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 KIAA1211 57482 broad.mit.edu 37 4 57189582 57189582 + Missense_Mutation SNP C C G TCGA-67-6216-01A-11D-1753-08 TCGA-67-6216-10A-01D-1753-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6dc6da8c-2ecf-412f-b2c4-74529adb7c0f c76da76a-6d03-4c51-94ed-b333c1be8ca1 g.chr4:57189582C>G ENST00000504228.1 + 7 3332 c.3227C>G c.(3226-3228)tCc>tGc p.S1076C KIAA1211_ENST00000541073.1_Missense_Mutation_p.S1069C|KIAA1211_ENST00000264229.6_Missense_Mutation_p.S1076C Q6ZU35 K1211_HUMAN KIAA1211 1076 p.S1076C(1) endometrium(7)|large_intestine(10)|lung(39)|ovary(2)|prostate(3)|skin(3)|stomach(1) 65 Glioma(25;0.08)|all_neural(26;0.101) TTAGATGGCTCCAAACTTACA 0.507000 4 40 0 0 0.184627 0 0 ARHGAP21 57584 broad.mit.edu 37 10 24896491 24896491 + Missense_Mutation SNP G G A TCGA-67-6216-01A-11D-1753-08 TCGA-67-6216-10A-01D-1753-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6dc6da8c-2ecf-412f-b2c4-74529adb7c0f c76da76a-6d03-4c51-94ed-b333c1be8ca1 g.chr10:24896491G>A ENST00000396432.2 - 11 3107 c.2621C>T c.(2620-2622)tCa>tTa p.S874L ARHGAP21_ENST00000320481.6_Missense_Mutation_p.S661L|ARHGAP21_ENST00000493154.1_5'UTR NM_020824.3 NP_065875.3 Q5T5U3 RHG21_HUMAN Rho GTPase activating protein 21 873 signal transduction cell junction|cytoplasmic vesicle membrane|cytoskeleton|Golgi membrane GTPase activator activity|protein binding p.S873L(1) NS(1)|breast(4)|central_nervous_system(1)|cervix(1)|endometrium(11)|kidney(4)|large_intestine(17)|lung(21)|ovary(7)|pancreas(1)|prostate(5)|skin(2)|stomach(2)|urinary_tract(1) 78 TTCTGTCTTTGAGTTGGGCTG 0.358000 4 114 0 0 0.184627 0 0 DSCR9 257203 broad.mit.edu 37 21 38593890 38593890 + RNA SNP C C T TCGA-67-6216-01A-11D-1753-08 TCGA-67-6216-10A-01D-1753-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6dc6da8c-2ecf-412f-b2c4-74529adb7c0f c76da76a-6d03-4c51-94ed-b333c1be8ca1 g.chr21:38593890C>T ENST00000454482.2 + 0 1497 AP001432.14_ENST00000440629.1_lincRNA NR_026719.2 CACCAAGACTCCAGAGCAGGT 0.517000 4 63 0 0 0.150653 0 0 FERMT3 83706 broad.mit.edu 37 11 63990575 63990575 + Missense_Mutation SNP C C T TCGA-67-6216-01A-11D-1753-08 TCGA-67-6216-10A-01D-1753-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6dc6da8c-2ecf-412f-b2c4-74529adb7c0f c76da76a-6d03-4c51-94ed-b333c1be8ca1 g.chr11:63990575C>T ENST00000279227.5 + 14 1833 c.1738C>T c.(1738-1740)Cgc>Tgc p.R580C FERMT3_ENST00000345728.5_Missense_Mutation_p.R576C NM_178443.2 NP_848537.1 Q86UX7 URP2_HUMAN fermitin family member 3 580 integrin activation|leukocyte cell-cell adhesion|platelet aggregation|regulation of cell-cell adhesion mediated by integrin cell junction|cell projection|podosome integrin binding p.R580C(1)|p.R576C(1) breast(1)|cervix(1)|endometrium(4)|large_intestine(2)|lung(6)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1) 18 CCGACTGATCCGCATCGACTT 0.627000 6 61 0 0 0.021553 0 0 KANK1 23189 broad.mit.edu 37 9 732583 732583 + Missense_Mutation SNP G G A TCGA-67-6216-01A-11D-1753-08 TCGA-67-6216-10A-01D-1753-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6dc6da8c-2ecf-412f-b2c4-74529adb7c0f c76da76a-6d03-4c51-94ed-b333c1be8ca1 g.chr9:732583G>A ENST00000382303.1 + 10 3863 c.3211G>A c.