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 SLC46A1 113235 broad.mit.edu 37 17 26731690 26731690 + Missense_Mutation SNP T T C TCGA-PR-A5PH-01A-11D-A35D-08 TCGA-PR-A5PH-10B-01D-A35B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 02e189ce-0887-486f-98bc-09fa7cebb469 006fbf55-10ae-425b-bce6-2388efa68939 g.chr17:26731690T>C ENST00000440501.1 - 2 1120 c.1025A>G c.(1024-1026)aAc>aGc p.N342S SLC46A1_ENST00000321666.5_Missense_Mutation_p.N342S|SLC46A1_ENST00000584729.1_5'UTR NM_080669.4 NP_542400.2 Q96NT5 PCFT_HUMAN solute carrier family 46 (folate transporter), member 1 342 cellular iron ion homeostasis|folic acid metabolic process apical plasma membrane|cytoplasm|integral to membrane folic acid binding|folic acid transporter activity|heme transporter activity lung(5) 5 all_lung(13;0.000533)|Lung NSC(42;0.00171) UCEC - Uterine corpus endometrioid carcinoma (53;0.153) Folic Acid(DB00158) CCCCAGGATGTTGAAGGCCAG 0.597000 8 13 0 0 1 0 0 PWWP2B 170394 broad.mit.edu 37 10 134218293 134218293 + Missense_Mutation SNP A A C TCGA-PR-A5PH-01A-11D-A35D-08 TCGA-PR-A5PH-10B-01D-A35B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 02e189ce-0887-486f-98bc-09fa7cebb469 006fbf55-10ae-425b-bce6-2388efa68939 g.chr10:134218293A>C ENST00000305233.5 + 2 348 c.289A>C c.(289-291)Acc>Ccc p.T97P PWWP2B_ENST00000368609.4_Missense_Mutation_p.T97P NM_138499.3 NP_612508.3 Q6NUJ5 PWP2B_HUMAN PWWP domain containing 2B 97 Pro-rich. central_nervous_system(1)|endometrium(1)|large_intestine(1)|lung(5)|urinary_tract(1) 9 all_cancers(35;6.69e-12)|all_epithelial(44;1.55e-08)|Lung NSC(174;0.000845)|all_lung(145;0.00144)|all_neural(114;0.0299)|Breast(234;0.106)|Colorectal(31;0.109)|Melanoma(40;0.123)|Glioma(114;0.203)|all_hematologic(284;0.224) OV - Ovarian serous cystadenocarcinoma(35;7.49e-05)|Epithelial(32;0.00016)|all cancers(32;0.000186) CCCCGAGACCACCCGCCCCGA 0.756000 7 11 0 0 1 0 0 FRG1BP 284802 broad.mit.edu 37 20 29625971 29625971 + Missense_Mutation SNP C C A rs145033899 TCGA-PR-A5PH-01A-11D-A35D-08 TCGA-PR-A5PH-10B-01D-A35B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 02e189ce-0887-486f-98bc-09fa7cebb469 006fbf55-10ae-425b-bce6-2388efa68939 g.chr20:29625971C>A ENST00000278882.3 + 5 595 c.215C>A c.(214-216)cCa>cAa p.P72Q FRG1B_ENST00000358464.4_Missense_Mutation_p.P72Q|FRG1B_ENST00000439954.2_Missense_Mutation_p.P77Q endometrium(10)|kidney(21)|lung(3)|pancreas(1)|prostate(9)|urinary_tract(9) 53 CAATGGGAACCAGTCTTTCAA 0.328000 4 133 1.23904e-05 1.23904e-05 1 1 0 ATP13A4 84239 broad.mit.edu 37 3 193183900 193183900 + Missense_Mutation SNP T T C TCGA-PR-A5PH-01A-11D-A35D-08 TCGA-PR-A5PH-10B-01D-A35B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 02e189ce-0887-486f-98bc-09fa7cebb469 006fbf55-10ae-425b-bce6-2388efa68939 g.chr3:193183900T>C ENST00000342695.4 - 11 1508 c.1186A>G c.