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 CDK19 23097 broad.mit.edu 37 6 110935826 110935826 + Missense_Mutation SNP G G A TCGA-MT-A51W-01A-21D-A25Y-08 TCGA-MT-A51W-10A-01D-A25Y-08 Untested Somatic Phase_I WXS none Illumina GAIIx 644ad1be-542b-4ddc-af21-4f091e53e576 ec0c9bb4-63cf-4fa4-88ad-db1b39a86312 g.chr6:110935826G>A ENST00000368911.3 - 13 1600 c.1421C>T c.(1420-1422)tCc>tTc p.S474F CDK19_ENST00000413605.2_Missense_Mutation_p.S350F|CDK19_ENST00000323817.3_Missense_Mutation_p.S414F NM_015076.3 NP_055891.1 Q9BWU1 CDK19_HUMAN cyclin-dependent kinase 19 474 Ser-rich. ATP binding|cyclin-dependent protein kinase activity|protein binding breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(5)|lung(9)|ovary(2)|prostate(2)|skin(1) 22 GGACTGAGAGGATCCCTGAAC 0.532000 12 37 0 0 1 0 0 MRPL23 6150 broad.mit.edu 37 11 1977596 1977596 + Missense_Mutation SNP G G C TCGA-MT-A51W-01A-21D-A25Y-08 TCGA-MT-A51W-10A-01D-A25Y-08 Untested Somatic Phase_I WXS none Illumina GAIIx 644ad1be-542b-4ddc-af21-4f091e53e576 ec0c9bb4-63cf-4fa4-88ad-db1b39a86312 g.chr11:1977596G>C ENST00000397298.3 + 5 493 c.408G>C c.(406-408)caG>caC p.Q136H MRPL23_ENST00000381514.3_Intron|MRPL23_ENST00000397294.3_Intron|MRPL23_ENST00000397297.3_Intron|MRPL23_ENST00000381519.1_Missense_Mutation_p.Q136H NM_021134.3 NP_066957.3 Q16540 RM23_HUMAN mitochondrial ribosomal protein L23 136 translation mitochondrial large ribosomal subunit nucleotide binding|RNA binding|structural constituent of ribosome large_intestine(2)|lung(1)|ovary(1) 4 all_epithelial(84;6.24e-05)|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;0.0026)|Lung(200;0.0171)|LUSC - Lung squamous cell carcinoma(625;0.0842) AGAGGCAGCAGAGGCAGAGCA 0.677000 6 65 0 0 1 0 0 SNTG1 54212 broad.mit.edu 37 8 51503438 51503438 + Splice_Site SNP G G C TCGA-MT-A51W-01A-21D-A25Y-08 TCGA-MT-A51W-10A-01D-A25Y-08 Untested Somatic Phase_I WXS none Illumina GAIIx 644ad1be-542b-4ddc-af21-4f091e53e576 ec0c9bb4-63cf-4fa4-88ad-db1b39a86312 g.chr8:51503438G>C ENST00000522124.1 + 13 1471 c.e13-1 SNTG1_ENST00000518864.1_Splice_Site|SNTG1_ENST00000517473.1_Splice_Site|SNTG1_ENST00000276467.5_Splice_Site NM_018967.2 NP_061840.1 Q9NSN8 SNTG1_HUMAN syntrophin, gamma 1 cell communication cytoplasm|cytoskeleton|nucleus|ruffle membrane|syntrophin complex actin binding|protein C-terminus binding NS(1)|breast(1)|endometrium(6)|kidney(3)|large_intestine(6)|lung(36)|ovary(6)|prostate(2)|skin(2)|upper_aerodigestive_tract(3) 66 all_cancers(86;0.00754)|all_epithelial(80;9.76e-05)|Lung NSC(129;0.000865)|all_lung(136;0.00249)|Colorectal(162;0.22) TATCATTGCAGATTAAAAAAA 0.269000 3 13 0 0 1 0 0 VPS13C 54832 broad.mit.edu 37 15 62257047 62257047 + Missense_Mutation SNP G G C TCGA-MT-A51W-01A-21D-A25Y-08 TCGA-MT-A51W-10A-01D-A25Y-08 Untested Somatic Phase_I WXS none Illumina GAIIx 644ad1be-542b-4ddc-af21-4f091e53e576 ec0c9bb4-63cf-4fa4-88ad-db1b39a86312 g.chr15:62257047G>C ENST00000261517.5 - 31 3138 c.3065C>G c.(3064-3066)tCt>tGt p.S1022C VPS13C_ENST00000249837.3_Missense_Mutation_p.S979C|VPS13C_ENST00000395896.4_Missense_Mutation_p.S1022C|VPS13C_ENST00000395898.3_Missense_Mutation_p.S979C NM_020821.2 NP_065872.1 Q709C8 VP13C_HUMAN vacuolar protein sorting 13 homolog C (S. cerevisiae) 1022 protein localization NS(3)|breast(4)|endometrium(4)|kidney(9)|large_intestine(26)|lung(46)|ovary(5)|prostate(6)|skin(6)|stomach(5)|upper_aerodigestive_tract(2)|urinary_tract(1) 117 CAGATTTAAAGATGAAAAGGC 0.378000 10 82 0 0 1 0 0 MTA3 57504 broad.mit.edu 37 2 42935134 42935134 + Silent SNP A A T TCGA-MT-A51W-01A-21D-A25Y-08 TCGA-MT-A51W-10A-01D-A25Y-08 Untested Somatic Phase_I WXS none Illumina GAIIx 644ad1be-542b-4ddc-af21-4f091e53e576 ec0c9bb4-63cf-4fa4-88ad-db1b39a86312 g.chr2:42935134A>T ENST00000405592.1 + 14 1741 c.1071A>T c.(1069-1071)ggA>ggT p.G357G MTA3_ENST00000407270.3_Silent_p.G414G|MTA3_ENST00000472767.1_3'UTR|MTA3_ENST00000406911.1_Silent_p.G413G|MTA3_ENST00000405094.1_Silent_p.G414G|MTA3_ENST00000406652.1_Silent_p.G357G Q9BTC8 MTA3_HUMAN metastasis associated 1 family, member 3 414 nucleus sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding endometrium(1)|large_intestine(2)|lung(9)|ovary(2)|stomach(1) 15 AAAAATATGGAGGCTTGAAAA 0.408000 9 57 0 0 1 0 0 ZNF616 90317 broad.mit.edu 37 19 52618995 52618995 + Silent SNP G G A TCGA-MT-A51W-01A-21D-A25Y-08 TCGA-MT-A51W-10A-01D-A25Y-08 Untested Somatic Phase_I WXS none Illumina GAIIx 644ad1be-542b-4ddc-af21-4f091e53e576 ec0c9bb4-63cf-4fa4-88ad-db1b39a86312 g.chr19:52618995G>A ENST00000600228.1 - 4 1683 c.1422C>T c.(1420-1422)ttC>ttT p.F474F ZNF616_ENST00000330123.5_3'UTR NM_178523.3 NP_848618.2 Q08AN1 ZN616_HUMAN zinc finger protein 616 474 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding breast(4)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(14)|lung(14)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1) 48 GBM - Glioblastoma multiforme(134;0.00392)|OV - Ovarian serous cystadenocarcinoma(262;0.0189) AATGTATGCTGAAAACTTTGC 0.413000 19 145 0 0 1 0 0 AHNAK 79026 broad.mit.edu 37 11 62290779 62290779 + Missense_Mutation SNP C C G TCGA-MT-A51W-01A-21D-A25Y-08 TCGA-MT-A51W-10A-01D-A25Y-08 Untested Somatic Phase_I WXS none Illumina GAIIx 644ad1be-542b-4ddc-af21-4f091e53e576 ec0c9bb4-63cf-4fa4-88ad-db1b39a86312 g.chr11:62290779C>G ENST00000378024.4 - 5 11384 c.11110G>C c.(11110-11112)Gag>Cag p.E3704Q AHNAK_ENST00000257247.7_Intron|AHNAK_ENST00000530124.1_Intron NM_001620.1 NP_001611.1 Q09666 AHNK_HUMAN AHNAK nucleoprotein 3704 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) ATGTCCACCTCAGGGCCTTTT 0.473000 20 231 0 0 1 0 0 LRP1B 53353 broad.mit.edu 37 2 141259405 141259405 + Missense_Mutation SNP C C A TCGA-MT-A51W-01A-21D-A25Y-08 TCGA-MT-A51W-10A-01D-A25Y-08 Untested Somatic Phase_I WXS none Illumina GAIIx 644ad1be-542b-4ddc-af21-4f091e53e576 ec0c9bb4-63cf-4fa4-88ad-db1b39a86312 g.chr2:141259405C>A ENST00000389484.3 - 55 9672 c.8701G>T c.(8701-8703)Ggc>Tgc p.G2901C NM_018557.2 NP_061027.2 Q9NZR2 LRP1B_HUMAN low density lipoprotein receptor-related protein 1B 2901 LDL-receptor class A 20. protein transport|receptor-mediated endocytosis integral to membrane calcium ion binding NS(5)|autonomic_ganglia(1)|biliary_tract(1)|breast(3)|central_nervous_system(7)|endometrium(25)|haematopoietic_and_lymphoid_tissue(10)|kidney(27)|large_intestine(98)|liver(4)|lung(337)|ovary(15)|pancreas(6)|prostate(11)|skin(30)|stomach(2)|upper_aerodigestive_tract(19)|urinary_tract(5) 606 all_cancers(3;1.1e-60)|all_epithelial(3;1.94e-59)|all_lung(3;1.09e-24)|Lung NSC(3;5.65e-24)|Esophageal squamous(3;5.41e-13)|Renal(3;0.000147)|Breast(3;0.000527)|Hepatocellular(3;0.011)|all_neural(3;0.014)|Colorectal(150;0.101) UCEC - Uterine corpus endometrioid carcinoma (2;0.00139)|Epithelial(1;1.25e-24)|all cancers(1;8.86e-24)|OV - Ovarian serous cystadenocarcinoma(1;2.45e-12)|LUSC - Lung squamous cell carcinoma(1;2.97e-10)|Lung(1;6.05e-09)|BRCA - Breast invasive adenocarcinoma(221;0.0103) ATGCACCTGCCATTTTTGCAC 0.373000 TSP Lung(27;0.18) 4 57 0.00024832 0.000257603 1 1 0 HERC1 8925 broad.mit.edu 37 15 64010891 64010891 + Missense_Mutation SNP T T C TCGA-MT-A51W-01A-21D-A25Y-08 TCGA-MT-A51W-10A-01D-A25Y-08 Untested Somatic Phase_I WXS none Illumina GAIIx 644ad1be-542b-4ddc-af21-4f091e53e576 ec0c9bb4-63cf-4fa4-88ad-db1b39a86312 g.chr15:64010891T>C ENST00000443617.2 - 21 3947 c.3860A>G c.(3859-3861)tAt>tGt p.Y1287C NM_003922.3 NP_003913.3 Q15751 HERC1_HUMAN HECT and RLD domain containing E3 ubiquitin protein ligase family member 1 1287 protein modification process|transport cytosol|Golgi apparatus|membrane acid-amino acid ligase activity|ARF guanyl-nucleotide exchange factor activity NS(3)|breast(9)|central_nervous_system(4)|endometrium(23)|haematopoietic_and_lymphoid_tissue(1)|kidney(12)|large_intestine(22)|liver(1)|lung(36)|ovary(7)|prostate(4)|skin(3)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(2) 132 ACCAGGTTGATATCTAAATGA 0.353000 7 35 0 0 1 0 0 NOS1 4842 broad.mit.edu 37 12 117710243 117710243 + Missense_Mutation SNP T T A TCGA-MT-A51W-01A-21D-A25Y-08 TCGA-MT-A51W-10A-01D-A25Y-08 Untested Somatic Phase_I WXS none Illumina GAIIx 644ad1be-542b-4ddc-af21-4f091e53e576 ec0c9bb4-63cf-4fa4-88ad-db1b39a86312 g.chr12:117710243T>A ENST00000317775.6 - 10 2471 c.1786A>T c.(1786-1788)Aca>Tca p.T596S NOS1_ENST00000344089.3_3'UTR|NOS1_ENST00000338101.4_Missense_Mutation_p.T596S NM_000620.4|NM_001204218.1 NP_000611.1|NP_001191147.1 P29475 NOS1_HUMAN nitric oxide synthase 1 (neuronal) 596 multicellular organismal response to stress|myoblast fusion|negative regulation of calcium ion transport into cytosol|neurotransmitter biosynthetic process|nitric oxide biosynthetic process|platelet activation|positive regulation of vasodilation|regulation of cardiac muscle contraction|response to heat|response to hypoxia cytoskeleton|cytosol|dendritic spine|perinuclear region of cytoplasm|photoreceptor inner segment|sarcolemma|sarcoplasmic reticulum arginine binding|cadmium ion binding|calmodulin binding|flavin adenine dinucleotide binding|FMN binding|heme binding|NADP binding|nitric-oxide synthase activity|tetrahydrobiopterin binding NS(1)|breast(1)|central_nervous_system(3)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(17)|large_intestine(21)|lung(43)|ovary(3)|pancreas(1)|prostate(6)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1) 117 all_neural(191;0.0804)|Medulloblastoma(191;0.0922) BRCA - Breast invasive adenocarcinoma(302;0.0561) L-Citrulline(DB00155) CCAATCTCTGTGCCCATGTAC 0.592000 13 57 0 0 1 0 0 WNK1 65125 broad.mit.edu 37 12 994643 994643 + Missense_Mutation SNP C C G TCGA-MT-A51W-01A-21D-A25Y-08 TCGA-MT-A51W-10A-01D-A25Y-08 Untested Somatic Phase_I WXS none Illumina GAIIx 644ad1be-542b-4ddc-af21-4f091e53e576 ec0c9bb4-63cf-4fa4-88ad-db1b39a86312 g.chr12:994643C>G ENST00000537687.1 + 19 6096 c.5453C>G c.(5452-5454)tCt>tGt p.S1818C WNK1_ENST00000530271.2_Missense_Mutation_p.S2056C|WNK1_ENST00000315939.6_Missense_Mutation_p.S1558C|WNK1_ENST00000535572.1_Missense_Mutation_p.S1311C|WNK1_ENST00000340908.4_Missense_Mutation_p.S1151C NM_001184985.1|NM_213655.4 NP_001171914.1|NP_998820.3 Q9H4A3 WNK1_HUMAN WNK lysine deficient protein kinase 1 1558 intracellular protein kinase cascade|ion transport|neuron development cytoplasm ATP binding|protein binding|protein kinase inhibitor activity|protein serine/threonine kinase activity breast(7)|central_nervous_system(1)|endometrium(3)|kidney(6)|large_intestine(15)|lung(43)|ovary(6)|prostate(3)|skin(7)|stomach(8)|upper_aerodigestive_tract(3)|urinary_tract(2) 104 all_cancers(10;0.00611)|all_epithelial(11;0.00825)|all_lung(10;0.0331)|Ovarian(42;0.0512)|Lung NSC(10;0.0632) Epithelial(1;1.74e-08)|all cancers(1;7.04e-08)|OV - Ovarian serous cystadenocarcinoma(31;0.000423)|BRCA - Breast invasive adenocarcinoma(9;0.0149)|Colorectal(1;0.0197) GCAGGAGTGTCTAGTTATATT 0.483000 89 409 0 0 1 0 0 ZNRD1-AS1 80862 broad.mit.edu 37 6 29977358 29977358 + RNA SNP T T C rs146982767 by1000genomes TCGA-MT-A51W-01A-21D-A25Y-08 TCGA-MT-A51W-10A-01D-A25Y-08 Untested Somatic Phase_I WXS none Illumina GAIIx 644ad1be-542b-4ddc-af21-4f091e53e576 ec0c9bb4-63cf-4fa4-88ad-db1b39a86312 g.chr6:29977358T>C ENST00000376797.3 - 0 731 HLA-J_ENST00000462773.1_RNA|ZNRD1-AS1_ENST00000420251.1_RNA|ZNRD1-AS1_ENST00000448093.1_RNA|ZNRD1-AS1_ENST00000425604.1_RNA GATTTGTTCATGCCTTCCCTT 0.448000 6 45 0 0 1 0 0 GNAS 2778 broad.mit.edu 37 20 57429935 57429935 + Missense_Mutation SNP G G A TCGA-MT-A51W-01A-21D-A25Y-08 TCGA-MT-A51W-10A-01D-A25Y-08 Untested Somatic Phase_I WXS none Illumina GAIIx 644ad1be-542b-4ddc-af21-4f091e53e576 ec0c9bb4-63cf-4fa4-88ad-db1b39a86312 g.chr20:57429935G>A ENST00000371100.4 + 1 2167 c.1615G>A c.