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 PCDHA7 0 broad.mit.edu 37 5 140215137 140215137 + Missense_Mutation SNP C C T TCGA-EJ-5542-01A-01D-1576-08 TCGA-EJ-5542-10A-01D-1577-08 Untested Somatic Phase_I WXS none Illumina GAIIx ce0298b4-8456-4369-8916-c951b956dcc6 dd83711f-fea0-42e2-93ca-58faed54db89 g.chr5:140215137C>T ENST00000525929.1 + 1 1169 c.1169C>T c.(1168-1170)aCg>aTg p.T390M PCDHA1_ENST00000394633.3_Intron|PCDHA4_ENST00000530339.1_Intron|PCDHA5_ENST00000529859.1_Intron|PCDHA5_ENST00000529619.1_Intron|PCDHA6_ENST00000529310.1_Intron|PCDHA6_ENST00000527624.1_Intron|PCDHA2_ENST00000526136.1_Intron|PCDHA3_ENST00000522353.2_Intron|PCDHA4_ENST00000512229.2_Intron|PCDHA1_ENST00000504120.2_Intron|PCDHA7_ENST00000378125.3_Missense_Mutation_p.T390M NM_018910.2 NP_061733.1 p.T390M(2) 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) TGCTCCCTGACGCCCCGCGTT 0.542000 6 293 0 0 0.217242 0 0 HEATR5B 54497 broad.mit.edu 37 2 37283622 37283622 + Missense_Mutation SNP A A G TCGA-EJ-5542-01A-01D-1576-08 TCGA-EJ-5542-10A-01D-1577-08 Untested Somatic Phase_I WXS none Illumina GAIIx ce0298b4-8456-4369-8916-c951b956dcc6 dd83711f-fea0-42e2-93ca-58faed54db89 g.chr2:37283622A>G ENST00000233099.5 - 16 2455 c.2360T>C c.(2359-2361)cTt>cCt p.L787P HEATR5B_ENST00000354531.2_Missense_Mutation_p.L787P NM_019024.1 NP_061897.1 Q9P2D3 HTR5B_HUMAN HEAT repeat containing 5B 787 binding breast(3)|cervix(3)|endometrium(3)|kidney(3)|large_intestine(11)|lung(31)|ovary(5)|pancreas(1)|prostate(1)|skin(10)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(3) 77 all_hematologic(82;0.21) TACACCAAAAAGGGCCACAGA 0.393000 3 175 0 0 0.150653 0 0 SIDT2 51092 broad.mit.edu 37 11 117066583 117066583 + Silent SNP C C T TCGA-EJ-5542-01A-01D-1576-08 TCGA-EJ-5542-10A-01D-1577-08 Untested Somatic Phase_I WXS none Illumina GAIIx ce0298b4-8456-4369-8916-c951b956dcc6 dd83711f-fea0-42e2-93ca-58faed54db89 g.chr11:117066583C>T ENST00000324225.4 + 25 2919 c.2388C>T c.(2386-2388)caC>caT p.H796H SIDT2_ENST00000431081.2_Silent_p.H793H|SIDT2_ENST00000532062.1_Silent_p.H88H NM_001040455.1 NP_001035545.1 Q8NBJ9 SIDT2_HUMAN SID1 transmembrane family, member 2 796 integral to membrane|lysosomal membrane p.H796H(1) NS(1)|breast(2)|endometrium(4)|kidney(1)|large_intestine(9)|lung(11)|ovary(1)|prostate(4)|skin(1)|upper_aerodigestive_tract(2) 36 all_hematologic(175;0.0487) Breast(348;0.00908)|Medulloblastoma(222;0.0425)|all_hematologic(192;0.196)|all_neural(223;0.234) BRCA - Breast invasive adenocarcinoma(274;1.69e-05)|Epithelial(105;0.000219)|all cancers(92;0.00144) TTGACGACCACGACATCTGGC 0.602000 6 466 0 0 0.248553 0 0 NEB 4703 broad.mit.edu 37 2 152512437 152512437 + Missense_Mutation SNP G G A TCGA-EJ-5542-01A-01D-1576-08 TCGA-EJ-5542-10A-01D-1577-08 Untested Somatic Phase_I WXS none Illumina GAIIx ce0298b4-8456-4369-8916-c951b956dcc6 dd83711f-fea0-42e2-93ca-58faed54db89 g.chr2:152512437G>A ENST00000397345.3 - 50 6798 c.6596C>T c.(6595-6597)gCc>gTc p.A2199V NEB_ENST00000409198.1_Missense_Mutation_p.A2199V|NEB_ENST00000172853.10_Missense_Mutation_p.A2199V|NEB_ENST00000604864.1_Missense_Mutation_p.A2199V|NEB_ENST00000427231.2_Missense_Mutation_p.A2199V|NEB_ENST00000603639.1_Missense_Mutation_p.A2199V NM_001164508.1 NP_001157980.1 P20929 NEBU_HUMAN nebulin 2199 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 p.A2199V(2) 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) CTGATCACTGGCATATTCAGT 0.463000 5 205 0 0 0.184627 0 0 FGG 2266 broad.mit.edu 37 4 155532986 155532986 + Silent SNP T T C TCGA-EJ-5542-01A-01D-1576-08 TCGA-EJ-5542-10A-01D-1577-08 Untested Somatic Phase_I WXS none Illumina GAIIx ce0298b4-8456-4369-8916-c951b956dcc6 dd83711f-fea0-42e2-93ca-58faed54db89 g.chr4:155532986T>C ENST00000404648.3 - 4 611 c.372A>G c.(370-372)gcA>gcG p.A124A FGG_ENST00000407946.1_Silent_p.A124A|FGG_ENST00000336098.3_Silent_p.A124A|FGG_ENST00000405164.1_Silent_p.A124A NM_000509.4 NP_000500.2 P02679 FIBG_HUMAN fibrinogen gamma chain 124 platelet activation|platelet degranulation|protein polymerization|response to calcium ion|signal transduction external side of plasma membrane|fibrinogen complex|platelet alpha granule lumen eukaryotic cell surface binding|protein binding, bridging|receptor binding p.A124A(1) breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|lung(9)|prostate(3)|upper_aerodigestive_tract(1)|urinary_tract(1) 27 all_hematologic(180;0.215) Renal(120;0.0458) Sucralfate(DB00364) TTAAAATCGATGCTTCATATT 0.299000 28 66 0 0 0.693898 0 0 ZMYND12 84217 broad.mit.edu 37 1 42898890 42898890 + Missense_Mutation SNP T T G TCGA-EJ-5542-01A-01D-1576-08 TCGA-EJ-5542-10A-01D-1577-08 Untested Somatic Phase_I WXS none Illumina GAIIx ce0298b4-8456-4369-8916-c951b956dcc6 dd83711f-fea0-42e2-93ca-58faed54db89 g.chr1:42898890T>G ENST00000372565.3 - 7 1168 c.899A>C c.(898-900)gAc>gCc p.D300A ZMYND12_ENST00000433602.2_Missense_Mutation_p.D190A|ZMYND12_ENST00000475426.1_5'UTR NM_032257.4 NP_115633.3 Q9H0C1 ZMY12_HUMAN zinc finger, MYND-type containing 12 300 intracellular zinc ion binding p.D300A(1) NS(1)|endometrium(2)|large_intestine(3)|lung(5)|ovary(2)|prostate(2)|skin(2) 17 Ovarian(52;0.00744)|all_hematologic(146;0.0977)|Acute lymphoblastic leukemia(166;0.155) Myeloproliferative disorder(586;0.0505) GGGGGCTTTGTCAGATGTAGA 0.408000 33 452 0 0 0.760397 0 0 ZNF521 25925 broad.mit.edu 37 18 22804629 22804629 + Missense_Mutation SNP T T C TCGA-EJ-5542-01A-01D-1576-08 TCGA-EJ-5542-10A-01D-1577-08 Untested Somatic Phase_I WXS none Illumina GAIIx ce0298b4-8456-4369-8916-c951b956dcc6 dd83711f-fea0-42e2-93ca-58faed54db89 g.chr18:22804629T>C ENST00000361524.3 - 4 3401 c.3253A>G c.(3253-3255)Atc>Gtc p.I1085V ZNF521_ENST00000584787.1_Missense_Mutation_p.I865V|ZNF521_ENST00000538137.2_Missense_Mutation_p.I1085V NM_015461.2 NP_056276.1 Q96K83 ZN521_HUMAN zinc finger protein 521 1085 cell differentiation|multicellular organismal development|regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|protein domain specific binding|zinc ion binding p.I1085V(2) 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) AGGCCATTGATATCAAGTTTC 0.532000 T PAX5 ALL 7 120 0 0 0.248553 0 0 GSDMB 55876 broad.mit.edu 37 17 38062140 38062140 + Silent SNP C C T rs144949338 TCGA-EJ-5542-01A-01D-1576-08 TCGA-EJ-5542-10A-01D-1577-08 Untested Somatic Phase_I WXS none Illumina GAIIx ce0298b4-8456-4369-8916-c951b956dcc6 dd83711f-fea0-42e2-93ca-58faed54db89 g.chr17:38062140C>T ENST00000394175.2 - 6 1144 c.921G>A c.(919-921)gcG>gcA p.A307A GSDMB_ENST00000394179.1_Silent_p.A324A|GSDMB_ENST00000418519.1_Silent_p.A329A|GSDMB_ENST00000520542.1_Silent_p.A320A|GSDMB_ENST00000309481.7_Silent_p.A316A|GSDMB_ENST00000360317.3_Silent_p.A329A NM_018530.2 NP_061000.2 Q8TAX9 GSDMB_HUMAN gasdermin B 324 cytoplasm p.A307A(1)|p.A329A(1) breast(2)|endometrium(3)|large_intestine(6)|lung(6)|pancreas(1)|prostate(1)|stomach(2) 21 CTTTTGCACGCGCTTCTACCA 0.567000 80 191 0 0 0.870114 0 0 ERCC6 2074 broad.mit.edu 37 10 50666944 50666944 + Nonsense_Mutation SNP G G A TCGA-EJ-5542-01A-01D-1576-08 TCGA-EJ-5542-10A-01D-1577-08 Untested Somatic Phase_I WXS none Illumina GAIIx ce0298b4-8456-4369-8916-c951b956dcc6 dd83711f-fea0-42e2-93ca-58faed54db89 g.chr10:50666944G>A ENST00000355832.5 - 21 4477 c.4399C>T c.