(1186-1188)Agg>Ggg p.R396G ATP13A4_ENST00000392443.3_Missense_Mutation_p.R396G|ATP13A4_ENST00000295548.3_Missense_Mutation_p.R396G NM_032279.2 NP_115655.2 Q4VNC1 AT134_HUMAN ATPase type 13A4 396 ATP biosynthetic process|cation transport integral to membrane ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|metal ion binding breast(2)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(9)|lung(27)|ovary(2)|prostate(3)|skin(11)|upper_aerodigestive_tract(2) 71 all_cancers(143;1.76e-08)|Ovarian(172;0.0386) OV - Ovarian serous cystadenocarcinoma(49;2.72e-18)|LUSC - Lung squamous cell carcinoma(58;3.55e-06)|Lung(62;4.19e-06) GBM - Glioblastoma multiforme(46;0.000109) ATGGCATCCCTGTACAACTGA 0.478000 81 126 0 0 1 0 0 RP11-24M17.5 0 broad.mit.edu 37 15 76074431 76074431 + RNA SNP C C T rs149323153 by1000genomes TCGA-PR-A5PH-01A-11D-A35D-08 TCGA-PR-A5PH-10B-01D-A35B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 02e189ce-0887-486f-98bc-09fa7cebb469 006fbf55-10ae-425b-bce6-2388efa68939 g.chr15:76074431C>T ENST00000395215.3 + 0 610 p.S190L(2) CTCCAGTCCTCGAGCTGCAGA 0.547000 5 29 0 0 1 0 0 EP400 57634 broad.mit.edu 37 12 132547087 132547087 + Silent SNP G G A rs12366766 TCGA-PR-A5PH-01A-11D-A35D-08 TCGA-PR-A5PH-10B-01D-A35B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 02e189ce-0887-486f-98bc-09fa7cebb469 006fbf55-10ae-425b-bce6-2388efa68939 g.chr12:132547087G>A ENST00000333577.4 + 48 8392 c.8283G>A c.(8281-8283)caG>caA p.Q2761Q EP400_ENST00000389562.2_Silent_p.Q2724Q|EP400_ENST00000389561.2_Silent_p.Q2725Q|EP400_ENST00000330386.6_Silent_p.Q2644Q|EP400_ENST00000332482.4_Silent_p.Q2688Q Q96L91 EP400_HUMAN E1A binding protein p400 2761 Interaction with ZNF42 (By similarity).|Poly-Gln. histone H2A acetylation|histone H4 acetylation|regulation of transcription, DNA-dependent NuA4 histone acetyltransferase complex|nuclear speck ATP binding|DNA binding|helicase activity p.Q2724Q(16)|p.Q2725Q(1) NS(1)|breast(6)|central_nervous_system(10)|cervix(1)|endometrium(21)|kidney(13)|large_intestine(25)|lung(56)|ovary(5)|prostate(8)|skin(6)|stomach(4)|upper_aerodigestive_tract(2)|urinary_tract(3) 161 all_neural(191;0.0982)|Medulloblastoma(191;0.163) all_epithelial(31;0.198) OV - Ovarian serous cystadenocarcinoma(86;3.01e-08)|Epithelial(86;3.43e-07)|all cancers(50;2.01e-06) agcagcagcagcaacaacagc 0.562000 4 43 0 0 1 0 0 MYLK 4638 broad.mit.edu 37 3 123383036 123383036 + Missense_Mutation SNP G G A TCGA-PR-A5PH-01A-11D-A35D-08 TCGA-PR-A5PH-10B-01D-A35B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 02e189ce-0887-486f-98bc-09fa7cebb469 006fbf55-10ae-425b-bce6-2388efa68939 g.chr3:123383036G>A ENST00000360772.3 - 24 4279 c.3901C>T c.