation|double-strand break repair via nonhomologous end joining|interspecies interaction between organisms|lagging strand elongation|leading strand elongation|M/G1 transition of mitotic cell cycle|regulation of transcription involved in G1/S phase of mitotic cell cycle|S phase of mitotic cell cycle|telomere maintenance via recombination|telomere maintenance via semi-conservative replication alpha DNA polymerase:primase complex|cytoplasm|nuclear envelope|nuclear matrix|nucleolus|nucleoplasm chromatin binding|DNA-directed DNA polymerase activity|metal ion binding|nucleoside binding breast(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|ovary(2)|skin(2) 11 Clofarabine(DB00631)|Fludarabine(DB01073) AGTGAATCTTCTCAACTGTTA 0.338000 35 0 0 0 1 0 0 HPS4 89781 broad.mit.edu 37 22 26862217 26862217 + Silent SNP C C T TCGA-S5-AA26-01A-11D-A38G-08 TCGA-S5-AA26-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0edef79b-466e-4362-af00-3961ea0d904c ae0ccd07-e2c8-42b5-b900-2ecfda4104d2 g.chr22:26862217C>T ENST00000398145.2 - 9 1297 c.681G>A c.(679-681)acG>acA p.T227T HPS4_ENST00000336873.5_Silent_p.T227T|HPS4_ENST00000398141.1_Silent_p.T222T|HPS4_ENST00000402105.3_Silent_p.T222T NM_022081.5 NP_071364.4 Q9NQG7 HPS4_HUMAN Hermansky-Pudlak syndrome 4 227 lysosome organization|positive regulation of eye pigmentation|protein stabilization|protein targeting lysosome|melanosome|membrane fraction|platelet dense granule protein homodimerization activity breast(2)|endometrium(3)|kidney(5)|large_intestine(4)|lung(12)|pancreas(1)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1) 32 CATCCTCTCCCGTAGGGAGTC 0.512000 Hermansky-Pudlak syndrome 13 29 0 0 1 0 0 CD93 22918 broad.mit.edu 37 20 23066384 23066384 + Missense_Mutation SNP G G C TCGA-S5-AA26-01A-11D-A38G-08 TCGA-S5-AA26-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0edef79b-466e-4362-af00-3961ea0d904c ae0ccd07-e2c8-42b5-b900-2ecfda4104d2 g.chr20:23066384G>C ENST00000246006.4 - 1 593 c.446C>G c.(445-447)tCc>tGc p.S149C NM_012072.3 NP_036204.2 Q9NPY3 C1QR1_HUMAN CD93 molecule 149 C-type lectin. cell-cell adhesion|interspecies interaction between organisms|macrophage activation|phagocytosis plasma membrane calcium ion binding|complement component C1q binding|receptor activity|sugar binding NS(2)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(10)|lung(14)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1) 39 Colorectal(13;0.0352)|Lung NSC(19;0.0542)|all_lung(19;0.118) GAGCGGCTGGGACAGGTCCAG 0.642000 8 16 0 0 1 0 0 GLUD1 2746 broad.mit.edu 37 10 88818977 88818977 + Silent SNP C C T TCGA-S5-AA26-01A-11D-A38G-08 TCGA-S5-AA26-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0edef79b-466e-4362-af00-3961ea0d904c ae0ccd07-e2c8-42b5-b900-2ecfda4104d2 g.chr10:88818977C>T ENST00000277865.4 - 10 1428 c.1332G>A c.(1330-1332)aaG>aaA p.K444K GLUD1_ENST00000537649.1_Silent_p.K277K|GLUD1_ENST00000544149.1_Silent_p.K311K NM_005271.3 NP_005262.1 P00367 DHE3_HUMAN glutamate dehydrogenase 1 444 glutamate biosynthetic process|glutamate catabolic process|positive regulation of insulin secretion mitochondrial matrix ADP binding|ATP binding|glutamate dehydrogenase|glutamate dehydrogenase activity|GTP binding|identical protein binding|leucine binding|NAD+ binding endometrium(3)|kidney(2)|large_intestine(4)|liver(1)|lung(11)|prostate(1) 22 L-Glutamic Acid(DB00142)|NADH(DB00157) GATTTAGATTCTTCAGCCACT 0.383000 36 179 0 0 1 0 0 RPL7L1 285855 broad.mit.edu 37 6 42854069 42854069 + Missense_Mutation SNP C C T TCGA-S5-AA26-01A-11D-A38G-08 TCGA-S5-AA26-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0edef79b-466e-4362-af00-3961ea0d904c ae0ccd07-e2c8-42b5-b900-2ecfda4104d2 g.chr6:42854069C>T ENST00000493763.1 + 6 911 c.608C>T c.(607-609)tCa>tTa p.S203L RPL7L1_ENST00000304734.5_Missense_Mutation_p.S203L|RPL7L1_ENST00000424341.2_3'UTR|RPL7L1_ENST00000397415.3_3'UTR NM_198486.2 NP_940888.2 Q6DKI1 RL7L_HUMAN ribosomal protein L7-like 1 203 translation large ribosomal subunit protein binding|structural constituent of ribosome breast(1)|endometrium(1)|large_intestine(1)|lung(3) 6 Colorectal(47;0.196) Colorectal(64;0.00237)|all cancers(41;0.00288)|COAD - Colon adenocarcinoma(64;0.00473)|KIRC - Kidney renal clear cell carcinoma(15;0.02)|Kidney(15;0.0388)|OV - Ovarian serous cystadenocarcinoma(102;0.088) CAGGAGATCTCATGGTTCTTG 0.493000 37 32 0 0 1 0 0 USP54 159195 broad.mit.edu 37 10 75283496 75283496 + Missense_Mutation SNP G G A TCGA-S5-AA26-01A-11D-A38G-08 TCGA-S5-AA26-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0edef79b-466e-4362-af00-3961ea0d904c ae0ccd07-e2c8-42b5-b900-2ecfda4104d2 g.chr10:75283496G>A ENST00000339859.4 - 16 2307 c.2207C>T c.(2206-2208)tCt>tTt p.S736F USP54_ENST00000394811.2_5'UTR|USP54_ENST00000497106.1_5'UTR|USP54_ENST00000428547.1_Missense_Mutation_p.S586F|USP54_ENST00000408019.1_Missense_Mutation_p.S736F Q70EL1 UBP54_HUMAN ubiquitin specific peptidase 54 736 ubiquitin-dependent protein catabolic process protein binding|ubiquitin thiolesterase activity breast(5)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(5)|lung(12)|ovary(1)|prostate(1) 30 Prostate(51;0.0112) ACTTTTAGAAGATATCTCCTC 0.438000 62 90 0 0 1 0 0 ZNF587B 100293516 broad.mit.edu 37 19 58353095 58353095 + Missense_Mutation SNP G G C TCGA-S5-AA26-01A-11D-A38G-08 TCGA-S5-AA26-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0edef79b-466e-4362-af00-3961ea0d904c ae0ccd07-e2c8-42b5-b900-2ecfda4104d2 g.chr19:58353095G>C ENST00000442832.4 + 3 1287 c.1053G>C c.(1051-1053)gaG>gaC p.E351D ZNF587B_ENST00000316462.4_Intron|ZNF587B_ENST00000594901.1_Missense_Mutation_p.E351D|CTD-2583A14.10_ENST00000598031.1_Intron NM_001204818.1 NP_001191747.1 B4DR41 B4DR41_HUMAN zinc finger protein 587B 351 regulation of transcription, DNA-dependent intracellular nucleic acid binding|zinc ion binding ACACTGGAGAGAGACCTTACA 0.443000 12 17 0 0 1 0 0 NUFIP1 26747 broad.mit.edu 37 13 45553354 45553354 + Missense_Mutation SNP T T G TCGA-S5-AA26-01A-11D-A38G-08 TCGA-S5-AA26-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0edef79b-466e-4362-af00-3961ea0d904c ae0ccd07-e2c8-42b5-b900-2ecfda4104d2 g.chr13:45553354T>G ENST00000379161.4 - 5 751 c.705A>C c.(703-705)gaA>gaC p.E235D NM_012345.2 NP_036477.2 Q9UHK0 NUFP1_HUMAN nuclear fragile X mental retardation protein interacting protein 1 235 box C/D snoRNP assembly|positive regulation of transcription from RNA polymerase II promoter|RNA processing actin cytoskeleton|cytosolic ribosome|nuclear matrix|nucleolus|perichromatin fibrils|pre-snoRNP complex|presynaptic active zone|transcription elongation factor complex DNA binding|identical protein binding|protein binding, bridging|RNA binding|zinc ion binding breast(2)|cervix(1)|endometrium(2)|large_intestine(2)|lung(4)|prostate(4)|skin(3) 18 Lung NSC(96;8.23e-05)|Breast(139;0.00378)|Prostate(109;0.0107)|all_hematologic(4;0.014)|Lung SC(185;0.0262)|Hepatocellular(98;0.0524)|Acute lymphoblastic leukemia(4;0.143) KIRC - Kidney renal clear cell carcinoma(16;0.234) GBM - Glioblastoma multiforme(144;0.000306)|BRCA - Breast invasive adenocarcinoma(63;0.125) ACCGTGCAATTTCCTCTGGAG 0.413000 40 4 0 0 1 0 0 CNTNAP2 26047 broad.mit.edu 37 7 146471409 146471409 + Missense_Mutation SNP C C A TCGA-S5-AA26-01A-11D-A38G-08 TCGA-S5-AA26-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0edef79b-466e-4362-af00-3961ea0d904c ae0ccd07-e2c8-42b5-b900-2ecfda4104d2 g.chr7:146471409C>A ENST00000361727.3 + 2 660 c.144C>A c.