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 OSBPL6 114880 broad.mit.edu 37 2 179247226 179247226 + Missense_Mutation SNP C C T TCGA-CN-A63Y-01A-11D-A30E-08 TCGA-CN-A63Y-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1573766d-cd60-4498-bdad-dcb8d6bc88c8 8582b1ee-b97e-42ab-be9f-5d3899704723 g.chr2:179247226C>T ENST00000190611.4 + 16 1989 c.1613C>T c.(1612-1614)tCt>tTt p.S538F OSBPL6_ENST00000359685.3_Missense_Mutation_p.S502F|OSBPL6_ENST00000409045.3_Missense_Mutation_p.S507F|OSBPL6_ENST00000392505.2_Missense_Mutation_p.S563F|OSBPL6_ENST00000357080.4_Missense_Mutation_p.S471F|OSBPL6_ENST00000409631.1_Missense_Mutation_p.S502F|OSBPL6_ENST00000315022.2_Missense_Mutation_p.S542F NM_032523.3 NP_115912.1 Q9BZF3 OSBL6_HUMAN oxysterol binding protein-like 6 538 lipid transport lipid binding p.S538F(1) NS(1)|breast(1)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(13)|lung(18)|pancreas(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1) 46 OV - Ovarian serous cystadenocarcinoma(117;0.00578)|Epithelial(96;0.00847)|all cancers(119;0.0335) GACAATATTTCTCGGCAAAGT 0.428000 5 26 0 0 1 0 0 MAGEC1 9947 broad.mit.edu 37 X 140996236 140996236 + Missense_Mutation SNP G G A TCGA-CN-A63Y-01A-11D-A30E-08 TCGA-CN-A63Y-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1573766d-cd60-4498-bdad-dcb8d6bc88c8 8582b1ee-b97e-42ab-be9f-5d3899704723 g.chrX:140996236G>A ENST00000285879.4 + 4 3332 c.3046G>A c.(3046-3048)Gag>Aag p.E1016K MAGEC1_ENST00000406005.2_Missense_Mutation_p.E83K NM_005462.4 NP_005453.2 O60732 MAGC1_HUMAN melanoma antigen family C, 1 1016 MAGE. protein binding breast(3)|central_nervous_system(1)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(8)|large_intestine(22)|lung(60)|ovary(1)|pancreas(1)|prostate(1)|skin(7)|stomach(5)|upper_aerodigestive_tract(7)|urinary_tract(1) 127 Acute lymphoblastic leukemia(192;6.56e-05) CTATGCCTCTGAGGAGGTCAT 0.547000 HNSCC(15;0.026) 4 78 0 0 1 0 0 BYSL 705 broad.mit.edu 37 6 41897915 41897915 + Silent SNP G G A TCGA-CN-A63Y-01A-11D-A30E-08 TCGA-CN-A63Y-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1573766d-cd60-4498-bdad-dcb8d6bc88c8 8582b1ee-b97e-42ab-be9f-5d3899704723 g.chr6:41897915G>A ENST00000230340.4 + 3 852 c.477G>A c.(475-477)caG>caA p.Q159Q NM_004053.3 NP_004044.3 Q13895 BYST_HUMAN bystin-like 159 cell adhesion|female pregnancy|ribosome biogenesis cytoplasm|nucleolus endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|lung(5)|skin(1) 8 Colorectal(47;0.121) STAD - Stomach adenocarcinoma(11;0.000204)|Epithelial(12;0.000473)|Colorectal(64;0.00062)|COAD - Colon adenocarcinoma(64;0.00152) CTGAGAAGCAGACAGAGGTTG 0.602000 10 85 0 0 1 0 0 PARP14 54625 broad.mit.edu 37 3 122437494 122437494 + Missense_Mutation SNP G G A TCGA-CN-A63Y-01A-11D-A30E-08 TCGA-CN-A63Y-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1573766d-cd60-4498-bdad-dcb8d6bc88c8 8582b1ee-b97e-42ab-be9f-5d3899704723 g.chr3:122437494G>A ENST00000474629.2 + 14 4762 c.4496G>A c.(4495-4497)gGa>gAa p.G1499E PARP14_ENST00000475640.1_3'UTR NM_017554.2 NP_060024.2 Q460N5 PAR14_HUMAN poly (ADP-ribose) polymerase family, member 14 1499 G -> A (in Ref. 1; AAN08627). regulation of transcription, DNA-dependent|transcription, DNA-dependent cytoplasm|nucleus|plasma membrane NAD+ ADP-ribosyltransferase activity NS(2)|breast(5)|cervix(2)|endometrium(7)|kidney(5)|large_intestine(8)|lung(14)|ovary(2)|pancreas(1)|prostate(2)|skin(1)|urinary_tract(1) 50 GBM - Glioblastoma multiforme(114;0.0531) AAGGTTTTGGGAATTAGCAGA 0.413000 52 247 0 0 1 0 0 LDB3 11155 broad.mit.edu 37 10 88459051 88459051 + Missense_Mutation SNP G G A TCGA-CN-A63Y-01A-11D-A30E-08 TCGA-CN-A63Y-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1573766d-cd60-4498-bdad-dcb8d6bc88c8 8582b1ee-b97e-42ab-be9f-5d3899704723 g.chr10:88459051G>A ENST00000372056.4 + 8 1140 c.1117G>A c.(1117-1119)Gaa>Aaa p.E373K LDB3_ENST00000458213.2_Intron|LDB3_ENST00000372066.3_Missense_Mutation_p.E258K|LDB3_ENST00000542786.1_3'UTR|LDB3_ENST00000310944.6_Missense_Mutation_p.E305K|LDB3_ENST00000263066.6_Intron|LDB3_ENST00000429277.2_Intron|LDB3_ENST00000361373.4_Intron|LDB3_ENST00000352360.5_Intron NM_001171611.1 NP_001165082.1 O75112 LDB3_HUMAN LIM domain binding 3 0 cytoskeleton|perinuclear region of cytoplasm|pseudopodium zinc ion binding breast(1)|endometrium(3)|kidney(2)|large_intestine(5)|lung(9)|ovary(3)|prostate(1)|soft_tissue(1) 25 GTTTGAAACGGAACGTAACAG 0.483000 41 164 0 0 1 0 0 CLCN7 1186 broad.mit.edu 37 16 1501640 1501640 + Silent SNP G G A TCGA-CN-A63Y-01A-11D-A30E-08 TCGA-CN-A63Y-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1573766d-cd60-4498-bdad-dcb8d6bc88c8 8582b1ee-b97e-42ab-be9f-5d3899704723 g.chr16:1501640G>A ENST00000382745.4 - 16 2036 c.1431C>T c.(1429-1431)ctC>ctT p.L477L CLCN7_ENST00000448525.1_Silent_p.L453L|CLCN7_ENST00000262318.8_Silent_p.L453L NM_001287.5 NP_001278.1 P51798 CLCN7_HUMAN chloride channel, voltage-sensitive 7 477 integral to membrane|lysosomal membrane antiporter activity|ATP binding|voltage-gated chloride channel activity breast(2)|central_nervous_system(3)|endometrium(3)|kidney(3)|large_intestine(2)|lung(8)|ovary(1)|skin(2) 24 Hepatocellular(780;0.0893) GGTCGTGGAAGAGGCTCACCA 0.637000 4 28 0 0 1 0 0 SRRM2 23524 broad.mit.edu 37 16 2815912 2815912 + Nonsense_Mutation SNP C C T TCGA-CN-A63Y-01A-11D-A30E-08 TCGA-CN-A63Y-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1573766d-cd60-4498-bdad-dcb8d6bc88c8 8582b1ee-b97e-42ab-be9f-5d3899704723 g.chr16:2815912C>T ENST00000301740.8 + 11 5932 c.5383C>T c.(5383-5385)Cag>Tag p.Q1795* NM_016333.3 NP_057417.3 Q9UQ35 SRRM2_HUMAN serine/arginine repetitive matrix 2 1795 Arg-rich.|Ser-rich. Cajal body|catalytic step 2 spliceosome|nuclear speck C2H2 zinc finger domain binding|protein N-terminus binding|RNA binding breast(3)|central_nervous_system(1)|cervix(3)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(20)|lung(34)|ovary(6)|pancreas(3)|prostate(2)|skin(6)|upper_aerodigestive_tract(3)|urinary_tract(7) 105 TGGATCTTCTCAGTCAACCTC 0.602000 20 58 0 0 1 0 0 ENOX1 55068 broad.mit.edu 37 13 43930251 43930251 + Missense_Mutation SNP C C G TCGA-CN-A63Y-01A-11D-A30E-08 TCGA-CN-A63Y-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1573766d-cd60-4498-bdad-dcb8d6bc88c8 8582b1ee-b97e-42ab-be9f-5d3899704723 g.chr13:43930251C>G ENST00000261488.6 - 8 1204 c.627G>C c.(625-627)aaG>aaC p.K209N ENOX1_ENST00000540032.1_Missense_Mutation_p.K22N|ENOX1_ENST00000412891.1_Missense_Mutation_p.K209N NM_001242863.1|NM_017993.3 NP_001229792.1|NP_060463.2 Q8TC92 ENOX1_HUMAN ecto-NOX disulfide-thiol exchanger 1 209 RRM. electron transport chain|rhythmic process|transport extracellular space|plasma membrane nucleic acid binding|nucleotide binding|oxidoreductase activity breast(1)|endometrium(3)|large_intestine(7)|lung(18)|pancreas(2)|prostate(1)|skin(1)|urinary_tract(1) 34 Lung NSC(96;0.000518)|Prostate(109;0.0233)|Hepatocellular(98;0.0268)|Lung SC(185;0.0367)|Breast(139;0.0406) GBM - Glioblastoma multiforme(144;0.00333)|BRCA - Breast invasive adenocarcinoma(63;0.172) GGCCTGAATCCTTTTTGTCGG 0.532000 14 53 0 0 1 0 0 ANLN 54443 broad.mit.edu 37 7 36462273 36462273 + Silent SNP G G A TCGA-CN-A63Y-01A-11D-A30E-08 TCGA-CN-A63Y-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1573766d-cd60-4498-bdad-dcb8d6bc88c8 8582b1ee-b97e-42ab-be9f-5d3899704723 g.chr7:36462273G>A ENST00000265748.2 + 14 2552 c.2331G>A c.(2329-2331)ttG>ttA p.L777L ANLN_ENST00000396068.2_Silent_p.L740L NM_018685.2 NP_061155.2 Q9NQW6 ANLN_HUMAN anillin, actin binding protein 777 Localization to the cleavage furrow. cytokinesis|mitosis|regulation of exit from mitosis|septin ring assembly actomyosin contractile ring|nucleus actin binding breast(2)|endometrium(5)|kidney(5)|large_intestine(9)|lung(17)|ovary(2)|prostate(3)|skin(2) 45 TTGATGAATTGAATAAATTGA 0.348000 14 61 0 0 1 0 0 GBP1 2633 broad.mit.edu 37 1 89520433 89520433 + Missense_Mutation SNP C C G TCGA-CN-A63Y-01A-11D-A30E-08 TCGA-CN-A63Y-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1573766d-cd60-4498-bdad-dcb8d6bc88c8 8582b1ee-b97e-42ab-be9f-5d3899704723 g.chr1:89520433C>G ENST00000370473.4 - 10 1816 c.1597G>C c.(1597-1599)Gag>Cag p.E533Q GBP1_ENST00000484970.1_5'UTR NM_002053.2 NP_002044.2 P32455 GBP1_HUMAN guanylate binding protein 1, interferon-inducible 533 interferon-gamma-mediated signaling pathway plasma membrane GTP binding|GTPase activity endometrium(7)|kidney(4)|large_intestine(8)|lung(6)|ovary(1)|prostate(1)|skin(2)|urinary_tract(1) 30 Lung NSC(277;0.123) all cancers(265;0.0156)|Epithelial(280;0.0291) TCCATCTTCTCAGTCAGTTGT 0.438000 5 503 0 0 1 0 0 GABRB2 2561 broad.mit.edu 37 5 160973365 160973365 + Silent SNP C C T TCGA-CN-A63Y-01A-11D-A30E-08 TCGA-CN-A63Y-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1573766d-cd60-4498-bdad-dcb8d6bc88c8 8582b1ee-b97e-42ab-be9f-5d3899704723 g.chr5:160973365C>T ENST00000274547.2 - 3 349 c.132G>A c.(130-132)ctG>ctA p.L44L GABRB2_ENST00000353437.6_Silent_p.L44L|GABRB2_ENST00000520240.1_Silent_p.L44L|GABRB2_ENST00000517901.1_Intron|GABRB2_ENST00000393959.1_Silent_p.L44L|GABRB2_ENST00000517547.1_Intron NM_000813.2|NM_021911.2 NP_000804.1|NP_068711.1 P47870 GBRB2_HUMAN gamma-aminobutyric acid (GABA) A receptor, beta 2 44 gamma-aminobutyric acid signaling pathway|synaptic transmission cell junction|chloride channel complex|integral to plasma membrane|postsynaptic membrane chloride channel activity|GABA-A receptor activity breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(6)|liver(1)|lung(9)|soft_tissue(1)|upper_aerodigestive_tract(2)|urinary_tract(3) 26 Renal(175;0.00259) Medulloblastoma(196;0.021)|all_neural(177;0.0463) Kidney(164;7.83e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525) Ethchlorvynol(DB00189)|Flurazepam(DB00690)|Lorazepam(DB00186)|Midazolam(DB00683) CATAGCCTTTCAGGAGTCTAT 0.453000 11 49 0 0 1 0 0 SCN9A 6335 broad.mit.edu 37 2 167056284 167056284 + Missense_Mutation SNP C C T TCGA-CN-A63Y-01A-11D-A30E-08 TCGA-CN-A63Y-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1573766d-cd60-4498-bdad-dcb8d6bc88c8 8582b1ee-b97e-42ab-be9f-5d3899704723 g.chr2:167056284C>T ENST00000375387.4 - 27 5208 c.4868G>A c.(4867-4869)cGt>cAt p.R1623H AC010127.3_ENST00000447809.2_RNA|SCN9A_ENST00000409672.1_Missense_Mutation_p.R1611H|SCN9A_ENST00000409435.1_Missense_Mutation_p.R1622H|SCN9A_ENST00000303354.6_Missense_Mutation_p.R1623H Q15858 SCN9A_HUMAN sodium channel, voltage-gated, type IX, alpha subunit 1622 voltage-gated sodium channel complex voltage-gated sodium channel activity NS(1)|breast(5)|central_nervous_system(6)|endometrium(6)|kidney(3)|large_intestine(27)|lung(38)|ovary(6)|prostate(8)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(2) 108 Lamotrigine(DB00555)|Lidocaine(DB00281) TTTGACTAGACGTAGGATTCG 0.498000 38 139 0 0 1 0 0 ARID1B 57492 broad.mit.edu 37 6 157150436 157150436 + Nonsense_Mutation SNP C C T TCGA-CN-A63Y-01A-11D-A30E-08 TCGA-CN-A63Y-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1573766d-cd60-4498-bdad-dcb8d6bc88c8 8582b1ee-b97e-42ab-be9f-5d3899704723 g.chr6:157150436C>T ENST00000346085.5 + 2 1619 c.1618C>T c.(1618-1620)Cag>Tag p.Q540* ARID1B_ENST00000350026.5_Nonsense_Mutation_p.Q540*|ARID1B_ENST00000367148.1_Nonsense_Mutation_p.Q540*|ARID1B_ENST00000275248.4_Nonsense_Mutation_p.Q482* NM_020732.3 NP_065783.3 Q8NFD5 ARI1B_HUMAN AT rich interactive domain 1B (SWI1-like) 540 chromatin-mediated maintenance of transcription|nervous system development|transcription, DNA-dependent SWI/SNF complex DNA binding|protein binding|transcription coactivator activity NS(2)|breast(5)|central_nervous_system(4)|endometrium(12)|kidney(4)|large_intestine(11)|lung(30)|ovary(3)|pancreas(1)|prostate(4)|skin(2)|urinary_tract(3) 81 Breast(66;0.000162)|Ovarian(120;0.0265) OV - Ovarian serous cystadenocarcinoma(65;3.19e-17)|BRCA - Breast invasive adenocarcinoma(81;1.01e-05) TTCTCAGCCTCAGCAGAGCAG 0.567000 9 115 0 0 1 0 0 DNMBP 23268 broad.mit.edu 37 10 101639929 101639929 + Missense_Mutation SNP G G A rs148968752 TCGA-CN-A63Y-01A-11D-A30E-08 TCGA-CN-A63Y-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1573766d-cd60-4498-bdad-dcb8d6bc88c8 8582b1ee-b97e-42ab-be9f-5d3899704723 g.chr10:101639929G>A ENST00000342239.3 - 16 4350 c.4259C>T c.(4258-4260)tCg>tTg p.S1420L DNMBP_ENST00000543621.1_Missense_Mutation_p.S642L|DNMBP_ENST00000324109.4_Missense_Mutation_p.S1396L|DNMBP_ENST00000540316.1_Missense_Mutation_p.S332L Q6XZF7 DNMBP_HUMAN dynamin binding protein 1396 Ser-rich. intracellular signal transduction|regulation of Rho protein signal transduction cell junction|cytoskeleton|Golgi stack|synapse protein binding|Rho guanyl-nucleotide exchange factor activity central_nervous_system(1)|cervix(4)|endometrium(9)|large_intestine(14)|lung(19)|ovary(5)|prostate(1)|skin(6)|stomach(1)|upper_aerodigestive_tract(1) 61 Colorectal(252;0.234) Epithelial(162;2.94e-10)|all cancers(201;3.15e-08) GCAAGACCCCGAGGTAAAGGA 0.557000 46 188 0 0 1 0 0 TTF2 8458 broad.mit.edu 37 1 117618364 117618364 + Silent SNP C C T TCGA-CN-A63Y-01A-11D-A30E-08 TCGA-CN-A63Y-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1573766d-cd60-4498-bdad-dcb8d6bc88c8 8582b1ee-b97e-42ab-be9f-5d3899704723 g.chr1:117618364C>T ENST00000369466.3 + 5 1202 c.1158C>T c.(1156-1158)ttC>ttT p.F386F NM_003594.3 NP_003585.3 Q9UNY4 TTF2_HUMAN transcription termination factor, RNA polymerase II 386 mRNA processing|regulation of transcription, DNA-dependent|RNA splicing|termination of RNA polymerase II transcription cytoplasm|spliceosomal complex|transcription elongation factor complex ATP binding|ATP-dependent helicase activity|DNA binding|DNA-dependent ATPase activity|protein binding|zinc ion binding NS(1)|autonomic_ganglia(1)|breast(1)|cervix(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|liver(1)|lung(24)|ovary(1)|prostate(2)|skin(2)|urinary_tract(2) 50 Lung SC(450;0.225) all_cancers(81;4.23e-06)|all_epithelial(167;3.65e-07)|all_lung(203;2.81e-06)|Lung NSC(69;1.98e-05) Lung(183;0.0553)|Colorectal(144;0.179)|LUSC - Lung squamous cell carcinoma(189;0.19) ACCTCCAATTCCCTGATCGAA 0.502000 6 38 0 0 1 0 0 ZNF609 23060 broad.mit.edu 37 15 64968080 64968080 + Silent SNP G G A TCGA-CN-A63Y-01A-11D-A30E-08 TCGA-CN-A63Y-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1573766d-cd60-4498-bdad-dcb8d6bc88c8 8582b1ee-b97e-42ab-be9f-5d3899704723 g.chr15:64968080G>A ENST00000326648.3 + 4 3155 c.3027G>A c.(3025-3027)caG>caA p.Q1009Q NM_015042.1 NP_055857.1 O15014 ZN609_HUMAN zinc finger protein 609 1009 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 AAGAACAGCAGAAACGCCAGA 0.562000 39 148 0 0 1 0 0 AHSG 197 broad.mit.edu 37 3 186338451 186338451 + Missense_Mutation SNP C C T TCGA-CN-A63Y-01A-11D-A30E-08 TCGA-CN-A63Y-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1573766d-cd60-4498-bdad-dcb8d6bc88c8 8582b1ee-b97e-42ab-be9f-5d3899704723 g.chr3:186338451C>T ENST00000411641.2 + 7 1055 c.836C>T c.(835-837)cCg>cTg p.P279L AHSG_ENST00000273784.5_Missense_Mutation_p.P280L P02765 FETUA_HUMAN alpha-2-HS-glycoprotein 279 acute-phase response|negative regulation of bone mineralization|negative regulation of insulin receptor signaling pathway|pinocytosis|positive regulation of phagocytosis|regulation of inflammatory response|skeletal system development extracellular space cysteine-type endopeptidase inhibitor activity|protein binding central_nervous_system(1)|kidney(1)|large_intestine(2)|lung(15)|prostate(2)|stomach(1) 22 all_cancers(143;3.64e-12)|Ovarian(172;0.0339) OV - Ovarian serous cystadenocarcinoma(80;3.27e-20) GBM - Glioblastoma multiforme(93;0.0463) GATGCACCTCCGTCCCCTCCA 0.622000 5 252 0 0 1 0 0 SKA3 221150 broad.mit.edu 37 13 21742369 21742369 + Silent SNP G G A TCGA-CN-A63Y-01A-11D-A30E-08 TCGA-CN-A63Y-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1573766d-cd60-4498-bdad-dcb8d6bc88c8 8582b1ee-b97e-42ab-be9f-5d3899704723 g.chr13:21742369G>A ENST00000314759.5 - 4 625 c.501C>T c.(499-501)atC>atT p.I167I SKA3_ENST00000400018.3_Silent_p.I167I NM_145061.5 NP_659498.4 Q8IX90 SKA3_HUMAN spindle and kinetochore associated complex subunit 3 167 cell division|chromosome segregation|mitosis|regulation of microtubule polymerization or depolymerization condensed chromosome outer kinetochore|cytoplasm|spindle microtubule protein binding breast(1)|endometrium(3)|kidney(2)|large_intestine(2)|lung(6)|ovary(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1) 19 CTTGGGATACGATGTACCGCT 0.438000 37 123 0 0 1 0 0 C21orf91 54149 broad.mit.edu 37 21 19169339 19169339 + Missense_Mutation SNP C C T TCGA-CN-A63Y-01A-11D-A30E-08 TCGA-CN-A63Y-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1573766d-cd60-4498-bdad-dcb8d6bc88c8 8582b1ee-b97e-42ab-be9f-5d3899704723 g.chr21:19169339C>T ENST00000284881.4 - 3 314 c.224G>A c.(223-225)cGa>cAa p.R75Q C21orf91_ENST00000493464.1_5'UTR|C21orf91_ENST00000400559.3_Missense_Mutation_p.R75Q|AL109761.5_ENST00000428689.1_RNA|C21orf91_ENST00000400558.3_Missense_Mutation_p.R75Q NM_001100420.1|NM_017447.3 NP_001093890.1|NP_059143.3 Q9NYK6 EURL_HUMAN chromosome 21 open reading frame 91 75 endometrium(2)|large_intestine(2)|lung(4)|ovary(1) 9 Epithelial(23;8.76e-05)|all cancers(11;0.000422)|OV - Ovarian serous cystadenocarcinoma(11;0.0107)|Lung(58;0.0129)|COAD - Colon adenocarcinoma(22;0.0303)|LUSC - Lung squamous cell carcinoma(23;0.0381)|Colorectal(24;0.0929) AAGCTTAGATCGAGGACAACC 0.363000 11 56 0 0 1 0 0 GRIP1 23426 broad.mit.edu 37 12 66814548 66814548 + Missense_Mutation SNP C C T TCGA-CN-A63Y-01A-11D-A30E-08 TCGA-CN-A63Y-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1573766d-cd60-4498-bdad-dcb8d6bc88c8 8582b1ee-b97e-42ab-be9f-5d3899704723 g.chr12:66814548C>T ENST00000359742.4 - 15 2030 c.1790G>A c.(1789-1791)gGa>gAa p.G597E GRIP1_ENST00000286445.7_Missense_Mutation_p.G597E|GRIP1_ENST00000398016.3_Missense_Mutation_p.G545E Q9Y3R0 GRIP1_HUMAN glutamate receptor interacting protein 1 597 PDZ 5. androgen receptor signaling pathway|intracellular signal transduction|positive regulation of transcription, DNA-dependent|synaptic transmission cell junction|cytoplasmic membrane-bounded vesicle|cytosol|endoplasmic reticulum|postsynaptic membrane androgen receptor binding|beta-catenin binding|protein C-terminus binding|receptor signaling complex scaffold activity|transcription coactivator activity NS(3)|breast(2)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(10)|lung(19)|ovary(2)|prostate(2)|skin(1) 50 GBM - Glioblastoma multiforme(2;0.00069) GBM - Glioblastoma multiforme(28;0.0933) GAGGGGGTCTCCTGGTTTTCT 0.368000 17 101 0 0 1 0 0 ZNF562 54811 broad.mit.edu 37 19 9764512 9764512 + Missense_Mutation SNP C C T TCGA-CN-A63Y-01A-11D-A30E-08 TCGA-CN-A63Y-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1573766d-cd60-4498-bdad-dcb8d6bc88c8 8582b1ee-b97e-42ab-be9f-5d3899704723 g.chr19:9764512C>T ENST00000448622.1 - 6 556 c.394G>A c.(394-396)Gag>Aag p.E132K ZNF562_ENST00000537617.1_Missense_Mutation_p.E16K|ZNF562_ENST00000453792.2_Missense_Mutation_p.E63K|ZNF562_ENST00000541032.1_Missense_Mutation_p.E95K|ZNF562_ENST00000293648.4_Missense_Mutation_p.E60K|ZNF562_ENST00000590155.1_Missense_Mutation_p.E131K|ZNF562_ENST00000453372.2_Missense_Mutation_p.E132K|ZNF562_ENST00000587392.1_3'UTR NM_001130031.1|NM_001130032.1 NP_001123503.1|NP_001123504.1 Q6V9R5 ZN562_HUMAN zinc finger protein 562 132 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding NS(1)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(2)|lung(7)|prostate(1)|skin(1)|urinary_tract(1) 17 CTGAAGACCTCTCCACAATTC 0.403000 15 74 0 0 1 0 0 C7orf60 154743 broad.mit.edu 37 7 112555465 112555465 + Missense_Mutation SNP C C G TCGA-CN-A63Y-01A-11D-A30E-08 TCGA-CN-A63Y-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1573766d-cd60-4498-bdad-dcb8d6bc88c8 8582b1ee-b97e-42ab-be9f-5d3899704723 g.chr7:112555465C>G ENST00000297145.4 - 2 363 c.198G>C c.(196-198)gaG>gaC p.E66D C7orf60_ENST00000485446.1_5'UTR NM_152556.2 NP_689769.2 Q1RMZ1 CG060_HUMAN chromosome 7 open reading frame 60 66 breast(1)|endometrium(2)|lung(7)|ovary(3)|prostate(2)|skin(1)|urinary_tract(1) 17 TTTCTTCATCCTCACAGTGTT 0.363000 12 65 0 0 1 0 0 PRPF8 10594 broad.mit.edu 37 17 1561562 1561562 + Silent SNP C C T TCGA-CN-A63Y-01A-11D-A30E-08 TCGA-CN-A63Y-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1573766d-cd60-4498-bdad-dcb8d6bc88c8 8582b1ee-b97e-42ab-be9f-5d3899704723 g.chr17:1561562C>T ENST00000572621.1 - 33 5755 c.5490G>A c.(5488-5490)caG>caA p.Q1830Q PRPF8_ENST00000304992.6_Silent_p.Q1830Q Q6P2Q9 PRP8_HUMAN pre-mRNA processing factor 8 1830 Involved in interaction with pre-mRNA 5' splice site. catalytic step 2 spliceosome|nuclear speck|U5 snRNP protein binding|RNA binding NS(1)|autonomic_ganglia(1)|breast(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(3)|kidney(8)|large_intestine(13)|lung(24)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(5)|urinary_tract(3) 77 UCEC - Uterine corpus endometrioid carcinoma (25;0.0855) CCAAACGCTTCTGTCCCGCCC 0.493000 15 65 0 0 1 0 0 FANCD2 2177 broad.mit.edu 37 3 10084814 10084814 + Silent SNP G G A TCGA-CN-A63Y-01A-11D-A30E-08 TCGA-CN-A63Y-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1573766d-cd60-4498-bdad-dcb8d6bc88c8 8582b1ee-b97e-42ab-be9f-5d3899704723 g.chr3:10084814G>A ENST00000287647.3 + 12 1062 c.969G>A c.(967-969)ttG>ttA p.L323L FANCD2_ENST00000419585.1_Silent_p.L323L|FANCD2_ENST00000383807.1_Silent_p.L323L|FANCD2_ENST00000383806.1_Silent_p.L323L NM_033084.3 NP_149075.2 Q9BXW9 FACD2_HUMAN Fanconi anemia, complementation group D2 323 Interaction with BRCA2. DNA repair|response to gamma radiation nucleoplasm protein binding NS(1)|breast(3)|central_nervous_system(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(11)|lung(10)|ovary(1)|prostate(3)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(3) 51 OV - Ovarian serous cystadenocarcinoma(96;0.148) AAGTAAAGTTGAAAAGTAAAG 0.413000 """D, Mis, N, F""" """AML, leukemia""" Involved in tolerance or repair of DNA crosslinks Fanconi Anemia 17 52 0 0 1 0 0 IGKV3D-11 28876 broad.mit.edu 37 2 90212193 90212193 + RNA SNP C C A TCGA-CN-A63Y-01A-11D-A30E-08 TCGA-CN-A63Y-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1573766d-cd60-4498-bdad-dcb8d6bc88c8 8582b1ee-b97e-42ab-be9f-5d3899704723 g.chr2:90212193C>A ENST00000390277.2 + 0 382 CTCTCACCATCAGCAGCCTAG 0.527000 20 119 3.51602e-12 3.67784e-12 1 1 0 HNF4A 3172 broad.mit.edu 37 20 43043163 43043163 + Missense_Mutation SNP C C G TCGA-CN-A63Y-01A-11D-A30E-08 TCGA-CN-A63Y-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1573766d-cd60-4498-bdad-dcb8d6bc88c8 8582b1ee-b97e-42ab-be9f-5d3899704723 g.chr20:43043163C>G ENST00000316099.3 + 5 598 c.509C>G c.(508-510)tCc>tGc p.S170C HNF4A_ENST00000457232.1_Missense_Mutation_p.S148C|HNF4A_ENST00000415691.1_Missense_Mutation_p.S170C|HNF4A_ENST00000443598.2_Missense_Mutation_p.S170C NM_000457.4|NM_001258355.1 NP_000448.3|NP_001245284.1 P41235 HNF4A_HUMAN hepatocyte nuclear factor 4, alpha 170 blood coagulation|endocrine pancreas development|glucose homeostasis|negative regulation of cell growth|negative regulation of cell proliferation|ornithine metabolic process|phospholipid homeostasis|positive regulation of cholesterol homeostasis|regulation of growth hormone receptor signaling pathway|regulation of insulin secretion|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor|response to glucose stimulus|triglyceride homeostasis|xenobiotic metabolic process cytoplasm activating transcription factor binding|protein homodimerization activity|receptor binding|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription|steroid hormone receptor activity|transcription regulatory region DNA binding|zinc ion binding endometrium(4)|large_intestine(7)|lung(17)|ovary(1)|pancreas(1)|skin(2)|urinary_tract(2) 34 Myeloproliferative disorder(115;0.0122) COAD - Colon adenocarcinoma(18;0.00189) TCCCCCGTCTCCGGGATCAAC 0.597000 22 64 0 0 1 0 0 RIC8A 60626 broad.mit.edu 37 11 212415 212415 + Splice_Site SNP G G A TCGA-CN-A63Y-01A-11D-A30E-08 TCGA-CN-A63Y-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1573766d-cd60-4498-bdad-dcb8d6bc88c8 8582b1ee-b97e-42ab-be9f-5d3899704723 g.chr11:212415G>A ENST00000526104.1 + 6 2313 c.e6-1 RIC8A_ENST00000325207.5_Splice_Site|RIC8A_ENST00000527696.1_Splice_Site Q9NPQ8 RIC8A_HUMAN RIC8 guanine nucleotide exchange factor A cytoplasm|plasma membrane guanyl-nucleotide exchange factor activity endometrium(3)|kidney(1)|large_intestine(3)|lung(3)|pancreas(1)|prostate(1)|skin(1) 13 all_cancers(49;9.23e-07)|all_epithelial(84;0.000315)|Breast(177;0.00122)|Ovarian(85;0.0202)|Medulloblastoma(188;0.0321)|all_neural(188;0.0762) all cancers(45;4.45e-27)|Epithelial(43;2.94e-26)|OV - Ovarian serous cystadenocarcinoma(40;5.86e-21)|BRCA - Breast invasive adenocarcinoma(625;3.57e-05)|Lung(200;0.105)|LUSC - Lung squamous cell carcinoma(625;0.122) ATCCTCTACAGACACACAGGC 0.572000 4 20 0 0 1 0 0 TMEM168 64418 broad.mit.edu 37 7 112407287 112407287 + Missense_Mutation SNP C C T TCGA-CN-A63Y-01A-11D-A30E-08 TCGA-CN-A63Y-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1573766d-cd60-4498-bdad-dcb8d6bc88c8 8582b1ee-b97e-42ab-be9f-5d3899704723 g.chr7:112407287C>T ENST00000312814.5 - 5 2619 c.2059G>A c.(2059-2061)Gac>Aac p.D687N TMEM168_ENST00000454074.1_Missense_Mutation_p.D687N NM_022484.4 NP_071929.3 Q9H0V1 TM168_HUMAN transmembrane protein 168 687 integral to membrane|transport vesicle breast(1)|central_nervous_system(1)|endometrium(4)|large_intestine(10)|lung(12)|ovary(1)|prostate(2)|stomach(1) 32 TGTCCTGTGTCCAGCACAGTA 0.378000 14 47 0 0 1 0 0 HIVEP1 3096 broad.mit.edu 37 6 12122457 12122457 + Missense_Mutation SNP C C T TCGA-CN-A63Y-01A-11D-A30E-08 TCGA-CN-A63Y-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1573766d-cd60-4498-bdad-dcb8d6bc88c8 8582b1ee-b97e-42ab-be9f-5d3899704723 g.chr6:12122457C>T ENST00000379388.2 + 4 2761 c.2429C>T c.(2428-2430)cCg>cTg p.P810L NM_002114.2 NP_002105.2 P15822 ZEP1_HUMAN human immunodeficiency virus type I enhancer binding protein 1 810 transcription, DNA-dependent cytoplasm|nucleus DNA binding|protein binding|zinc ion binding NS(1)|breast(5)|central_nervous_system(1)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(3)|kidney(8)|large_intestine(11)|liver(1)|lung(31)|ovary(4)|prostate(1)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(3) 90 Breast(50;0.0639)|Ovarian(93;0.0816) all_hematologic(90;0.117) TCTGATATACCGAAGTCACCT 0.398000 4 138 0 0 1 0 0 POSTN 10631 broad.mit.edu 37 13 38160373 38160373 + Silent SNP G G A TCGA-CN-A63Y-01A-11D-A30E-08 TCGA-CN-A63Y-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1573766d-cd60-4498-bdad-dcb8d6bc88c8 8582b1ee-b97e-42ab-be9f-5d3899704723 g.chr13:38160373G>A ENST00000379747.4 - 7 915 c.798C>T c.