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 PI4KB 5298 broad.mit.edu 37 1 151278805 151278805 + Missense_Mutation SNP C C A TCGA-EJ-8469-01A-11D-2395-08 TCGA-EJ-8469-10A-01D-2395-08 Untested Somatic Phase_I WXS none Illumina GAIIx a4f80437-b585-4146-b6e0-9e8e44fef3da 77d692db-a5c0-4d14-926a-d2f81943505a g.chr1:151278805C>A ENST00000368875.2 - 6 1833 c.1253G>T c.(1252-1254)tGt>tTt p.C418F PI4KB_ENST00000529142.1_Missense_Mutation_p.C74F|PI4KB_ENST00000271657.5_Missense_Mutation_p.C418F|PI4KB_ENST00000368874.4_Missense_Mutation_p.C391F|PI4KB_ENST00000368872.1_Missense_Mutation_p.C391F|PI4KB_ENST00000368873.1_Missense_Mutation_p.C406F NM_002651.2 NP_002642.1 Q9UBF8 PI4KB_HUMAN phosphatidylinositol 4-kinase, catalytic, beta 406 phosphatidylinositol biosynthetic process|phosphatidylinositol-mediated signaling|receptor-mediated endocytosis endosome|Golgi apparatus|mitochondrial outer membrane|perinuclear region of cytoplasm|rough endoplasmic reticulum membrane 1-phosphatidylinositol 4-kinase activity|ATP binding|protein binding breast(3)|endometrium(5)|kidney(3)|large_intestine(2)|lung(7)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(1) 27 Lung SC(34;0.00471)|Ovarian(49;0.0147)|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) AAAGTTTTCACATTCAAGGAC 0.493 4 93 --- --- --- --- SOX13 9580 broad.mit.edu 37 1 204082093 204082093 + Missense_Mutation SNP G G A TCGA-EJ-8469-01A-11D-2395-08 TCGA-EJ-8469-10A-01D-2395-08 Untested Somatic Phase_I WXS none Illumina GAIIx a4f80437-b585-4146-b6e0-9e8e44fef3da 77d692db-a5c0-4d14-926a-d2f81943505a g.chr1:204082093G>A ENST00000367204.1 + 2 159 c.50G>A c.(49-51)gGc>gAc p.G17D SOX13_ENST00000367203.4_3'UTR NM_005686.2 NP_005677.2 Q9UN79 SOX13_HUMAN SRY (sex determining region Y)-box 13 17 anatomical structure morphogenesis nucleus sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(3)|lung(2)|ovary(2)|prostate(2) 13 all_cancers(21;0.0754)|Breast(84;0.116)|all_epithelial(62;0.189) KIRC - Kidney renal clear cell carcinoma(13;0.0584)|Kidney(21;0.0934)|BRCA - Breast invasive adenocarcinoma(75;0.109) GATGGCGTTGGCACCATGGTG 0.612 4 88 --- --- --- --- ADCY3 109 broad.mit.edu 37 2 25046161 25046161 + Missense_Mutation SNP C C T TCGA-EJ-8469-01A-11D-2395-08 TCGA-EJ-8469-10A-01D-2395-08 Untested Somatic Phase_I WXS none Illumina GAIIx a4f80437-b585-4146-b6e0-9e8e44fef3da 77d692db-a5c0-4d14-926a-d2f81943505a g.chr2:25046161C>T ENST00000260600.5 - 17 3651 c.2800G>A c.(2800-2802)Gac>Aac p.D934N ADCY3_ENST00000405392.1_Missense_Mutation_p.D521N NM_004036.3 NP_004027.2 O60266 ADCY3_HUMAN adenylate cyclase 3 934 activation of adenylate cyclase activity by G-protein signaling pathway|activation of phospholipase C activity|activation of protein kinase A activity|cellular response to glucagon stimulus|energy reserve metabolic process|inhibition of adenylate cyclase activity by G-protein signaling pathway|nerve growth factor receptor signaling pathway|sensory perception of smell|synaptic transmission|transmembrane transport|water transport cytoplasm|integral to plasma membrane ATP binding|calmodulin binding|metal ion binding NS(1)|breast(5)|endometrium(7)|kidney(1)|large_intestine(7)|lung(14)|ovary(3)|prostate(4)|skin(2) 44 Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.203) GTGTAGAAGTCAGCAAAGTTG 0.473 4 103 --- --- --- --- EIF2AK3 9451 broad.mit.edu 37 2 88913315 88913315 + Missense_Mutation SNP T T C TCGA-EJ-8469-01A-11D-2395-08 TCGA-EJ-8469-10A-01D-2395-08 Untested Somatic Phase_I WXS none Illumina GAIIx a4f80437-b585-4146-b6e0-9e8e44fef3da 77d692db-a5c0-4d14-926a-d2f81943505a g.chr2:88913315T>C ENST00000303236.3 - 2 666 c.365A>G c.