(3901-3903)Cgc>Tgc p.R1301C MYLK_ENST00000475616.1_Missense_Mutation_p.R1301C|MYLK_ENST00000360304.3_Missense_Mutation_p.R1301C|MYLK_ENST00000359169.1_Missense_Mutation_p.R1301C|MYLK_ENST00000354792.5_Missense_Mutation_p.R101C|MYLK_ENST00000346322.5_Missense_Mutation_p.R1232C Q15746 MYLK_HUMAN myosin light chain kinase 1301 Actin-binding (calcium/calmodulin- insensitive) (By similarity).|Ig-like C2-type 8. aorta smooth muscle tissue morphogenesis|muscle contraction cytosol actin binding|ATP binding|calmodulin binding|metal ion binding|myosin light chain kinase activity NS(2)|breast(4)|central_nervous_system(1)|endometrium(24)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(17)|lung(37)|ovary(7)|prostate(3)|skin(5)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(2) 113 Lung NSC(201;0.0496) GBM - Glioblastoma multiforme(114;0.0736) TGCTCCTGGCGCGCGGCCAGG 0.627000 4 114 0 0 1 0 0 ACTR1B 10120 broad.mit.edu 37 2 98275013 98275013 + Silent SNP G G A TCGA-PR-A5PH-01A-11D-A35D-08 TCGA-PR-A5PH-10B-01D-A35B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 02e189ce-0887-486f-98bc-09fa7cebb469 006fbf55-10ae-425b-bce6-2388efa68939 g.chr2:98275013G>A ENST00000289228.5 - 6 750 c.534C>T c.(532-534)caC>caT p.H178H NM_005735.3 NP_005726.1 P42025 ACTY_HUMAN ARP1 actin-related protein 1 homolog B, centractin beta (yeast) 178 centrosome|dynactin complex ATP binding|protein binding endometrium(1)|large_intestine(5)|lung(7)|ovary(1)|skin(1) 15 GCATGATGGAGTGAGGCATGG 0.602000 27 42 0 0 1 0 0 MERTK 10461 broad.mit.edu 37 2 112755020 112755020 + Missense_Mutation SNP C C T TCGA-PR-A5PH-01A-11D-A35D-08 TCGA-PR-A5PH-10B-01D-A35B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 02e189ce-0887-486f-98bc-09fa7cebb469 006fbf55-10ae-425b-bce6-2388efa68939 g.chr2:112755020C>T ENST00000295408.4 + 10 1828 c.1571C>T c.(1570-1572)gCc>gTc p.A524V MERTK_ENST00000409780.1_Missense_Mutation_p.A348V|MERTK_ENST00000421804.2_Missense_Mutation_p.A524V Q12866 MERTK_HUMAN c-mer proto-oncogene tyrosine kinase 524 cell surface receptor linked signaling pathway|cell-cell signaling|leukocyte migration integral to plasma membrane|soluble fraction ATP binding|transmembrane receptor protein tyrosine kinase activity breast(1)|endometrium(3)|kidney(2)|large_intestine(6)|liver(1)|lung(18)|pancreas(1)|skin(1)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(10) 46 ATCTCCTTGGCCATCAGAAAA 0.433000 4 85 0 0 1 0 0 CDKN2C 1031 broad.mit.edu 37 1 51439844 51439844 + Missense_Mutation SNP G G A TCGA-PR-A5PH-01A-11D-A35D-08 TCGA-PR-A5PH-10B-01D-A35B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 02e189ce-0887-486f-98bc-09fa7cebb469 006fbf55-10ae-425b-bce6-2388efa68939 g.chr1:51439844G>A ENST00000262662.1 + 4 2443 c.409G>A c.