(796-798)gaC>gaT p.D266D POSTN_ENST00000379749.4_Silent_p.D266D|POSTN_ENST00000541481.1_Silent_p.D266D|POSTN_ENST00000541179.1_Silent_p.D266D|POSTN_ENST00000379742.4_Silent_p.D266D|POSTN_ENST00000379743.4_Silent_p.D266D NM_006475.2 NP_006466.2 Q15063 POSTN_HUMAN periostin, osteoblast specific factor 266 FAS1 2. cell adhesion|skeletal system development proteinaceous extracellular matrix heparin binding cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|kidney(4)|large_intestine(16)|lung(22)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1) 59 Lung NSC(96;2.09e-05)|Prostate(109;0.0513)|Breast(139;0.0538)|Lung SC(185;0.0743) all cancers(112;2.48e-08)|Epithelial(112;2.78e-06)|OV - Ovarian serous cystadenocarcinoma(117;0.000853)|BRCA - Breast invasive adenocarcinoma(63;0.013)|GBM - Glioblastoma multiforme(144;0.0154) TGAAGTGACCGTCTCTTCCAA 0.458000 18 64 0 0 1 0 0 HIPK3 10114 broad.mit.edu 37 11 33308479 33308479 + Silent SNP G G A TCGA-CN-A63Y-01A-11D-A30E-08 TCGA-CN-A63Y-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1573766d-cd60-4498-bdad-dcb8d6bc88c8 8582b1ee-b97e-42ab-be9f-5d3899704723 g.chr11:33308479G>A ENST00000303296.4 + 2 824 c.519G>A c.(517-519)caG>caA p.Q173Q HIPK3_ENST00000379016.3_Silent_p.Q173Q|HIPK3_ENST00000525975.1_Silent_p.Q173Q|HIPK3_ENST00000456517.1_Silent_p.Q173Q NM_005734.3 NP_005725.3 Q9H422 HIPK3_HUMAN homeodomain interacting protein kinase 3 173 anti-apoptosis|apoptosis|negative regulation of JUN kinase activity|peptidyl-serine phosphorylation|peptidyl-threonine phosphorylation|regulation of transcription, DNA-dependent|transcription, DNA-dependent cytoplasm ATP binding|protein serine/threonine kinase activity endometrium(3)|kidney(3)|large_intestine(9)|liver(4)|lung(10)|ovary(2)|pancreas(1)|prostate(2)|skin(3)|stomach(1)|urinary_tract(1) 39 GATCAAAACAGAATTGTACCA 0.418000 19 51 0 0 1 0 0 LARGE 9215 broad.mit.edu 37 22 33700301 33700301 + Silent SNP G G A rs113253213 byFrequency TCGA-CN-A63Y-01A-11D-A30E-08 TCGA-CN-A63Y-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1573766d-cd60-4498-bdad-dcb8d6bc88c8 8582b1ee-b97e-42ab-be9f-5d3899704723 g.chr22:33700301G>A ENST00000354992.2 - 13 2215 c.1644C>T c.(1642-1644)aaC>aaT p.N548N LARGE_ENST00000437602.2_Silent_p.N548N|LARGE_ENST00000452586.2_Silent_p.N347N|LARGE_ENST00000397394.2_Silent_p.N548N|LARGE_ENST00000337431.2_Silent_p.N496N|LARGE_ENST00000402320.1_Silent_p.N496N NM_004737.4 NP_004728.1 O95461 LARGE_HUMAN like-glycosyltransferase 548 glycosphingolipid biosynthetic process|muscle cell homeostasis|N-acetylglucosamine metabolic process|protein glycosylation integral to Golgi membrane acetylglucosaminyltransferase activity breast(2)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(13)|lung(23)|ovary(1)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1) 51 Lung NSC(1;0.219) TCATGGCCACGTTGCGCAGCA 0.562000 27 104 0 0 1 0 0 DSN1 79980 broad.mit.edu 37 20 35381201 35381201 + Missense_Mutation SNP G G C TCGA-CN-A63Y-01A-11D-A30E-08 TCGA-CN-A63Y-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1573766d-cd60-4498-bdad-dcb8d6bc88c8 8582b1ee-b97e-42ab-be9f-5d3899704723 g.chr20:35381201G>C ENST00000426836.1 - 11 1433 c.1061C>G c.(1060-1062)tCt>tGt p.S354C DSN1_ENST00000473615.1_5'UTR|DSN1_ENST00000448110.1_Missense_Mutation_p.S338C|DSN1_ENST00000373734.4_Missense_Mutation_p.S247C|DSN1_ENST00000373740.3_Missense_Mutation_p.S282C|DSN1_ENST00000373745.3_Missense_Mutation_p.S354C|DSN1_ENST00000373750.4_Missense_Mutation_p.S354C NM_001145316.1 NP_001138788.1 Q9H410 DSN1_HUMAN DSN1, MIS12 kinetochore complex component 354 cell division|chromosome segregation|mitotic prometaphase cytosol|MIS12/MIND type complex|nucleus protein binding endometrium(1)|kidney(1)|large_intestine(1)|lung(7)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1) 16 Myeloproliferative disorder(115;0.00874) TCACTGACAAGATCCAGATCC 0.498000 21 83 0 0 1 0 0 CACNA1A 773 broad.mit.edu 37 19 13346065 13346065 + Silent SNP C C T TCGA-CN-A63Y-01A-11D-A30E-08 TCGA-CN-A63Y-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1573766d-cd60-4498-bdad-dcb8d6bc88c8 8582b1ee-b97e-42ab-be9f-5d3899704723 g.chr19:13346065C>T ENST00000360228.5 - 33 5090 c.5091G>A c.(5089-5091)ctG>ctA p.L1697L CACNA1A_ENST00000573710.2_Silent_p.L1698L|CACNA1A_ENST00000574822.1_5'UTR NM_000068.3|NM_001127222.1|NM_001174080.1|NM_023035.2 NP_000059.3|NP_001120694.1|NP_001167551.1|NP_075461.2 O00555 CAC1A_HUMAN calcium channel, voltage-dependent, P/Q type, alpha 1A subunit 1698 cell death|elevation of cytosolic calcium ion concentration|energy reserve metabolic process|membrane depolarization|regulation of insulin secretion cytoplasm|nucleus syntaxin binding breast(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(25)|prostate(2)|urinary_tract(1) 42 OV - Ovarian serous cystadenocarcinoma(19;5.07e-21) Bepridil(DB01244)|Cinnarizine(DB00568)|Loperamide(DB00836)|Nisoldipine(DB00401)|Pregabalin(DB00230) GCATGGCGATCAGCAGACAGA 0.562000 OREG0025293 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 5 17 0 0 1 0 0 SLC4A2 6522 broad.mit.edu 37 7 150773105 150773105 + Silent SNP G G A TCGA-CN-A63Y-01A-11D-A30E-08 TCGA-CN-A63Y-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1573766d-cd60-4498-bdad-dcb8d6bc88c8 8582b1ee-b97e-42ab-be9f-5d3899704723 g.chr7:150773105G>A ENST00000485713.1 + 22 4517 c.3477G>A c.(3475-3477)cgG>cgA p.R1159R SLC4A2_ENST00000461735.1_Silent_p.R1145R|SLC4A2_ENST00000310317.5_Silent_p.R1077R|SLC4A2_ENST00000413384.2_Silent_p.R1159R|SLC4A2_ENST00000392826.2_Silent_p.R1150R|RP11-148K1.12_ENST00000485974.1_RNA NM_001199692.1 NP_001186621.1 P04920 B3A2_HUMAN solute carrier family 4 (anion exchanger), member 2 1159 Membrane (anion exchange). bicarbonate transport integral to membrane|membrane fraction inorganic anion exchanger activity NS(1)|central_nervous_system(2)|endometrium(3)|kidney(1)|large_intestine(2)|liver(2)|lung(14)|prostate(3)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1) 33 OV - Ovarian serous cystadenocarcinoma(82;0.0121) UCEC - Uterine corpus endometrioid carcinoma (81;0.168) CCCAGGTCCGGACCCTCCGTA 0.652000 16 62 0 0 1 0 0 ABL2 27 broad.mit.edu 37 1 179086512 179086512 + Missense_Mutation SNP C C G TCGA-CN-A63Y-01A-11D-A30E-08 TCGA-CN-A63Y-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1573766d-cd60-4498-bdad-dcb8d6bc88c8 8582b1ee-b97e-42ab-be9f-5d3899704723 g.chr1:179086512C>G ENST00000502732.1 - 8 1566 c.1363G>C c.(1363-1365)Gag>Cag p.E455Q ABL2_ENST00000512653.1_Missense_Mutation_p.E440Q|ABL2_ENST00000392043.3_Missense_Mutation_p.E434Q|ABL2_ENST00000511413.1_Missense_Mutation_p.E455Q|ABL2_ENST00000367623.4_Missense_Mutation_p.E434Q|ABL2_ENST00000344730.3_Missense_Mutation_p.E440Q|ABL2_ENST00000504405.1_Missense_Mutation_p.E419Q|ABL2_ENST00000507173.1_Missense_Mutation_p.E434Q|ABL2_ENST00000408940.3_Missense_Mutation_p.E419Q NM_001168236.1|NM_001168237.1|NM_001168238.1|NM_007314.3 NP_001161708.1|NP_001161709.1|NP_001161710.1|NP_009298.1 P42684 ABL2_HUMAN c-abl oncogene 2, non-receptor tyrosine kinase 455 Protein kinase. axon guidance|cell adhesion|peptidyl-tyrosine phosphorylation|positive regulation of oxidoreductase activity|signal transduction cytoskeleton|cytosol ATP binding|magnesium ion binding|manganese ion binding|non-membrane spanning protein tyrosine kinase activity|protein binding breast(8)|central_nervous_system(1)|endometrium(7)|kidney(1)|large_intestine(9)|lung(32)|ovary(3)|prostate(2)|skin(1)|upper_aerodigestive_tract(1) 65 Adenosine triphosphate(DB00171)|Dasatinib(DB01254) GCAAGACTCTCTGGTGCTGTC 0.383000 T ETV6 AML 21 113 0 0 1 0 0 KIF21A 55605 broad.mit.edu 37 12 39756911 39756911 + Silent SNP G G A TCGA-CN-A63Y-01A-11D-A30E-08 TCGA-CN-A63Y-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1573766d-cd60-4498-bdad-dcb8d6bc88c8 8582b1ee-b97e-42ab-be9f-5d3899704723 g.chr12:39756911G>A ENST00000395670.3 - 7 1427 c.1008C>T c.(1006-1008)ctC>ctT p.L336L KIF21A_ENST00000361418.5_Silent_p.L336L|KIF21A_ENST00000544797.2_Silent_p.L336L|KIF21A_ENST00000541463.2_Silent_p.L336L|KIF21A_ENST00000361961.3_Silent_p.L336L Q7Z4S6 KI21A_HUMAN kinesin family member 21A 336 microtubule-based movement cytoplasm|microtubule ATP binding|microtubule motor activity p.L336L(1) NS(1)|breast(1)|central_nervous_system(1)|cervix(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(14)|lung(41)|ovary(5)|pancreas(1)|prostate(1)|skin(4)|stomach(1)|urinary_tract(2) 86 Lung NSC(34;0.179)|all_lung(34;0.213) TATTACCCCCGAGGGAATCCT 0.378000 19 73 0 0 1 0 0 PARP8 79668 broad.mit.edu 37 5 50111356 50111356 + Nonsense_Mutation SNP C C T TCGA-CN-A63Y-01A-11D-A30E-08 TCGA-CN-A63Y-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1573766d-cd60-4498-bdad-dcb8d6bc88c8 8582b1ee-b97e-42ab-be9f-5d3899704723 g.chr5:50111356C>T ENST00000281631.5 + 15 1824 c.1666C>T c.(1666-1668)Cag>Tag p.Q556* PARP8_ENST00000514067.2_Nonsense_Mutation_p.Q556*|PARP8_ENST00000514342.2_Nonsense_Mutation_p.Q309*|PARP8_ENST00000511363.2_3'UTR|PARP8_ENST00000505697.2_Nonsense_Mutation_p.Q556*|PARP8_ENST00000505554.1_Nonsense_Mutation_p.Q535*|PARP8_ENST00000503750.2_Nonsense_Mutation_p.Q556* NM_001178056.1|NM_024615.3 NP_001171527.1|NP_078891.2 Q8N3A8 PARP8_HUMAN poly (ADP-ribose) polymerase family, member 8 556 intracellular NAD+ ADP-ribosyltransferase activity breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(10)|lung(23)|ovary(1)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1) 49 Lung NSC(810;0.0305)|Breast(144;0.222) AACTGGAGCTCAGGTAGTAAC 0.378000 7 29 0 0 1 0 0 FRG1BP 284802 broad.mit.edu 37 20 29628243 29628243 + Missense_Mutation SNP T T C TCGA-CN-A63Y-01A-11D-A30E-08 TCGA-CN-A63Y-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1573766d-cd60-4498-bdad-dcb8d6bc88c8 8582b1ee-b97e-42ab-be9f-5d3899704723 g.chr20:29628243T>C ENST00000278882.3 + 6 625 c.245T>C c.(244-246)tTg>tCg p.L82S FRG1B_ENST00000439954.2_Missense_Mutation_p.L87S|FRG1B_ENST00000358464.4_Missense_Mutation_p.L82S p.L82S(2) endometrium(10)|kidney(21)|lung(3)|pancreas(1)|prostate(9)|urinary_tract(9) 53 ATGGCTTTGTTGGCCTCAAAT 0.363000 4 157 0 0 1 0 0 ZNF521 25925 broad.mit.edu 37 18 22804669 22804669 + Silent SNP G G C TCGA-CN-A63Y-01A-11D-A30E-08 TCGA-CN-A63Y-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1573766d-cd60-4498-bdad-dcb8d6bc88c8 8582b1ee-b97e-42ab-be9f-5d3899704723 g.chr18:22804669G>C ENST00000361524.3 - 4 3361 c.3213C>G c.(3211-3213)ctC>ctG p.L1071L ZNF521_ENST00000584787.1_Silent_p.L851L|ZNF521_ENST00000538137.2_Silent_p.L1071L NM_015461.2 NP_056276.1 Q96K83 ZN521_HUMAN zinc finger protein 521 1071 cell differentiation|multicellular organismal development|regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|protein domain specific binding|zinc ion binding p.L1071L(1) NS(1)|breast(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(21)|lung(97)|ovary(5)|pancreas(1)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(2) 149 all_cancers(21;0.0025)|all_epithelial(16;3.62e-05)|Ovarian(20;0.0991) GGAATTCTTTGAGGCAAGATG 0.522000 T PAX5 ALL 21 65 0 0 1 0 0 NF1 4763 broad.mit.edu 37 17 29556273 29556273 + Silent SNP G G A TCGA-CN-A63Y-01A-11D-A30E-08 TCGA-CN-A63Y-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1573766d-cd60-4498-bdad-dcb8d6bc88c8 8582b1ee-b97e-42ab-be9f-5d3899704723 g.chr17:29556273G>A ENST00000358273.4 + 21 3023 c.2640G>A c.(2638-2640)gtG>gtA p.V880V NF1_ENST00000356175.3_Silent_p.V880V NM_001042492.2 NP_001035957.1 P21359 NF1_HUMAN neurofibromin 1 880 actin cytoskeleton organization|adrenal gland development|artery morphogenesis|camera-type eye morphogenesis|cerebral cortex development|collagen fibril organization|forebrain astrocyte development|forebrain morphogenesis|heart development|liver development|MAPKKK cascade|metanephros development|myelination in peripheral nervous system|negative regulation of cell migration|negative regulation of endothelial cell proliferation|negative regulation of MAP kinase activity|negative regulation of MAPKKK cascade|negative regulation of neuroblast proliferation|negative regulation of oligodendrocyte differentiation|negative regulation of transcription factor import into nucleus|osteoblast differentiation|phosphatidylinositol 3-kinase cascade|pigmentation|positive regulation of adenylate cyclase activity|positive regulation of neuron apoptosis|Ras protein signal transduction|regulation of blood vessel endothelial cell migration|regulation of bone resorption|response to hypoxia|smooth muscle tissue development|spinal cord development|sympathetic nervous system development|visual learning|wound healing axon|cytoplasm|dendrite|intrinsic to internal side of plasma membrane|nucleus protein binding|Ras GTPase activator activity p.0?(8)|p.?(4) NF1/ACCN1(2) autonomic_ganglia(12)|breast(11)|central_nervous_system(72)|cervix(6)|endometrium(12)|haematopoietic_and_lymphoid_tissue(59)|kidney(9)|large_intestine(39)|liver(1)|lung(80)|ovary(20)|pancreas(2)|prostate(2)|skin(8)|soft_tissue(249)|stomach(2)|thyroid(1)|upper_aerodigestive_tract(5)|urinary_tract(9) 599 all_cancers(10;1.29e-12)|all_epithelial(10;0.00347)|all_hematologic(16;0.00556)|Acute lymphoblastic leukemia(14;0.00593)|Breast(31;0.014)|Myeloproliferative disorder(56;0.0255)|all_lung(9;0.0321)|Lung NSC(157;0.0659) UCEC - Uterine corpus endometrioid carcinoma (4;4.38e-05)|all cancers(4;1.64e-26)|Epithelial(4;9.15e-23)|OV - Ovarian serous cystadenocarcinoma(4;3.58e-21)|GBM - Glioblastoma multiforme(4;0.00146) TGATTTCAGTGATGTCTTCAG 0.483000 """D, Mis, N, F, S, O""" """neurofibroma, glioma""" """neurofibroma, glioma""" Neurofibromatosis, type 1 TCGA GBM(6;<1E-08)|TSP Lung(7;0.0071)|TCGA Ovarian(3;0.0088) 33 99 0 0 1 0 0 ATF4 468 broad.mit.edu 37 22 39918485 39918485 + Missense_Mutation SNP G G C TCGA-CN-A63Y-01A-11D-A30E-08 TCGA-CN-A63Y-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1573766d-cd60-4498-bdad-dcb8d6bc88c8 8582b1ee-b97e-42ab-be9f-5d3899704723 g.chr22:39918485G>C ENST00000337304.2 + 2 1816 c.934G>C c.(934-936)Gag>Cag p.E312Q ATF4_ENST00000404241.2_Missense_Mutation_p.E312Q|ATF4_ENST00000396680.1_Missense_Mutation_p.E312Q NM_001675.2 NP_001666.2 P18848 ATF4_HUMAN activating transcription factor 4 312 Interaction with GABBR1 (By similarity).|Leucine-zipper. cellular amino acid metabolic process|gluconeogenesis|positive regulation of transcription from RNA polymerase II promoter|response to endoplasmic reticulum stress|transcription from RNA polymerase II promoter cytoplasm|plasma membrane protein dimerization activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity breast(1)|endometrium(2)|large_intestine(2)|lung(5)|skin(1) 11 Melanoma(58;0.04) TGAGTGCAAAGAGCTGGAAAA 0.502000 9 24 0 0 1 0 0 FGFR1OP2 26127 broad.mit.edu 37 12 27116343 27116343 + Silent SNP C C T TCGA-CN-A63Y-01A-11D-A30E-08 TCGA-CN-A63Y-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1573766d-cd60-4498-bdad-dcb8d6bc88c8 8582b1ee-b97e-42ab-be9f-5d3899704723 g.chr12:27116343C>T ENST00000229395.3 + 6 921 c.579C>T c.(577-579)gaC>gaT p.D193D FGFR1OP2_ENST00000327214.5_Silent_p.D155D NM_015633.2 NP_056448.1 Q9NVK5 FGOP2_HUMAN FGFR1 oncogene partner 2 193 cytoplasm cervix(1)|large_intestine(4)|lung(1)|prostate(2) 8 Colorectal(261;0.0847) TTGAAATTGACGAGCAACAGG 0.388000 10 40 0 0 1 0 0 TUBGCP4 27229 broad.mit.edu 37 15 43668716 43668716 + Nonsense_Mutation SNP C C T TCGA-CN-A63Y-01A-11D-A30E-08 TCGA-CN-A63Y-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1573766d-cd60-4498-bdad-dcb8d6bc88c8 8582b1ee-b97e-42ab-be9f-5d3899704723 g.chr15:43668716C>T ENST00000564079.1 + 3 463 c.223C>T c.(223-225)Caa>Taa p.Q75* TUBGCP4_ENST00000570081.1_3'UTR|TUBGCP4_ENST00000260383.7_Nonsense_Mutation_p.Q75* NM_014444.2 NP_055259.2 Q9UGJ1 GCP4_HUMAN tubulin, gamma complex associated protein 4 75 G2/M transition of mitotic cell cycle|microtubule nucleation|protein complex assembly centrosome|cytosol|gamma-tubulin ring complex|microtubule|spindle pole structural constituent of cytoskeleton breast(1)|cervix(2)|endometrium(1)|kidney(1)|large_intestine(5)|lung(3)|ovary(4)|prostate(2)|upper_aerodigestive_tract(2) 21 all_cancers(109;1.27e-10)|all_epithelial(112;4.82e-09)|Lung NSC(122;1.72e-06)|all_lung(180;1.59e-05)|Melanoma(134;0.0728) GBM - Glioblastoma multiforme(94;3.53e-07) CCATCCATCTCAACAGGGCCA 0.473000 OREG0023088 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 17 68 0 0 1 0 0 NDST4 64579 broad.mit.edu 37 4 115751020 115751020 + Nonsense_Mutation SNP G G A TCGA-CN-A63Y-01A-11D-A30E-08 TCGA-CN-A63Y-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1573766d-cd60-4498-bdad-dcb8d6bc88c8 8582b1ee-b97e-42ab-be9f-5d3899704723 g.chr4:115751020G>A ENST00000264363.2 - 13 3103 c.2425C>T c.(2425-2427)Caa>Taa p.Q809* NM_022569.1 NP_072091.1 Q9H3R1 NDST4_HUMAN N-deacetylase/N-sulfotransferase (heparan glucosaminyl) 4 809 Heparan sulfate N-sulfotransferase 4. Golgi membrane|integral to membrane [heparan sulfate]-glucosamine N-sulfotransferase activity|hydrolase activity NS(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(4)|large_intestine(5)|lung(43)|ovary(1)|prostate(7)|skin(11)|upper_aerodigestive_tract(1)|urinary_tract(1) 81 Ovarian(17;0.156) OV - Ovarian serous cystadenocarcinoma(123;0.000562) TCCAGTAATTGACACCAAAAA 0.348000 14 28 0 0 1 0 0 HUWE1 10075 broad.mit.edu 37 X 53560286 53560286 + Missense_Mutation SNP C C T TCGA-CN-A63Y-01A-11D-A30E-08 TCGA-CN-A63Y-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1573766d-cd60-4498-bdad-dcb8d6bc88c8 8582b1ee-b97e-42ab-be9f-5d3899704723 g.chrX:53560286C>T ENST00000342160.3 - 83 13566 c.13109G>A c.(13108-13110)gGc>gAc p.G4370D HUWE1_ENST00000262854.6_Missense_Mutation_p.G4370D Q7Z6Z7 HUWE1_HUMAN HECT, UBA and WWE domain containing 1, E3 ubiquitin protein ligase 4370 HECT. base-excision repair|cell differentiation|histone ubiquitination|protein monoubiquitination|protein polyubiquitination|protein ubiquitination involved in ubiquitin-dependent protein catabolic process cytoplasm|nucleus DNA binding|protein binding|ubiquitin-protein ligase activity NS(1)|breast(15)|central_nervous_system(1)|cervix(1)|endometrium(17)|haematopoietic_and_lymphoid_tissue(4)|kidney(8)|large_intestine(29)|liver(2)|lung(52)|ovary(11)|prostate(2)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(2) 153 CAGCCCAAAGCCTTCAGAGCA 0.488000 3 6 0 0 1 0 0 NHP2L1 4809 broad.mit.edu 37 22 42070954 42070954 + Missense_Mutation SNP C C T TCGA-CN-A63Y-01A-11D-A30E-08 TCGA-CN-A63Y-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1573766d-cd60-4498-bdad-dcb8d6bc88c8 8582b1ee-b97e-42ab-be9f-5d3899704723 g.chr22:42070954C>T ENST00000401959.1 - 4 686 c.370G>A c.(370-372)Gaa>Aaa p.E124K NHP2L1_ENST00000355257.3_Missense_Mutation_p.E124K|NHP2L1_ENST00000463675.1_5'UTR|NHP2L1_ENST00000215956.5_Missense_Mutation_p.E124K|NHP2L1_ENST00000402458.1_Missense_Mutation_p.E128K NM_005008.3 NP_004999.1 P55769 NH2L1_HUMAN NHP2 non-histone chromosome protein 2-like 1 (S. cerevisiae) 124 nuclear mRNA splicing, via spliceosome|ribosome biogenesis box C/D snoRNP complex|nucleoplasm|spliceosomal complex protein binding|RNA binding endometrium(1)|kidney(1)|lung(1)|prostate(1) 4 AAGAGCCTTTCAATGGACTGC 0.512000 4 88 0 0 1 0 0 NIPBL 25836 broad.mit.edu 37 5 37051937 37051937 + Silent SNP G G A TCGA-CN-A63Y-01A-11D-A30E-08 TCGA-CN-A63Y-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1573766d-cd60-4498-bdad-dcb8d6bc88c8 8582b1ee-b97e-42ab-be9f-5d3899704723 g.chr5:37051937G>A ENST00000282516.8 + 41 7510 c.7011G>A c.(7009-7011)aaG>aaA p.K2337K NIPBL_ENST00000448238.2_Silent_p.K2337K NM_015384.4|NM_133433.3 NP_056199.2|NP_597677.2 Q6KC79 NIPBL_HUMAN Nipped-B homolog (Drosophila) 2337 brain development|cellular protein localization|cellular response to X-ray|cognition|developmental growth|ear morphogenesis|embryonic arm morphogenesis|embryonic digestive tract morphogenesis|external genitalia morphogenesis|eye morphogenesis|face morphogenesis|gall bladder development|maintenance of mitotic sister chromatid cohesion|metanephros development|negative regulation of transcription from RNA polymerase II promoter|outflow tract morphogenesis|positive regulation of histone deacetylation|regulation of developmental growth|regulation of embryonic development|regulation of hair cycle|response to DNA damage stimulus|sensory perception of sound|uterus morphogenesis SMC loading complex chromo shadow domain binding|histone deacetylase binding|protein C-terminus binding|protein N-terminus binding autonomic_ganglia(1)|breast(4)|endometrium(9)|kidney(22)|large_intestine(21)|liver(1)|lung(47)|ovary(7)|pancreas(1)|prostate(1)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(4) 128 all_lung(31;0.000447)|Hepatocellular(1;0.108) Epithelial(62;0.072)|COAD - Colon adenocarcinoma(61;0.14)|all cancers(62;0.191)|Colorectal(62;0.202) TGCGGAACAAGGCTGATCAGC 0.318000 11 44 0 0 1 0 0 TLR5 7100 broad.mit.edu 37 1 223285720 223285720 + Silent SNP T T C TCGA-CN-A63Y-01A-11D-A30E-08 TCGA-CN-A63Y-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1573766d-cd60-4498-bdad-dcb8d6bc88c8 8582b1ee-b97e-42ab-be9f-5d3899704723 g.chr1:223285720T>C ENST00000540964.1 - 4 1115 c.654A>G c.(652-654)aaA>aaG p.K218K TLR5_ENST00000342210.6_Silent_p.K218K O60602 TLR5_HUMAN toll-like receptor 5 218 cellular response to mechanical stimulus|inflammatory response|innate immune response|MyD88-dependent toll-like receptor signaling pathway|positive regulation of interleukin-8 production|positive regulation of toll-like receptor signaling pathway integral to membrane|plasma membrane interleukin-1 receptor binding|transmembrane receptor activity breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(4)|lung(8)|ovary(2)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(2) 32 GBM - Glioblastoma multiforme(131;0.0851) GGTTCATACATTTTCCCCAGT 0.458000 14 87 0 0 1 0 0 ZCCHC16 340595 broad.mit.edu 37 X 111698734 111698734 + Nonsense_Mutation SNP C C T rs139116920 byFrequency TCGA-CN-A63Y-01A-11D-A30E-08 TCGA-CN-A63Y-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1573766d-cd60-4498-bdad-dcb8d6bc88c8 8582b1ee-b97e-42ab-be9f-5d3899704723 g.chrX:111698734C>T ENST00000340433.2 + 1 1008 c.778C>T c.(778-780)Cga>Tga p.R260* NM_001004308.2 NP_001004308.2 Q6ZR62 ZCH16_HUMAN zinc finger, CCHC domain containing 16 260 nucleic acid binding|zinc ion binding p.R260G(1) cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(16)|ovary(1)|skin(1)|upper_aerodigestive_tract(1) 27 TATACAGCTGCGAGAAGGCCA 0.552000 47 114 0 0 1 0 0 TMEM215 401498 broad.mit.edu 37 9 32784684 32784684 + Missense_Mutation SNP C C T TCGA-CN-A63Y-01A-11D-A30E-08 TCGA-CN-A63Y-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1573766d-cd60-4498-bdad-dcb8d6bc88c8 8582b1ee-b97e-42ab-be9f-5d3899704723 g.chr9:32784684C>T ENST00000342743.5 + 2 868 c.503C>T c.(502-504)tCg>tTg p.S168L NM_212558.2 NP_997723.2 Q68D42 TM215_HUMAN transmembrane protein 215 168 integral to membrane endometrium(4)|kidney(1)|large_intestine(3)|lung(2)|prostate(2) 12 TACTGCCCCTCGGGCAGTTCC 0.587000 11 44 0 0 1 0 0 CNTNAP1 8506 broad.mit.edu 37 17 40845455 40845455 + Missense_Mutation SNP C C T TCGA-CN-A63Y-01A-11D-A30E-08 TCGA-CN-A63Y-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1573766d-cd60-4498-bdad-dcb8d6bc88c8 8582b1ee-b97e-42ab-be9f-5d3899704723 g.chr17:40845455C>T ENST00000264638.4 + 18 3110 c.2893C>T c.(2893-2895)Cgg>Tgg p.R965W CTD-3193K9.3_ENST00000592440.1_RNA NM_003632.2 NP_003623.1 P78357 CNTP1_HUMAN contactin associated protein 1 965 EGF-like 2. axon guidance|cell adhesion paranode region of axon receptor activity|receptor binding|SH3 domain binding|SH3/SH2 adaptor activity NS(1)|breast(4)|cervix(1)|endometrium(5)|kidney(3)|large_intestine(11)|lung(15)|ovary(5)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 49 Breast(137;0.000143) BRCA - Breast invasive adenocarcinoma(366;0.143) TGCCCACCCTCGGCTCCCCTG 0.612000 26 108 0 0 1 0 0 GRAMD1A 57655 broad.mit.edu 37 19 35501007 35501007 + Missense_Mutation SNP G G A TCGA-CN-A63Y-01A-11D-A30E-08 TCGA-CN-A63Y-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1573766d-cd60-4498-bdad-dcb8d6bc88c8 8582b1ee-b97e-42ab-be9f-5d3899704723 g.chr19:35501007G>A ENST00000599564.1 + 6 669 c.598G>A c.(598-600)Gcc>Acc p.A200T GRAMD1A_ENST00000424536.2_Missense_Mutation_p.A113T|GRAMD1A_ENST00000411896.2_Missense_Mutation_p.A106T|GRAMD1A_ENST00000504615.2_5'UTR|GRAMD1A_ENST00000317991.5_Missense_Mutation_p.A113T|GRAMD1A_ENST00000598073.1_3'UTR Q96CP6 GRM1A_HUMAN GRAM domain containing 1A 113 integral to membrane NS(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(1)|lung(10)|prostate(1)|upper_aerodigestive_tract(1) 19 all_lung(56;2.66e-08)|Lung NSC(56;4.13e-08)|Esophageal squamous(110;0.162) LUSC - Lung squamous cell carcinoma(66;0.0849) TTACTCCTGCGCCCTGCAGCG 0.652000 5 142 0 0 1 0 0 NR1H2 7376 broad.mit.edu 37 19 50881514 50881514 + Missense_Mutation SNP T T C TCGA-CN-A63Y-01A-11D-A30E-08 TCGA-CN-A63Y-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1573766d-cd60-4498-bdad-dcb8d6bc88c8 8582b1ee-b97e-42ab-be9f-5d3899704723 g.chr19:50881514T>C ENST00000253727.5 + 5 525 c.290T>C c.(289-291)tTc>tCc p.F97S NR1H2_ENST00000598168.1_Missense_Mutation_p.F97S|NR1H2_ENST00000593926.1_Missense_Mutation_p.F97S|NR1H2_ENST00000411902.2_Intron|NR1H2_ENST00000599105.1_Missense_Mutation_p.F97S|NR1H2_ENST00000542413.1_5'UTR NM_007121.5 NP_009052.3 P55055 NR1H2_HUMAN nuclear receptor subfamily 1, group H, member 2 97 negative regulation of cholesterol storage|negative regulation of interferon-gamma-mediated signaling pathway|negative regulation of lipid transport|negative regulation of pinocytosis|negative regulation of transcription, DNA-dependent|positive regulation of cellular protein metabolic process|positive regulation of cholesterol efflux|positive regulation of fatty acid biosynthetic process|positive regulation of lipoprotein lipase activity|positive regulation of transcription from RNA polymerase II promoter|positive regulation of triglyceride biosynthetic process|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor cytoplasm|nucleoplasm sequence-specific DNA binding|steroid hormone receptor activity|zinc ion binding endometrium(2)|large_intestine(1)|lung(3)|upper_aerodigestive_tract(2) 8 all_neural(266;0.057) OV - Ovarian serous cystadenocarcinoma(262;0.00757)|GBM - Glioblastoma multiforme(134;0.0186) GCCTCCGGCTTCCACTACAAC 0.657000 58 258 0 0 1 0 0 RNF144A 9781 broad.mit.edu 37 2 7179775 7179775 + Missense_Mutation SNP G G T TCGA-CN-A63Y-01A-11D-A30E-08 TCGA-CN-A63Y-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1573766d-cd60-4498-bdad-dcb8d6bc88c8 8582b1ee-b97e-42ab-be9f-5d3899704723 g.chr2:7179775G>T ENST00000320892.6 + 9 1205 c.763G>T c.