(3211-3213)Gaa>Aaa p.E1071K KANK1_ENST00000382297.2_Missense_Mutation_p.E1071K|KANK1_ENST00000382293.3_Missense_Mutation_p.E913K|KANK1_ENST00000489369.1_3'UTR NM_001256876.1 NP_001243805.1 Q14678 KANK1_HUMAN KN motif and ankyrin repeat domains 1 1071 negative regulation of actin filament polymerization cytoplasm p.E913K(1)|p.E1071K(1) autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(7)|kidney(3)|large_intestine(9)|lung(8)|ovary(3)|pancreas(1)|prostate(3)|stomach(4)|upper_aerodigestive_tract(1) 43 Lung NSC(10;9.84e-12)|all_lung(10;1.02e-11)|Breast(48;0.128) Epithelial(6;0.000153)|OV - Ovarian serous cystadenocarcinoma(1;0.000358)|Lung(218;0.0222) GCAGGTTCAAGAATGTGAACC 0.488000 4 64 0 0 0.150653 0 0 CRYBB1 1414 broad.mit.edu 37 22 27012195 27012195 + Missense_Mutation SNP C C T TCGA-67-6216-01A-11D-1753-08 TCGA-67-6216-10A-01D-1753-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6dc6da8c-2ecf-412f-b2c4-74529adb7c0f c76da76a-6d03-4c51-94ed-b333c1be8ca1 g.chr22:27012195C>T ENST00000215939.2 - 2 219 c.89G>A c.(88-90)gGa>gAa p.G30E NM_001887.3 NP_001878.1 P53674 CRBB1_HUMAN crystallin, beta B1 30 N-terminal arm. visual perception structural constituent of eye lens p.G30E(1) breast(1)|endometrium(4)|large_intestine(8)|lung(8)|ovary(1)|prostate(3)|skin(2)|urinary_tract(4) 31 AGGGGATGTTCCTGCAGGTGG 0.657000 5 86 0 0 0.029380 0 0 COL4A4 1286 broad.mit.edu 37 2 227886814 227886814 + Missense_Mutation SNP C C T TCGA-67-6216-01A-11D-1753-08 TCGA-67-6216-10A-01D-1753-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6dc6da8c-2ecf-412f-b2c4-74529adb7c0f c76da76a-6d03-4c51-94ed-b333c1be8ca1 g.chr2:227886814C>T ENST00000396625.3 - 44 4373 c.4166G>A c.(4165-4167)gGa>gAa p.G1389E COL4A4_ENST00000329662.7_Missense_Mutation_p.G1386E NM_000092.4 NP_000083.3 P53420 CO4A4_HUMAN collagen, type IV, alpha 4 1389 Triple-helical region. axon guidance|glomerular basement membrane development basal lamina|collagen type IV extracellular matrix structural constituent|protein binding p.G1389E(1) breast(2)|central_nervous_system(3)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(15)|lung(35)|ovary(5)|pancreas(3)|prostate(2)|skin(12)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(3) 98 Renal(207;0.00844)|all_lung(227;0.0187)|Lung NSC(271;0.0879)|all_hematologic(139;0.21)|Esophageal squamous(248;0.242) Epithelial(121;6.7e-11)|all cancers(144;5.39e-08)|Lung(261;0.0132)|LUSC - Lung squamous cell carcinoma(224;0.0181) TCCTTCTGGTCCTCTCATGCC 0.547000 7 200 0 0 0.029380 0 0 MYCT1 80177 broad.mit.edu 37 6 153043209 153043209 + Missense_Mutation SNP C C T TCGA-67-6216-01A-11D-1753-08 TCGA-67-6216-10A-01D-1753-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6dc6da8c-2ecf-412f-b2c4-74529adb7c0f c76da76a-6d03-4c51-94ed-b333c1be8ca1 g.chr6:153043209C>T ENST00000367245.5 + 2 537 c.529C>T c.