(142-144)ttC>ttA p.F48L NM_014141.5 NP_054860.1 Q9UHC6 CNTP2_HUMAN contactin associated protein-like 2 48 F5/8 type C. behavior|cell adhesion|clustering of voltage-gated potassium channels|limbic system development|neuron recognition|signal transduction|striatum development|superior temporal gyrus development|thalamus development|transmission of nerve impulse axolemma|cell body fiber|dendrite|juxtaparanode region of axon|voltage-gated potassium channel complex receptor binding NS(3)|breast(2)|central_nervous_system(3)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(21)|lung(105)|ovary(9)|pancreas(2)|prostate(5)|skin(7)|stomach(3)|upper_aerodigestive_tract(6)|urinary_tract(3) 188 Melanoma(164;0.153) all_cancers(3;3.51e-10)|all_epithelial(3;1.4e-05)|Myeloproliferative disorder(3;0.00452)|Lung NSC(3;0.0067)|all_lung(3;0.00794) OV - Ovarian serous cystadenocarcinoma(82;0.0319) ATGTGGCTTTCAGCAGCTCCT 0.428000 HNSCC(39;0.1) 17 28 0.000422831 0.000426664 1 1 0 SLC17A2 10246 broad.mit.edu 37 6 25916039 25916039 + Missense_Mutation SNP C C T TCGA-S5-AA26-01A-11D-A38G-08 TCGA-S5-AA26-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0edef79b-466e-4362-af00-3961ea0d904c ae0ccd07-e2c8-42b5-b900-2ecfda4104d2 g.chr6:25916039C>T ENST00000377850.3 - 9 1512 c.988G>A c.(988-990)Ggt>Agt p.G330S SLC17A2_ENST00000360488.3_Missense_Mutation_p.G330S|SLC17A2_ENST00000265425.3_Missense_Mutation_p.G330S O00624 NPT3_HUMAN solute carrier family 17, member 2 330 phosphate metabolic process integral to plasma membrane|membrane fraction sodium:phosphate symporter activity endometrium(3)|kidney(1)|large_intestine(9)|lung(12)|ovary(2)|skin(3)|upper_aerodigestive_tract(1) 31 GCCAGCTGACCTCCTAAAATT 0.438000 18 25 0 0 1 0 0 LPIN1 23175 broad.mit.edu 37 2 11959632 11959632 + Missense_Mutation SNP G G C TCGA-S5-AA26-01A-11D-A38G-08 TCGA-S5-AA26-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0edef79b-466e-4362-af00-3961ea0d904c ae0ccd07-e2c8-42b5-b900-2ecfda4104d2 g.chr2:11959632G>C ENST00000256720.2 + 18 2410 c.2317G>C c.(2317-2319)Gaa>Caa p.E773Q LPIN1_ENST00000425416.2_Missense_Mutation_p.E779Q|LPIN1_ENST00000396099.1_Missense_Mutation_p.E815Q|LPIN1_ENST00000396097.1_Missense_Mutation_p.E503Q|LPIN1_ENST00000404113.2_Missense_Mutation_p.E274Q|LPIN1_ENST00000449576.2_Missense_Mutation_p.E858Q NM_145693.2 NP_663731.1 Q14693 LPIN1_HUMAN lipin 1 773 C-LIP. fatty acid catabolic process|transcription, DNA-dependent|triglyceride biosynthetic process|triglyceride mobilization cytosol|endoplasmic reticulum membrane phosphatidate phosphatase activity autonomic_ganglia(1)|breast(1)|cervix(1)|endometrium(2)|kidney(5)|large_intestine(15)|liver(1)|lung(10)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2) 45 all_hematologic(175;0.127)|Acute lymphoblastic leukemia(172;0.155) Epithelial(75;0.11)|OV - Ovarian serous cystadenocarcinoma(76;0.173) AAAGAAGCCAGAAAAGTTTAA 0.373000 79 7 0 0 1 0 0 COL7A1 1294 broad.mit.edu 37 3 48628141 48628141 + Missense_Mutation SNP C C A TCGA-S5-AA26-01A-11D-A38G-08 TCGA-S5-AA26-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0edef79b-466e-4362-af00-3961ea0d904c ae0ccd07-e2c8-42b5-b900-2ecfda4104d2 g.chr3:48628141C>A ENST00000328333.8 - 13 1852 c.1745G>T c.(1744-1746)cGt>cTt p.R582L COL7A1_ENST00000454817.1_Missense_Mutation_p.R582L NM_000094.3 NP_000085.1 Q02388 CO7A1_HUMAN collagen, type VII, alpha 1 582 Fibronectin type-III 4.|Nonhelical region (NC1). cell adhesion|epidermis development basement membrane|collagen type VII protein binding|serine-type endopeptidase inhibitor activity NS(3)|breast(8)|central_nervous_system(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(18)|lung(57)|ovary(7)|prostate(5)|skin(9)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(5) 137 BRCA - Breast invasive adenocarcinoma(193;0.000293)|KIRC - Kidney renal clear cell carcinoma(197;0.00558)|Kidney(197;0.00632) ACTGCCCTCACGGGGACCCAC 0.617000 24 29 1.64293e-13 1.73652e-13 1 1 0 XPR1 9213 broad.mit.edu 37 1 180832932 180832932 + Silent SNP C C G TCGA-S5-AA26-01A-11D-A38G-08 TCGA-S5-AA26-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0edef79b-466e-4362-af00-3961ea0d904c ae0ccd07-e2c8-42b5-b900-2ecfda4104d2 g.chr1:180832932C>G ENST00000367590.4 + 12 1788 c.1590C>G c.(1588-1590)ctC>ctG p.L530L XPR1_ENST00000367589.3_Silent_p.L465L NM_004736.3 NP_004727.2 Q9UBH6 XPR1_HUMAN xenotropic and polytropic retrovirus receptor 1 530 EXS. integral to plasma membrane G-protein coupled receptor activity breast(1)|endometrium(3)|kidney(2)|large_intestine(15)|lung(7)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(5) 35 TCTGGGATCTCAAGATGGACT 0.428000 53 138 0 0 1 0 0 TTC3 7267 broad.mit.edu 37 21 38528993 38528993 + Missense_Mutation SNP G G T TCGA-S5-AA26-01A-11D-A38G-08 TCGA-S5-AA26-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0edef79b-466e-4362-af00-3961ea0d904c ae0ccd07-e2c8-42b5-b900-2ecfda4104d2 g.chr21:38528993G>T ENST00000399017.2 + 28 5524 c.2777G>T c.(2776-2778)gGa>gTa p.G926V TTC3_ENST00000355666.1_Missense_Mutation_p.G926V|TTC3_ENST00000354749.2_Missense_Mutation_p.G926V|TTC3_ENST00000479930.1_3'UTR NM_003316.3 NP_003307.3 P53804 TTC3_HUMAN tetratricopeptide repeat domain 3 926 protein K48-linked ubiquitination|ubiquitin-dependent protein catabolic process nucleus protein binding|ubiquitin-protein ligase activity|zinc ion binding breast(5)|endometrium(7)|kidney(5)|large_intestine(17)|liver(1)|lung(18)|ovary(4)|prostate(2)|skin(9)|upper_aerodigestive_tract(2)|urinary_tract(5) 75 Myeloproliferative disorder(46;0.0412) TCTCGTTATGGAGCATCTCTT 0.338000 29 44 0.000184323 0.000187125 1 1 0 ZNF320 162967 broad.mit.edu 37 19 53384382 53384382 + Missense_Mutation SNP C C T TCGA-S5-AA26-01A-11D-A38G-08 TCGA-S5-AA26-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0edef79b-466e-4362-af00-3961ea0d904c ae0ccd07-e2c8-42b5-b900-2ecfda4104d2 g.chr19:53384382C>T ENST00000595635.1 - 8 1498 c.997G>A c.(997-999)Gaa>Aaa p.E333K ZNF320_ENST00000600930.1_Intron|ZNF320_ENST00000391781.2_Missense_Mutation_p.E333K|ZNF320_ENST00000597909.1_Intron NM_207333.2 NP_997216.2 A2RRD8 ZN320_HUMAN zinc finger protein 320 333 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding NS(1)|endometrium(2)|kidney(4)|large_intestine(5)|liver(1)|lung(10)|urinary_tract(1) 24 GBM - Glioblastoma multiforme(134;0.0534) TTGTCGCATTCTTCACATCTG 0.403000 41 139 0 0 1 0 0 DDX21 9188 broad.mit.edu 37 10 70738725 70738725 + Missense_Mutation SNP G G A TCGA-S5-AA26-01A-11D-A38G-08 TCGA-S5-AA26-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0edef79b-466e-4362-af00-3961ea0d904c ae0ccd07-e2c8-42b5-b900-2ecfda4104d2 g.chr10:70738725G>A ENST00000354185.4 + 13 2128 c.2030G>A c.(2029-2031)gGa>gAa p.G677E NM_001256910.1|NM_004728.3 NP_001243839.1|NP_004719.2 Q9NR30 DDX21_HUMAN DEAD (Asp-Glu-Ala-Asp) box helicase 21 677 nucleolus ATP binding|ATP-dependent RNA helicase activity|protein binding|RNA binding breast(1)|endometrium(2)|kidney(3)|large_intestine(4)|lung(6)|ovary(2)|stomach(1)|upper_aerodigestive_tract(1) 20 TTTCTCAAAGGAAAGCTGGTA 0.453000 39 61 0 0 1 0 0 CDC42BPB 9578 broad.mit.edu 37 14 103410617 103410617 + Missense_Mutation SNP G G C TCGA-S5-AA26-01A-11D-A38G-08 TCGA-S5-AA26-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0edef79b-466e-4362-af00-3961ea0d904c ae0ccd07-e2c8-42b5-b900-2ecfda4104d2 g.chr14:103410617G>C ENST00000361246.2 - 30 4307 c.4019C>G c.(4018-4020)tCt>tGt p.S1340C NM_006035.3 NP_006026.3 Q9Y5S2 MRCKB_HUMAN CDC42 binding protein kinase beta (DMPK-like) 1340 CNH. actin cytoskeleton reorganization|establishment or maintenance of cell polarity|intracellular signal transduction cell leading edge|cell-cell junction|cytoplasm|cytoskeleton ATP binding|magnesium ion binding|protein serine/threonine kinase activity|small GTPase regulator activity NS(1)|breast(4)|central_nervous_system(1)|endometrium(6)|kidney(3)|large_intestine(11)|liver(1)|lung(14)|ovary(2)|prostate(2)|skin(3)|stomach(1) 49 Melanoma(154;0.155) Colorectal(3;0.0129)|READ - Rectum adenocarcinoma(2;0.0419)|Epithelial(152;0.0474)|all cancers(159;0.199) GCAGGTGCCAGAGTTCCTCTT 0.547000 27 25 0 0 1 0 0 BRCA2 675 broad.mit.edu 37 13 32972790 32972790 + Silent SNP C C G TCGA-S5-AA26-01A-11D-A38G-08 TCGA-S5-AA26-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0edef79b-466e-4362-af00-3961ea0d904c ae0ccd07-e2c8-42b5-b900-2ecfda4104d2 g.chr13:32972790C>G ENST00000544455.1 + 27 10367 c.10140C>G c.