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 PIP4K2C 79837 broad.mit.edu 37 12 57995053 57995053 + Silent SNP C C T TCGA-BP-4994-01A-01D-1462-08 TCGA-BP-4994-11A-01D-1462-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba489617-cdc3-4e57-9400-1b3ef1d31b31 52c6f47a-69a1-4f55-9cda-c77e7c6e50c7 g.chr12:57995053C>T ENST00000354947.5 + 9 1123 c.1107C>T c.(1105-1107)ttC>ttT p.F369F PIP4K2C_ENST00000422156.3_Silent_p.F321F|PIP4K2C_ENST00000550465.1_Silent_p.F351F|PIP4K2C_ENST00000540759.2_Silent_p.F369F Q8TBX8 PI42C_HUMAN phosphatidylinositol-5-phosphate 4-kinase, type II, gamma 369 PIPK. cytoplasm|membrane 1-phosphatidylinositol-5-phosphate 4-kinase activity|ATP binding|identical protein binding autonomic_ganglia(1)|breast(3)|central_nervous_system(2)|endometrium(2)|kidney(2)|large_intestine(3)|lung(13)|pancreas(2)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1) 33 Melanoma(17;0.122) AGGTCTACTTCATGGGCCTCA 0.468000 13 188 0 0 1 0 0 PCDHA10 56139 broad.mit.edu 37 5 140236489 140236489 + Missense_Mutation SNP C C G TCGA-BP-4994-01A-01D-1462-08 TCGA-BP-4994-11A-01D-1462-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba489617-cdc3-4e57-9400-1b3ef1d31b31 52c6f47a-69a1-4f55-9cda-c77e7c6e50c7 g.chr5:140236489C>G ENST00000307360.5 + 1 856 c.856C>G c.(856-858)Ccc>Gcc p.P286A PCDHA1_ENST00000504120.2_Intron|PCDHA8_ENST00000531613.1_Intron|PCDHA9_ENST00000532602.1_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|PCDHA7_ENST00000525929.1_Intron|PCDHA3_ENST00000522353.2_Intron|PCDHA4_ENST00000512229.2_Intron|PCDHA10_ENST00000506939.2_Missense_Mutation_p.P286A|PCDHA1_ENST00000394633.3_Intron NM_018901.2|NM_031859.1 NP_061724.1|NP_114065.1 NS(1)|breast(11)|cervix(1)|endometrium(11)|kidney(5)|large_intestine(13)|liver(2)|lung(20)|ovary(3)|pancreas(1)|prostate(3)|skin(6)|upper_aerodigestive_tract(2) 79 KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191) TTTGGTCCCACCCACGATAAG 0.358000 18 144 0 0 1 0 0 PFAS 5198 broad.mit.edu 37 17 8169634 8169634 + Silent SNP C C T TCGA-BP-4994-01A-01D-1462-08 TCGA-BP-4994-11A-01D-1462-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba489617-cdc3-4e57-9400-1b3ef1d31b31 52c6f47a-69a1-4f55-9cda-c77e7c6e50c7 g.chr17:8169634C>T ENST00000314666.6 + 22 2917 c.2784C>T c.(2782-2784)tgC>tgT p.C928C PFAS_ENST00000545834.1_Silent_p.C504C NM_012393.2 NP_036525.1 O15067 PUR4_HUMAN phosphoribosylformylglycinamidine synthase 928 'de novo' IMP biosynthetic process|glutamine metabolic process|purine base metabolic process cytosol ATP binding|phosphoribosylformylglycinamidine synthase activity|protein binding central_nervous_system(3)|endometrium(8)|kidney(2)|large_intestine(2)|lung(9)|ovary(3)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(3) 35 L-Glutamic Acid(DB00142)|L-Glutamine(DB00130) CTGGAAATTGCGGGCTACAGG 0.597000 3 57 0 0 1 0 0 SYT8 90019 broad.mit.edu 37 11 1858203 1858203 + Silent SNP C C A TCGA-BP-4994-01A-01D-1462-08 TCGA-BP-4994-11A-01D-1462-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba489617-cdc3-4e57-9400-1b3ef1d31b31 52c6f47a-69a1-4f55-9cda-c77e7c6e50c7 g.chr11:1858203C>A ENST00000341958.3 + 7 1109 c.807C>A c.(805-807)gtC>gtA p.V269V SYT8_ENST00000381968.3_Silent_p.V283V|SYT8_ENST00000535046.1_3'UTR Q8NBV8 SYT8_HUMAN synaptotagmin VIII 283 C2 2. acrosomal vesicle|integral to membrane|plasma membrane|synaptic vesicle transporter activity breast(1)|large_intestine(1)|lung(2)|ovary(1)|skin(1) 6 all_epithelial(84;0.000138)|Breast(177;0.000962)|Ovarian(85;0.0014)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.229) BRCA - Breast invasive adenocarcinoma(625;0.00136)|Lung(200;0.0681)|LUSC - Lung squamous cell carcinoma(625;0.082) ACGTGAAGGTCCAGCTCATGC 0.617000 16 83 1.45105e-14 2.06665e-14 1 1 0 ELMO1 9844 broad.mit.edu 37 7 37382282 37382282 + Missense_Mutation SNP C C T rs146510671 TCGA-BP-4994-01A-01D-1462-08 TCGA-BP-4994-11A-01D-1462-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba489617-cdc3-4e57-9400-1b3ef1d31b31 52c6f47a-69a1-4f55-9cda-c77e7c6e50c7 g.chr7:37382282C>T ENST00000310758.4 - 2 660 c.13G>A c.(13-15)Gcg>Acg p.A5T ELMO1_ENST00000442504.1_Missense_Mutation_p.A5T|ELMO1_ENST00000448602.1_Missense_Mutation_p.A5T NM_001206480.1|NM_014800.10 NP_001193409.1|NP_055615.8 Q92556 ELMO1_HUMAN engulfment and cell motility 1 5 actin cytoskeleton organization|apoptosis|cellular component movement|phagocytosis, engulfment|Rac protein signal transduction|regulation of defense response to virus by virus|viral reproduction cytoskeleton|cytosol|plasma membrane SH3 domain binding p.A5T(1) breast(2)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(11)|liver(2)|lung(28)|ovary(3)|prostate(2)|skin(3)|upper_aerodigestive_tract(1) 58 ACGATGTCCGCGGGTGGCGGC 0.502000 6 257 0 0 1 0 0 ZKSCAN2 342357 broad.mit.edu 37 16 25268247 25268247 + Nonsense_Mutation SNP C C A TCGA-BP-4994-01A-01D-1462-08 TCGA-BP-4994-11A-01D-1462-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba489617-cdc3-4e57-9400-1b3ef1d31b31 52c6f47a-69a1-4f55-9cda-c77e7c6e50c7 g.chr16:25268247C>A ENST00000328086.7 - 1 1005 c.202G>T c.