(1615-1617)Gat>Aat p.D539N GNAS_ENST00000371098.2_Intron|GNAS_ENST00000371099.2_Missense_Mutation_p.D539N|GNAS_ENST00000371102.4_Missense_Mutation_p.D539N|GNAS_ENST00000464624.2_3'UTR|GNAS_ENST00000313949.7_Intron|GNAS_ENST00000371075.3_Intron|GNAS_ENST00000603534.1_Intron|GNAS_ENST00000306120.3_Silent_p.P475P NM_001077490.1|NM_080425.2 NP_001070958.1|NP_536350.2 P63092 GNAS2_HUMAN GNAS complex locus 0 activation of adenylate cyclase activity|cellular response to glucagon stimulus|energy reserve metabolic process|G-protein coupled receptor protein signaling pathway|intracellular transport|platelet activation|regulation of insulin secretion|sensory perception of smell|transmembrane transport|water transport heterotrimeric G-protein complex|intrinsic to membrane|trans-Golgi network membrane adenylate cyclase activity|GTP binding|GTPase activity|guanyl-nucleotide exchange factor activity|identical protein binding|signal transducer activity adrenal_gland(12)|autonomic_ganglia(1)|biliary_tract(5)|central_nervous_system(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(4)|kidney(7)|large_intestine(37)|liver(9)|lung(9)|ovary(16)|pancreas(56)|parathyroid(5)|pituitary(228)|prostate(2)|small_intestine(1)|stomach(1)|testis(2)|thyroid(35)|upper_aerodigestive_tract(3)|urinary_tract(1) 441 all_lung(29;0.0104) BRCA - Breast invasive adenocarcinoma(13;2.19e-08)|Colorectal(105;0.109) CCAGGCTGCCGATCCGCCTAC 0.726000 Mis pituitary adenoma """McCune-Albright syndrome; pseudohypoparathyroidism, type IA""" TSP Lung(22;0.16) 3 7 0 0 1 0 0 RP11-252A24.2 0 broad.mit.edu 37 16 74372644 74372644 + RNA SNP A A G TCGA-MT-A51W-01A-21D-A25Y-08 TCGA-MT-A51W-10A-01D-A25Y-08 Untested Somatic Phase_I WXS none Illumina GAIIx 644ad1be-542b-4ddc-af21-4f091e53e576 ec0c9bb4-63cf-4fa4-88ad-db1b39a86312 g.chr16:74372644A>G ENST00000429810.2 - 0 1552 TACCCTTGTCAGGGGGAACAA 0.443000 5 43 0 0 1 0 0 SLITRK3 22865 broad.mit.edu 37 3 164908105 164908105 + Silent SNP G G A TCGA-MT-A51W-01A-21D-A25Y-08 TCGA-MT-A51W-10A-01D-A25Y-08 Untested Somatic Phase_I WXS none Illumina GAIIx 644ad1be-542b-4ddc-af21-4f091e53e576 ec0c9bb4-63cf-4fa4-88ad-db1b39a86312 g.chr3:164908105G>A ENST00000475390.1 - 2 957 c.514C>T c.(514-516)Cta>Tta p.L172L SLITRK3_ENST00000241274.3_Silent_p.L172L O94933 SLIK3_HUMAN SLIT and NTRK-like family, member 3 172 integral to membrane NS(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(14)|lung(66)|ovary(6)|pancreas(1)|prostate(4)|skin(5)|upper_aerodigestive_tract(5) 119 AATTTACTTAGGTTCCGAAAT 0.398000 HNSCC(40;0.11) 21 68 0 0 1 0 0 SPHK2 56848 broad.mit.edu 37 19 49129133 49129133 + Missense_Mutation SNP C C T rs76628003 by1000genomes TCGA-MT-A51W-01A-21D-A25Y-08 TCGA-MT-A51W-10A-01D-A25Y-08 Untested Somatic Phase_I WXS none Illumina GAIIx 644ad1be-542b-4ddc-af21-4f091e53e576 ec0c9bb4-63cf-4fa4-88ad-db1b39a86312 g.chr19:49129133C>T ENST00000443164.1 + 1 916 c.211C>T c.(211-213)Cct>Tct p.P71S SPHK2_ENST00000245222.4_Intron|SPHK2_ENST00000601712.1_Intron|SPHK2_ENST00000600537.1_Intron|SPHK2_ENST00000340932.3_Intron|SPHK2_ENST00000599748.1_Intron|SPHK2_ENST00000599029.1_5'UTR|SPHK2_ENST00000599033.1_Intron|SPHK2_ENST00000598088.1_Intron Q9NRA0 SPHK2_HUMAN sphingosine kinase 2 451 Required for binding to sulfatide and phosphoinositides and for membrane localization. activation of protein kinase C activity by G-protein coupled receptor protein signaling pathway|anti-apoptosis|cell proliferation|sphinganine-1-phosphate biosynthetic process cytosol|lysosomal membrane|membrane fraction ATP binding|D-erythro-sphingosine kinase activity|diacylglycerol kinase activity|Ras GTPase binding|sphinganine kinase activity NS(1)|central_nervous_system(2)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(1)|lung(4)|prostate(2)|upper_aerodigestive_tract(2)|urinary_tract(2) 19 all_lung(116;0.000125)|Lung NSC(112;0.000202)|all_epithelial(76;0.000283)|all_neural(266;0.0506)|Ovarian(192;0.113) OV - Ovarian serous cystadenocarcinoma(262;0.000102)|all cancers(93;0.000117)|GBM - Glioblastoma multiforme(486;0.00627)|Epithelial(262;0.0158) CCCCTTCTCTCCTCCCTTCCC 0.677000 4 16 0 0 1 0 0 PLCE1 51196 broad.mit.edu 37 10 96012146 96012146 + Missense_Mutation SNP G G A TCGA-MT-A51W-01A-21D-A25Y-08 TCGA-MT-A51W-10A-01D-A25Y-08 Untested Somatic Phase_I WXS none Illumina GAIIx 644ad1be-542b-4ddc-af21-4f091e53e576 ec0c9bb4-63cf-4fa4-88ad-db1b39a86312 g.chr10:96012146G>A ENST00000260766.3 + 9 3804 c.3170G>A c.(3169-3171)cGa>cAa p.R1057Q PLCE1_ENST00000371380.2_Missense_Mutation_p.R1057Q|PLCE1_ENST00000371385.3_Missense_Mutation_p.R749Q|PLCE1_ENST00000371375.1_Missense_Mutation_p.R749Q NM_016341.3 NP_057425.3 Q9P212 PLCE1_HUMAN phospholipase C, epsilon 1 1057 activation of MAPK activity|activation of phospholipase C activity by G-protein coupled receptor protein signaling pathway coupled to IP3 second messenger|activation of protein kinase C activity by G-protein coupled receptor protein signaling pathway|calcium-mediated signaling|cell proliferation|cytoskeleton organization|diacylglycerol biosynthetic process|elevation of cytosolic calcium ion concentration|epidermal growth factor receptor signaling pathway|glomerulus development|heart development|lipid catabolic process|Ras protein signal transduction|regulation of cell growth|regulation of G-protein coupled receptor protein signaling pathway|regulation of Ras protein signal transduction|regulation of smooth muscle contraction cytosol|Golgi membrane|membrane fraction|plasma membrane calcium ion binding|guanyl-nucleotide exchange factor activity|phosphatidylinositol phospholipase C activity|Ras GTPase binding|receptor signaling protein activity liver(1)|ovary(2)|skin(4)|upper_aerodigestive_tract(1) 8 Colorectal(252;0.0458) TGGAGTGCTCGAAACCCCAGC 0.502000 6 48 0 0 1 0 0 ENTPD3 956 broad.mit.edu 37 3 40457421 40457421 + Missense_Mutation SNP G G A rs144633113 byFrequency TCGA-MT-A51W-01A-21D-A25Y-08 TCGA-MT-A51W-10A-01D-A25Y-08 Untested Somatic Phase_I WXS none Illumina GAIIx 644ad1be-542b-4ddc-af21-4f091e53e576 ec0c9bb4-63cf-4fa4-88ad-db1b39a86312 g.chr3:40457421G>A ENST00000301825.3 + 7 806 c.688G>A c.(688-690)Gtg>Atg p.V230M ENTPD3-AS1_ENST00000439293.1_RNA|ENTPD3_ENST00000445129.1_Missense_Mutation_p.V230M|ENTPD3-AS1_ENST00000425156.1_RNA|ENTPD3_ENST00000456402.1_Missense_Mutation_p.V230M|ENTPD3-AS1_ENST00000452768.1_RNA NM_001248.2 NP_001239.2 O75355 ENTP3_HUMAN ectonucleoside triphosphate diphosphohydrolase 3 230 integral to membrane ATP binding|hydrolase activity endometrium(1)|kidney(3)|large_intestine(5)|lung(4)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 18 KIRC - Kidney renal clear cell carcinoma(284;0.0605)|Kidney(284;0.0758) AATATCCTTCGTGGCAGGAGA 0.552000 3 27 0 0 1 0 0 FLT4 2324 broad.mit.edu 37 5 180048764 180048764 + Missense_Mutation SNP C C T TCGA-MT-A51W-01A-21D-A25Y-08 TCGA-MT-A51W-10A-01D-A25Y-08 Untested Somatic Phase_I WXS none Illumina GAIIx 644ad1be-542b-4ddc-af21-4f091e53e576 ec0c9bb4-63cf-4fa4-88ad-db1b39a86312 g.chr5:180048764C>T ENST00000261937.6 - 13 1876 c.1798G>A c.(1798-1800)Gat>Aat p.D600N FLT4_ENST00000424276.2_5'UTR|FLT4_ENST00000393347.3_Missense_Mutation_p.D600N|FLT4_ENST00000502649.1_Missense_Mutation_p.D600N NM_182925.4 NP_891555.2 P35916 VGFR3_HUMAN fms-related tyrosine kinase 4 600 Ig-like C2-type 6. positive regulation of cell proliferation integral to plasma membrane ATP binding|protein phosphatase binding|vascular endothelial growth factor receptor activity NS(1)|breast(3)|central_nervous_system(2)|endometrium(1)|kidney(6)|large_intestine(5)|liver(2)|lung(37)|ovary(6)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 71 all_cancers(89;2.21e-05)|all_epithelial(37;5.29e-06)|Renal(175;0.000159)|Lung NSC(126;0.00199)|all_lung(126;0.00351)|Breast(19;0.114) all_cancers(40;0.00245)|Medulloblastoma(196;0.0133)|all_neural(177;0.0199)|all_hematologic(541;0.163)|Ovarian(839;0.238) Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178) all cancers(165;0.134) Sorafenib(DB00398)|Sunitinib(DB01268) CCGTGCGCATCGTGCAGCGTG 0.657000 30 55 0 0 1 0 0 C3orf30 152405 broad.mit.edu 37 3 118865597 118865597 + Missense_Mutation SNP G G C TCGA-MT-A51W-01A-21D-A25Y-08 TCGA-MT-A51W-10A-01D-A25Y-08 Untested Somatic Phase_I WXS none Illumina GAIIx 644ad1be-542b-4ddc-af21-4f091e53e576 ec0c9bb4-63cf-4fa4-88ad-db1b39a86312 g.chr3:118865597G>C ENST00000295622.1 + 1 601 c.561G>C c.(559-561)gaG>gaC p.E187D NM_152539.2 NP_689752.2 Q96M34 CC030_HUMAN chromosome 3 open reading frame 30 187 NS(1)|breast(1)|cervix(1)|endometrium(1)|large_intestine(6)|lung(20)|ovary(2)|prostate(1)|urinary_tract(1) 34 GBM - Glioblastoma multiforme(114;0.222) GCCAGTCTGAGAGAAGAGCTT 0.507000 17 81 0 0 1 0 0 ZNF705B 100132396 broad.mit.edu 37 8 7808219 7808219 + Missense_Mutation SNP A A T TCGA-MT-A51W-01A-21D-A25Y-08 TCGA-MT-A51W-10A-01D-A25Y-08 Untested Somatic Phase_I WXS none Illumina GAIIx 644ad1be-542b-4ddc-af21-4f091e53e576 ec0c9bb4-63cf-4fa4-88ad-db1b39a86312 g.chr8:7808219A>T ENST00000443676.1 + 5 384 c.268A>T c.(268-270)Ata>Tta p.I90L ZNF705B_ENST00000400120.3_Missense_Mutation_p.I90L P0CI00 Z705L_HUMAN zinc finger protein 705B 90 regulation of transcription, DNA-dependent intracellular nucleic acid binding|zinc ion binding p.I90L(4) kidney(2)|lung(2) 4 AAAACACATGATATCCATGCA 0.328000 6 44 0 0 1 0 0 PTPRE 5791 broad.mit.edu 37 10 129866487 129866487 + Missense_Mutation SNP A A T TCGA-MT-A51W-01A-21D-A25Y-08 TCGA-MT-A51W-10A-01D-A25Y-08 Untested Somatic Phase_I WXS none Illumina GAIIx 644ad1be-542b-4ddc-af21-4f091e53e576 ec0c9bb4-63cf-4fa4-88ad-db1b39a86312 g.chr10:129866487A>T ENST00000254667.3 + 12 1223 c.944A>T c.(943-945)aAg>aTg p.K315M PTPRE_ENST00000419012.2_Missense_Mutation_p.K315M|PTPRE_ENST00000306042.5_Missense_Mutation_p.K257M NM_006504.4 NP_006495.1 P23469 PTPRE_HUMAN protein tyrosine phosphatase, receptor type, E 315 Tyrosine-protein phosphatase 1. negative regulation of insulin receptor signaling pathway|protein phosphorylation cytoplasm|integral to membrane|intermediate filament cytoskeleton|nucleus|plasma membrane transmembrane receptor protein tyrosine phosphatase activity endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(5)|lung(4)|ovary(1)|prostate(2)|skin(2)|stomach(1)|urinary_tract(1) 22 all_epithelial(44;1.66e-05)|all_lung(145;0.00456)|Lung NSC(174;0.0066)|all_neural(114;0.0936)|Colorectal(57;0.141)|Breast(234;0.166)|Melanoma(40;0.203) GGGATGCTGAAGTTCCTCAAG 0.632000 11 56 0 0 1 0 0 OTOF 9381 broad.mit.edu 37 2 26739314 26739314 + Missense_Mutation SNP G G A TCGA-MT-A51W-01A-21D-A25Y-08 TCGA-MT-A51W-10A-01D-A25Y-08 Untested Somatic Phase_I WXS none Illumina GAIIx 644ad1be-542b-4ddc-af21-4f091e53e576 ec0c9bb4-63cf-4fa4-88ad-db1b39a86312 g.chr2:26739314G>A ENST00000272371.2 - 5 607 c.481C>T c.