(10138-10140)ctC>ctG p.L3380L BRCA2_ENST00000380152.3_Silent_p.L3380L NM_000059.3 NP_000050 P51587 BRCA2_HUMAN breast cancer 2, early onset 3380 cell cycle cytokinesis|centrosome duplication|double-strand break repair via homologous recombination|negative regulation of mammary gland epithelial cell proliferation|nucleotide-excision repair|positive regulation of transcription, DNA-dependent|regulation of S phase of mitotic cell cycle BRCA2-MAGE-D1 complex|centrosome|nucleoplasm|stored secretory granule gamma-tubulin binding|H3 histone acetyltransferase activity|H4 histone acetyltransferase activity|protease binding|single-stranded DNA binding NS(3)|breast(13)|central_nervous_system(5)|cervix(2)|endometrium(24)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(32)|liver(1)|lung(41)|oesophagus(5)|ovary(22)|pancreas(4)|prostate(3)|salivary_gland(1)|skin(11)|upper_aerodigestive_tract(2)|urinary_tract(3) 183 Lung SC(185;0.0262) all cancers(112;7.13e-07)|Epithelial(112;1.59e-05)|OV - Ovarian serous cystadenocarcinoma(117;0.000732)|BRCA - Breast invasive adenocarcinoma(63;0.0291)|GBM - Glioblastoma multiforme(144;0.0704) AAGATTATCTCAGACTGAAAC 0.408000 """D, Mis, N, F, S""" """breast, ovarian, pancreatic""" """breast, ovarian, pancreatic, leukemia (FANCB, FANCD1)""" Homologous recombination Pancreatic Cancer, Familial Clustering of;Li-Fraumeni syndrome;Hereditary Prostate Cancer;Hereditary Breast-Ovarian Cancer, BRCA2 type;Fanconi Anemia type D1, bi-allelic BRCA2 mutations;Fanconi Anemia TCGA Ovarian(8;0.087) 3 62 0 0 1 0 0 SEPW1 6415 broad.mit.edu 37 19 48282063 48282063 + Silent SNP C C G TCGA-S5-AA26-01A-11D-A38G-08 TCGA-S5-AA26-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0edef79b-466e-4362-af00-3961ea0d904c ae0ccd07-e2c8-42b5-b900-2ecfda4104d2 g.chr19:48282063C>G ENST00000601048.1 + 1 235 c.21C>G c.(19-21)gtC>gtG p.V7V SEPW1_ENST00000595615.1_Silent_p.V7V|SEPW1_ENST00000593892.1_Silent_p.V7V|SEPW1_ENST00000509570.2_Silent_p.V7V|SEPW1_ENST00000601419.1_3'UTR NM_003009.2 NP_003000.1 P63302 SELW_HUMAN selenoprotein W, 1 7 cell redox homeostasis cytoplasm selenium binding endometrium(1)|kidney(1)|lung(2) 4 all_cancers(25;3.02e-09)|all_epithelial(76;7e-07)|all_lung(116;2.48e-06)|Lung NSC(112;5.15e-06)|Ovarian(192;0.0139)|all_neural(266;0.0146)|Breast(70;0.133) all cancers(93;0.000291)|OV - Ovarian serous cystadenocarcinoma(262;0.000305)|Epithelial(262;0.0146)|GBM - Glioblastoma multiforme(486;0.0273) CCGTCCGAGTCGTTTATTGGT 0.721000 12 7 0 0 1 0 0 ZNF580 51157 broad.mit.edu 37 19 56154289 56154289 + Missense_Mutation SNP C C G TCGA-S5-AA26-01A-11D-A38G-08 TCGA-S5-AA26-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0edef79b-466e-4362-af00-3961ea0d904c ae0ccd07-e2c8-42b5-b900-2ecfda4104d2 g.chr19:56154289C>G ENST00000543039.1 + 1 872 c.415C>G c.(415-417)Cgc>Ggc p.R139G ZNF580_ENST00000545125.1_Missense_Mutation_p.R139G|ZNF580_ENST00000325333.5_Missense_Mutation_p.R139G|ZNF581_ENST00000587252.1_Intron NM_016202.2 NP_057286.1 Q9UK33 ZN580_HUMAN zinc finger protein 580 139 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding lung(1)|upper_aerodigestive_tract(1) 2 BRCA - Breast invasive adenocarcinoma(297;0.18) GBM - Glioblastoma multiforme(193;0.105) GTCGCGGCATCGCGCCACGCA 0.756000 4 2 0 0 1 0 0 ZNF845 91664 broad.mit.edu 37 19 53856702 53856702 + Missense_Mutation SNP G G A rs150688663 by1000genomes TCGA-S5-AA26-01A-11D-A38G-08 TCGA-S5-AA26-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0edef79b-466e-4362-af00-3961ea0d904c ae0ccd07-e2c8-42b5-b900-2ecfda4104d2 g.chr19:53856702G>A ENST00000458035.1 + 4 2891 c.2774G>A c.(2773-2775)cGt>cAt p.R925H ZNF845_ENST00000595091.1_Missense_Mutation_p.R925H NM_138374.1 NP_612383.1 Q96IR2 ZN845_HUMAN zinc finger protein 845 925 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding p.R925H(3) endometrium(2)|kidney(10)|lung(7)|pancreas(1)|prostate(1)|skin(2)|stomach(1)|urinary_tract(2) 26 AAAACCTTCCGTCACAATTCA 0.363000 4 82 0 0 1 0 0 SRGAP3 9901 broad.mit.edu 37 3 9106168 9106168 + Missense_Mutation SNP G G A TCGA-S5-AA26-01A-11D-A38G-08 TCGA-S5-AA26-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0edef79b-466e-4362-af00-3961ea0d904c ae0ccd07-e2c8-42b5-b900-2ecfda4104d2 g.chr3:9106168G>A ENST00000383836.3 - 5 1011 c.584C>T c.(583-585)tCa>tTa p.S195L SRGAP3_ENST00000360413.3_Missense_Mutation_p.S195L|SRGAP3_ENST00000433332.3_5'UTR NM_014850.3 NP_055665.1 O43295 SRGP2_HUMAN SLIT-ROBO Rho GTPase activating protein 3 195 regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction cytosol GTPase activator activity|protein binding SRGAP3/RAF1(6) breast(1)|endometrium(2)|kidney(21)|large_intestine(7)|lung(13)|prostate(3)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1) 54 OV - Ovarian serous cystadenocarcinoma(96;0.0563) GAGGTCTCCTGACTTATTGAA 0.552000 T RAF1 pilocytic astrocytoma 40 55 0 0 1 0 0 FAM208B 54906 broad.mit.edu 37 10 5791913 5791913 + Missense_Mutation SNP G G C TCGA-S5-AA26-01A-11D-A38G-08 TCGA-S5-AA26-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0edef79b-466e-4362-af00-3961ea0d904c ae0ccd07-e2c8-42b5-b900-2ecfda4104d2 g.chr10:5791913G>C ENST00000328090.5 + 15 7154 c.6529G>C c.(6529-6531)Gtg>Ctg p.V2177L NM_017782.4 NP_060252 Q5VWN6 CJ018_HUMAN family with sequence similarity 208, member B 2177 AAGAAGTGTTGTGAAAGAGGC 0.428000 18 15 0 0 1 0 0 WNT11 7481 broad.mit.edu 37 11 75907749 75907749 + Missense_Mutation SNP T T C TCGA-S5-AA26-01A-11D-A38G-08 TCGA-S5-AA26-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0edef79b-466e-4362-af00-3961ea0d904c ae0ccd07-e2c8-42b5-b900-2ecfda4104d2 g.chr11:75907749T>C ENST00000322563.3 - 2 221 c.97A>G c.(97-99)Aca>Gca p.T33A NM_004626.2 NP_004617.2 O96014 WNT11_HUMAN wingless-type MMTV integration site family, member 11 33 adrenal gland development|anterior/posterior pattern formation|artery morphogenesis|axis specification|bone mineralization|cellular response to retinoic acid|cloacal septation|embryonic skeletal system development|endoderm development|lung-associated mesenchyme development|mesonephric duct development|negative regulation of apoptosis|negative regulation of canonical Wnt receptor signaling pathway|negative regulation of cartilage development|negative regulation of cell growth|negative regulation of cell migration|negative regulation of transcription, DNA-dependent|neuroendocrine cell differentiation|neuron differentiation|osteoblast differentiation|outflow tract morphogenesis|palate development|positive regulation of cell migration|positive regulation of protein kinase C signaling cascade|positive regulation of stress fiber assembly|positive regulation of transcription, DNA-dependent|positive regulation of transforming growth factor-beta2 production|protein localization at cell surface|protein phosphorylation|tight junction assembly|ureteric bud morphogenesis|ventricular septum morphogenesis|Wnt receptor signaling pathway, calcium modulating pathway cytoplasm|extracellular space|plasma membrane|proteinaceous extracellular matrix G-protein-coupled receptor binding|protein kinase activator activity|Ras GTPase activator activity|transcription regulatory region DNA binding breast(1)|large_intestine(5)|lung(6)|ovary(2)|prostate(3)|skin(2)|upper_aerodigestive_tract(1) 20 GCCGATGGTGTCTTGGACAGC 0.627000 5 7 0 0 1 0 0 CTNNBL1 56259 broad.mit.edu 37 20 36470803 36470803 + Missense_Mutation SNP G G C TCGA-S5-AA26-01A-11D-A38G-08 TCGA-S5-AA26-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0edef79b-466e-4362-af00-3961ea0d904c ae0ccd07-e2c8-42b5-b900-2ecfda4104d2 g.chr20:36470803G>C ENST00000405275.2 + 14 1536 c.1293G>C c.