(763-765)Gca>Tca p.A255S RNF144A_ENST00000467276.1_3'UTR NM_014746.3 NP_055561.2 P50876 R144A_HUMAN ring finger protein 144A 255 Golgi apparatus|integral to membrane ligase activity|zinc ion binding breast(1)|endometrium(3)|kidney(2)|large_intestine(2)|lung(15)|ovary(1)|prostate(1) 25 all_hematologic(175;0.127)|Acute lymphoblastic leukemia(172;0.155) all_cancers(51;0.226) OV - Ovarian serous cystadenocarcinoma(76;0.195) GGGCATTTTTGCAGGATTTGG 0.507000 28 121 9.65963e-10 9.97896e-10 1 1 0 PPFIA3 8541 broad.mit.edu 37 19 49643235 49643235 + Missense_Mutation SNP C C G TCGA-CN-A63Y-01A-11D-A30E-08 TCGA-CN-A63Y-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1573766d-cd60-4498-bdad-dcb8d6bc88c8 8582b1ee-b97e-42ab-be9f-5d3899704723 g.chr19:49643235C>G ENST00000334186.4 + 18 2607 c.2258C>G c.(2257-2259)tCt>tGt p.S753C PPFIA3_ENST00000602351.1_Missense_Mutation_p.S753C NM_003660.2 NP_003651.1 O75145 LIPA3_HUMAN protein tyrosine phosphatase, receptor type, f polypeptide (PTPRF), interacting protein (liprin), alpha 3 753 cell surface|cytoplasm protein binding NS(1)|breast(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(4)|liver(2)|lung(16)|pancreas(1)|prostate(1)|skin(4)|urinary_tract(1) 35 all_lung(116;3.16e-06)|Lung NSC(112;6.25e-06)|all_neural(266;0.0189)|Ovarian(192;0.0392) all cancers(93;2.36e-05)|OV - Ovarian serous cystadenocarcinoma(262;0.000203)|GBM - Glioblastoma multiforme(486;0.00307)|Epithelial(262;0.00677) ACCCCAGATTCTCTGCACAAA 0.562000 34 99 0 0 1 0 0 NIPBL 25836 broad.mit.edu 37 5 37051941 37051941 + Missense_Mutation SNP G G A TCGA-CN-A63Y-01A-11D-A30E-08 TCGA-CN-A63Y-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1573766d-cd60-4498-bdad-dcb8d6bc88c8 8582b1ee-b97e-42ab-be9f-5d3899704723 g.chr5:37051941G>A ENST00000282516.8 + 41 7514 c.7015G>A c.(7015-7017)Gat>Aat p.D2339N NIPBL_ENST00000448238.2_Missense_Mutation_p.D2339N NM_015384.4|NM_133433.3 NP_056199.2|NP_597677.2 Q6KC79 NIPBL_HUMAN Nipped-B homolog (Drosophila) 2339 brain development|cellular protein localization|cellular response to X-ray|cognition|developmental growth|ear morphogenesis|embryonic arm morphogenesis|embryonic digestive tract morphogenesis|external genitalia morphogenesis|eye morphogenesis|face morphogenesis|gall bladder development|maintenance of mitotic sister chromatid cohesion|metanephros development|negative regulation of transcription from RNA polymerase II promoter|outflow tract morphogenesis|positive regulation of histone deacetylation|regulation of developmental growth|regulation of embryonic development|regulation of hair cycle|response to DNA damage stimulus|sensory perception of sound|uterus morphogenesis SMC loading complex chromo shadow domain binding|histone deacetylase binding|protein C-terminus binding|protein N-terminus binding autonomic_ganglia(1)|breast(4)|endometrium(9)|kidney(22)|large_intestine(21)|liver(1)|lung(47)|ovary(7)|pancreas(1)|prostate(1)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(4) 128 all_lung(31;0.000447)|Hepatocellular(1;0.108) Epithelial(62;0.072)|COAD - Colon adenocarcinoma(61;0.14)|all cancers(62;0.191)|Colorectal(62;0.202) GAACAAGGCTGATCAGCAACT 0.323000 11 45 0 0 1 0 0 CLIC6 54102 broad.mit.edu 37 21 36081714 36081714 + Missense_Mutation SNP C C G TCGA-CN-A63Y-01A-11D-A30E-08 TCGA-CN-A63Y-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1573766d-cd60-4498-bdad-dcb8d6bc88c8 8582b1ee-b97e-42ab-be9f-5d3899704723 g.chr21:36081714C>G ENST00000360731.3 + 6 1831 c.1831C>G c.(1831-1833)Ctg>Gtg p.L611V CLIC6_ENST00000349499.2_Missense_Mutation_p.L593V Q96NY7 CLIC6_HUMAN chloride intracellular channel 6 611 GST C-terminal. chloride channel complex|cytoplasm|plasma membrane voltage-gated chloride channel activity breast(1)|central_nervous_system(2)|endometrium(2)|kidney(3)|large_intestine(2)|lung(2)|ovary(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2) 19 AAATAGCCCTCTGCCTGATGA 0.468000 5 64 0 0 1 0 0 LIMS1 3987 broad.mit.edu 37 2 109276203 109276203 + Missense_Mutation SNP G G A TCGA-CN-A63Y-01A-11D-A30E-08 TCGA-CN-A63Y-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1573766d-cd60-4498-bdad-dcb8d6bc88c8 8582b1ee-b97e-42ab-be9f-5d3899704723 g.chr2:109276203G>A ENST00000393310.1 + 2 306 c.139G>A c.(139-141)Gaa>Aaa p.E47K LIMS1_ENST00000409441.1_Missense_Mutation_p.E84K|LIMS1_ENST00000544547.1_Missense_Mutation_p.E59K|LIMS1_ENST00000332345.6_Missense_Mutation_p.E47K|LIMS1_ENST00000338045.3_Missense_Mutation_p.E47K|LIMS1_ENST00000542845.1_Missense_Mutation_p.E109K|LIMS1_ENST00000393314.2_Missense_Mutation_p.E109K|LIMS1_ENST00000462817.1_3'UTR|LIMS1_ENST00000410093.1_Missense_Mutation_p.E51K NM_001193488.1 NP_001180417.1 P48059 LIMS1_HUMAN LIM and senescent cell antigen-like domains 1 47 LIM zinc-binding 1. cell aging|cell junction assembly|cellular response to transforming growth factor beta stimulus|negative regulation of transcription, DNA-dependent cytosol|focal adhesion|perinuclear region of cytoplasm protein binding|zinc ion binding breast(2)|endometrium(2)|kidney(1)|large_intestine(1)|lung(4) 10 GCAGTTCCCAGAAGGACTCTT 0.577000 13 50 0 0 1 0 0 CAPN3 825 broad.mit.edu 37 15 42694331 42694331 + Missense_Mutation SNP G G C TCGA-CN-A63Y-01A-11D-A30E-08 TCGA-CN-A63Y-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1573766d-cd60-4498-bdad-dcb8d6bc88c8 8582b1ee-b97e-42ab-be9f-5d3899704723 g.chr15:42694331G>C ENST00000397163.3 + 12 1753 c.1534G>C c.(1534-1536)Gag>Cag p.E512Q CAPN3_ENST00000357568.3_Missense_Mutation_p.E512Q|CAPN3_ENST00000356316.3_Missense_Mutation_p.E425Q|CAPN3_ENST00000349748.3_Missense_Mutation_p.E464Q|RP11-164J13.1_ENST00000495723.1_RNA|CAPN3_ENST00000318023.7_Intron NM_000070.2 NP_000061.1 P20807 CAN3_HUMAN calpain 3, (p94) 512 Domain III. muscle organ development|proteolysis cytoplasm calcium ion binding|calcium-dependent cysteine-type endopeptidase activity|signal transducer activity NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(8)|lung(21)|prostate(3)|skin(2)|upper_aerodigestive_tract(1) 47 all_cancers(109;1.65e-16)|all_epithelial(112;8.34e-15)|Lung NSC(122;3.56e-09)|all_lung(180;1.68e-08)|Melanoma(134;0.0574)|Colorectal(260;0.152) GBM - Glioblastoma multiforme(94;7.36e-07) GGTTCCCAAAGAGGTATAGCA 0.572000 4 162 0 0 1 0 0 HPS4 89781 broad.mit.edu 37 22 26860540 26860540 + Silent SNP G G A TCGA-CN-A63Y-01A-11D-A30E-08 TCGA-CN-A63Y-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1573766d-cd60-4498-bdad-dcb8d6bc88c8 8582b1ee-b97e-42ab-be9f-5d3899704723 g.chr22:26860540G>A ENST00000398145.2 - 11 1672 c.1056C>T c.(1054-1056)ctC>ctT p.L352L HPS4_ENST00000402105.3_Silent_p.L347L|HPS4_ENST00000336873.5_Silent_p.L352L|HPS4_ENST00000398141.1_Silent_p.L365L NM_022081.4 NP_071364.4 Q9NQG7 HPS4_HUMAN Hermansky-Pudlak syndrome 4 352 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 GGGAGGAGCTGAGGCCAAGAA 0.552000 Hermansky-Pudlak syndrome 20 88 0 0 1 0 0 SAMD14 201191 broad.mit.edu 37 17 48195580 48195580 + Missense_Mutation SNP C C T TCGA-CN-A63Y-01A-11D-A30E-08 TCGA-CN-A63Y-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1573766d-cd60-4498-bdad-dcb8d6bc88c8 8582b1ee-b97e-42ab-be9f-5d3899704723 g.chr17:48195580C>T ENST00000330175.4 - 3 472 c.155G>A c.(154-156)cGg>cAg p.R52Q SAMD14_ENST00000503734.1_5'UTR|SAMD14_ENST00000503131.1_Missense_Mutation_p.R52Q NM_001257359.1 NP_001244288.1 Q8IZD0 SAM14_HUMAN sterile alpha motif domain containing 14 52 breast(1)|endometrium(1)|kidney(4)|large_intestine(4)|lung(3)|prostate(1)|urinary_tract(1) 15 GGCACTGTCCCGAAGCCTGGA 0.642000 26 87 0 0 1 0 0 RNMTL1 55178 broad.mit.edu 37 17 686360 686360 + Missense_Mutation SNP G G A TCGA-CN-A63Y-01A-11D-A30E-08 TCGA-CN-A63Y-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1573766d-cd60-4498-bdad-dcb8d6bc88c8 8582b1ee-b97e-42ab-be9f-5d3899704723 g.chr17:686360G>A ENST00000304478.4 + 2 458 c.352G>A c.(352-354)Gaa>Aaa p.E118K NM_018146.2 NP_060616.1 Q9HC36 RMTL1_HUMAN RNA methyltransferase like 1 118 RNA processing protein binding|RNA binding|RNA methyltransferase activity breast(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(1)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1) 10 UCEC - Uterine corpus endometrioid carcinoma (25;0.0219) GCCATTTCGGGAAAAACAAGG 0.423000 16 71 0 0 1 0 0 STXBP5L 9515 broad.mit.edu 37 3 121126200 121126200 + Missense_Mutation SNP G G A TCGA-CN-A63Y-01A-11D-A30E-08 TCGA-CN-A63Y-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1573766d-cd60-4498-bdad-dcb8d6bc88c8 8582b1ee-b97e-42ab-be9f-5d3899704723 g.chr3:121126200G>A ENST00000273666.6 + 24 3041 c.2770G>A c.(2770-2772)Gaa>Aaa p.E924K STXBP5L_ENST00000472879.1_Missense_Mutation_p.E900K|STXBP5L_ENST00000492541.1_Missense_Mutation_p.E924K|STXBP5L_ENST00000471454.1_Missense_Mutation_p.E900K|STXBP5L_ENST00000497029.1_Missense_Mutation_p.E898K NM_014980.2 NP_055795.1 Q9Y2K9 STB5L_HUMAN syntaxin binding protein 5-like 924 exocytosis|protein transport cytoplasm|integral to membrane|plasma membrane NS(1)|breast(3)|endometrium(3)|kidney(3)|large_intestine(12)|lung(28)|ovary(7)|prostate(3)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(1) 68 GBM - Glioblastoma multiforme(114;0.0694) CAACATAGATGAAAATGAAAA 0.393000 6 50 0 0 1 0 0 SSSCA1 10534 broad.mit.edu 37 11 65338432 65338432 + Missense_Mutation SNP G G A TCGA-CN-A63Y-01A-11D-A30E-08 TCGA-CN-A63Y-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1573766d-cd60-4498-bdad-dcb8d6bc88c8 8582b1ee-b97e-42ab-be9f-5d3899704723 g.chr11:65338432G>A ENST00000531405.1 + 2 372 c.136G>A c.(136-138)Gat>Aat p.D46N SSSCA1_ENST00000527920.1_Missense_Mutation_p.D46N|SSSCA1_ENST00000309328.3_Missense_Mutation_p.D83N|SSSCA1_ENST00000526877.1_Silent_p.K77K O60232 SSA27_HUMAN Sjogren syndrome/scleroderma autoantigen 1 83 cell division|mitosis protein binding kidney(1)|lung(4)|ovary(1)|prostate(1)|skin(1) 8 CGTGGATAAAGATAATCCCGG 0.522000 11 29 0 0 1 0 0 SCN9A 6335 broad.mit.edu 37 2 167055739 167055739 + Missense_Mutation SNP C C T TCGA-CN-A63Y-01A-11D-A30E-08 TCGA-CN-A63Y-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1573766d-cd60-4498-bdad-dcb8d6bc88c8 8582b1ee-b97e-42ab-be9f-5d3899704723 g.chr2:167055739C>T ENST00000375387.4 - 27 5753 c.5413G>A c.(5413-5415)Gat>Aat p.D1805N AC010127.3_ENST00000447809.2_RNA|SCN9A_ENST00000409672.1_Missense_Mutation_p.D1793N|SCN9A_ENST00000409435.1_Missense_Mutation_p.D1804N|SCN9A_ENST00000303354.6_Missense_Mutation_p.D1805N Q15858 SCN9A_HUMAN sodium channel, voltage-gated, type IX, alpha subunit 1804 voltage-gated sodium channel complex voltage-gated sodium channel activity NS(1)|breast(5)|central_nervous_system(6)|endometrium(6)|kidney(3)|large_intestine(27)|lung(38)|ovary(6)|prostate(8)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(2) 108 Lamotrigine(DB00555)|Lidocaine(DB00281) GCTGCAAAATCAGAGAGTTTA 0.473000 35 114 0 0 1 0 0 DOPEY2 9980 broad.mit.edu 37 21 37603425 37603425 + Silent SNP G G A TCGA-CN-A63Y-01A-11D-A30E-08 TCGA-CN-A63Y-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1573766d-cd60-4498-bdad-dcb8d6bc88c8 8582b1ee-b97e-42ab-be9f-5d3899704723 g.chr21:37603425G>A ENST00000399151.3 + 14 2428 c.2343G>A c.(2341-2343)caG>caA p.Q781Q NM_005128.2 NP_005119.2 Q9Y3R5 DOP2_HUMAN dopey family member 2 781 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 CGCTCTTCCAGCTGCCAGGTG 0.587000 22 70 0 0 1 0 0 CACNB3 784 broad.mit.edu 37 12 49219232 49219232 + Nonsense_Mutation SNP C C T TCGA-CN-A63Y-01A-11D-A30E-08 TCGA-CN-A63Y-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1573766d-cd60-4498-bdad-dcb8d6bc88c8 8582b1ee-b97e-42ab-be9f-5d3899704723 g.chr12:49219232C>T ENST00000301050.2 + 8 788 c.589C>T c.(589-591)Cag>Tag p.Q197* CACNB3_ENST00000540990.1_Nonsense_Mutation_p.Q184*|CACNB3_ENST00000547392.1_Nonsense_Mutation_p.Q170*|CACNB3_ENST00000547230.1_Nonsense_Mutation_p.Q156*|CACNB3_ENST00000536187.2_Nonsense_Mutation_p.Q196* NM_000725.3 NP_000716.2 P54284 CACB3_HUMAN calcium channel, voltage-dependent, beta 3 subunit 197 axon guidance|membrane depolarization|synaptic transmission cytosol|voltage-gated calcium channel complex protein binding|voltage-gated calcium channel activity autonomic_ganglia(1)|breast(1)|large_intestine(5)|lung(4)|prostate(1) 12 Verapamil(DB00661) AGACATGATGCAGAAGGCTCT 0.567000 4 119 0 0 1 0 0 CENPF 1063 broad.mit.edu 37 1 214815174 214815174 + Missense_Mutation SNP G G C TCGA-CN-A63Y-01A-11D-A30E-08 TCGA-CN-A63Y-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1573766d-cd60-4498-bdad-dcb8d6bc88c8 8582b1ee-b97e-42ab-be9f-5d3899704723 g.chr1:214815174G>C ENST00000366955.3 + 12 3661 c.3493G>C c.(3493-3495)Gaa>Caa p.E1165Q NM_016343.3 NP_057427.3 P49454 CENPF_HUMAN centromere protein F, 350/400kDa 1237 cell differentiation|cell division|cell proliferation|DNA replication|G2 phase of mitotic cell cycle|kinetochore assembly|metaphase plate congression|mitotic cell cycle spindle assembly checkpoint|mitotic prometaphase|muscle organ development|negative regulation of transcription, DNA-dependent|protein transport|regulation of G2/M transition of mitotic cell cycle|regulation of striated muscle tissue development|response to drug condensed chromosome outer kinetochore|cytosol|midbody|nuclear envelope|nuclear matrix|perinuclear region of cytoplasm|spindle pole chromatin binding|dynein binding|protein C-terminus binding|protein homodimerization activity|transcription factor binding NS(2)|breast(2)|central_nervous_system(4)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(37)|lung(47)|ovary(7)|prostate(3)|skin(6)|stomach(1)|urinary_tract(1) 126 all cancers(67;0.00836)|OV - Ovarian serous cystadenocarcinoma(81;0.00855)|GBM - Glioblastoma multiforme(131;0.0694)|Epithelial(68;0.0833) GACTAAACATGAATGTCAAAA 0.318000 17 54 0 0 1 0 0 LPPR5 163404 broad.mit.edu 37 1 99418842 99418842 + Missense_Mutation SNP G G C TCGA-CN-A63Y-01A-11D-A30E-08 TCGA-CN-A63Y-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1573766d-cd60-4498-bdad-dcb8d6bc88c8 8582b1ee-b97e-42ab-be9f-5d3899704723 g.chr1:99418842G>C ENST00000370188.3 - 3 765 c.405C>G c.(403-405)atC>atG p.I135M LPPR5_ENST00000263177.4_Missense_Mutation_p.I135M NM_001010861.2 NP_001010861.1 Q32ZL2 LPPR5_HUMAN 135 integral to membrane hydrolase activity CATTTACAAAGATATCTGTAG 0.408000 11 62 0 0 1 0 0 SLC35E3 55508 broad.mit.edu 37 12 69140553 69140553 + Silent SNP C C T TCGA-CN-A63Y-01A-11D-A30E-08 TCGA-CN-A63Y-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1573766d-cd60-4498-bdad-dcb8d6bc88c8 8582b1ee-b97e-42ab-be9f-5d3899704723 g.chr12:69140553C>T ENST00000398004.2 + 1 668 c.396C>T c.(394-396)ctC>ctT p.L132L NM_018656.2 NP_061126.2 Q7Z769 S35E3_HUMAN solute carrier family 35, member E3 132 integral to membrane cervix(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(6)|upper_aerodigestive_tract(1) 12 Breast(13;2.31e-06)|Renal(347;0.0684) Lung(24;0.000131)|LUAD - Lung adenocarcinoma(15;0.00107)|STAD - Stomach adenocarcinoma(21;0.00372) GAATCCAGCTCACGCTGGTGA 0.582000 31 126 0 0 1 0 0 MROH5 389690 broad.mit.edu 37 8 142446099 142446099 + RNA SNP C C G TCGA-CN-A63Y-01A-11D-A30E-08 TCGA-CN-A63Y-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1573766d-cd60-4498-bdad-dcb8d6bc88c8 8582b1ee-b97e-42ab-be9f-5d3899704723 g.chr8:142446099C>G ENST00000606664.1 + 0 1455 MROH5_ENST00000430863.1_RNA CCGCTCAGCTCCCTGTCTGCC 0.687000 6 58 0 0 1 0 0 ABCG4 64137 broad.mit.edu 37 11 119031274 119031274 + Silent SNP C C T TCGA-CN-A63Y-01A-11D-A30E-08 TCGA-CN-A63Y-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1573766d-cd60-4498-bdad-dcb8d6bc88c8 8582b1ee-b97e-42ab-be9f-5d3899704723 g.chr11:119031274C>T ENST00000307417.3 + 14 1987 c.1623C>T c.(1621-1623)acC>acT p.T541T ABCG4_ENST00000449422.2_Silent_p.T541T|ABCG4_ENST00000531739.1_Silent_p.T541T NM_022169.4 NP_071452.2 Q9H172 ABCG4_HUMAN ATP-binding cassette, sub-family G (WHITE), member 4 541 ABC transmembrane type-2. cholesterol efflux integral to membrane ATP binding|ATPase activity|protein heterodimerization activity|protein homodimerization activity breast(1)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(6)|lung(28)|ovary(2)|prostate(1)|skin(1) 44 all_hematologic(175;0.0977) Medulloblastoma(222;0.0425)|Breast(348;0.052)|all_neural(223;0.112) BRCA - Breast invasive adenocarcinoma(274;7.7e-05) GCCCAGTTACCGCCATCCCTG 0.567000 6 338 0 0 1 0 0 ARHGAP15 55843 broad.mit.edu 37 2 143959724 143959724 + Missense_Mutation SNP C C T TCGA-CN-A63Y-01A-11D-A30E-08 TCGA-CN-A63Y-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1573766d-cd60-4498-bdad-dcb8d6bc88c8 8582b1ee-b97e-42ab-be9f-5d3899704723 g.chr2:143959724C>T ENST00000409869.1 + 4 364 c.187C>T c.(187-189)Cat>Tat p.H63Y ARHGAP15_ENST00000295095.6_Missense_Mutation_p.H63Y Q53QZ3 RHG15_HUMAN Rho GTPase activating protein 15 63 regulation of cell shape|small GTPase mediated signal transduction cytosol|membrane protein binding|Rac GTPase activator activity endometrium(1)|kidney(5)|large_intestine(8)|liver(2)|lung(15)|ovary(1)|skin(2) 34 BRCA - Breast invasive adenocarcinoma(221;0.151) CAGAAGGAATCATTCACAGCA 0.299000 15 54 0 0 1 0 0 FRY 10129 broad.mit.edu 37 13 32752454 32752454 + Silent SNP C C G TCGA-CN-A63Y-01A-11D-A30E-08 TCGA-CN-A63Y-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1573766d-cd60-4498-bdad-dcb8d6bc88c8 8582b1ee-b97e-42ab-be9f-5d3899704723 g.chr13:32752454C>G ENST00000380250.3 + 21 3058 c.2562C>G c.(2560-2562)ctC>ctG p.L854L NM_023037.2 NP_075463.2 Q5TBA9 FRY_HUMAN furry homolog (Drosophila) 854 regulation of transcription, DNA-dependent|transcription, DNA-dependent integral to membrane NS(3)|breast(4)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(31)|lung(50)|ovary(5)|pancreas(1)|prostate(6)|skin(9)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 132 Lung SC(185;0.0271) all cancers(112;4.81e-05)|Epithelial(112;0.000656)|OV - Ovarian serous cystadenocarcinoma(117;0.0123)|BRCA - Breast invasive adenocarcinoma(63;0.0295)|GBM - Glioblastoma multiforme(144;0.104) CCTGGGTCCTCTGCCTCTTCA 0.547000 5 148 0 0 1 0 0 RARG 5916 broad.mit.edu 37 12 53621202 53621202 + Missense_Mutation SNP C C A TCGA-CN-A63Y-01A-11D-A30E-08 TCGA-CN-A63Y-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1573766d-cd60-4498-bdad-dcb8d6bc88c8 8582b1ee-b97e-42ab-be9f-5d3899704723 g.chr12:53621202C>A ENST00000425354.2 - 3 615 c.128G>T c.(127-129)aGc>aTc p.S43I RARG_ENST00000543762.1_Intron|RARG_ENST00000327550.3_Intron|RARG_ENST00000394426.1_Missense_Mutation_p.S43I NM_000966.5 NP_000957.1 P13631 RARG_HUMAN retinoic acid receptor, gamma 43 Modulating. canonical Wnt receptor signaling pathway|embryonic eye morphogenesis|embryonic hindlimb morphogenesis|negative regulation of cell proliferation|negative regulation of transcription from RNA polymerase II promoter|positive regulation of apoptosis|positive regulation of transcription from RNA polymerase II promoter|regulation of cell size|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor|response to retinoic acid integral to membrane|transcription factor complex retinoic acid receptor activity|retinoid X receptor binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|steroid hormone receptor activity|zinc ion binding breast(3)|endometrium(3)|kidney(1)|large_intestine(6)|lung(3)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 20 Acitretin(DB00459)|Adapalene(DB00210)|Alitretinoin(DB00523)|Etretinate(DB00926)|Tazarotene(DB00799)|Tretinoin(DB00755) GAAGCTAGGGCTCAGCATCTC 0.632000 14 55 6.72482e-11 6.97596e-11 1 1 0 CHFR 55743 broad.mit.edu 37 12 133435802 133435802 + Missense_Mutation SNP C C G TCGA-CN-A63Y-01A-11D-A30E-08 TCGA-CN-A63Y-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1573766d-cd60-4498-bdad-dcb8d6bc88c8 8582b1ee-b97e-42ab-be9f-5d3899704723 g.chr12:133435802C>G ENST00000266880.7 - 8 862 c.799G>C c.(799-801)Gac>Cac p.D267H CHFR_ENST00000443047.2_Missense_Mutation_p.D175H|CHFR_ENST00000315585.7_Missense_Mutation_p.D226H|CHFR_ENST00000450056.2_Missense_Mutation_p.D255H|CHFR_ENST00000541837.2_5'UTR|CHFR_ENST00000432561.2_Missense_Mutation_p.D267H Q96EP1 CHFR_HUMAN checkpoint with forkhead and ring finger domains, E3 ubiquitin protein ligase 267 cell division|mitosis|mitotic cell cycle checkpoint|modification-dependent protein catabolic process|protein polyubiquitination PML body nucleotide binding|protein binding|ubiquitin-protein ligase activity|zinc ion binding p.D226N(1) breast(1)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(4)|lung(10)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 26 all_neural(191;0.0982)|Medulloblastoma(191;0.163) all_cancers(7;0.00552)|all_epithelial(31;0.226) OV - Ovarian serous cystadenocarcinoma(86;2.59e-08)|Epithelial(86;6.38e-07)|all cancers(50;1.56e-05) CCGTTCAGGTCAAGGTCCCCA 0.552000 25 115 0 0 1 0 0 HPD 3242 broad.mit.edu 37 12 122277703 122277703 + Missense_Mutation SNP G G C TCGA-CN-A63Y-01A-11D-A30E-08 TCGA-CN-A63Y-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1573766d-cd60-4498-bdad-dcb8d6bc88c8 8582b1ee-b97e-42ab-be9f-5d3899704723 g.chr12:122277703G>C ENST00000543163.1 - 15 1441 c.996C>G c.(994-996)ttC>ttG p.F332L HPD_ENST00000289004.4_Missense_Mutation_p.F371L NM_001171993.1 NP_001165464.1 P32754 HPPD_HUMAN 4-hydroxyphenylpyruvate dioxygenase 371 L-phenylalanine catabolic process|tyrosine catabolic process cytosol 4-hydroxyphenylpyruvate dioxygenase activity|metal ion binding breast(1)|cervix(1)|kidney(1)|large_intestine(6)|lung(8)|urinary_tract(1) 18 all_neural(191;0.0684)|Medulloblastoma(191;0.0922) OV - Ovarian serous cystadenocarcinoma(86;0.000105)|Epithelial(86;0.000352)|BRCA - Breast invasive adenocarcinoma(302;0.225) Nitisinone(DB00348) GCTCCTCCTCGAAAGCCTTGA 0.602000 21 94 0 0 1 0 0 FAM209A 200232 broad.mit.edu 37 20 55100096 55100096 + Missense_Mutation SNP G G C TCGA-CN-A63Y-01A-11D-A30E-08 TCGA-CN-A63Y-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1573766d-cd60-4498-bdad-dcb8d6bc88c8 8582b1ee-b97e-42ab-be9f-5d3899704723 g.chr20:55100096G>C ENST00000371328.3 + 1 555 c.232G>C c.(232-234)Gac>Cac p.D78H GCNT7_ENST00000243913.4_Intron|FAM209A_ENST00000481560.1_3'UTR NM_001012971.3 NP_001012989.2 family with sequence similarity 209, member A GTGTCAAAGAGACAGTGAGAA 0.453000 25 109 0 0 1 0 0 SEC16B 89866 broad.mit.edu 37 1 177915616 177915616 + Missense_Mutation SNP C C T TCGA-CN-A63Y-01A-11D-A30E-08 TCGA-CN-A63Y-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1573766d-cd60-4498-bdad-dcb8d6bc88c8 8582b1ee-b97e-42ab-be9f-5d3899704723 g.chr1:177915616C>T ENST00000308284.6 - 14 1803 c.1714G>A c.(1714-1716)Gtg>Atg p.V572M SEC16B_ENST00000464631.1_Missense_Mutation_p.V573M|RP4-798P15.3_ENST00000528461.1_3'UTR|RP4-798P15.3_ENST00000354921.2_5'UTR NM_033127.2 NP_149118.2 Q96JE7 SC16B_HUMAN SEC16 homolog B (S. cerevisiae) 572 protein transport|vesicle-mediated transport endoplasmic reticulum membrane|Golgi membrane central_nervous_system(1)|endometrium(7)|kidney(1)|large_intestine(7)|lung(14)|ovary(3)|skin(1)|stomach(1) 35 CCAAAGGGCACGTGAGCCATG 0.562000 OREG0014008 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 3 9 0 0 1 0 0 SAMD14 201191 broad.mit.edu 37 17 48195607 48195607 + Missense_Mutation SNP C C T TCGA-CN-A63Y-01A-11D-A30E-08 TCGA-CN-A63Y-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1573766d-cd60-4498-bdad-dcb8d6bc88c8 8582b1ee-b97e-42ab-be9f-5d3899704723 g.chr17:48195607C>T ENST00000330175.4 - 3 445 c.128G>A c.(127-129)aGa>aAa p.R43K SAMD14_ENST00000503734.1_5'UTR|SAMD14_ENST00000503131.1_Missense_Mutation_p.R43K NM_001257359.1 NP_001244288.1 Q8IZD0 SAM14_HUMAN sterile alpha motif domain containing 14 43 breast(1)|endometrium(1)|kidney(4)|large_intestine(4)|lung(3)|prostate(1)|urinary_tract(1) 15 TGGCCGGTGTCTCCGGCCCTT 0.657000 24 76 0 0 1 0 0 ARHGAP21 57584 broad.mit.edu 37 10 24874616 24874616 + Silent SNP C C T TCGA-CN-A63Y-01A-11D-A30E-08 TCGA-CN-A63Y-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1573766d-cd60-4498-bdad-dcb8d6bc88c8 8582b1ee-b97e-42ab-be9f-5d3899704723 g.chr10:24874616C>T ENST00000396432.2 - 26 5088 c.4602G>A c.(4600-4602)caG>caA p.Q1534Q NM_020824.3 NP_065875.3 Q5T5U3 RHG21_HUMAN Rho GTPase activating protein 21 1533 signal transduction cell junction|cytoplasmic vesicle membrane|cytoskeleton|Golgi membrane GTPase activator activity|protein binding NS(1)|breast(4)|central_nervous_system(1)|cervix(1)|endometrium(11)|kidney(4)|large_intestine(17)|lung(21)|ovary(7)|pancreas(1)|prostate(5)|skin(2)|stomach(2)|urinary_tract(1) 78 GGGAGGACTTCTGTGCCAGAA 0.522000 6 194 0 0 1 0 0 UGT3A1 133688 broad.mit.edu 37 5 35968190 35968190 + Missense_Mutation SNP G G A TCGA-CN-A63Y-01A-11D-A30E-08 TCGA-CN-A63Y-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1573766d-cd60-4498-bdad-dcb8d6bc88c8 8582b1ee-b97e-42ab-be9f-5d3899704723 g.chr5:35968190G>A ENST00000274278.3 - 3 599 c.242C>T c.(241-243)tCa>tTa p.S81L UGT3A1_ENST00000503189.1_Missense_Mutation_p.S81L|UGT3A1_ENST00000507113.1_Missense_Mutation_p.S47L|UGT3A1_ENST00000513233.1_Intron|UGT3A1_ENST00000333811.4_Missense_Mutation_p.S27L NM_152404.3 NP_689617.3 Q6NUS8 UD3A1_HUMAN UDP glycosyltransferase 3 family, polypeptide A1 81 integral to membrane glucuronosyltransferase activity breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(8)|lung(28)|ovary(2)|skin(4) 46 all_lung(31;0.000197) Epithelial(62;0.107)|Lung(74;0.111)|COAD - Colon adenocarcinoma(61;0.14)|Colorectal(62;0.202) ATCTTCAGGTGAAAACCACCT 0.318000 6 27 0 0 1 0 0 PNMA5 114824 broad.mit.edu 37 X 152159374 152159374 + Missense_Mutation SNP C C G TCGA-CN-A63Y-01A-11D-A30E-08 TCGA-CN-A63Y-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1573766d-cd60-4498-bdad-dcb8d6bc88c8 8582b1ee-b97e-42ab-be9f-5d3899704723 g.chrX:152159374C>G ENST00000439251.1 - 2 1207 c.769G>C c.