(481-483)Cgg>Tgg p.R161W OTOF_ENST00000403946.3_Missense_Mutation_p.R161W NM_194248.2 NP_919224.1 Q9HC10 OTOF_HUMAN otoferlin 161 cellular membrane fusion|sensory perception of sound|synaptic vesicle exocytosis basolateral plasma membrane|cell junction|cytosol|endoplasmic reticulum membrane|integral to membrane|membrane fraction|synaptic vesicle membrane calcium ion binding NS(1)|autonomic_ganglia(1)|breast(9)|central_nervous_system(4)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(14)|lung(35)|ovary(8)|pancreas(1)|prostate(5)|skin(5)|stomach(4)|upper_aerodigestive_tract(3)|urinary_tract(1) 106 Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215) CCTGGGGGCCGGGAGCTGGGC 0.637000 12 124 0 0 1 0 0 ZNF175 7728 broad.mit.edu 37 19 52076481 52076481 + Translation_Start_Site SNP C C A rs2305371 by1000genomes TCGA-MT-A51W-01A-21D-A25Y-08 TCGA-MT-A51W-10A-01D-A25Y-08 Untested Somatic Phase_I WXS none Illumina GAIIx 644ad1be-542b-4ddc-af21-4f091e53e576 ec0c9bb4-63cf-4fa4-88ad-db1b39a86312 g.chr19:52076481C>A ENST00000262259.2 + 0 257 ZNF175_ENST00000545217.1_De_novo_Start_OutOfFrame|ZNF175_ENST00000596504.1_De_novo_Start_OutOfFrame NM_007147.2 NP_009078.1 Q9Y473 ZN175_HUMAN zinc finger protein 175 response to virus cytoplasm|intermediate filament cytoskeleton|nucleus DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding NS(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(7)|lung(6)|prostate(1)|skin(2)|upper_aerodigestive_tract(1) 24 all_neural(266;0.0299) GBM - Glioblastoma multiforme(134;0.000426)|OV - Ovarian serous cystadenocarcinoma(262;0.0257) GACTCTCCGCCGTGTCCCTGG 0.527000 5 64 1.23904e-05 1.32244e-05 1 1 0 PCDHB5 26167 broad.mit.edu 37 5 140515776 140515776 + Missense_Mutation SNP A A T TCGA-MT-A51W-01A-21D-A25Y-08 TCGA-MT-A51W-10A-01D-A25Y-08 Untested Somatic Phase_I WXS none Illumina GAIIx 644ad1be-542b-4ddc-af21-4f091e53e576 ec0c9bb4-63cf-4fa4-88ad-db1b39a86312 g.chr5:140515776A>T ENST00000231134.5 + 1 977 c.760A>T c.(760-762)Aac>Tac p.N254Y NM_015669.2 NP_056484.1 Q9Y5E4 PCDB5_HUMAN 254 Cadherin 3. calcium-dependent cell-cell adhesion|homophilic cell adhesion|synapse assembly|synaptic transmission integral to membrane|plasma membrane calcium ion binding|protein binding breast(2)|central_nervous_system(1)|cervix(1)|endometrium(12)|kidney(1)|large_intestine(18)|lung(25)|ovary(3)|prostate(6)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(2) 81 KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339) GGTGCCCGAGAACAGCCCCCT 0.493000 103 223 0 0 1 0 0 PNPT1 87178 broad.mit.edu 37 2 55873415 55873415 + Missense_Mutation SNP C C G TCGA-MT-A51W-01A-21D-A25Y-08 TCGA-MT-A51W-10A-01D-A25Y-08 Untested Somatic Phase_I WXS none Illumina GAIIx 644ad1be-542b-4ddc-af21-4f091e53e576 ec0c9bb4-63cf-4fa4-88ad-db1b39a86312 g.chr2:55873415C>G ENST00000447944.2 - 21 1803 c.1717G>C c.(1717-1719)Gag>Cag p.E573Q NM_033109.3 NP_149100.2 Q8TCS8 PNPT1_HUMAN polyribonucleotide nucleotidyltransferase 1 573 mRNA catabolic process|RNA processing plasma membrane 3'-5'-exoribonuclease activity|polyribonucleotide nucleotidyltransferase activity|RNA binding cervix(1)|endometrium(3)|kidney(1)|large_intestine(10)|lung(9)|skin(2)|urinary_tract(1) 27 LUSC - Lung squamous cell carcinoma(58;0.127)|Lung(47;0.132) TGAATAGCCTCCATCACAATT 0.323000 10 48 0 0 1 0 0 C16orf58 64755 broad.mit.edu 37 16 31504971 31504971 + Missense_Mutation SNP T T A TCGA-MT-A51W-01A-21D-A25Y-08 TCGA-MT-A51W-10A-01D-A25Y-08 Untested Somatic Phase_I WXS none Illumina GAIIx 644ad1be-542b-4ddc-af21-4f091e53e576 ec0c9bb4-63cf-4fa4-88ad-db1b39a86312 g.chr16:31504971T>A ENST00000327237.2 - 8 950 c.911A>T c.(910-912)gAg>gTg p.E304V C16orf58_ENST00000567994.1_Missense_Mutation_p.E259V|C16orf58_ENST00000430477.2_Missense_Mutation_p.E162V|C16orf58_ENST00000570164.1_Missense_Mutation_p.E302V Q96GQ5 CP058_HUMAN chromosome 16 open reading frame 58 304 integral to membrane breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(4)|ovary(1) 14 GTCGAGTACCTCTCCCCTCTG 0.627000 5 56 0 0 1 0 0 UBE3C 9690 broad.mit.edu 37 7 156979548 156979548 + Silent SNP A A G TCGA-MT-A51W-01A-21D-A25Y-08 TCGA-MT-A51W-10A-01D-A25Y-08 Untested Somatic Phase_I WXS none Illumina GAIIx 644ad1be-542b-4ddc-af21-4f091e53e576 ec0c9bb4-63cf-4fa4-88ad-db1b39a86312 g.chr7:156979548A>G ENST00000348165.5 + 10 1524 c.1164A>G c.(1162-1164)gtA>gtG p.V388V UBE3C_ENST00000389103.4_Silent_p.V345V NM_014671.2 NP_055486.2 Q15386 UBE3C_HUMAN ubiquitin protein ligase E3C 388 protein polyubiquitination|protein ubiquitination involved in ubiquitin-dependent protein catabolic process nucleus|proteasome complex protein binding|ubiquitin-protein ligase activity central_nervous_system(2)|endometrium(3)|kidney(16)|large_intestine(13)|lung(25)|ovary(2)|prostate(1)|urinary_tract(1) 63 all_hematologic(28;0.0185)|all_epithelial(9;0.0664) OV - Ovarian serous cystadenocarcinoma(82;0.00448) UCEC - Uterine corpus endometrioid carcinoma (81;0.19) GACTGTCAGTATCATACATAA 0.483000 6 23 0 0 1 0 0 HIST1H2BD 3017 broad.mit.edu 37 6 26158602 26158602 + Missense_Mutation SNP G G C TCGA-MT-A51W-01A-21D-A25Y-08 TCGA-MT-A51W-10A-01D-A25Y-08 Untested Somatic Phase_I WXS none Illumina GAIIx 644ad1be-542b-4ddc-af21-4f091e53e576 ec0c9bb4-63cf-4fa4-88ad-db1b39a86312 g.chr6:26158602G>C ENST00000289316.2 + 1 229 c.205G>C c.(205-207)Gac>Cac p.D69H HIST1H2BD_ENST00000377777.4_Missense_Mutation_p.D69H NM_138720.2 NP_619790.1 P58876 H2B1D_HUMAN histone cluster 1, H2bd 69 nucleosome assembly nucleosome|nucleus DNA binding breast(2)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(2)|lung(6)|ovary(2)|pancreas(1)|prostate(1)|skin(1) 24 CTTCGTCAACGACATCTTCGA 0.577000 11 184 0 0 1 0 0 SI 6476 broad.mit.edu 37 3 164735605 164735605 + Missense_Mutation SNP C C G TCGA-MT-A51W-01A-21D-A25Y-08 TCGA-MT-A51W-10A-01D-A25Y-08 Untested Somatic Phase_I WXS none Illumina GAIIx 644ad1be-542b-4ddc-af21-4f091e53e576 ec0c9bb4-63cf-4fa4-88ad-db1b39a86312 g.chr3:164735605C>G ENST00000264382.3 - 30 3639 c.3577G>C c.(3577-3579)Gat>Cat p.D1193H NM_001041.3 NP_001032.2 P14410 SUIS_HUMAN sucrase-isomaltase (alpha-glucosidase) 1193 Sucrase. carbohydrate metabolic process|polysaccharide digestion apical plasma membrane|brush border|Golgi apparatus|integral to membrane carbohydrate binding|oligo-1,6-glucosidase activity|sucrose alpha-glucosidase activity p.D1193N(1) NS(4)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(6)|kidney(10)|large_intestine(18)|lung(124)|ovary(9)|pancreas(1)|prostate(6)|skin(6)|upper_aerodigestive_tract(16)|urinary_tract(1) 218 Prostate(884;0.00314)|Melanoma(1037;0.0153)|all_neural(597;0.0199) Acarbose(DB00284) ATATAAAAATCCAAGATCCCT 0.333000 HNSCC(35;0.089) 6 66 0 0 1 0 0 ZNRD1-AS1 80862 broad.mit.edu 37 6 29977359 29977359 + RNA SNP G G A rs3831361 by1000genomes TCGA-MT-A51W-01A-21D-A25Y-08 TCGA-MT-A51W-10A-01D-A25Y-08 Untested Somatic Phase_I WXS none Illumina GAIIx 644ad1be-542b-4ddc-af21-4f091e53e576 ec0c9bb4-63cf-4fa4-88ad-db1b39a86312 g.chr6:29977359G>A ENST00000376797.3 - 0 731 HLA-J_ENST00000462773.1_RNA|ZNRD1-AS1_ENST00000420251.1_RNA|ZNRD1-AS1_ENST00000448093.1_RNA|ZNRD1-AS1_ENST00000425604.1_RNA ATTTGTTCATGCCTTCCCTTT 0.453000 4 45 0 0 1 0 0 SGIP1 84251 broad.mit.edu 37 1 67185026 67185026 + Silent SNP C C G TCGA-MT-A51W-01A-21D-A25Y-08 TCGA-MT-A51W-10A-01D-A25Y-08 Untested Somatic Phase_I WXS none Illumina GAIIx 644ad1be-542b-4ddc-af21-4f091e53e576 ec0c9bb4-63cf-4fa4-88ad-db1b39a86312 g.chr1:67185026C>G ENST00000371037.4 + 19 1757 c.1680C>G c.(1678-1680)ctC>ctG p.L560L SGIP1_ENST00000371035.3_Silent_p.L350L|SGIP1_ENST00000371036.3_Silent_p.L362L|SGIP1_ENST00000371039.1_Silent_p.L363L|SGIP1_ENST00000237247.6_Silent_p.L591L|SGIP1_ENST00000435165.2_Silent_p.L65L NM_032291.2 NP_115667.2 Q9BQI5 SGIP1_HUMAN SH3-domain GRB2-like (endophilin) interacting protein 1 560 positive regulation of energy homeostasis|positive regulation of feeding behavior|positive regulation of receptor-mediated endocytosis|response to dietary excess AP-2 adaptor complex microtubule binding|phospholipid binding|SH3 domain binding breast(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(6)|lung(43)|ovary(4)|pancreas(1)|prostate(1)|skin(3)|stomach(1) 71 AGGACACTCTCCCTGTTGCAG 0.438000 6 38 0 0 1 0 0 CCDC180 100499483 broad.mit.edu 37 9 100122338 100122338 + Silent SNP T T C TCGA-MT-A51W-01A-21D-A25Y-08 TCGA-MT-A51W-10A-01D-A25Y-08 Untested Somatic Phase_I WXS none Illumina GAIIx 644ad1be-542b-4ddc-af21-4f091e53e576 ec0c9bb4-63cf-4fa4-88ad-db1b39a86312 g.chr9:100122338T>C ENST00000375202.2 + 40 4922 c.3570T>C c.(3568-3570)ctT>ctC p.L1190L CCDC180_ENST00000357054.1_Silent_p.L1161L|CCDC180_ENST00000529487.1_Silent_p.L1190L|CCDC180_ENST00000395220.1_3'UTR|RP11-23J9.4_ENST00000534123.1_RNA coiled-coil domain containing 180 TTCAGTACCTTAACTGCAGCC 0.517000 29 223 0 0 1 0 0 CBLL1 79872 broad.mit.edu 37 7 107399511 107399511 + Missense_Mutation SNP C C A TCGA-MT-A51W-01A-21D-A25Y-08 TCGA-MT-A51W-10A-01D-A25Y-08 Untested Somatic Phase_I WXS none Illumina GAIIx 644ad1be-542b-4ddc-af21-4f091e53e576 ec0c9bb4-63cf-4fa4-88ad-db1b39a86312 g.chr7:107399511C>A ENST00000440859.2 + 6 1831 c.1364C>A c.(1363-1365)cCt>cAt p.P455H CBLL1_ENST00000222597.2_Missense_Mutation_p.P454H NM_024814.2 NP_079090.2 Q75N03 HAKAI_HUMAN Cbl proto-oncogene-like 1, E3 ubiquitin protein ligase 455 Pro-rich. cell-cell adhesion|negative regulation of cell adhesion|positive regulation of cell migration|positive regulation of endocytosis protein binding|ubiquitin-protein ligase activity|zinc ion binding endometrium(2)|large_intestine(2)|lung(9)|ovary(2)|prostate(3)|skin(3) 21 GGTATATGGCCTGCACCAAGA 0.512000 55 124 9.52127e-25 1.06754e-24 1 1 0 PARP1 142 broad.mit.edu 37 1 226567780 226567780 + Silent SNP G G C TCGA-MT-A51W-01A-21D-A25Y-08 TCGA-MT-A51W-10A-01D-A25Y-08 Untested Somatic Phase_I WXS none Illumina GAIIx 644ad1be-542b-4ddc-af21-4f091e53e576 ec0c9bb4-63cf-4fa4-88ad-db1b39a86312 g.chr1:226567780G>C ENST00000366794.5 - 10 1529 c.1386C>G c.(1384-1386)gtC>gtG p.V462V NM_001618.3 NP_001609.2 P09874 PARP1_HUMAN poly (ADP-ribose) polymerase 1 462 Automodification domain.|BRCT. cellular response to insulin stimulus|protein ADP-ribosylation|regulation of transcription, DNA-dependent|transcription from RNA polymerase II promoter nuclear envelope|nucleolus|transcription factor complex DNA binding|identical protein binding|NAD+ ADP-ribosyltransferase activity|protein N-terminus binding|transcription factor binding|zinc ion binding breast(2)|endometrium(4)|kidney(4)|large_intestine(8)|lung(15)|ovary(3)|prostate(2)|skin(4)|upper_aerodigestive_tract(2) 44 Breast(184;0.133) GBM - Glioblastoma multiforme(131;0.0531) TGGAGGCGGAGACGTCCTGGA 0.512000 Poly(ADP-ribose) polymerase (PARP) enzymes that bind to DNA 6 42 0 0 1 0 0 CEACAM6 4680 broad.mit.edu 37 19 42260722 42260722 + Silent SNP C C A TCGA-MT-A51W-01A-21D-A25Y-08 TCGA-MT-A51W-10A-01D-A25Y-08 Untested Somatic Phase_I WXS none Illumina GAIIx 644ad1be-542b-4ddc-af21-4f091e53e576 ec0c9bb4-63cf-4fa4-88ad-db1b39a86312 g.chr19:42260722C>A ENST00000199764.6 + 2 497 c.279C>A c.