(529-531)Cct>Tct p.P177S MYCT1_ENST00000529453.1_Intron NM_025107.2 NP_079383.2 Q8N699 MYCT1_HUMAN myc target 1 177 nucleus p.P177S(2) NS(1)|breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(7)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1) 20 Ovarian(120;0.0654) OV - Ovarian serous cystadenocarcinoma(155;1.33e-10)|BRCA - Breast invasive adenocarcinoma(81;0.143) TCCACCACTTCCTGTGGAAAC 0.493000 10 58 0 0 0.080935 0 0 NFS1 9054 broad.mit.edu 37 20 34260738 34260738 + Missense_Mutation SNP C C G TCGA-67-6216-01A-11D-1753-08 TCGA-67-6216-10A-01D-1753-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6dc6da8c-2ecf-412f-b2c4-74529adb7c0f c76da76a-6d03-4c51-94ed-b333c1be8ca1 g.chr20:34260738C>G ENST00000374092.4 - 12 1319 c.1249G>C c.(1249-1251)Gag>Cag p.E417Q NFS1_ENST00000374085.1_Missense_Mutation_p.E357Q|NFS1_ENST00000397425.1_Missense_Mutation_p.E357Q|NFS1_ENST00000541387.1_Missense_Mutation_p.E366Q|NFS1_ENST00000540053.1_Missense_Mutation_p.E215Q|NFS1_ENST00000498084.1_5'UTR NM_021100.4 NP_066923.3 Q9Y697 NFS1_HUMAN NFS1 cysteine desulfurase 417 cysteine metabolic process|iron incorporation into metallo-sulfur cluster|Mo-molybdopterin cofactor biosynthetic process|protein complex assembly|water-soluble vitamin metabolic process cytosol|mitochondrial matrix|nucleus cysteine desulfurase activity|protein homodimerization activity|pyridoxal phosphate binding p.E417Q(1) central_nervous_system(1)|kidney(2)|large_intestine(2)|lung(8)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2) 18 Lung NSC(9;0.00608)|all_lung(11;0.00918) BRCA - Breast invasive adenocarcinoma(18;0.0886) L-Alanine(DB00160)|L-Cysteine(DB00151)|Pyridoxal Phosphate(DB00114) TCCACTTCCTCCTCTGTAGTG 0.453000 3 55 0 0 0.115264 0 0 PTBP1 5725 broad.mit.edu 37 19 803570 803570 + Missense_Mutation SNP G G A TCGA-67-6216-01A-11D-1753-08 TCGA-67-6216-10A-01D-1753-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6dc6da8c-2ecf-412f-b2c4-74529adb7c0f c76da76a-6d03-4c51-94ed-b333c1be8ca1 g.chr19:803570G>A ENST00000356948.6 + 3 472 c.49G>A c.(49-51)Gac>Aac p.D17N PTBP1_ENST00000394601.4_Missense_Mutation_p.D17N|PTBP1_ENST00000350092.4_Intron|PTBP1_ENST00000349038.4_Missense_Mutation_p.D17N NM_002819.4 NP_002810.1 P26599 PTBP1_HUMAN polypyrimidine tract binding protein 1 17 negative regulation of muscle cell differentiation|nuclear mRNA splicing, via spliceosome|regulation of alternative nuclear mRNA splicing, via spliceosome heterogeneous nuclear ribonucleoprotein complex|nucleolus|nucleoplasm mRNA binding|nucleotide binding|poly-pyrimidine tract binding|protein binding p.D17N(1) NS(1)|breast(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(4)|ovary(1)|skin(2)|upper_aerodigestive_tract(4) 19 Acute lymphoblastic leukemia(61;2.53e-14)|all_hematologic(61;8.18e-10)|Lung NSC(49;6.59e-06)|all_lung(49;9.97e-06)|Breast(49;0.000172)|Hepatocellular(1079;0.137)|Renal(1328;0.228) 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) GCGGGGATCTGACGAGCTTTT 0.627000 6 70 0 0 0.047766 0 0 USH2A 7399 broad.mit.edu 37 1 216419957 216419957 + Nonsense_Mutation SNP G G A TCGA-67-6216-01A-11D-1753-08 TCGA-67-6216-10A-01D-1753-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6dc6da8c-2ecf-412f-b2c4-74529adb7c0f c76da76a-6d03-4c51-94ed-b333c1be8ca1 g.chr1:216419957G>A ENST00000366943.2 - 13 3165 c.2779C>T c.