(409-411)Ggg>Agg p.G137R CDKN2C_ENST00000396148.1_Missense_Mutation_p.G137R|CDKN2C_ENST00000371761.3_Missense_Mutation_p.G137R P42773 CDN2C_HUMAN cyclin-dependent kinase inhibitor 2C (p18, inhibits CDK4) 137 cell cycle arrest|G1 phase of mitotic cell cycle|G1/S transition of mitotic cell cycle|induction of apoptosis|negative regulation of cell growth|negative regulation of cell proliferation|regulation of cyclin-dependent protein kinase activity cytosol|nucleus cyclin-dependent protein kinase inhibitor activity|protein kinase binding p.0?(11)|p.?(1) central_nervous_system(8)|haematopoietic_and_lymphoid_tissue(5)|kidney(2)|large_intestine(2)|lung(2)|ovary(2)|prostate(1)|thyroid(1) 23 GBM - Glioblastoma multiforme(3;3.61e-13)|all cancers(3;0.00151) GAACCATAAGGGGGACACCGC 0.577000 D """glioma, MM""" 10 13 0 0 1 0 0 DGUOK 1716 broad.mit.edu 37 2 74154050 74154050 + Missense_Mutation SNP C C T TCGA-PR-A5PH-01A-11D-A35D-08 TCGA-PR-A5PH-10B-01D-A35B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 02e189ce-0887-486f-98bc-09fa7cebb469 006fbf55-10ae-425b-bce6-2388efa68939 g.chr2:74154050C>T ENST00000264093.4 + 1 98 c.13C>T c.(13-15)Cgc>Tgc p.R5C DGUOK_ENST00000348222.1_Missense_Mutation_p.R5C|DGUOK_ENST00000356837.6_Missense_Mutation_p.R5C|DGUOK_ENST00000462685.1_3'UTR NM_080916.2 NP_550438.1 Q16854 DGUOK_HUMAN deoxyguanosine kinase 5 guanosine metabolic process|purine base metabolic process|purine deoxyribonucleoside metabolic process|purine-containing compound salvage mitochondrial matrix ATP binding|deoxyguanosine kinase activity|phosphotransferase activity, alcohol group as acceptor endometrium(1)|lung(5)|prostate(1)|upper_aerodigestive_tract(1) 8 GGCCGCGGGCCGCCTCTTTCT 0.657000 13 23 0 0 1 0 0 ZNF574 64763 broad.mit.edu 37 19 42584207 42584207 + Silent SNP G G A TCGA-PR-A5PH-01A-11D-A35D-08 TCGA-PR-A5PH-10B-01D-A35B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 02e189ce-0887-486f-98bc-09fa7cebb469 006fbf55-10ae-425b-bce6-2388efa68939 g.chr19:42584207G>A ENST00000600245.1 + 2 2104 c.1449G>A c.(1447-1449)cgG>cgA p.R483R ZNF574_ENST00000359044.4_Silent_p.R483R|CTB-59C6.3_ENST00000594531.1_RNA|ZNF574_ENST00000222339.7_Silent_p.R573R Q6ZN55 ZN574_HUMAN zinc finger protein 574 483 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding endometrium(4)|kidney(1)|large_intestine(3)|lung(6)|pancreas(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1) 20 Prostate(69;0.059) AGCTGACCCGGCACCAACGTT 0.597000 4 105 0 0 1 0 0 NBPF20 100288142 broad.mit.edu 37 1 148252785 148252785 + Missense_Mutation SNP T T C TCGA-PR-A5PH-01A-11D-A35D-08 TCGA-PR-A5PH-10B-01D-A35B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 02e189ce-0887-486f-98bc-09fa7cebb469 006fbf55-10ae-425b-bce6-2388efa68939 g.chr1:148252785T>C ENST00000369202.1 - 110 13764 c.13567A>G c.