(4399-4401)Cga>Tga p.R1467* ERCC6_ENST00000542458.1_Nonsense_Mutation_p.R837*|RP11-123B3.2_ENST00000423283.1_RNA NM_000124.2 NP_000115.1 Q03468 ERCC6_HUMAN excision repair cross-complementing rodent repair deficiency, complementation group 6 1467 base-excision repair|positive regulation of transcription elongation, DNA-dependent|transcription from RNA polymerase II promoter|transcription-coupled nucleotide-excision repair nucleolus|soluble fraction|transcription elongation factor complex ATP binding|chromatin binding|DNA binding|DNA-dependent ATPase activity|helicase activity|protein C-terminus binding|protein complex binding|protein N-terminus binding p.R1467*(2) breast(5)|central_nervous_system(1)|endometrium(6)|kidney(5)|large_intestine(15)|lung(19)|ovary(3)|pancreas(1)|prostate(2)|skin(1)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(1) 64 AATAGTTCTCGGAAGACACAA 0.458000 Direct reversal of damage;Nucleotide excision repair (NER) 6 287 0 0 0.217242 0 0 DAGLA 747 broad.mit.edu 37 11 61505663 61505663 + Missense_Mutation SNP G G A TCGA-EJ-5542-01A-01D-1576-08 TCGA-EJ-5542-10A-01D-1577-08 Untested Somatic Phase_I WXS none Illumina GAIIx ce0298b4-8456-4369-8916-c951b956dcc6 dd83711f-fea0-42e2-93ca-58faed54db89 g.chr11:61505663G>A ENST00000257215.5 + 16 1756 c.1640G>A c.(1639-1641)cGa>cAa p.R547Q NM_006133.2 NP_006124.1 Q9Y4D2 DGLA_HUMAN diacylglycerol lipase, alpha 547 cell death|lipid catabolic process|platelet activation integral to membrane|plasma membrane acylglycerol lipase activity|metal ion binding|triglyceride lipase activity p.R547Q(1) breast(1)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(4)|liver(2)|lung(17)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(4) 43 READ - Rectum adenocarcinoma(4;0.219) GTCCTGCAGCGAAGCACCAAG 0.637000 4 45 0 0 0.150653 0 0 PTPN21 11099 broad.mit.edu 37 14 88983485 88983485 + Missense_Mutation SNP C C T TCGA-EJ-5542-01A-01D-1576-08 TCGA-EJ-5542-10A-01D-1577-08 Untested Somatic Phase_I WXS none Illumina GAIIx ce0298b4-8456-4369-8916-c951b956dcc6 dd83711f-fea0-42e2-93ca-58faed54db89 g.chr14:88983485C>T ENST00000556564.1 - 3 585 c.301G>A c.(301-303)Gtg>Atg p.V101M PTPN21_ENST00000328736.3_Missense_Mutation_p.V101M|PTPN21_ENST00000554628.1_5'UTR NM_007039.3 NP_008970.2 Q16825 PTN21_HUMAN protein tyrosine phosphatase, non-receptor type 21 101 FERM. cytoplasm|cytoskeleton binding|protein tyrosine phosphatase activity p.V101M(2) breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(13)|liver(1)|lung(7)|ovary(4)|prostate(3)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(1) 45 TAAAACACCACTCCAAAATAG 0.413000 45 117 0 0 0.859065 0 0 ARRDC3 57561 broad.mit.edu 37 5 90670036 90670036 + Missense_Mutation SNP C C T TCGA-EJ-5542-01A-01D-1576-08 TCGA-EJ-5542-10A-01D-1577-08 Untested Somatic Phase_I WXS none Illumina GAIIx ce0298b4-8456-4369-8916-c951b956dcc6 dd83711f-fea0-42e2-93ca-58faed54db89 g.chr5:90670036C>T ENST00000265138.3 - 6 1194 c.928G>A c.(928-930)Ggt>Agt p.G310S NM_020801.2 NP_065852.1 Q96B67 ARRD3_HUMAN arrestin domain containing 3 310 signal transduction cytoplasm protein binding p.G310S(1) breast(2)|endometrium(3)|large_intestine(3)|lung(7)|ovary(1)|prostate(1)|urinary_tract(1) 18 all_cancers(142;2.22e-05)|all_epithelial(76;1.58e-07)|all_lung(232;0.000521)|Lung NSC(167;0.000548)|Ovarian(174;0.0798)|Colorectal(57;0.207) OV - Ovarian serous cystadenocarcinoma(54;4.56e-30)|Epithelial(54;7.55e-26)|all cancers(79;3.63e-22) GGAATGGTACCGATGACAAGT 0.378000 5 285 0 0 0.248553 0 0 SETX 23064 broad.mit.edu 37 9 135205329 135205329 + Missense_Mutation SNP C C A TCGA-EJ-5542-01A-01D-1576-08 TCGA-EJ-5542-10A-01D-1577-08 Untested Somatic Phase_I WXS none Illumina GAIIx ce0298b4-8456-4369-8916-c951b956dcc6 dd83711f-fea0-42e2-93ca-58faed54db89 g.chr9:135205329C>A ENST00000372169.2 - 10 1838 c.1656G>T c.(1654-1656)caG>caT p.Q552H SETX_ENST00000393220.1_Missense_Mutation_p.Q552H|SETX_ENST00000224140.5_Missense_Mutation_p.Q552H Q7Z333 SETX_HUMAN senataxin 552 cell death|double-strand break repair|RNA processing cytoplasm|nucleolus|nucleoplasm ATP binding|DNA helicase activity breast(7)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(25)|liver(1)|lung(36)|ovary(2)|prostate(2)|skin(1)|stomach(4)|upper_aerodigestive_tract(1)|urinary_tract(2) 97 Myeloproliferative disorder(178;0.204) OV - Ovarian serous cystadenocarcinoma(145;6.82e-06)|Epithelial(140;0.000171) TGCAAAGAGACTGCTGCCCAA 0.423000 4 203 0.150653 0.164904 0.150653 1 0 KCNK6 9424 broad.mit.edu 37 19 38810914 38810914 + Splice_Site SNP T T C TCGA-EJ-5542-01A-01D-1576-08 TCGA-EJ-5542-10A-01D-1577-08 Untested Somatic Phase_I WXS none Illumina GAIIx ce0298b4-8456-4369-8916-c951b956dcc6 dd83711f-fea0-42e2-93ca-58faed54db89 g.chr19:38810914T>C ENST00000263372.3 + 1 429 c.e1+2 KCNK6_ENST00000588137.1_Splice_Site NM_004823.1 NP_004814.1 Q9Y257 KCNK6_HUMAN potassium channel, subfamily K, member 6 voltage-gated potassium channel complex inward rectifier potassium channel activity p.?(1) endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(6)|ovary(1)|prostate(3) 17 all_cancers(60;5.83e-07) Lung(45;0.00047)|LUSC - Lung squamous cell carcinoma(53;0.000613) Ibutilide(DB00308)|Quinidine(DB00908) CCACCGTGGGTACGTAAGCGC 0.647000 3 50 0 0 0.115264 0 0 RAB3GAP2 25782 broad.mit.edu 37 1 220364491 220364491 + Missense_Mutation SNP G G A rs151225064 TCGA-EJ-5542-01A-01D-1576-08 TCGA-EJ-5542-10A-01D-1577-08 Untested Somatic Phase_I WXS none Illumina GAIIx ce0298b4-8456-4369-8916-c951b956dcc6 dd83711f-fea0-42e2-93ca-58faed54db89 g.chr1:220364491G>A ENST00000358951.2 - 14 1522 c.1406C>T c.(1405-1407)gCg>gTg p.A469V NM_012414.3 NP_036546.2 Q9H2M9 RBGPR_HUMAN RAB3 GTPase activating protein subunit 2 (non-catalytic) 469 intracellular protein transport cytoplasm|soluble fraction GTPase activator activity|protein heterodimerization activity p.A469V(1) breast(1)|central_nervous_system(1)|endometrium(6)|kidney(2)|large_intestine(8)|lung(13)|ovary(1)|pancreas(1)|prostate(4)|skin(1)|urinary_tract(1) 39 GBM - Glioblastoma multiforme(131;0.0443) CCTTCTTGGCGCATAGATCAC 0.493000 5 234 0 0 0.217242 0 0 RYR2 6262 broad.mit.edu 37 1 237754089 237754089 + Silent SNP T T A TCGA-EJ-5542-01A-01D-1576-08 TCGA-EJ-5542-10A-01D-1577-08 Untested Somatic Phase_I WXS none Illumina GAIIx ce0298b4-8456-4369-8916-c951b956dcc6 dd83711f-fea0-42e2-93ca-58faed54db89 g.chr1:237754089T>A ENST00000366574.2 + 31 4274 c.3957T>A c.