(364-366)aAt>aGt p.N122S EIF2AK3_ENST00000419748.1_5'UTR NM_004836.5 NP_004827.4 Q9NZJ5 E2AK3_HUMAN eukaryotic translation initiation factor 2-alpha kinase 3 122 activation of caspase activity|bone mineralization|calcium-mediated signaling|chondrocyte development|endocrine pancreas development|endoplasmic reticulum organization|endoplasmic reticulum unfolded protein response|ER overload response|insulin secretion|insulin-like growth factor receptor signaling pathway|negative regulation of myelination|negative regulation of translational initiation in response to stress|protein autophosphorylation|protein homooligomerization endoplasmic reticulum membrane|integral to membrane ATP binding|eukaryotic translation initiation factor 2alpha kinase activity|identical protein binding ovary(3) 3 TTTACCATGATTTTCAGGATC 0.358 94 128 --- --- --- --- ZAP70 7535 broad.mit.edu 37 2 98351892 98351892 + Missense_Mutation SNP C C T TCGA-EJ-8469-01A-11D-2395-08 TCGA-EJ-8469-10A-01D-2395-08 Untested Somatic Phase_I WXS none Illumina GAIIx a4f80437-b585-4146-b6e0-9e8e44fef3da 77d692db-a5c0-4d14-926a-d2f81943505a g.chr2:98351892C>T ENST00000264972.5 + 10 1477 c.1262C>T c.(1261-1263)cCg>cTg p.P421L ZAP70_ENST00000442208.1_Missense_Mutation_p.P295L|ZAP70_ENST00000451498.2_Missense_Mutation_p.P114L|ZAP70_ENST00000463643.1_3'UTR NM_001079.3 NP_001070.2 P43403 ZAP70_HUMAN zeta-chain (TCR) associated protein kinase 70kDa 421 Protein kinase. immune response|intracellular protein kinase cascade|positive thymic T cell selection|T cell receptor signaling pathway cytosol|T cell receptor complex ATP binding|non-membrane spanning protein tyrosine kinase activity p.P421Q(1) breast(1)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(4)|lung(15)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2) 29 GGGGGCGGGCCGCTGCACAAG 0.682 5 206 --- --- --- --- TTN 7273 broad.mit.edu 37 2 179592350 179592350 + Missense_Mutation SNP A A G TCGA-EJ-8469-01A-11D-2395-08 TCGA-EJ-8469-10A-01D-2395-08 Untested Somatic Phase_I WXS none Illumina GAIIx a4f80437-b585-4146-b6e0-9e8e44fef3da 77d692db-a5c0-4d14-926a-d2f81943505a g.chr2:179592350A>G ENST00000589042.1 - 68 20179 c.19955T>C c.(19954-19956)gTt>gCt p.V6652A TTN_ENST00000342992.6_Missense_Mutation_p.V5408A|TTN_ENST00000359218.5_Intron|TTN_ENST00000342175.6_Intron|TTN_ENST00000460472.2_Intron|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000591111.1_Missense_Mutation_p.V6335A NM_001267550.1 NP_001254479.1 Q8WZ42 TITIN_HUMAN titin 6335 Ig-like 48. ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26) 1448 OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134) GTCGCTACCAACATCATTGGT 0.408 180 296 --- --- --- --- AGFG1 3267 broad.mit.edu 37 2 228388627 228388627 + Missense_Mutation SNP G G A TCGA-EJ-8469-01A-11D-2395-08 TCGA-EJ-8469-10A-01D-2395-08 Untested Somatic Phase_I WXS none Illumina GAIIx a4f80437-b585-4146-b6e0-9e8e44fef3da 77d692db-a5c0-4d14-926a-d2f81943505a g.chr2:228388627G>A ENST00000310078.8 + 4 786 c.526G>A c.(526-528)Ggc>Agc p.G176S AGFG1_ENST00000409315.1_Missense_Mutation_p.G176S|AGFG1_ENST00000409979.2_Missense_Mutation_p.G176S|AGFG1_ENST00000373671.3_Missense_Mutation_p.G176S|AGFG1_ENST00000409171.1_Missense_Mutation_p.G176S|AGFG1_ENST00000486932.1_3'UTR NM_001135188.1|NM_001135189.1|NM_004504.4 NP_001128660.1|NP_001128661.1|NP_004495.2 P52594 AGFG1_HUMAN ArfGAP with FG repeats 1 cell differentiation|mRNA export from nucleus|multicellular organismal development|regulation of ARF GTPase activity|spermatogenesis cytoplasmic membrane-bounded vesicle|Golgi apparatus|nuclear pore ARF GTPase activator activity|DNA binding|protein binding|RNA binding|zinc ion binding central_nervous_system(1)|endometrium(1)|large_intestine(5)|liver(2)|lung(2)|ovary(1)|prostate(1)|skin(4)|stomach(1) 18 CTTAAATAAGGGCACACCTAG 0.433 23 173 --- --- --- --- PTPRG 5793 broad.mit.edu 37 3 62142813 62142813 + Missense_Mutation SNP A A G TCGA-EJ-8469-01A-11D-2395-08 TCGA-EJ-8469-10A-01D-2395-08 Untested Somatic Phase_I WXS none Illumina GAIIx a4f80437-b585-4146-b6e0-9e8e44fef3da 77d692db-a5c0-4d14-926a-d2f81943505a g.chr3:62142813A>G ENST00000474889.1 + 7 1132 c.755A>G c.