(277-279)ccC>ccA p.P93P CEA_ENST00000598976.1_Intron NM_002483.4 NP_002474.3 P40199 CEAM6_HUMAN carcinoembryonic antigen-related cell adhesion molecule 6 (non-specific cross reacting antigen) 93 Ig-like V-type. cell-cell signaling|signal transduction anchored to membrane|integral to plasma membrane breast(1)|kidney(4)|large_intestine(1)|lung(4)|ovary(2)|prostate(2)|skin(2)|stomach(1)|urinary_tract(1) 18 OV - Ovarian serous cystadenocarcinoma(3;0.00575)|all cancers(3;0.0352)|Epithelial(262;0.0797) CCCCAGGGCCCGCATACAGTG 0.458000 23 251 5.26018e-13 5.78099e-13 1 1 0 CNTNAP3B 728577 broad.mit.edu 37 9 43915893 43915893 + Missense_Mutation SNP G G C rs143747399 by1000genomes TCGA-MT-A51W-01A-21D-A25Y-08 TCGA-MT-A51W-10A-01D-A25Y-08 Untested Somatic Phase_I WXS none Illumina GAIIx 644ad1be-542b-4ddc-af21-4f091e53e576 ec0c9bb4-63cf-4fa4-88ad-db1b39a86312 g.chr9:43915893G>C ENST00000377564.3 + 23 4134 c.3741G>C c.(3739-3741)atG>atC p.M1247I NM_001201380.1 NP_001188309.1 Q96NU0 CNT3B_HUMAN contactin associated protein-like 3B 1247 cell adhesion|signal transduction integral to membrane receptor binding central_nervous_system(1)|endometrium(2)|lung(3)|pancreas(1)|prostate(3) 10 CTGCTGTCATGGGAGGTAACA 0.433000 4 27 0 0 1 0 0 AHNAK 79026 broad.mit.edu 37 11 62299999 62299999 + Missense_Mutation SNP C C G TCGA-MT-A51W-01A-21D-A25Y-08 TCGA-MT-A51W-10A-01D-A25Y-08 Untested Somatic Phase_I WXS none Illumina GAIIx 644ad1be-542b-4ddc-af21-4f091e53e576 ec0c9bb4-63cf-4fa4-88ad-db1b39a86312 g.chr11:62299999C>G ENST00000378024.4 - 5 2164 c.1890G>C c.(1888-1890)aaG>aaC p.K630N AHNAK_ENST00000257247.7_Intron|AHNAK_ENST00000530124.1_Intron NM_001620.1 NP_001611.1 Q09666 AHNK_HUMAN AHNAK nucleoprotein 630 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) GCATTTTCATCTTGGGCATTT 0.507000 12 139 0 0 1 0 0 TXK 7294 broad.mit.edu 37 4 48088525 48088525 + Missense_Mutation SNP G G C TCGA-MT-A51W-01A-21D-A25Y-08 TCGA-MT-A51W-10A-01D-A25Y-08 Untested Somatic Phase_I WXS none Illumina GAIIx 644ad1be-542b-4ddc-af21-4f091e53e576 ec0c9bb4-63cf-4fa4-88ad-db1b39a86312 g.chr4:48088525G>C ENST00000264316.4 - 10 999 c.914C>G c.(913-915)tCc>tGc p.S305C NM_003328.2 NP_003319.2 P42681 TXK_HUMAN TXK tyrosine kinase 305 Protein kinase. cytoplasm ATP binding|non-membrane spanning protein tyrosine kinase activity breast(2)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(11)|prostate(2) 25 TTCAGACATGGAGCCTTCATT 0.433000 13 131 0 0 1 0 0 GRIN2B 2904 broad.mit.edu 37 12 13768577 13768577 + Silent SNP C C T TCGA-MT-A51W-01A-21D-A25Y-08 TCGA-MT-A51W-10A-01D-A25Y-08 Untested Somatic Phase_I WXS none Illumina GAIIx 644ad1be-542b-4ddc-af21-4f091e53e576 ec0c9bb4-63cf-4fa4-88ad-db1b39a86312 g.chr12:13768577C>T ENST00000279593.3 - 6 1559 c.1350G>A c.(1348-1350)ccG>ccA p.P450P NM_000834.3 NP_000825.2 Q13224 NMDE2_HUMAN glutamate receptor, ionotropic, N-methyl D-aspartate 2B 450 response to ethanol cell junction|N-methyl-D-aspartate selective glutamate receptor complex|outer membrane-bounded periplasmic space|postsynaptic membrane glycine binding|N-methyl-D-aspartate selective glutamate receptor activity|zinc ion binding p.P450P(1) NS(1)|breast(3)|central_nervous_system(5)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(3)|kidney(12)|large_intestine(12)|liver(1)|lung(70)|ovary(4)|prostate(6)|skin(10)|upper_aerodigestive_tract(5)|urinary_tract(1) 143 Felbamate(DB00949)|Haloperidol(DB00502)|L-Glutamic Acid(DB00142)|Loperamide(DB00836)|Memantine(DB01043) TGATGTAACCCGGCTCCTCGT 0.353000 40 175 0 0 1 0 0 BRINP3 339479 broad.mit.edu 37 1 190423828 190423828 + Missense_Mutation SNP C C A TCGA-MT-A51W-01A-21D-A25Y-08 TCGA-MT-A51W-10A-01D-A25Y-08 Untested Somatic Phase_I WXS none Illumina GAIIx 644ad1be-542b-4ddc-af21-4f091e53e576 ec0c9bb4-63cf-4fa4-88ad-db1b39a86312 g.chr1:190423828C>A ENST00000367462.3 - 2 424 c.193G>T c.(193-195)Gac>Tac p.D65Y FAM5C_ENST00000534846.1_Missense_Mutation_p.W26C|FAM5C_ENST00000484105.1_5'UTR NM_199051.1 NP_950252.1 Q76B58 FAM5C_HUMAN 65 extracellular region NS(1)|breast(5)|endometrium(8)|haematopoietic_and_lymphoid_tissue(6)|kidney(8)|large_intestine(18)|lung(98)|ovary(3)|prostate(3)|skin(5)|upper_aerodigestive_tract(7)|urinary_tract(2) 164 Prostate(682;0.198) CGGCTTCTGTCCACAAAATCT 0.463000 3 29 1 1 1 1 0 EPPK1 83481 broad.mit.edu 37 8 144942069 144942069 + Missense_Mutation SNP G G A TCGA-MT-A51W-01A-21D-A25Y-08 TCGA-MT-A51W-10A-01D-A25Y-08 Untested Somatic Phase_I WXS none Illumina GAIIx 644ad1be-542b-4ddc-af21-4f091e53e576 ec0c9bb4-63cf-4fa4-88ad-db1b39a86312 g.chr8:144942069G>A ENST00000525985.1 - 2 5424 c.5353C>T c.(5353-5355)Cgc>Tgc p.R1785C P58107 EPIPL_HUMAN epiplakin 1 1785 cytoplasm|cytoskeleton protein binding|structural molecule activity NS(1)|autonomic_ganglia(1)|breast(1)|central_nervous_system(5)|cervix(1)|endometrium(8)|kidney(4)|large_intestine(2)|lung(30)|ovary(2)|pancreas(1)|prostate(10)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1) 71 all_cancers(97;1.42e-10)|all_epithelial(106;1.99e-09)|Lung NSC(106;0.000126)|all_lung(105;0.000354)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155) OV - Ovarian serous cystadenocarcinoma(54;2.46e-41)|Epithelial(56;2.88e-40)|all cancers(56;1.82e-35)|Colorectal(110;0.055)|BRCA - Breast invasive adenocarcinoma(115;0.105) CTCCCCACGCGCATTTTTGCA 0.517000 40 112 0 0 1 0 0 OR10AG1 282770 broad.mit.edu 37 11 55735289 55735289 + Missense_Mutation SNP C C G TCGA-MT-A51W-01A-21D-A25Y-08 TCGA-MT-A51W-10A-01D-A25Y-08 Untested Somatic Phase_I WXS none Illumina GAIIx 644ad1be-542b-4ddc-af21-4f091e53e576 ec0c9bb4-63cf-4fa4-88ad-db1b39a86312 g.chr11:55735289C>G ENST00000312345.2 - 1 701 c.651G>C c.(649-651)ttG>ttC p.L217F NM_001005491.1 NP_001005491.1 Q8NH19 O10AG_HUMAN olfactory receptor, family 10, subfamily AG, member 1 217 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(24)|ovary(2)|skin(3)|upper_aerodigestive_tract(1) 40 Esophageal squamous(21;0.0137) ATGACAATTTCAAAATGTTGG 0.393000 7 78 0 0 1 0 0 ZSCAN29 146050 broad.mit.edu 37 15 43658664 43658664 + Missense_Mutation SNP T T C TCGA-MT-A51W-01A-21D-A25Y-08 TCGA-MT-A51W-10A-01D-A25Y-08 Untested Somatic Phase_I WXS none Illumina GAIIx 644ad1be-542b-4ddc-af21-4f091e53e576 ec0c9bb4-63cf-4fa4-88ad-db1b39a86312 g.chr15:43658664T>C ENST00000396976.2 - 3 1000 c.866A>G c.(865-867)tAt>tGt p.Y289C ZSCAN29_ENST00000568898.1_Intron|ZSCAN29_ENST00000562072.1_Missense_Mutation_p.Y288C|ZSCAN29_ENST00000396972.1_Intron NM_152455.3 NP_689668.3 Q8IWY8 ZSC29_HUMAN zinc finger and SCAN domain containing 29 289 viral reproduction nucleus DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding cervix(1)|endometrium(2)|kidney(3)|large_intestine(9)|lung(7)|skin(2) 24 all_cancers(109;2.12e-14)|all_epithelial(112;1.99e-12)|Lung NSC(122;2.46e-08)|all_lung(180;2.75e-07)|Melanoma(134;0.0476)|Colorectal(260;0.215) GBM - Glioblastoma multiforme(94;8.97e-07) GAGGAAGCCATATTCCCTGAG 0.557000 12 95 0 0 1 0 0 AHNAK 79026 broad.mit.edu 37 11 62291089 62291089 + Silent SNP C C G TCGA-MT-A51W-01A-21D-A25Y-08 TCGA-MT-A51W-10A-01D-A25Y-08 Untested Somatic Phase_I WXS none Illumina GAIIx 644ad1be-542b-4ddc-af21-4f091e53e576 ec0c9bb4-63cf-4fa4-88ad-db1b39a86312 g.chr11:62291089C>G ENST00000378024.4 - 5 11074 c.10800G>C c.(10798-10800)ctG>ctC p.L3600L AHNAK_ENST00000257247.7_Intron|AHNAK_ENST00000530124.1_Intron NM_001620.1 NP_001611.1 Q09666 AHNK_HUMAN AHNAK nucleoprotein 3600 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) TGGGCATCTTCAGATGCCAGT 0.483000 31 275 0 0 1 0 0 C3orf30 152405 broad.mit.edu 37 3 118865650 118865650 + Missense_Mutation SNP G G C TCGA-MT-A51W-01A-21D-A25Y-08 TCGA-MT-A51W-10A-01D-A25Y-08 Untested Somatic Phase_I WXS none Illumina GAIIx 644ad1be-542b-4ddc-af21-4f091e53e576 ec0c9bb4-63cf-4fa4-88ad-db1b39a86312 g.chr3:118865650G>C ENST00000295622.1 + 1 654 c.614G>C c.(613-615)aGa>aCa p.R205T NM_152539.2 NP_689752.2 Q96M34 CC030_HUMAN chromosome 3 open reading frame 30 205 NS(1)|breast(1)|cervix(1)|endometrium(1)|large_intestine(6)|lung(20)|ovary(2)|prostate(1)|urinary_tract(1) 34 GBM - Glioblastoma multiforme(114;0.222) GCTGAGCGAAGAACTTCTGAG 0.517000 14 104 0 0 1 0 0 SPEN 23013 broad.mit.edu 37 1 16255489 16255489 + Missense_Mutation SNP G G T TCGA-MT-A51W-01A-21D-A25Y-08 TCGA-MT-A51W-10A-01D-A25Y-08 Untested Somatic Phase_I WXS none Illumina GAIIx 644ad1be-542b-4ddc-af21-4f091e53e576 ec0c9bb4-63cf-4fa4-88ad-db1b39a86312 g.chr1:16255489G>T ENST00000375759.3 + 11 2958 c.2754G>T c.(2752-2754)caG>caT p.Q918H NM_015001.2 NP_055816.2 Q96T58 MINT_HUMAN spen family transcriptional repressor 918 interspecies interaction between organisms|negative regulation of transcription, DNA-dependent|Notch signaling pathway nucleus nucleotide binding|protein binding|RNA binding NS(1)|breast(13)|central_nervous_system(3)|cervix(5)|endometrium(16)|kidney(18)|large_intestine(27)|liver(2)|lung(37)|ovary(7)|prostate(7)|skin(7)|upper_aerodigestive_tract(5)|urinary_tract(1) 149 Colorectal(325;0.000258)|Breast(348;0.000278)|Lung NSC(340;0.000419)|Renal(390;0.000518)|all_lung(284;0.000567)|Ovarian(437;0.0129)|Myeloproliferative disorder(586;0.0255) UCEC - Uterine corpus endometrioid carcinoma (279;0.0185)|Colorectal(212;5.96e-07)|COAD - Colon adenocarcinoma(227;3.11e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000115)|Kidney(64;0.000212)|KIRC - Kidney renal clear cell carcinoma(64;0.003)|STAD - Stomach adenocarcinoma(313;0.013)|READ - Rectum adenocarcinoma(331;0.0681) AGAAACTTCAGGTCTCTCAGA 0.443000 46 188 5.20006e-24 5.77207e-24 1 1 0 ARID4A 5926 broad.mit.edu 37 14 58830908 58830908 + Missense_Mutation SNP G G A TCGA-MT-A51W-01A-21D-A25Y-08 TCGA-MT-A51W-10A-01D-A25Y-08 Untested Somatic Phase_I WXS none Illumina GAIIx 644ad1be-542b-4ddc-af21-4f091e53e576 ec0c9bb4-63cf-4fa4-88ad-db1b39a86312 g.chr14:58830908G>A ENST00000355431.3 + 20 2474 c.2101G>A c.(2101-2103)Gaa>Aaa p.E701K ARID4A_ENST00000431317.2_Missense_Mutation_p.E701K|ARID4A_ENST00000348476.3_Missense_Mutation_p.E701K|ARID4A_ENST00000395168.3_Missense_Mutation_p.E701K NM_002892.3 NP_002883.3 P29374 ARI4A_HUMAN AT rich interactive domain 4A (RBP1-like) 701 negative regulation of transcription, DNA-dependent|transcription from RNA polymerase II promoter transcriptional repressor complex DNA binding|sequence-specific DNA binding transcription factor activity NS(1)|breast(2)|central_nervous_system(1)|cervix(4)|endometrium(8)|kidney(2)|large_intestine(14)|lung(19)|ovary(3)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1) 60 ATCTGATAGTGAAACAGAAGA 0.234000 11 68 0 0 1 0 0 HMCN1 83872 broad.mit.edu 37 1 185891515 185891515 + Nonsense_Mutation SNP C C G TCGA-MT-A51W-01A-21D-A25Y-08 TCGA-MT-A51W-10A-01D-A25Y-08 Untested Somatic Phase_I WXS none Illumina GAIIx 644ad1be-542b-4ddc-af21-4f091e53e576 ec0c9bb4-63cf-4fa4-88ad-db1b39a86312 g.chr1:185891515C>G ENST00000271588.4 + 7 1134 c.905C>G c.(904-906)tCa>tGa p.S302* HMCN1_ENST00000367492.2_Nonsense_Mutation_p.S302* NM_031935.2 NP_114141.2 Q96RW7 HMCN1_HUMAN hemicentin 1 302 response to stimulus|visual perception basement membrane calcium ion binding NS(2)|autonomic_ganglia(1)|breast(10)|central_nervous_system(2)|cervix(1)|endometrium(28)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(58)|liver(3)|lung(101)|ovary(23)|pancreas(4)|prostate(20)|skin(8)|stomach(1)|upper_aerodigestive_tract(11)|urinary_tract(18) 308 TTTCAGACCTCAAGCAGTGGA 0.448000 11 59 0 0 1 0 0 SLC5A5 6528 broad.mit.edu 37 19 17983383 17983383 + Silent SNP C C G TCGA-MT-A51W-01A-21D-A25Y-08 TCGA-MT-A51W-10A-01D-A25Y-08 Untested Somatic Phase_I WXS none Illumina GAIIx 644ad1be-542b-4ddc-af21-4f091e53e576 ec0c9bb4-63cf-4fa4-88ad-db1b39a86312 g.chr19:17983383C>G ENST00000222248.3 + 1 602 c.255C>G c.