(769-771)Gag>Cag p.E257Q PNMA5_ENST00000361887.5_Missense_Mutation_p.E257Q|PNMA5_ENST00000452693.1_Missense_Mutation_p.E257Q|PNMA5_ENST00000535214.1_Missense_Mutation_p.E257Q NM_001103150.1 NP_001096620.1 Q96PV4 PNMA5_HUMAN paraneoplastic Ma antigen family member 5 257 apoptosis breast(2)|endometrium(3)|kidney(1)|large_intestine(6)|lung(6)|ovary(3)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1) 25 Acute lymphoblastic leukemia(192;6.56e-05) GAGACTTTCTCTCCAATCTTC 0.522000 32 67 0 0 1 0 0 DNASE1 1773 broad.mit.edu 37 16 3707065 3707065 + Missense_Mutation SNP G G A TCGA-CN-A63Y-01A-11D-A30E-08 TCGA-CN-A63Y-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1573766d-cd60-4498-bdad-dcb8d6bc88c8 8582b1ee-b97e-42ab-be9f-5d3899704723 g.chr16:3707065G>A ENST00000246949.5 + 6 3711 c.502G>A c.(502-504)Gct>Act p.A168T DNASE1_ENST00000414110.2_Intron|DNASE1_ENST00000407479.1_Missense_Mutation_p.A168T NM_005223.3 NP_005214.2 P24855 DNAS1_HUMAN deoxyribonuclease I 168 apoptosis|DNA catabolic process extracellular region|nuclear envelope actin binding|deoxyribonuclease I activity lung(1) 1 Ovarian(90;0.0261) Kidney(780;0.0556) Dornase Alfa(DB00003) CGAGATCGACGCTCTCTATGA 0.642000 11 46 0 0 1 0 0 SRP54 6729 broad.mit.edu 37 14 35477865 35477865 + Missense_Mutation SNP G G C TCGA-CN-A63Y-01A-11D-A30E-08 TCGA-CN-A63Y-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1573766d-cd60-4498-bdad-dcb8d6bc88c8 8582b1ee-b97e-42ab-be9f-5d3899704723 g.chr14:35477865G>C ENST00000556994.1 + 7 790 c.393G>C c.(391-393)aaG>aaC p.K131N SRP54_ENST00000555557.1_Missense_Mutation_p.K67N|SRP54_ENST00000546080.1_Missense_Mutation_p.K82N|SRP54_ENST00000216774.6_Missense_Mutation_p.K131N P61011 SRP54_HUMAN signal recognition particle 54kDa 131 G-domain. GTP catabolic process|response to drug|SRP-dependent cotranslational protein targeting to membrane, signal sequence recognition|SRP-dependent cotranslational protein targeting to membrane, translocation cytosol|nuclear speck|signal recognition particle, endoplasmic reticulum targeting 7S RNA binding|drug binding|endoplasmic reticulum signal peptide binding|GDP binding|GTP binding|nucleoside-triphosphatase activity|ribonucleoprotein binding NS(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(4)|ovary(1)|upper_aerodigestive_tract(1) 14 Breast(36;0.0545)|Hepatocellular(127;0.158) LUAD - Lung adenocarcinoma(48;2.48e-05)|Lung(238;3.13e-05)|Epithelial(34;0.0314)|all cancers(34;0.0797)|BRCA - Breast invasive adenocarcinoma(188;0.243) GBM - Glioblastoma multiforme(112;0.0396) AAGGTTGGAAGACCTGTTTAA 0.269000 8 40 0 0 1 0 0 PSG4 5672 broad.mit.edu 37 19 43699348 43699348 + Missense_Mutation SNP C C T TCGA-CN-A63Y-01A-11D-A30E-08 TCGA-CN-A63Y-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1573766d-cd60-4498-bdad-dcb8d6bc88c8 8582b1ee-b97e-42ab-be9f-5d3899704723 g.chr19:43699348C>T ENST00000405312.3 - 4 1024 c.787G>A c.(787-789)Gaa>Aaa p.E263K PSG4_ENST00000244295.9_Intron|PSG4_ENST00000433626.2_Missense_Mutation_p.E170K NM_002780.3 NP_002771.2 Q00888 PSG4_HUMAN pregnancy specific beta-1-glycoprotein 4 263 Ig-like C2-type 2. defense response|female pregnancy extracellular region central_nervous_system(1)|endometrium(2)|large_intestine(8)|lung(10)|ovary(1)|pancreas(1)|upper_aerodigestive_tract(1) 24 Prostate(69;0.00682) CTCTTAGGTTCACAGGTGAAG 0.453000 63 255 0 0 1 0 0 SUOX 6821 broad.mit.edu 37 12 56397864 56397864 + Missense_Mutation SNP C C T TCGA-CN-A63Y-01A-11D-A30E-08 TCGA-CN-A63Y-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1573766d-cd60-4498-bdad-dcb8d6bc88c8 8582b1ee-b97e-42ab-be9f-5d3899704723 g.chr12:56397864C>T ENST00000394109.3 + 3 1415 c.691C>T c.(691-693)Cgc>Tgc p.R231C SUOX_ENST00000394115.2_Missense_Mutation_p.R231C|SUOX_ENST00000356124.4_Missense_Mutation_p.R231C|SUOX_ENST00000266971.3_Missense_Mutation_p.R231C|SUOX_ENST00000548274.1_Missense_Mutation_p.R231C|SUOX_ENST00000551841.2_Intron P51687 SUOX_HUMAN sulfite oxidase 231 Molybdenum-pterin domain (By similarity). mitochondrial intermembrane space electron carrier activity|molybdenum ion binding|sulfite oxidase activity central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(6) 15 UCEC - Uterine corpus endometrioid carcinoma (6;0.0471)|OV - Ovarian serous cystadenocarcinoma(18;0.119) AGACACCTATCGCTTACACGT 0.532000 6 71 0 0 1 0 0 SLC25A36 55186 broad.mit.edu 37 3 140695131 140695131 + Nonsense_Mutation SNP G G T TCGA-CN-A63Y-01A-11D-A30E-08 TCGA-CN-A63Y-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1573766d-cd60-4498-bdad-dcb8d6bc88c8 8582b1ee-b97e-42ab-be9f-5d3899704723 g.chr3:140695131G>T ENST00000446041.2 + 7 994 c.769G>T c.(769-771)Gga>Tga p.G257* SLC25A36_ENST00000453248.2_Nonsense_Mutation_p.G232*|SLC25A36_ENST00000324194.6_Nonsense_Mutation_p.G258* NM_001104647.1|NM_018155.2 NP_001098117.1|NP_060625.2 Q96CQ1 S2536_HUMAN solute carrier family 25 (pyrimidine nucleotide carrier ), member 36 258 response to estradiol stimulus|transmembrane transport integral to membrane|mitochondrial inner membrane binding endometrium(2)|large_intestine(2)|lung(1)|upper_aerodigestive_tract(1) 6 ACGTGAAGAGGGAACAAAATA 0.343000 8 32 1.12685e-05 1.14517e-05 1 1 0 CCNK 8812 broad.mit.edu 37 14 99961945 99961945 + Silent SNP C C T TCGA-CN-A63Y-01A-11D-A30E-08 TCGA-CN-A63Y-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1573766d-cd60-4498-bdad-dcb8d6bc88c8 8582b1ee-b97e-42ab-be9f-5d3899704723 g.chr14:99961945C>T ENST00000389879.5 + 4 513 c.390C>T c.(388-390)ggC>ggT p.G130G CCNK_ENST00000555049.1_Silent_p.G130G|CCNK_ENST00000557165.1_3'UTR NM_001099402.1 NP_001092872.1 O75909 CCNK_HUMAN cyclin K 130 cell division|mitosis|regulation of cyclin-dependent protein kinase activity|regulation of transcription, DNA-dependent|transcription from RNA polymerase II promoter protein kinase binding NS(1)|endometrium(2)|lung(3) 6 all_cancers(154;0.224)|all_epithelial(191;0.0643)|Melanoma(154;0.0866) TACAATTTGGCCAGTTTGGAG 0.383000 4 112 0 0 1 0 0 TP73-AS1 57212 broad.mit.edu 37 1 3662748 3662748 + RNA SNP G G A TCGA-CN-A63Y-01A-11D-A30E-08 TCGA-CN-A63Y-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1573766d-cd60-4498-bdad-dcb8d6bc88c8 8582b1ee-b97e-42ab-be9f-5d3899704723 g.chr1:3662748G>A ENST00000452079.1 - 0 1138 TP73-AS1_ENST00000423764.1_RNA|TP73-AS1_ENST00000544565.1_RNA|TP73-AS1_ENST00000418088.1_RNA NR_033711.1 CGAGGCGGCTGAGCTGGACAA 0.577000 4 48 0 0 1 0 0 TAOK2 9344 broad.mit.edu 37 16 29997849 29997849 + Silent SNP G G A TCGA-CN-A63Y-01A-11D-A30E-08 TCGA-CN-A63Y-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1573766d-cd60-4498-bdad-dcb8d6bc88c8 8582b1ee-b97e-42ab-be9f-5d3899704723 g.chr16:29997849G>A ENST00000308893.4 + 16 3299 c.2256G>A c.(2254-2256)ccG>ccA p.P752P TAOK2_ENST00000543033.1_Intron|TAOK2_ENST00000279394.3_Intron|TAOK2_ENST00000416441.2_Silent_p.P579P NM_001252043.1|NM_016151.3 NP_001238972.1|NP_057235.2 Q9UL54 TAOK2_HUMAN TAO kinase 2 752 actin cytoskeleton organization|activation of MAPKK activity|apoptosis|cell migration|focal adhesion assembly|positive regulation of JNK cascade|protein targeting to membrane|regulation of cell growth|regulation of cell shape|response to stress cytoplasmic vesicle membrane|cytoskeleton|dendrite|integral to membrane|nucleolus ATP binding|protein serine/threonine kinase activity breast(1)|endometrium(3)|large_intestine(5)|lung(8)|ovary(1)|prostate(3)|skin(1) 22 AGCGCCCCCCGGGCCTTCCAC 0.652000 4 167 0 0 1 0 0 TNFRSF9 3604 broad.mit.edu 37 1 7995117 7995117 + Missense_Mutation SNP G G A rs145966863 byFrequency TCGA-CN-A63Y-01A-11D-A30E-08 TCGA-CN-A63Y-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1573766d-cd60-4498-bdad-dcb8d6bc88c8 8582b1ee-b97e-42ab-be9f-5d3899704723 g.chr1:7995117G>A ENST00000377507.3 - 6 666 c.500C>T c.(499-501)cCg>cTg p.P167L NM_001561.5 NP_001552.2 Q07011 TNR9_HUMAN tumor necrosis factor receptor superfamily, member 9 167 induction of apoptosis|negative regulation of cell proliferation integral to plasma membrane binding|receptor activity p.P167L(1) NS(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(5)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2) 19 Ovarian(185;0.0634)|all_lung(157;0.151) all_epithelial(116;9.63e-21)|all_lung(118;1.29e-06)|Lung NSC(185;7.5e-06)|Renal(390;0.000147)|Breast(348;0.000625)|Colorectal(325;0.000959)|Hepatocellular(190;0.00825)|Ovarian(437;0.0253)|Myeloproliferative disorder(586;0.0255) UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|all cancers(8;2.93e-71)|GBM - Glioblastoma multiforme(8;3.72e-37)|Colorectal(212;7e-08)|COAD - Colon adenocarcinoma(227;7.71e-06)|Kidney(185;5.33e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000419)|KIRC - Kidney renal clear cell carcinoma(229;0.000979)|STAD - Stomach adenocarcinoma(132;0.00103)|READ - Rectum adenocarcinoma(331;0.0649) GGATGCTCCCGGAGAGAGGTC 0.542000 14 32 0 0 1 0 0 ATP2A1 487 broad.mit.edu 37 16 28900216 28900216 + Missense_Mutation SNP C C G TCGA-CN-A63Y-01A-11D-A30E-08 TCGA-CN-A63Y-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1573766d-cd60-4498-bdad-dcb8d6bc88c8 8582b1ee-b97e-42ab-be9f-5d3899704723 g.chr16:28900216C>G ENST00000395503.4 + 9 1221 c.1037C>G c.(1036-1038)tCt>tGt p.S346C ATP2A1_ENST00000357084.3_Missense_Mutation_p.S346C|ATP2A1_ENST00000536376.1_Missense_Mutation_p.S221C NM_004320.4 NP_004311.1 O14983 AT2A1_HUMAN ATPase, Ca++ transporting, cardiac muscle, fast twitch 1 346 apoptosis in response to endoplasmic reticulum stress|apoptotic mitochondrial changes|ATP biosynthetic process|calcium ion import|elevation of endoplasmic reticulum calcium ion concentration|elevation of mitochondrial calcium ion concentration|maintenance of mitochondrion location|negative regulation of striated muscle contraction|platelet activation|positive regulation of fast-twitch skeletal muscle fiber contraction|reduction of endoplasmic reticulum calcium ion concentration|relaxation of skeletal muscle|response to endoplasmic reticulum stress endoplasmic reticulum membrane|ER-Golgi intermediate compartment|H zone|I band|microsome|perinuclear region of cytoplasm|platelet dense tubular network membrane|sarcoplasmic reticulum|sarcoplasmic reticulum membrane ATP binding|calcium ion binding|calcium-transporting ATPase activity|protein homodimerization activity breast(1)|central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(7)|lung(10)|ovary(4)|pancreas(1)|prostate(2)|skin(3)|urinary_tract(2) 38 GGCTGCACCTCTGTCATCTGT 0.592000 58 215 0 0 1 0 0 NOV 4856 broad.mit.edu 37 8 120429126 120429126 + Nonsense_Mutation SNP C C G TCGA-CN-A63Y-01A-11D-A30E-08 TCGA-CN-A63Y-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1573766d-cd60-4498-bdad-dcb8d6bc88c8 8582b1ee-b97e-42ab-be9f-5d3899704723 g.chr8:120429126C>G ENST00000259526.3 + 2 454 c.227C>G c.(226-228)tCa>tGa p.S76* NM_002514.3 NP_002505.1 P48745 NOV_HUMAN nephroblastoma overexpressed 76 IGFBP N-terminal. regulation of cell growth growth factor activity|insulin-like growth factor binding NS(1)|breast(1)|endometrium(2)|kidney(2)|large_intestine(2)|lung(7)|ovary(2)|pancreas(1)|skin(3) 21 all_cancers(13;3.84e-26)|Lung NSC(37;1.19e-08)|Ovarian(258;0.0249)|Hepatocellular(40;0.161) STAD - Stomach adenocarcinoma(47;0.000507) Insulin Glargine recombinant(DB00047)|Insulin Lyspro recombinant(DB00046)|Insulin recombinant(DB00030)|Insulin, porcine(DB00071) GAGAGCTGCTCAGATCTGGAG 0.682000 OREG0018940 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 11 33 0 0 1 0 0 COL22A1 169044 broad.mit.edu 37 8 139845345 139845345 + Missense_Mutation SNP C C G TCGA-CN-A63Y-01A-11D-A30E-08 TCGA-CN-A63Y-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1573766d-cd60-4498-bdad-dcb8d6bc88c8 8582b1ee-b97e-42ab-be9f-5d3899704723 g.chr8:139845345C>G ENST00000303045.6 - 5 1228 c.782G>C c.(781-783)aGa>aCa p.R261T COL22A1_ENST00000435777.1_Missense_Mutation_p.R261T NM_152888.1 NP_690848.1 Q8NFW1 COMA1_HUMAN collagen, type XXII, alpha 1 261 TSP N-terminal. cell adhesion collagen|cytoplasm structural molecule activity breast(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(2)|kidney(14)|large_intestine(29)|lung(107)|ovary(13)|pancreas(1)|prostate(3)|skin(12)|upper_aerodigestive_tract(15)|urinary_tract(4) 211 all_epithelial(106;1.55e-12)|Lung NSC(106;1.67e-05)|all_lung(105;3.39e-05)|Ovarian(258;0.00672)|Acute lymphoblastic leukemia(118;0.155) BRCA - Breast invasive adenocarcinoma(115;0.0517) TCCATTCTCTCTCTTCCCCAA 0.483000 HNSCC(7;0.00092) 21 86 0 0 1 0 0 ZFHX3 463 broad.mit.edu 37 16 72831514 72831514 + Silent SNP C C T TCGA-CN-A63Y-01A-11D-A30E-08 TCGA-CN-A63Y-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1573766d-cd60-4498-bdad-dcb8d6bc88c8 8582b1ee-b97e-42ab-be9f-5d3899704723 g.chr16:72831514C>T ENST00000268489.5 - 9 5739 c.5067G>A c.(5065-5067)ggG>ggA p.G1689G ZFHX3_ENST00000397992.5_Silent_p.G775G NM_006885.3 NP_008816.3 Q15911 ZFHX3_HUMAN zinc finger homeobox 3 1689 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 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) GGGGTGGCATCCCTACACTCT 0.527000 17 104 0 0 1 0 0 PHF3 23469 broad.mit.edu 37 6 64416676 64416676 + Silent SNP C C T TCGA-CN-A63Y-01A-11D-A30E-08 TCGA-CN-A63Y-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1573766d-cd60-4498-bdad-dcb8d6bc88c8 8582b1ee-b97e-42ab-be9f-5d3899704723 g.chr6:64416676C>T ENST00000262043.3 + 13 3961 c.3621C>T c.(3619-3621)ttC>ttT p.F1207F PHF3_ENST00000393387.1_Silent_p.F1207F Q92576 PHF3_HUMAN PHD finger protein 3 1207 multicellular organismal development|transcription, DNA-dependent nucleus zinc ion binding breast(7)|cervix(2)|endometrium(8)|kidney(7)|large_intestine(18)|lung(21)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(6) 75 all_cancers(3;0.0241)|all_epithelial(2;0.00306)|Lung NSC(77;0.121) LUSC - Lung squamous cell carcinoma(74;0.0644)|Lung(124;0.148) GATTGAACTTCATCTGGAAAG 0.413000 14 57 0 0 1 0 0 KMT2C 58508 broad.mit.edu 37 7 151845932 151845932 + Nonsense_Mutation SNP C C T TCGA-CN-A63Y-01A-11D-A30E-08 TCGA-CN-A63Y-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1573766d-cd60-4498-bdad-dcb8d6bc88c8 8582b1ee-b97e-42ab-be9f-5d3899704723 g.chr7:151845932C>T ENST00000355193.2 - 53 13469 c.13251G>A c.(13249-13251)tgG>tgA p.W4417* KMT2C_ENST00000262189.6_Nonsense_Mutation_p.W4360* lysine (K)-specific methyltransferase 2C p.W4360*(1)|p.W4417*(1) TATGAATGCTCCACTTCTTCC 0.423000 11 41 0 0 1 0 0 MAPK1 5594 broad.mit.edu 37 22 22127164 22127164 + Missense_Mutation SNP C C T TCGA-CN-A63Y-01A-11D-A30E-08 TCGA-CN-A63Y-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1573766d-cd60-4498-bdad-dcb8d6bc88c8 8582b1ee-b97e-42ab-be9f-5d3899704723 g.chr22:22127164C>T ENST00000215832.6 - 7 1152 c.964G>A c.(964-966)Gag>Aag p.E322K MAPK1_ENST00000398822.3_Missense_Mutation_p.E322K|MAPK1_ENST00000544786.1_Missense_Mutation_p.E278K NM_002745.4 NP_002736.3 P28482 MK01_HUMAN mitogen-activated protein kinase 1 322 activation of MAPK activity|activation of MAPKK activity|axon guidance|cell cycle|epidermal growth factor receptor signaling pathway|ERK1 and ERK2 cascade|induction of apoptosis|innate immune response|insulin receptor signaling pathway|interspecies interaction between organisms|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|nerve growth factor receptor signaling pathway|platelet activation|Ras protein signal transduction|regulation of sequence-specific DNA binding transcription factor activity|stress-activated MAPK cascade|synaptic transmission|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|transcription, DNA-dependent cytosol|nucleoplasm ATP binding|DNA binding|MAP kinase activity|phosphatase binding|RNA polymerase II carboxy-terminal domain kinase activity p.E322K(1) NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(2)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 17 Colorectal(54;0.105) all_lung(157;3.89e-05) READ - Rectum adenocarcinoma(21;0.0689) Arsenic trioxide(DB01169) GCTCTTACCTCGTCACTCGGG 0.478000 14 61 0 0 1 0 0 NXPH1 30010 broad.mit.edu 37 7 8791145 8791145 + Missense_Mutation SNP G G A TCGA-CN-A63Y-01A-11D-A30E-08 TCGA-CN-A63Y-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1573766d-cd60-4498-bdad-dcb8d6bc88c8 8582b1ee-b97e-42ab-be9f-5d3899704723 g.chr7:8791145G>A ENST00000405863.1 + 3 1473 c.562G>A c.(562-564)Gat>Aat p.D188N NXPH1_ENST00000497400.1_3'UTR|NXPH1_ENST00000602349.1_Missense_Mutation_p.D71N NM_152745.2 NP_689958.1 P58417 NXPH1_HUMAN neurexophilin 1 188 V (Cys-rich). extracellular region p.D188Y(1) breast(2)|central_nervous_system(1)|endometrium(2)|large_intestine(4)|lung(7)|ovary(1) 17 Ovarian(82;0.0628) UCEC - Uterine corpus endometrioid carcinoma (126;0.101) TGATGCCAAAGATTCCAAGTC 0.413000 6 32 0 0 1 0 0 MLLT3 4300 broad.mit.edu 37 9 20414340 20414340 + Silent SNP G G A TCGA-CN-A63Y-01A-11D-A30E-08 TCGA-CN-A63Y-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1573766d-cd60-4498-bdad-dcb8d6bc88c8 8582b1ee-b97e-42ab-be9f-5d3899704723 g.chr9:20414340G>A ENST00000380338.4 - 5 790 c.504C>T c.(502-504)agC>agT p.S168S MLLT3_ENST00000429426.2_Silent_p.S165S|MLLT3_ENST00000355930.6_5'UTR|MLLT3_ENST00000475957.1_5'UTR NM_004529.2 NP_004520.2 P42568 AF9_HUMAN myeloid/lymphoid or mixed-lineage leukemia (trithorax homolog, Drosophila); translocated to, 3 168 Poly-Ser. regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus protein binding p.S168S(5) central_nervous_system(1)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(6)|lung(24)|ovary(1)|prostate(4)|skin(1)|urinary_tract(7) 66 GBM - Glioblastoma multiforme(3;4.35e-105)|Lung(42;3.48e-06)|LUSC - Lung squamous cell carcinoma(42;7.92e-05) tgctgctgctgctactgctgc 0.537000 T MLL ALL 5 73 0 0 1 0 0 LOC148709 148709 broad.mit.edu 37 1 202842517 202842517 + RNA SNP C C T TCGA-CN-A63Y-01A-11D-A30E-08 TCGA-CN-A63Y-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1573766d-cd60-4498-bdad-dcb8d6bc88c8 8582b1ee-b97e-42ab-be9f-5d3899704723 g.chr1:202842517C>T ENST00000456105.2 + 0 469 NR_002929.2 ATGTTCCCCTCCATCACTGGG 0.552000 4 12 0 0 1 0 0 PRRG1 5638 broad.mit.edu 37 X 37285149 37285149 + Missense_Mutation SNP G G C TCGA-CN-A63Y-01A-11D-A30E-08 TCGA-CN-A63Y-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1573766d-cd60-4498-bdad-dcb8d6bc88c8 8582b1ee-b97e-42ab-be9f-5d3899704723 g.chrX:37285149G>C ENST00000542554.1 + 4 339 c.67G>C c.(67-69)Ggg>Cgg p.G23R PRRG1_ENST00000543642.1_Missense_Mutation_p.G23R|PRRG1_ENST00000463135.1_Missense_Mutation_p.G23R|PRRG1_ENST00000449135.2_Missense_Mutation_p.G23R|TM4SF2_ENST00000465127.1_Missense_Mutation_p.G23R|PRRG1_ENST00000491253.1_Intron|PRRG1_ENST00000378628.4_Missense_Mutation_p.G23R NM_001173489.1 NP_001166960.1 O14668 TMG1_HUMAN proline rich Gla (G-carboxyglutamic acid) 1 23 Gla. extracellular region|integral to plasma membrane calcium ion binding breast(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(4)|ovary(3)|prostate(1)|upper_aerodigestive_tract(1) 15 AAGAGCTAATGGGTTTTTTGA 0.338000 14 13 0 0 1 0 0 STXBP5L 9515 broad.mit.edu 37 3 120760566 120760566 + Missense_Mutation SNP G G A TCGA-CN-A63Y-01A-11D-A30E-08 TCGA-CN-A63Y-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1573766d-cd60-4498-bdad-dcb8d6bc88c8 8582b1ee-b97e-42ab-be9f-5d3899704723 g.chr3:120760566G>A ENST00000273666.6 + 4 578 c.307G>A c.(307-309)Gat>Aat p.D103N STXBP5L_ENST00000472879.1_Missense_Mutation_p.D103N|STXBP5L_ENST00000492541.1_Missense_Mutation_p.D103N|STXBP5L_ENST00000471454.1_Missense_Mutation_p.D103N|STXBP5L_ENST00000497029.1_Missense_Mutation_p.D103N NM_014980.2 NP_055795.1 Q9Y2K9 STB5L_HUMAN syntaxin binding protein 5-like 103 exocytosis|protein transport cytoplasm|integral to membrane|plasma membrane NS(1)|breast(3)|endometrium(3)|kidney(3)|large_intestine(12)|lung(28)|ovary(7)|prostate(3)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(1) 68 GBM - Glioblastoma multiforme(114;0.0694) ACCTGGTGTTGATTGCTATTG 0.348000 9 54 0 0 1 0 0 WDFY3 23001 broad.mit.edu 37 4 85717800 85717800 + Missense_Mutation SNP C C T TCGA-CN-A63Y-01A-11D-A30E-08 TCGA-CN-A63Y-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1573766d-cd60-4498-bdad-dcb8d6bc88c8 8582b1ee-b97e-42ab-be9f-5d3899704723 g.chr4:85717800C>T ENST00000322366.6 - 19 3448 c.3041G>A c.(3040-3042)gGa>gAa p.G1014E WDFY3_ENST00000295888.4_Missense_Mutation_p.G1014E Q8IZQ1 WDFY3_HUMAN WD repeat and FYVE domain containing 3 1014 cytoplasmic part|extrinsic to membrane|nuclear envelope 1-phosphatidylinositol binding|metal ion binding|protein binding breast(5)|central_nervous_system(5)|endometrium(15)|haematopoietic_and_lymphoid_tissue(3)|kidney(8)|large_intestine(32)|lung(50)|ovary(3)|prostate(5)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(2) 134 Hepatocellular(203;0.114) OV - Ovarian serous cystadenocarcinoma(123;0.000808) TACAGTACTTCCTTCCGCAGA 0.448000 18 82 0 0 1 0 0 CATSPER2P1 440278 broad.mit.edu 37 15 44036355 44036355 + RNA SNP C C T TCGA-CN-A63Y-01A-11D-A30E-08 TCGA-CN-A63Y-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1573766d-cd60-4498-bdad-dcb8d6bc88c8 8582b1ee-b97e-42ab-be9f-5d3899704723 g.chr15:44036355C>T ENST00000381680.2 - 0 578 NR_002318.2 TCACGTATTTCAACCATCAGT 0.473000 3 20 0 0 1 0 0 AMFR 267 broad.mit.edu 37 16 56401439 56401439 + Splice_Site SNP G G A TCGA-CN-A63Y-01A-11D-A30E-08 TCGA-CN-A63Y-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1573766d-cd60-4498-bdad-dcb8d6bc88c8 8582b1ee-b97e-42ab-be9f-5d3899704723 g.chr16:56401439G>A ENST00000290649.5 - 12 1726 c.1515_splice c.e12-1 p.R506_splice NM_001144.5 NP_001135.3 Q9UKV5 AMFR2_HUMAN autocrine motility factor receptor, E3 ubiquitin protein ligase 506 endoplasmic reticulum unfolded protein response|ER-associated protein catabolic process|protein oligomerization|protein polyubiquitination integral to endoplasmic reticulum membrane|integral to membrane of membrane fraction protein binding|receptor activity|ubiquitin-protein ligase activity|zinc ion binding NS(1)|breast(2)|endometrium(1)|kidney(1)|large_intestine(4)|lung(6)|skin(1)|upper_aerodigestive_tract(1) 17 CTATCTGACCGCTGGAAGAGA 0.493000 5 307 0 0 1 0 0 MYO9A 4649 broad.mit.edu 37 15 72338247 72338247 + Missense_Mutation SNP C C A TCGA-CN-A63Y-01A-11D-A30E-08 TCGA-CN-A63Y-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1573766d-cd60-4498-bdad-dcb8d6bc88c8 8582b1ee-b97e-42ab-be9f-5d3899704723 g.chr15:72338247C>A ENST00000356056.5 - 2 1130 c.658G>T c.(658-660)Gat>Tat p.D220Y MYO9A_ENST00000563542.1_5'UTR|MYO9A_ENST00000444904.1_Missense_Mutation_p.D220Y|MYO9A_ENST00000566885.1_Intron|MYO9A_ENST00000564571.1_Missense_Mutation_p.D220Y|MYO9A_ENST00000424560.1_Missense_Mutation_p.D220Y NM_006901.3 NP_008832.2 B2RTY4 MYO9A_HUMAN myosin IXA 220 Myosin head-like 1. 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 TAAGCTACATCAGCCACAGCA 0.403000 22 59 7.41877e-09 7.6012e-09 1 1 0 COL6A6 131873 broad.mit.edu 37 3 130300675 130300675 + Missense_Mutation SNP C C A TCGA-CN-A63Y-01A-11D-A30E-08 TCGA-CN-A63Y-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1573766d-cd60-4498-bdad-dcb8d6bc88c8 8582b1ee-b97e-42ab-be9f-5d3899704723 g.chr3:130300675C>A ENST00000358511.6 + 8 3849 c.3818C>A c.(3817-3819)cCa>cAa p.P1273Q COL6A6_ENST00000453409.2_Missense_Mutation_p.P1273Q NM_001102608.1 NP_001096078.1 A6NMZ7 CO6A6_HUMAN collagen, type VI, alpha 6 1273 Nonhelical region.|VWFA 7. axon guidance|cell adhesion collagen NS(2)|breast(5)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(30)|lung(57)|ovary(8)|pancreas(1)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(2) 134 GTTAAAGGACCATCTCTTCTC 0.368000 48 193 1.63038e-21 1.71258e-21 1 1 0 AC005609.1 0 broad.mit.edu 37 5 140242608 140242608 + Missense_Mutation SNP G G A TCGA-CN-A63Y-01A-11D-A30E-08 TCGA-CN-A63Y-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1573766d-cd60-4498-bdad-dcb8d6bc88c8 8582b1ee-b97e-42ab-be9f-5d3899704723 g.chr5:140242608G>A ENST00000502505.1 - 1 616 c.368C>T c.(367-369)gCg>gTg p.A123V PCDHA1_ENST00000504120.2_Intron|PCDHA5_ENST00000529859.1_Intron|PCDHA7_ENST00000525929.1_Intron|PCDHA8_ENST00000531613.1_Intron|PCDHA10_ENST00000307360.5_Intron|PCDHA1_ENST00000394633.3_Intron|PCDHA2_ENST00000526136.1_Intron|PCDHA9_ENST00000532602.1_Intron|PCDHA3_ENST00000522353.2_Intron|PCDHA6_ENST00000527624.1_Intron|PCDHA4_ENST00000530339.1_Intron|PCDHA10_ENST00000506939.2_Intron|PCDHA6_ENST00000529310.1_Intron|PCDHA5_ENST00000529619.1_Intron|PCDHA4_ENST00000512229.2_Intron CCTGGTTGTCGCAACAGCTGC 0.637000 9 36 0 0 1 0 0 EPHB4 2050 broad.mit.edu 37 7 100421502 100421502 + Missense_Mutation SNP C C T TCGA-CN-A63Y-01A-11D-A30E-08 TCGA-CN-A63Y-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1573766d-cd60-4498-bdad-dcb8d6bc88c8 8582b1ee-b97e-42ab-be9f-5d3899704723 g.chr7:100421502C>T ENST00000358173.3 - 3 643 c.175G>A c.(175-177)Gaa>Aaa p.E59K EPHB4_ENST00000360620.3_Missense_Mutation_p.E59K|EPHB4_ENST00000477446.1_5'UTR NM_004444.4 NP_004435.3 P54760 EPHB4_HUMAN EPH receptor B4 59 cell proliferation|organ morphogenesis|regulation of angiogenesis cell surface|integral to plasma membrane ATP binding|ephrin receptor activity breast(1)|central_nervous_system(2)|endometrium(3)|kidney(3)|large_intestine(7)|lung(20)|ovary(3)|prostate(2)|skin(3)|stomach(3) 47 Lung NSC(181;0.041)|all_lung(186;0.0581) TCACACACTTCGTAGGTGCGC 0.682000 8 23 0 0 1 0 0 STEAP2 261729 broad.mit.edu 37 7 89856755 89856755 + Silent SNP C C G TCGA-CN-A63Y-01A-11D-A30E-08 TCGA-CN-A63Y-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1573766d-cd60-4498-bdad-dcb8d6bc88c8 8582b1ee-b97e-42ab-be9f-5d3899704723 g.chr7:89856755C>G ENST00000287908.3 + 3 1356 c.963C>G c.(961-963)ctC>ctG p.L321L STEAP2_ENST00000394622.2_Silent_p.L321L|STEAP2_ENST00000394621.2_Silent_p.L321L|STEAP2_ENST00000394629.2_Silent_p.L321L|STEAP2_ENST00000402625.2_Silent_p.L321L|STEAP2_ENST00000394632.1_Silent_p.L321L|STEAP2_ENST00000394626.1_Silent_p.L321L NM_001244944.1|NM_152999.3 NP_001231873.1|NP_694544.2 Q8NFT2 STEA2_HUMAN STEAP family member 2, metalloreductase 321 Ferric oxidoreductase. electron transport chain|endocytosis|Golgi to plasma membrane transport|ion transport|iron ion homeostasis|regulated secretory pathway|response to hormone stimulus cytosol|early endosome|endosome membrane|integral to Golgi membrane|plasma membrane|trans-Golgi network transport vesicle|vesicular fraction electron carrier activity|flavin adenine dinucleotide binding|iron ion binding|oxidoreductase activity|transporter activity endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(2)|lung(5)|ovary(2)|prostate(1)|skin(1) 15 all_hematologic(106;0.112) CCTACAGCCTCTGCTTACCGA 0.398000 14 38 0 0 1 0 0 HOXA13 3209 broad.mit.edu 37 7 27237897 27237897 + Missense_Mutation SNP C C T TCGA-CN-A63Y-01A-11D-A30E-08 TCGA-CN-A63Y-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1573766d-cd60-4498-bdad-dcb8d6bc88c8 8582b1ee-b97e-42ab-be9f-5d3899704723 g.chr7:27237897C>T ENST00000222753.4 - 2 1115 c.1087G>A c.