(754-756)tAc>tGc p.Y252C PTPRG_ENST00000295874.10_Missense_Mutation_p.Y252C NM_002841.3 NP_002832.3 P23470 PTPRG_HUMAN protein tyrosine phosphatase, receptor type, G 252 Alpha-carbonic anhydrase. transmembrane receptor protein tyrosine kinase signaling pathway integral to plasma membrane identical protein binding|transmembrane receptor protein tyrosine phosphatase activity NS(1)|breast(4)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(12)|liver(2)|lung(15)|ovary(7)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2) 62 BRCA - Breast invasive adenocarcinoma(55;0.000376)|KIRC - Kidney renal clear cell carcinoma(10;0.0499)|Kidney(10;0.065) TATTATCGGTACACAGGTTCC 0.512 7 162 --- --- --- --- PIK3CA 5290 broad.mit.edu 37 3 178936091 178936091 + Missense_Mutation SNP G G A rs104886003 TCGA-EJ-8469-01A-11D-2395-08 TCGA-EJ-8469-10A-01D-2395-08 Untested Somatic Phase_I WXS none Illumina GAIIx a4f80437-b585-4146-b6e0-9e8e44fef3da 77d692db-a5c0-4d14-926a-d2f81943505a g.chr3:178936091G>A ENST00000263967.3 + 10 1790 c.1633G>A c.(1633-1635)Gag>Aag p.E545K NM_006218.2 NP_006209.2 P42336 PK3CA_HUMAN phosphatidylinositol-4,5-bisphosphate 3-kinase, catalytic subunit alpha 545 PI3K helical. E -> A (in cancer).|E -> G (in KERSEB).|E -> K (in KERSEB; shows an increase in lipid kinase activity; oncogenic in vivo; occurs in the interface between the PI3K helical domain and the nSH2 (N-terminal SH2) region of the p85 regulatory subunit and may reduce the inhibitory effect of p85; requires interaction with RAS to induce cellular transformation; enhances invadopodia-mediated extracellular matrix degradation and invasion in breast cancer cells). epidermal growth factor receptor signaling pathway|fibroblast growth factor receptor signaling pathway|insulin receptor signaling pathway|leukocyte migration|nerve growth factor receptor signaling pathway|phosphatidylinositol-mediated signaling|platelet activation|T cell costimulation|T cell receptor signaling pathway 1-phosphatidylinositol-3-kinase activity|ATP binding|phosphatidylinositol-4,5-bisphosphate 3-kinase activity p.E545K(881)|p.E545Q(18) NS(16)|autonomic_ganglia(4)|biliary_tract(22)|bone(1)|breast(2150)|central_nervous_system(110)|cervix(33)|endometrium(473)|eye(1)|haematopoietic_and_lymphoid_tissue(35)|kidney(14)|large_intestine(1202)|liver(42)|lung(202)|meninges(1)|oesophagus(28)|ovary(235)|pancreas(17)|penis(8)|pituitary(12)|prostate(10)|skin(155)|small_intestine(1)|soft_tissue(18)|stomach(121)|thyroid(80)|upper_aerodigestive_tract(70)|urinary_tract(208) 5269 all_cancers(143;1.19e-17)|Ovarian(172;0.00769)|Breast(254;0.155) OV - Ovarian serous cystadenocarcinoma(80;9.59e-28)|GBM - Glioblastoma multiforme(14;0.003)|BRCA - Breast invasive adenocarcinoma(182;0.0282) TGAAATCACTGAGCAGGAGAA 0.353 E545K(BC3C_URINARY_TRACT)|E545K(BFTC909_KIDNEY)|E545K(DLD1_LARGE_INTESTINE)|E545K(ESS1_ENDOMETRIUM)|E545K(HCC202_BREAST)|E545K(HCT15_LARGE_INTESTINE)|E545K(HSC4_UPPER_AERODIGESTIVE_TRACT)|E545K(HT1197_URINARY_TRACT)|E545K(HUH28_BILIARY_TRACT)|E545K(KYSE510_OESOPHAGUS)|E545K(L363_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|E545K(MCF7_BREAST)|E545K(MDAMB361_BREAST)|E545K(MKN1_STOMACH)|E545K(NCIH460_LUNG)|E545K(NCIH508_LARGE_INTESTINE)|E545K(NCIH596_LUNG)|E545K(RERFLCSQ1_LUNG)|E545K(TCCSUP_URINARY_TRACT)|E545K(TE5_OESOPHAGUS) 57 Mis """colorectal, gastric, gliobastoma, breast""" HNSCC(19;0.045)|TSP Lung(28;0.18) 4 116 --- --- --- --- ABCC5 10057 broad.mit.edu 37 3 183667864 183667864 + Silent SNP G G A TCGA-EJ-8469-01A-11D-2395-08 TCGA-EJ-8469-10A-01D-2395-08 Untested Somatic Phase_I WXS none Illumina GAIIx a4f80437-b585-4146-b6e0-9e8e44fef3da 77d692db-a5c0-4d14-926a-d2f81943505a g.chr3:183667864G>A ENST00000334444.6 - 21 3234 c.2994C>T c.