(202-204)Gaa>Taa p.E68* NM_001012981.4 NP_001012999.3 Q63HK3 ZKSC2_HUMAN zinc finger with KRAB and SCAN domains 2 68 SCAN box. viral reproduction nucleus DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding breast(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(8)|lung(15)|ovary(3)|prostate(1)|stomach(2)|upper_aerodigestive_tract(1) 36 GBM - Glioblastoma multiforme(48;0.0378) CAGCAAAGTTCCCAGAGTTTA 0.483000 OREG0023690 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 8 128 0.0381472 0.0426886 1 1 0 CDH8 1006 broad.mit.edu 37 16 61935267 61935267 + Silent SNP T T G TCGA-BP-4994-01A-01D-1462-08 TCGA-BP-4994-11A-01D-1462-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba489617-cdc3-4e57-9400-1b3ef1d31b31 52c6f47a-69a1-4f55-9cda-c77e7c6e50c7 g.chr16:61935267T>G ENST00000577390.1 - 3 1317 c.363A>C c.(361-363)atA>atC p.I121I CDH8_ENST00000299345.6_Silent_p.I121I|CDH8_ENST00000584337.1_Silent_p.I121I|CDH8_ENST00000577730.1_Silent_p.I121I NM_001796.4 NP_001787.2 P55286 CADH8_HUMAN cadherin 8, type 2 121 Cadherin 1. adherens junction organization|cell junction assembly|homophilic cell adhesion integral to membrane|plasma membrane calcium ion binding biliary_tract(1)|breast(3)|cervix(1)|endometrium(7)|kidney(6)|large_intestine(22)|liver(2)|lung(49)|ovary(6)|pancreas(2)|prostate(5)|skin(4)|urinary_tract(4) 112 Ovarian(137;0.0799)|Melanoma(118;0.16) UCEC - Uterine corpus endometrioid carcinoma (183;0.196)|Epithelial(162;0.0155)|all cancers(182;0.0305)|OV - Ovarian serous cystadenocarcinoma(108;0.0499)|BRCA - Breast invasive adenocarcinoma(181;0.249) CAAGTCTTTTTATAGCATGGA 0.428000 5 190 0 0 1 0 0 SLK 9748 broad.mit.edu 37 10 105780244 105780244 + Splice_Site SNP A A G TCGA-BP-4994-01A-01D-1462-08 TCGA-BP-4994-11A-01D-1462-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba489617-cdc3-4e57-9400-1b3ef1d31b31 52c6f47a-69a1-4f55-9cda-c77e7c6e50c7 g.chr10:105780244A>G ENST00000369755.3 + 17 3866 c.e17-1 SLK_ENST00000335753.4_Splice_Site NM_014720.2 NP_055535.2 Q9H2G2 SLK_HUMAN STE20-like kinase apoptosis|nucleotide-excision repair cytoplasm|plasma membrane ATP binding|DNA binding|nuclease activity|protein serine/threonine kinase activity kidney(1)|lung(1)|ovary(2)|skin(2)|stomach(2) 8 Colorectal(252;0.178) Epithelial(162;5.81e-10)|all cancers(201;2.35e-08)|BRCA - Breast invasive adenocarcinoma(275;0.0165) TCTTATTTATAGTTTGCTGCA 0.333000 11 51 0 0 1 0 0 BRSK1 84446 broad.mit.edu 37 19 55816167 55816167 + Silent SNP G G T TCGA-BP-4994-01A-01D-1462-08 TCGA-BP-4994-11A-01D-1462-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba489617-cdc3-4e57-9400-1b3ef1d31b31 52c6f47a-69a1-4f55-9cda-c77e7c6e50c7 g.chr19:55816167G>T ENST00000309383.1 + 14 1873 c.1596G>T c.(1594-1596)ccG>ccT p.P532P BRSK1_ENST00000588584.1_3'UTR|BRSK1_ENST00000326848.7_Silent_p.P227P|BRSK1_ENST00000590333.1_Silent_p.P548P NM_032430.1 NP_115806.1 Q8TDC3 BRSK1_HUMAN BR serine/threonine kinase 1 532 Pro-rich. establishment of cell polarity|G2/M transition DNA damage checkpoint|neuron differentiation|response to UV cell junction|cytoplasm|nucleus magnesium ion binding|protein serine/threonine kinase activity NS(1)|breast(1)|central_nervous_system(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(12)|lung(15)|ovary(2)|prostate(2)|skin(6)|stomach(1) 48 Renal(1328;0.245) BRCA - Breast invasive adenocarcinoma(297;0.209) GBM - Glioblastoma multiforme(193;0.0474) CCGGGACCCCGGGGACAACAC 0.751000 2 7 1 1 1 1 0 FAM86EP 348926 broad.mit.edu 37 4 3949560 3949560 + RNA SNP G G A TCGA-BP-4994-01A-01D-1462-08 TCGA-BP-4994-11A-01D-1462-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba489617-cdc3-4e57-9400-1b3ef1d31b31 52c6f47a-69a1-4f55-9cda-c77e7c6e50c7 g.chr4:3949560G>A ENST00000281228.8 - 0 649 FAM86EP_ENST00000313946.8_RNA CCCTGGGGCCGTCTAAGTTGG 0.592000 3 58 0 0 1 0 0 CARD11 84433 broad.mit.edu 37 7 2977611 2977611 + Missense_Mutation SNP C C G TCGA-BP-4994-01A-01D-1462-08 TCGA-BP-4994-11A-01D-1462-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba489617-cdc3-4e57-9400-1b3ef1d31b31 52c6f47a-69a1-4f55-9cda-c77e7c6e50c7 g.chr7:2977611C>G ENST00000396946.4 - 8 1476 c.1073G>C c.(1072-1074)tGt>tCt p.C358S NM_032415.4 NP_115791.3 Q9BXL7 CAR11_HUMAN caspase recruitment domain family, member 11 358 positive regulation of cytokine production|positive regulation of NF-kappaB transcription factor activity|regulation of apoptosis|T cell costimulation|T cell receptor signaling pathway cytosol|membrane raft|plasma membrane CARD domain binding|guanylate kinase activity NS(1)|breast(3)|central_nervous_system(1)|cervix(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(62)|kidney(11)|large_intestine(13)|lung(31)|ovary(4)|prostate(5)|skin(7)|upper_aerodigestive_tract(2) 150 Ovarian(82;0.0115) OV - Ovarian serous cystadenocarcinoma(56;8.44e-14) GTACATTTCACAGTCCTTTCC 0.572000 Mis DLBCL 7 174 0 0 1 0 0 PCDHA9 9752 broad.mit.edu 37 5 140362135 140362135 + Silent SNP C C A TCGA-BP-4994-01A-01D-1462-08 TCGA-BP-4994-11A-01D-1462-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba489617-cdc3-4e57-9400-1b3ef1d31b31 52c6f47a-69a1-4f55-9cda-c77e7c6e50c7 g.chr5:140362135C>A ENST00000532602.1 + 3 3562 c.2529C>A c.