(3955-3957)gcT>gcA p.A1319A RYR2_ENST00000542537.1_Silent_p.A1303A|RYR2_ENST00000360064.6_Silent_p.A1317A NM_001035.2 NP_001026.2 Q92736 RYR2_HUMAN ryanodine receptor 2 (cardiac) 1319 4 X approximate repeats. cardiac muscle contraction|detection of calcium ion|induction of apoptosis by ionic changes|regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion|release of sequestered calcium ion into cytosol by sarcoplasmic reticulum|response to caffeine|response to hypoxia|response to redox state calcium channel complex|cytosol|plasma membrane|plasma membrane enriched fraction|sarcoplasmic reticulum membrane calcium ion binding|calmodulin binding|identical protein binding|protein kinase A catalytic subunit binding|protein kinase A regulatory subunit binding|receptor activity|ryanodine-sensitive calcium-release channel activity|suramin binding NS(4)|breast(8)|central_nervous_system(11)|cervix(2)|endometrium(39)|haematopoietic_and_lymphoid_tissue(5)|kidney(17)|large_intestine(83)|liver(4)|lung(353)|ovary(18)|pancreas(5)|prostate(12)|skin(8)|stomach(1)|upper_aerodigestive_tract(12)|urinary_tract(4) 586 Ovarian(103;0.103) all_cancers(173;0.000368)|Melanoma(53;0.0179)|all_epithelial(177;0.0225) OV - Ovarian serous cystadenocarcinoma(106;0.00606) AGACGGTGGCTGGAGGGCTCC 0.512000 4 221 0 0 0.184627 0 0 VWA3B 200403 broad.mit.edu 37 2 98853086 98853086 + Missense_Mutation SNP G G A TCGA-EJ-5542-01A-01D-1576-08 TCGA-EJ-5542-10A-01D-1577-08 Untested Somatic Phase_I WXS none Illumina GAIIx ce0298b4-8456-4369-8916-c951b956dcc6 dd83711f-fea0-42e2-93ca-58faed54db89 g.chr2:98853086G>A ENST00000477737.1 + 19 2770 c.2566G>A c.(2566-2568)Gcc>Acc p.A856T NM_144992.4 NP_659429.4 Q502W6 VWA3B_HUMAN von Willebrand factor A domain containing 3B 856 p.A856T(1) NS(3)|breast(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(10)|lung(33)|ovary(3)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2) 70 TGGCTTGGTCGCCAAGAAACT 0.478000 4 108 0 0 0.150653 0 0 EXTL3 2137 broad.mit.edu 37 8 28575417 28575417 + Missense_Mutation SNP T T C TCGA-EJ-5542-01A-01D-1576-08 TCGA-EJ-5542-10A-01D-1577-08 Untested Somatic Phase_I WXS none Illumina GAIIx ce0298b4-8456-4369-8916-c951b956dcc6 dd83711f-fea0-42e2-93ca-58faed54db89 g.chr8:28575417T>C ENST00000220562.4 + 3 2743 c.1841T>C c.(1840-1842)tTc>tCc p.F614S EXTL3_ENST00000523149.1_Missense_Mutation_p.F230S|EXTL3_ENST00000519886.1_Intron NM_001440.2 NP_001431.1 O43909 EXTL3_HUMAN exostosin-like glycosyltransferase 3 614 integral to membrane|intrinsic to endoplasmic reticulum membrane glucuronyl-galactosyl-proteoglycan 4-alpha-N-acetylglucosaminyltransferase activity|metal ion binding|protein binding p.F614S(1) biliary_tract(1)|endometrium(3)|kidney(2)|large_intestine(15)|lung(8)|ovary(1)|prostate(2)|skin(2)|soft_tissue(1)|urinary_tract(1) 36 Ovarian(32;0.069) KIRC - Kidney renal clear cell carcinoma(542;0.107)|Kidney(114;0.129)|Colorectal(74;0.228) TTCCATCTTTTCCCCCACACT 0.577000 18 192 0 0 0.608945 0 0 MPEG1 219972 broad.mit.edu 37 11 58979394 58979394 + Missense_Mutation SNP G G T TCGA-EJ-5542-01A-01D-1576-08 TCGA-EJ-5542-10A-01D-1577-08 Untested Somatic Phase_I WXS none Illumina GAIIx ce0298b4-8456-4369-8916-c951b956dcc6 dd83711f-fea0-42e2-93ca-58faed54db89 g.chr11:58979394G>T ENST00000361050.3 - 1 1030 c.945C>A c.(943-945)aaC>aaA p.N315K NM_001039396.1 NP_001034485.1 Q2M385 MPEG1_HUMAN macrophage expressed 1 315 MACPF. integral to membrane p.N315K(1) NS(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(21)|ovary(1)|prostate(3)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 39 all_epithelial(135;0.125) GCATGTTGGGGTTGATGAAGA 0.552000 17 74 1.45105e-14 1.78084e-14 0.539581 1 0 FBN1 2200 broad.mit.edu 37 15 48788323 48788323 + Missense_Mutation SNP T T C TCGA-EJ-5542-01A-01D-1576-08 TCGA-EJ-5542-10A-01D-1577-08 Untested Somatic Phase_I WXS none Illumina GAIIx ce0298b4-8456-4369-8916-c951b956dcc6 dd83711f-fea0-42e2-93ca-58faed54db89 g.chr15:48788323T>C ENST00000316623.5 - 20 2848 c.2393A>G c.(2392-2394)tAc>tGc p.Y798C NM_000138.4 NP_000129.3 P35555 FBN1_HUMAN fibrillin 1 798 EGF-like 12; calcium-binding. heart development|negative regulation of BMP signaling pathway by extracellular sequestering of BMP|negative regulation of transforming growth factor beta receptor signaling pathway by extracellular sequestering of TGFbeta|skeletal system development basement membrane|extracellular space|microfibril calcium ion binding|extracellular matrix structural constituent|protein binding p.Y798C(1) NS(1)|breast(5)|cervix(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(4)|kidney(6)|large_intestine(43)|liver(1)|lung(49)|ovary(4)|pancreas(1)|prostate(9)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(2) 139 all_lung(180;0.00279) all cancers(107;4.24e-07)|GBM - Glioblastoma multiforme(94;1.41e-05) ATCAGGTTTGTAGATAAATCC 0.353000 41 110 0 0 0.819951 0 0 CTC-260E6.6 0 broad.mit.edu 37 19 20369868 20369868 + RNA SNP G G C TCGA-EJ-5542-01A-01D-1576-08 TCGA-EJ-5542-10A-01D-1577-08 Untested Somatic Phase_I WXS none Illumina GAIIx ce0298b4-8456-4369-8916-c951b956dcc6 dd83711f-fea0-42e2-93ca-58faed54db89 g.chr19:20369868G>C ENST00000593655.1 - 0 199 TGTTGAAGGAGTTGGTGTTGC 0.408000 6 93 0 0 0.278610 0 0 NACA 4666 broad.mit.edu 37 12 57112065 57112065 + Silent SNP T T C TCGA-EJ-5542-01A-01D-1576-08 TCGA-EJ-5542-10A-01D-1577-08 Untested Somatic Phase_I WXS none Illumina GAIIx ce0298b4-8456-4369-8916-c951b956dcc6 dd83711f-fea0-42e2-93ca-58faed54db89 g.chr12:57112065T>C ENST00000454682.1 - 3 3530 c.3249A>G c.(3247-3249)ccA>ccG p.P1083P NACA_ENST00000550952.1_Intron|NACA_ENST00000393891.4_Intron|NACA_ENST00000546392.1_Intron|NACA_ENST00000548563.1_Intron|NACA_ENST00000551793.1_Intron|NACA_ENST00000552540.1_Intron|NACA_ENST00000356769.3_Intron NM_001113203.2 NP_001106674.2 Q13765 NACA_HUMAN nascent polypeptide-associated complex alpha subunit 0 interspecies interaction between organisms|protein transport|transcription, DNA-dependent|translation nascent polypeptide-associated complex|nucleus DNA binding breast(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(1)|ovary(2)|upper_aerodigestive_tract(1) 10 GAGTCGCAGCTGGGGGAGTGG 0.672000 T BCL6 NHL 34 73 0 0 0.812448 0 0 IGKV1-17 0 broad.mit.edu 37 2 89417050 89417050 + RNA SNP C C A TCGA-EJ-5542-01A-01D-1576-08 TCGA-EJ-5542-10A-01D-1577-08 Untested Somatic Phase_I WXS none Illumina GAIIx ce0298b4-8456-4369-8916-c951b956dcc6 dd83711f-fea0-42e2-93ca-58faed54db89 g.chr2:89417050C>A ENST00000490686.1 - 0 160 ACTTGCCCGGCAAGTGATGGT 0.498000 66 255 1.7488e-33 2.21332e-33 0.870114 1 0 MUC17 140453 broad.mit.edu 37 7 100680060 100680060 + Missense_Mutation SNP C C T rs145956810 byFrequency TCGA-EJ-5542-01A-01D-1576-08 TCGA-EJ-5542-10A-01D-1577-08 Untested Somatic Phase_I WXS none Illumina GAIIx ce0298b4-8456-4369-8916-c951b956dcc6 dd83711f-fea0-42e2-93ca-58faed54db89 g.chr7:100680060C>T ENST00000306151.4 + 3 5427 c.5363C>T c.(5362-5364)tCg>tTg p.S1788L NM_001040105.1 NP_001035194.1 Q685J3 MUC17_HUMAN mucin 17, cell surface associated 1788 59 X approximate tandem repeats.