(2992-2994)atC>atT p.I998I ABCC5_ENST00000265586.6_Silent_p.I998I NM_005688.2 NP_005679.2 O15440 MRP5_HUMAN ATP-binding cassette, sub-family C (CFTR/MRP), member 5 998 ABC transmembrane type-1 2. integral to plasma membrane|membrane fraction ATP binding|ATPase activity, coupled to transmembrane movement of substances|organic anion transmembrane transporter activity NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(9)|lung(32)|ovary(3)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 62 all_cancers(143;1.85e-10)|Ovarian(172;0.0303) Epithelial(37;1.74e-35)|OV - Ovarian serous cystadenocarcinoma(80;6.48e-22) AGAACACCAGGATAACGTTCT 0.507 22 51 --- --- --- --- SV2C 22987 broad.mit.edu 37 5 75490817 75490817 + Silent SNP A A G TCGA-EJ-8469-01A-11D-2395-08 TCGA-EJ-8469-10A-01D-2395-08 Untested Somatic Phase_I WXS none Illumina GAIIx a4f80437-b585-4146-b6e0-9e8e44fef3da 77d692db-a5c0-4d14-926a-d2f81943505a g.chr5:75490817A>G ENST00000502798.2 + 3 1096 c.654A>G c.(652-654)aaA>aaG p.K218K SV2C_ENST00000322285.7_Silent_p.K218K NM_014979.1 NP_055794.1 Q496J9 SV2C_HUMAN synaptic vesicle glycoprotein 2C 218 neurotransmitter transport cell junction|integral to membrane|synaptic vesicle membrane transmembrane transporter activity NS(1)|breast(1)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(5)|lung(14)|ovary(1)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 37 all_lung(232;0.007)|Lung NSC(167;0.0148)|Ovarian(174;0.0798)|Prostate(461;0.184) OV - Ovarian serous cystadenocarcinoma(47;1.16e-50)|all cancers(79;7.25e-40) TGGGAAGGAAACAGTCTCTTC 0.468 149 249 --- --- --- --- PCDHGC5 56097 broad.mit.edu 37 5 140869501 140869501 + Missense_Mutation SNP G G A TCGA-EJ-8469-01A-11D-2395-08 TCGA-EJ-8469-10A-01D-2395-08 Untested Somatic Phase_I WXS none Illumina GAIIx a4f80437-b585-4146-b6e0-9e8e44fef3da 77d692db-a5c0-4d14-926a-d2f81943505a g.chr5:140869501G>A ENST00000252087.1 + 1 694 c.694G>A c.(694-696)Gtg>Atg p.V232M PCDHGB2_ENST00000522605.1_Intron|PCDHGA12_ENST00000252085.3_Intron|PCDHGA3_ENST00000253812.6_Intron|PCDHGB4_ENST00000519479.1_Intron|PCDHGC4_ENST00000306593.1_Intron|PCDHGB3_ENST00000576222.1_Intron|PCDHGC3_ENST00000308177.3_Intron|PCDHGA8_ENST00000398604.2_Intron|PCDHGA5_ENST00000518069.1_Intron|PCDHGA2_ENST00000394576.2_Intron|PCDHGA6_ENST00000517434.1_Intron|PCDHGB1_ENST00000523390.1_Intron|PCDHGA4_ENST00000571252.1_Intron|PCDHGA7_ENST00000518325.1_Intron|PCDHGA10_ENST00000398610.2_Intron|PCDHGA11_ENST00000398587.2_Intron|PCDHGA1_ENST00000517417.1_Intron|PCDHGA9_ENST00000573521.1_Intron|PCDHGB7_ENST00000398594.2_Intron|PCDHGA11_ENST00000518882.1_Intron|PCDHGB6_ENST00000520790.1_Intron NM_018929.2|NM_032403.2|NM_032407.1 NP_061752.1|NP_115779.1|NP_115783.1 Q9Y5F6 PCDGM_HUMAN 232 Cadherin 2. homophilic cell adhesion integral to membrane|plasma membrane calcium ion binding breast(2)|central_nervous_system(2)|endometrium(6)|kidney(4)|large_intestine(4)|lung(10)|ovary(4)|prostate(1)|urinary_tract(2) 35 KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191) CTCTGTCATCGTGCTGGACAT 0.557 102 154 --- --- --- --- MUC17 140453 broad.mit.edu 37 7 100678305 100678305 + Missense_Mutation SNP C C T TCGA-EJ-8469-01A-11D-2395-08 TCGA-EJ-8469-10A-01D-2395-08 Untested Somatic Phase_I WXS none Illumina GAIIx a4f80437-b585-4146-b6e0-9e8e44fef3da 77d692db-a5c0-4d14-926a-d2f81943505a g.chr7:100678305C>T ENST00000306151.4 + 3 3672 c.3608C>T c.(3607-3609)aCt>aTt p.T1203I NM_001040105.1 NP_001035194.1 Q685J3 MUC17_HUMAN mucin 17, cell surface associated 1203 59 X approximate tandem repeats.|Ser-rich. extracellular region|integral to membrane|plasma membrane extracellular matrix constituent, lubricant activity 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) CCTCCTCCAACTGCTGAAGTT 0.517 19 626 --- --- --- --- ENPP2 5168 broad.mit.edu 37 8 120608106 120608106 + Missense_Mutation SNP G G A rs142695308 TCGA-EJ-8469-01A-11D-2395-08 TCGA-EJ-8469-10A-01D-2395-08 Untested Somatic Phase_I WXS none Illumina GAIIx a4f80437-b585-4146-b6e0-9e8e44fef3da 77d692db-a5c0-4d14-926a-d2f81943505a g.chr8:120608106G>A ENST00000259486.6 - 12 1158 c.1109C>T c.