(1087-1089)Gag>Aag p.E363K NM_000522.4 NP_000513.2 P31271 HXA13_HUMAN homeobox A13 363 skeletal system development nucleus sequence-specific DNA binding breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(1)|lung(2) 6 ACCTGCCGCTCAGAGAGATTC 0.413000 T NUP98 AML 62 211 0 0 1 0 0 GPR111 222611 broad.mit.edu 37 6 47649593 47649593 + Missense_Mutation SNP C C T TCGA-CN-A63Y-01A-11D-A30E-08 TCGA-CN-A63Y-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1573766d-cd60-4498-bdad-dcb8d6bc88c8 8582b1ee-b97e-42ab-be9f-5d3899704723 g.chr6:47649593C>T ENST00000398742.2 + 5 1143 c.1094C>T c.(1093-1095)tCa>tTa p.S365L GPR111_ENST00000507065.1_Missense_Mutation_p.S365L|GPR111_ENST00000296862.1_Missense_Mutation_p.S433L Q8IZF7 GP111_HUMAN G protein-coupled receptor 111 433 neuropeptide signaling pathway integral to membrane|plasma membrane G-protein coupled receptor activity NS(1)|breast(1)|endometrium(1)|kidney(1)|large_intestine(2)|liver(2)|lung(15)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 29 ACCTCTTTCTCAATTCTTATG 0.438000 14 101 0 0 1 0 0 OR10J1 26476 broad.mit.edu 37 1 159410358 159410358 + Silent SNP C C G TCGA-CN-A63Y-01A-11D-A30E-08 TCGA-CN-A63Y-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1573766d-cd60-4498-bdad-dcb8d6bc88c8 8582b1ee-b97e-42ab-be9f-5d3899704723 g.chr1:159410358C>G ENST00000423932.3 + 1 847 c.810C>G c.(808-810)ctC>ctG p.L270L RP11-550P17.5_ENST00000431862.1_RNA NM_012351.2 NP_036483.2 P30954 O10J1_HUMAN olfactory receptor, family 10, subfamily J, member 1 270 sensory perception of smell|single fertilization integral to plasma membrane olfactory receptor activity endometrium(2)|kidney(1)|large_intestine(5)|lung(13)|ovary(1)|skin(2)|stomach(1) 25 all_hematologic(112;0.0429) TTGCCTACCTCAAGCCCAAGT 0.527000 8 120 0 0 1 0 0 RERGL 79785 broad.mit.edu 37 12 18234143 18234143 + Missense_Mutation SNP C C G TCGA-CN-A63Y-01A-11D-A30E-08 TCGA-CN-A63Y-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1573766d-cd60-4498-bdad-dcb8d6bc88c8 8582b1ee-b97e-42ab-be9f-5d3899704723 g.chr12:18234143C>G ENST00000229002.2 - 6 806 c.600G>C c.(598-600)aaG>aaC p.K200N RERGL_ENST00000538724.1_Missense_Mutation_p.K199N NM_024730.2 NP_079006.1 Q9H628 RERGL_HUMAN RERG/RAS-like 200 Small GTPase-like. signal transduction membrane GTP binding|GTPase activity endometrium(1)|large_intestine(5)|lung(8)|prostate(1)|skin(1)|urinary_tract(1) 17 ATTTCCTTCTCTTTCCAAATA 0.338000 13 21 0 0 1 0 0 NAPG 8774 broad.mit.edu 37 18 10539865 10539865 + Missense_Mutation SNP G G A TCGA-CN-A63Y-01A-11D-A30E-08 TCGA-CN-A63Y-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1573766d-cd60-4498-bdad-dcb8d6bc88c8 8582b1ee-b97e-42ab-be9f-5d3899704723 g.chr18:10539865G>A ENST00000322897.6 + 6 434 c.365G>A c.(364-366)gGa>gAa p.G122E NAPG_ENST00000542979.1_Missense_Mutation_p.G40E NM_003826.2 NP_003817.1 Q99747 SNAG_HUMAN N-ethylmaleimide-sensitive factor attachment protein, gamma 122 cellular membrane fusion|intra-Golgi vesicle-mediated transport|intracellular protein transport|protein complex assembly|protein stabilization membrane|membrane fraction|mitochondrion protein binding large_intestine(2)|lung(2) 4 GAGCGAGCTGGAAAGTGAGTG 0.443000 12 49 0 0 1 0 0 NKD2 85409 broad.mit.edu 37 5 1037993 1037993 + Missense_Mutation SNP G G C TCGA-CN-A63Y-01A-11D-A30E-08 TCGA-CN-A63Y-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1573766d-cd60-4498-bdad-dcb8d6bc88c8 8582b1ee-b97e-42ab-be9f-5d3899704723 g.chr5:1037993G>C ENST00000296849.5 + 10 1090 c.861G>C c.(859-861)caG>caC p.Q287H NKD2_ENST00000274150.4_3'UTR|NKD2_ENST00000382730.2_Intron NM_033120.2 NP_149111.1 Q969F2 NKD2_HUMAN naked cuticle homolog 2 (Drosophila) 287 exocytosis|Wnt receptor signaling pathway cytoplasmic membrane-bounded vesicle|plasma membrane calcium ion binding|ubiquitin protein ligase binding breast(1)|central_nervous_system(3)|large_intestine(1)|lung(8)|pancreas(1) 14 Lung NSC(6;2.47e-13)|all_lung(6;1.67e-12)|all_epithelial(6;3.28e-09) Epithelial(17;0.00093)|OV - Ovarian serous cystadenocarcinoma(19;0.00239)|all cancers(22;0.00417)|Lung(60;0.165) CCCGCTCCCAGGAGCCAGATA 0.687000 5 22 0 0 1 0 0 GPR17 2840 broad.mit.edu 37 2 128408991 128408991 + Missense_Mutation SNP C C T TCGA-CN-A63Y-01A-11D-A30E-08 TCGA-CN-A63Y-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1573766d-cd60-4498-bdad-dcb8d6bc88c8 8582b1ee-b97e-42ab-be9f-5d3899704723 g.chr2:128408991C>T ENST00000544369.1 + 4 1377 c.766C>T c.(766-768)Cgc>Tgc p.R256C LIMS2_ENST00000355119.4_Intron|GPR17_ENST00000486700.1_3'UTR|LIMS2_ENST00000324938.5_Intron|GPR17_ENST00000272644.3_Missense_Mutation_p.R256C|LIMS2_ENST00000410011.1_Intron|LIMS2_ENST00000545738.2_Intron|GPR17_ENST00000393018.3_Missense_Mutation_p.R256C|LIMS2_ENST00000409808.2_Intron|LIMS2_ENST00000409455.1_Intron NM_001161415.1 NP_001154887.1 Q13304 GPR17_HUMAN G protein-coupled receptor 17 256 integral to plasma membrane chemokine receptor activity|purinergic nucleotide receptor activity, G-protein coupled endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(11)|prostate(2)|urinary_tract(1) 19 Colorectal(110;0.1) Ovarian(717;0.15) BRCA - Breast invasive adenocarcinoma(221;0.0677) TGTGGAGAAGCGCCTCAAGAC 0.622000 4 102 0 0 1 0 0 HHAT 55733 broad.mit.edu 37 1 210796934 210796934 + Missense_Mutation SNP C C T rs113371678 TCGA-CN-A63Y-01A-11D-A30E-08 TCGA-CN-A63Y-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1573766d-cd60-4498-bdad-dcb8d6bc88c8 8582b1ee-b97e-42ab-be9f-5d3899704723 g.chr1:210796934C>T ENST00000367010.1 + 11 1537 c.1310C>T c.(1309-1311)tCg>tTg p.S437L HHAT_ENST00000391905.3_Missense_Mutation_p.S437L|HHAT_ENST00000541565.1_Missense_Mutation_p.S300L|HHAT_ENST00000261458.3_Missense_Mutation_p.S437L|HHAT_ENST00000537898.1_Missense_Mutation_p.S372L|HHAT_ENST00000308852.6_Missense_Mutation_p.S392L|HHAT_ENST00000545781.1_Missense_Mutation_p.S374L|HHAT_ENST00000545154.1_Missense_Mutation_p.S438L|HHAT_ENST00000367009.1_Missense_Mutation_p.S127L|HHAT_ENST00000413764.2_Missense_Mutation_p.S437L NM_001170580.1 NP_001164051.1 Q5VTY9 HHAT_HUMAN hedgehog acyltransferase 437 multicellular organismal development endoplasmic reticulum membrane|integral to membrane GTP binding breast(3)|central_nervous_system(1)|kidney(1)|large_intestine(6)|lung(8)|ovary(2)|prostate(1)|skin(1)|stomach(3)|upper_aerodigestive_tract(1) 27 OV - Ovarian serous cystadenocarcinoma(81;0.0136)|all cancers(67;0.161)|KIRC - Kidney renal clear cell carcinoma(1967;0.215) TGTTCCACCTCGATGCTGATC 0.498000 71 293 0 0 1 0 0 SPINT2 10653 broad.mit.edu 37 19 38782595 38782595 + Missense_Mutation SNP G G T TCGA-CN-A63Y-01A-11D-A30E-08 TCGA-CN-A63Y-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1573766d-cd60-4498-bdad-dcb8d6bc88c8 8582b1ee-b97e-42ab-be9f-5d3899704723 g.chr19:38782595G>T ENST00000301244.7 + 7 1143 c.708G>T c.(706-708)tgG>tgT p.W236C SPINT2_ENST00000454580.3_Missense_Mutation_p.W179C|CTB-102L5.4_ENST00000591889.1_Intron|SPINT2_ENST00000587090.1_Missense_Mutation_p.W186C NM_021102.3 NP_066925.1 O43291 SPIT2_HUMAN serine peptidase inhibitor, Kunitz type, 2 236 cellular component movement cytoplasm|extracellular region|integral to membrane|soluble fraction serine-type endopeptidase inhibitor activity large_intestine(2)|lung(1)|ovary(1) 4 all_cancers(60;6.83e-07) Lung(45;0.000246)|LUSC - Lung squamous cell carcinoma(53;0.000292) GCACCGTCTGGAGCTCCGGAG 0.602000 10 27 3.07112e-06 3.13379e-06 1 1 0 NBPF1 55672 broad.mit.edu 37 1 16902903 16902903 + Missense_Mutation SNP C C G TCGA-CN-A63Y-01A-11D-A30E-08 TCGA-CN-A63Y-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1573766d-cd60-4498-bdad-dcb8d6bc88c8 8582b1ee-b97e-42ab-be9f-5d3899704723 g.chr1:16902903C>G ENST00000430580.2 - 19 2865 c.1978G>C c.(1978-1980)Gat>Cat p.D660H NBPF1_ENST00000432949.1_Missense_Mutation_p.D118H|NBPF1_ENST00000287968.8_Missense_Mutation_p.D25H NM_017940.3 NP_060410.2 Q3BBV0 NBPF1_HUMAN neuroblastoma breakpoint family, member 1 660 cytoplasm UCEC - Uterine corpus endometrioid carcinoma (279;0.00459)|BRCA - Breast invasive adenocarcinoma(304;7.52e-06)|COAD - Colon adenocarcinoma(227;1.05e-05)|Kidney(64;0.00016)|KIRC - Kidney renal clear cell carcinoma(64;0.00258)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.179) CAGGAGGCATCTCTCCCTTCC 0.532000 11 398 0 0 1 0 0 PCDHA1 56147 broad.mit.edu 37 5 140167659 140167659 + Missense_Mutation SNP G G A TCGA-CN-A63Y-01A-11D-A30E-08 TCGA-CN-A63Y-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1573766d-cd60-4498-bdad-dcb8d6bc88c8 8582b1ee-b97e-42ab-be9f-5d3899704723 g.chr5:140167659G>A ENST00000504120.2 + 1 1784 c.1784G>A c.(1783-1785)cGc>cAc p.R595H PCDHA1_ENST00000394633.3_Intron|PCDHA1_ENST00000378133.3_Missense_Mutation_p.R595H NM_018900.2 NP_061723.1 breast(3)|endometrium(3)|kidney(2)|large_intestine(13)|lung(34)|prostate(3)|skin(4)|upper_aerodigestive_tract(5)|urinary_tract(3) 70 KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191) GCGAAGGTGCGCGCAGTGGAC 0.692000 33 140 0 0 1 0 0 HTR3C 170572 broad.mit.edu 37 3 183778026 183778026 + Silent SNP G G A TCGA-CN-A63Y-01A-11D-A30E-08 TCGA-CN-A63Y-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1573766d-cd60-4498-bdad-dcb8d6bc88c8 8582b1ee-b97e-42ab-be9f-5d3899704723 g.chr3:183778026G>A ENST00000318351.1 + 9 1264 c.1230G>A c.(1228-1230)caG>caA p.Q410Q NM_130770.2 NP_570126.2 Q8WXA8 5HT3C_HUMAN 5-hydroxytryptamine (serotonin) receptor 3C, ionotropic 410 integral to membrane|plasma membrane|postsynaptic membrane extracellular ligand-gated ion channel activity|receptor activity central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(6)|lung(14)|ovary(1)|prostate(1)|skin(2)|stomach(2) 32 all_cancers(143;2.33e-10)|Ovarian(172;0.0303) Epithelial(37;1.74e-35)|OV - Ovarian serous cystadenocarcinoma(80;3.11e-22) CAAAGACCCAGCTAATGGAGC 0.597000 39 121 0 0 1 0 0 TUBGCP6 85378 broad.mit.edu 37 22 50662572 50662572 + Silent SNP C C T TCGA-CN-A63Y-01A-11D-A30E-08 TCGA-CN-A63Y-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1573766d-cd60-4498-bdad-dcb8d6bc88c8 8582b1ee-b97e-42ab-be9f-5d3899704723 g.chr22:50662572C>T ENST00000439308.2 - 13 2760 c.2268G>A c.(2266-2268)gcG>gcA p.A756A TUBGCP6_ENST00000491449.1_5'UTR|TUBGCP6_ENST00000248846.5_Silent_p.A756A NM_020461.3 NP_065194.2 Q96RT7 GCP6_HUMAN tubulin, gamma complex associated protein 6 756 G2/M transition of mitotic cell cycle|microtubule nucleation centrosome|cytosol|gamma-tubulin ring complex|microtubule|spindle pole microtubule binding breast(4)|central_nervous_system(2)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(4)|lung(13)|ovary(3)|prostate(2)|skin(2) 45 all_cancers(38;5.79e-13)|all_epithelial(38;1.71e-11)|all_lung(38;3.89e-05)|Breast(42;0.000523)|Lung NSC(38;0.000992)|Ovarian(80;0.0221)|Hepatocellular(38;0.0691)|Lung SC(80;0.113) LUAD - Lung adenocarcinoma(64;0.109)|BRCA - Breast invasive adenocarcinoma(115;0.21) TGCCCTACCTCGCCTTCCTCT 0.577000 9 44 0 0 1 0 0 TRIM36 55521 broad.mit.edu 37 5 114499269 114499269 + Nonsense_Mutation SNP G G A TCGA-CN-A63Y-01A-11D-A30E-08 TCGA-CN-A63Y-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1573766d-cd60-4498-bdad-dcb8d6bc88c8 8582b1ee-b97e-42ab-be9f-5d3899704723 g.chr5:114499269G>A ENST00000513154.1 - 2 534 c.208C>T c.(208-210)Cga>Tga p.R70* TRIM36_ENST00000282369.3_Nonsense_Mutation_p.R82*|TRIM36_ENST00000515104.1_5'UTR|TRIM36_ENST00000514154.1_Intron Q9NQ86 TRI36_HUMAN tripartite motif containing 36 82 acrosomal vesicle|cytoskeleton ligase activity|zinc ion binding breast(3)|endometrium(1)|kidney(2)|large_intestine(4)|lung(15)|ovary(4)|prostate(1)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(2) 37 all_cancers(142;0.00133)|all_epithelial(76;2.41e-05)|Prostate(80;0.00955)|Ovarian(225;0.0443)|Breast(839;0.195) OV - Ovarian serous cystadenocarcinoma(64;3.62e-08)|Epithelial(69;7.69e-08)|all cancers(49;9.33e-06) AGCCGAAGTCGAGGACTGCTT 0.453000 17 72 0 0 1 0 0 DUSP19 142679 broad.mit.edu 37 2 183960311 183960311 + Silent SNP C C T TCGA-CN-A63Y-01A-11D-A30E-08 TCGA-CN-A63Y-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1573766d-cd60-4498-bdad-dcb8d6bc88c8 8582b1ee-b97e-42ab-be9f-5d3899704723 g.chr2:183960311C>T ENST00000354221.4 + 4 754 c.579C>T c.(577-579)ttC>ttT p.F193F DUSP19_ENST00000469344.1_3'UTR|AC064871.3_ENST00000444562.1_RNA|AC064871.3_ENST00000413954.1_RNA|DUSP19_ENST00000342619.6_Silent_p.F142F NM_080876.3 NP_543152.1 Q8WTR2 DUS19_HUMAN dual specificity phosphatase 19 193 Tyrosine-protein phosphatase. JNK cascade|negative regulation of JNK cascade|negative regulation of JUN kinase activity|positive regulation of JNK cascade|positive regulation of JUN kinase activity cytoplasm JUN kinase phosphatase activity|MAP-kinase scaffold activity|mitogen-activated protein kinase kinase kinase binding|protein kinase activator activity|protein kinase inhibitor activity|protein tyrosine phosphatase activity breast(1)|kidney(2)|large_intestine(3)|lung(6)|ovary(4)|pancreas(1) 17 ATTCTGGCTTCATGGAGCAGC 0.393000 18 85 0 0 1 0 0 LRRN1 57633 broad.mit.edu 37 3 3886722 3886722 + Missense_Mutation SNP G G A TCGA-CN-A63Y-01A-11D-A30E-08 TCGA-CN-A63Y-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1573766d-cd60-4498-bdad-dcb8d6bc88c8 8582b1ee-b97e-42ab-be9f-5d3899704723 g.chr3:3886722G>A ENST00000319331.3 + 2 1158 c.397G>A c.(397-399)Gag>Aag p.E133K SUMF1_ENST00000534863.1_Intron NM_020873.5 NP_065924.3 Q6UXK5 LRRN1_HUMAN leucine rich repeat neuronal 1 133 integral to membrane NS(2)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(6)|lung(9)|prostate(1)|skin(1)|urinary_tract(2) 26 Epithelial(13;0.000886)|all cancers(10;0.0032)|OV - Ovarian serous cystadenocarcinoma(96;0.00608)|STAD - Stomach adenocarcinoma(44;0.0617) TCAGATTACCGAGATGACTGA 0.428000 8 65 0 0 1 0 0 ZNF43 7594 broad.mit.edu 37 19 21991719 21991719 + Missense_Mutation SNP C C T TCGA-CN-A63Y-01A-11D-A30E-08 TCGA-CN-A63Y-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1573766d-cd60-4498-bdad-dcb8d6bc88c8 8582b1ee-b97e-42ab-be9f-5d3899704723 g.chr19:21991719C>T ENST00000594012.1 - 7 1616 c.1102G>A c.(1102-1104)Gaa>Aaa p.E368K ZNF43_ENST00000598381.1_Missense_Mutation_p.E368K|ZNF43_ENST00000595461.1_Missense_Mutation_p.E368K|ZNF43_ENST00000354959.4_Missense_Mutation_p.E374K NM_001256649.1|NM_001256651.1|NM_001256653.1|NM_001256654.1 NP_001243578.1|NP_001243580.1|NP_001243582.1|NP_001243583.1 P17038 ZNF43_HUMAN zinc finger protein 43 374 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding autonomic_ganglia(1)|breast(2)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(14)|liver(1)|lung(16)|ovary(2)|prostate(3)|stomach(3)|upper_aerodigestive_tract(2) 51 Renal(1328;0.000219)|Hepatocellular(1079;0.121) GBM - Glioblastoma multiforme(1328;5.97e-05)|STAD - Stomach adenocarcinoma(1328;0.0127) TCACCACATTCTGTACATTTA 0.368000 13 67 0 0 1 0 0 NADK 65220 broad.mit.edu 37 1 1686840 1686840 + Nonsense_Mutation SNP G G A TCGA-CN-A63Y-01A-11D-A30E-08 TCGA-CN-A63Y-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1573766d-cd60-4498-bdad-dcb8d6bc88c8 8582b1ee-b97e-42ab-be9f-5d3899704723 g.chr1:1686840G>A ENST00000344463.4 - 9 1317 c.1096C>T c.(1096-1098)Cag>Tag p.Q366* NADK_ENST00000341991.3_Nonsense_Mutation_p.Q221*|NADK_ENST00000378625.1_Nonsense_Mutation_p.Q366*|NADK_ENST00000341426.5_Nonsense_Mutation_p.Q221*|NADK_ENST00000342348.5_Nonsense_Mutation_p.Q189* O95544 NADK_HUMAN NAD kinase 221 ATP metabolic process|NAD metabolic process|water-soluble vitamin metabolic process cytosol ATP binding|metal ion binding|NAD+ kinase activity|protein binding NS(1)|autonomic_ganglia(1)|endometrium(4)|large_intestine(2)|lung(4)|ovary(1)|prostate(2)|stomach(1)|urinary_tract(1) 17 all_cancers(77;0.000708)|all_epithelial(69;0.000943)|all_lung(157;0.00963)|Lung NSC(156;0.0232)|Ovarian(185;0.0634) all_epithelial(116;5.61e-19)|all_lung(118;2.3e-08)|Lung NSC(185;2.38e-06)|Renal(390;0.00183)|Breast(487;0.00354)|Hepatocellular(190;0.00826)|Myeloproliferative disorder(586;0.0122)|Ovarian(437;0.0308)|Medulloblastoma(700;0.123)|Lung SC(97;0.128) Epithelial(90;8.75e-37)|OV - Ovarian serous cystadenocarcinoma(86;2.33e-23)|GBM - Glioblastoma multiforme(42;1.35e-07)|Colorectal(212;0.000203)|COAD - Colon adenocarcinoma(227;0.000225)|Kidney(185;0.00265)|STAD - Stomach adenocarcinoma(132;0.00655)|BRCA - Breast invasive adenocarcinoma(365;0.00855)|KIRC - Kidney renal clear cell carcinoma(229;0.0382)|Lung(427;0.207) ACTTGGGACTGAAAGTTCTCA 0.592000 60 197 0 0 1 0 0 FERD3L 222894 broad.mit.edu 37 7 19184632 19184632 + Silent SNP G G A TCGA-CN-A63Y-01A-11D-A30E-08 TCGA-CN-A63Y-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1573766d-cd60-4498-bdad-dcb8d6bc88c8 8582b1ee-b97e-42ab-be9f-5d3899704723 g.chr7:19184632G>A ENST00000275461.3 - 1 412 c.354C>T c.(352-354)aaC>aaT p.N118N AC003986.5_ENST00000452700.1_RNA NM_152898.2 NP_690862.1 Q96RJ6 FER3L_HUMAN Fer3-like bHLH transcription factor 118 Helix-loop-helix motif. negative regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding breast(1)|endometrium(4)|large_intestine(8)|lung(16)|ovary(1)|prostate(2)|skin(1)|urinary_tract(2) 35 CAAAGGCCTCGTTGAGGTTGA 0.592000 14 34 0 0 1 0 0 CDH4 1002 broad.mit.edu 37 20 60503417 60503417 + Silent SNP C C T TCGA-CN-A63Y-01A-11D-A30E-08 TCGA-CN-A63Y-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1573766d-cd60-4498-bdad-dcb8d6bc88c8 8582b1ee-b97e-42ab-be9f-5d3899704723 g.chr20:60503417C>T ENST00000360469.5 + 12 2029 c.1941C>T c.(1939-1941)taC>taT p.Y647Y CDH4_ENST00000543233.1_Silent_p.Y573Y NM_001794.3 NP_001785.2 P55283 CADH4_HUMAN cadherin 4, type 1, R-cadherin (retinal) 647 Cadherin 5. adherens junction organization|cell junction assembly calcium ion binding p.Y647Y(1) NS(2)|breast(2)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(17)|liver(2)|lung(25)|ovary(2)|prostate(1)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(1) 74 BRCA - Breast invasive adenocarcinoma(19;2.36e-08) TCGGCCCCTACGTCTTCGAGC 0.652000 29 148 0 0 1 0 0 PLEKHB2 55041 broad.mit.edu 37 2 131904248 131904248 + Nonsense_Mutation SNP C C T TCGA-CN-A63Y-01A-11D-A30E-08 TCGA-CN-A63Y-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1573766d-cd60-4498-bdad-dcb8d6bc88c8 8582b1ee-b97e-42ab-be9f-5d3899704723 g.chr2:131904248C>T ENST00000403716.1 + 8 1131 c.571C>T c.(571-573)Cga>Tga p.R191* PLEKHB2_ENST00000538982.1_Nonsense_Mutation_p.R143*|PLEKHB2_ENST00000409158.1_Nonsense_Mutation_p.R199*|PLEKHB2_ENST00000303908.3_Intron|PLEKHB2_ENST00000234115.6_Nonsense_Mutation_p.R190*|PLEKHB2_ENST00000438882.2_Silent_p.F154F|PLEKHB2_ENST00000439822.2_Silent_p.F146F|PLEKHB2_ENST00000409612.1_Nonsense_Mutation_p.R191*|PLEKHB2_ENST00000409279.1_Nonsense_Mutation_p.R191*|PLEKHB2_ENST00000404460.1_Intron NM_001100623.1|NM_001267062.1|NM_001267063.1|NM_001267064.1|NM_001267065.1|NM_001267066.1|NM_017958.2 NP_001094093.1|NP_001253991.1|NP_001253992.1|NP_001253993.1|NP_001253994.1|NP_001253995.1|NP_060428.2 Q96CS7 PKHB2_HUMAN pleckstrin homology domain containing, family B (evectins) member 2 191 membrane protein binding large_intestine(1)|lung(3)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 9 BRCA - Breast invasive adenocarcinoma(221;0.0828) AGTCATCATTCGAGAGCGCTA 0.507000 61 210 0 0 1 0 0 ARID1A 8289 broad.mit.edu 37 1 27058005 27058005 + Silent SNP G G A TCGA-CN-A63Y-01A-11D-A30E-08 TCGA-CN-A63Y-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1573766d-cd60-4498-bdad-dcb8d6bc88c8 8582b1ee-b97e-42ab-be9f-5d3899704723 g.chr1:27058005G>A ENST00000324856.7 + 3 2084 c.1713G>A c.(1711-1713)tcG>tcA p.S571S ARID1A_ENST00000457599.2_Silent_p.S571S|ARID1A_ENST00000374152.2_Silent_p.S188S NM_006015.4 NP_006006.3 O14497 ARI1A_HUMAN AT rich interactive domain 1A (SWI-like) 571 androgen receptor signaling pathway|chromatin-mediated maintenance of transcription|estrogen receptor signaling pathway|glucocorticoid receptor signaling pathway|nervous system development|nucleosome mobilization|transcription, DNA-dependent nBAF complex|npBAF complex|SWI/SNF complex DNA binding|protein binding ARID1A/MAST2_ENST00000361297(2) NS(1)|autonomic_ganglia(1)|biliary_tract(1)|breast(13)|central_nervous_system(6)|cervix(2)|endometrium(56)|haematopoietic_and_lymphoid_tissue(8)|kidney(10)|large_intestine(41)|liver(31)|lung(34)|ovary(130)|pancreas(18)|prostate(8)|skin(9)|stomach(14)|upper_aerodigestive_tract(4)|urinary_tract(24) 411 all_cancers(24;6.36e-27)|all_epithelial(13;5.93e-24)|Colorectal(325;3.46e-05)|all_lung(284;4.76e-05)|Lung NSC(340;5.83e-05)|Breast(348;9.7e-05)|Renal(390;0.0007)|Ovarian(437;0.00473)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0381) UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|all cancers(4;2.61e-56)|Epithelial(14;7.53e-55)|OV - Ovarian serous cystadenocarcinoma(117;4.5e-30)|Colorectal(126;2.07e-09)|COAD - Colon adenocarcinoma(152;4.29e-07)|BRCA - Breast invasive adenocarcinoma(304;4.13e-05)|STAD - Stomach adenocarcinoma(196;0.000279)|KIRC - Kidney renal clear cell carcinoma(1967;0.000794)|GBM - Glioblastoma multiforme(114;0.0132)|READ - Rectum adenocarcinoma(331;0.0469)|Lung(427;0.167)|LUSC - Lung squamous cell carcinoma(448;0.242) CAGCACCCTCGACGCTCTCCC 0.622000 """Mis, N, F, S, D""" """clear cell ovarian carcinoma, RCC""" 5 377 0 0 1 0 0 KIAA0586 9786 broad.mit.edu 37 14 58932576 58932576 + Missense_Mutation SNP A A C TCGA-CN-A63Y-01A-11D-A30E-08 TCGA-CN-A63Y-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1573766d-cd60-4498-bdad-dcb8d6bc88c8 8582b1ee-b97e-42ab-be9f-5d3899704723 g.chr14:58932576A>C ENST00000423743.3 + 16 2209 c.1951A>C c.(1951-1953)Aca>Cca p.T651P KIAA0586_ENST00000556134.1_Missense_Mutation_p.T680P|KIAA0586_ENST00000538571.2_3'UTR|KIAA0586_ENST00000354386.6_Missense_Mutation_p.T748P|KIAA0586_ENST00000261244.5_Missense_Mutation_p.T619P NM_001244191.1|NM_001244192.1 NP_001231120.1|NP_001231121.1 E9PGW8 E9PGW8_HUMAN KIAA0586 619 endometrium(4)|kidney(6)|large_intestine(8)|lung(12)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 34 GTCAATAAGAACACAGACTGA 0.333000 14 52 0 0 1 0 0 LOC100294341 100294341 broad.mit.edu 37 17 43587576 43587576 + RNA SNP A A G rs145439557 by1000genomes TCGA-CN-A63Y-01A-11D-A30E-08 TCGA-CN-A63Y-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1573766d-cd60-4498-bdad-dcb8d6bc88c8 8582b1ee-b97e-42ab-be9f-5d3899704723 g.chr17:43587576A>G ENST00000253803.2 + 0 267 LRRC37A4P_ENST00000579913.1_RNA tctgaaaagaaaagaaaaaaa 0.428000 5 89 0 0 1 0 0 CSNK2A1 1457 broad.mit.edu 37 20 470429 470429 + Missense_Mutation SNP C C T TCGA-CN-A63Y-01A-11D-A30E-08 TCGA-CN-A63Y-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1573766d-cd60-4498-bdad-dcb8d6bc88c8 8582b1ee-b97e-42ab-be9f-5d3899704723 g.chr20:470429C>T ENST00000217244.3 - 10 1093 c.718G>A c.(718-720)Gat>Aat p.D240N CSNK2A1_ENST00000400217.1_Missense_Mutation_p.D104N|CSNK2A1_ENST00000400227.3_Missense_Mutation_p.D240N|CSNK2A1_ENST00000349736.5_Missense_Mutation_p.D240N|CSNK2A1_ENST00000460062.1_5'UTR NM_177559.2 NP_808227.1 P68400 CSK21_HUMAN casein kinase 2, alpha 1 polypeptide 240 Protein kinase. axon guidance|Wnt receptor signaling pathway cytosol|NuRD complex|plasma membrane|Sin3 complex ATP binding|protein N-terminus binding|protein serine/threonine kinase activity autonomic_ganglia(1)|central_nervous_system(2)|endometrium(1)|large_intestine(4)|lung(5)|ovary(1)|prostate(2)|urinary_tract(1) 17 Breast(17;0.231) OV - Ovarian serous cystadenocarcinoma(29;0.0969) ATTACCTGATCATAATTGTCA 0.398000 5 38 0 0 1 0 0 FANCD2 2177 broad.mit.edu 37 3 10085540 10085540 + Missense_Mutation SNP G G A TCGA-CN-A63Y-01A-11D-A30E-08 TCGA-CN-A63Y-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1573766d-cd60-4498-bdad-dcb8d6bc88c8 8582b1ee-b97e-42ab-be9f-5d3899704723 g.chr3:10085540G>A ENST00000287647.3 + 14 1219 c.1126G>A c.(1126-1128)Gaa>Aaa p.E376K FANCD2_ENST00000419585.1_Missense_Mutation_p.E376K|FANCD2_ENST00000383807.1_Missense_Mutation_p.E376K|FANCD2_ENST00000383806.1_Missense_Mutation_p.E376K NM_033084.3 NP_149075.2 Q9BXW9 FACD2_HUMAN Fanconi anemia, complementation group D2 376 DNA repair|response to gamma radiation nucleoplasm protein binding NS(1)|breast(3)|central_nervous_system(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(11)|lung(10)|ovary(1)|prostate(3)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(3) 51 OV - Ovarian serous cystadenocarcinoma(96;0.148) CTCAGTATCTGAACACAAGGT 0.398000 """D, Mis, N, F""" """AML, leukemia""" Involved in tolerance or repair of DNA crosslinks Fanconi Anemia 7 19 0 0 1 0 0 SERPINA6 866 broad.mit.edu 37 14 94776138 94776138 + Missense_Mutation SNP C C T TCGA-CN-A63Y-01A-11D-A30E-08 TCGA-CN-A63Y-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1573766d-cd60-4498-bdad-dcb8d6bc88c8 8582b1ee-b97e-42ab-be9f-5d3899704723 g.chr14:94776138C>T ENST00000341584.3 - 3 965 c.819G>A c.(817-819)atG>atA p.M273I NM_001756.3 NP_001747.2 P08185 CBG_HUMAN serpin peptidase inhibitor, clade A (alpha-1 antiproteinase, antitrypsin), member 6 273 regulation of proteolysis|transport extracellular space serine-type endopeptidase inhibitor activity|steroid binding central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(11)|ovary(1)|skin(4)|upper_aerodigestive_tract(1) 26 all_cancers(154;0.0482)|all_epithelial(191;0.166) COAD - Colon adenocarcinoma(157;0.211) Alclometasone(DB00240)|Beclomethasone(DB00394)|Ciclesonide(DB01410)|Flumethasone Pivalate(DB00663)|Flunisolide(DB00180)|Fluocinolone Acetonide(DB00591)|Fluocinonide(DB01047)|Fluorometholone(DB00324)|Flurandrenolide(DB00846)|Fluticasone Propionate(DB00588)|Halobetasol Propionate(DB00596)|Medrysone(DB00253)|Mitotane(DB00648)|Paramethasone(DB01384)|Prednisolone(DB00860)|Rimexolone(DB00896)|Triamcinolone(DB00620) TGACTGTGTTCATCTTCCCCT 0.542000 27 87 0 0 1 0 0 NUDT16 131870 broad.mit.edu 37 3 131100765 131100765 + Silent SNP C C T TCGA-CN-A63Y-01A-11D-A30E-08 TCGA-CN-A63Y-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1573766d-cd60-4498-bdad-dcb8d6bc88c8 8582b1ee-b97e-42ab-be9f-5d3899704723 g.chr3:131100765C>T ENST00000359850.3 + 1 157 c.18C>T c.