|Ser-rich. extracellular region|integral to membrane|plasma membrane extracellular matrix constituent, lubricant activity p.S1788L(1) NS(3)|breast(14)|central_nervous_system(2)|cervix(2)|endometrium(27)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(28)|lung(179)|ovary(19)|pancreas(1)|prostate(13)|skin(26)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(4) 343 Lung NSC(181;0.136)|all_lung(186;0.182) GAAGCCACTTCGTCTCCTACA 0.537000 8 506 0 0 0.387290 0 0 SMG6 23293 broad.mit.edu 37 17 2076132 2076132 + Silent SNP C C T TCGA-EJ-5542-01A-01D-1576-08 TCGA-EJ-5542-10A-01D-1577-08 Untested Somatic Phase_I WXS none Illumina GAIIx ce0298b4-8456-4369-8916-c951b956dcc6 dd83711f-fea0-42e2-93ca-58faed54db89 g.chr17:2076132C>T ENST00000544865.1 - 13 3594 c.3084G>A c.(3082-3084)tcG>tcA p.S1028S SMG6_ENST00000354901.4_Silent_p.S151S|SMG6_ENST00000536871.2_Silent_p.S151S|SMG6_ENST00000263073.5_Silent_p.S1059S Q86US8 EST1A_HUMAN SMG6 nonsense mediated mRNA decay factor 1059 mRNA export from nucleus|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay|regulation of dephosphorylation|telomere maintenance chromosome, telomeric region|cytosol|nucleolus|telomerase holoenzyme complex endoribonuclease activity|metal ion binding|protein binding|telomeric DNA binding p.S1059S(2) NS(1)|breast(2)|central_nervous_system(3)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(7)|lung(10)|ovary(3)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 45 CAGCCAGCGTCGACCATACAT 0.453000 13 61 0 0 0.411799 0 0 PCDHA3 0 broad.mit.edu 37 5 140183011 140183011 + Silent SNP C C T TCGA-EJ-5542-01A-01D-1576-08 TCGA-EJ-5542-10A-01D-1577-08 Untested Somatic Phase_I WXS none Illumina GAIIx ce0298b4-8456-4369-8916-c951b956dcc6 dd83711f-fea0-42e2-93ca-58faed54db89 g.chr5:140183011C>T ENST00000522353.2 + 1 2229 c.2229C>T c.(2227-2229)agC>agT p.S743S PCDHA1_ENST00000394633.3_Intron|PCDHA2_ENST00000526136.1_Intron|PCDHA3_ENST00000532566.2_Silent_p.S743S|PCDHA2_ENST00000520672.2_Intron|PCDHA1_ENST00000504120.2_Intron NM_018906.2 NP_061729.1 p.S743S(4)|p.S743R(2) 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) TGTGCTCCAGCGCGGTGGGGA 0.637000 5 288 0 0 0.217242 0 0 PGM2L1 283209 broad.mit.edu 37 11 74053512 74053512 + Silent SNP C C T rs151007979 TCGA-EJ-5542-01A-01D-1576-08 TCGA-EJ-5542-10A-01D-1577-08 Untested Somatic Phase_I WXS none Illumina GAIIx ce0298b4-8456-4369-8916-c951b956dcc6 dd83711f-fea0-42e2-93ca-58faed54db89 g.chr11:74053512C>T ENST00000298198.4 - 12 1937 c.1626G>A c.(1624-1626)aaG>aaA p.K542K NM_173582.3 NP_775853.2 Q6PCE3 PGM2L_HUMAN phosphoglucomutase 2-like 1 542 glucose 1-phosphate metabolic process cytosol glucose-1,6-bisphosphate synthase activity|phosphoglucomutase activity p.K542K(1) NS(2)|breast(1)|endometrium(3)|kidney(1)|large_intestine(3)|lung(11)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1) 26 Breast(11;3.32e-06) TTACTGATTTCTTATTAGGCT 0.353000 13 163 0 0 0.435327 0 0 ZNF423 23090 broad.mit.edu 37 16 49672120 49672120 + Missense_Mutation SNP G G T TCGA-EJ-5542-01A-01D-1576-08 TCGA-EJ-5542-10A-01D-1577-08 Untested Somatic Phase_I WXS none Illumina GAIIx ce0298b4-8456-4369-8916-c951b956dcc6 dd83711f-fea0-42e2-93ca-58faed54db89 g.chr16:49672120G>T ENST00000561648.1 - 4 996 c.943C>A c.(943-945)Cac>Aac p.H315N ZNF423_ENST00000562520.1_Missense_Mutation_p.H255N|ZNF423_ENST00000262383.2_Missense_Mutation_p.H315N|ZNF423_ENST00000567169.1_Missense_Mutation_p.H198N|ZNF423_ENST00000535559.1_Missense_Mutation_p.H198N|ZNF423_ENST00000562871.1_Missense_Mutation_p.H255N|ZNF423_ENST00000563137.2_Missense_Mutation_p.H255N NM_001271620.1 NP_001258549.1 Q2M1K9 ZN423_HUMAN zinc finger protein 423 315 cell differentiation|negative regulation of transcription, DNA-dependent|nervous system development|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus zinc ion binding p.H315N(3) breast(1)|central_nervous_system(1)|endometrium(8)|kidney(6)|large_intestine(16)|lung(47)|ovary(1)|pancreas(2)|prostate(4)|skin(1)|urinary_tract(2) 89 all_cancers(37;0.0155) TGGGCTTGGTGGATATGGGCG 0.622000 4 112 0.184627 0.199397 0.184627 1 0 DNM1P46 0 broad.mit.edu 37 15 100332853 100332853 + RNA SNP T T G TCGA-EJ-5542-01A-01D-1576-08 TCGA-EJ-5542-10A-01D-1577-08 Untested Somatic Phase_I WXS none Illumina GAIIx ce0298b4-8456-4369-8916-c951b956dcc6 dd83711f-fea0-42e2-93ca-58faed54db89 g.chr15:100332853T>G ENST00000341853.1 - 0 1338 NR_003260.1 p.T127T(1) TCCCGGCCACTGCCCTGAAGC 0.607000 6 100 0 0 0.217242 0 0 CMA1 1215 broad.mit.edu 37 14 24976626 24976626 + Missense_Mutation SNP T T C TCGA-EJ-5542-01A-01D-1576-08 TCGA-EJ-5542-10A-01D-1577-08 Untested Somatic Phase_I WXS none Illumina GAIIx ce0298b4-8456-4369-8916-c951b956dcc6 dd83711f-fea0-42e2-93ca-58faed54db89 g.chr14:24976626T>C ENST00000250378.3 - 2 174 c.145A>G c.(145-147)Aaa>Gaa p.K49E RP11-80A15.1_ENST00000555109.1_Intron|CMA1_ENST00000206446.4_Intron NM_001836.3 NP_001827.1 P23946 CMA1_HUMAN chymase 1, mast cell 49 Peptidase S1. interleukin-1 beta biosynthetic process|proteolysis extracellular region serine-type endopeptidase activity p.K49E(1) kidney(1)|lung(8)|pancreas(1)|prostate(1) 11 GBM - Glioblastoma multiforme(265;0.0271) CCACAAAATTTTGAGGGACCG 0.502000 94 274 0 0 0.870114 0 0 GRIK5 2901 broad.mit.edu 37 19 42569514 42569514 + Silent SNP C C T TCGA-EJ-5542-01A-01D-1576-08 TCGA-EJ-5542-10A-01D-1577-08 Untested Somatic Phase_I WXS none Illumina GAIIx ce0298b4-8456-4369-8916-c951b956dcc6 dd83711f-fea0-42e2-93ca-58faed54db89 g.chr19:42569514C>T ENST00000262895.3 - 2 104 c.105G>A c.(103-105)gtG>gtA p.V35V GRIK5_ENST00000301218.4_Silent_p.V35V|GRIK5_ENST00000593562.1_Silent_p.V35V NM_002088.4 NP_002079.3 Q16478 GRIK5_HUMAN glutamate receptor, ionotropic, kainate 5 35 cell junction|postsynaptic membrane extracellular-glutamate-gated ion channel activity|kainate selective glutamate receptor activity p.V35V(2) breast(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|liver(1)|lung(11)|ovary(2)|prostate(3)|skin(1)|upper_aerodigestive_tract(1) 35 Prostate(69;0.059) L-Glutamic Acid(DB00142) CGCGGCCACACACTGTCTGAT 0.607000 4 84 0 0 0.184627 0 0 KLHL3 26249 broad.mit.edu 37 5 136963996 136963996 + Silent SNP C C T TCGA-EJ-5542-01A-01D-1576-08 TCGA-EJ-5542-10A-01D-1577-08 Untested Somatic Phase_I WXS none Illumina GAIIx ce0298b4-8456-4369-8916-c951b956dcc6 dd83711f-fea0-42e2-93ca-58faed54db89 g.chr5:136963996C>T ENST00000508657.1 - 13 2199 c.1485G>A c.(1483-1485)cgG>cgA p.R495R KLHL3_ENST00000309755.4_Silent_p.R527R|KLHL3_ENST00000506491.1_Silent_p.R445R|KLHL3_ENST00000506873.1_5'UTR|KLHL3_ENST00000541417.1_3'UTR NM_001257194.1 NP_001244123.1 Q9UH77 KLHL3_HUMAN kelch-like family member 3 527 cytoplasm|cytoskeleton actin binding|structural molecule activity breast(2)|endometrium(3)|kidney(2)|large_intestine(4)|lung(8)|stomach(1)|upper_aerodigestive_tract(1) 21 all_hematologic(541;3.67e-07)|Breast(839;7.61e-05)|Prostate(281;0.000825)|Ovarian(839;0.0481)|all_lung(232;0.198) KIRC - Kidney renal clear cell carcinoma(527;0.0101)|Kidney(363;0.0233) GBM - Glioblastoma multiforme(465;0.0223) CTGCGTTGCGCCGGCACATGT 0.537000 23 219 0 0 0.639603 0 0 ABCA12 26154 broad.mit.edu 37 2 215890407 215890407 + Missense_Mutation SNP A A G TCGA-EJ-5542-01A-01D-1576-08 TCGA-EJ-5542-10A-01D-1577-08 Untested Somatic Phase_I WXS none Illumina GAIIx ce0298b4-8456-4369-8916-c951b956dcc6 dd83711f-fea0-42e2-93ca-58faed54db89 g.chr2:215890407A>G ENST00000272895.7 - 11 1496 c.1277T>C c.