(253-255)ctC>ctG p.L85L NM_000453.2 NP_000444.1 Q92911 SC5A5_HUMAN solute carrier family 5 (sodium/iodide cotransporter), member 5 85 cellular nitrogen compound metabolic process|cellular response to cAMP|cellular response to gonadotropin stimulus|hormone biosynthetic process integral to membrane|nucleus|plasma membrane iodide transmembrane transporter activity|sodium:iodide symporter activity NS(2)|biliary_tract(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|large_intestine(6)|lung(13)|ovary(1)|prostate(1)|skin(3) 31 GCTATGGCCTCAAGTTCCTCT 0.672000 7 19 0 0 1 0 0 PHF1 5252 broad.mit.edu 37 6 33381858 33381858 + Missense_Mutation SNP G G A TCGA-MT-A51W-01A-21D-A25Y-08 TCGA-MT-A51W-10A-01D-A25Y-08 Untested Somatic Phase_I WXS none Illumina GAIIx 644ad1be-542b-4ddc-af21-4f091e53e576 ec0c9bb4-63cf-4fa4-88ad-db1b39a86312 g.chr6:33381858G>A ENST00000374516.3 + 8 995 c.724G>A c.(724-726)Gag>Aag p.E242K PHF1_ENST00000374512.3_Missense_Mutation_p.E242K NM_024165.2 NP_077084.1 O43189 PHF1_HUMAN PHD finger protein 1 242 chromatin modification nucleus nucleic acid binding|sequence-specific DNA binding transcription factor activity|zinc ion binding endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(1)|lung(5)|ovary(2)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1) 19 Ovarian(999;0.0443) CGGGGGCCCTGAGAAAGTCCG 0.527000 15 79 0 0 1 0 0 KRTAP1-5 83895 broad.mit.edu 37 17 39183145 39183145 + Missense_Mutation SNP A A G TCGA-MT-A51W-01A-21D-A25Y-08 TCGA-MT-A51W-10A-01D-A25Y-08 Untested Somatic Phase_I WXS none Illumina GAIIx 644ad1be-542b-4ddc-af21-4f091e53e576 ec0c9bb4-63cf-4fa4-88ad-db1b39a86312 g.chr17:39183145A>G ENST00000361883.5 - 1 309 c.263T>C c.(262-264)aTc>aCc p.I88T NM_031957.1 NP_114163.1 Q9BYS1 KRA15_HUMAN keratin associated protein 1-5 88 15 X 5 AA repeats of C-C-[QEPVRC]- [TPIVLE]-[SRHVP]. keratin filament p.I88T(11) central_nervous_system(1)|endometrium(2)|kidney(1)|lung(9)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(2) 17 Breast(137;0.00043) STAD - Stomach adenocarcinoma(17;0.000371) GCAGGAGCTGATCTGGCAGCA 0.632000 4 61 0 0 1 0 0 RLF 6018 broad.mit.edu 37 1 40627183 40627183 + Missense_Mutation SNP C C T rs147792979 byFrequency TCGA-MT-A51W-01A-21D-A25Y-08 TCGA-MT-A51W-10A-01D-A25Y-08 Untested Somatic Phase_I WXS none Illumina GAIIx 644ad1be-542b-4ddc-af21-4f091e53e576 ec0c9bb4-63cf-4fa4-88ad-db1b39a86312 g.chr1:40627183C>T ENST00000372771.4 + 1 139 c.112C>T c.(112-114)Cgc>Tgc p.R38C NM_012421.3 NP_036553.2 Q13129 RLF_HUMAN rearranged L-myc fusion 38 chromosome organization|DNA integration|DNA mediated transformation|positive regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent DNA binding|protein binding|zinc ion binding NS(1)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(11)|kidney(4)|large_intestine(18)|lung(18)|ovary(2)|pancreas(1)|prostate(2)|skin(1)|stomach(4)|urinary_tract(2) 68 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;5.87e-19)|Epithelial(16;7.02e-16)|all cancers(16;1.69e-14)|Lung(16;0.0427)|LUSC - Lung squamous cell carcinoma(16;0.0461) TCGGGGTCATCGCCCCGTATC 0.672000 3 29 0 0 1 0 0 HSP90AB1 3326 broad.mit.edu 37 6 44220884 44220884 + Silent SNP C C A TCGA-MT-A51W-01A-21D-A25Y-08 TCGA-MT-A51W-10A-01D-A25Y-08 Untested Somatic Phase_I WXS none Illumina GAIIx 644ad1be-542b-4ddc-af21-4f091e53e576 ec0c9bb4-63cf-4fa4-88ad-db1b39a86312 g.chr6:44220884C>A ENST00000371554.1 + 11 2048 c.1834C>A c.(1834-1836)Cgg>Agg p.R612R HSP90AB1_ENST00000353801.3_Silent_p.R612R|HSP90AB1_ENST00000371646.5_Silent_p.R612R P08238 HS90B_HUMAN heat shock protein 90kDa alpha (cytosolic), class B member 1 612 axon guidance|negative regulation of proteasomal ubiquitin-dependent protein catabolic process|positive regulation of nitric oxide biosynthetic process|protein folding|regulation of interferon-gamma-mediated signaling pathway|regulation of type I interferon-mediated signaling pathway|response to unfolded protein cytosol|melanosome ATP binding|nitric-oxide synthase regulator activity|TPR domain binding|unfolded protein binding NS(1)|breast(1)|endometrium(6)|kidney(2)|large_intestine(5)|lung(12)|prostate(2)|skin(2)|urinary_tract(2) 33 all_cancers(18;1.7e-05)|all_lung(25;0.00747)|Hepatocellular(11;0.00908)|Ovarian(13;0.0273) Colorectal(64;0.00337)|COAD - Colon adenocarcinoma(64;0.00536) CCAGGCACTTCGGGACAACTC 0.547000 16 159 3.45872e-05 3.62186e-05 1 1 0 ZNF804B 219578 broad.mit.edu 37 7 88965282 88965282 + Missense_Mutation SNP G G A TCGA-MT-A51W-01A-21D-A25Y-08 TCGA-MT-A51W-10A-01D-A25Y-08 Untested Somatic Phase_I WXS none Illumina GAIIx 644ad1be-542b-4ddc-af21-4f091e53e576 ec0c9bb4-63cf-4fa4-88ad-db1b39a86312 g.chr7:88965282G>A ENST00000333190.4 + 4 3595 c.2986G>A c.(2986-2988)Gca>Aca p.A996T NM_181646.2 NP_857597.1 A4D1E1 Z804B_HUMAN zinc finger protein 804B 996 intracellular zinc ion binding NS(1)|breast(2)|endometrium(5)|kidney(5)|large_intestine(20)|lung(78)|ovary(5)|pancreas(5)|prostate(2)|skin(11)|soft_tissue(1)|upper_aerodigestive_tract(9) 144 all_hematologic(106;0.125)|Lung NSC(181;0.15)|all_lung(186;0.151) STAD - Stomach adenocarcinoma(171;0.0513) TCAAGACAGTGCAATTCCAAG 0.373000 HNSCC(36;0.09) 14 216 0 0 1 0 0 TP53 7157 broad.mit.edu 37 17 7577566 7577566 + Missense_Mutation SNP T T C TCGA-MT-A51W-01A-21D-A25Y-08 TCGA-MT-A51W-10A-01D-A25Y-08 Untested Somatic Phase_I WXS none Illumina GAIIx 644ad1be-542b-4ddc-af21-4f091e53e576 ec0c9bb4-63cf-4fa4-88ad-db1b39a86312 g.chr17:7577566T>C ENST00000420246.2 - 7 847 c.715A>G c.(715-717)Aac>Gac p.N239D TP53_ENST00000445888.2_Missense_Mutation_p.N239D|TP53_ENST00000455263.2_Missense_Mutation_p.N239D|TP53_ENST00000359597.4_Missense_Mutation_p.N239D|TP53_ENST00000413465.2_Missense_Mutation_p.N239D|TP53_ENST00000269305.4_Missense_Mutation_p.N239D NM_001126114.2|NM_001276696.1 NP_001119586.1|NP_001263625.1 P04637 P53_HUMAN tumor protein p53 239 Interaction with AXIN1 (By similarity).|Interaction with HIPK1 (By similarity). N -> D (in sporadic cancers; somatic mutation).|N -> H (in a sporadic cancer; somatic mutation).|N -> I (in a sporadic cancer; somatic mutation).|N -> K (in sporadic cancers; somatic mutation).|N -> S (in sporadic cancers; somatic mutation).|N -> T (in sporadic cancers; somatic mutation).|N -> Y (in sporadic cancers; somatic mutation). activation of caspase activity by cytochrome c|base-excision repair|blood coagulation|cell cycle arrest|cell differentiation|cell proliferation|cellular protein localization|cellular response to drug|cellular response to glucose starvation|cellular response to hypoxia|cellular response to ionizing radiation|cellular response to UV|determination of adult lifespan|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|ER overload response|interspecies interaction between organisms|negative regulation of apoptosis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of helicase activity|negative regulation of transcription from RNA polymerase II promoter|nucleotide-excision repair|oxidative stress-induced premature senescence|positive regulation of histone deacetylation|positive regulation of neuron apoptosis|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of reactive oxygen species metabolic process|positive regulation of thymocyte apoptosis|positive regulation of transcription from RNA polymerase II promoter|protein localization|protein tetramerization|Ras protein signal transduction|regulation of mitochondrial membrane permeability|replicative senescence|response to antibiotic|response to gamma radiation|response to X-ray cytoplasm|cytosol|endoplasmic reticulum|insoluble fraction|mitochondrion|nuclear chromatin|nuclear matrix|nucleolus|nucleus|PML body|protein complex|replication fork ATP binding|chaperone binding|chromatin binding|copper ion binding|damaged DNA binding|DNA strand annealing activity|histone acetyltransferase binding|p53 binding|protease binding|protein binding|protein heterodimerization activity|protein kinase binding|protein N-terminus binding|protein phosphatase 2A binding|RNA polymerase II transcription factor binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|transcription repressor activity|ubiquitin protein ligase binding|zinc ion binding p.N239D(33)|p.N239fs*25(12)|p.0?(8)|p.N239Y(6)|p.N239fs*1(5)|p.?(5)|p.M237_N239delMCN(4)|p.N239_C242delNSSC(3)|p.N239fs*8(2)|p.N239_S240delNS(2)|p.N239fs*26(1)|p.N146D(1)|p.N146fs*1(1)|p.Y236_M243delYMCNSSCM(1)|p.V225fs*23(1)|p.N239fs*6(1)|p.N239fs*4(1)|p.C238_N239insX(1)|p.C238_M246delCNSSCMGGM(1)|p.M144_N146delMCN(1)|p.C238fs*21(1)|p.H233fs*6(1)|p.N239*(1)|p.H233_C242del10(1)|p.N239_C242del(1) NS(16)|adrenal_gland(37)|autonomic_ganglia(16)|biliary_tract(273)|bone(108)|breast(2530)|central_nervous_system(1264)|cervix(68)|endometrium(223)|eye(24)|fallopian_tube(1)|gastrointestinal_tract_(site_indeterminate)(1)|genital_tract(16)|haematopoietic_and_lymphoid_tissue(1301)|kidney(96)|large_intestine(5124)|liver(897)|lung(2388)|meninges(5)|oesophagus(1473)|ovary(1659)|pancreas(452)|penis(10)|peritoneum(33)|pituitary(4)|placenta(1)|pleura(3)|prostate(235)|salivary_gland(43)|skin(791)|small_intestine(14)|soft_tissue(220)|stomach(1158)|testis(11)|thymus(21)|thyroid(54)|upper_aerodigestive_tract(2271)|urinary_tract(1259)|vagina(6)|vulva(79) 24185 all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081) GBM - Glioblastoma multiforme(2;1.59e-06)|READ - Rectum adenocarcinoma(115;0.174) CAGGAACTGTTACACATGTAG 0.572000 111 """Mis, N, F""" """breast, colorectal, lung, sarcoma, adrenocortical, glioma, multiple other tumour types""" """breast, sarcoma, adrenocortical carcinoma, glioma, multiple other tumour types""" Other conserved DNA damage response genes Osteosarcoma, Familial Clustering of;Li-Fraumeni syndrome;Hereditary Breast-Ovarian Cancer, non-BRCA1/2;Hereditary Adrenocortical Cancer;Endometrial Cancer, Familial Clustering of HNSCC(1;<9.43e-08)|TCGA GBM(1;<1E-08)|TSP Lung(2;<1E-08)|TCGA Ovarian(1;<1.89e-07)|Multiple Myeloma(5;0.019) 18 30 0 0 1 0 0 ERBB4 2066 broad.mit.edu 37 2 212426726 212426726 + Nonsense_Mutation SNP G G A TCGA-MT-A51W-01A-21D-A25Y-08 TCGA-MT-A51W-10A-01D-A25Y-08 Untested Somatic Phase_I WXS none Illumina GAIIx 644ad1be-542b-4ddc-af21-4f091e53e576 ec0c9bb4-63cf-4fa4-88ad-db1b39a86312 g.chr2:212426726G>A ENST00000342788.4 - 20 2699 c.2389C>T c.(2389-2391)Caa>Taa p.Q797* ERBB4_ENST00000402597.1_Nonsense_Mutation_p.Q787*|ERBB4_ENST00000436443.1_Nonsense_Mutation_p.Q797* NM_005235.2 NP_005226.1 Q15303 ERBB4_HUMAN v-erb-b2 avian erythroblastic leukemia viral oncogene homolog 4 797 Protein kinase. cell proliferation|regulation of transcription, DNA-dependent|transcription, DNA-dependent|transmembrane receptor protein tyrosine kinase signaling pathway basolateral plasma membrane|cytoplasm|integral to membrane|nucleus ATP binding|protein binding|receptor signaling protein tyrosine kinase activity|transmembrane receptor protein tyrosine kinase activity NS(1)|breast(7)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(31)|lung(71)|pancreas(1)|prostate(3)|skin(39)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(1) 179 Renal(323;0.06)|Lung NSC(271;0.197) UCEC - Uterine corpus endometrioid carcinoma (47;0.214)|Epithelial(149;5.86e-06)|all cancers(144;2.95e-05)|Lung(261;0.00244)|LUSC - Lung squamous cell carcinoma(224;0.00266) GGCATAAGTTGAGTAACCAGC 0.488000 TSP Lung(8;0.080) 16 65 0 0 1 0 0 MUC16 94025 broad.mit.edu 37 19 9089203 9089203 + Missense_Mutation SNP T T C TCGA-MT-A51W-01A-21D-A25Y-08 TCGA-MT-A51W-10A-01D-A25Y-08 Untested Somatic Phase_I WXS none Illumina GAIIx 644ad1be-542b-4ddc-af21-4f091e53e576 ec0c9bb4-63cf-4fa4-88ad-db1b39a86312 g.chr19:9089203T>C ENST00000397910.4 - 1 2815 c.2612A>G c.