(1108-1110)gCg>gTg p.A370V ENPP2_ENST00000522826.1_Intron|ENPP2_ENST00000075322.6_Intron|ENPP2_ENST00000427067.2_Intron NM_006209.4 NP_006200.3 Q13822 ENPP2_HUMAN ectonucleotide pyrophosphatase/phosphodiesterase 2 324 cellular component movement|chemotaxis|G-protein coupled receptor protein signaling pathway|immune response|phosphate metabolic process|phosphatidylcholine catabolic process|regulation of cell migration extracellular space|integral to plasma membrane alkylglycerophosphoethanolamine phosphodiesterase activity|calcium ion binding|lysophospholipase activity|nucleic acid binding|nucleotide diphosphatase activity|phosphodiesterase I activity|polysaccharide binding|scavenger receptor activity|transcription factor binding|zinc ion binding p.A370V(1) breast(1)|central_nervous_system(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(15)|lung(30)|ovary(2)|prostate(2)|skin(4)|upper_aerodigestive_tract(4) 69 Lung NSC(37;5.03e-06)|Ovarian(258;0.0249)|Hepatocellular(40;0.161) STAD - Stomach adenocarcinoma(47;0.00185) ACGAGTTTCCGCAGCATAATG 0.443 19 540 --- --- --- --- ZFAT 57623 broad.mit.edu 37 8 135614479 135614479 + Missense_Mutation SNP T T C TCGA-EJ-8469-01A-11D-2395-08 TCGA-EJ-8469-10A-01D-2395-08 Untested Somatic Phase_I WXS none Illumina GAIIx a4f80437-b585-4146-b6e0-9e8e44fef3da 77d692db-a5c0-4d14-926a-d2f81943505a g.chr8:135614479T>C ENST00000520727.1 - 7 1746 c.1447A>G c.(1447-1449)Aac>Gac p.N483D ZFAT_ENST00000523399.1_Missense_Mutation_p.N433D|ZFAT_ENST00000377838.3_Missense_Mutation_p.N495D|ZFAT_ENST00000520356.1_Missense_Mutation_p.N483D|ZFAT_ENST00000520214.1_Missense_Mutation_p.N483D|ZFAT_ENST00000429442.2_Missense_Mutation_p.N483D NM_001029939.3 NP_001025110.2 Q9P243 ZFAT_HUMAN zinc finger and AT hook domain containing 495 regulation of transcription, DNA-dependent|transcription, DNA-dependent cytosol|nucleus DNA binding|zinc ion binding autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|endometrium(10)|kidney(9)|large_intestine(8)|lung(16)|prostate(3)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1) 54 all_epithelial(106;8.26e-19)|Lung NSC(106;3.47e-07)|all_lung(105;1.39e-06)|Ovarian(258;0.0102)|Acute lymphoblastic leukemia(118;0.155) BRCA - Breast invasive adenocarcinoma(115;0.0432) AAGCTCTGGTTGATGGAACTG 0.607 4 118 --- --- --- --- RECQL4 9401 broad.mit.edu 37 8 145741718 145741718 + Missense_Mutation SNP C C T TCGA-EJ-8469-01A-11D-2395-08 TCGA-EJ-8469-10A-01D-2395-08 Untested Somatic Phase_I WXS none Illumina GAIIx a4f80437-b585-4146-b6e0-9e8e44fef3da 77d692db-a5c0-4d14-926a-d2f81943505a g.chr8:145741718C>T ENST00000428558.2 - 5 826 c.785G>A c.(784-786)cGg>cAg p.R262Q RECQL4_ENST00000532237.1_5'UTR NM_004260.3 NP_004251.3 O94761 RECQ4_HUMAN RecQ protein-like 4 262 DNA duplex unwinding|DNA recombination|DNA repair cytoplasm|nucleus ATP binding|ATP-dependent 3'-5' DNA helicase activity|bubble DNA binding|DNA strand annealing activity|zinc ion binding breast(2)|central_nervous_system(1)|endometrium(5)|kidney(1)|lung(10)|ovary(1)|prostate(3)|skin(1)|upper_aerodigestive_tract(2) 26 all_cancers(97;5.56e-11)|all_epithelial(106;3.54e-10)|Lung NSC(106;5.7e-05)|all_lung(105;0.000174)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155) OV - Ovarian serous cystadenocarcinoma(54;1.48e-41)|Epithelial(56;1.85e-40)|all cancers(56;3.59e-35)|BRCA - Breast invasive adenocarcinoma(115;0.0483)|Colorectal(110;0.055) GTTCCATCTCCGCTTCTCGCC 0.672 """N, F, S""" """osteosarcoma, skin basal and sqamous cell""" Genes defective in diseases associated with sensitivity to DNA damaging agents Rothmund-Thomson syndrome;RAPADILINO syndrome;Baller-Gerold syndrome 8 85 --- --- --- --- PC 5091 broad.mit.edu 37 11 66616483 66616483 + Missense_Mutation SNP C C A TCGA-EJ-8469-01A-11D-2395-08 TCGA-EJ-8469-10A-01D-2395-08 Untested Somatic Phase_I WXS none Illumina GAIIx a4f80437-b585-4146-b6e0-9e8e44fef3da 77d692db-a5c0-4d14-926a-d2f81943505a g.chr11:66616483C>A ENST00000393960.1 - 23 3705 c.3424G>T c.