(1291-1293)aaG>aaC p.K431N CTNNBL1_ENST00000373473.1_Missense_Mutation_p.K271N|CTNNBL1_ENST00000373469.1_Missense_Mutation_p.K206N|CTNNBL1_ENST00000361383.6_Missense_Mutation_p.K458N|CTNNBL1_ENST00000473857.1_3'UTR NM_001281495.1 NP_001268424.1 Q8WYA6 CTBL1_HUMAN catenin, beta like 1 458 apoptosis|positive regulation of apoptosis|somatic diversification of immunoglobulins nucleus enzyme binding autonomic_ganglia(1)|breast(2)|endometrium(9)|large_intestine(6)|lung(6)|ovary(3)|urinary_tract(1) 28 Myeloproliferative disorder(115;0.00878) CGGACAAGAAGATTGAAGGGG 0.478000 19 22 0 0 1 0 0 SFXN2 118980 broad.mit.edu 37 10 104497439 104497439 + Missense_Mutation SNP C C G TCGA-S5-AA26-01A-11D-A38G-08 TCGA-S5-AA26-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0edef79b-466e-4362-af00-3961ea0d904c ae0ccd07-e2c8-42b5-b900-2ecfda4104d2 g.chr10:104497439C>G ENST00000369893.5 + 12 1056 c.889C>G c.(889-891)Ctg>Gtg p.L297V NM_178858.4 NP_849189.1 Q96NB2 SFXN2_HUMAN sideroflexin 2 iron ion homeostasis integral to membrane cation transmembrane transporter activity endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|liver(2)|lung(3)|prostate(1) 13 Colorectal(252;0.207) Epithelial(162;4.53e-09)|all cancers(201;1.2e-07)|BRCA - Breast invasive adenocarcinoma(275;0.218) AGTTTCCTATCTGGAACCGAA 0.443000 52 40 0 0 1 0 0 NEBL 10529 broad.mit.edu 37 10 21120438 21120438 + Silent SNP G G A TCGA-S5-AA26-01A-11D-A38G-08 TCGA-S5-AA26-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0edef79b-466e-4362-af00-3961ea0d904c ae0ccd07-e2c8-42b5-b900-2ecfda4104d2 g.chr10:21120438G>A ENST00000377122.4 - 15 1920 c.1524C>T c.(1522-1524)gtC>gtT p.V508V NEBL_ENST00000377159.4_Intron|NEBL_ENST00000417816.2_Intron NM_006393.2 NP_006384.1 O76041 NEBL_HUMAN nebulette 508 regulation of actin filament length actin binding|structural constituent of muscle NS(2)|breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(14)|lung(22)|ovary(2)|pancreas(1)|prostate(2)|skin(8)|stomach(5)|upper_aerodigestive_tract(1)|urinary_tract(2) 70 TAGCTCTCTGGACATCAAGAG 0.413000 16 31 0 0 1 0 0 MOCS3 27304 broad.mit.edu 37 20 49575736 49575736 + Missense_Mutation SNP G G A TCGA-S5-AA26-01A-11D-A38G-08 TCGA-S5-AA26-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0edef79b-466e-4362-af00-3961ea0d904c ae0ccd07-e2c8-42b5-b900-2ecfda4104d2 g.chr20:49575736G>A ENST00000244051.1 + 1 374 c.357G>A c.(355-357)atG>atA p.M119I NM_014484.3 NP_055299.1 O95396 MOCS3_HUMAN molybdenum cofactor synthesis 3 119 enzyme active site formation via L-cysteine persulfide|Mo-molybdopterin cofactor biosynthetic process|tRNA thio-modification|tRNA wobble uridine modification|water-soluble vitamin metabolic process cytosol ATP binding|metal ion binding|nucleotidyltransferase activity|protein binding|thiosulfate sulfurtransferase activity|URM1 activating enzyme activity NS(1)|endometrium(1)|kidney(1)|large_intestine(2)|liver(2)|lung(8)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(4) 24 TGGTAGAGATGAGCAACCTGG 0.672000 9 74 0 0 1 0 0 ENAM 10117 broad.mit.edu 37 4 71509912 71509912 + Missense_Mutation SNP C C G TCGA-S5-AA26-01A-11D-A38G-08 TCGA-S5-AA26-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0edef79b-466e-4362-af00-3961ea0d904c ae0ccd07-e2c8-42b5-b900-2ecfda4104d2 g.chr4:71509912C>G ENST00000396073.3 + 9 3050 c.2769C>G c.(2767-2769)atC>atG p.I923M ENAM_ENST00000472903.1_Intron NM_031889.2 NP_114095.2 Q9NRM1 ENAM_HUMAN enamelin 923 bone mineralization|odontogenesis proteinaceous extracellular matrix structural constituent of tooth enamel haematopoietic_and_lymphoid_tissue(1)|ovary(3)|upper_aerodigestive_tract(2) 6 Lung(101;0.235) GAGATATCATCTCCCCAACAA 0.488000 33 37 0 0 1 0 0 ATP6V1B2 526 broad.mit.edu 37 8 20070301 20070301 + Missense_Mutation SNP G G A TCGA-S5-AA26-01A-11D-A38G-08 TCGA-S5-AA26-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0edef79b-466e-4362-af00-3961ea0d904c ae0ccd07-e2c8-42b5-b900-2ecfda4104d2 g.chr8:20070301G>A ENST00000276390.2 + 9 852 c.812G>A c.(811-813)cGa>cAa p.R271Q NM_001693.3 NP_001684.2 P21281 VATB2_HUMAN ATPase, H+ transporting, lysosomal 56/58kDa, V1 subunit B2 271 ATP hydrolysis coupled proton transport|cellular iron ion homeostasis|insulin receptor signaling pathway|transferrin transport cytosol|endomembrane system|Golgi apparatus|melanosome|plasma membrane|proton-transporting V-type ATPase, V1 domain ATP binding|hydrogen ion transporting ATP synthase activity, rotational mechanism|proton-transporting ATPase activity, rotational mechanism endometrium(1)|kidney(2)|lung(5)|prostate(1) 9 Colorectal(74;0.0535)|COAD - Colon adenocarcinoma(73;0.211) AGCATTGAGCGAATTATCACT 0.383000 4 169 0 0 1 0 0 GAS2L2 246176 broad.mit.edu 37 17 34072004 34072004 + Missense_Mutation SNP C C G TCGA-S5-AA26-01A-11D-A38G-08 TCGA-S5-AA26-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0edef79b-466e-4362-af00-3961ea0d904c ae0ccd07-e2c8-42b5-b900-2ecfda4104d2 g.chr17:34072004C>G ENST00000254466.6 - 6 2539 c.2512G>C c.(2512-2514)Gag>Cag p.E838Q GAS2L2_ENST00000587565.1_Missense_Mutation_p.E822Q NM_139285.3 NP_644814.1 Q8NHY3 GA2L2_HUMAN growth arrest-specific 2 like 2 838 cell cycle arrest cytoplasm|cytoskeleton p.E838*(1) central_nervous_system(1)|endometrium(1)|large_intestine(7)|lung(14)|ovary(2)|pancreas(1)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 35 Ovarian(249;0.17) UCEC - Uterine corpus endometrioid carcinoma (308;0.0182) tcctcctcctcctcACCTACT 0.627000 31 19 0 0 1 0 0 CSMD1 64478 broad.mit.edu 37 8 3165880 3165880 + Missense_Mutation SNP C C G TCGA-S5-AA26-01A-11D-A38G-08 TCGA-S5-AA26-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0edef79b-466e-4362-af00-3961ea0d904c ae0ccd07-e2c8-42b5-b900-2ecfda4104d2 g.chr8:3165880C>G ENST00000602557.1 - 25 4335 c.3780G>C c.(3778-3780)ttG>ttC p.L1260F CSMD1_ENST00000537824.1_Missense_Mutation_p.L1259F|CSMD1_ENST00000602723.1_Missense_Mutation_p.L1260F|CSMD1_ENST00000400186.3_Missense_Mutation_p.L1260F|CSMD1_ENST00000520002.1_Missense_Mutation_p.L1260F|CSMD1_ENST00000539096.1_Missense_Mutation_p.L1259F|CSMD1_ENST00000542608.1_Missense_Mutation_p.L1259F Q96PZ7 CSMD1_HUMAN CUB and Sushi multiple domains 1 1260 Sushi 7. integral to membrane breast(20)|large_intestine(5) 25 all_cancers(1;5.7e-41)|all_epithelial(1;2.54e-36)|Lung NSC(1;7.54e-11)|all_lung(1;3.2e-10)|Hepatocellular(1;3.78e-05)|Breast(1;0.000196)|Myeloproliferative disorder(4;0.000374)|Esophageal squamous(1;0.0157)|Ovarian(12;0.091)|Renal(68;0.144)|Colorectal(14;0.234) all cancers(1;5.03e-41)|Epithelial(1;4.78e-31)|Lung(1;1.14e-14)|LUSC - Lung squamous cell carcinoma(1;2.34e-14)|GBM - Glioblastoma multiforme(1;4.49e-10)|Colorectal(4;1.18e-07)|OV - Ovarian serous cystadenocarcinoma(1;3.2e-07)|BRCA - Breast invasive adenocarcinoma(1;6.17e-07)|COAD - Colon adenocarcinoma(4;0.000539)|READ - Rectum adenocarcinoma(4;0.00896)|Kidney(5;0.00957)|KIRC - Kidney renal clear cell carcinoma(5;0.0689) TGTCTCCACTCAAACAGGTCA 0.527000 19 28 0 0 1 0 0 ATP13A3 79572 broad.mit.edu 37 3 194150428 194150428 + Silent SNP G G A TCGA-S5-AA26-01A-11D-A38G-08 TCGA-S5-AA26-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0edef79b-466e-4362-af00-3961ea0d904c ae0ccd07-e2c8-42b5-b900-2ecfda4104d2 g.chr3:194150428G>A ENST00000439040.1 - 27 3644 c.2853C>T c.