(2527-2529)tcC>tcA p.S843S PCDHA1_ENST00000394633.3_Silent_p.S579S|PCDHA8_ENST00000531613.1_Silent_p.S843S|PCDHA13_ENST00000409494.1_Silent_p.S843S|PCDHA4_ENST00000512229.2_Silent_p.S840S|PCDHA5_ENST00000529859.1_Silent_p.S829S|PCDHA6_ENST00000527624.1_Silent_p.S579S|PCDHA6_ENST00000529310.1_Silent_p.S843S|PCDHA2_ENST00000526136.1_Silent_p.S841S|PCDHA10_ENST00000307360.5_Silent_p.S841S|PCDHA7_ENST00000525929.1_Silent_p.S830S|PCDHAC2_ENST00000289269.5_Silent_p.S900S|PCDHAC1_ENST00000253807.2_Silent_p.S856S|PCDHA3_ENST00000522353.2_Silent_p.S843S|PCDHA4_ENST00000530339.1_Silent_p.S840S|PCDHA13_ENST00000289272.2_Silent_p.S843S|PCDHA5_ENST00000529619.1_Silent_p.S829S|PCDHA10_ENST00000506939.2_Silent_p.S578S|PCDHA11_ENST00000398640.2_Silent_p.S842S|PCDHA1_ENST00000504120.2_Silent_p.S843S|PCDHA12_ENST00000398631.2_Silent_p.S834S NM_031857.1 NP_114063.1 breast(1)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(17)|lung(18)|ovary(4)|prostate(1)|skin(1)|stomach(1)|urinary_tract(1) 59 KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191) CAACAGTATCCAGTGCAACAC 0.498000 13 87 2.61681e-11 3.4164e-11 1 1 0 ATG7 10533 broad.mit.edu 37 3 11383734 11383734 + Missense_Mutation SNP A A G rs149127802 TCGA-BP-4994-01A-01D-1462-08 TCGA-BP-4994-11A-01D-1462-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba489617-cdc3-4e57-9400-1b3ef1d31b31 52c6f47a-69a1-4f55-9cda-c77e7c6e50c7 g.chr3:11383734A>G ENST00000354449.3 + 11 1131 c.1106A>G c.(1105-1107)aAt>aGt p.N369S ATG7_ENST00000354956.5_Missense_Mutation_p.N369S|ATG7_ENST00000446450.2_Missense_Mutation_p.N330S NM_006395.2 NP_006386.1 O95352 ATG7_HUMAN autophagy related 7 369 autophagy|cellular membrane fusion|positive regulation of protein modification process|protein lipidation|protein transport cytoplasm APG12 activating enzyme activity|protein homodimerization activity|ubiquitin activating enzyme activity central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(4)|lung(14)|prostate(1)|skin(2)|urinary_tract(1) 34 TTGGGTTGCAATGTAGCTAGG 0.468000 5 267 0 0 1 0 0 MOB2 81532 broad.mit.edu 37 11 1491713 1491713 + Nonsense_Mutation SNP C C A TCGA-BP-4994-01A-01D-1462-08 TCGA-BP-4994-11A-01D-1462-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba489617-cdc3-4e57-9400-1b3ef1d31b31 52c6f47a-69a1-4f55-9cda-c77e7c6e50c7 g.chr11:1491713C>A ENST00000329957.6 - 5 685 c.496G>T c.(496-498)Gaa>Taa p.E166* MOB2_ENST00000526462.1_5'UTR NM_001172223.1 NP_001165694.1 Q70IA6 MOB2_HUMAN MOB kinase activator 2 135 nucleus|perinuclear region of cytoplasm metal ion binding breast(1)|kidney(2)|lung(1) 4 CTGGGGAATTCTCTGCCTGGG 0.622000 3 44 0.00909568 0.0106874 1 1 0 GFM2 84340 broad.mit.edu 37 5 74021464 74021464 + Splice_Site SNP C C A TCGA-BP-4994-01A-01D-1462-08 TCGA-BP-4994-11A-01D-1462-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba489617-cdc3-4e57-9400-1b3ef1d31b31 52c6f47a-69a1-4f55-9cda-c77e7c6e50c7 g.chr5:74021464C>A ENST00000296805.3 - 19 2486 c.e19+1 GFM2_ENST00000515125.1_Intron|GFM2_ENST00000345239.2_Splice_Site|GFM2_ENST00000509430.1_Splice_Site NM_032380.3 NP_115756.2 Q969S9 RRF2M_HUMAN G elongation factor, mitochondrial 2 mitochondrial translation|ribosome disassembly mitochondrion GTP binding|GTPase activity breast(2)|endometrium(2)|large_intestine(4)|lung(5)|prostate(1) 14 all_lung(232;0.00101)|Lung NSC(167;0.00278)|Ovarian(174;0.0129)|Breast(144;0.231) OV - Ovarian serous cystadenocarcinoma(47;1.86e-56) TAGTTCTATACCTTTTGCACG 0.423000 3 72 0.004672 0.00563036 1 1 0 ATP6V1G1 9550 broad.mit.edu 37 9 117354865 117354865 + Missense_Mutation SNP A A C rs72752535 byFrequency TCGA-BP-4994-01A-01D-1462-08 TCGA-BP-4994-11A-01D-1462-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba489617-cdc3-4e57-9400-1b3ef1d31b31 52c6f47a-69a1-4f55-9cda-c77e7c6e50c7 g.chr9:117354865A>C ENST00000374050.3 + 2 209 c.116A>C c.(115-117)gAa>gCa p.E39A ATP6V1G1_ENST00000473413.1_3'UTR NM_004888.3 NP_004879.1 O75348 VATG1_HUMAN ATPase, H+ transporting, lysosomal 13kDa, V1 subunit G1 39 cellular iron ion homeostasis|insulin receptor signaling pathway|proton transport|transferrin transport cytosol|plasma membrane|vacuolar proton-transporting V-type ATPase complex ATPase binding|hydrolase activity, acting on acid anhydrides, catalyzing transmembrane movement of substances endometrium(1)|lung(2)|prostate(1)|skin(1) 5 GCCAAAGAAGAAGCTCAGGCT 0.463000 2 7 0 0 1 0 0 RUFY3 22902 broad.mit.edu 37 4 71634338 71634338 + Missense_Mutation SNP A A T TCGA-BP-4994-01A-01D-1462-08 TCGA-BP-4994-11A-01D-1462-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba489617-cdc3-4e57-9400-1b3ef1d31b31 52c6f47a-69a1-4f55-9cda-c77e7c6e50c7 g.chr4:71634338A>T ENST00000226328.4 + 5 1219 c.656A>T c.