(1276-1278)cTa>cCa p.L426P ABCA12_ENST00000389661.4_Missense_Mutation_p.L108P|AC072062.3_ENST00000437897.3_RNA NM_173076.2 NP_775099.2 Q86UK0 ABCAC_HUMAN ATP-binding cassette, sub-family A (ABC1), member 12 426 cellular homeostasis|lipid transport integral to membrane ATP binding|ATPase activity NS(3)|breast(5)|central_nervous_system(2)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(45)|lung(44)|ovary(8)|pancreas(2)|prostate(4)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1) 139 Renal(323;0.127) Epithelial(149;1.01e-05)|all cancers(144;0.00112)|LUSC - Lung squamous cell carcinoma(224;0.00829)|Lung(261;0.011) TTTTGATTTTAGGACTTCAGG 0.289000 3 183 0 0 0.115264 0 0 PRG3 10394 broad.mit.edu 37 11 57147239 57147239 + Missense_Mutation SNP C C T TCGA-EJ-5542-01A-01D-1576-08 TCGA-EJ-5542-10A-01D-1577-08 Untested Somatic Phase_I WXS none Illumina GAIIx ce0298b4-8456-4369-8916-c951b956dcc6 dd83711f-fea0-42e2-93ca-58faed54db89 g.chr11:57147239C>T ENST00000287143.2 - 3 212 c.103G>A c.(103-105)Gac>Aac p.D35N NM_006093.3 NP_006084.2 Q9Y2Y8 PRG3_HUMAN proteoglycan 3 35 basophil activation|histamine biosynthetic process|immune response|leukotriene biosynthetic process|negative regulation of translation|neutrophil activation|positive regulation of interleukin-8 biosynthetic process|superoxide anion generation sugar binding p.D35N(1) large_intestine(3)|lung(5)|prostate(3)|skin(1)|upper_aerodigestive_tract(1) 13 TGGCCTAGGTCTGCCTGTGTC 0.557000 45 115 0 0 0.870114 0 0 CCDC74A 90557 broad.mit.edu 37 2 132290465 132290465 + Missense_Mutation SNP G G T rs149945224 TCGA-EJ-5542-01A-01D-1576-08 TCGA-EJ-5542-10A-01D-1577-08 Untested Somatic Phase_I WXS none Illumina GAIIx ce0298b4-8456-4369-8916-c951b956dcc6 dd83711f-fea0-42e2-93ca-58faed54db89 g.chr2:132290465G>T ENST00000295171.6 + 6 1043 c.905G>T c.(904-906)gGg>gTg p.G302V CCDC74A_ENST00000467992.2_3'UTR|CCDC74A_ENST00000409856.3_Missense_Mutation_p.G236V NM_001258304.1|NM_001258305.1|NM_138770.2 NP_001245233.1|NP_001245234.1|NP_620125.1 Q96AQ1 CC74A_HUMAN coiled-coil domain containing 74A 302 G -> R (in dbSNP:rs13660). p.G302V(1) endometrium(4)|large_intestine(3)|lung(9)|prostate(1)|skin(1)|upper_aerodigestive_tract(1) 19 CTCCTGGAAGGGAGCCAGAGG 0.692000 11 110 3.07112e-06 3.71284e-06 0.387290 1 0 RSPH6A 81492 broad.mit.edu 37 19 46299171 46299171 + Nonsense_Mutation SNP C C A TCGA-EJ-5542-01A-01D-1576-08 TCGA-EJ-5542-10A-01D-1577-08 Untested Somatic Phase_I WXS none Illumina GAIIx ce0298b4-8456-4369-8916-c951b956dcc6 dd83711f-fea0-42e2-93ca-58faed54db89 g.chr19:46299171C>A ENST00000221538.3 - 6 2252 c.2110G>T c.(2110-2112)Gag>Tag p.E704* RSPH6A_ENST00000600188.1_Nonsense_Mutation_p.E440*|RSPH6A_ENST00000597055.1_3'UTR NM_030785.3 NP_110412.1 Q9H0K4 RSH6A_HUMAN radial spoke head 6 homolog A (Chlamydomonas) 704 Glu-rich. intracellular central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(6)|liver(1)|lung(14)|ovary(2)|prostate(1)|skin(1)|urinary_tract(2) 32 tcgccctcctcctcctcctcT 0.592000 4 185 0.150653 0.164904 0.150653 1 0 MYT1 4661 broad.mit.edu 37 20 62839353 62839353 + Silent SNP A A G TCGA-EJ-5542-01A-01D-1576-08 TCGA-EJ-5542-10A-01D-1577-08 Untested Somatic Phase_I WXS none Illumina GAIIx ce0298b4-8456-4369-8916-c951b956dcc6 dd83711f-fea0-42e2-93ca-58faed54db89 g.chr20:62839353A>G ENST00000536311.1 + 7 1168 c.804A>G c.(802-804)gaA>gaG p.E268E MYT1_ENST00000360149.4_Intron|MYT1_ENST00000328439.1_Silent_p.E268E Q01538 MYT1_HUMAN myelin transcription factor 1 268 Glu-rich. cell differentiation|nervous system development nucleus DNA binding|protein binding|sequence-specific DNA binding transcription factor activity|zinc ion binding p.E268E(2) breast(4)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(12)|liver(1)|lung(17)|ovary(5)|prostate(2)|skin(2)|soft_tissue(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 55 all_cancers(38;1.82e-11)|all_epithelial(29;3.3e-13)|Lung NSC(23;5.21e-10)|all_lung(23;1.92e-09) aggaggaggaagaggaggagg 0.572000 3 24 0 0 0.150653 0 0 EXD3 54932 broad.mit.edu 37 9 140243660 140243660 + Missense_Mutation SNP C C G TCGA-EJ-5542-01A-01D-1576-08 TCGA-EJ-5542-10A-01D-1577-08 Untested Somatic Phase_I WXS none Illumina GAIIx ce0298b4-8456-4369-8916-c951b956dcc6 dd83711f-fea0-42e2-93ca-58faed54db89 g.chr9:140243660C>G ENST00000340951.4 - 16 1927 c.1732G>C c.(1732-1734)Gac>Cac p.D578H EXD3_ENST00000342129.4_Missense_Mutation_p.D258H NM_017820.3 NP_060290.3 Q8N9H8 MUT7_HUMAN exonuclease 3'-5' domain containing 3 578 nucleobase, nucleoside, nucleotide and nucleic acid metabolic process intracellular 3'-5' exonuclease activity|nucleic acid binding p.D578H(1) NS(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(5)|prostate(2) 12 CCAGCCAGGTCCTCCGACAGG 0.701000 5 17 0 0 0.184627 0 0 MCL1 4170 broad.mit.edu 37 1 150551355 150551355 + Missense_Mutation SNP C C T TCGA-EJ-5542-01A-01D-1576-08 TCGA-EJ-5542-10A-01D-1577-08 Untested Somatic Phase_I WXS none Illumina GAIIx ce0298b4-8456-4369-8916-c951b956dcc6 dd83711f-fea0-42e2-93ca-58faed54db89 g.chr1:150551355C>T ENST00000369026.2 - 1 711 c.652G>A c.(652-654)Gat>Aat p.D218N MCL1_ENST00000307940.3_Missense_Mutation_p.D218N NM_001197320.1|NM_021960.4 NP_001184249.1|NP_068779.1 Q07820 MCL1_HUMAN myeloid cell leukemia sequence 1 (BCL2-related) 218 anti-apoptosis|apoptosis|cell fate determination|cellular homeostasis|multicellular organismal development|response to cytokine stimulus integral to membrane|mitochondrial outer membrane|nucleoplasm BH3 domain binding|protein binding|protein channel activity|protein heterodimerization activity p.D218N(1) endometrium(2)|large_intestine(1)|lung(4)|prostate(1) 8 all_cancers(9;1.69e-53)|all_epithelial(9;1.95e-43)|all_lung(15;1.09e-34)|Lung NSC(24;4.04e-31)|Breast(34;0.000326)|Lung SC(34;0.00471)|Ovarian(49;0.0167)|all_hematologic(923;0.0395)|Hepatocellular(266;0.108)|Melanoma(130;0.128)|Colorectal(459;0.171) UCEC - Uterine corpus endometrioid carcinoma (35;0.0241)|Epithelial(6;3.18e-23)|all cancers(9;1.79e-22)|OV - Ovarian serous cystadenocarcinoma(6;1.13e-14)|BRCA - Breast invasive adenocarcinoma(12;0.000503)|LUSC - Lung squamous cell carcinoma(543;0.171)|STAD - Stomach adenocarcinoma(528;0.206) TGCACGCCATCCCCAACCCGT 0.622000 34 92 0 0 0.779181 0 0 OR10H2 26538 broad.mit.edu 37 19 15839017 15839017 + Missense_Mutation SNP T T C TCGA-EJ-5542-01A-01D-1576-08 TCGA-EJ-5542-10A-01D-1577-08 Untested Somatic Phase_I WXS none Illumina GAIIx ce0298b4-8456-4369-8916-c951b956dcc6 dd83711f-fea0-42e2-93ca-58faed54db89 g.chr19:15839017T>C ENST00000305899.3 + 1 184 c.164T>C c.