(2779-2781)Caa>Taa p.Q927* USH2A_ENST00000307340.3_Nonsense_Mutation_p.Q927*|USH2A_ENST00000366942.3_Nonsense_Mutation_p.Q927* O75445 USH2A_HUMAN Usher syndrome 2A (autosomal recessive, mild) 927 Laminin EGF-like 8. maintenance of organ identity|photoreceptor cell maintenance|response to stimulus|sensory perception of sound basement membrane|cytoplasm|integral to membrane|stereocilium membrane collagen binding p.Q927*(1) NS(7)|breast(20)|central_nervous_system(3)|cervix(2)|endometrium(32)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(71)|liver(2)|lung(282)|ovary(25)|pancreas(2)|prostate(12)|skin(22)|stomach(7)|upper_aerodigestive_tract(20)|urinary_tract(3) 527 OV - Ovarian serous cystadenocarcinoma(81;0.0547)|all cancers(67;0.0875) CTTCTTCCTTGACGATTAGGC 0.433000 HNSCC(13;0.011) 6 117 0 0 0.029380 0 0 TRIP4 9325 broad.mit.edu 37 15 64717779 64717779 + Silent SNP G G T TCGA-67-6216-01A-11D-1753-08 TCGA-67-6216-10A-01D-1753-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6dc6da8c-2ecf-412f-b2c4-74529adb7c0f c76da76a-6d03-4c51-94ed-b333c1be8ca1 g.chr15:64717779G>T ENST00000261884.3 + 11 1584 c.1524G>T c.(1522-1524)ctG>ctT p.L508L NM_016213.4 NP_057297.2 Q15650 TRIP4_HUMAN thyroid hormone receptor interactor 4 508 positive regulation of transcription, DNA-dependent|transcription from RNA polymerase II promoter cytoplasm|nucleus ligand-dependent nuclear receptor binding|transcription coactivator activity|zinc ion binding p.L508L(2) breast(2)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(5)|lung(5)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1) 21 GTTGTCTTCTGGGCTGTGTGG 0.383000 35 106 9.73076e-26 1.0866e-25 0.092188 1 0 SHPRH 257218 broad.mit.edu 37 6 146266576 146266576 + Missense_Mutation SNP T T A TCGA-67-6216-01A-11D-1753-08 TCGA-67-6216-10A-01D-1753-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6dc6da8c-2ecf-412f-b2c4-74529adb7c0f c76da76a-6d03-4c51-94ed-b333c1be8ca1 g.chr6:146266576T>A ENST00000367503.3 - 8 1917 c.1519A>T c.(1519-1521)Act>Tct p.T507S SHPRH_ENST00000275233.7_Missense_Mutation_p.T507S|SHPRH_ENST00000438092.2_Missense_Mutation_p.T507S|SHPRH_ENST00000367505.2_Missense_Mutation_p.T507S NM_001042683.2 NP_001036148.2 Q149N8 SHPRH_HUMAN SNF2 histone linker PHD RING helicase, E3 ubiquitin protein ligase 507 H15. DNA repair|nucleosome assembly nucleosome|nucleus ATP binding|DNA binding|helicase activity|ligase activity|zinc ion binding p.T507S(1) breast(2)|central_nervous_system(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(15)|lung(33)|ovary(3)|pancreas(2)|prostate(7)|skin(1)|urinary_tract(1) 79 Ovarian(120;0.0365) OV - Ovarian serous cystadenocarcinoma(155;1.47e-07)|GBM - Glioblastoma multiforme(68;0.0124) AATGTAAAAGTCCCAGAAAAA 0.358000 6 74 0 0 0.021553 0 0 QRICH1 54870 broad.mit.edu 37 3 49095083 49095083 + Nonsense_Mutation SNP C C A TCGA-67-6216-01A-11D-1753-08 TCGA-67-6216-10A-01D-1753-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6dc6da8c-2ecf-412f-b2c4-74529adb7c0f c76da76a-6d03-4c51-94ed-b333c1be8ca1 g.chr3:49095083C>A ENST00000395443.2 - 3 1022 c.550G>T c.