(13567-13569)Aaa>Gaa p.K4523E neuroblastoma breakpoint family, member 20 breast(1)|cervix(2)|endometrium(6)|kidney(1)|large_intestine(5)|lung(10)|prostate(1)|urinary_tract(1) 27 cttcttcttttcttctttgat 0.418000 5 73 0 0 1 0 0 FAM105B 90268 broad.mit.edu 37 5 14690382 14690382 + Missense_Mutation SNP C C G TCGA-PR-A5PH-01A-11D-A35D-08 TCGA-PR-A5PH-10B-01D-A35B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 02e189ce-0887-486f-98bc-09fa7cebb469 006fbf55-10ae-425b-bce6-2388efa68939 g.chr5:14690382C>G ENST00000284274.4 + 6 907 c.829C>G c.(829-831)Ctc>Gtc p.L277V NM_138348.4 NP_612357.4 Q96BN8 F105B_HUMAN family with sequence similarity 105, member B 277 breast(1)|kidney(1)|large_intestine(3)|lung(6)|ovary(2)|upper_aerodigestive_tract(1) 14 Lung NSC(4;0.00696) GAGGAACCACCTCAACCAGGT 0.423000 20 44 0 0 1 0 0 PCDH11Y 83259 broad.mit.edu 37 Y 4968046 4968046 + Silent SNP C C T TCGA-PR-A5PH-01A-11D-A35D-08 TCGA-PR-A5PH-10B-01D-A35B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 02e189ce-0887-486f-98bc-09fa7cebb469 006fbf55-10ae-425b-bce6-2388efa68939 g.chrY:4968046C>T ENST00000333703.4 + 5 2907 c.2394C>T c.(2392-2394)acC>acT p.T798T PCDH11Y_ENST00000215473.6_Silent_p.T809T|PCDH11Y_ENST00000362095.5_Silent_p.T809T NM_001278619.1|NM_032971.2 NP_001265548.1|NP_116753.1 Q9BZA8 PC11Y_HUMAN protocadherin 11 Y-linked 809 Cadherin 7. homophilic cell adhesion integral to membrane|plasma membrane calcium ion binding autonomic_ganglia(1)|kidney(2)|large_intestine(7)|lung(14)|prostate(1)|skin(1)|upper_aerodigestive_tract(1) 27 AGTCAGTGACCAATGCTACAC 0.423000 4 73 0 0 1 0 0 DOCK9 23348 broad.mit.edu 37 13 99538837 99538837 + Silent SNP G G A TCGA-PR-A5PH-01A-11D-A35D-08 TCGA-PR-A5PH-10B-01D-A35B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 02e189ce-0887-486f-98bc-09fa7cebb469 006fbf55-10ae-425b-bce6-2388efa68939 g.chr13:99538837G>A ENST00000376460.1 - 19 2165 c.2085C>T c.(2083-2085)agC>agT p.S695S DOCK9_ENST00000442173.1_Silent_p.S695S|DOCK9_ENST00000339416.2_Silent_p.S696S|DOCK9_ENST00000448493.2_Silent_p.S707S NM_001130048.1|NM_015296.2 NP_001123520.1|NP_056111.1 Q9BZ29 DOCK9_HUMAN dedicator of cytokinesis 9 696 DHR-1. blood coagulation cytosol|endomembrane system|membrane GTP binding|GTPase binding|guanyl-nucleotide exchange factor activity breast(3)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(12)|lung(18)|prostate(3)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 59 all_neural(89;0.101)|Medulloblastoma(90;0.18)|Lung SC(71;0.184) CAGCAAAGGCGCTTCTTGTGA 0.383000 15 20 0 0 1 0 0 MST1L 11223 broad.mit.edu 37 1 17085189 17085189 + RNA SNP A A G TCGA-PR-A5PH-01A-11D-A35D-08 TCGA-PR-A5PH-10B-01D-A35B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 02e189ce-0887-486f-98bc-09fa7cebb469 006fbf55-10ae-425b-bce6-2388efa68939 g.chr1:17085189A>G ENST00000455405.2 - 0 87 p.S428P(1) TCCAGGATTGATGGCGGCTGG 0.572000 4 24 0 0 1 0 0 RP11-24M17.5 0 broad.mit.edu 37 15 76074470 76074470 + RNA SNP A A G TCGA-PR-A5PH-01A-11D-A35D-08 TCGA-PR-A5PH-10B-01D-A35B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 02e189ce-0887-486f-98bc-09fa7cebb469 