(3424-3426)Gcc>Tcc p.A1142S PC_ENST00000529047.1_Missense_Mutation_p.A262S|PC_ENST00000528224.1_5'UTR|PC_ENST00000393955.2_Missense_Mutation_p.A1142S|PC_ENST00000393958.2_Missense_Mutation_p.A1142S NM_001040716.1 NP_001035806.1 P11498 PYC_HUMAN pyruvate carboxylase 1142 Biotinyl-binding. gluconeogenesis|lipid biosynthetic process mitochondrial matrix ATP binding|biotin binding|biotin carboxylase activity|metal ion binding|pyruvate carboxylase activity cervix(1)|endometrium(3)|kidney(3)|large_intestine(9)|lung(12)|ovary(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 32 Melanoma(852;0.0525) Lung(977;0.153)|LUSC - Lung squamous cell carcinoma(976;0.227) Biotin(DB00121)|Pyruvic acid(DB00119) ATCTTCATGGCACTGAGCACA 0.592 5 211 --- --- --- --- FAT3 120114 broad.mit.edu 37 11 92086739 92086739 + Silent SNP G G A TCGA-EJ-8469-01A-11D-2395-08 TCGA-EJ-8469-10A-01D-2395-08 Untested Somatic Phase_I WXS none Illumina GAIIx a4f80437-b585-4146-b6e0-9e8e44fef3da 77d692db-a5c0-4d14-926a-d2f81943505a g.chr11:92086739G>A ENST00000298047.6 + 1 1478 c.1461G>A c.(1459-1461)gtG>gtA p.V487V FAT3_ENST00000541502.1_Silent_p.V487V|FAT3_ENST00000409404.2_Silent_p.V487V|FAT3_ENST00000525166.1_Silent_p.V337V Q8TDW7 FAT3_HUMAN FAT atypical cadherin 3 487 Cadherin 5. homophilic cell adhesion|multicellular organismal development integral to membrane|plasma membrane calcium ion binding NS(1)|breast(2)|endometrium(10)|kidney(4)|large_intestine(11)|liver(2)|lung(37)|ovary(5)|pancreas(1)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(5) 85 Acute lymphoblastic leukemia(157;3.01e-05)|all_hematologic(158;0.00858) GTGTCCCAGTGGGAACCAGCG 0.418 TCGA Ovarian(4;0.039) 19 43 --- --- --- --- IFT140 9742 broad.mit.edu 37 16 1576790 1576790 + Missense_Mutation SNP C C A TCGA-EJ-8469-01A-11D-2395-08 TCGA-EJ-8469-10A-01D-2395-08 Untested Somatic Phase_I WXS none Illumina GAIIx a4f80437-b585-4146-b6e0-9e8e44fef3da 77d692db-a5c0-4d14-926a-d2f81943505a g.chr16:1576790C>A ENST00000426508.2 - 20 2770 c.2407G>T c.(2407-2409)Gtc>Ttc p.V803F IFT140_ENST00000361339.5_5'UTR NM_014714.3 NP_055529.2 Q96RY7 IF140_HUMAN intraflagellar transport 140 homolog (Chlamydomonas) 803 breast(1)|central_nervous_system(2)|endometrium(7)|kidney(4)|large_intestine(12)|lung(10)|ovary(5)|pancreas(1)|prostate(4)|skin(4)|stomach(2)|urinary_tract(1) 53 Hepatocellular(780;0.219) TTCTCCCAGACGGCCTCACTG 0.692 3 46 --- --- --- --- CES4A 283848 broad.mit.edu 37 16 67037031 67037031 + Missense_Mutation SNP C C T TCGA-EJ-8469-01A-11D-2395-08 TCGA-EJ-8469-10A-01D-2395-08 Untested Somatic Phase_I WXS none Illumina GAIIx a4f80437-b585-4146-b6e0-9e8e44fef3da 77d692db-a5c0-4d14-926a-d2f81943505a g.chr16:67037031C>T ENST00000540947.2 + 6 933 c.749C>T c.(748-750)gCg>gTg p.A250V CES4A_ENST00000398354.1_Missense_Mutation_p.A250V|CES4A_ENST00000535696.1_Missense_Mutation_p.A156V|CES4A_ENST00000338718.4_Missense_Mutation_p.A273V|CES4A_ENST00000326686.5_Missense_Mutation_p.A250V|CES4A_ENST00000541479.1_Missense_Mutation_p.A273V|CES4A_ENST00000540579.1_Missense_Mutation_p.A152V NM_173815.6 NP_776176.5 Q5XG92 EST4A_HUMAN carboxylesterase 4A 250 extracellular region carboxylesterase activity large_intestine(2)|liver(2)|lung(4)|ovary(1) 9 AGTGGCACCGCGTTATTCAGA 0.552 64 37 --- --- --- --- KIAA0753 9851 broad.mit.edu 37 17 6503779 6503779 + Splice_Site SNP C C T TCGA-EJ-8469-01A-11D-2395-08 TCGA-EJ-8469-10A-01D-2395-08 Untested Somatic Phase_I WXS none Illumina GAIIx a4f80437-b585-4146-b6e0-9e8e44fef3da 77d692db-a5c0-4d14-926a-d2f81943505a g.chr17:6503779C>T ENST00000361413.3 - 13 2368 c.e13-1 KIAA0753_ENST00000542606.1_Splice_Site|KIAA0753_ENST00000575027.1_Splice_Site|KIAA0753_ENST00000572370.1_Splice_Site|KIAA0753_ENST00000589033.1_Splice_Site NM_014804.2 NP_055619.2 Q2KHM9 K0753_HUMAN KIAA0753 centrosome endometrium(4)|large_intestine(11)|lung(5)|prostate(4) 24 COAD - Colon adenocarcinoma(228;0.157) GGCAGAAACACTATTTAGAAA 0.383 46 90 --- --- --- --- SLC4A1 6521 broad.mit.edu 37 17 42340029 42340029 + Silent SNP G G A rs56387601 TCGA-EJ-8469-01A-11D-2395-08 TCGA-EJ-8469-10A-01D-2395-08 Untested Somatic Phase_I WXS none Illumina GAIIx a4f80437-b585-4146-b6e0-9e8e44fef3da 77d692db-a5c0-4d14-926a-d2f81943505a g.chr17:42340029G>A ENST00000262418.6 - 3 236 c.81C>T c.