(655-657)gAt>gTt p.D219V RUFY3_ENST00000536664.1_Missense_Mutation_p.D203V|RUFY3_ENST00000417478.2_Missense_Mutation_p.D279V|RUFY3_ENST00000502653.1_Missense_Mutation_p.D166V|RUFY3_ENST00000381006.3_Missense_Mutation_p.D219V NM_014961.3 NP_055776.1 Q7L099 RUFY3_HUMAN RUN and FYVE domain containing 3 219 RUN. negative regulation of axonogenesis filopodium|growth cone endometrium(1)|kidney(3)|large_intestine(4)|lung(6)|prostate(1)|stomach(1) 16 all_hematologic(202;0.248) Lung(101;0.235) AATGTCATTGATGCCAATTTC 0.453000 15 232 0 0 1 0 0 ZNF766 90321 broad.mit.edu 37 19 52786650 52786650 + Missense_Mutation SNP C C G TCGA-BP-4994-01A-01D-1462-08 TCGA-BP-4994-11A-01D-1462-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba489617-cdc3-4e57-9400-1b3ef1d31b31 52c6f47a-69a1-4f55-9cda-c77e7c6e50c7 g.chr19:52786650C>G ENST00000439461.1 + 3 301 c.258C>G c.(256-258)atC>atG p.I86M ZNF766_ENST00000593612.1_Missense_Mutation_p.I101M|ZNF766_ENST00000600821.1_Missense_Mutation_p.I81M|ZNF766_ENST00000599581.1_Missense_Mutation_p.I86M|ZNF766_ENST00000359102.4_Missense_Mutation_p.I101M NM_001010851.2 NP_001010851.1 Q5HY98 ZN766_HUMAN zinc finger protein 766 86 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding breast(1)|endometrium(6)|kidney(1)|large_intestine(3)|lung(5)|prostate(1) 17 GBM - Glioblastoma multiforme(134;0.00236)|OV - Ovarian serous cystadenocarcinoma(262;0.00871) GGGAAGGTATCAAAGATATCA 0.418000 7 14 0 0 1 0 0 ATP7A 538 broad.mit.edu 37 X 77244942 77244942 + Missense_Mutation SNP A A G TCGA-BP-4994-01A-01D-1462-08 TCGA-BP-4994-11A-01D-1462-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba489617-cdc3-4e57-9400-1b3ef1d31b31 52c6f47a-69a1-4f55-9cda-c77e7c6e50c7 g.chrX:77244942A>G ENST00000341514.6 + 4 979 c.824A>G c.(823-825)aAt>aGt p.N275S ATP7A_ENST00000343533.5_Missense_Mutation_p.N275S|ATP7A_ENST00000350425.4_Intron NM_000052.5 NP_000043.3 Q04656 ATP7A_HUMAN ATPase, Cu++ transporting, alpha polypeptide 275 ATP biosynthetic process|blood vessel development|blood vessel remodeling|cartilage development|cellular copper ion homeostasis|cerebellar Purkinje cell differentiation|collagen fibril organization|copper ion import|detoxification of copper ion|dopamine metabolic process|elastic fiber assembly|elastin biosynthetic process|epinephrine metabolic process|hair follicle morphogenesis|locomotory behavior|lung alveolus development|negative regulation of metalloenzyme activity|neuroprotection|peptidyl-lysine modification|pigmentation|positive regulation of metalloenzyme activity|positive regulation of oxidoreductase activity|pyramidal neuron development|regulation of oxidative phosphorylation|removal of superoxide radicals|serotonin metabolic process|skin development|T-helper cell differentiation|tryptophan metabolic process basolateral plasma membrane|cytosol|endoplasmic reticulum|integral to membrane|late endosome|neuron projection|neuronal cell body|perinuclear region of cytoplasm|trans-Golgi network|trans-Golgi network transport vesicle ATP binding|copper-dependent protein binding|copper-exporting ATPase activity|superoxide dismutase copper chaperone activity breast(4)|central_nervous_system(3)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(26)|pancreas(1)|prostate(1)|urinary_tract(1) 53 TCATATACCAATGATTCAACA 0.388000 4 169 0 0 1 0 0 ADAMTS20 80070 broad.mit.edu 37 12 43771210 43771210 + Missense_Mutation SNP G G T TCGA-BP-4994-01A-01D-1462-08 TCGA-BP-4994-11A-01D-1462-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba489617-cdc3-4e57-9400-1b3ef1d31b31 52c6f47a-69a1-4f55-9cda-c77e7c6e50c7 g.chr12:43771210G>T ENST00000389420.3 - 32 4952 c.4953C>A c.(4951-4953)agC>agA p.S1651R NM_025003.3 NP_079279.3 P59510 ATS20_HUMAN ADAM metallopeptidase with thrombospondin type 1 motif, 20 1651 TSP type-1 14. proteinaceous extracellular matrix zinc ion binding breast(1)|central_nervous_system(6)|endometrium(3)|kidney(4)|large_intestine(11)|liver(1)|lung(43)|ovary(4)|pancreas(3)|prostate(5)|skin(12)|upper_aerodigestive_tract(1)|urinary_tract(1) 95 all_cancers(12;2.6e-05)|Lung SC(27;0.184) Lung NSC(34;0.0569)|all_lung(34;0.129) GBM - Glioblastoma multiforme(48;0.0473) AATGCAAACAGCTGTTAATGC 0.408000 3 43 1 1 1 1 0 MRPL9 65005 broad.mit.edu 37 1 151735551 151735551 + Silent SNP C C T TCGA-BP-4994-01A-01D-1462-08 TCGA-BP-4994-11A-01D-1462-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba489617-cdc3-4e57-9400-1b3ef1d31b31 52c6f47a-69a1-4f55-9cda-c77e7c6e50c7 g.chr1:151735551C>T ENST00000368830.3 - 2 309 c.225G>A c.(223-225)cgG>cgA p.R75R MRPL9_ENST00000368829.3_Silent_p.R75R|OAZ3_ENST00000321531.5_5'UTR|OAZ3_ENST00000315067.8_5'UTR|MRPL9_ENST00000467306.1_5'UTR NM_031420.2 NP_113608.1 Q9BYD2 RM09_HUMAN mitochondrial ribosomal protein L9 75 translation mitochondrial ribosome structural constituent of ribosome endometrium(2)|kidney(2)|large_intestine(2)|lung(4)|ovary(1)|upper_aerodigestive_tract(1) 12 Hepatocellular(266;0.0877)|all_hematologic(923;0.127)|Melanoma(130;0.14) LUSC - Lung squamous cell carcinoma(543;0.181) CGCGATGTCGCCGGTGCAGGC 0.657000 14 33 0 0 1 0 0 ZNF45 7596 broad.mit.edu 37 19 44417765 44417765 + Missense_Mutation SNP C C A TCGA-BP-4994-01A-01D-1462-08 TCGA-BP-4994-11A-01D-1462-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba489617-cdc3-4e57-9400-1b3ef1d31b31 52c6f47a-69a1-4f55-9cda-c77e7c6e50c7 g.chr19:44417765C>A ENST00000269973.5 - 10 2913 c.1823G>T c.