006fbf55-10ae-425b-bce6-2388efa68939 g.chr15:76074470A>G ENST00000395215.3 + 0 649 p.Q203R(4) CGGTTACAGCAGACCATAAAG 0.577000 4 33 0 0 1 0 0 PTPN13 5783 broad.mit.edu 37 4 87701607 87701607 + Missense_Mutation SNP A A G TCGA-PR-A5PH-01A-11D-A35D-08 TCGA-PR-A5PH-10B-01D-A35B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 02e189ce-0887-486f-98bc-09fa7cebb469 006fbf55-10ae-425b-bce6-2388efa68939 g.chr4:87701607A>G ENST00000436978.1 + 36 6439 c.5959A>G c.(5959-5961)Aag>Gag p.K1987E PTPN13_ENST00000411767.2_Missense_Mutation_p.K1982E|PTPN13_ENST00000511467.1_Missense_Mutation_p.K1987E|PTPN13_ENST00000316707.6_Missense_Mutation_p.K1791E|PTPN13_ENST00000427191.2_Missense_Mutation_p.K1963E NM_080683.2|NM_080685.2 NP_542414.1|NP_542416.1 Q12923 PTN13_HUMAN protein tyrosine phosphatase, non-receptor type 13 (APO-1/CD95 (Fas)-associated phosphatase) 1982 cytoplasm|cytoskeleton|plasma membrane protein binding|protein tyrosine phosphatase activity NS(4)|breast(3)|central_nervous_system(1)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(12)|large_intestine(23)|lung(24)|ovary(4)|prostate(3)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(2) 93 Hepatocellular(203;0.114)|all_hematologic(202;0.21)|Acute lymphoblastic leukemia(40;0.242) OV - Ovarian serous cystadenocarcinoma(123;0.00082) TTCAGCTCCAAAGTCAaccaa 0.403000 6 15 0 0 1 0 0 OR8J3 81168 broad.mit.edu 37 11 55904696 55904696 + Missense_Mutation SNP A A G TCGA-PR-A5PH-01A-11D-A35D-08 TCGA-PR-A5PH-10B-01D-A35B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 02e189ce-0887-486f-98bc-09fa7cebb469 006fbf55-10ae-425b-bce6-2388efa68939 g.chr11:55904696A>G ENST00000301529.1 - 1 498 c.499T>C c.(499-501)Tct>Cct p.S167P NM_001004064.1 NP_001004064.1 Q8NGG0 OR8J3_HUMAN olfactory receptor, family 8, subfamily J, member 3 167 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity NS(1)|breast(2)|central_nervous_system(1)|endometrium(5)|kidney(3)|large_intestine(1)|lung(38)|pancreas(1)|prostate(1)|skin(2)|stomach(3)|upper_aerodigestive_tract(1) 59 Esophageal squamous(21;0.00693) GAGCAATAAGACACAGAGAAT 0.413000 4 62 0 0 1 0 0 LMNA 4000 broad.mit.edu 37 1 156106111 156106111 + Nonsense_Mutation SNP G G T TCGA-PR-A5PH-01A-11D-A35D-08 TCGA-PR-A5PH-10B-01D-A35B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 02e189ce-0887-486f-98bc-09fa7cebb469 006fbf55-10ae-425b-bce6-2388efa68939 g.chr1:156106111G>T ENST00000368300.4 + 7 1476 c.1264G>T c.