(163-165)cTc>cCc p.L55P NM_013939.2 NP_039227.1 O60403 O10H2_HUMAN olfactory receptor, family 10, subfamily H, member 2 55 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity breast(2)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(6)|lung(10)|ovary(2)|skin(3)|stomach(1) 27 all_hematologic(1;0.0517)|Acute lymphoblastic leukemia(2;0.074) GAGCGCAGCCTCCACACGCCC 0.612000 4 196 0 0 0.184627 0 0 FBLIM1 54751 broad.mit.edu 37 1 16091554 16091554 + Missense_Mutation SNP G G C TCGA-EJ-5542-01A-01D-1576-08 TCGA-EJ-5542-10A-01D-1577-08 Untested Somatic Phase_I WXS none Illumina GAIIx ce0298b4-8456-4369-8916-c951b956dcc6 dd83711f-fea0-42e2-93ca-58faed54db89 g.chr1:16091554G>C ENST00000375766.3 + 3 716 c.76G>C c.(76-78)Gtg>Ctg p.V26L FBLIM1_ENST00000332305.5_Missense_Mutation_p.V26L|FBLIM1_ENST00000441801.2_Missense_Mutation_p.V26L|FBLIM1_ENST00000375771.1_Missense_Mutation_p.V26L|FBLIM1_ENST00000400773.1_Missense_Mutation_p.V26L NM_017556.2 NP_060026.2 Q8WUP2 FBLI1_HUMAN filamin binding LIM protein 1 26 Filamin-binding. cell adhesion|cell junction assembly|regulation of cell shape cell cortex|cytoskeleton|cytosol|focal adhesion|intracellular membrane-bounded organelle zinc ion binding p.V26L(1) large_intestine(2)|lung(4)|prostate(4)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2) 16 Colorectal(325;0.000257)|Breast(348;0.000278)|Lung NSC(340;0.000419)|Renal(390;0.000518)|all_lung(284;0.000567)|Ovarian(437;0.0129)|Myeloproliferative disorder(586;0.0255) UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;5.96e-07)|COAD - Colon adenocarcinoma(227;3.56e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000115)|KIRC - Kidney renal clear cell carcinoma(229;0.00244)|READ - Rectum adenocarcinoma(331;0.0649)|STAD - Stomach adenocarcinoma(313;0.138) CGATGTGGCCGTGGCGGAGGA 0.672000 36 103 0 0 0.812448 0 0 FMN2 56776 broad.mit.edu 37 1 240370947 240370947 + Silent SNP G G A rs6143701 TCGA-EJ-5542-01A-01D-1576-08 TCGA-EJ-5542-10A-01D-1577-08 Untested Somatic Phase_I WXS none Illumina GAIIx ce0298b4-8456-4369-8916-c951b956dcc6 dd83711f-fea0-42e2-93ca-58faed54db89 g.chr1:240370947G>A ENST00000319653.9 + 5 3065 c.2835G>A c.(2833-2835)ccG>ccA p.P945P NM_020066.4 NP_064450.3 Q9NZ56 FMN2_HUMAN formin 2 945 FH1.|Pro-rich. actin cytoskeleton organization|establishment of meiotic spindle localization|intracellular signal transduction|meiotic chromosome movement towards spindle pole|meiotic metaphase I|multicellular organismal development|oogenesis|polar body extrusion after meiotic divisions actin binding NS(1)|breast(7)|central_nervous_system(6)|cervix(1)|endometrium(14)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(13)|lung(87)|ovary(6)|pancreas(3)|prostate(12)|skin(7)|stomach(2)|upper_aerodigestive_tract(6)|urinary_tract(2) 178 Ovarian(103;0.127) all_cancers(173;0.013) OV - Ovarian serous cystadenocarcinoma(106;0.0106) TACCTCCTCCGCCCCCTCTAC 0.692000 4 72 0 0 0.150653 0 0 SELENBP1 8991 broad.mit.edu 37 1 151341656 151341656 + Missense_Mutation SNP G G A TCGA-EJ-5542-01A-01D-1576-08 TCGA-EJ-5542-10A-01D-1577-08 Untested Somatic Phase_I WXS none Illumina GAIIx ce0298b4-8456-4369-8916-c951b956dcc6 dd83711f-fea0-42e2-93ca-58faed54db89 g.chr1:151341656G>A ENST00000426705.2 - 4 454 c.310C>T c.(310-312)Cgg>Tgg p.R104W SELENBP1_ENST00000473693.1_5'UTR|SELENBP1_ENST00000447402.3_Intron|SELENBP1_ENST00000368868.5_Missense_Mutation_p.R62W|SELENBP1_ENST00000435071.1_5'UTR NM_001258289.1 NP_001245218.1 Q13228 SBP1_HUMAN selenium binding protein 1 62 protein transport cytosol|membrane|nucleolus protein binding|selenium binding p.R62W(1) breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(2)|lung(11)|prostate(1)|urinary_tract(1) 20 Lung SC(34;0.00471)|Ovarian(49;0.00871)|Hepatocellular(266;0.0997)|all_hematologic(923;0.127)|Melanoma(130;0.185) UCEC - Uterine corpus endometrioid carcinoma (35;0.112)|LUSC - Lung squamous cell carcinoma(543;0.181) ATGGGCAGCCGGTGGATGACC 0.602000 4 115 0 0 0.150653 0 0 RCOR1 23186 broad.mit.edu 37 14 103174893 103174893 + Missense_Mutation SNP G G A TCGA-EJ-5542-01A-01D-1576-08 TCGA-EJ-5542-10A-01D-1577-08 Untested Somatic Phase_I WXS none Illumina GAIIx ce0298b4-8456-4369-8916-c951b956dcc6 dd83711f-fea0-42e2-93ca-58faed54db89 g.chr14:103174893G>A ENST00000262241.6 + 6 978 c.752G>A c.(751-753)cGg>cAg p.R251Q RCOR1_ENST00000570597.1_Missense_Mutation_p.R248Q NM_015156.3 NP_055971.2 Q9UKL0 RCOR1_HUMAN REST corepressor 1 248 Interaction with HDAC1. blood coagulation|histone H4 deacetylation|interspecies interaction between organisms transcriptional repressor complex protein binding|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in negative regulation of transcription|transcription regulatory region DNA binding NS(1)|central_nervous_system(1)|endometrium(1)|large_intestine(1)|lung(6)|ovary(1)|upper_aerodigestive_tract(1) 12 CGCCATGCCCGGAAACAAAAA 0.463000 5 337 0 0 0.184627 0 0 TUBBP5 0 broad.mit.edu 37 9 141070695 141070695 + RNA SNP G G A TCGA-EJ-5542-01A-01D-1576-08 TCGA-EJ-5542-10A-01D-1577-08 Untested Somatic Phase_I WXS none Illumina GAIIx ce0298b4-8456-4369-8916-c951b956dcc6 dd83711f-fea0-42e2-93ca-58faed54db89 g.chr9:141070695G>A ENST00000503395.1 + 0 1470 p.R105H(1) GCCAAGGGACGCTACACCGAA 0.592000 4 13 0 0 0.184627 0 0 NLRC3 197358 broad.mit.edu 37 16 3613171 3613171 + RNA SNP G G A TCGA-EJ-5542-01A-01D-1576-08 TCGA-EJ-5542-10A-01D-1577-08 Untested Somatic Phase_I WXS none Illumina GAIIx ce0298b4-8456-4369-8916-c951b956dcc6 dd83711f-fea0-42e2-93ca-58faed54db89 g.chr16:3613171G>A ENST00000301749.7 - 0 2172 NLRC3_ENST00000419350.2_RNA|NLRC3_ENST00000324659.8_RNA|NLRC3_ENST00000603507.1_RNA|NLRC3_ENST00000359128.5_RNA|NLRC3_ENST00000448023.2_RNA NM_178844.2 NP_849172.2 Q7RTR2 NLRC3_HUMAN NLR family, CARD domain containing 3 I-kappaB kinase/NF-kappaB cascade|negative regulation of NF-kappaB transcription factor activity|T cell activation cytoplasm ATP binding p.S636S(1) breast(1)|central_nervous_system(2)|endometrium(1)|kidney(3)|large_intestine(1)|liver(1)|lung(16)|ovary(2)|pancreas(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 34 CCAGGGCCCCGCTCTCCATGG 0.697000 4 13 0 0 0.184627 0 0 PCDHA13 0 broad.mit.edu 37 5 140263465 140263465 + Missense_Mutation SNP C C T TCGA-EJ-5542-01A-01D-1576-08 TCGA-EJ-5542-10A-01D-1577-08 Untested Somatic Phase_I WXS none Illumina GAIIx ce0298b4-8456-4369-8916-c951b956dcc6 dd83711f-fea0-42e2-93ca-58faed54db89 g.chr5:140263465C>T ENST00000289272.2 + 1 1612 c.1612C>T c.