(79-81)ccC>ccT p.P27P AC003043.1_ENST00000597382.1_Intron NM_000342.3 NP_000333.1 P02730 B3AT_HUMAN solute carrier family 4 (anion exchanger), member 1 27 P -> H (in dbSNP:rs55777403). bicarbonate transport|cellular ion homeostasis basolateral plasma membrane|cortical cytoskeleton|integral to plasma membrane|Z disc ankyrin binding|chloride transmembrane transporter activity|inorganic anion exchanger activity|protein anchor|protein homodimerization activity central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(9)|lung(16)|ovary(2)|prostate(3)|skin(1)|urinary_tract(1) 40 Breast(137;0.014)|Prostate(33;0.0181) BRCA - Breast invasive adenocarcinoma(366;0.115) TCTGGGACTCGGGGATGTCTG 0.597 11 27 --- --- --- --- DNAH17 8632 broad.mit.edu 37 17 76563191 76563191 + Missense_Mutation SNP C C T TCGA-EJ-8469-01A-11D-2395-08 TCGA-EJ-8469-10A-01D-2395-08 Untested Somatic Phase_I WXS none Illumina GAIIx a4f80437-b585-4146-b6e0-9e8e44fef3da 77d692db-a5c0-4d14-926a-d2f81943505a g.chr17:76563191C>T ENST00000389840.5 - 10 1466 c.1342G>A c.(1342-1344)Gtg>Atg p.V448M DNAH17_ENST00000585328.1_Missense_Mutation_p.V448M dynein, axonemal, heavy chain 17 NS(2)|breast(7)|central_nervous_system(5)|cervix(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(1)|kidney(13)|large_intestine(8)|lung(37)|ovary(8)|prostate(7)|skin(4)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(3) 116 BRCA - Breast invasive adenocarcinoma(99;0.00294)|OV - Ovarian serous cystadenocarcinoma(97;0.0656) TTCCCACGCACGCCCCCAAGC 0.488 15 13 --- --- --- --- HGS 9146 broad.mit.edu 37 17 79657219 79657219 + Silent SNP C C A TCGA-EJ-8469-01A-11D-2395-08 TCGA-EJ-8469-10A-01D-2395-08 Untested Somatic Phase_I WXS none Illumina GAIIx a4f80437-b585-4146-b6e0-9e8e44fef3da 77d692db-a5c0-4d14-926a-d2f81943505a g.chr17:79657219C>A ENST00000329138.4 + 6 558 c.423C>A c.(421-423)gtC>gtA p.V141V NM_004712.4 NP_004703.1 O14964 HGS_HUMAN hepatocyte growth factor-regulated tyrosine kinase substrate 141 VHS. cellular membrane organization|endosome transport|epidermal growth factor receptor signaling pathway|intracellular protein transport|negative regulation of cell proliferation|negative regulation of epidermal growth factor receptor signaling pathway|negative regulation of JAK-STAT cascade|regulation of protein catabolic process cytosol|early endosome membrane|multivesicular body membrane metal ion binding|protein domain specific binding endometrium(2)|kidney(3)|lung(4)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1) 12 all_neural(118;0.0878)|all_lung(278;0.23) BRCA - Breast invasive adenocarcinoma(99;0.0101)|OV - Ovarian serous cystadenocarcinoma(97;0.0955) CAGGGCACGTCTTTCCAGAAT 0.607 14 146 --- --- --- --- TPM4 7171 broad.mit.edu 37 19 16204531 16204531 + Missense_Mutation SNP C C G TCGA-EJ-8469-01A-11D-2395-08 TCGA-EJ-8469-10A-01D-2395-08 Untested Somatic Phase_I WXS none Illumina GAIIx a4f80437-b585-4146-b6e0-9e8e44fef3da 77d692db-a5c0-4d14-926a-d2f81943505a g.chr19:16204531C>G ENST00000300933.4 + 7 892 c.632C>G c.(631-633)gCa>gGa p.A211G TPM4_ENST00000538887.1_Missense_Mutation_p.A247G|TPM4_ENST00000591645.1_3'UTR|TPM4_ENST00000344824.6_Missense_Mutation_p.A247G NM_003290.2 NP_003281.1 P67936 TPM4_HUMAN tropomyosin 4 211 cellular component movement|muscle filament sliding|response to oxidative stress cytosol|muscle thin filament tropomyosin|stress fiber actin binding|calcium ion binding|structural constituent of muscle TPM4/ALK(12) breast(1)|large_intestine(3) 4 AGAACGGTTGCAAAACTGGAA 0.483 T ALK ALCL 5 196 --- --- --- --- CATSPERG 57828 broad.mit.edu 37 19 38852407 38852407 + Missense_Mutation SNP T T G TCGA-EJ-8469-01A-11D-2395-08 TCGA-EJ-8469-10A-01D-2395-08 Untested Somatic Phase_I WXS none Illumina GAIIx a4f80437-b585-4146-b6e0-9e8e44fef3da 77d692db-a5c0-4d14-926a-d2f81943505a g.chr19:38852407T>G ENST00000409235.3 + 17 2115 c.2000T>G c.