(1822-1824)gGa>gTa p.G608V RP11-15A1.2_ENST00000586247.1_RNA|ZNF45_ENST00000589703.1_Missense_Mutation_p.G608V NM_003425.3 NP_003416.1 Q02386 ZNF45_HUMAN zinc finger protein 45 608 multicellular organismal development nucleoplasm DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding breast(1)|endometrium(2)|kidney(2)|large_intestine(2)|lung(4)|ovary(3)|skin(2)|upper_aerodigestive_tract(1) 17 TGGTCTCTCTCCTGTGTGGAC 0.488000 8 419 2.62144e-13 3.62376e-13 1 1 0 POLI 11201 broad.mit.edu 37 18 51820612 51820612 + Silent SNP A A G TCGA-BP-4994-01A-01D-1462-08 TCGA-BP-4994-11A-01D-1462-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba489617-cdc3-4e57-9400-1b3ef1d31b31 52c6f47a-69a1-4f55-9cda-c77e7c6e50c7 g.chr18:51820612A>G ENST00000579534.1 + 10 2141 c.1998A>G c.(1996-1998)caA>caG p.Q666Q POLI_ENST00000217800.5_Silent_p.Q540Q|POLI_ENST00000579434.1_Silent_p.Q563Q|POLI_ENST00000406285.3_Silent_p.Q587Q NM_007195.2 NP_009126.2 Q9UNA4 POLI_HUMAN polymerase (DNA directed) iota 666 DNA repair|DNA replication nucleoplasm damaged DNA binding|DNA-directed DNA polymerase activity|metal ion binding|protein binding breast(1)|endometrium(4)|kidney(2)|large_intestine(10)|lung(5)|ovary(3)|urinary_tract(1) 26 Colorectal(16;0.0234)|READ - Rectum adenocarcinoma(59;0.197) AGAGTGAGCAACTTTTCTCCA 0.403000 DNA polymerases (catalytic subunits) 23 40 0 0 1 0 0 BTG3 10950 broad.mit.edu 37 21 18977201 18977201 + Silent SNP C C A TCGA-BP-4994-01A-01D-1462-08 TCGA-BP-4994-11A-01D-1462-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba489617-cdc3-4e57-9400-1b3ef1d31b31 52c6f47a-69a1-4f55-9cda-c77e7c6e50c7 g.chr21:18977201C>A ENST00000339775.6 - 3 441 c.288G>T c.(286-288)gtG>gtT p.V96V BTG3_ENST00000348354.6_Silent_p.V96V NM_001130914.1 NP_001124386.1 Q14201 BTG3_HUMAN BTG family, member 3 96 negative regulation of cell proliferation|negative regulation of mitotic cell cycle cytoplasm endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(4) 8 Epithelial(23;0.000283)|all cancers(11;0.0012)|Lung(58;0.0191)|OV - Ovarian serous cystadenocarcinoma(11;0.0206)|COAD - Colon adenocarcinoma(22;0.0315)|LUSC - Lung squamous cell carcinoma(23;0.0703)|Colorectal(24;0.0971) CACATGGGTCCACCCAGAGAG 0.468000 3 55 1 1 1 1 0 LILRB2 10288 broad.mit.edu 37 19 54783387 54783387 + Missense_Mutation SNP C C A TCGA-BP-4994-01A-01D-1462-08 TCGA-BP-4994-11A-01D-1462-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba489617-cdc3-4e57-9400-1b3ef1d31b31 52c6f47a-69a1-4f55-9cda-c77e7c6e50c7 g.chr19:54783387C>A ENST00000391748.1 - 5 598 c.471G>T c.(469-471)aaG>aaT p.K157N LILRB2_ENST00000391746.1_Missense_Mutation_p.K157N|LILRB2_ENST00000434421.1_Missense_Mutation_p.K41N|LILRB2_ENST00000391749.4_Missense_Mutation_p.K157N|LILRB2_ENST00000314446.5_Missense_Mutation_p.K157N NM_001278403.1 NP_001265332.1 Q8N423 LIRB2_HUMAN leukocyte immunoglobulin-like receptor, subfamily B (with TM and ITIM domains), member 2 157 Ig-like C2-type 2. cell surface receptor linked signaling pathway|cell-cell signaling|cellular defense response|immune response|regulation of immune response integral to plasma membrane|membrane fraction receptor activity breast(2)|endometrium(3)|kidney(1)|large_intestine(4)|lung(30)|prostate(2)|skin(1)|upper_aerodigestive_tract(1) 44 Ovarian(34;0.19) GBM - Glioblastoma multiforme(193;0.105) CTTCTCCTTCCTTACACAGAA 0.622000 21 124 1.50039e-11 2.01481e-11 1 1 0 CACNA1B 774 broad.mit.edu 37 9 140809200 140809200 + Silent SNP C C A TCGA-BP-4994-01A-01D-1462-08 TCGA-BP-4994-11A-01D-1462-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba489617-cdc3-4e57-9400-1b3ef1d31b31 52c6f47a-69a1-4f55-9cda-c77e7c6e50c7 g.chr9:140809200C>A ENST00000371372.1 + 5 862 c.717C>A c.(715-717)atC>atA p.I239I CACNA1B_ENST00000371355.4_Silent_p.I239I|CACNA1B_ENST00000371363.1_Silent_p.I239I|CACNA1B_ENST00000277549.5_5'UTR|CACNA1B_ENST00000277551.2_Silent_p.I239I|CACNA1B_ENST00000371357.1_Silent_p.I239I NM_000718.3|NM_001243812.1 NP_000709.1|NP_001230741.1 Q00975 CAC1B_HUMAN calcium channel, voltage-dependent, N type, alpha 1B subunit 239 membrane depolarization|synaptic transmission voltage-gated calcium channel complex ATP binding|protein C-terminus binding|voltage-gated calcium channel activity p.I239I(1) NS(3)|autonomic_ganglia(1)|breast(7)|central_nervous_system(1)|endometrium(10)|kidney(2)|large_intestine(17)|lung(31)|ovary(1)|prostate(1)|skin(2)|stomach(2)|urinary_tract(2) 80 all_cancers(76;0.166) OV - Ovarian serous cystadenocarcinoma(145;1.16e-05)|Epithelial(140;0.000476) Amlodipine(DB00381)|Gabapentin(DB00996) TGTTTGCCATCATTGGCCTGG 0.567000 6 23 0.0215528 0.0247068 1 1 0 FBN3 84467 broad.mit.edu 37 19 8188389 8188389 + Missense_Mutation SNP G G T TCGA-BP-4994-01A-01D-1462-08 TCGA-BP-4994-11A-01D-1462-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba489617-cdc3-4e57-9400-1b3ef1d31b31 52c6f47a-69a1-4f55-9cda-c77e7c6e50c7 g.chr19:8188389G>T ENST00000600128.1 - 24 3455 c.3041C>A c.