(16-18)atC>atT p.I6I NUDT16_ENST00000521288.1_Silent_p.I39I|NUDT16_ENST00000537561.1_Intron|NUDT16_ENST00000502852.1_Silent_p.I39I NM_152395.2 NP_689608.2 Q96DE0 NUD16_HUMAN nudix (nucleoside diphosphate linked moiety X)-type motif 16 39 nucleolus|nucleoplasm hydrolase activity|metal ion binding|RNA binding large_intestine(1)|lung(6) 7 TCGGCCGCATCCCGCTGCGCT 0.721000 6 38 0 0 1 0 0 TBC1D24 57465 broad.mit.edu 37 16 2550908 2550908 + Silent SNP C C T TCGA-CN-A63Y-01A-11D-A30E-08 TCGA-CN-A63Y-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1573766d-cd60-4498-bdad-dcb8d6bc88c8 8582b1ee-b97e-42ab-be9f-5d3899704723 g.chr16:2550908C>T ENST00000567020.1 + 7 1751 c.1611C>T c.(1609-1611)ttC>ttT p.F537F TBC1D24_ENST00000293970.5_Silent_p.F543F|TBC1D24_ENST00000434757.2_Silent_p.F543F|RP11-20I23.1_ENST00000564543.1_Intron NM_020705.2 NP_065756.1 Q9ULP9 TBC24_HUMAN TBC1 domain family, member 24 543 TLD. neuron projection development cytoplasm protein binding|Rab GTPase activator activity endometrium(2)|kidney(4)|large_intestine(3)|lung(4) 13 CCGAGAACTTCCTCATTGCTG 0.672000 OREG0023552 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 5 44 0 0 1 0 0 FANCD2 2177 broad.mit.edu 37 3 10085242 10085242 + Missense_Mutation SNP G G A TCGA-CN-A63Y-01A-11D-A30E-08 TCGA-CN-A63Y-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1573766d-cd60-4498-bdad-dcb8d6bc88c8 8582b1ee-b97e-42ab-be9f-5d3899704723 g.chr3:10085242G>A ENST00000287647.3 + 13 1157 c.1064G>A c.(1063-1065)aGa>aAa p.R355K FANCD2_ENST00000419585.1_Missense_Mutation_p.R355K|FANCD2_ENST00000383807.1_Missense_Mutation_p.R355K|FANCD2_ENST00000383806.1_Missense_Mutation_p.R355K NM_033084.3 NP_149075.2 Q9BXW9 FACD2_HUMAN Fanconi anemia, complementation group D2 355 Interaction with BRCA2. DNA repair|response to gamma radiation nucleoplasm protein binding NS(1)|breast(3)|central_nervous_system(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(11)|lung(10)|ovary(1)|prostate(3)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(3) 51 OV - Ovarian serous cystadenocarcinoma(96;0.148) TCAGCTATTAGATATGAGAAA 0.368000 """D, Mis, N, F""" """AML, leukemia""" Involved in tolerance or repair of DNA crosslinks Fanconi Anemia 10 50 0 0 1 0 0 PCSK5 5125 broad.mit.edu 37 9 78936474 78936474 + Missense_Mutation SNP G G A TCGA-CN-A63Y-01A-11D-A30E-08 TCGA-CN-A63Y-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1573766d-cd60-4498-bdad-dcb8d6bc88c8 8582b1ee-b97e-42ab-be9f-5d3899704723 g.chr9:78936474G>A ENST00000545128.1 + 30 4478 c.3940G>A c.(3940-3942)Gag>Aag p.E1314K NM_001190482.1 NP_001177411.1 Q92824 PCSK5_HUMAN proprotein convertase subtilisin/kexin type 5 726 anterior/posterior pattern formation|cell-cell signaling|cytokine biosynthetic process|embryo implantation|embryonic digestive tract development|embryonic skeletal system development|heart development|kidney development|limb morphogenesis|nerve growth factor processing|nerve growth factor receptor signaling pathway|peptide biosynthetic process|renin secretion into blood stream|respiratory tube development|signal peptide processing|viral assembly, maturation, egress, and release extracellular space|Golgi lumen|stored secretory granule peptide binding|serine-type endopeptidase activity NS(1)|breast(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(7)|liver(2)|lung(25)|ovary(2)|pancreas(1)|prostate(2)|skin(3) 55 AAACTGCCCCGAGAGGCACGT 0.547000 8 75 0 0 1 0 0 FAM187A 100528020 broad.mit.edu 37 17 42979942 42979942 + Translation_Start_Site SNP G G A TCGA-CN-A63Y-01A-11D-A30E-08 TCGA-CN-A63Y-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1573766d-cd60-4498-bdad-dcb8d6bc88c8 8582b1ee-b97e-42ab-be9f-5d3899704723 g.chr17:42979942G>A ENST00000331733.4 + 0 581 CCDC103_ENST00000410006.2_Silent_p.A162A|FAM187A_ENST00000412523.2_Intron|CCDC103_ENST00000417826.2_Silent_p.A162A NM_001258399.1|NM_213607.2 NP_001245328.1|NP_998772.1 family with sequence similarity 187, member A ACCGGGCAGCGGTGCTGGGGA 0.632000 7 114 0 0 1 0 0 KCNC3 3748 broad.mit.edu 37 19 50831719 50831719 + Silent SNP G G A TCGA-CN-A63Y-01A-11D-A30E-08 TCGA-CN-A63Y-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1573766d-cd60-4498-bdad-dcb8d6bc88c8 8582b1ee-b97e-42ab-be9f-5d3899704723 g.chr19:50831719G>A ENST00000376959.2 - 1 784 c.621C>T c.(619-621)ccC>ccT p.P207P KCNC3_ENST00000477616.1_Silent_p.P207P|KCNC3_ENST00000474951.1_Intron|KCNC3_ENST00000391818.2_Intron Q14003 KCNC3_HUMAN potassium voltage-gated channel, Shaw-related subfamily, member 3 207 cell death voltage-gated potassium channel complex voltage-gated potassium channel activity p.A208fs*116(1) endometrium(2)|large_intestine(4)|lung(5)|pancreas(1)|skin(1) 13 all_neural(266;0.057)|Ovarian(192;0.208) OV - Ovarian serous cystadenocarcinoma(262;0.00283)|GBM - Glioblastoma multiforme(134;0.0181) CGGCGCCCGCGGGGTCGGGCG 0.776000 3 25 0 0 1 0 0 ORAI2 80228 broad.mit.edu 37 7 102087373 102087373 + Silent SNP C C G TCGA-CN-A63Y-01A-11D-A30E-08 TCGA-CN-A63Y-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1573766d-cd60-4498-bdad-dcb8d6bc88c8 8582b1ee-b97e-42ab-be9f-5d3899704723 g.chr7:102087373C>G ENST00000356387.2 + 4 874 c.639C>G c.(637-639)gtC>gtG p.V213V ORAI2_ENST00000403646.3_Silent_p.V213V|ORAI2_ENST00000478730.1_Silent_p.V213V|ORAI2_ENST00000488996.1_3'UTR|ORAI2_ENST00000473939.1_Silent_p.V213V NM_001126340.1|NM_001271818.1|NM_001271819.1|NM_032831.3 NP_001119812.1|NP_001258747.1|NP_001258748.1|NP_116220.1 Q96SN7 ORAI2_HUMAN ORAI calcium release-activated calcium modulator 2 213 integral to membrane protein binding autonomic_ganglia(1)|breast(1)|endometrium(3)|kidney(1)|lung(4)|ovary(1)|prostate(1)|skin(2)|urinary_tract(1) 15 TCTTCGTGGTCTTCACCATCC 0.662000 4 38 0 0 1 0 0 GPX1 2876 broad.mit.edu 37 3 49395178 49395178 + Missense_Mutation SNP C C G TCGA-CN-A63Y-01A-11D-A30E-08 TCGA-CN-A63Y-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1573766d-cd60-4498-bdad-dcb8d6bc88c8 8582b1ee-b97e-42ab-be9f-5d3899704723 g.chr3:49395178C>G ENST00000419783.1 - 2 576 c.255G>C c.(253-255)gaG>gaC p.E85D GPX1_ENST00000419349.1_3'UTR|GPX1_ENST00000496791.1_5'UTR NM_000581.2 NP_000572.2 P07203 GPX1_HUMAN glutathione peroxidase 1 85 anti-apoptosis|cell redox homeostasis|glutathione metabolic process|heart contraction|hydrogen peroxide catabolic process|negative regulation of caspase activity|purine base metabolic process|purine nucleotide catabolic process|regulation of gene expression, epigenetic|regulation of mammary gland epithelial cell proliferation|regulation of proteasomal protein catabolic process|release of cytochrome c from mitochondria|response to selenium ion|UV protection cytosol|mitochondrion endopeptidase inhibitor activity|glutathione peroxidase activity|SH3 domain binding breast(1)|large_intestine(2)|lung(1) 4 BRCA - Breast invasive adenocarcinoma(193;8.01e-05)|Kidney(197;0.00216)|KIRC - Kidney renal clear cell carcinoma(197;0.00244) Glutathione(DB00143) TCTTGGCGTTCTCCTACAGGA 0.517000 20 80 0 0 1 0 0 TBL1Y 90665 broad.mit.edu 37 Y 6939823 6939823 + Silent SNP G G A TCGA-CN-A63Y-01A-11D-A30E-08 TCGA-CN-A63Y-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1573766d-cd60-4498-bdad-dcb8d6bc88c8 8582b1ee-b97e-42ab-be9f-5d3899704723 g.chrY:6939823G>A ENST00000383032.1 + 12 1493 c.846G>A c.(844-846)ctG>ctA p.L282L TBL1Y_ENST00000346432.3_Silent_p.L282L|TBL1Y_ENST00000355162.2_Silent_p.L282L NM_033284.1 NP_150600.1 Q9BQ87 TBL1Y_HUMAN transducin (beta)-like 1, Y-linked 282 transcription, DNA-dependent kidney(1)|large_intestine(4)|lung(2)|skin(1) 8 TCTTCGCTCTGAAATGGAACA 0.388000 7 16 0 0 1 0 0 C14orf182 283551 broad.mit.edu 37 14 50472359 50472359 + Silent SNP G G A TCGA-CN-A63Y-01A-11D-A30E-08 TCGA-CN-A63Y-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1573766d-cd60-4498-bdad-dcb8d6bc88c8 8582b1ee-b97e-42ab-be9f-5d3899704723 g.chr14:50472359G>A ENST00000399206.1 - 1 1879 c.159C>T c.(157-159)ttC>ttT p.F53F C14orf182_ENST00000529902.1_5'UTR NM_001012706.1 NP_001012724.1 A1A4T8 CN182_HUMAN chromosome 14 open reading frame 182 53 large_intestine(2)|urinary_tract(1) 3 GCAAGAAGACGAAATGTCTGT 0.532000 37 174 0 0 1 0 0 NDEL1 81565 broad.mit.edu 37 17 8354194 8354194 + Missense_Mutation SNP C C G TCGA-CN-A63Y-01A-11D-A30E-08 TCGA-CN-A63Y-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1573766d-cd60-4498-bdad-dcb8d6bc88c8 8582b1ee-b97e-42ab-be9f-5d3899704723 g.chr17:8354194C>G ENST00000334527.7 + 6 820 c.623C>G c.(622-624)tCc>tGc p.S208C NDEL1_ENST00000402554.3_Missense_Mutation_p.S208C|NDEL1_ENST00000380025.4_Missense_Mutation_p.S208C|NDEL1_ENST00000585098.1_Intron|NDEL1_ENST00000299734.7_Missense_Mutation_p.S208C NM_030808.4 NP_110435.1 Q9GZM8 NDEL1_HUMAN nudE neurodevelopment protein 1-like 1 208 Interaction with CENPF.|Interaction with KATNA1 (By similarity).|Interaction with NEFL (By similarity).|Interaction with YWHAE (By similarity). chromosome segregation|mitotic prometaphase condensed chromosome kinetochore|cytosol|microtubule|spindle large_intestine(6)|lung(4)|skin(3) 13 AAGATGGACTCCGCCGTCCAA 0.453000 10 32 0 0 1 0 0 TRIB1 10221 broad.mit.edu 37 8 126445713 126445713 + Missense_Mutation SNP G G A TCGA-CN-A63Y-01A-11D-A30E-08 TCGA-CN-A63Y-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1573766d-cd60-4498-bdad-dcb8d6bc88c8 8582b1ee-b97e-42ab-be9f-5d3899704723 g.chr8:126445713G>A ENST00000311922.3 + 2 1097 c.515G>A c.(514-516)cGa>cAa p.R172Q TRIB1_ENST00000520847.1_Missense_Mutation_p.R6Q|TRIB1_ENST00000521778.1_3'UTR NM_025195.2 NP_079471.1 Q96RU8 TRIB1_HUMAN tribbles pseudokinase 1 172 Protein kinase. JNK cascade|negative regulation of lipopolysaccharide-mediated signaling pathway|negative regulation of protein kinase activity|negative regulation of sequence-specific DNA binding transcription factor activity|negative regulation of smooth muscle cell migration|negative regulation of smooth muscle cell proliferation|positive regulation of proteasomal ubiquitin-dependent protein catabolic process|regulation of MAP kinase activity|response to lipopolysaccharide cytoplasm|nucleus ATP binding|mitogen-activated protein kinase kinase binding|protein kinase activity|protein kinase inhibitor activity|transcription factor binding|ubiquitin protein ligase binding|ubiquitin-protein ligase regulator activity NS(1)|large_intestine(2)|lung(2)|prostate(2)|urinary_tract(1) 8 all_hematologic(1;4.97e-05)|Ovarian(258;0.00167)|all_neural(195;0.00294)|Hepatocellular(40;0.108) STAD - Stomach adenocarcinoma(47;0.000918) TCCTATGTGCGAAGCCGGAAG 0.577000 5 191 0 0 1 0 0 CMYA5 202333 broad.mit.edu 37 5 79026961 79026961 + Missense_Mutation SNP C C G TCGA-CN-A63Y-01A-11D-A30E-08 TCGA-CN-A63Y-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1573766d-cd60-4498-bdad-dcb8d6bc88c8 8582b1ee-b97e-42ab-be9f-5d3899704723 g.chr5:79026961C>G ENST00000446378.2 + 2 2404 c.2373C>G c.(2371-2373)ttC>ttG p.F791L NM_153610.3 NP_705838.3 Q8N3K9 CMYA5_HUMAN cardiomyopathy associated 5 791 perinuclear region of cytoplasm NS(2)|breast(4)|central_nervous_system(1)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(4)|kidney(4)|large_intestine(37)|lung(34)|ovary(6)|pancreas(2)|prostate(5)|skin(5)|stomach(11)|upper_aerodigestive_tract(3)|urinary_tract(1) 128 Lung NSC(167;0.00296)|all_lung(232;0.00327)|Ovarian(174;0.0262) OV - Ovarian serous cystadenocarcinoma(54;9.85e-46)|Epithelial(54;3.38e-40)|all cancers(79;3.43e-35) GTGAACGTTTCACACCGGATT 0.453000 24 85 0 0 1 0 0 SPAG5 10615 broad.mit.edu 37 17 26912913 26912913 + Missense_Mutation SNP C C T TCGA-CN-A63Y-01A-11D-A30E-08 TCGA-CN-A63Y-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1573766d-cd60-4498-bdad-dcb8d6bc88c8 8582b1ee-b97e-42ab-be9f-5d3899704723 g.chr17:26912913C>T ENST00000321765.5 - 7 2041 c.1709G>A c.(1708-1710)aGa>aAa p.R570K NM_006461.3 NP_006452.3 Q96R06 SPAG5_HUMAN sperm associated antigen 5 570 cell division|mitosis|phosphatidylinositol-mediated signaling|spindle organization condensed chromosome kinetochore|cytoplasm|spindle pole protein binding NS(1)|breast(3)|central_nervous_system(1)|endometrium(5)|kidney(4)|large_intestine(8)|lung(17)|ovary(1)|skin(2)|upper_aerodigestive_tract(1) 43 Lung NSC(42;0.00431) CATTTCCTCTCTGTGCCTTGC 0.502000 50 215 0 0 1 0 0 CADPS 8618 broad.mit.edu 37 3 62860622 62860622 + Missense_Mutation SNP G G A TCGA-CN-A63Y-01A-11D-A30E-08 TCGA-CN-A63Y-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1573766d-cd60-4498-bdad-dcb8d6bc88c8 8582b1ee-b97e-42ab-be9f-5d3899704723 g.chr3:62860622G>A ENST00000383710.4 - 1 432 c.83C>T c.(82-84)cCg>cTg p.P28L CADPS_ENST00000357948.3_Missense_Mutation_p.P28L|CADPS_ENST00000283269.9_Missense_Mutation_p.P28L|CADPS_ENST00000490353.2_Missense_Mutation_p.P28L NM_003716.3 NP_003707.2 Q9ULU8 CAPS1_HUMAN Ca++-dependent secretion activator 28 exocytosis|protein transport cell junction|cytoplasmic vesicle membrane|cytosol|synapse lipid binding|metal ion binding breast(3)|central_nervous_system(2)|endometrium(6)|kidney(6)|large_intestine(24)|lung(38)|ovary(4)|prostate(3)|skin(3)|stomach(1)|urinary_tract(2) 92 Lung SC(41;0.0452) BRCA - Breast invasive adenocarcinoma(55;5.98e-05)|KIRC - Kidney renal clear cell carcinoma(15;0.0246)|Kidney(15;0.0334) CGCGCCGGACGGGGCCGAGCC 0.746000 3 13 0 0 1 0 0 ZSCAN5B 342933 broad.mit.edu 37 19 56704176 56704176 + Silent SNP C C T TCGA-CN-A63Y-01A-11D-A30E-08 TCGA-CN-A63Y-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1573766d-cd60-4498-bdad-dcb8d6bc88c8 8582b1ee-b97e-42ab-be9f-5d3899704723 g.chr19:56704176C>T ENST00000586855.2 - 2 559 c.246G>A c.(244-246)caG>caA p.Q82Q ZSCAN5B_ENST00000358992.3_Silent_p.Q82Q A6NJL1 ZSA5B_HUMAN zinc finger and SCAN domain containing 5B 82 SCAN box. viral reproduction nucleus DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding breast(1)|endometrium(5)|large_intestine(3)|lung(23)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1) 37 TGTCCAGGATCTGCTCTTTGG 0.577000 7 26 0 0 1 0 0 GPR55 9290 broad.mit.edu 37 2 231774925 231774925 + Silent SNP C C T TCGA-CN-A63Y-01A-11D-A30E-08 TCGA-CN-A63Y-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1573766d-cd60-4498-bdad-dcb8d6bc88c8 8582b1ee-b97e-42ab-be9f-5d3899704723 g.chr2:231774925C>T ENST00000392040.1 - 2 945 c.753G>A c.(751-753)ctG>ctA p.L251L GPR55_ENST00000392039.2_Silent_p.L251L NM_005683.3 NP_005674.2 Q9Y2T6 GPR55_HUMAN G protein-coupled receptor 55 251 activation of phospholipase C activity|bone resorption|negative regulation of osteoclast differentiation|positive regulation of ERK1 and ERK2 cascade|positive regulation of Rho protein signal transduction integral to plasma membrane cannabinoid receptor activity endometrium(1)|large_intestine(1)|lung(14)|ovary(1)|prostate(1)|skin(1)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 23 Renal(207;0.0112)|all_lung(227;0.0741)|all_hematologic(139;0.0748)|Acute lymphoblastic leukemia(138;0.167)|Lung NSC(271;0.204) Epithelial(121;1.04e-11)|all cancers(144;4.22e-09)|LUSC - Lung squamous cell carcinoma(224;0.0119)|Lung(119;0.0145) TGTTTCTCACCAGGAACTGCA 0.542000 20 97 0 0 1 0 0 TLE1 7088 broad.mit.edu 37 9 84226773 84226773 + Missense_Mutation SNP C C T TCGA-CN-A63Y-01A-11D-A30E-08 TCGA-CN-A63Y-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1573766d-cd60-4498-bdad-dcb8d6bc88c8 8582b1ee-b97e-42ab-be9f-5d3899704723 g.chr9:84226773C>T ENST00000376499.3 - 13 2229 c.1165G>A c.(1165-1167)Gct>Act p.A389T TLE1_ENST00000376484.1_Missense_Mutation_p.A64T|TLE1_ENST00000376472.1_Missense_Mutation_p.A64T|TLE1_ENST00000464999.1_5'UTR NM_005077.3 NP_005068.2 Q04724 TLE1_HUMAN transducin-like enhancer of split 1 (E(sp1) homolog, Drosophila) 389 Pro/Ser-rich. negative regulation of Wnt receptor signaling pathway|organ morphogenesis|transcription, DNA-dependent|Wnt receptor signaling pathway transcription factor binding NS(1)|endometrium(5)|kidney(2)|large_intestine(2)|lung(11)|ovary(1)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(1) 29 GCGTAGGCAGCGCCTGGGCTG 0.687000 15 64 0 0 1 0 0 IPO5 3843 broad.mit.edu 37 13 98655279 98655279 + Silent SNP G G A TCGA-CN-A63Y-01A-11D-A30E-08 TCGA-CN-A63Y-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1573766d-cd60-4498-bdad-dcb8d6bc88c8 8582b1ee-b97e-42ab-be9f-5d3899704723 g.chr13:98655279G>A ENST00000261574.5 + 16 1719 c.1539G>A c.(1537-1539)ctG>ctA p.L513L IPO5_ENST00000493492.2_3'UTR|IPO5_ENST00000539640.1_Silent_p.L370L|IPO5_ENST00000490680.1_Silent_p.L495L NM_002271.4 NP_002262.3 O00410 IPO5_HUMAN importin 5 495 interspecies interaction between organisms|NLS-bearing substrate import into nucleus|ribosomal protein import into nucleus cytoplasm|nuclear pore|nucleolus GTPase inhibitor activity|protein transporter activity|Ran GTPase binding breast(2)|endometrium(2)|large_intestine(8)|lung(8)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2) 27 TTATGGTACTGAAGCTTCAAG 0.398000 21 180 0 0 1 0 0 PCSK6 5046 broad.mit.edu 37 15 101872144 101872144 + Missense_Mutation SNP C C G TCGA-CN-A63Y-01A-11D-A30E-08 TCGA-CN-A63Y-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1573766d-cd60-4498-bdad-dcb8d6bc88c8 8582b1ee-b97e-42ab-be9f-5d3899704723 g.chr15:101872144C>G ENST00000348070.1 - 15 1947 c.1948G>C c.(1948-1950)Gag>Cag p.E650Q PCSK6_ENST00000561177.1_5'UTR|PCSK6_ENST00000358417.3_Missense_Mutation_p.E650Q NM_002570.3|NM_138320.1 NP_002561.1|NP_612193.1 P29122 PCSK6_HUMAN proprotein convertase subtilisin/kexin type 6 651 glycoprotein metabolic process|nerve growth factor processing|nerve growth factor production|nerve growth factor receptor signaling pathway|regulation of BMP signaling pathway|secretion by cell cell surface|endomembrane system|endoplasmic reticulum|extracellular matrix|extracellular space|Golgi lumen|membrane|soluble fraction eukaryotic cell surface binding|heparin binding|nerve growth factor binding|serine-type endopeptidase activity breast(1)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(5)|lung(17)|pancreas(2)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 32 Lung NSC(78;0.00102)|all_lung(78;0.00128)|Melanoma(26;0.00505) OV - Ovarian serous cystadenocarcinoma(32;0.000803)|LUSC - Lung squamous cell carcinoma(107;0.187)|Lung(145;0.23) GCTGAGAGCTCCAGCATCCGC 0.572000 6 31 0 0 1 0 0 PCSK4 54760 broad.mit.edu 37 19 1489887 1489887 + Missense_Mutation SNP C C T TCGA-CN-A63Y-01A-11D-A30E-08 TCGA-CN-A63Y-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1573766d-cd60-4498-bdad-dcb8d6bc88c8 8582b1ee-b97e-42ab-be9f-5d3899704723 g.chr19:1489887C>T ENST00000300954.5 - 2 260 c.199G>A c.(199-201)Gac>Aac p.D67N PCSK4_ENST00000587784.1_Intron NM_017573.3 NP_060043.2 Q6UW60 PCSK4_HUMAN proprotein convertase subtilisin/kexin type 4 67 proteolysis integral to membrane serine-type endopeptidase activity cervix(2)|endometrium(2)|kidney(1)|lung(6)|ovary(2)|skin(1)|upper_aerodigestive_tract(1) 15 Acute lymphoblastic leukemia(61;3.02e-13)|all_hematologic(61;4.32e-09)|Hepatocellular(1079;0.137) UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18) TACTGCCCGTCAGGGAAGATC 0.667000 3 12 0 0 1 0 0 NIPBL 25836 broad.mit.edu 37 5 37051956 37051956 + Missense_Mutation SNP G G A TCGA-CN-A63Y-01A-11D-A30E-08 TCGA-CN-A63Y-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1573766d-cd60-4498-bdad-dcb8d6bc88c8 8582b1ee-b97e-42ab-be9f-5d3899704723 g.chr5:37051956G>A ENST00000282516.8 + 41 7529 c.7030G>A c.(7030-7032)Gaa>Aaa p.E2344K NIPBL_ENST00000448238.2_Missense_Mutation_p.E2344K NM_015384.4|NM_133433.3 NP_056199.2|NP_597677.2 Q6KC79 NIPBL_HUMAN Nipped-B homolog (Drosophila) 2344 brain development|cellular protein localization|cellular response to X-ray|cognition|developmental growth|ear morphogenesis|embryonic arm morphogenesis|embryonic digestive tract morphogenesis|external genitalia morphogenesis|eye morphogenesis|face morphogenesis|gall bladder development|maintenance of mitotic sister chromatid cohesion|metanephros development|negative regulation of transcription from RNA polymerase II promoter|outflow tract morphogenesis|positive regulation of histone deacetylation|regulation of developmental growth|regulation of embryonic development|regulation of hair cycle|response to DNA damage stimulus|sensory perception of sound|uterus morphogenesis SMC loading complex chromo shadow domain binding|histone deacetylase binding|protein C-terminus binding|protein N-terminus binding autonomic_ganglia(1)|breast(4)|endometrium(9)|kidney(22)|large_intestine(21)|liver(1)|lung(47)|ovary(7)|pancreas(1)|prostate(1)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(4) 128 all_lung(31;0.000447)|Hepatocellular(1;0.108) Epithelial(62;0.072)|COAD - Colon adenocarcinoma(61;0.14)|all cancers(62;0.191)|Colorectal(62;0.202) GCAACTTGTGGAAATAGACAA 0.313000 10 45 0 0 1 0 0 DEFB136 613210 broad.mit.edu 37 8 11832092 11832092 + Missense_Mutation SNP G G C TCGA-CN-A63Y-01A-11D-A30E-08 TCGA-CN-A63Y-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1573766d-cd60-4498-bdad-dcb8d6bc88c8 8582b1ee-b97e-42ab-be9f-5d3899704723 g.chr8:11832092G>C ENST00000382209.2 - 1 16 c.17C>G c.(16-18)tCt>tGt p.S6C NM_001033018.2 NP_001028190.2 Q30KP8 DB136_HUMAN defensin, beta 136 6 defense response to bacterium extracellular region endometrium(2)|large_intestine(1)|lung(4) 7 STAD - Stomach adenocarcinoma(15;0.033) COAD - Colon adenocarcinoma(149;0.163) GAGTAATGCAGAAAGACAGAG 0.507000 31 134 0 0 1 0 0 RNF216 54476 broad.mit.edu 37 7 5781327 5781327 + Missense_Mutation SNP C C G TCGA-CN-A63Y-01A-11D-A30E-08 TCGA-CN-A63Y-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1573766d-cd60-4498-bdad-dcb8d6bc88c8 8582b1ee-b97e-42ab-be9f-5d3899704723 g.chr7:5781327C>G ENST00000389902.3 - 4 588 c.321G>C c.(319-321)aaG>aaC p.K107N RNF216_ENST00000425013.2_Intron Q9NWF9 RN216_HUMAN ring finger protein 216 65 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) AATAGCTGCTCTTATCTGATT 0.458000 36 145 0 0 1 0 0 HIST2H2AB 317772 broad.mit.edu 37 1 149859298 149859298 + Missense_Mutation SNP C C G TCGA-CN-A63Y-01A-11D-A30E-08 TCGA-CN-A63Y-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1573766d-cd60-4498-bdad-dcb8d6bc88c8 8582b1ee-b97e-42ab-be9f-5d3899704723 g.chr1:149859298C>G ENST00000331128.3 - 1 168 c.169G>C c.(169-171)Gag>Cag p.E57Q NM_175065.2 NP_778235.1 Q8IUE6 H2A2B_HUMAN histone cluster 2, H2ab 57 nucleosome assembly nucleosome|nucleus DNA binding breast(1)|cervix(1)|endometrium(2)|kidney(3)|large_intestine(2)|lung(4)|ovary(1)|upper_aerodigestive_tract(1) 15 Breast(34;0.0124)|all_hematologic(923;0.127) STAD - Stomach adenocarcinoma(528;0.133)|LUSC - Lung squamous cell carcinoma(543;0.221) GTCAGGTACTCGAGGACCGCC 0.662000 32 109 0 0 1 0 0 PSG4 5672 broad.mit.edu 37 19 43702371 43702371 + Missense_Mutation SNP C C T TCGA-CN-A63Y-01A-11D-A30E-08 TCGA-CN-A63Y-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1573766d-cd60-4498-bdad-dcb8d6bc88c8 8582b1ee-b97e-42ab-be9f-5d3899704723 g.chr19:43702371C>T ENST00000405312.3 - 3 724 c.487G>A c.(487-489)Gag>Aag p.E163K PSG4_ENST00000244295.9_Missense_Mutation_p.E163K|PSG4_ENST00000433626.2_Intron NM_002780.3 NP_002771.2 Q00888 PSG4_HUMAN pregnancy specific beta-1-glycoprotein 4 163 Ig-like C2-type 1. defense response|female pregnancy extracellular region central_nervous_system(1)|endometrium(2)|large_intestine(8)|lung(10)|ovary(1)|pancreas(1)|upper_aerodigestive_tract(1) 24 Prostate(69;0.00682) ATCACAGCCTCCATGGCCTCC 0.547000 67 263 0 0 1 0 0 MON1A 84315 broad.mit.edu 37 3 49948975 49948975 + Silent SNP G G A TCGA-CN-A63Y-01A-11D-A30E-08 TCGA-CN-A63Y-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1573766d-cd60-4498-bdad-dcb8d6bc88c8 8582b1ee-b97e-42ab-be9f-5d3899704723 g.chr3:49948975G>A ENST00000417270.1 - 4 1314 c.621C>T c.(619-621)atC>atT p.I207I CTD-2330K9.3_ENST00000419183.1_Intron|MON1A_ENST00000296473.3_Silent_p.I296I|MON1A_ENST00000455683.2_Intron Q86VX9 MON1A_HUMAN MON1 secretory trafficking family member A 199 protein binding breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(3)|ovary(2)|prostate(1) 13 BRCA - Breast invasive adenocarcinoma(193;4.62e-05)|KIRC - Kidney renal clear cell carcinoma(197;0.00551)|Kidney(197;0.00621) GGATGGAGCGGATGGCGTTCT 0.597000 18 68 0 0 1 0 0 MON1A 84315 broad.mit.edu 37 3 49949205 49949205 + Missense_Mutation SNP G G C TCGA-CN-A63Y-01A-11D-A30E-08 TCGA-CN-A63Y-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1573766d-cd60-4498-bdad-dcb8d6bc88c8 8582b1ee-b97e-42ab-be9f-5d3899704723 g.chr3:49949205G>C ENST00000417270.1 - 4 1084 c.391C>G c.(391-393)Ccc>Gcc p.P131A CTD-2330K9.3_ENST00000419183.1_Intron|MON1A_ENST00000296473.3_Missense_Mutation_p.P220A|MON1A_ENST00000483022.1_5'UTR|MON1A_ENST00000455683.2_Intron Q86VX9 MON1A_HUMAN MON1 secretory trafficking family member A 123 protein binding breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(3)|ovary(2)|prostate(1) 13 BRCA - Breast invasive adenocarcinoma(193;4.62e-05)|KIRC - Kidney renal clear cell carcinoma(197;0.00551)|Kidney(197;0.00621) GCCCCTGGGGGTTCCAGCCAA 0.657000 16 72 0 0 1 0 0 BAG2 9532 broad.mit.edu 37 6 57048881 57048881 + Missense_Mutation SNP C C G TCGA-CN-A63Y-01A-11D-A30E-08 TCGA-CN-A63Y-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1573766d-cd60-4498-bdad-dcb8d6bc88c8 8582b1ee-b97e-42ab-be9f-5d3899704723 g.chr6:57048881C>G ENST00000370693.5 + 3 901 c.529C>G c.(529-531)Ctg>Gtg p.L177V BAG2_ENST00000545080.1_Missense_Mutation_p.L144V NM_004282.3 NP_004273.1 O95816 BAG2_HUMAN BCL2-associated athanogene 2 177 BAG. apoptosis|protein folding protein binding endometrium(1)|large_intestine(1) 2 Lung NSC(77;0.126) LUSC - Lung squamous cell carcinoma(124;0.0785)|Lung(124;0.13) ATTAGAGACTCTGCTTAGAAA 0.393000 14 50 0 0 1 0 0 BRAF 673 broad.mit.edu 37 7 140453155 140453155 + Missense_Mutation SNP C C T TCGA-CN-A63Y-01A-11D-A30E-08 TCGA-CN-A63Y-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1573766d-cd60-4498-bdad-dcb8d6bc88c8 8582b1ee-b97e-42ab-be9f-5d3899704723 g.chr7:140453155C>T ENST00000288602.6 - 15 1840 c.1780G>A c.