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 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 0.408 33 452 --- --- --- --- 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 0.622 34 92 --- --- --- --- 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 0.512 4 221 --- --- --- --- 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 0.393 3 175 --- --- --- --- IGKV1-17 28937 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 0.498 66 255 --- --- --- --- 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 0.692 11 110 --- --- --- --- PIKFYVE 200576 broad.mit.edu 37 2 209190233 209190233 + 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.chr2:209190233G>T ENST00000264380.4 + 20 2856 c.2698G>T c.(2698-2700)Ggg>Tgg p.G900W NM_015040.3 NP_055855.2 Q9Y2I7 FYV1_HUMAN phosphoinositide kinase, FYVE finger containing 900 cellular protein metabolic process|intracellular signal transduction|protein localization to nucleus|retrograde transport, endosome to Golgi early endosome membrane|membrane raft 1-phosphatidylinositol-3-phosphate 5-kinase activity|1-phosphatidylinositol-4-phosphate 5-kinase activity|ATP binding|metal ion binding|protein binding NS(1)|autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|endometrium(14)|kidney(6)|large_intestine(25)|lung(40)|ovary(7)|pancreas(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(2) 107 AGGGCATGAGGGGGCTGTCCA 0.498 4 183 --- --- --- --- 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 0.413 118 391 --- --- --- --- 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_ENST00000336098.3_Silent_p.A124A|FGG_ENST00000407946.1_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 0.299 28 66 --- --- --- --- 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_ENST00000506491.1_Silent_p.R445R|KLHL3_ENST00000541417.1_3'UTR|KLHL3_ENST00000309755.4_Silent_p.R527R|KLHL3_ENST00000506873.1_5'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 0.537 23 219 --- --- --- --- PCDHA3 56145 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_ENST00000504120.2_Intron|PCDHA1_ENST00000394633.3_Intron|PCDHA2_ENST00000520672.2_Intron|PCDHA3_ENST00000532566.2_Silent_p.S743S|PCDHA2_ENST00000526136.1_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 0.637 5 288 --- --- --- --- PCDHA7 56141 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_ENST00000504120.2_Intron|PCDHA4_ENST00000512229.2_Intron|PCDHA1_ENST00000394633.3_Intron|PCDHA5_ENST00000529859.1_Intron|PCDHA6_ENST00000529310.1_Intron|PCDHA4_ENST00000530339.1_Intron|PCDHA6_ENST00000527624.1_Intron|PCDHA5_ENST00000529619.1_Intron|PCDHA2_ENST00000526136.1_Intron|PCDHA7_ENST00000378125.3_Missense_Mutation_p.T390M|PCDHA3_ENST00000522353.2_Intron 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 0.542 6 293 --- --- --- --- PCDHA13 56136 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 PCDHA13_ENST00000409494.1_Missense_Mutation_p.R538C|PCDHA1_ENST00000504120.2_Intron|PCDHA6_ENST00000527624.1_Intron|PCDHA4_ENST00000512229.2_Intron|PCDHA9_ENST00000532602.1_Intron|PCDHA5_ENST00000529619.1_Intron|PCDHA12_ENST00000398631.2_Intron|PCDHA6_ENST00000529310.1_Intron|PCDHA4_ENST00000530339.1_Intron|PCDHA7_ENST00000525929.1_Intron|PCDHA5_ENST00000529859.1_Intron|PCDHA3_ENST00000522353.2_Intron|PCDHA1_ENST00000394633.3_Intron|PCDHA11_ENST00000398640.2_Intron|PCDHA10_ENST00000506939.2_Intron|PCDHA2_ENST00000526136.1_Intron|PCDHA8_ENST00000531613.1_Intron|PCDHA10_ENST00000307360.5_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 0.682 5 167 --- --- --- --- 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 0.443 5 151 --- --- --- --- 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 0.612 24 61 --- --- --- --- 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_ENST00000519886.1_Intron|EXTL3_ENST00000523149.1_Missense_Mutation_p.F230S 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 0.577 18 192 --- --- --- --- 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_ENST00000224140.5_Missense_Mutation_p.Q552H|SETX_ENST00000393220.1_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 0.423 4 203 --- --- --- --- 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_ENST00000436985.2_Missense_Mutation_p.E756G|ANKRD26_ENST00000376070.3_Missense_Mutation_p.E297G 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 0.294 7 102 --- --- --- --- 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 0.557 45 115 --- --- --- --- 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 0.602 6 466 --- --- --- --- LRIG3 121227 broad.mit.edu 37 12 59271482 59271482 + 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.chr12:59271482C>A ENST00000320743.3 - 15 2522 c.2236G>T c.