(3040-3042)gCg>gAg p.A1014E FBN3_ENST00000601739.1_Missense_Mutation_p.A1014E|FBN3_ENST00000270509.2_Missense_Mutation_p.A1014E Q75N90 FBN3_HUMAN fibrillin 3 1014 EGF-like 12; calcium-binding. proteinaceous extracellular matrix calcium ion binding|extracellular matrix structural constituent NS(1)|breast(9)|central_nervous_system(2)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(8)|large_intestine(15)|lung(53)|ovary(7)|pancreas(2)|prostate(3)|skin(10)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(2) 132 GAAGCCCCCCGCACAGGCGCA 0.612000 3 42 0.115264 0.123123 1 1 0 TBCD 6904 broad.mit.edu 37 17 80772758 80772758 + Silent SNP G G A TCGA-BP-4994-01A-01D-1462-08 TCGA-BP-4994-11A-01D-1462-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba489617-cdc3-4e57-9400-1b3ef1d31b31 52c6f47a-69a1-4f55-9cda-c77e7c6e50c7 g.chr17:80772758G>A ENST00000355528.4 + 13 1396 c.1266G>A c.(1264-1266)gcG>gcA p.A422A TBCD_ENST00000539345.2_Silent_p.A422A|TBCD_ENST00000397466.2_Silent_p.A36A NM_005993.4 NP_005984.3 Q9BTW9 TBCD_HUMAN tubulin folding cofactor D 422 'de novo' posttranslational protein folding|adherens junction assembly|negative regulation of cell-substrate adhesion|negative regulation of microtubule polymerization|post-chaperonin tubulin folding pathway|tight junction assembly adherens junction|cytoplasm|lateral plasma membrane|microtubule|tight junction beta-tubulin binding|chaperone binding|GTPase activator activity Breast(20;0.000523)|all_neural(118;0.0779) all_cancers(8;0.0266)|all_epithelial(8;0.0696) OV - Ovarian serous cystadenocarcinoma(97;0.0868)|BRCA - Breast invasive adenocarcinoma(99;0.18) GATGTCTGGCGCTGGCAGAGC 0.612000 10 23 0 0 1 0 0 FCRLB 127943 broad.mit.edu 37 1 161695855 161695855 + Silent SNP T T C TCGA-BP-4994-01A-01D-1462-08 TCGA-BP-4994-11A-01D-1462-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba489617-cdc3-4e57-9400-1b3ef1d31b31 52c6f47a-69a1-4f55-9cda-c77e7c6e50c7 g.chr1:161695855T>C ENST00000367948.2 + 6 767 c.552T>C c.(550-552)gcT>gcC p.A184A FCRLB_ENST00000495397.1_3'UTR|FCRLB_ENST00000392158.1_Silent_p.A184A|FCRLB_ENST00000336830.5_Silent_p.A184A|FCRLB_ENST00000367944.3_Silent_p.A177A|FCRLB_ENST00000367945.1_Silent_p.A177A|FCRLB_ENST00000367946.3_Silent_p.A184A Q6BAA4 FCRLB_HUMAN Fc receptor-like B 184 Ig-like C2-type 2. endoplasmic reticulum central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(7)|skin(1) 17 all_hematologic(112;0.0359) BRCA - Breast invasive adenocarcinoma(70;0.00634) TGTTCTCCGCTAAGGTGGCTG 0.622000 OREG0013944 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 5 47 0 0 1 0 0 MST1R 4486 broad.mit.edu 37 3 49924839 49924839 + Silent SNP C C G TCGA-BP-4994-01A-01D-1462-08 TCGA-BP-4994-11A-01D-1462-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba489617-cdc3-4e57-9400-1b3ef1d31b31 52c6f47a-69a1-4f55-9cda-c77e7c6e50c7 g.chr3:49924839C>G ENST00000296474.3 - 20 4131 c.4104G>C c.(4102-4104)tcG>tcC p.S1368S MST1R_ENST00000344206.4_Silent_p.S1319S NM_002447.2 NP_002438.2 Q04912 RON_HUMAN macrophage stimulating 1 receptor (c-met-related tyrosine kinase) 1368 cellular component movement|defense response|multicellular organismal development|positive regulation of cell proliferation|single fertilization|transmembrane receptor protein tyrosine kinase signaling pathway integral to plasma membrane ATP binding|macrophage colony-stimulating factor receptor activity|protein binding cervix(1)|endometrium(5)|large_intestine(3)|lung(17)|ovary(5)|prostate(2)|skin(1)|urinary_tract(3) 37 BRCA - Breast invasive adenocarcinoma(193;4.65e-05)|KIRC - Kidney renal clear cell carcinoma(197;0.00553)|Kidney(197;0.00625) TCATCTCATGCGAGGTGCTGG 0.597000 10 181 0 0 1 0 0 PLCZ1 89869 broad.mit.edu 37 12 18858244 18858244 + Silent SNP A A T TCGA-BP-4994-01A-01D-1462-08 TCGA-BP-4994-11A-01D-1462-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba489617-cdc3-4e57-9400-1b3ef1d31b31 52c6f47a-69a1-4f55-9cda-c77e7c6e50c7 g.chr12:18858244A>T ENST00000266505.7 - 7 983 c.720T>A c.(718-720)tcT>tcA p.S240S PLCZ1_ENST00000538330.1_Intron|PLCZ1_ENST00000435379.1_Silent_p.S45S|PLCZ1_ENST00000542762.1_5'UTR|PLCZ1_ENST00000447925.2_Silent_p.S238S|PLCZ1_ENST00000541695.1_Silent_p.S103S|PLCZ1_ENST00000539875.1_Silent_p.S47S Q86YW0 PLCZ1_HUMAN phospholipase C, zeta 1 240 PI-PLC X-box. intracellular signal transduction|lipid catabolic process|multicellular organismal development nucleus|perinuclear region of cytoplasm calcium ion binding|phosphatidylinositol phospholipase C activity|signal transducer activity NS(1)|breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(13)|ovary(1)|skin(4)|upper_aerodigestive_tract(1) 31 Acute lymphoblastic leukemia(4;0.000455)|all_hematologic(4;0.0241) CTGGGTAGTCAGATGTCTAAA 0.343000 18 245 0 0 1 0 0 NIN 51199 broad.mit.edu 37 14 51237587 51237587 + Silent SNP C C A TCGA-BP-4994-01A-01D-1462-08 TCGA-BP-4994-11A-01D-1462-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba489617-cdc3-4e57-9400-1b3ef1d31b31 52c6f47a-69a1-4f55-9cda-c77e7c6e50c7 g.chr14:51237587C>A ENST00000245441.5 - 11 1432 c.1242G>T c.