(2851-2853)ttC>ttT p.F951F ATP13A3_ENST00000256031.4_Silent_p.F951F Q9H7F0 AT133_HUMAN ATPase type 13A3 951 ATP biosynthetic process|cation transport integral to membrane ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|metal ion binding NS(2)|endometrium(3)|kidney(3)|large_intestine(2)|lung(10)|ovary(1)|prostate(1)|skin(1)|urinary_tract(1) 24 all_cancers(143;6.01e-09)|Ovarian(172;0.0634) Melanoma(1037;0.211) OV - Ovarian serous cystadenocarcinoma(49;3.83e-18)|LUSC - Lung squamous cell carcinoma(58;3.55e-06)|Lung(62;4.19e-06) GBM - Glioblastoma multiforme(46;5.98e-05) GAGTAACACTGAAGTACTGGA 0.378000 30 43 0 0 1 0 0 ANKRD36BP2 645784 broad.mit.edu 37 2 89084114 89084114 + RNA SNP G G A TCGA-S5-AA26-01A-11D-A38G-08 TCGA-S5-AA26-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0edef79b-466e-4362-af00-3961ea0d904c ae0ccd07-e2c8-42b5-b900-2ecfda4104d2 g.chr2:89084114G>A ENST00000393525.3 + 0 576 TTGCTTTTCAGTGTCTTCTCA 0.313000 3 44 0 0 1 0 0 KCND3 3752 broad.mit.edu 37 1 112524512 112524512 + Silent SNP G G A TCGA-S5-AA26-01A-11D-A38G-08 TCGA-S5-AA26-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0edef79b-466e-4362-af00-3961ea0d904c ae0ccd07-e2c8-42b5-b900-2ecfda4104d2 g.chr1:112524512G>A ENST00000369697.1 - 1 906 c.837C>T c.(835-837)aaC>aaT p.N279N KCND3_ENST00000315987.2_Silent_p.N279N|KCND3_ENST00000302127.4_Silent_p.N279N Q9UK17 KCND3_HUMAN potassium voltage-gated channel, Shal-related subfamily, member 3 279 sarcolemma|voltage-gated potassium channel complex A-type (transient outward) potassium channel activity|metal ion binding NS(1)|breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(16)|lung(9)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(4)|urinary_tract(2) 49 all_cancers(81;8.52e-06)|all_epithelial(167;5.65e-06)|all_lung(203;2.72e-05)|Lung NSC(69;4.56e-05) all cancers(265;0.056)|Lung(183;0.0576)|Colorectal(144;0.1)|Epithelial(280;0.104)|COAD - Colon adenocarcinoma(174;0.222)|LUSC - Lung squamous cell carcinoma(189;0.231) ACACGTCCTCGTTGTTGGTCA 0.617000 37 45 0 0 1 0 0 PDK2 5164 broad.mit.edu 37 17 48183423 48183423 + Missense_Mutation SNP C C G TCGA-S5-AA26-01A-11D-A38G-08 TCGA-S5-AA26-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0edef79b-466e-4362-af00-3961ea0d904c ae0ccd07-e2c8-42b5-b900-2ecfda4104d2 g.chr17:48183423C>G ENST00000503176.1 + 4 668 c.507C>G c.(505-507)atC>atG p.I169M PDK2_ENST00000007708.3_Missense_Mutation_p.I105M NM_002611.4 NP_002602.2 Q15119 PDK2_HUMAN pyruvate dehydrogenase kinase, isozyme 2 169 Histidine kinase. glucose metabolic process|peptidyl-histidine phosphorylation|pyruvate metabolic process|regulation of acetyl-CoA biosynthetic process from pyruvate mitochondrial matrix|nucleus ATP binding|pyruvate dehydrogenase (acetyl-transferring) kinase activity|two-component sensor activity central_nervous_system(4)|endometrium(2)|kidney(1)|large_intestine(2)|lung(7)|prostate(2)|skin(1)|urinary_tract(1) 20 GCATGCTCATCAACCAGCACA 0.667000 Autosomal Dominant Polycystic Kidney Disease 4 5 0 0 1 0 0 CRTC2 200186 broad.mit.edu 37 1 153930853 153930853 + Missense_Mutation SNP C C G TCGA-S5-AA26-01A-11D-A38G-08 TCGA-S5-AA26-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0edef79b-466e-4362-af00-3961ea0d904c ae0ccd07-e2c8-42b5-b900-2ecfda4104d2 g.chr1:153930853C>G ENST00000368633.1 - 1 248 c.121G>C c.(121-123)Gag>Cag p.E41Q CRTC2_ENST00000368630.3_Intron NM_181715.2 NP_859066.1 Q53ET0 CRTC2_HUMAN CREB regulated transcription coactivator 2 41 interspecies interaction between organisms|regulation of transcription, DNA-dependent|transcription, DNA-dependent cytoplasm|nucleus protein binding NS(1)|breast(1)|cervix(2)|endometrium(4)|large_intestine(5)|lung(8)|ovary(3)|skin(1)|upper_aerodigestive_tract(2) 27 all_lung(78;3.05e-32)|Lung NSC(65;3.74e-30)|Hepatocellular(266;0.0877)|Melanoma(130;0.199) LUSC - Lung squamous cell carcinoma(543;0.151) ATCACCTCCTCGAAGGCCGCC 0.677000 15 6 0 0 1 0 0 F13A1 2162 broad.mit.edu 37 6 6318796 6318796 + Silent SNP G G T TCGA-S5-AA26-01A-11D-A38G-08 TCGA-S5-AA26-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0edef79b-466e-4362-af00-3961ea0d904c ae0ccd07-e2c8-42b5-b900-2ecfda4104d2 g.chr6:6318796G>T ENST00000264870.3 - 2 367 c.102C>A c.(100-102)ggC>ggA p.G34G NM_000129.3 NP_000120.2 P00488 F13A_HUMAN coagulation factor XIII, A1 polypeptide 34 peptide cross-linking|platelet activation|platelet degranulation extracellular region|platelet alpha granule lumen acyltransferase activity|metal ion binding|protein-glutamine gamma-glutamyltransferase activity NS(1)|autonomic_ganglia(1)|breast(2)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(37)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1) 62 Ovarian(93;0.0816) all_hematologic(90;0.152) L-Glutamine(DB00130) GGGGCACCACGCCCTGAAGCT 0.617000 51 54 1.51926e-22 1.63688e-22 1 1 0 PPP1R9A 55607 broad.mit.edu 37 7 94913496 94913496 + Missense_Mutation SNP G G C TCGA-S5-AA26-01A-11D-A38G-08 TCGA-S5-AA26-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0edef79b-466e-4362-af00-3961ea0d904c ae0ccd07-e2c8-42b5-b900-2ecfda4104d2 g.chr7:94913496G>C ENST00000289495.5 + 15 3559 c.3343G>C c.(3343-3345)Gag>Cag p.E1115Q PPP1R9A_ENST00000340694.4_Intron|PPP1R9A_ENST00000424654.1_Missense_Mutation_p.E1133Q|PPP1R9A_ENST00000433881.1_Intron|PPP1R9A_ENST00000456331.2_Missense_Mutation_p.E1133Q|PPP1R9A_ENST00000433360.1_Missense_Mutation_p.E1155Q NM_001166161.1 NP_001159633.1 Q9ULJ8 NEB1_HUMAN protein phosphatase 1, regulatory subunit 9A 909 cell junction|synapse|synaptosome actin binding breast(3)|central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(4)|kidney(3)|large_intestine(11)|liver(2)|lung(22)|ovary(2)|prostate(1)|skin(4)|upper_aerodigestive_tract(8)|urinary_tract(5) 71 all_cancers(62;9.12e-11)|all_epithelial(64;4.34e-09) STAD - Stomach adenocarcinoma(171;0.0031) GCCTTCTCCTGAGACTCTAAT 0.448000 HNSCC(28;0.073) 19 31 0 0 1 0 0 CROCCP2 84809 broad.mit.edu 37 1 16956460 16956460 + RNA SNP A A C TCGA-S5-AA26-01A-11D-A38G-08 TCGA-S5-AA26-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0edef79b-466e-4362-af00-3961ea0d904c ae0ccd07-e2c8-42b5-b900-2ecfda4104d2 g.chr1:16956460A>C ENST00000412962.1 - 0 294 tgcctgggcaattttttaaat 0.572000 3 25 0 0 1 0 0 SRGAP3 9901 broad.mit.edu 37 3 9106158 9106158 + Silent SNP G G T TCGA-S5-AA26-01A-11D-A38G-08 TCGA-S5-AA26-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0edef79b-466e-4362-af00-3961ea0d904c ae0ccd07-e2c8-42b5-b900-2ecfda4104d2 g.chr3:9106158G>T ENST00000383836.3 - 5 1021 c.594C>A c.(592-594)ctC>ctA p.L198L SRGAP3_ENST00000360413.3_Silent_p.L198L|SRGAP3_ENST00000433332.3_5'UTR NM_014850.3 NP_055665.1 O43295 SRGP2_HUMAN SLIT-ROBO Rho GTPase activating protein 3 198 regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction cytosol GTPase activator activity|protein binding SRGAP3/RAF1(6) breast(1)|endometrium(2)|kidney(21)|large_intestine(7)|lung(13)|prostate(3)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1) 54 OV - Ovarian serous cystadenocarcinoma(96;0.0563) GGTTCATGCTGAGGTCTCCTG 0.567000 T RAF1 pilocytic astrocytoma 38 50 1.30998e-17 1.39342e-17 1 1 0 HEATR1 55127 broad.mit.edu 37 1 236746460 236746460 + Missense_Mutation SNP C C G TCGA-S5-AA26-01A-11D-A38G-08 TCGA-S5-AA26-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0edef79b-466e-4362-af00-3961ea0d904c ae0ccd07-e2c8-42b5-b900-2ecfda4104d2 g.chr1:236746460C>G ENST00000366582.3 - 18 2392 c.2278G>C c.