(2236-2238)Gca>Tca p.A746S LRIG3_ENST00000379141.4_Missense_Mutation_p.A686S NM_153377.4 NP_700356.2 Q6UXM1 LRIG3_HUMAN leucine-rich repeats and immunoglobulin-like domains 3 746 Ig-like C2-type 3. integral to membrane LRIG3/ROS1(2) breast(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(12)|liver(1)|lung(14)|ovary(1)|prostate(3)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2) 48 GBM - Glioblastoma multiforme(1;1.17e-18) TTGCCTGCTGCAAAAAAGTGC 0.488 T ROS1 NSCLC 4 222 --- --- --- --- 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 CMA1_ENST00000206446.4_Intron|RP11-80A15.1_ENST00000555109.1_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 0.502 94 274 --- --- --- --- 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_ENST00000554628.1_5'UTR|PTPN21_ENST00000328736.3_Missense_Mutation_p.V101M 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 0.413 45 117 --- --- --- --- 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 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 0.353 41 110 --- --- --- --- PDE8A 5151 broad.mit.edu 37 15 85669469 85669469 + 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.chr15:85669469C>A ENST00000310298.4 + 21 2369 c.2117C>A c.(2116-2118)aCt>aAt p.T706N PDE8A_ENST00000557957.1_Missense_Mutation_p.T634N|PDE8A_ENST00000339708.5_Missense_Mutation_p.T660N|PDE8A_ENST00000394553.1_Missense_Mutation_p.T706N O60658 PDE8A_HUMAN phosphodiesterase 8A 706 Catalytic (By similarity). cyclic nucleotide metabolic process|regulation of transcription, DNA-dependent cytosol 3',5'-cyclic-AMP phosphodiesterase activity|metal ion binding|two-component response regulator activity p.T706N(1) NS(1)|central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(4)|lung(8)|ovary(2)|pancreas(1)|prostate(1)|skin(2) 25 Colorectal(223;0.227) BRCA - Breast invasive adenocarcinoma(143;0.0608) GTGATAAACACTATGCTTAGG 0.458 3 135 --- --- --- --- DNM1P46 196968 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 0.607 6 100 --- --- --- --- 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_ENST00000567169.1_Missense_Mutation_p.H198N|ZNF423_ENST00000562871.1_Missense_Mutation_p.H255N|ZNF423_ENST00000535559.1_Missense_Mutation_p.H198N|ZNF423_ENST00000262383.2_Missense_Mutation_p.H315N|ZNF423_ENST00000562520.1_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 0.622 4 112 --- --- --- --- 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_ENST00000263073.6_Silent_p.S1059S|SMG6_ENST00000536871.2_Silent_p.S151S 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 0.453 13 61 --- --- --- --- 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_ENST00000360317.3_Silent_p.A329A|GSDMB_ENST00000394179.1_Silent_p.A324A|GSDMB_ENST00000520542.1_Silent_p.A320A|GSDMB_ENST00000309481.7_Silent_p.A316A|GSDMB_ENST00000418519.1_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 0.567 80 191 --- --- --- --- 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_ENST00000538137.2_Missense_Mutation_p.I1085V|ZNF521_ENST00000584787.1_Missense_Mutation_p.I865V 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 0.532 T PAX5 ALL 7 120 --- --- --- --- 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 0.711 T MLL AL 3 15 --- --- --- --- 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 0.612 4 196 --- --- --- --- 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 0.408 6 93 --- --- --- --- 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 0.647 3 50 --- --- --- --- 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 0.607 4 84 --- --- --- --- 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_ENST00000336738.5_Missense_Mutation_p.T163N|Z83844.1_ENST00000456099.1_RNA|SH3BP1_ENST00000357436.4_Missense_Mutation_p.T163N|SH3BP1_ENST00000495174.1_3'UTR|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 0.587 OREG0026546 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 4 78 --- --- --- --- 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)agtaaafs 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 --- --- --- ---