(2611-2613)aAt>aGt p.N871S NM_024690.2 NP_078966.2 Q8WXI7 MUC16_HUMAN mucin 16, cell surface associated 871 Thr-rich. cell adhesion extracellular space|extrinsic to membrane|integral to membrane|plasma membrane protein binding NS(9)|autonomic_ganglia(1)|breast(26)|central_nervous_system(11)|cervix(1)|endometrium(46)|haematopoietic_and_lymphoid_tissue(5)|kidney(35)|large_intestine(91)|liver(1)|lung(278)|ovary(17)|pancreas(2)|prostate(17)|skin(18)|soft_tissue(1)|stomach(8)|upper_aerodigestive_tract(16)|urinary_tract(7) 590 CACAGATGGATTCGAAGTTTC 0.488000 10 62 0 0 1 0 0 LOC202181 202181 broad.mit.edu 37 5 177059130 177059130 + RNA SNP T T G rs6886539 by1000genomes TCGA-MT-A51W-01A-21D-A25Y-08 TCGA-MT-A51W-10A-01D-A25Y-08 Untested Somatic Phase_I WXS none Illumina GAIIx 644ad1be-542b-4ddc-af21-4f091e53e576 ec0c9bb4-63cf-4fa4-88ad-db1b39a86312 g.chr5:177059130T>G ENST00000515045.1 - 0 798 NR_026921.1 CTTGAGGTGGTTGAGTTAGAG 0.542000 3 26 0 0 1 0 0 ZNF614 80110 broad.mit.edu 37 19 52519999 52519999 + Missense_Mutation SNP C C A TCGA-MT-A51W-01A-21D-A25Y-08 TCGA-MT-A51W-10A-01D-A25Y-08 Untested Somatic Phase_I WXS none Illumina GAIIx 644ad1be-542b-4ddc-af21-4f091e53e576 ec0c9bb4-63cf-4fa4-88ad-db1b39a86312 g.chr19:52519999C>A ENST00000270649.6 - 5 1396 c.852G>T c.(850-852)gaG>gaT p.E284D ZNF614_ENST00000356322.6_Intron NM_025040.3 NP_079316.2 Q8N883 ZN614_HUMAN zinc finger protein 614 284 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding NS(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(9)|ovary(2)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1) 24 all_neural(266;0.0505) GBM - Glioblastoma multiforme(134;0.00513)|OV - Ovarian serous cystadenocarcinoma(262;0.0177) TATAGGATTTCTCTTCTGTAT 0.383000 29 98 4.22769e-11 4.60073e-11 1 1 0 AP3D1 8943 broad.mit.edu 37 19 2132553 2132553 + Missense_Mutation SNP C C T TCGA-MT-A51W-01A-21D-A25Y-08 TCGA-MT-A51W-10A-01D-A25Y-08 Untested Somatic Phase_I WXS none Illumina GAIIx 644ad1be-542b-4ddc-af21-4f091e53e576 ec0c9bb4-63cf-4fa4-88ad-db1b39a86312 g.chr19:2132553C>T ENST00000355272.6 - 5 585 c.379G>A c.(379-381)Gac>Aac p.D127N AP3D1_ENST00000345016.5_Missense_Mutation_p.D127N|AP3D1_ENST00000356926.4_Missense_Mutation_p.D127N|AP3D1_ENST00000350812.6_Intron NM_001261826.1 NP_001248755.1 O14617 AP3D1_HUMAN adaptor-related protein complex 3, delta 1 subunit 127 eye pigment biosynthetic process|intracellular protein transport|regulation of sequestering of zinc ion|vesicle-mediated transport endosome membrane|Golgi membrane|membrane coat binding|protein transporter activity breast(1)|endometrium(3)|kidney(1)|large_intestine(4)|lung(23)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2) 37 Hepatocellular(1079;0.137) UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18) ACACCTGTGTCGTACTGGCTG 0.597000 9 83 0 0 1 0 0 DST 667 broad.mit.edu 37 6 56420405 56420405 + Silent SNP G G A TCGA-MT-A51W-01A-21D-A25Y-08 TCGA-MT-A51W-10A-01D-A25Y-08 Untested Somatic Phase_I WXS none Illumina GAIIx 644ad1be-542b-4ddc-af21-4f091e53e576 ec0c9bb4-63cf-4fa4-88ad-db1b39a86312 g.chr6:56420405G>A ENST00000370754.5 - 60 14780 c.14781C>T c.(14779-14781)agC>agT p.S4927S DST_ENST00000421834.2_Silent_p.S2661S|DST_ENST00000370788.2_Silent_p.S2661S|DST_ENST00000361203.3_Silent_p.S4747S|DST_ENST00000312431.6_3'UTR|DST_ENST00000244364.6_Silent_p.S2335S|DST_ENST00000370769.4_Silent_p.S4749S|DST_ENST00000446842.2_Silent_p.S4423S Q03001 DYST_HUMAN dystonin 4747 cell adhesion|cell cycle arrest|cell motility|hemidesmosome assembly|integrin-mediated signaling pathway|intermediate filament cytoskeleton organization|maintenance of cell polarity|microtubule cytoskeleton organization|response to wounding actin cytoskeleton|axon|axon part|basement membrane|cell cortex|cell leading edge|cytoplasmic membrane-bounded vesicle|endoplasmic reticulum membrane|hemidesmosome|integral to membrane|intermediate filament|intermediate filament cytoskeleton|microtubule cytoskeleton|microtubule plus end|nuclear envelope|sarcomere|Z disc actin binding|calcium ion binding|integrin binding|microtubule plus-end binding|protein binding|protein C-terminus binding|protein homodimerization activity NS(1)|breast(5)|central_nervous_system(8)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(22)|lung(43)|ovary(7)|prostate(1)|skin(4)|upper_aerodigestive_tract(3) 105 Lung NSC(77;0.103) LUSC - Lung squamous cell carcinoma(124;0.0485)|Lung(124;0.0956) TATCAGAAAGGCTTCTCAGCA 0.458000 11 79 0 0 1 0 0 SUSD4 55061 broad.mit.edu 37 1 223401022 223401022 + Silent SNP G G A TCGA-MT-A51W-01A-21D-A25Y-08 TCGA-MT-A51W-10A-01D-A25Y-08 Untested Somatic Phase_I WXS none Illumina GAIIx 644ad1be-542b-4ddc-af21-4f091e53e576 ec0c9bb4-63cf-4fa4-88ad-db1b39a86312 g.chr1:223401022G>A ENST00000343846.3 - 6 1608 c.975C>T c.(973-975)ttC>ttT p.F325F SUSD4_ENST00000454695.2_Silent_p.F165F|SUSD4_ENST00000478605.1_Intron|SUSD4_ENST00000366878.4_Silent_p.F325F Q5VX71 SUSD4_HUMAN sushi domain containing 4 325 integral to membrane cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(5)|liver(1)|lung(5)|skin(1) 17 GBM - Glioblastoma multiforme(131;0.0611) TGGTTGCCGTGAACGCCACAA 0.587000 3 19 0 0 1 0 0 ZCCHC6 79670 broad.mit.edu 37 9 88924883 88924883 + Missense_Mutation SNP C C G TCGA-MT-A51W-01A-21D-A25Y-08 TCGA-MT-A51W-10A-01D-A25Y-08 Untested Somatic Phase_I WXS none Illumina GAIIx 644ad1be-542b-4ddc-af21-4f091e53e576 ec0c9bb4-63cf-4fa4-88ad-db1b39a86312 g.chr9:88924883C>G ENST00000277141.6 - 20 3719 c.1295G>C c.(1294-1296)aGa>aCa p.R432T ZCCHC6_ENST00000375963.3_Missense_Mutation_p.R1143T|ZCCHC6_ENST00000375957.1_Missense_Mutation_p.R81T|ZCCHC6_ENST00000375961.2_Missense_Mutation_p.R1143T|ZCCHC6_ENST00000375960.2_Missense_Mutation_p.R907T Q5VYS8 TUT7_HUMAN zinc finger, CCHC domain containing 6 1143 RNA 3'-end processing nucleic acid binding|RNA uridylyltransferase activity|zinc ion binding breast(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(10)|liver(1)|lung(14)|ovary(2)|prostate(1)|skin(2)|urinary_tract(1) 46 ATACTTCACTCTGGGATCAAT 0.358000 6 51 0 0 1 0 0 MALAT1 378938 broad.mit.edu 37 11 65273249 65273249 + RNA SNP A A C TCGA-MT-A51W-01A-21D-A25Y-08 TCGA-MT-A51W-10A-01D-A25Y-08 Untested Somatic Phase_I WXS none Illumina GAIIx 644ad1be-542b-4ddc-af21-4f091e53e576 ec0c9bb4-63cf-4fa4-88ad-db1b39a86312 g.chr11:65273249A>C ENST00000534336.1 + 0 8017 NR_002819.2 CTCTATTATAATACTTATCCA 0.368000 27 80 0 0 1 0 0 CRAT 1384 broad.mit.edu 37 9 131862836 131862836 + Missense_Mutation SNP C C T TCGA-MT-A51W-01A-21D-A25Y-08 TCGA-MT-A51W-10A-01D-A25Y-08 Untested Somatic Phase_I WXS none Illumina GAIIx 644ad1be-542b-4ddc-af21-4f091e53e576 ec0c9bb4-63cf-4fa4-88ad-db1b39a86312 g.chr9:131862836C>T ENST00000318080.2 - 7 1232 c.938G>A c.(937-939)gGc>gAc p.G313D NM_000755.3|NM_001257363.1 NP_000746.2|NP_001244292.1 P43155 CACP_HUMAN carnitine O-acetyltransferase 313 energy derivation by oxidation of organic compounds|fatty acid beta-oxidation using acyl-CoA oxidase|transport endoplasmic reticulum|mitochondrial inner membrane|peroxisomal matrix carnitine O-acetyltransferase activity central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(4)|skin(1)|urinary_tract(2) 13 UCEC - Uterine corpus endometrioid carcinoma (4;0.0178) L-Carnitine(DB00583) GAGCCTGCTGCCGCCCCCATG 0.627000 18 50 0 0 1 0 0 UBR7 55148 broad.mit.edu 37 14 93693350 93693350 + Missense_Mutation SNP G G C TCGA-MT-A51W-01A-21D-A25Y-08 TCGA-MT-A51W-10A-01D-A25Y-08 Untested Somatic Phase_I WXS none Illumina GAIIx 644ad1be-542b-4ddc-af21-4f091e53e576 ec0c9bb4-63cf-4fa4-88ad-db1b39a86312 g.chr14:93693350G>C ENST00000013070.6 + 11 1483 c.1247G>C c.(1246-1248)aGa>aCa p.R416T UBR7_ENST00000416753.1_Missense_Mutation_p.R340T NM_175748.3 NP_786924.2 Q8N806 UBR7_HUMAN ubiquitin protein ligase E3 component n-recognin 7 (putative) 416 ubiquitin-protein ligase activity|zinc ion binding breast(2)|endometrium(2)|large_intestine(2)|lung(12)|urinary_tract(1) 19 AAGAGAAGAAGAGTGGATGGG 0.383000 9 39 0 0 1 0 0 APOL1 8542 broad.mit.edu 37 22 36653381 36653381 + Missense_Mutation SNP C C G TCGA-MT-A51W-01A-21D-A25Y-08 TCGA-MT-A51W-10A-01D-A25Y-08 Untested Somatic Phase_I WXS none Illumina GAIIx 644ad1be-542b-4ddc-af21-4f091e53e576 ec0c9bb4-63cf-4fa4-88ad-db1b39a86312 g.chr22:36653381C>G ENST00000319136.4 + 5 430 c.163C>G c.(163-165)Cca>Gca p.P55A APOL1_ENST00000347595.7_Intron|APOL1_ENST00000426053.1_Missense_Mutation_p.P21A|APOL1_ENST00000397279.4_Missense_Mutation_p.P39A|APOL1_ENST00000422706.1_Missense_Mutation_p.P39A|APOL1_ENST00000397278.3_Missense_Mutation_p.P39A|APOL1_ENST00000440669.2_Missense_Mutation_p.P39A NM_145343.2 NP_663318.1 O14791 APOL1_HUMAN apolipoprotein L, 1 39 cholesterol metabolic process|cytolysis|innate immune response|killing of cells of other organism|lipid transport|lipoprotein metabolic process high-density lipoprotein particle|very-low-density lipoprotein particle chloride channel activity|lipid binding|protein binding breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(3)|ovary(1)|prostate(1)|skin(2)|urinary_tract(2) 14 ACAAAACGTTCCAAGTGGGAC 0.562000 12 62 0 0 1 0 0 CASP5 838 broad.mit.edu 37 11 104879599 104879599 + Missense_Mutation SNP A A C TCGA-MT-A51W-01A-21D-A25Y-08 TCGA-MT-A51W-10A-01D-A25Y-08 Untested Somatic Phase_I WXS none Illumina GAIIx 644ad1be-542b-4ddc-af21-4f091e53e576 ec0c9bb4-63cf-4fa4-88ad-db1b39a86312 g.chr11:104879599A>C ENST00000393141.2 - 2 186 c.155T>G c.(154-156)gTg>gGg p.V52G CASP5_ENST00000260315.3_Missense_Mutation_p.V39G|CASP5_ENST00000526056.1_Missense_Mutation_p.V52G|CASP5_ENST00000531367.1_Intron|CASP5_ENST00000444749.2_Intron|CASP5_ENST00000393139.2_Missense_Mutation_p.V6G|CASP5_ENST00000418434.1_Intron NM_001136112.1|NM_004347.3 NP_001129584.1|NP_004338.3 P51878 CASP5_HUMAN caspase 5, apoptosis-related cysteine peptidase 39 apoptosis|cellular response to mechanical stimulus|proteolysis|regulation of apoptosis intracellular cysteine-type endopeptidase activity|protein binding NS(1)|breast(1)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(5)|lung(15)|ovary(3)|skin(1)|urinary_tract(1) 35 Acute lymphoblastic leukemia(157;0.000967)|all_hematologic(158;0.0017)|Melanoma(852;0.0047) BRCA - Breast invasive adenocarcinoma(274;0.000943)|Epithelial(105;0.0104)|all cancers(92;0.042) TTGTCCAGCCACGTTGTTCTT 0.373000 21 77 0 0 1 0 0 EPHA7 2045 broad.mit.edu 37 6 94068105 94068105 + Missense_Mutation SNP G G A TCGA-MT-A51W-01A-21D-A25Y-08 TCGA-MT-A51W-10A-01D-A25Y-08 Untested Somatic Phase_I WXS none Illumina GAIIx 644ad1be-542b-4ddc-af21-4f091e53e576 ec0c9bb4-63cf-4fa4-88ad-db1b39a86312 g.chr6:94068105G>A ENST00000369303.4 - 4 1041 c.857C>T c.