(1999-2001)gTc>gGc p.V667G CATSPERG_ENST00000410018.1_Missense_Mutation_p.V627G|CATSPERG_ENST00000215069.4_3'UTR NM_021185.4 NP_067008.3 Q6ZRH7 CTSRG_HUMAN catsper channel auxiliary subunit gamma 667 cell differentiation|multicellular organismal development|spermatogenesis integral to membrane breast(1)|endometrium(5)|kidney(2)|large_intestine(4)|lung(13)|ovary(1)|pancreas(2)|prostate(6)|skin(3)|stomach(1)|urinary_tract(2) 40 CCGCCGCGCGTCCTGGAGCGC 0.667 5 24 --- --- --- --- TRIOBP 11078 broad.mit.edu 37 22 38121845 38121845 + Silent SNP C C T TCGA-EJ-8469-01A-11D-2395-08 TCGA-EJ-8469-10A-01D-2395-08 Untested Somatic Phase_I WXS none Illumina GAIIx a4f80437-b585-4146-b6e0-9e8e44fef3da 77d692db-a5c0-4d14-926a-d2f81943505a g.chr22:38121845C>T ENST00000406386.3 + 7 3537 c.3282C>T c.(3280-3282)gcC>gcT p.A1094A NM_001039141.2 NP_001034230.1 Q9H2D6 TARA_HUMAN TRIO and F-actin binding protein 1094 actin modification|barbed-end actin filament capping actin cytoskeleton|cytoplasm|nucleus actin binding|GTP-Rho binding|myosin II binding|protein binding|ubiquitin protein ligase binding central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(3)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1) 12 Melanoma(58;0.0574) CATCAGATGCCGAGCATCAGT 0.652 6 279 --- --- --- --- KLHL4 56062 broad.mit.edu 37 X 86887270 86887270 + Missense_Mutation SNP T T C TCGA-EJ-8469-01A-11D-2395-08 TCGA-EJ-8469-10A-01D-2395-08 Untested Somatic Phase_I WXS none Illumina GAIIx a4f80437-b585-4146-b6e0-9e8e44fef3da 77d692db-a5c0-4d14-926a-d2f81943505a g.chrX:86887270T>C ENST00000373119.4 + 7 1530 c.1385T>C c.(1384-1386)aTg>aCg p.M462T KLHL4_ENST00000373114.4_Missense_Mutation_p.M462T NM_019117.4 NP_061990.2 Q9C0H6 KLHL4_HUMAN kelch-like family member 4 462 cytoplasm|microtubule cytoskeleton|nucleolus actin binding NS(1)|biliary_tract(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(19)|lung(29)|ovary(2)|prostate(1)|skin(1) 67 ATTGGCACCATGAATGGCCGT 0.393 3 43 --- --- --- --- FAS 355 broad.mit.edu 37 10 90768708 90768708 + Frame_Shift_Del DEL T T - TCGA-EJ-8469-01A-11D-2395-08 TCGA-EJ-8469-10A-01D-2395-08 Untested Somatic Phase_I WXS none Illumina GAIIx a4f80437-b585-4146-b6e0-9e8e44fef3da 77d692db-a5c0-4d14-926a-d2f81943505a g.chr10:90768708delT ENST00000355740.2 + 4 617 c.397delT c.(397-399)tttfs p.F134fs FAS_ENST00000313771.5_3'UTR|FAS_ENST00000357339.2_Frame_Shift_Del_p.F134fs|FAS_ENST00000355279.2_Frame_Shift_Del_p.F134fs|FAS_ENST00000352159.4_Frame_Shift_Del_p.F134fs NM_000043.4|NM_152871.2|NM_152872.2 NP_000034.1|NP_690610.1|NP_690611.1 P25445 TNR6_HUMAN Fas cell surface death receptor 134 activation of caspase activity|activation of pro-apoptotic gene products|anti-apoptosis|cellular response to mechanical stimulus|positive regulation of necrotic cell death cytosol|extracellular region|integral to membrane|soluble fraction identical protein binding|kinase binding breast(1)|haematopoietic_and_lymphoid_tissue(4)|kidney(3)|large_intestine(3)|lung(5)|upper_aerodigestive_tract(2) 18 Colorectal(252;0.0161) Colorectal(12;0.000136)|COAD - Colon adenocarcinoma(12;0.000193) TAAACCAAACTTTTTTTGTAA 0.368 7 831 --- --- --- --- AHNAK 79026 broad.mit.edu 37 11 62299465 62299466 + Frame_Shift_Ins INS - - A TCGA-EJ-8469-01A-11D-2395-08 TCGA-EJ-8469-10A-01D-2395-08 Untested Somatic Phase_I WXS none Illumina GAIIx a4f80437-b585-4146-b6e0-9e8e44fef3da 77d692db-a5c0-4d14-926a-d2f81943505a g.chr11:62299465_62299466insA ENST00000378024.4 - 5 2697_2698 c.2423_2424insT c.(2422-2424)atgfs p.M808fs AHNAK_ENST00000530124.1_Intron|AHNAK_ENST00000257247.7_Intron NM_001620.1 NP_001611.1 Q09666 AHNK_HUMAN AHNAK nucleoprotein 808 nervous system development nucleus protein binding NS(3)|autonomic_ganglia(1)|breast(10)|central_nervous_system(5)|endometrium(17)|haematopoietic_and_lymphoid_tissue(2)|kidney(33)|large_intestine(40)|liver(1)|lung(108)|ovary(13)|pancreas(4)|prostate(5)|skin(16)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(6) 268 Melanoma(852;0.155) TCATCTCAGGCATCTTAAACTT 0.460 16 429 --- --- --- ---