(1264-1266)Gag>Tag p.E422* LMNA_ENST00000473598.2_Nonsense_Mutation_p.E323*|LMNA_ENST00000496738.1_3'UTR|LMNA_ENST00000368297.1_Nonsense_Mutation_p.E341*|LMNA_ENST00000392353.3_Nonsense_Mutation_p.E341*|LMNA_ENST00000368299.3_Nonsense_Mutation_p.E422*|LMNA_ENST00000368301.2_Nonsense_Mutation_p.E422*|LMNA_ENST00000361308.4_Nonsense_Mutation_p.E422*|LMNA_ENST00000347559.2_Nonsense_Mutation_p.E422*|LMNA_ENST00000448611.2_Nonsense_Mutation_p.E310* NM_170707.3 NP_733821.1 P02545 LMNA_HUMAN lamin A/C 422 Tail. cellular component disassembly involved in apoptosis|cellular response to hypoxia|establishment or maintenance of microtubule cytoskeleton polarity|muscle organ development|positive regulation of cell aging|regulation of apoptosis|regulation of cell migration cytoplasm|lamin filament|nuclear envelope|perinuclear region of cytoplasm protein binding|structural molecule activity NS(1)|endometrium(1)|kidney(1)|lung(3)|ovary(4) 10 Hepatocellular(266;0.158) GCGCAAACTGGAGTCCACTGA 0.657000 Werner syndrome;Hutchinson-Gilford Progeria Syndrome 14 31 9.05144e-12 9.39957e-12 1 1 0 COL9A2 1298 broad.mit.edu 37 1 40768483 40768484 + Splice_Site INS - - GGAG rs3831927 by1000genomes TCGA-PR-A5PH-01A-11D-A35D-08 TCGA-PR-A5PH-10B-01D-A35B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 02e189ce-0887-486f-98bc-09fa7cebb469 006fbf55-10ae-425b-bce6-2388efa68939 g.chr1:40768483_40768484insGGAG ENST00000372748.3 - 30 1700 c.e30-2 COL9A2_ENST00000466267.1_Splice_Site NM_001852.3 NP_001843.1 Q14055 CO9A2_HUMAN collagen, type IX, alpha 2 axon guidance|skeletal system development collagen type IX endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(5)|ovary(4)|stomach(2)|urinary_tract(2) 22 Lung NSC(20;4.38e-06)|Ovarian(52;0.00167)|all_hematologic(146;0.0501)|Acute lymphoblastic leukemia(166;0.074) Myeloproliferative disorder(586;0.0255) OV - Ovarian serous cystadenocarcinoma(33;2.08e-17) CCAGTTGCTCTggagggaggga 0.649 3 3 --- --- --- --- FAM162B 221303 broad.mit.edu 37 6 117086577 117086577 + Frame_Shift_Del DEL G G - TCGA-PR-A5PH-01A-11D-A35D-08 TCGA-PR-A5PH-10B-01D-A35B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 02e189ce-0887-486f-98bc-09fa7cebb469 006fbf55-10ae-425b-bce6-2388efa68939 g.chr6:117086577delG ENST00000368557.4 - 1 309 c.163delC c.(163-165)aafs p.Q55fs NM_001085480.2 NP_001078949.1 Q5T6X4 F162B_HUMAN family with sequence similarity 162, member B 55 integral to membrane large_intestine(2)|lung(4) 6 CCGTGACCTTGGGGCCCAGAA 0.766 2 4 --- --- --- --- IGDCC4 57722 broad.mit.edu 37 15 65689295 65689295 + Frame_Shift_Del DEL G G - TCGA-PR-A5PH-01A-11D-A35D-08 TCGA-PR-A5PH-10B-01D-A35B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 02e189ce-0887-486f-98bc-09fa7cebb469 006fbf55-10ae-425b-bce6-2388efa68939 g.chr15:65689295delG ENST00000352385.2 - 6 1083 c.874delC c.(874-876)tgfs p.L292fs NM_020962.1 NP_066013.1 Q8TDY8 IGDC4_HUMAN immunoglobulin superfamily, DCC subclass, member 4 292 Ig-like C2-type 3. integral to membrane|plasma membrane NS(1)|central_nervous_system(1)|endometrium(1)|large_intestine(7)|lung(24)|ovary(1)|pancreas(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(3) 44 GTGCGGCCCAGGACGATGACA 0.652 2 4 --- --- --- ---