(1240-1242)cgG>cgT p.R414R NIN_ENST00000324330.9_Silent_p.R414R|NIN_ENST00000382043.4_Silent_p.R414R|NIN_ENST00000389868.3_Silent_p.R414R|NIN_ENST00000382041.3_Silent_p.R414R|NIN_ENST00000453196.1_Silent_p.R414R|NIN_ENST00000530997.2_Silent_p.R414R NM_020921.3 NP_065972.3 Q8N4C6 NIN_HUMAN ninein (GSK3B interacting protein) 414 centrosome localization centrosome|microtubule calcium ion binding|GTP binding|protein binding breast(4)|central_nervous_system(1)|cervix(2)|endometrium(10)|kidney(5)|large_intestine(13)|lung(16)|ovary(1)|pancreas(1)|prostate(5)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(5) 71 all_epithelial(31;0.00244)|Breast(41;0.127) TGTACTCATTCCGCCGCTCTA 0.592000 T PDGFRB MPD 8 39 1.06961e-07 1.34334e-07 1 1 0 ABCA1 19 broad.mit.edu 37 9 107581907 107581907 + Silent SNP G G A TCGA-BP-4994-01A-01D-1462-08 TCGA-BP-4994-11A-01D-1462-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba489617-cdc3-4e57-9400-1b3ef1d31b31 52c6f47a-69a1-4f55-9cda-c77e7c6e50c7 g.chr9:107581907G>A ENST00000374736.3 - 22 3595 c.3201C>T c.(3199-3201)tcC>tcT p.S1067S NM_005502.3 NP_005493.2 O95477 ABCA1_HUMAN ATP-binding cassette, sub-family A (ABC1), member 1 1067 ABC transporter 1. Cdc42 protein signal transduction|cellular lipid metabolic process|cholesterol efflux|cholesterol homeostasis|cholesterol metabolic process|endosome transport|G-protein coupled receptor protein signaling pathway|high-density lipoprotein particle assembly|interleukin-1 beta secretion|intracellular cholesterol transport|lysosome organization|negative regulation of cholesterol storage|negative regulation of macrophage derived foam cell differentiation|phospholipid efflux|phospholipid homeostasis|platelet dense granule organization|positive regulation of cAMP biosynthetic process|reverse cholesterol transport integral to plasma membrane|membrane fraction|membrane raft|phagocytic vesicle anion transmembrane transporter activity|apolipoprotein A-I receptor activity|ATP binding|ATPase activity|cholesterol transporter activity|phospholipid transporter activity|small GTPase binding|syntaxin-13 binding NS(1)|autonomic_ganglia(1)|breast(5)|central_nervous_system(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(31)|liver(1)|lung(40)|ovary(5)|pancreas(2)|prostate(4)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 115 OV - Ovarian serous cystadenocarcinoma(323;0.023) Adenosine triphosphate(DB00171)|Glibenclamide(DB01016) TTCCCCTGCGGGAGTAAGGGT 0.512000 5 124 0 0 1 0 0 TSHZ1 10194 broad.mit.edu 37 18 72999255 72999255 + Silent SNP G G A rs145239521 TCGA-BP-4994-01A-01D-1462-08 TCGA-BP-4994-11A-01D-1462-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba489617-cdc3-4e57-9400-1b3ef1d31b31 52c6f47a-69a1-4f55-9cda-c77e7c6e50c7 g.chr18:72999255G>A ENST00000322038.5 + 2 2342 c.1758G>A c.(1756-1758)ccG>ccA p.P586P TSHZ1_ENST00000580243.1_Silent_p.P631P NM_005786.5 NP_005777.3 Q6ZSZ6 TSH1_HUMAN teashirt zinc finger homeobox 1 631 nucleus sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding NS(1)|breast(2)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(11)|liver(1)|lung(14)|ovary(1)|skin(6)|upper_aerodigestive_tract(2) 42 Esophageal squamous(42;0.129)|Prostate(75;0.142)|Melanoma(33;0.211) Colorectal(1;0.000501)|READ - Rectum adenocarcinoma(2;0.00226)|BRCA - Breast invasive adenocarcinoma(31;0.246) CGCCCCCACCGCACAAGAGCA 0.632000 3 49 0 0 1 0 0 CYP1B1 1545 broad.mit.edu 37 2 38297920 38297920 + Missense_Mutation SNP A A G TCGA-BP-4994-01A-01D-1462-08 TCGA-BP-4994-11A-01D-1462-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba489617-cdc3-4e57-9400-1b3ef1d31b31 52c6f47a-69a1-4f55-9cda-c77e7c6e50c7 g.chr2:38297920A>G ENST00000260630.3 - 3 1978 c.1577T>C c.(1576-1578)aTg>aCg p.M526T CYP1B1_ENST00000407341.1_Missense_Mutation_p.M526T|CYP1B1_ENST00000494864.1_5'UTR NM_000104.3 NP_000095.2 Q16678 CP1B1_HUMAN cytochrome P450, family 1, subfamily B, polypeptide 1 526 visual perception|xenobiotic metabolic process endoplasmic reticulum membrane|microsome aromatase activity|electron carrier activity|heme binding|oxygen binding|protein binding breast(2)|central_nervous_system(1)|endometrium(2)|large_intestine(3)|lung(4)|ovary(1) 13 all_hematologic(82;0.21) Estrone(DB00655) AAGGAGCTCCATGGACTCTCT 0.403000 7 119 0 0 1 0 0 ATP1A1 476 broad.mit.edu 37 1 116939279 116939281 + In_Frame_Del DEL CAT CAT - TCGA-BP-4994-01A-01D-1462-08 TCGA-BP-4994-11A-01D-1462-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba489617-cdc3-4e57-9400-1b3ef1d31b31 52c6f47a-69a1-4f55-9cda-c77e7c6e50c7 g.chr1:116939279_116939281delCAT ENST00000537345.1 + 14 2259_2261 c.1896_1898delCAT c.