(856-858)tCt>tTt p.S286F NM_004440.3 NP_004431.1 Q15375 EPHA7_HUMAN EPH receptor A7 286 Cys-rich. integral to plasma membrane ATP binding|ephrin receptor activity NS(1)|breast(1)|central_nervous_system(7)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(16)|lung(43)|ovary(8)|pancreas(1)|prostate(1)|skin(8)|stomach(1)|upper_aerodigestive_tract(13)|urinary_tract(1) 112 all_cancers(76;7.47e-10)|Acute lymphoblastic leukemia(125;1.88e-09)|all_hematologic(75;1.75e-07)|all_epithelial(107;3.6e-05)|Lung NSC(302;0.0368)|all_lung(197;0.0509)|Colorectal(196;0.142) BRCA - Breast invasive adenocarcinoma(108;0.0847) TTGAGAGGAAGACTTGTAGAA 0.403000 3 32 0 0 1 0 0 MRRF 92399 broad.mit.edu 37 9 125047560 125047560 + Silent SNP C C T TCGA-MT-A51W-01A-21D-A25Y-08 TCGA-MT-A51W-10A-01D-A25Y-08 Untested Somatic Phase_I WXS none Illumina GAIIx 644ad1be-542b-4ddc-af21-4f091e53e576 ec0c9bb4-63cf-4fa4-88ad-db1b39a86312 g.chr9:125047560C>T ENST00000344641.3 + 4 764 c.453C>T c.(451-453)ttC>ttT p.F151F MRRF_ENST00000373723.4_Silent_p.F151F|MRRF_ENST00000546115.1_Silent_p.F151F|MRRF_ENST00000373727.1_Silent_p.F151F|MRRF_ENST00000373728.1_Silent_p.F151F|MRRF_ENST00000394315.3_Silent_p.F151F|MRRF_ENST00000373729.1_Silent_p.F107F|MRRF_ENST00000373730.3_Silent_p.F151F|MRRF_ENST00000297908.3_Silent_p.F99F NM_138777.3 NP_620132.1 Q96E11 RRFM_HUMAN mitochondrial ribosome recycling factor 151 ribosome disassembly|translation mitochondrion sequence-specific DNA binding transcription factor activity breast(3)|endometrium(1)|large_intestine(1)|lung(4)|ovary(2)|skin(1) 12 TGGCCAGCTTCCCAGAGGTAA 0.478000 7 100 0 0 1 0 0 NT5C1A 84618 broad.mit.edu 37 1 40131868 40131868 + Missense_Mutation SNP C C T TCGA-MT-A51W-01A-21D-A25Y-08 TCGA-MT-A51W-10A-01D-A25Y-08 Untested Somatic Phase_I WXS none Illumina GAIIx 644ad1be-542b-4ddc-af21-4f091e53e576 ec0c9bb4-63cf-4fa4-88ad-db1b39a86312 g.chr1:40131868C>T ENST00000235628.1 - 2 175 c.176G>A c.(175-177)cGa>cAa p.R59Q NM_032526.1 NP_115915.1 Q9BXI3 5NT1A_HUMAN 5'-nucleotidase, cytosolic IA 59 purine base metabolic process|purine nucleotide catabolic process|pyrimidine base metabolic process|pyrimidine nucleoside catabolic process cytosol 5'-nucleotidase activity|magnesium ion binding|nucleotide binding breast(1)|large_intestine(3)|lung(7)|ovary(2)|prostate(2) 15 Lung NSC(20;3.81e-06)|Ovarian(52;0.00769)|all_hematologic(146;0.0501)|Acute lymphoblastic leukemia(166;0.074) Myeloproliferative disorder(586;0.0393) OV - Ovarian serous cystadenocarcinoma(33;1.87e-18)|Epithelial(16;4.3e-17)|all cancers(16;8.48e-16)|LUSC - Lung squamous cell carcinoma(16;0.000261)|Lung(16;0.000457) AAACAAGGCTCGGGAGGACAC 0.582000 6 47 0 0 1 0 0 MAPKAPK5 8550 broad.mit.edu 37 12 112323725 112323725 + Missense_Mutation SNP T T A TCGA-MT-A51W-01A-21D-A25Y-08 TCGA-MT-A51W-10A-01D-A25Y-08 Untested Somatic Phase_I WXS none Illumina GAIIx 644ad1be-542b-4ddc-af21-4f091e53e576 ec0c9bb4-63cf-4fa4-88ad-db1b39a86312 g.chr12:112323725T>A ENST00000550735.2 + 10 1610 c.854T>A c.(853-855)cTg>cAg p.L285Q MAPKAPK5_ENST00000551404.2_Missense_Mutation_p.L285Q NM_003668.2|NM_139078.1 NP_003659.2|NP_620777.1 Q8IW41 MAPK5_HUMAN mitogen-activated protein kinase-activated protein kinase 5 285 Protein kinase. signal transduction cytoplasm|nucleus ATP binding|MAP kinase kinase activity|protein binding|protein serine/threonine kinase activity endometrium(1)|lung(11)|ovary(1) 13 CACAGGCTCCTGAAGGTCAAA 0.552000 10 60 0 0 1 0 0 DST 667 broad.mit.edu 37 6 56765377 56765377 + Missense_Mutation SNP C C T TCGA-MT-A51W-01A-21D-A25Y-08 TCGA-MT-A51W-10A-01D-A25Y-08 Untested Somatic Phase_I WXS none Illumina GAIIx 644ad1be-542b-4ddc-af21-4f091e53e576 ec0c9bb4-63cf-4fa4-88ad-db1b39a86312 g.chr6:56765377C>T ENST00000370754.5 - 3 258 c.259G>A c.(259-261)Gcg>Acg p.A87T Q03001 DYST_HUMAN dystonin 0 Actin-binding.|CH 1. cell adhesion|cell cycle arrest|cell motility|hemidesmosome assembly|integrin-mediated signaling pathway|intermediate filament cytoskeleton organization|maintenance of cell polarity|microtubule cytoskeleton organization|response to wounding actin cytoskeleton|axon|axon part|basement membrane|cell cortex|cell leading edge|cytoplasmic membrane-bounded vesicle|endoplasmic reticulum membrane|hemidesmosome|integral to membrane|intermediate filament|intermediate filament cytoskeleton|microtubule cytoskeleton|microtubule plus end|nuclear envelope|sarcomere|Z disc actin binding|calcium ion binding|integrin binding|microtubule plus-end binding|protein binding|protein C-terminus binding|protein homodimerization activity NS(1)|breast(5)|central_nervous_system(8)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(22)|lung(43)|ovary(7)|prostate(1)|skin(4)|upper_aerodigestive_tract(3) 105 Lung NSC(77;0.103) LUSC - Lung squamous cell carcinoma(124;0.0485)|Lung(124;0.0956) GCTGCGGCCGCTGCAACTCGT 0.493000 20 89 0 0 1 0 0 EMG1 10436 broad.mit.edu 37 12 7084997 7084997 + RNA SNP A A G TCGA-MT-A51W-01A-21D-A25Y-08 TCGA-MT-A51W-10A-01D-A25Y-08 Untested Somatic Phase_I WXS none Illumina GAIIx 644ad1be-542b-4ddc-af21-4f091e53e576 ec0c9bb4-63cf-4fa4-88ad-db1b39a86312 g.chr12:7084997A>G ENST00000546220.1 + 0 791 U47924.19_ENST00000564245.1_RNA|U47924.28_ENST00000261406.6_lincRNA Q92979 NEP1_HUMAN EMG1 N1-specific pseudouridine methyltransferase ribosomal small subunit biogenesis cytoplasm|nucleolus rRNA (pseudouridine) methyltransferase activity|rRNA binding TTCTGAAACCAGAAACTGTTG 0.493000 13 75 0 0 1 0 0 PLEKHA6 22874 broad.mit.edu 37 1 204234159 204234159 + Missense_Mutation SNP C C G TCGA-MT-A51W-01A-21D-A25Y-08 TCGA-MT-A51W-10A-01D-A25Y-08 Untested Somatic Phase_I WXS none Illumina GAIIx 644ad1be-542b-4ddc-af21-4f091e53e576 ec0c9bb4-63cf-4fa4-88ad-db1b39a86312 g.chr1:204234159C>G ENST00000272203.3 - 6 608 c.292G>C c.(292-294)Gag>Cag p.E98Q PLEKHA6_ENST00000414478.1_Missense_Mutation_p.E98Q NM_014935.4 NP_055750.2 Q9Y2H5 PKHA6_HUMAN pleckstrin homology domain containing, family A member 6 98 PH. breast(2)|endometrium(6)|kidney(1)|large_intestine(9)|lung(21)|ovary(3)|pancreas(1)|prostate(3)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 53 all_cancers(21;0.0222)|Breast(84;0.179) KIRC - Kidney renal clear cell carcinoma(13;0.0584)|BRCA - Breast invasive adenocarcinoma(75;0.0833)|Kidney(21;0.0934)|Epithelial(59;0.229) AGGATACTCTCTTCCTTCTCA 0.592000 19 77 0 0 1 0 0 LINC00969 440993 broad.mit.edu 37 3 195404651 195404651 + RNA SNP C C G rs1996904 by1000genomes TCGA-MT-A51W-01A-21D-A25Y-08 TCGA-MT-A51W-10A-01D-A25Y-08 Untested Somatic Phase_I WXS none Illumina GAIIx 644ad1be-542b-4ddc-af21-4f091e53e576 ec0c9bb4-63cf-4fa4-88ad-db1b39a86312 g.chr3:195404651C>G ENST00000445430.1 + 0 1508 TGTCACGAATCTTGACAAATT 0.418000 4 63 0 0 1 0 0 PHF2 5253 broad.mit.edu 37 9 96408047 96408047 + Missense_Mutation SNP G G A TCGA-MT-A51W-01A-21D-A25Y-08 TCGA-MT-A51W-10A-01D-A25Y-08 Untested Somatic Phase_I WXS none Illumina GAIIx 644ad1be-542b-4ddc-af21-4f091e53e576 ec0c9bb4-63cf-4fa4-88ad-db1b39a86312 g.chr9:96408047G>A ENST00000359246.4 + 4 803 c.436G>A c.(436-438)Gtc>Atc p.V146I PHF2_ENST00000375376.4_Intron NM_005392.3 NP_005383.3 O75151 PHF2_HUMAN PHD finger protein 2 146 liver development|negative regulation of chromatin silencing at rDNA|transcription, DNA-dependent nucleolus histone demethylase activity (H3-K9 specific)|iron ion binding|methylated histone residue binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|zinc ion binding breast(1)|central_nervous_system(2)|endometrium(6)|large_intestine(9)|lung(14)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1) 40 Myeloproliferative disorder(762;0.0255) OV - Ovarian serous cystadenocarcinoma(323;9.11e-28) CACGTTCTATGTCAGTGACGT 0.622000 15 70 0 0 1 0 0 SPHK2 56848 broad.mit.edu 37 19 49131018 49131018 + Missense_Mutation SNP G G A TCGA-MT-A51W-01A-21D-A25Y-08 TCGA-MT-A51W-10A-01D-A25Y-08 Untested Somatic Phase_I WXS none Illumina GAIIx 644ad1be-542b-4ddc-af21-4f091e53e576 ec0c9bb4-63cf-4fa4-88ad-db1b39a86312 g.chr19:49131018G>A ENST00000443164.1 + 2 1472 c.767G>A c.(766-768)gGc>gAc p.G256D SPHK2_ENST00000245222.4_Missense_Mutation_p.G194D|SPHK2_ENST00000601712.1_Missense_Mutation_p.G158D|SPHK2_ENST00000600537.1_Missense_Mutation_p.G135D|SPHK2_ENST00000340932.3_Missense_Mutation_p.G158D|SPHK2_ENST00000599748.1_Missense_Mutation_p.G158D|SPHK2_ENST00000599029.1_Missense_Mutation_p.G158D|SPHK2_ENST00000598088.1_Missense_Mutation_p.G194D Q9NRA0 SPHK2_HUMAN sphingosine kinase 2 194 DAGKc. activation of protein kinase C activity by G-protein coupled receptor protein signaling pathway|anti-apoptosis|cell proliferation|sphinganine-1-phosphate biosynthetic process cytosol|lysosomal membrane|membrane fraction ATP binding|D-erythro-sphingosine kinase activity|diacylglycerol kinase activity|Ras GTPase binding|sphinganine kinase activity p.G194D(1) NS(1)|central_nervous_system(2)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(1)|lung(4)|prostate(2)|upper_aerodigestive_tract(2)|urinary_tract(2) 19 all_lung(116;0.000125)|Lung NSC(112;0.000202)|all_epithelial(76;0.000283)|all_neural(266;0.0506)|Ovarian(192;0.113) OV - Ovarian serous cystadenocarcinoma(262;0.000102)|all cancers(93;0.000117)|GBM - Glioblastoma multiforme(486;0.00627)|Epithelial(262;0.0158) GGGGGTCGGGGCCTGGCCTGG 0.592000 32 114 0 0 1 0 0 MYCL 4610 broad.mit.edu 37 1 40363463 40363463 + Missense_Mutation SNP C C G TCGA-MT-A51W-01A-21D-A25Y-08 TCGA-MT-A51W-10A-01D-A25Y-08 Untested Somatic Phase_I WXS none Illumina GAIIx 644ad1be-542b-4ddc-af21-4f091e53e576 ec0c9bb4-63cf-4fa4-88ad-db1b39a86312 g.chr1:40363463C>G ENST00000397332.2 - 3 890 c.766G>C c.(766-768)Gaa>Caa p.E256Q RP1-118J21.5_ENST00000418255.1_RNA|MYCL_ENST00000372816.2_Missense_Mutation_p.E226Q NM_001033081.2|NM_001033082.2 NP_001028253.1|NP_001028254.2 v-myc avian myelocytomatosis viral oncogene lung carcinoma derived homolog GAAGCCTCTTCTTGGGAGCAG 0.537000 34 180 0 0 1 0 0 DACT1 51339 broad.mit.edu 37 14 59113480 59113480 + Silent SNP C C T TCGA-MT-A51W-01A-21D-A25Y-08 TCGA-MT-A51W-10A-01D-A25Y-08 Untested Somatic Phase_I WXS none Illumina GAIIx 644ad1be-542b-4ddc-af21-4f091e53e576 ec0c9bb4-63cf-4fa4-88ad-db1b39a86312 g.chr14:59113480C>T ENST00000395153.3 + 4 2175 c.2028C>T c.(2026-2028)taC>taT p.Y676Y DACT1_ENST00000541264.2_Silent_p.Y432Y|DACT1_ENST00000556859.1_Silent_p.Y432Y|DACT1_ENST00000335867.4_Silent_p.Y713Y|DACT1_ENST00000395151.3_Silent_p.Y432Y NM_001079520.1|NM_016651.5 NP_001072988.1|NP_057735.2 Q9NYF0 DACT1_HUMAN dishevelled-binding antagonist of beta-catenin 1 713 multicellular organismal development|Wnt receptor signaling pathway cytoplasm|nucleus endometrium(7)|kidney(3)|large_intestine(11)|lung(27)|ovary(1)|prostate(3)|upper_aerodigestive_tract(1) 53 CTCTGCCCTACGCCAGCCCCT 0.672000 14 64 0 0 1 0 0 C3orf30 152405 broad.mit.edu 37 3 118865466 118865466 + Missense_Mutation SNP G G A TCGA-MT-A51W-01A-21D-A25Y-08 TCGA-MT-A51W-10A-01D-A25Y-08 Untested Somatic Phase_I WXS none Illumina GAIIx 644ad1be-542b-4ddc-af21-4f091e53e576 ec0c9bb4-63cf-4fa4-88ad-db1b39a86312 g.chr3:118865466G>A ENST00000295622.1 + 1 470 c.430G>A c.(430-432)Gaa>Aaa p.E144K NM_152539.2 NP_689752.2 Q96M34 CC030_HUMAN chromosome 3 open reading frame 30 144 NS(1)|breast(1)|cervix(1)|endometrium(1)|large_intestine(6)|lung(20)|ovary(2)|prostate(1)|urinary_tract(1) 34 GBM - Glioblastoma multiforme(114;0.222) AAGAACTGCTGAACAGACTGA 0.488000 13 55 0 0 1 0 0 SRCAP 10847 broad.mit.edu 37 16 30750523 30750523 + Silent SNP C C G TCGA-MT-A51W-01A-21D-A25Y-08 TCGA-MT-A51W-10A-01D-A25Y-08 Untested Somatic Phase_I WXS none Illumina GAIIx 644ad1be-542b-4ddc-af21-4f091e53e576 ec0c9bb4-63cf-4fa4-88ad-db1b39a86312 g.chr16:30750523C>G ENST00000262518.4 + 34 9547 c.9162C>G c.