(550-552)Gaa>Taa p.E184* QRICH1_ENST00000479449.1_Intron|QRICH1_ENST00000424300.1_Nonsense_Mutation_p.E184*|QRICH1_ENST00000357496.2_Nonsense_Mutation_p.E184* NM_198880.1 NP_942581.1 Q2TAL8 QRIC1_HUMAN glutamine-rich 1 184 Gln-rich. p.E184*(1) breast(2)|endometrium(5)|large_intestine(8)|lung(8)|ovary(1)|skin(1) 25 BRCA - Breast invasive adenocarcinoma(193;8.88e-05)|Kidney(197;0.00239)|KIRC - Kidney renal clear cell carcinoma(197;0.00258) TCCGGGATTTCTGCAGCCTGG 0.602000 5 66 0.00116845 0.00124263 0.021553 1 0 ABCC9 10060 broad.mit.edu 37 12 22068751 22068751 + Silent SNP G G A TCGA-67-6216-01A-11D-1753-08 TCGA-67-6216-10A-01D-1753-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6dc6da8c-2ecf-412f-b2c4-74529adb7c0f c76da76a-6d03-4c51-94ed-b333c1be8ca1 g.chr12:22068751G>A ENST00000261200.4 - 5 666 c.667C>T c.(667-669)Ctg>Ttg p.L223L ABCC9_ENST00000261201.4_Silent_p.L223L|ABCC9_ENST00000345162.2_Silent_p.L223L NM_020297.2 NP_064693.2 O60706 ABCC9_HUMAN ATP-binding cassette, sub-family C (CFTR/MRP), member 9 223 defense response to virus|potassium ion import ATP-sensitive potassium channel complex ATP binding|ATPase activity, coupled to transmembrane movement of substances|potassium channel regulator activity|sulfonylurea receptor activity p.L223L(2) NS(2)|breast(5)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(15)|lung(56)|ovary(4)|pancreas(1)|prostate(4)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(5) 118 Adenosine triphosphate(DB00171)|Glibenclamide(DB01016) GCTTTTGACAGCAAATTCACA 0.393000 3 79 0 0 0.115264 0 0 MLST8 64223 broad.mit.edu 37 16 2258828 2258828 + Missense_Mutation SNP C C T TCGA-67-6216-01A-11D-1753-08 TCGA-67-6216-10A-01D-1753-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6dc6da8c-2ecf-412f-b2c4-74529adb7c0f c76da76a-6d03-4c51-94ed-b333c1be8ca1 g.chr16:2258828C>T ENST00000569417.1 + 9 1285 c.931C>T c.(931-933)Cac>Tac p.H311Y MLST8_ENST00000565250.1_Missense_Mutation_p.H311Y|MLST8_ENST00000382450.4_Missense_Mutation_p.H310Y|MLST8_ENST00000564088.1_Missense_Mutation_p.H311Y|MLST8_ENST00000301724.10_3'UTR|MLST8_ENST00000397124.1_Missense_Mutation_p.H311Y|MLST8_ENST00000301725.7_3'UTR NM_022372.4 NP_071767.3 Q9BVC4 LST8_HUMAN MTOR associated protein, LST8 homolog (S. cerevisiae) 311 insulin receptor signaling pathway|nerve growth factor receptor signaling pathway|phosphatidylinositol-mediated signaling|positive regulation of TOR signaling cascade|T cell costimulation cytosol protein binding p.H311Y(1) large_intestine(3)|lung(2)|skin(1) 6 GTATGGCGGCCACCAGAAGGC 0.622000 16 197 0 0 0.175082 0 0 SERPINF1 5176 broad.mit.edu 37 17 1675167 1675167 + Splice_Site