(1780-1782)Gat>Aat p.D594N NM_004333.4 NP_004324.2 P15056 BRAF_HUMAN v-raf murine sarcoma viral oncogene homolog B 594 Protein kinase. D -> G (in NHL). activation of MAPKK activity|anti-apoptosis|nerve growth factor receptor signaling pathway|organ morphogenesis|positive regulation of peptidyl-serine phosphorylation|small GTPase mediated signal transduction|synaptic transmission cytosol|nucleus|plasma membrane ATP binding|metal ion binding p.D594N(9)|p.D594H(2) SLC45A3/BRAF(2)|AGTRAP/BRAF(2)|FAM131B_ENST00000443739/BRAF(7)|AKAP9_ENST00000356239/BRAF(10)|KIAA1549/BRAF(703)|FCHSD1/BRAF(2) NS(588)|adrenal_gland(3)|autonomic_ganglia(3)|biliary_tract(29)|bone(7)|breast(21)|central_nervous_system(99)|cervix(6)|endometrium(33)|eye(72)|gastrointestinal_tract_(site_indeterminate)(2)|genital_tract(4)|haematopoietic_and_lymphoid_tissue(436)|kidney(3)|large_intestine(6953)|liver(17)|lung(192)|oesophagus(4)|ovary(275)|pancreas(15)|pituitary(1)|prostate(25)|salivary_gland(1)|skin(6285)|small_intestine(12)|soft_tissue(40)|stomach(11)|testis(7)|thyroid(12220)|upper_aerodigestive_tract(13)|urinary_tract(3) 27380 Melanoma(164;0.00956) Sorafenib(DB00398) AGACCAAAATCACCTATTTTT 0.378000 61 """Mis, T, O""" """AKAP9, KIAA1549""" """melanoma, colorectal, papillary thyroid, borderline ov, Non small-cell lung cancer (NSCLC), cholangiocarcinoma, pilocytic astrocytoma""" Cardio-facio-cutaneous syndrome Cardiofaciocutaneous syndrome 14 57 0 0 1 0 0 DNAH3 55567 broad.mit.edu 37 16 20975195 20975195 + Silent SNP C C T TCGA-CN-A63Y-01A-11D-A30E-08 TCGA-CN-A63Y-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1573766d-cd60-4498-bdad-dcb8d6bc88c8 8582b1ee-b97e-42ab-be9f-5d3899704723 g.chr16:20975195C>T ENST00000261383.3 - 53 10010 c.10011G>A c.(10009-10011)acG>acA p.T3337T DNAH3_ENST00000415178.1_3'UTR NM_017539.1 NP_060009.1 Q8TD57 DYH3_HUMAN dynein, axonemal, heavy chain 3 3337 ciliary or flagellar motility|microtubule-based movement axonemal dynein complex|cilium axoneme|cytoplasm|microtubule ATP binding|microtubule motor activity NS(3)|autonomic_ganglia(1)|breast(12)|central_nervous_system(3)|cervix(2)|endometrium(15)|haematopoietic_and_lymphoid_tissue(4)|kidney(10)|large_intestine(42)|liver(2)|lung(57)|ovary(14)|pancreas(1)|prostate(7)|skin(11)|stomach(5)|upper_aerodigestive_tract(7)|urinary_tract(6) 202 GBM - Glioblastoma multiforme(48;0.207) CCTCGCTCTTCGTGCTGTGGG 0.478000 37 104 0 0 1 0 0 ADAMTS10 81794 broad.mit.edu 37 19 8657722 8657722 + Missense_Mutation SNP C C G TCGA-CN-A63Y-01A-11D-A30E-08 TCGA-CN-A63Y-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1573766d-cd60-4498-bdad-dcb8d6bc88c8 8582b1ee-b97e-42ab-be9f-5d3899704723 g.chr19:8657722C>G ENST00000270328.4 - 12 1778 c.1512G>C c.(1510-1512)aaG>aaC p.K504N ADAMTS10_ENST00000597188.1_Missense_Mutation_p.K504N Q9H324 ATS10_HUMAN ADAM metallopeptidase with thrombospondin type 1 motif, 10 504 Disintegrin. proteolysis proteinaceous extracellular matrix metalloendopeptidase activity|zinc ion binding NS(1)|autonomic_ganglia(1)|breast(2)|endometrium(2)|kidney(16)|large_intestine(5)|lung(9)|ovary(1)|pancreas(2)|prostate(3)|skin(10)|urinary_tract(1) 53 ACCGGTTGCTCTTGCTCAGAC 0.716000 3 29 0 0 1 0 0 TNXB 7148 broad.mit.edu 37 6 32023946 32023946 + Missense_Mutation SNP C C T TCGA-CN-A63Y-01A-11D-A30E-08 TCGA-CN-A63Y-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1573766d-cd60-4498-bdad-dcb8d6bc88c8 8582b1ee-b97e-42ab-be9f-5d3899704723 g.chr6:32023946C>T ENST00000375244.3 - 24 8350 c.8149G>A c.(8149-8151)Gag>Aag p.E2717K TNXB_ENST00000375247.2_Missense_Mutation_p.E2717K P22105 TENX_HUMAN tenascin XB 2775 Fibronectin type-III 19. actin cytoskeleton organization|cell adhesion|collagen metabolic process|elastic fiber assembly|signal transduction extracellular space|intracellular|proteinaceous extracellular matrix heparin binding|integrin binding endometrium(1)|kidney(1)|large_intestine(1)|lung(4)|prostate(1) 8 GTCTCTTCCTCTGCAGCTGAG 0.612000 10 45 0 0 1 0 0 C3AR1 719 broad.mit.edu 37 12 8212398 8212398 + Silent SNP G G A TCGA-CN-A63Y-01A-11D-A30E-08 TCGA-CN-A63Y-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1573766d-cd60-4498-bdad-dcb8d6bc88c8 8582b1ee-b97e-42ab-be9f-5d3899704723 g.chr12:8212398G>A ENST00000307637.4 - 2 587 c.384C>T c.(382-384)atC>atT p.I128I NM_004054.2 NP_004045.1 Q16581 C3AR_HUMAN complement component 3a receptor 1 128 blood circulation|chemotaxis|elevation of cytosolic calcium ion concentration|inflammatory response integral to plasma membrane C3a anaphylatoxin receptor activity|complement component C3a receptor activity|phosphatidylinositol phospholipase C activity breast(1)|kidney(1)|large_intestine(7)|lung(10)|ovary(1) 20 Kidney(36;0.0893) TCTGACACCAGATTGGCTTGA 0.502000 16 82 0 0 1 0 0 FREM2 341640 broad.mit.edu 37 13 39261962 39261962 + Missense_Mutation SNP G G A TCGA-CN-A63Y-01A-11D-A30E-08 TCGA-CN-A63Y-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1573766d-cd60-4498-bdad-dcb8d6bc88c8 8582b1ee-b97e-42ab-be9f-5d3899704723 g.chr13:39261962G>A ENST00000280481.7 + 1 697 c.481G>A c.(481-483)Gga>Aga p.G161R NM_207361.4 NP_997244.3 Q5SZK8 FREM2_HUMAN FRAS1 related extracellular matrix protein 2 161 cell communication|homophilic cell adhesion|multicellular organismal development integral to membrane|plasma membrane calcium ion binding NS(1)|breast(2)|central_nervous_system(2)|cervix(1)|endometrium(14)|haematopoietic_and_lymphoid_tissue(3)|kidney(8)|large_intestine(35)|lung(39)|ovary(9)|pancreas(2)|prostate(12)|skin(11)|upper_aerodigestive_tract(7)|urinary_tract(2) 148 Lung NSC(96;1.04e-07)|Prostate(109;0.00384)|Breast(139;0.00396)|Lung SC(185;0.0565)|Hepatocellular(188;0.114) all cancers(112;3.32e-07)|Epithelial(112;1.66e-05)|OV - Ovarian serous cystadenocarcinoma(117;0.00154)|BRCA - Breast invasive adenocarcinoma(63;0.00631)|GBM - Glioblastoma multiforme(144;0.0312) TGACGCGCCCGGAGGGGCAGT 0.667000 5 15 0 0 1 0 0 C16orf3 750 broad.mit.edu 37 16 90095621 90095621 + Missense_Mutation SNP C C T TCGA-CN-A63Y-01A-11D-A30E-08 TCGA-CN-A63Y-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1573766d-cd60-4498-bdad-dcb8d6bc88c8 8582b1ee-b97e-42ab-be9f-5d3899704723 g.chr16:90095621C>T ENST00000408886.2 - 1 688 c.130G>A c.(130-132)Gta>Ata p.V44I GAS8_ENST00000540721.1_Intron|GAS8_ENST00000536122.1_Intron|GAS8_ENST00000268699.4_Intron NM_001214.3 NP_001205.3 O95177 CP003_HUMAN chromosome 16 open reading frame 3 44 large_intestine(1)|lung(2)|prostate(1) 4 all_cancers(9;9.01e-08)|Hepatocellular(780;0.000325)|Lung NSC(15;0.0104)|all_lung(18;0.0239) BRCA - Breast invasive adenocarcinoma(80;0.0272) gggcaggctacggggcaggcC 0.672000 16 44 0 0 1 0 0 OOEP 441161 broad.mit.edu 37 6 74078584 74078584 + Missense_Mutation SNP C C T TCGA-CN-A63Y-01A-11D-A30E-08 TCGA-CN-A63Y-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1573766d-cd60-4498-bdad-dcb8d6bc88c8 8582b1ee-b97e-42ab-be9f-5d3899704723 g.chr6:74078584C>T ENST00000370363.1 - 4 700 c.208G>A c.(208-210)Gag>Aag p.E70K OOEP_ENST00000370359.5_Missense_Mutation_p.E125K A6NGQ2 OOEP_HUMAN oocyte expressed protein 125 KH; atypical. cytoplasm large_intestine(2)|lung(4)|prostate(1)|upper_aerodigestive_tract(1) 8 TTCATCTTCTCAGCTGGAAGA 0.483000 7 31 0 0 1 0 0 CATSPER2P1 440278 broad.mit.edu 37 15 44037259 44037259 + RNA SNP C C G TCGA-CN-A63Y-01A-11D-A30E-08 TCGA-CN-A63Y-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1573766d-cd60-4498-bdad-dcb8d6bc88c8 8582b1ee-b97e-42ab-be9f-5d3899704723 g.chr15:44037259C>G ENST00000381680.2 - 0 364 NR_002318.2 CAGCTTGGCTCAAGCCTTGCA 0.463000 27 105 0 0 1 0 0 HLA-B 3106 broad.mit.edu 37 6 31323370 31323370 + Splice_Site SNP C C T TCGA-CN-A63Y-01A-11D-A30E-08 TCGA-CN-A63Y-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1573766d-cd60-4498-bdad-dcb8d6bc88c8 8582b1ee-b97e-42ab-be9f-5d3899704723 g.chr6:31323370C>T ENST00000412585.2 - 4 648 c.e4-1 NM_005514.6 NP_005505.2 major histocompatibility complex, class I, B endometrium(4)|haematopoietic_and_lymphoid_tissue(4)|kidney(8)|large_intestine(4)|lung(4)|prostate(1)|upper_aerodigestive_tract(2) 27 TTTGGGGGGTCTGATGGGAAG 0.577000 Melanoma, Familial Clustering of;Lichen Sclerosis et Atrophicus, Familial Clustering of 34 145 0 0 1 0 0 ZBTB26 57684 broad.mit.edu 37 9 125682207 125682207 + Missense_Mutation SNP C C G TCGA-CN-A63Y-01A-11D-A30E-08 TCGA-CN-A63Y-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1573766d-cd60-4498-bdad-dcb8d6bc88c8 8582b1ee-b97e-42ab-be9f-5d3899704723 g.chr9:125682207C>G ENST00000373656.3 - 2 80 c.7G>C c.(7-9)Gaa>Caa p.E3Q ZBTB26_ENST00000373654.1_Missense_Mutation_p.E3Q NM_020924.2 NP_065975.1 Q9HCK0 ZBT26_HUMAN zinc finger and BTB domain containing 26 3 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding central_nervous_system(1)|endometrium(1)|large_intestine(4)|lung(4)|prostate(1) 11 TCTGATCTTTCAGACATTTTG 0.303000 4 24 0 0 1 0 0 IGSF10 285313 broad.mit.edu 37 3 151162905 151162905 + Missense_Mutation SNP C C G TCGA-CN-A63Y-01A-11D-A30E-08 TCGA-CN-A63Y-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1573766d-cd60-4498-bdad-dcb8d6bc88c8 8582b1ee-b97e-42ab-be9f-5d3899704723 g.chr3:151162905C>G ENST00000282466.3 - 4 4863 c.4864G>C c.(4864-4866)Gat>Cat p.D1622H NM_001178145.1|NM_001178146.1|NM_178822.4 NP_001171616.1|NP_001171617.1|NP_849144.2 Q6WRI0 IGS10_HUMAN immunoglobulin superfamily, member 10 1622 cell differentiation|multicellular organismal development|ossification extracellular region NS(1)|breast(1)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(24)|liver(4)|lung(43)|ovary(8)|prostate(4)|skin(9)|stomach(1)|urinary_tract(3) 116 LUSC - Lung squamous cell carcinoma(72;0.0394)|Lung(72;0.0517) GGTTTCTTATCAAAGTCACTC 0.433000 17 107 0 0 1 0 0 TAS1R2 80834 broad.mit.edu 37 1 19180755 19180755 + Silent SNP G G A TCGA-CN-A63Y-01A-11D-A30E-08 TCGA-CN-A63Y-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1573766d-cd60-4498-bdad-dcb8d6bc88c8 8582b1ee-b97e-42ab-be9f-5d3899704723 g.chr1:19180755G>A ENST00000375371.3 - 3 1230 c.1209C>T c.(1207-1209)ctC>ctT p.L403L RP13-279N23.2_ENST00000494072.3_3'UTR NM_152232.2 NP_689418.2 Q8TE23 TS1R2_HUMAN taste receptor, type 1, member 2 403 detection of chemical stimulus involved in sensory perception of sweet taste plasma membrane protein heterodimerization activity|taste receptor activity NS(1)|breast(1)|central_nervous_system(1)|endometrium(5)|kidney(4)|large_intestine(10)|lung(14)|ovary(1)|pancreas(3)|prostate(1)|skin(3)|stomach(1) 45 Colorectal(325;3.46e-05)|all_lung(284;0.000321)|Lung NSC(340;0.000398)|Renal(390;0.000518)|Breast(348;0.000812)|Ovarian(437;0.00764)|Myeloproliferative disorder(586;0.0255) UCEC - Uterine corpus endometrioid carcinoma (279;0.00466)|BRCA - Breast invasive adenocarcinoma(304;3.56e-05)|Kidney(64;0.000177)|KIRC - Kidney renal clear cell carcinoma(64;0.00262)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649) Aspartame(DB00168) TGTCACAGCCGAGGAGGCTGT 0.612000 5 28 0 0 1 0 0 OR9A2 135924 broad.mit.edu 37 7 142724130 142724130 + Silent SNP G G A TCGA-CN-A63Y-01A-11D-A30E-08 TCGA-CN-A63Y-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1573766d-cd60-4498-bdad-dcb8d6bc88c8 8582b1ee-b97e-42ab-be9f-5d3899704723 g.chr7:142724130G>A ENST00000350513.2 - 1 152 c.90C>T c.(88-90)ttC>ttT p.F30F NM_001001658.1 NP_001001658.1 Q8NGT5 OR9A2_HUMAN olfactory receptor, family 9, subfamily A, member 2 30 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity central_nervous_system(3)|endometrium(4)|large_intestine(1)|lung(14)|skin(3) 25 Melanoma(164;0.059) AGAAGAAAAAGAATATAGCAA 0.433000 21 92 0 0 1 0 0 PCDHA3 56145 broad.mit.edu 37 5 140182393 140182393 + Silent SNP G G A TCGA-CN-A63Y-01A-11D-A30E-08 TCGA-CN-A63Y-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1573766d-cd60-4498-bdad-dcb8d6bc88c8 8582b1ee-b97e-42ab-be9f-5d3899704723 g.chr5:140182393G>A ENST00000522353.2 + 1 1611 c.1611G>A c.(1609-1611)gcG>gcA p.A537A PCDHA1_ENST00000504120.2_Intron|PCDHA1_ENST00000394633.3_Intron|PCDHA2_ENST00000526136.1_Intron|PCDHA3_ENST00000532566.2_Silent_p.A537A|PCDHA2_ENST00000520672.2_Intron NM_018906.2 NP_061729.1 NS(1)|breast(1)|endometrium(16)|kidney(3)|large_intestine(19)|lung(36)|ovary(7)|prostate(8)|skin(3)|stomach(1) 95 KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191) AGGTGAGTGCGCGCGATGCGG 0.667000 58 189 0 0 1 0 0 COG4 25839 broad.mit.edu 37 16 70557288 70557288 + Silent SNP G G C TCGA-CN-A63Y-01A-11D-A30E-08 TCGA-CN-A63Y-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1573766d-cd60-4498-bdad-dcb8d6bc88c8 8582b1ee-b97e-42ab-be9f-5d3899704723 g.chr16:70557288G>C ENST00000323786.5 - 1 180 c.159C>G c.(157-159)ctC>ctG p.L53L COG4_ENST00000393612.4_Silent_p.L49L|COG4_ENST00000564653.1_Silent_p.L53L NM_001195139.1|NM_015386.2 NP_001182068.1|NP_056201.2 Q9H9E3 COG4_HUMAN component of oligomeric golgi complex 4 49 Interacts with SCFD1. Golgi organization|Golgi vesicle prefusion complex stabilization|protein transport|retrograde vesicle-mediated transport, Golgi to ER Golgi membrane|Golgi transport complex protein binding breast(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(8)|lung(12)|pancreas(1)|prostate(2) 33 Ovarian(137;0.0694) CCTCGCCGCAGAGCCGTTCGT 0.617000 18 79 0 0 1 0 0 BSND 7809 broad.mit.edu 37 1 55472860 55472860 + Missense_Mutation SNP C C G TCGA-CN-A63Y-01A-11D-A30E-08 TCGA-CN-A63Y-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1573766d-cd60-4498-bdad-dcb8d6bc88c8 8582b1ee-b97e-42ab-be9f-5d3899704723 g.chr1:55472860C>G ENST00000371265.4 + 3 717 c.463C>G c.(463-465)Cag>Gag p.Q155E NM_057176.2 NP_476517.1 Q8WZ55 BSND_HUMAN Bartter syndrome, infantile, with sensorineural deafness (Barttin) 155 basolateral plasma membrane|cytoplasm|integral to plasma membrane|protein complex cervix(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(9)|ovary(2)|skin(1)|upper_aerodigestive_tract(1) 17 TGGCGACGTTCAGGCCTGGAT 0.622000 14 95 0 0 1 0 0 NAA15 80155 broad.mit.edu 37 4 140272760 140272760 + Nonsense_Mutation SNP G G T TCGA-CN-A63Y-01A-11D-A30E-08 TCGA-CN-A63Y-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1573766d-cd60-4498-bdad-dcb8d6bc88c8 8582b1ee-b97e-42ab-be9f-5d3899704723 g.chr4:140272760G>T ENST00000296543.5 + 9 1332 c.1009G>T c.(1009-1011)Gaa>Taa p.E337* NAA15_ENST00000480277.2_3'UTR|NAA15_ENST00000398947.1_Nonsense_Mutation_p.E337* NM_057175.3 NP_476516.1 Q9BXJ9 NAA15_HUMAN N(alpha)-acetyltransferase 15, NatA auxiliary subunit 337 angiogenesis|cell differentiation|N-terminal protein amino acid acetylation|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent cytoplasm|transcription factor complex protein binding NS(1)|endometrium(3)|large_intestine(7)|liver(2)|lung(8)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2) 29 CAAAGACAAAGAAAAGGTAAA 0.338000 20 68 7.45023e-12 7.76065e-12 1 1 0 FAM129B 64855 broad.mit.edu 37 9 130270248 130270248 + Missense_Mutation SNP G G A TCGA-CN-A63Y-01A-11D-A30E-08 TCGA-CN-A63Y-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1573766d-cd60-4498-bdad-dcb8d6bc88c8 8582b1ee-b97e-42ab-be9f-5d3899704723 g.chr9:130270248G>A ENST00000373312.3 - 13 1765 c.1552C>T c.(1552-1554)Cgg>Tgg p.R518W FAM129B_ENST00000373314.3_Missense_Mutation_p.R505W|FAM129B_ENST00000468379.1_Intron NM_022833.2 NP_073744.2 Q96TA1 NIBL1_HUMAN family with sequence similarity 129, member B 518 protein binding breast(2)|endometrium(4)|kidney(1)|large_intestine(5)|liver(1)|lung(7)|skin(1)|stomach(2)|upper_aerodigestive_tract(2) 25 TCCTGGAACCGGGGCAGCTCC 0.622000 4 124 0 0 1 0 0 SHMT2 6472 broad.mit.edu 37 12 57626558 57626558 + Silent SNP G G A TCGA-CN-A63Y-01A-11D-A30E-08 TCGA-CN-A63Y-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1573766d-cd60-4498-bdad-dcb8d6bc88c8 8582b1ee-b97e-42ab-be9f-5d3899704723 g.chr12:57626558G>A ENST00000328923.3 + 7 1241 c.789G>A c.(787-789)gtG>gtA p.V263V SHMT2_ENST00000449049.3_Silent_p.V242V|SHMT2_ENST00000414700.3_Silent_p.V242V|SHMT2_ENST00000557487.1_Silent_p.V253V|SHMT2_ENST00000393827.4_Silent_p.V167V|SHMT2_ENST00000553474.1_Silent_p.V242V NM_001166356.1|NM_005412.5 NP_001159828.1|NP_005403.2 P34897 GLYM_HUMAN serine hydroxymethyltransferase 2 (mitochondrial) 263 microtubule cytoskeleton|mitochondrial nucleoid glycine hydroxymethyltransferase activity|methyltransferase activity breast(1)|central_nervous_system(1)|large_intestine(4)|liver(2)|lung(3)|ovary(1)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1) 15 Glycine(DB00145)|Pyridoxal Phosphate(DB00114)|Tetrahydrofolic acid(DB00116) CTGCCAAGGTGATTCCCTCGC 0.602000 17 54 0 0 1 0 0 USP34 9736 broad.mit.edu 37 2 61431476 61431476 + Missense_Mutation SNP T T C TCGA-CN-A63Y-01A-11D-A30E-08 TCGA-CN-A63Y-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1573766d-cd60-4498-bdad-dcb8d6bc88c8 8582b1ee-b97e-42ab-be9f-5d3899704723 g.chr2:61431476T>C ENST00000398571.2 - 74 9375 c.9299A>G c.(9298-9300)aAg>aGg p.K3100R NM_014709.3 NP_055524.3 Q70CQ2 UBP34_HUMAN ubiquitin specific peptidase 34 3100 positive regulation of canonical Wnt receptor signaling pathway|protein K48-linked deubiquitination|ubiquitin-dependent protein catabolic process|Wnt receptor signaling pathway cysteine-type endopeptidase activity|protein binding|ubiquitin thiolesterase activity|ubiquitin-specific protease activity autonomic_ganglia(1)|breast(14)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(24)|lung(52)|ovary(8)|prostate(10)|skin(6)|urinary_tract(2) 138 Epithelial(17;0.229) TCCTATTAGCTTGATATTTTC 0.413000 12 69 0 0 1 0 0 SMO 6608 broad.mit.edu 37 7 128851608 128851608 + Missense_Mutation SNP C C A TCGA-CN-A63Y-01A-11D-A30E-08 TCGA-CN-A63Y-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1573766d-cd60-4498-bdad-dcb8d6bc88c8 8582b1ee-b97e-42ab-be9f-5d3899704723 g.chr7:128851608C>A ENST00000249373.3 + 11 2213 c.1933C>A c.(1933-1935)Cca>Aca p.P645T RP11-286H14.8_ENST00000466717.1_RNA NM_005631.4 NP_005622.1 Q99835 SMO_HUMAN smoothened, frizzled family receptor 645 adenohypophysis development|axon extension involved in axon guidance|canonical Wnt receptor signaling pathway|cardioblast differentiation|central nervous system neuron differentiation|cerebellar cortex morphogenesis|ciliary receptor clustering involved in smoothened signaling pathway|determination of left/right symmetry|dorsal/ventral neural tube patterning|embryonic camera-type eye development|embryonic digestive tract morphogenesis|embryonic neurocranium morphogenesis|embryonic viscerocranium morphogenesis|exocrine pancreas development|facial nerve development|floor plate formation|gonad development|heart morphogenesis|muscle cell fate commitment|negative regulation of apoptosis|neural crest cell migration|neuron fate commitment|neuron projection regeneration|odontogenesis of dentine-containing tooth|osteoblast differentiation|otolith morphogenesis|positive regulation of epithelial cell proliferation|positive regulation of mesenchymal cell proliferation|positive regulation of neuroblast proliferation|positive regulation of smoothened signaling pathway|semicircular canal morphogenesis|smoothened signaling pathway involved in regulation of cerebellar granule cell precursor cell proliferation|smoothened signaling pathway involved in ventral spinal cord patterning|spermatogenesis|vasculogenesis cilium|cytoplasm|integral to membrane|neuronal cell body|plasma membrane G-protein coupled receptor activity|PDZ domain binding|Wnt receptor activity|Wnt-protein binding biliary_tract(1)|central_nervous_system(5)|endometrium(1)|kidney(4)|large_intestine(14)|liver(1)|lung(11)|pancreas(2)|prostate(1)|skin(20)|upper_aerodigestive_tract(3)|urinary_tract(1) 64 TGTGGCAACTCCAGGTATGAG 0.597000 Mis skin basal cell 12 54 7.03913e-09 7.2419e-09 1 1 0 EXOC6B 23233 broad.mit.edu 37 2 72968471 72968471 + Missense_Mutation SNP C C G TCGA-CN-A63Y-01A-11D-A30E-08 TCGA-CN-A63Y-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1573766d-cd60-4498-bdad-dcb8d6bc88c8 8582b1ee-b97e-42ab-be9f-5d3899704723 g.chr2:72968471C>G ENST00000272427.6 - 2 371 c.241G>C c.(241-243)Gaa>Caa p.E81Q EXOC6B_ENST00000410104.1_Missense_Mutation_p.E81Q NM_015189.1 NP_056004.1 Q9Y2D4 EXC6B_HUMAN exocyst complex component 6B 81 protein transport|vesicle docking involved in exocytosis exocyst breast(1)|central_nervous_system(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(3) 10 TTCAGCAGTTCAGTTATAGAG 0.418000 32 144 0 0 1 0 0 PSG4 5672 broad.mit.edu 37 19 43699264 43699264 + Missense_Mutation SNP C C T TCGA-CN-A63Y-01A-11D-A30E-08 TCGA-CN-A63Y-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1573766d-cd60-4498-bdad-dcb8d6bc88c8 8582b1ee-b97e-42ab-be9f-5d3899704723 g.chr19:43699264C>T ENST00000405312.3 - 4 1108 c.871G>A c.(871-873)Gaa>Aaa p.E291K PSG4_ENST00000244295.9_Intron|PSG4_ENST00000433626.2_Missense_Mutation_p.E198K NM_002780.3 NP_002771.2 Q00888 PSG4_HUMAN pregnancy specific beta-1-glycoprotein 4 291 Ig-like C2-type 2. defense response|female pregnancy extracellular region central_nervous_system(1)|endometrium(2)|large_intestine(8)|lung(10)|ovary(1)|pancreas(1)|upper_aerodigestive_tract(1) 24 Prostate(69;0.00682) ATCCTGTTTTCAATGGGTCGC 0.473000 55 306 0 0 1 0 0 NTNG2 84628 broad.mit.edu 37 9 135102294 135102294 + Missense_Mutation SNP G G A TCGA-CN-A63Y-01A-11D-A30E-08 TCGA-CN-A63Y-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1573766d-cd60-4498-bdad-dcb8d6bc88c8 8582b1ee-b97e-42ab-be9f-5d3899704723 g.chr9:135102294G>A ENST00000393229.3 + 4 1692 c.916G>A c.(916-918)Gag>Aag p.E306K NTNG2_ENST00000393228.4_Missense_Mutation_p.E306K|NTNG2_ENST00000372179.3_Missense_Mutation_p.E306K|NTNG2_ENST00000360670.3_Missense_Mutation_p.E306K NM_032536.2 NP_115925.2 Q96CW9 NTNG2_HUMAN netrin G2 306 Laminin EGF-like 1. axonogenesis anchored to plasma membrane central_nervous_system(2)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(10)|ovary(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(2) 29 OV - Ovarian serous cystadenocarcinoma(145;1.23e-05)|Epithelial(140;0.000173) CCTGCAGTGCGAGTGCGAGCA 0.657000 7 18 0 0 1 0 0 DEAF1 10522 broad.mit.edu 37 11 687913 687913 + Nonsense_Mutation SNP G G C TCGA-CN-A63Y-01A-11D-A30E-08 TCGA-CN-A63Y-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1573766d-cd60-4498-bdad-dcb8d6bc88c8 8582b1ee-b97e-42ab-be9f-5d3899704723 g.chr11:687913G>C ENST00000382409.3 - 4 1146 c.662C>G c.(661-663)tCa>tGa p.S221* DEAF1_ENST00000338675.6_Nonsense_Mutation_p.S221* NM_021008.2 NP_066288.2 O75398 DEAF1_HUMAN DEAF1 transcription factor 221 SAND. embryonic skeletal system development|germ cell development|neural tube closure|regulation of mammary gland epithelial cell proliferation|regulation of transcription, DNA-dependent|transcription from RNA polymerase II promoter cytoplasm|extracellular region|nucleus protein binding|zinc ion binding breast(2)|endometrium(3)|kidney(1)|large_intestine(4)|lung(11)|prostate(2)|upper_aerodigestive_tract(1) 24 all_cancers(49;1.24e-08)|all_epithelial(84;1.87e-05)|Breast(177;0.000286)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.106)|all_lung(207;0.136) all cancers(45;1.76e-27)|Epithelial(43;8.42e-27)|OV - Ovarian serous cystadenocarcinoma(40;6.55e-21)|BRCA - Breast invasive adenocarcinoma(625;4.83e-05)|Lung(200;0.0259)|LUSC - Lung squamous cell carcinoma(625;0.075) GTCCTCACCTGAGCCGAGCCT 0.517000 10 51 0 0 1 0 0 DNAJB11 51726 broad.mit.edu 37 3 186302284 186302284 + Silent SNP C C T TCGA-CN-A63Y-01A-11D-A30E-08 TCGA-CN-A63Y-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1573766d-cd60-4498-bdad-dcb8d6bc88c8 8582b1ee-b97e-42ab-be9f-5d3899704723 g.chr3:186302284C>T ENST00000439351.1 + 10 1847 c.918C>T c.(916-918)ctC>ctT p.L306L DNAJB11_ENST00000265028.3_Silent_p.L306L Q9UBS4 DJB11_HUMAN DnaJ (Hsp40) homolog, subfamily B, member 11 306 protein folding endoplasmic reticulum lumen heat shock protein binding breast(1)|central_nervous_system(1)|kidney(2)|large_intestine(2)|lung(5)|ovary(1)|prostate(1)|urinary_tract(2) 15 all_cancers(143;2.84e-12)|Ovarian(172;0.0339) OV - Ovarian serous cystadenocarcinoma(80;1.44e-20) GBM - Glioblastoma multiforme(93;0.0476) GGGAAGGGCTCCCCAACTTTG 0.453000 5 65 0 0 1 0 0 GUCY1A3 2982 broad.mit.edu 37 4 156632234 156632234 + Missense_Mutation SNP G G A TCGA-CN-A63Y-01A-11D-A30E-08 TCGA-CN-A63Y-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1573766d-cd60-4498-bdad-dcb8d6bc88c8 8582b1ee-b97e-42ab-be9f-5d3899704723 g.chr4:156632234G>A ENST00000296518.7 + 6 1126 c.917G>A c.(916-918)aGa>aAa p.R306K GUCY1A3_ENST00000513574.1_Missense_Mutation_p.R306K|GUCY1A3_ENST00000455639.2_Missense_Mutation_p.R306K|GUCY1A3_ENST00000506455.1_Missense_Mutation_p.R306K|GUCY1A3_ENST00000511507.1_Missense_Mutation_p.R306K|GUCY1A3_ENST00000393832.3_Missense_Mutation_p.R48K|GUCY1A3_ENST00000511108.1_Missense_Mutation_p.R306K Q02108 GCYA3_HUMAN guanylate cyclase 1, soluble, alpha 3 306 blood circulation|intracellular signal transduction|nitric oxide mediated signal transduction|platelet activation guanylate cyclase complex, soluble GTP binding|guanylate cyclase activity|heme binding|receptor activity central_nervous_system(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(25)|liver(2)|lung(19)|ovary(1)|pancreas(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1) 64 all_hematologic(180;0.24) Renal(120;0.0854) COAD - Colon adenocarcinoma(41;0.17) AATGGCATCAGAAGGCTGATG 0.403000 17 61 0 0 1 0 0 OR2M7 391196 broad.mit.edu 37 1 248487009 248487009 + Missense_Mutation SNP G G C TCGA-CN-A63Y-01A-11D-A30E-08 TCGA-CN-A63Y-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1573766d-cd60-4498-bdad-dcb8d6bc88c8 8582b1ee-b97e-42ab-be9f-5d3899704723 g.chr1:248487009G>C ENST00000317965.2 - 1 890 c.862C>G c.(862-864)Ctc>Gtc p.L288V NM_001004691.1 NP_001004691.1 Q8NG81 OR2M7_HUMAN olfactory receptor, family 2, subfamily M, member 7 288 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity breast(1)|endometrium(6)|large_intestine(3)|lung(29)|skin(3) 42 all_cancers(71;0.000108)|all_epithelial(71;1.03e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136) OV - Ovarian serous cystadenocarcinoma(106;0.0265) CTATAAATGAGAGGATTCAGC 0.423000 22 69 0 0 1 0 0 SCAF8 22828 broad.mit.edu 37 6 155143453 155143453 + Silent SNP C C T TCGA-CN-A63Y-01A-11D-A30E-08 TCGA-CN-A63Y-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1573766d-cd60-4498-bdad-dcb8d6bc88c8 8582b1ee-b97e-42ab-be9f-5d3899704723 g.chr6:155143453C>T ENST00000367178.3 + 16 2412 c.1836C>T c.(1834-1836)gtC>gtT p.V612V SCAF8_ENST00000367186.4_Silent_p.V678V|SCAF8_ENST00000417268.1_Silent_p.V612V NM_014892.3 NP_055707.3 Q9UPN6 SCAF8_HUMAN SR-related CTD-associated factor 8 612 mRNA processing|RNA splicing nuclear matrix|spliceosomal complex nucleotide binding|RNA binding|RNA polymerase core enzyme binding breast(4)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(14)|lung(15)|ovary(1)|prostate(3)|upper_aerodigestive_tract(1) 46 AAGAGACGGTCCAGACAACTC 0.433000 5 110 0 0 1 0 0 RHPN2 85415 broad.mit.edu 37 19 33482768 33482768 + Silent SNP G G A TCGA-CN-A63Y-01A-11D-A30E-08 TCGA-CN-A63Y-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1573766d-cd60-4498-bdad-dcb8d6bc88c8 8582b1ee-b97e-42ab-be9f-5d3899704723 g.chr19:33482768G>A ENST00000254260.3 - 13 1640 c.1605C>T c.