(1894-1899)ggc>gg p.GI632del ATP1A1_ENST00000295598.5_In_Frame_Del_p.GI632del|ATP1A1_ENST00000369496.4_In_Frame_Del_p.GI601del NM_001160233.1 NP_001153705.1 P05023 AT1A1_HUMAN ATPase, Na+/K+ transporting, alpha 1 polypeptide 632 ATP biosynthetic process melanosome|sodium:potassium-exchanging ATPase complex ATP binding|metal ion binding|protein binding|sodium:potassium-exchanging ATPase activity NS(2)|breast(2)|cervix(3)|endometrium(2)|kidney(5)|large_intestine(9)|lung(17)|ovary(1)|prostate(1)|skin(3)|stomach(1)|urinary_tract(1) 47 Lung SC(450;0.225) all_cancers(81;1.28e-06)|all_epithelial(167;3.48e-07)|all_lung(203;2.64e-06)|Lung NSC(69;1.98e-05) Lung(183;0.0164)|LUSC - Lung squamous cell carcinoma(189;0.0548)|Colorectal(144;0.0825)|COAD - Colon adenocarcinoma(174;0.127)|all cancers(265;0.24) Acetyldigitoxin(DB00511)|Almitrine(DB01430)|Aluminium(DB01370)|Bepridil(DB01244)|Bretylium(DB01158)|Captopril(DB01197)|Deslanoside(DB01078)|Diazoxide(DB01119)|Digitoxin(DB01396)|Digoxin(DB00390)|Esomeprazole(DB00736)|Ethacrynic acid(DB00903)|Furosemide(DB00695)|Hydroflumethiazide(DB00774)|Methyclothiazide(DB00232)|Ouabain(DB01092)|Pantoprazole(DB00213)|Trichlormethiazide(DB01021) AAGGTGTGGGCATCATCTCAGAA 0.493 15 81 --- --- --- --- DTX3L 151636 broad.mit.edu 37 3 122289368 122289371 + Frame_Shift_Del DEL AAGG AAGG - rs9868175 byFrequency TCGA-BP-4994-01A-01D-1462-08 TCGA-BP-4994-11A-01D-1462-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba489617-cdc3-4e57-9400-1b3ef1d31b31 52c6f47a-69a1-4f55-9cda-c77e7c6e50c7 g.chr3:122289368_122289371delAAGG ENST00000296161.4 + 4 2191_2194 c.2002_2005delAAGG c.(2002-2007)aafs p.KE668fs DTX3L_ENST00000383661.3_Frame_Shift_Del_p.KE156fs NM_138287.3 NP_612144.1 Q8TDB6 DTX3L_HUMAN deltex 3-like (Drosophila) 668 K -> M (in dbSNP:rs9868175). histone monoubiquitination|response to DNA damage stimulus cytoplasm|nucleus histone binding|ubiquitin-protein ligase activity|zinc ion binding breast(2)|endometrium(2)|kidney(1)|large_intestine(3)|lung(12)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1) 24 GBM - Glioblastoma multiforme(114;0.0459) GCCTGATAATAAGGAAGGAAGGAA 0.426 10 148 --- --- --- --- RP11-703G6.1 0 broad.mit.edu 37 4 104890339 104890340 + RNA INS - - TC rs11352847 TCGA-BP-4994-01A-01D-1462-08 TCGA-BP-4994-11A-01D-1462-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba489617-cdc3-4e57-9400-1b3ef1d31b31 52c6f47a-69a1-4f55-9cda-c77e7c6e50c7 g.chr4:104890339_104890340insTC ENST00000510505.1 + 0 63 ccttcctttcttttctttcttt 0.356 4 2 --- --- --- --- DOPEY1 23033 broad.mit.edu 37 6 83845475 83845475 + Frame_Shift_Del DEL A A - TCGA-BP-4994-01A-01D-1462-08 TCGA-BP-4994-11A-01D-1462-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba489617-cdc3-4e57-9400-1b3ef1d31b31 52c6f47a-69a1-4f55-9cda-c77e7c6e50c7 g.chr6:83845475delA ENST00000349129.2 + 20 3268 c.3008delA c.(3007-3009)ctfs p.H1003fs DOPEY1_ENST00000369739.3_Frame_Shift_Del_p.H994fs|DOPEY1_ENST00000237163.5_Frame_Shift_Del_p.H984fs NM_015018.3 NP_055833.2 Q5JWR5 DOP1_HUMAN dopey family member 1 1003 protein transport breast(4)|central_nervous_system(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(15)|lung(16)|ovary(5)|pancreas(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(2) 67 all_cancers(76;2.29e-06)|Acute lymphoblastic leukemia(125;3.41e-06)|all_hematologic(105;0.000865)|all_epithelial(107;0.00203) BRCA - Breast invasive adenocarcinoma(397;0.053) CTCCTGCTTCATCCAAAAACT 0.453 47 142 --- --- --- --- RP11-420N3.2 0 broad.mit.edu 37 16 5792292 5792299 + RNA DEL CCTGCCTC CCTGCCTC - TCGA-BP-4994-01A-01D-1462-08 TCGA-BP-4994-11A-01D-1462-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba489617-cdc3-4e57-9400-1b3ef1d31b31 52c6f47a-69a1-4f55-9cda-c77e7c6e50c7 g.chr16:5792292_5792299delCCTGCCTC ENST00000569895.1 + 0 403 tccctcccttcctgcctccctcccttcc 0.558 2 4 --- --- --- --- PLCG2 5336 broad.mit.edu 37 16 81944242 81944242 + Frame_Shift_Del DEL C C - TCGA-BP-4994-01A-01D-1462-08 TCGA-BP-4994-11A-01D-1462-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba489617-cdc3-4e57-9400-1b3ef1d31b31 52c6f47a-69a1-4f55-9cda-c77e7c6e50c7 g.chr16:81944242delC ENST00000359376.3 + 18 2065 c.1851delC c.(1849-1851)tafs p.Y617fs NM_002661.3 NP_002652.2 P16885 PLCG2_HUMAN phospholipase C, gamma 2 (phosphatidylinositol-specific) 617 SH2 1. intracellular signal transduction|phospholipid catabolic process|platelet activation plasma membrane phosphatidylinositol phospholipase C activity|protein binding|signal transducer activity NS(1)|breast(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(18)|lung(21)|ovary(1)|prostate(2)|skin(2)|urinary_tract(1) 58 TCCAGCACTACCGCGAGACGC 0.627 21 397 --- --- --- --- CHD6 84181 broad.mit.edu 37 20 40080534 40080535 + Frame_Shift_Del DEL TT TT - TCGA-BP-4994-01A-01D-1462-08 TCGA-BP-4994-11A-01D-1462-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba489617-cdc3-4e57-9400-1b3ef1d31b31 52c6f47a-69a1-4f55-9cda-c77e7c6e50c7 g.chr20:40080534_40080535delTT ENST00000373233.3 - 22 3631_3632 c.3454_3455delAA c.(3454-3456)gfs p.K1152fs CHD6_ENST00000309279.7_Frame_Shift_Del_p.K635fs NM_032221.3 NP_115597.3 Q8TD26 CHD6_HUMAN chromodomain helicase DNA binding protein 6 1152 chromatin remodeling|nervous system development|regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus ATP binding|ATP-dependent helicase activity|chromatin binding|DNA binding breast(8)|central_nervous_system(2)|cervix(2)|endometrium(5)|kidney(4)|large_intestine(24)|lung(53)|ovary(8)|prostate(5)|skin(8)|stomach(1)|urinary_tract(9) 129 Myeloproliferative disorder(115;0.00425) AATGAAACTCTTGATCTTCTCG 0.520 53 247 --- --- --- ---