(1612-1614)Cgc>Tgc p.R538C PCDHA4_ENST00000530339.1_Intron|PCDHA6_ENST00000529310.1_Intron|PCDHA2_ENST00000526136.1_Intron|PCDHA8_ENST00000531613.1_Intron|PCDHA1_ENST00000394633.3_Intron|PCDHA11_ENST00000398640.2_Intron|PCDHA1_ENST00000504120.2_Intron|PCDHA5_ENST00000529619.1_Intron|PCDHA10_ENST00000307360.5_Intron|PCDHA9_ENST00000532602.1_Intron|PCDHA6_ENST00000527624.1_Intron|PCDHA5_ENST00000529859.1_Intron|PCDHA13_ENST00000409494.1_Missense_Mutation_p.R538C|PCDHA10_ENST00000506939.2_Intron|PCDHA12_ENST00000398631.2_Intron|PCDHA7_ENST00000525929.1_Intron|PCDHA4_ENST00000512229.2_Intron|PCDHA3_ENST00000522353.2_Intron NM_018904.2|NM_031865.1 NP_061727.1|NP_114071.1 p.R538C(1) NS(1)|biliary_tract(2)|breast(3)|central_nervous_system(2)|cervix(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(7)|kidney(2)|large_intestine(18)|liver(3)|lung(23)|ovary(4)|prostate(6)|skin(7)|upper_aerodigestive_tract(2)|urinary_tract(2) 95 KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191) GGTGAGCGCGCGCGACTCTGG 0.682000 5 167 0 0 0.184627 0 0 FAT4 79633 broad.mit.edu 37 4 126337635 126337635 + Missense_Mutation SNP C C G TCGA-EJ-5542-01A-01D-1576-08 TCGA-EJ-5542-10A-01D-1577-08 Untested Somatic Phase_I WXS none Illumina GAIIx ce0298b4-8456-4369-8916-c951b956dcc6 dd83711f-fea0-42e2-93ca-58faed54db89 g.chr4:126337635C>G ENST00000394329.3 + 6 6889 c.6876C>G c.(6874-6876)aaC>aaG p.N2292K FAT4_ENST00000335110.5_Missense_Mutation_p.N590K NM_024582.4 NP_078858.4 Q6V0I7 FAT4_HUMAN FAT atypical cadherin 4 2292 Cadherin 22. homophilic cell adhesion integral to membrane|plasma membrane calcium ion binding p.N2292K(2) NS(6)|autonomic_ganglia(1)|breast(4)|central_nervous_system(3)|cervix(3)|endometrium(27)|haematopoietic_and_lymphoid_tissue(3)|kidney(10)|large_intestine(93)|liver(3)|lung(120)|ovary(9)|pancreas(2)|prostate(21)|skin(31)|stomach(1)|upper_aerodigestive_tract(12)|urinary_tract(6) 355 GAGGATCTAACAGCAAACTCT 0.413000 118 391 0 0 0.870114 0 0 ANKRD26 22852 broad.mit.edu 37 10 27329050 27329050 + Missense_Mutation SNP T T C TCGA-EJ-5542-01A-01D-1576-08 TCGA-EJ-5542-10A-01D-1577-08 Untested Somatic Phase_I WXS none Illumina GAIIx ce0298b4-8456-4369-8916-c951b956dcc6 dd83711f-fea0-42e2-93ca-58faed54db89 g.chr10:27329050T>C ENST00000376087.4 - 21 2384 c.2219A>G c.(2218-2220)gAa>gGa p.E740G ANKRD26_ENST00000376070.3_Missense_Mutation_p.E297G|ANKRD26_ENST00000436985.2_Missense_Mutation_p.E756G NM_001256053.1|NM_014915.2 NP_001242982.1|NP_055730.2 Q9UPS8 ANR26_HUMAN ankyrin repeat domain 26 739 centrosome p.E740G(1) breast(4)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(14)|lung(30)|ovary(1)|pancreas(1)|prostate(3)|skin(2)|urinary_tract(2) 70 TTTTTTAAGTTCTAATAATCT 0.294000 7 102 0 0 0.307466 0 0 MLLT1 4298 broad.mit.edu 37 19 6216424 6216424 + Silent SNP C C T TCGA-EJ-5542-01A-01D-1576-08 TCGA-EJ-5542-10A-01D-1577-08 Untested Somatic Phase_I WXS none Illumina GAIIx ce0298b4-8456-4369-8916-c951b956dcc6 dd83711f-fea0-42e2-93ca-58faed54db89 g.chr19:6216424C>T ENST00000252674.7 - 8 1462 c.1299G>A c.(1297-1299)agG>agA p.R433R MLLT1_ENST00000585588.1_5'UTR NM_005934.3 NP_005925.2 Q03111 ENL_HUMAN myeloid/lymphoid or mixed-lineage leukemia (trithorax homolog, Drosophila); translocated to, 1 433 regulation of transcription, DNA-dependent|transcription from RNA polymerase II promoter cytoplasm|nucleolus DNA binding|protein binding p.R433R(1) endometrium(3)|kidney(3)|large_intestine(2)|lung(5)|prostate(2)|skin(2) 17 ACCTGGAGTCCCTCCCCGGGT 0.711000 T MLL AL 3 15 0 0 0.115264 0 0 DOCK2 1794 broad.mit.edu 37 5 169483749 169483749 + Missense_Mutation SNP G G A TCGA-EJ-5542-01A-01D-1576-08 TCGA-EJ-5542-10A-01D-1577-08 Untested Somatic Phase_I WXS none Illumina GAIIx ce0298b4-8456-4369-8916-c951b956dcc6 dd83711f-fea0-42e2-93ca-58faed54db89 g.chr5:169483749G>A ENST00000256935.8 + 43 4437 c.4357G>A c.(4357-4359)Gta>Ata p.V1453I DOCK2_ENST00000520908.1_Missense_Mutation_p.V945I|DOCK2_ENST00000540750.1_Missense_Mutation_p.V514I|DOCK2_ENST00000523351.1_3'UTR NM_004946.2 NP_004937.1 Q92608 DOCK2_HUMAN dedicator of cytokinesis 2 1453 DHR-2.|Interaction with CRKL. actin cytoskeleton organization|regulation of defense response to virus by virus|viral reproduction cytoskeleton|cytosol|endomembrane system|membrane electron carrier activity|GTP binding|GTPase binding|heme binding|Rac guanyl-nucleotide exchange factor activity|T cell receptor binding p.V1453I(1) NS(2)|breast(5)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(42)|liver(2)|lung(63)|ovary(5)|pancreas(3)|prostate(7)|skin(5)|stomach(2)|upper_aerodigestive_tract(3) 160 Renal(175;0.000159)|Lung NSC(126;0.0221)|all_lung(126;0.0337) Medulloblastoma(196;0.0399)|all_neural(177;0.0966) Kidney(164;7.53e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525) CAGGGGGACCGTAGACCCAGA 0.557000 18 50 0 0 0.539581 0 0 LOXL2 4017 broad.mit.edu 37 8 23191091 23191091 + Missense_Mutation SNP C C T TCGA-EJ-5542-01A-01D-1576-08 TCGA-EJ-5542-10A-01D-1577-08 Untested Somatic Phase_I WXS none Illumina GAIIx ce0298b4-8456-4369-8916-c951b956dcc6 dd83711f-fea0-42e2-93ca-58faed54db89 g.chr8:23191091C>T ENST00000389131.3 - 5 1158 c.789G>A c.(787-789)atG>atA p.M263I NM_002318.2 NP_002309.1 Q9Y4K0 LOXL2_HUMAN lysyl oxidase-like 2 263 SRCR 2. aging|cell adhesion|protein modification process extracellular space|membrane copper ion binding|electron carrier activity|oxidoreductase activity, acting on the CH-NH2 group of donors, oxygen as acceptor|scavenger receptor activity p.M263I(1) breast(2)|endometrium(4)|kidney(3)|large_intestine(12)|lung(5)|ovary(2)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 35 Prostate(55;0.0453)|Breast(100;0.143) Colorectal(74;0.0288)|COAD - Colon adenocarcinoma(73;0.096) CGGTGCAGTCCATGGAGAATG 0.612000 24 61 0 0 0.654019 0 0 SH3BP1 23616 broad.mit.edu 37 22 38039665 38039665 + Missense_Mutation SNP C C A TCGA-EJ-5542-01A-01D-1576-08 TCGA-EJ-5542-10A-01D-1577-08 Untested Somatic Phase_I WXS none Illumina GAIIx ce0298b4-8456-4369-8916-c951b956dcc6 dd83711f-fea0-42e2-93ca-58faed54db89 g.chr22:38039665C>A ENST00000599616.1 + 5 296 c.296C>A c.(295-297)aCc>aAc p.T99N SH3BP1_ENST00000357436.4_Missense_Mutation_p.T163N|SH3BP1_ENST00000495174.1_3'UTR|SH3BP1_ENST00000336738.5_Missense_Mutation_p.T163N|Z83844.1_ENST00000456099.1_RNA|SH3BP1_ENST00000442465.2_Missense_Mutation_p.T163N Q9Y3L3 3BP1_HUMAN SH3-domain binding protein 1 163 BAR. signal transduction cytoplasm GTPase activator activity|SH3 domain binding p.T163N(1) breast(1)|central_nervous_system(1)|kidney(1)|large_intestine(1)|lung(5)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 13 Melanoma(58;0.0574) AGTCAGGCAACCAAGAATTCA 0.587000 OREG0026546 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 4 78 0.150653 0.164904 0.150653 1 0 TYW1 55253 broad.mit.edu 37 7 66548462 66548462 + Missense_Mutation SNP C C A TCGA-EJ-5542-01A-01D-1576-08 TCGA-EJ-5542-10A-01D-1577-08 Untested Somatic Phase_I WXS none Illumina GAIIx ce0298b4-8456-4369-8916-c951b956dcc6 dd83711f-fea0-42e2-93ca-58faed54db89 g.chr7:66548462C>A ENST00000359626.5 + 11 1484 c.1320C>A c.