(1603-1605)ccC>ccT p.P535P RHPN2_ENST00000400226.4_Silent_p.P384P NM_033103.4 NP_149094.3 Q8IUC4 RHPN2_HUMAN rhophilin, Rho GTPase binding protein 2 535 PDZ. signal transduction perinuclear region of cytoplasm protein binding NS(1)|breast(3)|central_nervous_system(5)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(7)|ovary(1)|prostate(3)|skin(3)|urinary_tract(1) 44 Esophageal squamous(110;0.137) GAACCTGAACGGGGGCGTTCC 0.517000 13 58 0 0 1 0 0 ATP2B2 491 broad.mit.edu 37 3 10420934 10420934 + Missense_Mutation SNP C C G TCGA-CN-A63Y-01A-11D-A30E-08 TCGA-CN-A63Y-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1573766d-cd60-4498-bdad-dcb8d6bc88c8 8582b1ee-b97e-42ab-be9f-5d3899704723 g.chr3:10420934C>G ENST00000360273.2 - 9 1473 c.1035G>C c.(1033-1035)caG>caC p.Q345H ATP2B2_ENST00000352432.4_Missense_Mutation_p.Q345H|ATP2B2_ENST00000343816.4_Intron|ATP2B2_ENST00000397077.1_Intron|ATP2B2_ENST00000383800.4_Intron NM_001001331.2 NP_001001331.1 Q01814 AT2B2_HUMAN ATPase, Ca++ transporting, plasma membrane 2 345 ATP biosynthetic process|cytosolic calcium ion homeostasis|platelet activation cytosol|integral to membrane|plasma membrane ATP binding|calcium ion binding|calcium-transporting ATPase activity|calmodulin binding|metal ion binding|PDZ domain binding|protein C-terminus binding breast(1)|central_nervous_system(2)|cervix(1)|endometrium(7)|large_intestine(19)|lung(29)|ovary(5)|prostate(2)|skin(4)|stomach(2)|urinary_tract(2) 74 TACCTTTGCTCTGGCTGGCGT 0.522000 11 17 0 0 1 0 0 WHSC1 7468 broad.mit.edu 37 4 1941403 1941403 + Silent SNP A A G TCGA-CN-A63Y-01A-11D-A30E-08 TCGA-CN-A63Y-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1573766d-cd60-4498-bdad-dcb8d6bc88c8 8582b1ee-b97e-42ab-be9f-5d3899704723 g.chr4:1941403A>G ENST00000503128.1 + 9 1986 c.1779A>G c.(1777-1779)gcA>gcG p.A593A WHSC1_ENST00000482415.2_3'UTR|WHSC1_ENST00000508803.1_Silent_p.A593A|WHSC1_ENST00000514045.1_Silent_p.A593A|WHSC1_ENST00000382895.3_Silent_p.A593A|WHSC1_ENST00000398261.1_Silent_p.A593A|WHSC1_ENST00000382892.2_Silent_p.A593A|WHSC1_ENST00000382891.5_Silent_p.A593A|WHSC1_ENST00000420906.2_Silent_p.A593A O96028 NSD2_HUMAN Wolf-Hirschhorn syndrome candidate 1 593 anatomical structure morphogenesis|regulation of transcription, DNA-dependent|transcription, DNA-dependent chromosome|cytoplasm|nuclear membrane|nucleolus DNA binding|histone-lysine N-methyltransferase activity|zinc ion binding breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(10)|lung(14)|ovary(4)|pancreas(1)|prostate(3)|skin(4)|urinary_tract(3) 48 all_epithelial(65;1.34e-05) OV - Ovarian serous cystadenocarcinoma(23;0.00606) STAD - Stomach adenocarcinoma(129;0.232) TGTCTGATGCATGTAAACCAC 0.378000 T IGH@ MM 10 48 0 0 1 0 0 KBTBD8 84541 broad.mit.edu 37 3 67049505 67049505 + Silent SNP C C G TCGA-CN-A63Y-01A-11D-A30E-08 TCGA-CN-A63Y-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1573766d-cd60-4498-bdad-dcb8d6bc88c8 8582b1ee-b97e-42ab-be9f-5d3899704723 g.chr3:67049505C>G ENST00000295568.4 + 2 170 c.39C>G c.(37-39)ctC>ctG p.L13L KBTBD8_ENST00000460576.1_Intron|KBTBD8_ENST00000417314.2_Silent_p.L39L|KBTBD8_ENST00000469661.1_3'UTR NM_032505.2 NP_115894.2 Q8NFY9 KBTB8_HUMAN kelch repeat and BTB (POZ) domain containing 8 39 breast(1)|endometrium(1)|kidney(4)|large_intestine(7)|lung(4)|ovary(2)|prostate(1) 20 Lung NSC(201;0.0765) BRCA - Breast invasive adenocarcinoma(55;6.02e-06)|KIRC - Kidney renal clear cell carcinoma(39;0.105)|Kidney(39;0.125) TTAAGCAACTCAAAACAATGT 0.453000 10 40 0 0 1 0 0 KLHL1 57626 broad.mit.edu 37 13 70514196 70514196 + Missense_Mutation SNP C C T TCGA-CN-A63Y-01A-11D-A30E-08 TCGA-CN-A63Y-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1573766d-cd60-4498-bdad-dcb8d6bc88c8 8582b1ee-b97e-42ab-be9f-5d3899704723 g.chr13:70514196C>T ENST00000377844.4 - 4 1749 c.990G>A c.(988-990)atG>atA p.M330I KLHL1_ENST00000545028.1_Missense_Mutation_p.M137I NM_020866.2 NP_065917.1 Q9NR64 KLHL1_HUMAN kelch-like family member 1 330 actin cytoskeleton organization cytoplasm|cytoskeleton actin binding p.M330I(1) breast(1)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(11)|lung(56)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(4)|urinary_tract(1) 84 Breast(118;0.000162) COAD - Colon adenocarcinoma(199;0.000193)|GBM - Glioblastoma multiforme(99;0.000211) GGGCCACCTTCATTAACTCAA 0.413000 7 34 0 0 1 0 0 LACRT 90070 broad.mit.edu 37 12 55026033 55026033 + Missense_Mutation SNP T T C TCGA-CN-A63Y-01A-11D-A30E-08 TCGA-CN-A63Y-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1573766d-cd60-4498-bdad-dcb8d6bc88c8 8582b1ee-b97e-42ab-be9f-5d3899704723 g.chr12:55026033T>C ENST00000257867.4 - 3 298 c.245A>G c.(244-246)aAc>aGc p.N82S LACRT_ENST00000547511.1_Missense_Mutation_p.N82S NM_033277.1 NP_150593.1 Q9GZZ8 LACRT_HUMAN lacritin 82 calcineurin-NFAT signaling pathway|positive regulation of epithelial cell proliferation|positive regulation of NFAT protein import into nucleus|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of release of sequestered calcium ion into cytosol|positive regulation of secretion|protein localization in Golgi apparatus|tear secretion extracellular region|stored secretory granule collagen binding|fibronectin binding|glycoprotein binding|growth factor activity|laminin-1 binding|protein N-terminus binding breast(1)|central_nervous_system(1)|kidney(2)|large_intestine(1)|lung(4)|stomach(1) 10 ACTCAGGGGGTTTAGTTCCTG 0.557000 21 75 0 0 1 0 0 DZIP1 22873 broad.mit.edu 37 13 96242575 96242575 + Missense_Mutation SNP G G C TCGA-CN-A63Y-01A-11D-A30E-08 TCGA-CN-A63Y-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1573766d-cd60-4498-bdad-dcb8d6bc88c8 8582b1ee-b97e-42ab-be9f-5d3899704723 g.chr13:96242575G>C ENST00000347108.3 - 15 2233 c.1801C>G c.(1801-1803)Caa>Gaa p.Q601E DZIP1_ENST00000361396.2_Missense_Mutation_p.Q582E|DZIP1_ENST00000376829.2_Missense_Mutation_p.Q601E|DZIP1_ENST00000361156.3_Missense_Mutation_p.Q582E Q86YF9 DZIP1_HUMAN DAZ interacting zinc finger protein 1 601 germ cell development|multicellular organismal development|spermatogenesis cytoplasm|nucleus nucleic acid binding|protein binding|zinc ion binding endometrium(1)|kidney(1)|large_intestine(20)|lung(11)|ovary(2)|pancreas(1)|skin(1)|stomach(1) 38 all_neural(89;0.0878)|Breast(111;0.148)|Medulloblastoma(90;0.163) BRCA - Breast invasive adenocarcinoma(86;0.141) CAGCTGACTTGATGTTCAAGG 0.348000 17 99 0 0 1 0 0 SLC32A1 140679 broad.mit.edu 37 20 37356388 37356388 + Silent SNP C C T TCGA-CN-A63Y-01A-11D-A30E-08 TCGA-CN-A63Y-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1573766d-cd60-4498-bdad-dcb8d6bc88c8 8582b1ee-b97e-42ab-be9f-5d3899704723 g.chr20:37356388C>T ENST00000217420.1 + 2 947 c.684C>T c.(682-684)ctC>ctT p.L228L NM_080552.2 NP_542119.1 Q9H598 VIAAT_HUMAN solute carrier family 32 (GABA vesicular transporter), member 1 228 neurotransmitter secretion clathrin sculpted gamma-aminobutyric acid transport vesicle membrane|integral to membrane|plasma membrane|synaptic vesicle membrane vesicular hydrogen:amino acid antiporter activity breast(2)|cervix(1)|endometrium(6)|kidney(1)|large_intestine(11)|lung(16)|urinary_tract(1) 38 Myeloproliferative disorder(115;0.00878) Glycine(DB00145) GTGGCAACCTCATGTACAACA 0.617000 16 50 0 0 1 0 0 FOXG1 2290 broad.mit.edu 37 14 29237845 29237845 + Missense_Mutation SNP G G C TCGA-CN-A63Y-01A-11D-A30E-08 TCGA-CN-A63Y-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1573766d-cd60-4498-bdad-dcb8d6bc88c8 8582b1ee-b97e-42ab-be9f-5d3899704723 g.chr14:29237845G>C ENST00000382535.3 + 2 1729 c.1360G>C c.(1360-1362)Gag>Cag p.E454Q FOXG1_ENST00000313071.4_Missense_Mutation_p.E454Q P55316 FOXG1_HUMAN forkhead box G1 454 axon midline choice point recognition|central nervous system neuron development|dorsal/ventral pattern formation|embryo development ending in birth or egg hatching|hindbrain development|inner ear morphogenesis|negative regulation of neuron differentiation|negative regulation of transcription, DNA-dependent|nonmotile primary cilium assembly|nose development|positive regulation of cell cycle|positive regulation of neuroblast proliferation|positive regulation of transcription from RNA polymerase II promoter|regulation of mitotic cell cycle|regulation of sequence-specific DNA binding transcription factor activity|tissue development transcription factor complex DNA bending activity|double-stranded DNA binding|promoter binding|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|specific RNA polymerase II transcription factor activity|specific transcriptional repressor activity|transcription activator activity|transcription factor binding breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(9)|lung(23)|ovary(2)|pancreas(1)|prostate(1)|skin(1)|urinary_tract(2) 43 LUAD - Lung adenocarcinoma(48;0.011)|Lung(238;0.0575) GBM - Glioblastoma multiforme(265;0.00413) CCTGCCCTGTGAGTCTTTAAG 0.582000 13 66 0 0 1 0 0 DCBLD1 285761 broad.mit.edu 37 6 117866741 117866741 + Silent SNP C C T TCGA-CN-A63Y-01A-11D-A30E-08 TCGA-CN-A63Y-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1573766d-cd60-4498-bdad-dcb8d6bc88c8 8582b1ee-b97e-42ab-be9f-5d3899704723 g.chr6:117866741C>T ENST00000338728.5 + 14 1716 c.1596C>T c.(1594-1596)ctC>ctT p.L532L DCBLD1_ENST00000296955.8_Silent_p.L532L|DCBLD1_ENST00000534777.1_3'UTR|GOPC_ENST00000467125.1_Intron|DCBLD1_ENST00000368503.4_Silent_p.L333L Q8N8Z6 DCBD1_HUMAN discoidin, CUB and LCCL domain containing 1 532 cell adhesion integral to membrane breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(15)|ovary(1)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1) 26 all_cancers(87;0.171) GBM - Glioblastoma multiforme(226;0.0447)|OV - Ovarian serous cystadenocarcinoma(136;0.0921)|all cancers(137;0.125) AGTTAGATCTCATCACAAGTG 0.428000 29 76 0 0 1 0 0 VPS13B 157680 broad.mit.edu 37 8 100523670 100523670 + Silent SNP G G A TCGA-CN-A63Y-01A-11D-A30E-08 TCGA-CN-A63Y-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1573766d-cd60-4498-bdad-dcb8d6bc88c8 8582b1ee-b97e-42ab-be9f-5d3899704723 g.chr8:100523670G>A ENST00000358544.2 + 29 4749 c.4638G>A c.(4636-4638)ttG>ttA p.L1546L VPS13B_ENST00000395996.1_3'UTR|VPS13B_ENST00000357162.2_Silent_p.L1521L NM_017890.4 NP_060360.3 Q7Z7G8 VP13B_HUMAN vacuolar protein sorting 13 homolog B (yeast) 1546 protein transport NS(1)|autonomic_ganglia(1)|breast(6)|central_nervous_system(4)|cervix(3)|endometrium(11)|haematopoietic_and_lymphoid_tissue(4)|kidney(10)|large_intestine(37)|lung(78)|ovary(8)|pancreas(3)|prostate(5)|skin(9)|upper_aerodigestive_tract(4)|urinary_tract(9) 193 Breast(36;3.73e-07) OV - Ovarian serous cystadenocarcinoma(57;0.00636) ATTTACCTTTGATTTATGTCA 0.358000 9 21 0 0 1 0 0 IGSF10 285313 broad.mit.edu 37 3 151162930 151162930 + Missense_Mutation SNP C C G TCGA-CN-A63Y-01A-11D-A30E-08 TCGA-CN-A63Y-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1573766d-cd60-4498-bdad-dcb8d6bc88c8 8582b1ee-b97e-42ab-be9f-5d3899704723 g.chr3:151162930C>G ENST00000282466.3 - 4 4838 c.4839G>C c.(4837-4839)caG>caC p.Q1613H NM_001178145.1|NM_001178146.1|NM_178822.4 NP_001171616.1|NP_001171617.1|NP_849144.2 Q6WRI0 IGS10_HUMAN immunoglobulin superfamily, member 10 1613 cell differentiation|multicellular organismal development|ossification extracellular region NS(1)|breast(1)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(24)|liver(4)|lung(43)|ovary(8)|prostate(4)|skin(9)|stomach(1)|urinary_tract(3) 116 LUSC - Lung squamous cell carcinoma(72;0.0394)|Lung(72;0.0517) TTGTGTTCTTCTGTCCATCCC 0.413000 26 111 0 0 1 0 0 KNTC1 9735 broad.mit.edu 37 12 123082440 123082440 + Silent SNP G G A TCGA-CN-A63Y-01A-11D-A30E-08 TCGA-CN-A63Y-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1573766d-cd60-4498-bdad-dcb8d6bc88c8 8582b1ee-b97e-42ab-be9f-5d3899704723 g.chr12:123082440G>A ENST00000333479.7 + 44 4695 c.4518G>A c.(4516-4518)acG>acA p.T1506T KNTC1_ENST00000450485.2_Intron|KNTC1_ENST00000545065.1_3'UTR NM_014708.4 NP_055523.1 P50748 KNTC1_HUMAN kinetochore associated 1 1506 T -> M (in dbSNP:rs35315099). cell division|mitotic cell cycle checkpoint|mitotic prometaphase|protein complex assembly|regulation of exit from mitosis condensed chromosome kinetochore|cytosol|kinetochore microtubule|nucleus|spindle pole protein binding breast(1)|central_nervous_system(1)|cervix(2)|endometrium(12)|kidney(8)|large_intestine(12)|lung(20)|ovary(7)|prostate(1)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(4) 72 all_neural(191;0.0837)|Medulloblastoma(191;0.163) OV - Ovarian serous cystadenocarcinoma(86;7.21e-05)|Epithelial(86;0.000178)|BRCA - Breast invasive adenocarcinoma(302;0.217) CTTTACTGACGAGCACAAAAG 0.502000 18 84 0 0 1 0 0 CEP350 9857 broad.mit.edu 37 1 180064688 180064688 + Missense_Mutation SNP G G A TCGA-CN-A63Y-01A-11D-A30E-08 TCGA-CN-A63Y-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1573766d-cd60-4498-bdad-dcb8d6bc88c8 8582b1ee-b97e-42ab-be9f-5d3899704723 g.chr1:180064688G>A ENST00000367607.3 + 35 8960 c.8542G>A c.(8542-8544)Gaa>Aaa p.E2848K CEP350_ENST00000490141.1_3'UTR NM_014810.4 NP_055625.4 Q5VT06 CE350_HUMAN centrosomal protein 350kDa 2848 centrosome|nucleus|spindle central_nervous_system(1)|endometrium(9)|kidney(4)|large_intestine(7)|lung(35)|ovary(4)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(3) 66 CAGTGGGCAGGAAGAACTTGC 0.433000 5 77 0 0 1 0 0 DCAF12 25853 broad.mit.edu 37 9 34107496 34107496 + Missense_Mutation SNP C C G TCGA-CN-A63Y-01A-11D-A30E-08 TCGA-CN-A63Y-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1573766d-cd60-4498-bdad-dcb8d6bc88c8 8582b1ee-b97e-42ab-be9f-5d3899704723 g.chr9:34107496C>G ENST00000361264.4 - 3 742 c.401G>C c.(400-402)gGa>gCa p.G134A DCAF12_ENST00000463286.1_5'UTR NM_015397.3 NP_056212.1 Q5T6F0 DCA12_HUMAN DDB1 and CUL4 associated factor 12 134 centrosome|CUL4 RING ubiquitin ligase complex breast(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(4)|prostate(1) 11 GGTCACACCTCCAGGCTCCCG 0.502000 15 60 0 0 1 0 0 MKL2 57496 broad.mit.edu 37 16 14340402 14340402 + Missense_Mutation SNP C C T TCGA-CN-A63Y-01A-11D-A30E-08 TCGA-CN-A63Y-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1573766d-cd60-4498-bdad-dcb8d6bc88c8 8582b1ee-b97e-42ab-be9f-5d3899704723 g.chr16:14340402C>T ENST00000571589.1 + 12 1457 c.1285C>T c.(1285-1287)Cgc>Tgc p.R429C MKL2_ENST00000341243.5_Missense_Mutation_p.R418C|MKL2_ENST00000574045.1_Missense_Mutation_p.R429C|MKL2_ENST00000318282.5_Missense_Mutation_p.R429C NM_014048.3 NP_054767.3 Q9ULH7 MKL2_HUMAN MKL/myocardin-like 2 418 cell differentiation|muscle organ development|positive regulation of striated muscle tissue development|positive regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent identical protein binding|nucleic acid binding|transcription coactivator activity breast(3)|central_nervous_system(1)|endometrium(5)|kidney(6)|large_intestine(6)|liver(2)|lung(7)|ovary(4)|pancreas(1)|prostate(2)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1) 42 CCTCATTGAGCGCCTAAAACC 0.517000 14 57 0 0 1 0 0 ZNF131 7690 broad.mit.edu 37 5 43139394 43139394 + Missense_Mutation SNP C C G TCGA-CN-A63Y-01A-11D-A30E-08 TCGA-CN-A63Y-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1573766d-cd60-4498-bdad-dcb8d6bc88c8 8582b1ee-b97e-42ab-be9f-5d3899704723 g.chr5:43139394C>G ENST00000509634.1 + 3 810 c.354C>G c.(352-354)atC>atG p.I118M ZNF131_ENST00000399534.1_Missense_Mutation_p.I118M|ZNF131_ENST00000505606.2_Missense_Mutation_p.I118M|ZNF131_ENST00000509931.1_Intron|ZNF131_ENST00000509156.1_Missense_Mutation_p.I118M|ZNF131_ENST00000306938.4_Missense_Mutation_p.I118M P52739 ZN131_HUMAN zinc finger protein 131 118 nucleus DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding breast(2)|endometrium(2)|kidney(1)|lung(9)|ovary(1)|prostate(1)|urinary_tract(1) 17 TAGAAGCTATCAAAGCCCTTG 0.348000 24 80 0 0 1 0 0 NBPF1 55672 broad.mit.edu 37 1 16902807 16902807 + Missense_Mutation SNP C C T TCGA-CN-A63Y-01A-11D-A30E-08 TCGA-CN-A63Y-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1573766d-cd60-4498-bdad-dcb8d6bc88c8 8582b1ee-b97e-42ab-be9f-5d3899704723 g.chr1:16902807C>T ENST00000430580.2 - 19 2961 c.2074G>A c.(2074-2076)Gag>Aag p.E692K NBPF1_ENST00000432949.1_Missense_Mutation_p.E150K|NBPF1_ENST00000287968.8_Missense_Mutation_p.E57K NM_017940.3 NP_060410.2 Q3BBV0 NBPF1_HUMAN neuroblastoma breakpoint family, member 1 692 cytoplasm UCEC - Uterine corpus endometrioid carcinoma (279;0.00459)|BRCA - Breast invasive adenocarcinoma(304;7.52e-06)|COAD - Colon adenocarcinoma(227;1.05e-05)|Kidney(64;0.00016)|KIRC - Kidney renal clear cell carcinoma(64;0.00258)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.179) CTACACCCCTCAGCCAGCTGT 0.577000 28 918 0 0 1 0 0 PCDHA7 56141 broad.mit.edu 37 5 140214112 140214112 + Missense_Mutation SNP C C G TCGA-CN-A63Y-01A-11D-A30E-08 TCGA-CN-A63Y-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1573766d-cd60-4498-bdad-dcb8d6bc88c8 8582b1ee-b97e-42ab-be9f-5d3899704723 g.chr5:140214112C>G ENST00000525929.1 + 1 144 c.144C>G c.(142-144)atC>atG p.I48M PCDHA1_ENST00000504120.2_Intron|PCDHA5_ENST00000529859.1_Intron|PCDHA1_ENST00000394633.3_Intron|PCDHA2_ENST00000526136.1_Intron|PCDHA3_ENST00000522353.2_Intron|PCDHA6_ENST00000527624.1_Intron|PCDHA7_ENST00000378125.3_Missense_Mutation_p.I48M|PCDHA4_ENST00000530339.1_Intron|PCDHA6_ENST00000529310.1_Intron|PCDHA5_ENST00000529619.1_Intron|PCDHA4_ENST00000512229.2_Intron NM_018910.2 NP_061733.1 NS(2)|biliary_tract(1)|breast(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(27)|ovary(3)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3) 63 KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191) TGGGCCGCATCGCGCAGGACC 0.597000 57 159 0 0 1 0 0 NEB 4703 broad.mit.edu 37 2 152522033 152522033 + Silent SNP G G A TCGA-CN-A63Y-01A-11D-A30E-08 TCGA-CN-A63Y-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1573766d-cd60-4498-bdad-dcb8d6bc88c8 8582b1ee-b97e-42ab-be9f-5d3899704723 g.chr2:152522033G>A ENST00000427231.2 - 42 5254 c.5052C>T c.(5050-5052)ttC>ttT p.F1684F NEB_ENST00000409198.1_Silent_p.F1684F|NEB_ENST00000604864.1_Silent_p.F1684F|NEB_ENST00000172853.10_Silent_p.F1684F|NEB_ENST00000397345.3_Silent_p.F1684F|NEB_ENST00000603639.1_Silent_p.F1684F NM_001164507.1 NP_001157979.1 P20929 NEBU_HUMAN nebulin 1684 muscle filament sliding|muscle organ development|regulation of actin filament length|somatic muscle development actin cytoskeleton|cytosol|Z disc actin binding|structural constituent of muscle NS(5)|autonomic_ganglia(3)|breast(9)|central_nervous_system(5)|cervix(3)|endometrium(35)|kidney(16)|large_intestine(77)|liver(1)|lung(99)|ovary(9)|pancreas(3)|prostate(13)|skin(7)|stomach(8)|upper_aerodigestive_tract(6)|urinary_tract(2) 301 BRCA - Breast invasive adenocarcinoma(221;0.219) TCCAATTGGTGAAGTCAGATT 0.413000 7 17 0 0 1 0 0 GFM2 84340 broad.mit.edu 37 5 74041581 74041581 + Missense_Mutation SNP C C G TCGA-CN-A63Y-01A-11D-A30E-08 TCGA-CN-A63Y-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1573766d-cd60-4498-bdad-dcb8d6bc88c8 8582b1ee-b97e-42ab-be9f-5d3899704723 g.chr5:74041581C>G ENST00000296805.3 - 10 1228 c.771G>C c.(769-771)gaG>gaC p.E257D GFM2_ENST00000345239.2_Missense_Mutation_p.E257D|GFM2_ENST00000509430.1_Missense_Mutation_p.E257D|GFM2_ENST00000427854.2_Missense_Mutation_p.E257D NM_032380.3 NP_115756.2 Q969S9 RRF2M_HUMAN G elongation factor, mitochondrial 2 257 mitochondrial translation|ribosome disassembly mitochondrion GTP binding|GTPase activity breast(2)|endometrium(2)|large_intestine(4)|lung(5)|prostate(1) 14 all_lung(232;0.00101)|Lung NSC(167;0.00278)|Ovarian(174;0.0129)|Breast(144;0.231) OV - Ovarian serous cystadenocarcinoma(47;1.86e-56) GGGGCTTTCTCTCAAAGTCTT 0.348000 12 34 0 0 1 0 0 GAPDH 2597 broad.mit.edu 37 12 6646377 6646377 + Silent SNP C C A TCGA-CN-A63Y-01A-11D-A30E-08 TCGA-CN-A63Y-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1573766d-cd60-4498-bdad-dcb8d6bc88c8 8582b1ee-b97e-42ab-be9f-5d3899704723 g.chr12:6646377C>A ENST00000229239.5 + 6 1104 c.438C>A c.(436-438)atC>atA p.I146I GAPDH_ENST00000396861.1_Silent_p.I146I|GAPDH_ENST00000396859.1_Silent_p.I146I|GAPDH_ENST00000396856.1_Silent_p.I71I|GAPDH_ENST00000396858.1_Silent_p.I104I NM_002046.4 NP_002037.2 P04406 G3P_HUMAN glyceraldehyde-3-phosphate dehydrogenase 146 Interaction with WARS. gluconeogenesis|glycolysis|neuron apoptosis|peptidyl-cysteine S-trans-nitrosylation|protein stabilization cytosol|membrane|nucleus|perinuclear region of cytoplasm glyceraldehyde-3-phosphate dehydrogenase (NAD+) (phosphorylating) activity|NAD binding|peptidyl-cysteine S-nitrosylase activity|protein binding central_nervous_system(1)|cervix(1)|endometrium(1)|lung(4) 7 NADH(DB00157) GCCTCAAGATCATCAGGTGAG 0.592000 6 47 0.00307968 0.00310452 1 1 0 MORN5 254956 broad.mit.edu 37 9 124929130 124929130 + Missense_Mutation SNP G G A TCGA-CN-A63Y-01A-11D-A30E-08 TCGA-CN-A63Y-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1573766d-cd60-4498-bdad-dcb8d6bc88c8 8582b1ee-b97e-42ab-be9f-5d3899704723 g.chr9:124929130G>A ENST00000536616.1 + 2 169 c.131G>A c.(130-132)gGa>gAa p.G44E MORN5_ENST00000486801.1_3'UTR|MORN5_ENST00000373764.3_Missense_Mutation_p.G44E Q5VZ52 MORN5_HUMAN MORN repeat containing 5 44 endometrium(3)|kidney(1)|large_intestine(3)|lung(1)|skin(1) 9 CACGGCGAGGGAACCCTGTAC 0.527000 8 33 0 0 1 0 0 BAGE2 85319 broad.mit.edu 37 21 11058248 11058248 + RNA SNP G G A rs8130203 by1000genomes TCGA-CN-A63Y-01A-11D-A30E-08 TCGA-CN-A63Y-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1573766d-cd60-4498-bdad-dcb8d6bc88c8 8582b1ee-b97e-42ab-be9f-5d3899704723 g.chr21:11058248G>A ENST00000470054.1 - 0 399 B melanoma antigen family, member 2 Colorectal(6;3.44e-05)|COAD - Colon adenocarcinoma(6;0.00727)|READ - Rectum adenocarcinoma(6;0.0723) UCEC - Uterine corpus endometrioid carcinoma (6;0.0974)|all cancers(6;2.54e-22)|Epithelial(6;4.21e-19)|OV - Ovarian serous cystadenocarcinoma(6;1.16e-09)|BRCA - Breast invasive adenocarcinoma(6;7.72e-05)|Lung(8;0.000189)|LUSC - Lung squamous cell carcinoma(6;0.00379)|GBM - Glioblastoma multiforme(6;0.00391)|Kidney(17;0.0773)|LUAD - Lung adenocarcinoma(8;0.247) GCAGCACAAGGATAATGATAC 0.433000 5 127 0 0 1 0 0 TOM1L2 146691 broad.mit.edu 37 17 17783023 17783023 + Missense_Mutation SNP C C T TCGA-CN-A63Y-01A-11D-A30E-08 TCGA-CN-A63Y-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1573766d-cd60-4498-bdad-dcb8d6bc88c8 8582b1ee-b97e-42ab-be9f-5d3899704723 g.chr17:17783023C>T ENST00000581396.1 - 6 641 c.545G>A c.(544-546)cGa>cAa p.R182Q TOM1L2_ENST00000535933.1_Missense_Mutation_p.R179Q|TOM1L2_ENST00000395739.4_Missense_Mutation_p.R187Q|TOM1L2_ENST00000542206.1_Missense_Mutation_p.R84Q|TOM1L2_ENST00000379504.3_Missense_Mutation_p.R232Q|TOM1L2_ENST00000318094.10_Missense_Mutation_p.R187Q|TOM1L2_ENST00000540946.1_Missense_Mutation_p.R134Q NM_001033551.2 NP_001028723.1 Q6ZVM7 TM1L2_HUMAN target of myb1-like 2 (chicken) 232 intracellular protein transport intracellular endometrium(2)|kidney(2)|large_intestine(1)|lung(3)|prostate(2) 10 all_neural(463;0.228) TGTGTTTCCTCGAACGACGTC 0.507000 26 102 0 0 1 0 0 CNGA3 1261 broad.mit.edu 37 2 99012614 99012614 + Frame_Shift_Del DEL C C - TCGA-CN-A63Y-01A-11D-A30E-08 TCGA-CN-A63Y-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1573766d-cd60-4498-bdad-dcb8d6bc88c8 8582b1ee-b97e-42ab-be9f-5d3899704723 g.chr2:99012614delC ENST00000393504.1 + 8 1398 c.981delC c.(979-981)ttfs p.F327fs CNGA3_ENST00000272602.2_Frame_Shift_Del_p.F327fs|CNGA3_ENST00000409937.1_Frame_Shift_Del_p.F331fs|CNGA3_ENST00000436404.2_Frame_Shift_Del_p.F309fs NM_001298.2 NP_001289.1 Q16281 CNGA3_HUMAN cyclic nucleotide gated channel alpha 3 327 signal transduction|visual perception integral to membrane cGMP binding breast(1)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(10)|lung(17)|ovary(5)|prostate(3)|skin(4)|upper_aerodigestive_tract(3) 49 TTTCCAAGTTCATTGGTTTTG 0.478 19 112 --- --- --- --- STAG3L2 442582 broad.mit.edu 37 7 74300804 74300804 + RNA DEL A A - TCGA-CN-A63Y-01A-11D-A30E-08 TCGA-CN-A63Y-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1573766d-cd60-4498-bdad-dcb8d6bc88c8 8582b1ee-b97e-42ab-be9f-5d3899704723 g.chr7:74300804delA ENST00000423186.1 - 0 499 P0CL84 ST3L2_HUMAN nucleus binding breast(1)|central_nervous_system(1)|large_intestine(1)|lung(1)|pancreas(1) 5 CTTCATACTTAAAAAAAAAAA 0.458 2 4 --- --- --- --- ZNF750 79755 broad.mit.edu 37 17 80789724 80789725 + Frame_Shift_Del DEL GA GA - TCGA-CN-A63Y-01A-11D-A30E-08 TCGA-CN-A63Y-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1573766d-cd60-4498-bdad-dcb8d6bc88c8 8582b1ee-b97e-42ab-be9f-5d3899704723 g.chr17:80789724_80789725delGA ENST00000269394.3 - 2 1439_1440 c.606_607delTC c.(604-609)acctfs p.TP202fs TBCD_ENST00000397466.2_Intron|TBCD_ENST00000355528.4_Intron|ZNF750_ENST00000572562.1_Intron|TBCD_ENST00000539345.2_Intron NM_024702.2 NP_078978.2 Q32MQ0 ZN750_HUMAN zinc finger protein 750 202 intracellular zinc ion binding NS(3)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(4)|large_intestine(4)|lung(12)|prostate(1)|skin(1)|upper_aerodigestive_tract(2) 31 Breast(20;0.000523)|all_neural(118;0.0779) all_cancers(8;0.0514)|all_epithelial(8;0.0748) OV - Ovarian serous cystadenocarcinoma(97;0.0868)|BRCA - Breast invasive adenocarcinoma(99;0.149) GGGTAGCCAGGAGTGTGGAAGG 0.569 25 43 --- --- --- --- TMC4 147798 broad.mit.edu 37 19 54675747 54675749 + In_Frame_Del DEL TCC TCC - TCGA-CN-A63Y-01A-11D-A30E-08 TCGA-CN-A63Y-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1573766d-cd60-4498-bdad-dcb8d6bc88c8 8582b1ee-b97e-42ab-be9f-5d3899704723 g.chr19:54675747_54675749delTCC ENST00000376591.4 - 2 332_334 c.201_203delGGA c.(199-204)gat>ga p.ED67del TMC4_ENST00000301187.4_In_Frame_Del_p.ED61del NM_001145303.1|NM_144686.2 NP_001138775.1|NP_653287.1 Q7Z404 TMC4_HUMAN transmembrane channel-like 4 67 Poly-Glu. integral to membrane breast(2)|endometrium(7)|large_intestine(4)|lung(6)|pancreas(1)|skin(1)|urinary_tract(1) 22 all_cancers(19;0.0065)|all_epithelial(19;0.00348)|all_lung(19;0.0175)|Lung NSC(19;0.0325)|Ovarian(34;0.19) CCTTCCTCCATCCTCCTCCTCCT 0.645 8 108 --- --- --- ---