SNP G G A rs138341386 byFrequency TCGA-67-6216-01A-11D-1753-08 TCGA-67-6216-10A-01D-1753-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6dc6da8c-2ecf-412f-b2c4-74529adb7c0f c76da76a-6d03-4c51-94ed-b333c1be8ca1 g.chr17:1675167G>A ENST00000254722.4 + 5 604 c.439_splice c.e5-1 p.K147_splice SERPINF1_ENST00000571870.1_3'UTR NM_002615.5 NP_002606.3 P36955 PEDF_HUMAN serpin peptidase inhibitor, clade F (alpha-2 antiplasmin, pigment epithelium derived factor), member 1 147 cell proliferation|negative regulation of angiogenesis|positive regulation of neurogenesis|regulation of proteolysis extracellular space|melanosome serine-type endopeptidase inhibitor activity p.K147K(1) autonomic_ganglia(1)|central_nervous_system(1)|endometrium(1)|large_intestine(4)|lung(2)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|stomach(1) 16 TCTTCTCAGAGCTGCGCATAA 0.562000 12 12 0 0 0.132662 0 0 LOC101927209 101927209 broad.mit.edu 37 1 142713773 142713773 + RNA SNP C C G TCGA-67-6216-01A-11D-1753-08 TCGA-67-6216-10A-01D-1753-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6dc6da8c-2ecf-412f-b2c4-74529adb7c0f c76da76a-6d03-4c51-94ed-b333c1be8ca1 g.chr1:142713773C>G ENST00000369381.2 - 0 832 TCTTTTTCCACATTGTCATTT 0.284000 3 41 0 0 0.115264 0 0 EXOC3L4 91828 broad.mit.edu 37 14 103574737 103574737 + Missense_Mutation SNP C C G TCGA-67-6216-01A-11D-1753-08 TCGA-67-6216-10A-01D-1753-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6dc6da8c-2ecf-412f-b2c4-74529adb7c0f c76da76a-6d03-4c51-94ed-b333c1be8ca1 g.chr14:103574737C>G ENST00000380069.3 + 10 1935 c.1859C>G c.(1858-1860)tCc>tGc p.S620C NM_001077594.1 NP_001071062.1 Q17RC7 EX3L4_HUMAN exocyst complex component 3-like 4 620 p.S620C(1) cervix(2)|endometrium(2)|lung(4)|ovary(1)|skin(1) 10 TCGCAGGGTTCCGAGGCCACA 0.637000 10 117 0 0 0.058154 0 0 FAM81A 145773 broad.mit.edu 37 15 59801128 59801128 + Missense_Mutation SNP C C G TCGA-67-6216-01A-11D-1753-08 TCGA-67-6216-10A-01D-1753-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6dc6da8c-2ecf-412f-b2c4-74529adb7c0f c76da76a-6d03-4c51-94ed-b333c1be8ca1 g.chr15:59801128C>G ENST00000288228.5 + 6 797 c.610C>G c.(610-612)Cac>Gac p.H204D NM_152450.2 NP_689663.2 Q8TBF8 FA81A_HUMAN family with sequence similarity 81, member A 204 p.H201D(1) endometrium(2)|large_intestine(1)|lung(5)|ovary(1)|skin(1) 10 GAAGATGTCTCACAGAGACAG 0.338000 3 53 0 0 0.115264 0 0 CREM 1390 broad.mit.edu 37 10 35468111 35468111 + Missense_Mutation SNP G G C TCGA-67-6216-01A-11D-1753-08 TCGA-67-6216-10A-01D-1753-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6dc6da8c-2ecf-412f-b2c4-74529adb7c0f c76da76a-6d03-4c51-94ed-b333c1be8ca1 g.chr10:35468111G>C ENST00000333809.8 + 5 517 c.463G>C c.