(2278-2280)Gac>Cac p.D760H HEATR1_ENST00000366581.2_Missense_Mutation_p.D760H NM_018072.5 NP_060542.4 Q9H583 HEAT1_HUMAN HEAT repeat containing 1 760 rRNA processing nucleolus|ribonucleoprotein complex protein binding NS(2)|breast(7)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(18)|lung(28)|ovary(3)|prostate(1)|skin(4)|stomach(3)|upper_aerodigestive_tract(3) 87 Ovarian(103;0.0634)|Breast(184;0.133) all_cancers(173;0.0255)|Prostate(94;0.175) OV - Ovarian serous cystadenocarcinoma(106;0.00117) ATCCCTCTGTCTAACATCAGT 0.433000 181 9 0 0 1 0 0 ASH1L 55870 broad.mit.edu 37 1 155429593 155429593 + Missense_Mutation SNP G G A TCGA-S5-AA26-01A-11D-A38G-08 TCGA-S5-AA26-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0edef79b-466e-4362-af00-3961ea0d904c ae0ccd07-e2c8-42b5-b900-2ecfda4104d2 g.chr1:155429593G>A ENST00000368346.3 - 4 5720 c.5081C>T c.(5080-5082)tCa>tTa p.S1694L ASH1L_ENST00000392403.3_Missense_Mutation_p.S1694L Q9NR48 ASH1L_HUMAN ash1 (absent, small, or homeotic)-like (Drosophila) 1694 Ser-rich. cell-cell signaling|DNA packaging|regulation of transcription, DNA-dependent|transcription from RNA polymerase II promoter chromosome|Golgi apparatus|nucleus|tight junction DNA binding|histone-lysine N-methyltransferase activity|zinc ion binding autonomic_ganglia(1)|breast(4)|central_nervous_system(1)|endometrium(12)|kidney(13)|large_intestine(28)|lung(39)|ovary(2)|pancreas(1)|prostate(6)|skin(11)|upper_aerodigestive_tract(2)|urinary_tract(4) 124 Hepatocellular(266;0.0997)|all_neural(408;0.129)|all_hematologic(923;0.145) Epithelial(20;1.74e-08)|all cancers(21;3.29e-08)|BRCA - Breast invasive adenocarcinoma(34;0.021) CTAGCCTGTTGAAGAAGTACT 0.423000 6 13 0 0 1 0 0 PIEZO2 63895 broad.mit.edu 37 18 10697783 10697783 + Missense_Mutation SNP C C T TCGA-S5-AA26-01A-11D-A38G-08 TCGA-S5-AA26-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0edef79b-466e-4362-af00-3961ea0d904c ae0ccd07-e2c8-42b5-b900-2ecfda4104d2 g.chr18:10697783C>T ENST00000302079.6 - 41 6450 c.6451G>A c.(6451-6453)Gaa>Aaa p.E2151K PIEZO2_ENST00000285141.4_Missense_Mutation_p.E6K|PIEZO2_ENST00000538948.1_Missense_Mutation_p.E108K|PIEZO2_ENST00000503781.3_Missense_Mutation_p.E2151K|PIEZO2_ENST00000580640.1_Missense_Mutation_p.E2176K Q9H5I5 PIEZ2_HUMAN piezo-type mechanosensitive ion channel component 2 2151 integral to membrane ion channel activity ATTAAATGTTCTTGAAGCTTT 0.378000 50 50 0 0 1 0 0 DHRS3 9249 broad.mit.edu 37 1 12639404 12639404 + Missense_Mutation SNP C C G TCGA-S5-AA26-01A-11D-A38G-08 TCGA-S5-AA26-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0edef79b-466e-4362-af00-3961ea0d904c ae0ccd07-e2c8-42b5-b900-2ecfda4104d2 g.chr1:12639404C>G ENST00000376223.2 - 3 759 c.376G>C c.(376-378)Gtg>Ctg p.V126L NM_004753.4 NP_004744.2 O75911 DHRS3_HUMAN dehydrogenase/reductase (SDR family) member 3 126 retinol metabolic process|visual perception integral to membrane electron carrier activity|NADP-retinol dehydrogenase activity|nucleotide binding cervix(1)|large_intestine(4)|lung(2)|prostate(1)|skin(1) 9 Ovarian(185;0.249) Lung NSC(185;4.11e-05)|all_lung(284;4.58e-05)|Renal(390;0.000147)|Colorectal(325;0.000585)|Breast(348;0.000596)|Ovarian(437;0.00965)|Hepatocellular(190;0.0202)|Myeloproliferative disorder(586;0.0255) UCEC - Uterine corpus endometrioid carcinoma (279;0.023)|Colorectal(212;9.25e-07)|COAD - Colon adenocarcinoma(227;0.000326)|BRCA - Breast invasive adenocarcinoma(304;0.000344)|Kidney(185;0.00235)|KIRC - Kidney renal clear cell carcinoma(229;0.00656)|STAD - Stomach adenocarcinoma(313;0.00798)|READ - Rectum adenocarcinoma(331;0.0419) Vitamin A(DB00162) CCATGGACCACGGCGGCATTG 0.592000 21 27 0 0 1 0 0 KLF6 1316 broad.mit.edu 37 10 3824250 3824250 + Missense_Mutation SNP C C G TCGA-S5-AA26-01A-11D-A38G-08 TCGA-S5-AA26-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0edef79b-466e-4362-af00-3961ea0d904c ae0ccd07-e2c8-42b5-b900-2ecfda4104d2 g.chr10:3824250C>G ENST00000497571.1 - 2 519 c.259G>C c.(259-261)Gag>Cag p.E87Q KLF6_ENST00000542957.1_Missense_Mutation_p.E87Q|KLF6_ENST00000469435.1_Missense_Mutation_p.E87Q NM_001160124.1|NM_001300.5 NP_001153596.1|NP_001291.3 Q99612 KLF6_HUMAN Kruppel-like factor 6 87 B cell differentiation nucleus zinc ion binding breast(1)|central_nervous_system(3)|endometrium(1)|large_intestine(1)|lung(6)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1) 16 Colorectal(1;0.238) AGAGTGTCCTCTGGAGGACTG 0.473000 OREG0019980 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 96 104 0 0 1 0 0 ACAN 176 broad.mit.edu 37 15 89398622 89398622 + Missense_Mutation SNP G G A TCGA-S5-AA26-01A-11D-A38G-08 TCGA-S5-AA26-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0edef79b-466e-4362-af00-3961ea0d904c ae0ccd07-e2c8-42b5-b900-2ecfda4104d2 g.chr15:89398622G>A ENST00000439576.2 + 12 3180 c.2806G>A c.(2806-2808)Gaa>Aaa p.E936K ACAN_ENST00000352105.7_Missense_Mutation_p.E936K|ACAN_ENST00000559004.1_Missense_Mutation_p.E936K|ACAN_ENST00000561243.1_Missense_Mutation_p.E936K NM_013227.3 NP_037359.3 E7EX88 E7EX88_HUMAN aggrecan 936 cell adhesion hyaluronic acid binding|sugar binding NS(1)|central_nervous_system(4)|cervix(1)|endometrium(3)|kidney(4)|large_intestine(15)|liver(2)|lung(40)|ovary(2)|prostate(5)|skin(5)|stomach(8)|upper_aerodigestive_tract(1)|urinary_tract(2) 93 Lung NSC(78;0.0392)|all_lung(78;0.077) BRCA - Breast invasive adenocarcinoma(143;0.146) TACGGTTGGTGAACTGCCCTC 0.562000 48 42 0 0 1 0 0 PHF1 5252 broad.mit.edu 37 6 33383614 33383614 + Missense_Mutation SNP C C T TCGA-S5-AA26-01A-11D-A38G-08 TCGA-S5-AA26-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0edef79b-466e-4362-af00-3961ea0d904c ae0ccd07-e2c8-42b5-b900-2ecfda4104d2 g.chr6:33383614C>T ENST00000374512.3 + 14 1608 c.1337C>T c.(1336-1338)tCc>tTc p.S446F PHF1_ENST00000374516.3_Silent_p.F481F NM_002636.4 NP_002627.1 O43189 PHF1_HUMAN PHD finger protein 1 0 chromatin modification nucleus nucleic acid binding|sequence-specific DNA binding transcription factor activity|zinc ion binding endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(1)|lung(5)|ovary(2)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1) 19 Ovarian(999;0.0443) ACATTGGTTTCCCCACAGACA 0.507000 64 74 0 0 1 0 0 OR1L4 254973 broad.mit.edu 37 9 125487095 125487095 + Missense_Mutation SNP C C A TCGA-S5-AA26-01A-11D-A38G-08 TCGA-S5-AA26-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0edef79b-466e-4362-af00-3961ea0d904c ae0ccd07-e2c8-42b5-b900-2ecfda4104d2 g.chr9:125487095C>A ENST00000259466.1 + 1 827 c.827C>A c.(826-828)aCa>aAa p.T276K NM_001005235.1 NP_001005235.1 Q8NGR5 OR1L4_HUMAN olfactory receptor, family 1, subfamily L, member 4 276 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity breast(2)|large_intestine(3)|lung(13)|prostate(1)|skin(1) 20 CGGGTAGCCACAGTTATGTAC 0.458000 38 3 2.32173e-10 2.42331e-10 1 1 0 IFNL3 282617 broad.mit.edu 37 19 39735575 39735575 + Silent SNP C C T TCGA-S5-AA26-01A-11D-A38G-08 TCGA-S5-AA26-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0edef79b-466e-4362-af00-3961ea0d904c ae0ccd07-e2c8-42b5-b900-2ecfda4104d2 g.chr19:39735575C>T ENST00000413851.2 - 1 71 c.33G>A c.(31-33)ctG>ctA p.L11L NM_172139.2 NP_742151.2 interferon, lambda 3 p.L11fs*3(1) CTGCGGCCATCAGCACCAGCA 0.642000 27 104 0 0 1 0 0 ACAN 176 broad.mit.edu 37 15 89402324 89402324 + Missense_Mutation SNP G G C TCGA-S5-AA26-01A-11D-A38G-08 TCGA-S5-AA26-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0edef79b-466e-4362-af00-3961ea0d904c ae0ccd07-e2c8-42b5-b900-2ecfda4104d2 g.chr15:89402324G>C ENST00000439576.2 + 12 6882 c.6508G>C c.