(9160-9162)tcC>tcG p.S3054S SRCAP_ENST00000395059.2_Silent_p.S2992S|SRCAP_ENST00000344771.4_Silent_p.S2896S NM_006662.2 NP_006653.2 Q6ZRS2 SRCAP_HUMAN Snf2-related CREBBP activator protein 3054 interspecies interaction between organisms|regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent Golgi apparatus|nucleus|protein complex ATP binding|DNA binding|helicase activity|histone acetyltransferase activity|transcription coactivator activity NS(1)|breast(3)|cervix(3)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(22)|liver(3)|lung(62)|ovary(6)|pancreas(1)|prostate(4)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(5) 136 Colorectal(24;0.198) AGGGTAGTTCCTCTGATGAGG 0.632000 12 48 0 0 1 0 0 CATSPER2P1 440278 broad.mit.edu 37 15 44029016 44029016 + RNA SNP C C G TCGA-MT-A51W-01A-21D-A25Y-08 TCGA-MT-A51W-10A-01D-A25Y-08 Untested Somatic Phase_I WXS none Illumina GAIIx 644ad1be-542b-4ddc-af21-4f091e53e576 ec0c9bb4-63cf-4fa4-88ad-db1b39a86312 g.chr15:44029016C>G ENST00000381680.2 - 0 768 NR_002318.2 AACGAACCCTCAGGATCTCTA 0.368000 19 62 0 0 1 0 0 SNRNP25 79622 broad.mit.edu 37 16 107117 107117 + Missense_Mutation SNP T T C TCGA-MT-A51W-01A-21D-A25Y-08 TCGA-MT-A51W-10A-01D-A25Y-08 Untested Somatic Phase_I WXS none Illumina GAIIx 644ad1be-542b-4ddc-af21-4f091e53e576 ec0c9bb4-63cf-4fa4-88ad-db1b39a86312 g.chr16:107117T>C ENST00000383018.3 + 5 534 c.373T>C c.(373-375)Ttc>Ctc p.F125L NM_024571.3 NP_078847.1 Q9BV90 SNR25_HUMAN small nuclear ribonucleoprotein 25kDa (U11/U12) 125 Ubiquitin-like. mRNA processing U12-type spliceosomal complex large_intestine(1)|lung(2) 3 CGAGGTTTCCTTCATCAAAAA 0.507000 37 150 0 0 1 0 0 CHAT 1103 broad.mit.edu 37 10 50863262 50863262 + Missense_Mutation SNP G G T TCGA-MT-A51W-01A-21D-A25Y-08 TCGA-MT-A51W-10A-01D-A25Y-08 Untested Somatic Phase_I WXS none Illumina GAIIx 644ad1be-542b-4ddc-af21-4f091e53e576 ec0c9bb4-63cf-4fa4-88ad-db1b39a86312 g.chr10:50863262G>T ENST00000395562.2 + 13 1979 c.1510G>T c.(1510-1512)Gac>Tac p.D504Y CHAT_ENST00000351556.3_Missense_Mutation_p.D468Y|CHAT_ENST00000339797.1_Missense_Mutation_p.D468Y|CHAT_ENST00000337653.2_Missense_Mutation_p.D586Y|CHAT_ENST00000455728.2_Missense_Mutation_p.D468Y|CHAT_ENST00000395559.2_Missense_Mutation_p.D468Y NM_001142933.1|NM_001142934.1 NP_001136405.1|NP_001136406.1 P28329 CLAT_HUMAN choline O-acetyltransferase 586 neurotransmitter biosynthetic process|neurotransmitter secretion cytosol|nucleus choline O-acetyltransferase activity central_nervous_system(3)|endometrium(2)|kidney(2)|large_intestine(11)|lung(34)|prostate(3)|urinary_tract(1) 56 all_neural(218;0.107) GBM - Glioblastoma multiforme(2;0.000585) Choline(DB00122) AGCCGTGACTGACCACAAGGC 0.637000 10 116 2.17888e-05 2.30338e-05 1 1 0 DLX3 1747 broad.mit.edu 37 17 48072347 48072347 + Missense_Mutation SNP C C A TCGA-MT-A51W-01A-21D-A25Y-08 TCGA-MT-A51W-10A-01D-A25Y-08 Untested Somatic Phase_I WXS none Illumina GAIIx 644ad1be-542b-4ddc-af21-4f091e53e576 ec0c9bb4-63cf-4fa4-88ad-db1b39a86312 g.chr17:48072347C>A ENST00000434704.2 - 1 241 c.16G>T c.(16-18)Gat>Tat p.D6Y NM_005220.2 NP_005211.1 O60479 DLX3_HUMAN distal-less homeobox 3 6 nucleus sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(4)|upper_aerodigestive_tract(1)|urinary_tract(2) 12 AGCTTGCGATCGAAGGAGCCA 0.647000 5 30 0.00116845 0.0012009 1 1 0 EYS 346007 broad.mit.edu 37 6 66054005 66054005 + Missense_Mutation SNP C C T TCGA-MT-A51W-01A-21D-A25Y-08 TCGA-MT-A51W-10A-01D-A25Y-08 Untested Somatic Phase_I WXS none Illumina GAIIx 644ad1be-542b-4ddc-af21-4f091e53e576 ec0c9bb4-63cf-4fa4-88ad-db1b39a86312 g.chr6:66054005C>T ENST00000503581.1 - 10 2062 c.1525G>A c.(1525-1527)Gaa>Aaa p.E509K EYS_ENST00000370621.3_Missense_Mutation_p.E509K|EYS_ENST00000393380.2_Missense_Mutation_p.E509K|EYS_ENST00000370616.2_Missense_Mutation_p.E509K|EYS_ENST00000370618.3_Missense_Mutation_p.E509K|EYS_ENST00000342421.5_Missense_Mutation_p.E509K NM_001142800.1 NP_001136272.1 Q5T1H1 EYS_HUMAN eyes shut homolog (Drosophila) 509 response to stimulus|visual perception extracellular region calcium ion binding breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(12)|lung(42)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(3) 69 GTTGCATCTTCAGTGCAGTTT 0.353000 7 76 0 0 1 0 0 NEK7 140609 broad.mit.edu 37 1 198288545 198288545 + Nonsense_Mutation SNP C C T TCGA-MT-A51W-01A-21D-A25Y-08 TCGA-MT-A51W-10A-01D-A25Y-08 Untested Somatic Phase_I WXS none Illumina GAIIx 644ad1be-542b-4ddc-af21-4f091e53e576 ec0c9bb4-63cf-4fa4-88ad-db1b39a86312 g.chr1:198288545C>T ENST00000367385.4 + 10 1144 c.802C>T c.(802-804)Cga>Tga p.R268* NEK7_ENST00000538004.1_Nonsense_Mutation_p.R268* NM_133494.2 NP_598001.1 Q8TDX7 NEK7_HUMAN NIMA-related kinase 7 268 Protein kinase. cytoplasm ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity endometrium(3)|kidney(2)|large_intestine(5)|lung(2)|ovary(1)|pancreas(1)|prostate(3)|skin(1)|stomach(2)|upper_aerodigestive_tract(1) 21 TTCACAGCTCCGACAGTTAGT 0.378000 3 27 0 0 1 0 0 ZBTB24 9841 broad.mit.edu 37 6 109787621 109787622 + Frame_Shift_Ins INS - - A TCGA-MT-A51W-01A-21D-A25Y-08 TCGA-MT-A51W-10A-01D-A25Y-08 Untested Somatic Phase_I WXS none Illumina GAIIx 644ad1be-542b-4ddc-af21-4f091e53e576 ec0c9bb4-63cf-4fa4-88ad-db1b39a86312 g.chr6:109787621_109787622insA ENST00000230122.3 - 7 1693_1694 c.1526_1527insT c.(1525-1527)taafs p.*509fs NM_001164313.1|NM_014797.2 NP_001157785.1|NP_055612.2 O43167 ZBT24_HUMAN zinc finger and BTB domain containing 24 509 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|protein binding|zinc ion binding breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(6)|lung(9)|ovary(1)|pancreas(1)|skin(1)|stomach(1) 22 all_cancers(87;0.000189)|Acute lymphoblastic leukemia(125;3.07e-08)|all_hematologic(75;3.33e-06)|all_epithelial(87;0.00686)|Lung SC(18;0.0743)|Colorectal(196;0.101)|all_lung(197;0.149) Epithelial(106;0.0154)|all cancers(137;0.0216)|OV - Ovarian serous cystadenocarcinoma(136;0.0242)|BRCA - Breast invasive adenocarcinoma(108;0.059) TATGAATTTTCAAGTGAGCCTT 0.450 27 112 --- --- --- --- CBWD3 445571 broad.mit.edu 37 9 70900911 70900912 + Frame_Shift_Ins INS - - A TCGA-MT-A51W-01A-21D-A25Y-08 TCGA-MT-A51W-10A-01D-A25Y-08 Untested Somatic Phase_I WXS none Illumina GAIIx 644ad1be-542b-4ddc-af21-4f091e53e576 ec0c9bb4-63cf-4fa4-88ad-db1b39a86312 g.chr9:70900911_70900912insA ENST00000360171.6 + 11 1322_1323 c.771_772insA c.(769-774)caaaaafs p.QK257fs CBWD3_ENST00000377342.5_Frame_Shift_Ins_p.QK237fs NM_201453.2 NP_958861.2 Q5JTY5 CBWD3_HUMAN COBW domain containing 3 257 ATP binding kidney(1)|large_intestine(1)|lung(2)|prostate(1) 5 all cancers(8;0.00136)|Epithelial(8;0.0288)|GBM - Glioblastoma multiforme(74;0.0402)|OV - Ovarian serous cystadenocarcinoma(323;0.18) TTAGTTTGCAGAAAAAACTTCA 0.317 5 4 --- --- --- --- YME1L1 10730 broad.mit.edu 37 10 27408260 27408261 + Frame_Shift_Ins INS - - A TCGA-MT-A51W-01A-21D-A25Y-08 TCGA-MT-A51W-10A-01D-A25Y-08 Untested Somatic Phase_I WXS none Illumina GAIIx 644ad1be-542b-4ddc-af21-4f091e53e576 ec0c9bb4-63cf-4fa4-88ad-db1b39a86312 g.chr10:27408260_27408261insA ENST00000326799.3 - 15 1848_1849 c.1700_1701insT c.(1699-1701)aaafs p.K567fs YME1L1_ENST00000375972.3_Frame_Shift_Ins_p.K477fs|YME1L1_ENST00000376016.3_Frame_Shift_Ins_p.K510fs NM_139312.2 NP_647473.1 Q96TA2 YMEL1_HUMAN YME1-like 1 ATPase 567 protein catabolic process|proteolysis membrane|mitochondrion ATP binding|metal ion binding|metalloendopeptidase activity|nucleoside-triphosphatase activity breast(1)|endometrium(2)|kidney(4)|large_intestine(6)|lung(6)|ovary(1)|skin(2)|upper_aerodigestive_tract(1) 23 CCAGCTCCTTCATGGTAACCAT 0.386 26 120 --- --- --- --- ACTN3 89 broad.mit.edu 37 11 66321927 66321928 + RNA INS - - A rs141435934 TCGA-MT-A51W-01A-21D-A25Y-08 TCGA-MT-A51W-10A-01D-A25Y-08 Untested Somatic Phase_I WXS none Illumina GAIIx 644ad1be-542b-4ddc-af21-4f091e53e576 ec0c9bb4-63cf-4fa4-88ad-db1b39a86312 g.chr11:66321927_66321928insA ENST00000513398.1 + 0 566 ACTN3_ENST00000502692.1_RNA NM_001104.2 NP_001095.1 Q08043 ACTN3_HUMAN actinin, alpha 3 (gene/pseudogene) focal adhesion assembly|muscle filament sliding|regulation of apoptosis actin filament|cytosol|focal adhesion|pseudopodium actin binding|calcium ion binding|integrin binding|protein homodimerization activity|structural constituent of muscle breast(1)|endometrium(4)|kidney(1)|large_intestine(2)|lung(2) 10 gaccctgtctcaaaaaaaaaaa 0.540 3 5 --- --- --- --- PRB2 653247 broad.mit.edu 37 12 11546788 11546790 + In_Frame_Del DEL GGA GGA - TCGA-MT-A51W-01A-21D-A25Y-08 TCGA-MT-A51W-10A-01D-A25Y-08 Untested Somatic Phase_I WXS none Illumina GAIIx 644ad1be-542b-4ddc-af21-4f091e53e576 ec0c9bb4-63cf-4fa4-88ad-db1b39a86312 g.chr12:11546788_11546790delGGA ENST00000389362.4 - 3 257_259 c.222_224delTCC c.(220-225)cca>cc p.PP74del PRB1_ENST00000546254.1_Intron NM_006248.3 NP_006239.3 proline-rich protein BstNI subfamily 2 NS(1)|breast(1)|endometrium(2)|kidney(3)|large_intestine(3)|lung(14)|pancreas(1)|prostate(5)|skin(4)|stomach(2)|urinary_tract(1) 37 all_cancers(2;0.00558)|Acute lymphoblastic leukemia(2;3.94e-11)|all_hematologic(2;3.6e-09) OV - Ovarian serous cystadenocarcinoma(49;0.185) TGGCTTTCCTGGAGGAGGTGGGG 0.601 7 566 --- --- --- --- DHRS4 10901 broad.mit.edu 37 14 24424399 24424400 + Frame_Shift_Ins INS - - C TCGA-MT-A51W-01A-21D-A25Y-08 TCGA-MT-A51W-10A-01D-A25Y-08 Untested Somatic Phase_I WXS none Illumina GAIIx 644ad1be-542b-4ddc-af21-4f091e53e576 ec0c9bb4-63cf-4fa4-88ad-db1b39a86312 g.chr14:24424399_24424400insC ENST00000313250.5 + 2 487_488 c.284_285insC c.(283-285)gcgfs p.A95fs DHRS4_ENST00000558581.1_Frame_Shift_Ins_p.A95fs|DHRS4_ENST00000558263.1_Frame_Shift_Ins_p.A95fs|DHRS4_ENST00000397073.2_Frame_Shift_Ins_p.A77fs|DHRS4_ENST00000543741.2_Frame_Shift_Ins_p.A95fs|DHRS4_ENST00000421831.1_Frame_Shift_Ins_p.A77fs|DHRS4_ENST00000397074.3_Frame_Shift_Ins_p.A95fs|DHRS4_ENST00000397075.3_Frame_Shift_Ins_p.A95fs|DHRS4_ENST00000382761.3_Frame_Shift_Ins_p.A77fs|DHRS4_ENST00000308178.8_Frame_Shift_Ins_p.A77fs|DHRS4_ENST00000559632.1_Frame_Shift_Ins_p.A95fs NM_021004.2 NP_066284.2 Q9BTZ2 DHRS4_HUMAN dehydrogenase/reductase (SDR family) member 4 95 mitochondrion|nuclear membrane|peroxisome binding|carbonyl reductase (NADPH) activity central_nervous_system(2)|endometrium(1)|kidney(3)|large_intestine(1)|lung(4)|ovary(1)|skin(1)|upper_aerodigestive_tract(1) 14 GBM - Glioblastoma multiforme(265;0.00962) Vitamin A(DB00162) AAGGCGGAGGACCGGGAGCGGC 0.668 7 51 --- --- --- --- RRN3P1 730092 broad.mit.edu 37 16 21817398 21817399 + RNA INS - - A rs144931984 by1000genomes TCGA-MT-A51W-01A-21D-A25Y-08 TCGA-MT-A51W-10A-01D-A25Y-08 Untested Somatic Phase_I WXS none Illumina GAIIx 644ad1be-542b-4ddc-af21-4f091e53e576 ec0c9bb4-63cf-4fa4-88ad-db1b39a86312 g.chr16:21817398_21817399insA ENST00000546471.1 - 0 1607 TAAATGaaaataaaaaaataaa 0.302 3 4 --- --- --- --- SUZ12P1 440423 broad.mit.edu 37 17 29062327 29062327 + RNA DEL T T - TCGA-MT-A51W-01A-21D-A25Y-08 TCGA-MT-A51W-10A-01D-A25Y-08 Untested Somatic Phase_I WXS none Illumina GAIIx 644ad1be-542b-4ddc-af21-4f091e53e576 ec0c9bb4-63cf-4fa4-88ad-db1b39a86312 g.chr17:29062327delT ENST00000582557.1 + 0 946 TGTTATTAGCTTTTTTTTTTT 0.408 2 4 --- --- --- ---