(1318-1320)gaC>gaA p.D440E NM_018264.2 NP_060734.2 Q9NV66 TYW1_HUMAN tRNA-yW synthesizing protein 1 homolog (S. cerevisiae) 440 tRNA processing 4 iron, 4 sulfur cluster binding|FMN binding|iron ion binding|oxidoreductase activity p.D440E(1) breast(1)|endometrium(8)|kidney(10)|large_intestine(4)|lung(13)|ovary(1)|prostate(2)|skin(3)|stomach(2)|urinary_tract(2) 46 Lung NSC(55;0.0846)|all_lung(88;0.183) GGAAGATGGACCAGCCTGAAA 0.443000 5 151 0.000602214 0.000696848 0.184627 1 0 DMRT2 10655 broad.mit.edu 37 9 1053761 1053761 + Missense_Mutation SNP C C T TCGA-EJ-5542-01A-01D-1576-08 TCGA-EJ-5542-10A-01D-1577-08 Untested Somatic Phase_I WXS none Illumina GAIIx ce0298b4-8456-4369-8916-c951b956dcc6 dd83711f-fea0-42e2-93ca-58faed54db89 g.chr9:1053761C>T ENST00000259622.6 + 2 565 c.565C>T c.(565-567)Cgc>Tgc p.R189C DMRT2_ENST00000412350.2_Missense_Mutation_p.R189C|DMRT2_ENST00000382251.3_Missense_Mutation_p.R189C|DMRT2_ENST00000358146.2_Missense_Mutation_p.R189C|DMRT2_ENST00000382255.3_Missense_Mutation_p.R189C|DMRT2_ENST00000302441.6_Missense_Mutation_p.R189C Q9Y5R5 DMRT2_HUMAN doublesex and mab-3 related transcription factor 2 189 male gonad development|sex determination nucleus DNA binding|metal ion binding|sequence-specific DNA binding transcription factor activity p.R189C(2) large_intestine(1)|lung(1)|prostate(2) 4 all_lung(10;1.49e-09)|Lung NSC(10;1.86e-09) Lung(218;0.0195)|GBM - Glioblastoma multiforme(50;0.0388) TAATTTCGAGCGCAAAGCTGT 0.448000 14 158 0 0 0.479597 0 0 PRAMEF7 441871 broad.mit.edu 37 1 12979764 12979764 + Missense_Mutation SNP G G A TCGA-EJ-5542-01A-01D-1576-08 TCGA-EJ-5542-10A-01D-1577-08 Untested Somatic Phase_I WXS none Illumina GAIIx ce0298b4-8456-4369-8916-c951b956dcc6 dd83711f-fea0-42e2-93ca-58faed54db89 g.chr1:12979764G>A ENST00000361079.2 + 4 1039 c.956G>A c.(955-957)cGt>cAt p.R319H PRAME family member 7 p.R319H(2) endometrium(2)|kidney(5)|large_intestine(3)|lung(4)|prostate(2)|upper_aerodigestive_tract(2) 18 Ovarian(185;0.249) Renal(390;0.000469)|Lung NSC(185;0.00143)|all_lung(284;0.00181)|Colorectal(325;0.00215)|Breast(348;0.00224)|Myeloproliferative disorder(586;0.0393)|Hepatocellular(190;0.0623)|Ovarian(437;0.0731) UCEC - Uterine corpus endometrioid carcinoma (279;0.00812)|Colorectal(212;4.88e-06)|Kidney(185;4.89e-05)|KIRC - Kidney renal clear cell carcinoma(229;0.000194)|COAD - Colon adenocarcinoma(227;0.000241)|BRCA - Breast invasive adenocarcinoma(304;0.000293)|STAD - Stomach adenocarcinoma(313;0.0072)|READ - Rectum adenocarcinoma(331;0.0649) CCGAGCATCCGTCAATTAAAG 0.587000 18 213 0 0 0.654019 0 0 RP1-125I3.2 0 broad.mit.edu 37 1 26186960 26186960 + RNA DEL T T - TCGA-EJ-5542-01A-01D-1576-08 TCGA-EJ-5542-10A-01D-1577-08 Untested Somatic Phase_I WXS none Illumina GAIIx ce0298b4-8456-4369-8916-c951b956dcc6 dd83711f-fea0-42e2-93ca-58faed54db89 g.chr1:26186960delT ENST00000455431.1 + 0 263 AATTTTGTAATTTTTTTTTTT 0.552 3 4 --- --- --- --- IGKV1D-8 0 broad.mit.edu 37 2 90259860 90259861 + RNA INS - - C TCGA-EJ-5542-01A-01D-1576-08 TCGA-EJ-5542-10A-01D-1577-08 Untested Somatic Phase_I WXS none Illumina GAIIx ce0298b4-8456-4369-8916-c951b956dcc6 dd83711f-fea0-42e2-93ca-58faed54db89 g.chr2:90259860_90259861insC ENST00000471857.1 + 0 236 AATTTACTCAGCCAATGTGCTC 0.480 7 286 --- --- --- --- AC098823.3 0 broad.mit.edu 37 2 231563940 231563947 + RNA DEL GAAGGAAG GAAGGAAG - TCGA-EJ-5542-01A-01D-1576-08 TCGA-EJ-5542-10A-01D-1577-08 Untested Somatic Phase_I WXS none Illumina GAIIx ce0298b4-8456-4369-8916-c951b956dcc6 dd83711f-fea0-42e2-93ca-58faed54db89 g.chr2:231563940_231563947delGAAGGAAG ENST00000415174.1 - 0 207 NR_040038.1 gggagggagagaaggaaggaaggaagga 0.505 2 4 --- --- --- --- ZNF292 23036 broad.mit.edu 37 6 87965133 87965137 + Frame_Shift_Del DEL AGTAA AGTAA - TCGA-EJ-5542-01A-01D-1576-08 TCGA-EJ-5542-10A-01D-1577-08 Untested Somatic Phase_I WXS none Illumina GAIIx ce0298b4-8456-4369-8916-c951b956dcc6 dd83711f-fea0-42e2-93ca-58faed54db89 g.chr6:87965133_87965137delAGTAA ENST00000369577.3 + 8 1829_1833 c.1786_1790delAGTAA c.(1786-1791)afs p.SK596fs ZNF292_ENST00000339907.4_Frame_Shift_Del_p.SK591fs NM_015021.1 NP_055836.1 O60281 ZN292_HUMAN zinc finger protein 292 596 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding NS(1)|breast(4)|central_nervous_system(1)|endometrium(16)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(27)|lung(21)|ovary(4)|prostate(6)|upper_aerodigestive_tract(1)|urinary_tract(2) 89 all_cancers(76;3.82e-09)|Prostate(29;1.34e-10)|Acute lymphoblastic leukemia(125;2.17e-10)|all_hematologic(105;1.08e-06)|all_epithelial(107;5.31e-05) BRCA - Breast invasive adenocarcinoma(108;0.0199) TAAACAATCTAGTAAAGAGAGACTA 0.361 10 76 --- --- --- --- AGAP11 119385 broad.mit.edu 37 10 88767684 88767686 + RNA DEL TCT TCT - rs71019446 TCGA-EJ-5542-01A-01D-1576-08 TCGA-EJ-5542-10A-01D-1577-08 Untested Somatic Phase_I WXS none Illumina GAIIx ce0298b4-8456-4369-8916-c951b956dcc6 dd83711f-fea0-42e2-93ca-58faed54db89 g.chr10:88767684_88767686delTCT ENST00000444431.1 + 0 2711 RP11-96C23.14_ENST00000444180.3_RNA|RP11-96C23.5_ENST00000433214.2_RNA Q8TF27 AGA11_HUMAN ankyrin repeat and GTPase domain Arf GTPase activating protein 11 regulation of ARF GTPase activity ARF GTPase activator activity|zinc ion binding AGAAAATGTATCttttttttttt 0.414 2 4 --- --- --- --- WNT10B 7480 broad.mit.edu 37 12 49363901 49363902 + Frame_Shift_Ins INS - - GGGG rs143694346 by1000genomes TCGA-EJ-5542-01A-01D-1576-08 TCGA-EJ-5542-10A-01D-1577-08 Untested Somatic Phase_I WXS none Illumina GAIIx ce0298b4-8456-4369-8916-c951b956dcc6 dd83711f-fea0-42e2-93ca-58faed54db89 g.chr12:49363901_49363902insGGGG ENST00000301061.4 - 3 655_656 c.307_308insCCCC c.(307-309)gccfs p.A103fs WNT10B_ENST00000407467.1_Frame_Shift_Ins_p.A103fs|WNT10B_ENST00000403957.1_Frame_Shift_Ins_p.A103fs NM_003394.3 NP_003385.2 O00744 WN10B_HUMAN wingless-type MMTV integration site family, member 10B 103 axis specification|bone trabecula formation|canonical Wnt receptor signaling pathway|cellular response to retinoic acid|chondrocyte differentiation|female gonad development|hemopoietic stem cell proliferation|midbrain-hindbrain boundary development|myoblast cell differentiation involved in skeletal muscle regeneration|negative regulation of epithelial cell proliferation|negative regulation of fat cell differentiation|neuron differentiation|positive regulation of anagen|positive regulation of apoptosis|positive regulation of bone mineralization|positive regulation of cell proliferation|positive regulation of epithelial cell differentiation|positive regulation of osteoblast differentiation|protein stabilization|regulation of skeletal muscle tissue development|skeletal muscle fiber development|smoothened signaling pathway|Wnt receptor signaling pathway, calcium modulating pathway extracellular space|plasma membrane|proteinaceous extracellular matrix G-protein-coupled receptor binding|signal transducer activity central_nervous_system(1)|large_intestine(5)|lung(12)|prostate(1)|skin(4) 23 GTGGTGCGGCAGGCGGCCGCCG 0.752 4 4 --- --- --- ---