(6508-6510)Gaa>Caa p.E2170Q ACAN_ENST00000352105.7_Missense_Mutation_p.E2170Q|ACAN_ENST00000559004.1_Missense_Mutation_p.E2170Q|ACAN_ENST00000561243.1_Missense_Mutation_p.E2170Q NM_013227.3 NP_037359.3 E7EX88 E7EX88_HUMAN aggrecan 2170 cell adhesion hyaluronic acid binding|sugar binding p.E2056K(1) NS(1)|central_nervous_system(4)|cervix(1)|endometrium(3)|kidney(4)|large_intestine(15)|liver(2)|lung(40)|ovary(2)|prostate(5)|skin(5)|stomach(8)|upper_aerodigestive_tract(1)|urinary_tract(2) 93 Lung NSC(78;0.0392)|all_lung(78;0.077) BRCA - Breast invasive adenocarcinoma(143;0.146) AGTGAGTGGAGAATCCACCAC 0.582000 38 47 0 0 1 0 0 UBASH3A 53347 broad.mit.edu 37 21 43833209 43833209 + Missense_Mutation SNP C C T rs150564154 byFrequency TCGA-S5-AA26-01A-11D-A38G-08 TCGA-S5-AA26-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0edef79b-466e-4362-af00-3961ea0d904c ae0ccd07-e2c8-42b5-b900-2ecfda4104d2 g.chr21:43833209C>T ENST00000319294.6 + 4 462 c.431C>T c.(430-432)aCg>aTg p.T144M UBASH3A_ENST00000291535.6_Missense_Mutation_p.T144M|UBASH3A_ENST00000398367.1_Missense_Mutation_p.T144M NM_018961.3 NP_061834.1 P57075 UBS3A_HUMAN ubiquitin associated and SH3 domain containing A 144 cytosol|nucleus breast(1)|central_nervous_system(1)|cervix(1)|endometrium(1)|large_intestine(9)|lung(12)|ovary(3) 28 TCCTTCCCCACGGCCGTGCCT 0.617000 57 48 0 0 1 0 0 TBCD 6904 broad.mit.edu 37 17 80724146 80724146 + Missense_Mutation SNP C C G TCGA-S5-AA26-01A-11D-A38G-08 TCGA-S5-AA26-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0edef79b-466e-4362-af00-3961ea0d904c ae0ccd07-e2c8-42b5-b900-2ecfda4104d2 g.chr17:80724146C>G ENST00000355528.4 + 4 467 c.337C>G c.(337-339)Cga>Gga p.R113G TBCD_ENST00000397466.2_5'UTR|TBCD_ENST00000539345.2_Missense_Mutation_p.R113G NM_005993.4 NP_005984.3 Q9BTW9 TBCD_HUMAN tubulin folding cofactor D 113 'de novo' posttranslational protein folding|adherens junction assembly|negative regulation of cell-substrate adhesion|negative regulation of microtubule polymerization|post-chaperonin tubulin folding pathway|tight junction assembly adherens junction|cytoplasm|lateral plasma membrane|microtubule|tight junction beta-tubulin binding|chaperone binding|GTPase activator activity Breast(20;0.000523)|all_neural(118;0.0779) all_cancers(8;0.0266)|all_epithelial(8;0.0696) OV - Ovarian serous cystadenocarcinoma(97;0.0868)|BRCA - Breast invasive adenocarcinoma(99;0.18) TTGATAGGTTCGAGGCTATAA 0.368000 9 8 0 0 1 0 0 RSPH6A 81492 broad.mit.edu 37 19 46313980 46313980 + Missense_Mutation SNP C C G TCGA-S5-AA26-01A-11D-A38G-08 TCGA-S5-AA26-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0edef79b-466e-4362-af00-3961ea0d904c ae0ccd07-e2c8-42b5-b900-2ecfda4104d2 g.chr19:46313980C>G ENST00000221538.3 - 2 911 c.769G>C c.(769-771)Gac>Cac p.D257H RSPH6A_ENST00000600188.1_5'UTR|RSPH6A_ENST00000597055.1_Missense_Mutation_p.D257H NM_030785.3 NP_110412.1 Q9H0K4 RSH6A_HUMAN radial spoke head 6 homolog A (Chlamydomonas) 257 intracellular central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(6)|liver(1)|lung(14)|ovary(2)|prostate(1)|skin(1)|urinary_tract(2) 32 CGCAGCGTGTCCAGCTTGGGG 0.622000 60 29 0 0 1 0 0 PXDN 7837 broad.mit.edu 37 2 1652185 1652185 + Missense_Mutation SNP C C T TCGA-S5-AA26-01A-11D-A38G-08 TCGA-S5-AA26-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0edef79b-466e-4362-af00-3961ea0d904c ae0ccd07-e2c8-42b5-b900-2ecfda4104d2 g.chr2:1652185C>T ENST00000252804.4 - 17 3417 c.3367G>A c.(3367-3369)Ggg>Agg p.G1123R NM_012293.1 NP_036425.1 Q92626 PXDN_HUMAN peroxidasin homolog (Drosophila) 1123 extracellular matrix organization|hydrogen peroxide catabolic process|immune response endoplasmic reticulum|extracellular space|proteinaceous extracellular matrix extracellular matrix structural constituent|heme binding|interleukin-1 receptor antagonist activity|peroxidase activity breast(1)|cervix(3)|endometrium(10)|haematopoietic_and_lymphoid_tissue(3)|kidney(6)|large_intestine(24)|lung(48)|ovary(3)|pancreas(8)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(3) 112 Acute lymphoblastic leukemia(172;0.0627)|all_hematologic(175;0.0797) all_cancers(51;0.0845)|Lung NSC(108;0.00641)|all_epithelial(98;0.00716) all cancers(51;0.0492)|OV - Ovarian serous cystadenocarcinoma(76;0.0973)|Epithelial(75;0.17)|GBM - Glioblastoma multiforme(21;0.228) CCCGCCACCCCGAACAGCCCC 0.617000 32 0 0 0 1 0 0 NEK3 4752 broad.mit.edu 37 13 52707874 52707874 + Missense_Mutation SNP C C T TCGA-S5-AA26-01A-11D-A38G-08 TCGA-S5-AA26-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0edef79b-466e-4362-af00-3961ea0d904c ae0ccd07-e2c8-42b5-b900-2ecfda4104d2 g.chr13:52707874C>T ENST00000400357.2 - 13 2629 c.1336G>A c.(1336-1338)Gtc>Atc p.V446I NEK3_ENST00000452082.2_Missense_Mutation_p.V467I|NEK3_ENST00000378101.2_Missense_Mutation_p.V463I|NEK3_ENST00000339406.3_Missense_Mutation_p.V463I P51956 NEK3_HUMAN NIMA-related kinase 3 463 cell division|mitosis nucleus ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(6)|lung(3)|ovary(1)|prostate(1)|stomach(2) 18 Breast(56;0.000207)|Lung NSC(96;0.00145)|Prostate(109;0.034)|Hepatocellular(98;0.065)|all_neural(104;0.173) GBM - Glioblastoma multiforme(99;2.81e-08) TCCAAAATGACAGAATCGTGA 0.488000 5 0 0 0 1 0 0 GSE1 23199 broad.mit.edu 37 16 85687988 85687988 + Silent SNP C C T TCGA-S5-AA26-01A-11D-A38G-08 TCGA-S5-AA26-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0edef79b-466e-4362-af00-3961ea0d904c ae0ccd07-e2c8-42b5-b900-2ecfda4104d2 g.chr16:85687988C>T ENST00000253458.7 + 4 707 c.531C>T c.(529-531)ctC>ctT p.L177L GSE1_ENST00000405402.2_Silent_p.L73L|GSE1_ENST00000393243.1_Silent_p.L104L NM_014615.2 NP_055430.1 Gse1 coiled-coil protein CGCACCTGCTCAGCACCCCCT 0.667000 31 19 0 0 1 0 0 RNF112 7732 broad.mit.edu 37 17 19314761 19314761 + Missense_Mutation SNP C C G TCGA-S5-AA26-01A-11D-A38G-08 TCGA-S5-AA26-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0edef79b-466e-4362-af00-3961ea0d904c ae0ccd07-e2c8-42b5-b900-2ecfda4104d2 g.chr17:19314761C>G ENST00000461366.1 + 1 255 c.40C>G c.(40-42)Cgg>Ggg p.R14G NM_007148.4 NP_009079.2 Q7Z5V9 Q7Z5V9_HUMAN ring finger protein 112 14 GTP binding|GTPase activity|zinc ion binding endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(2)|ovary(2)|prostate(1)|urinary_tract(1) 12 CTTTTGTCATCGGCTTGGCAA 0.642000 4 8 0 0 1 0 0 GREB1 9687 broad.mit.edu 37 2 11728910 11728910 + Missense_Mutation SNP G G T TCGA-S5-AA26-01A-11D-A38G-08 TCGA-S5-AA26-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0edef79b-466e-4362-af00-3961ea0d904c ae0ccd07-e2c8-42b5-b900-2ecfda4104d2 g.chr2:11728910G>T ENST00000381486.2 + 10 1498 c.1198G>T c.(1198-1200)Gac>Tac p.D400Y GREB1_ENST00000234142.5_Missense_Mutation_p.D400Y|GREB1_ENST00000381483.2_Missense_Mutation_p.D400Y NM_014668.3 NP_055483.2 Q4ZG55 GREB1_HUMAN growth regulation by estrogen in breast cancer 1 400 integral to membrane breast(3)|central_nervous_system(2)|endometrium(2)|kidney(4)|large_intestine(9)|lung(9)|ovary(1) 30 all_hematologic(175;0.127)|Acute lymphoblastic leukemia(172;0.155) Epithelial(75;0.115)|OV - Ovarian serous cystadenocarcinoma(76;0.186) GAACCTGAATGACGTCGTGGT 0.577000 59 2 1.00798e-23 1.09307e-23 1 1 0 CHERP 10523 broad.mit.edu 37 19 16633941 16633941 + Missense_Mutation SNP G G C TCGA-S5-AA26-01A-11D-A38G-08 TCGA-S5-AA26-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0edef79b-466e-4362-af00-3961ea0d904c ae0ccd07-e2c8-42b5-b900-2ecfda4104d2 g.chr19:16633941G>C ENST00000546361.2 - 11 2053 c.1902C>G c.(1900-1902)atC>atG p.I634M CHERP_ENST00000544299.1_5'UTR|CHERP_ENST00000198939.6_Missense_Mutation_p.I645M|CTD-3222D19.2_ENST00000409035.1_Intron NM_006387.5 NP_006378.3 Q8IWX8 CHERP_HUMAN calcium homeostasis endoplasmic reticulum protein 634 Pro-rich. cellular calcium ion homeostasis|negative regulation of cell proliferation|nervous system development|RNA processing endoplasmic reticulum|perinuclear region of cytoplasm RNA binding endometrium(3)|kidney(2)|large_intestine(4)|lung(9)|ovary(2)|stomach(1)|urinary_tract(3) 24 CATCGTGGTTGATGTGGGGTG 0.672000 41 52 0 0 1 0 0 KCNJ9 3765 broad.mit.edu 37 1 160054166 160054166 + Missense_Mutation SNP G G A TCGA-S5-AA26-01A-11D-A38G-08 TCGA-S5-AA26-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0edef79b-466e-4362-af00-3961ea0d904c ae0ccd07-e2c8-42b5-b900-2ecfda4104d2 g.chr1:160054166G>A ENST00000368088.3 + 2 588 c.346G>A c.(346-348)Gag>Aag p.E116K NM_004983.2 NP_004974.2 Q92806 IRK9_HUMAN potassium inwardly-rectifying channel, subfamily J, member 9 116 synaptic transmission integral to membrane|plasma membrane G-protein activated inward rectifier potassium channel activity|protein binding biliary_tract(1)|endometrium(3)|large_intestine(3)|liver(1)|lung(5)|ovary(1)|skin(2) 16 all_cancers(52;5.86e-16)|all_hematologic(112;0.093) BRCA - Breast invasive adenocarcinoma(70;0.111) CTTCTCCATCGAGACCGAGAC 0.677000 39 28 0 0 1 0 0 FLG 2312 broad.mit.edu 37 1 152283274 152283275 + In_Frame_Ins INS - - GGA TCGA-S5-AA26-01A-11D-A38G-08 TCGA-S5-AA26-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0edef79b-466e-4362-af00-3961ea0d904c ae0ccd07-e2c8-42b5-b900-2ecfda4104d2 g.chr1:152283274_152283275insGGA ENST00000368799.1 - 3 4122_4123 c.4087_4088insTCC c.(4087-4089)cag>cTCCag p.1362_1363insL FLG-AS1_ENST00000593011.1_RNA|FLG-AS1_ENST00000420707.1_RNA NM_002016.1 NP_002007.1 P20930 FILA_HUMAN filaggrin 1362 Ser-rich. keratinocyte differentiation cytoplasmic membrane-bounded vesicle|intermediate filament calcium ion binding|structural molecule activity autonomic_ganglia(1)|breast(13)|central_nervous_system(5)|cervix(2)|endometrium(38)|haematopoietic_and_lymphoid_tissue(1)|kidney(16)|large_intestine(57)|lung(211)|ovary(13)|pancreas(1)|prostate(15)|skin(24)|stomach(5)|upper_aerodigestive_tract(10)|urinary_tract(12) 424 Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127) LUSC - Lung squamous cell carcinoma(543;0.206) GTCTGCTGACTGCTGGTGGCGG 0.545 Ichthyosis 8 928 --- --- --- --- ERC2 26059 broad.mit.edu 37 3 55733470 55733472 + In_Frame_Del DEL TGG TGG - TCGA-S5-AA26-01A-11D-A38G-08 TCGA-S5-AA26-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0edef79b-466e-4362-af00-3961ea0d904c ae0ccd07-e2c8-42b5-b900-2ecfda4104d2 g.chr3:55733470_55733472delTGG ENST00000288221.6 - 16 3036_3038 c.2781_2783delCCA c.(2779-2784)caccat>cat p.927_928HH>H NM_015576.1 NP_056391.1 O15083 ERC2_HUMAN ELKS/RAB6-interacting/CAST family member 2 927 Poly-His. cell junction|cytoplasm|cytoskeleton|growth cone|presynaptic membrane|synaptosome protein binding breast(2)|endometrium(5)|large_intestine(6)|liver(1)|lung(14)|ovary(2)|urinary_tract(1) 31 KIRC - Kidney renal clear cell carcinoma(284;0.0667)|Kidney(284;0.0873)|OV - Ovarian serous cystadenocarcinoma(275;0.219) gtggtggtgatggtggtggtggt 0.502 7 214 --- --- --- --- FAT1 2195 broad.mit.edu 37 4 187554879 187554880 + Frame_Shift_Ins INS - - GA TCGA-S5-AA26-01A-11D-A38G-08 TCGA-S5-AA26-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0edef79b-466e-4362-af00-3961ea0d904c ae0ccd07-e2c8-42b5-b900-2ecfda4104d2 g.chr4:187554879_187554880insGA ENST00000441802.2 - 7 4490_4491 c.4281_4282insTC c.(4279-4284)ctcacafs p.T1428fs NM_005245.3 NP_005236.2 Q14517 FAT1_HUMAN FAT atypical cadherin 1 1428 Cadherin 12. actin filament organization|anatomical structure morphogenesis|cell migration|cell-cell signaling|establishment or maintenance of cell polarity|homophilic cell adhesion cell-cell junction|integral to plasma membrane|nucleus|perinuclear region of cytoplasm calcium ion binding|protein binding NS(1)|breast(3)|central_nervous_system(3)|endometrium(38)|haematopoietic_and_lymphoid_tissue(2)|kidney(12)|large_intestine(33)|lung(88)|ovary(13)|pancreas(2)|prostate(16)|skin(2)|upper_aerodigestive_tract(11)|urinary_tract(4) 228 GCCTCGACTGTGAGGTTGTAGT 0.455 HNSCC(5;0.00058) 85 125 --- --- --- --- CCT6P3 643180 broad.mit.edu 37 7 64528813 64528814 + RNA INS - - T TCGA-S5-AA26-01A-11D-A38G-08 TCGA-S5-AA26-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0edef79b-466e-4362-af00-3961ea0d904c ae0ccd07-e2c8-42b5-b900-2ecfda4104d2 g.chr7:64528813_64528814insT ENST00000426828.1 + 0 621 NR_033416.1 CTTTCTGTAACTTTTTTTTTTT 0.317 4 7 --- --- --- --- SRPR 6734 broad.mit.edu 37 11 126137087 126137087 + Frame_Shift_Del DEL T T - TCGA-S5-AA26-01A-11D-A38G-08 TCGA-S5-AA26-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0edef79b-466e-4362-af00-3961ea0d904c ae0ccd07-e2c8-42b5-b900-2ecfda4104d2 g.chr11:126137087delT ENST00000332118.6 - 4 663 c.509delA c.(508-510)aagfs p.K170fs SRPR_ENST00000532259.1_Frame_Shift_Del_p.K142fs NM_003139.3 NP_003130.2 P08240 SRPR_HUMAN signal recognition particle receptor (docking protein) 170 SRP-dependent cotranslational protein targeting to membrane integral to membrane|signal recognition particle receptor complex GTP binding|GTPase activity|receptor activity|signal recognition particle binding p.K170fs*33(2) endometrium(7)|large_intestine(2)|lung(9)|ovary(2)|prostate(1) 21 all_hematologic(175;0.145) BRCA - Breast invasive adenocarcinoma(274;1.1e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0736) CTTGGCCCCCTTTTTTTTGCT 0.438 7 351 --- --- --- --- VKORC1 79001 broad.mit.edu 37 16 31106727 31106728 + Frame_Shift_Ins INS - - GTAA TCGA-S5-AA26-01A-11D-A38G-08 TCGA-S5-AA26-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0edef79b-466e-4362-af00-3961ea0d904c ae0ccd07-e2c8-42b5-b900-2ecfda4104d2 g.chr16:31106727_31106728insGTAA ENST00000498155.1 - 1 573_574 c.252_253insTTAC c.(250-255)tacaacfs p.N85fs Q9BQB6 VKOR1_HUMAN vitamin K epoxide reductase complex, subunit 1 0 peptidyl-glutamic acid carboxylation|post-translational protein modification endoplasmic reticulum membrane|integral to membrane vitamin-K-epoxide reductase (warfarin-sensitive) activity lung(3)|urinary_tract(1) 4 Acenocoumarol(DB01418)|Dicumarol(DB00266)|Menadione(DB00170)|Phenindione(DB00498)|Phenprocoumon(DB00946)|Warfarin(DB00682) CAAGTCCTGTTGTAAGAATTGC 0.460 5 7 --- --- --- --- BPTF 2186 broad.mit.edu 37 17 65907303 65907304 + Frame_Shift_Del DEL TC TC - TCGA-S5-AA26-01A-11D-A38G-08 TCGA-S5-AA26-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0edef79b-466e-4362-af00-3961ea0d904c ae0ccd07-e2c8-42b5-b900-2ecfda4104d2 g.chr17:65907303_65907304delTC ENST00000321892.4 + 13 3742_3743 c.3681_3682delTC c.(3679-3684)aatctcfs p.L1228fs BPTF_ENST00000306378.6_Frame_Shift_Del_p.L1102fs|BPTF_ENST00000335221.5_Frame_Shift_Del_p.L1228fs|BPTF_ENST00000424123.3_Frame_Shift_Del_p.L1089fs Q12830 BPTF_HUMAN bromodomain PHD finger transcription factor 1228 brain development|chromatin remodeling|negative regulation of transcription from RNA polymerase II promoter|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent cytoplasm|NURF complex sequence-specific DNA binding|transcription factor binding|zinc ion binding NS(1)|breast(1)|central_nervous_system(3)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(16)|lung(23)|ovary(3)|pancreas(2)|prostate(4)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(2) 78 all_cancers(12;6e-11) BRCA - Breast invasive adenocarcinoma(8;7.48e-08)|Colorectal(3;0.0984)|LUSC - Lung squamous cell carcinoma(166;0.24) CTTCAAAAAATCTCTCTGAATC 0.381 9 36 --- --- --- --- BPIFC 254240 broad.mit.edu 37 22 32831828 32831829 + Frame_Shift_Ins INS - - G TCGA-S5-AA26-01A-11D-A38G-08 TCGA-S5-AA26-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0edef79b-466e-4362-af00-3961ea0d904c ae0ccd07-e2c8-42b5-b900-2ecfda4104d2 g.chr22:32831828_32831829insG ENST00000397452.1 - 9 896_897 c.786_787insC c.(784-789)cccttcfs p.F263fs BPIFC_ENST00000432451.2_Frame_Shift_Ins_p.F77fs|BPIFC_ENST00000534972.1_5'UTR|BPIFC_ENST00000300399.3_Frame_Shift_Ins_p.F263fs Q8NFQ6 BPIL2_HUMAN BPI fold containing family C 263 extracellular region lipopolysaccharide binding|phospholipid binding ACTGGTGAGAAGGGGGGGTCGG 0.460 28 38 --- --- --- ---