(463-465)Gaa>Caa p.E155Q CREM_ENST00000342105.3_Missense_Mutation_p.E51Q|CREM_ENST00000374721.3_Missense_Mutation_p.E139Q|CREM_ENST00000337656.4_Missense_Mutation_p.E106Q|CREM_ENST00000395887.3_Missense_Mutation_p.E76Q|CREM_ENST00000354759.3_Missense_Mutation_p.E106Q|CREM_ENST00000474362.1_Intron|CREM_ENST00000395895.2_Missense_Mutation_p.E155Q|CREM_ENST00000348787.2_Missense_Mutation_p.E90Q|CREM_ENST00000374728.3_Missense_Mutation_p.E90Q|CREM_ENST00000374734.3_Missense_Mutation_p.E106Q|CREM_ENST00000361599.4_Missense_Mutation_p.E76Q|CREM_ENST00000489321.1_Missense_Mutation_p.E90Q|CREM_ENST00000463960.1_Missense_Mutation_p.E51Q|CREM_ENST00000489388.1_3'UTR|CREM_ENST00000463314.1_Intron|CREM_ENST00000345491.3_Missense_Mutation_p.E106Q|CREM_ENST00000460270.1_Intron|CREM_ENST00000374726.3_Missense_Mutation_p.E90Q|CREM_ENST00000484283.1_Missense_Mutation_p.E76Q|CREM_ENST00000439705.1_Missense_Mutation_p.E155Q|CREM_ENST00000479070.1_Missense_Mutation_p.E106Q|CREM_ENST00000429130.3_Missense_Mutation_p.E139Q NM_183011.1 NP_898829.1 Q03060 CREM_HUMAN cAMP responsive element modulator 155 KID. cell differentiation|multicellular organismal development|signal transduction|spermatogenesis nucleus cAMP response element binding protein binding|protein binding|protein dimerization activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity p.E106Q(1)|p.E90Q(1)|p.E76Q(1) NS(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(7)|prostate(1) 14 TCCCAAGATTGAAGAAGAGAG 0.393000 3 76 0 0 0.115264 0 0 DEAF1 10522 broad.mit.edu 37 11 679720 679720 + Missense_Mutation SNP G G A TCGA-67-6216-01A-11D-1753-08 TCGA-67-6216-10A-01D-1753-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6dc6da8c-2ecf-412f-b2c4-74529adb7c0f c76da76a-6d03-4c51-94ed-b333c1be8ca1 g.chr11:679720G>A ENST00000382409.3 - 8 1578 c.1094C>T c.(1093-1095)cCg>cTg p.P365L DEAF1_ENST00000525904.1_5'UTR|DEAF1_ENST00000338675.6_Missense_Mutation_p.P276L NM_021008.2 NP_066288.2 O75398 DEAF1_HUMAN DEAF1 transcription factor 365 embryonic skeletal system development|germ cell development|neural tube closure|regulation of mammary gland epithelial cell proliferation|regulation of transcription, DNA-dependent|transcription from RNA polymerase II promoter cytoplasm|extracellular region|nucleus protein binding|zinc ion binding p.P365L(1) breast(2)|endometrium(3)|kidney(1)|large_intestine(4)|lung(11)|prostate(2)|upper_aerodigestive_tract(1) 24 all_cancers(49;1.24e-08)|all_epithelial(84;1.87e-05)|Breast(177;0.000286)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.106)|all_lung(207;0.136) all cancers(45;1.76e-27)|Epithelial(43;8.42e-27)|OV - Ovarian serous cystadenocarcinoma(40;6.55e-21)|BRCA - Breast invasive adenocarcinoma(625;4.83e-05)|Lung(200;0.0259)|LUSC - Lung squamous cell carcinoma(625;0.075) GCCCTGGGCCGGACTCTCTGA 0.637000 6 41 0 0 0.029380 0 0 ZNF780A 284323 broad.mit.edu 37 19 40581559 40581559 + Missense_Mutation SNP G G A TCGA-67-6216-01A-11D-1753-08 TCGA-67-6216-10A-01D-1753-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6dc6da8c-2ecf-412f-b2c4-74529adb7c0f c76da76a-6d03-4c51-94ed-b333c1be8ca1 g.chr19:40581559G>A ENST00000450241.2 - 6 999 c.688C>T c.(688-690)Ctt>Ttt p.L230F ZNF780A_ENST00000340963.5_Missense_Mutation_p.L264F|ZNF780A_ENST00000455521.1_Missense_Mutation_p.L265F|ZNF780A_ENST00000414720.2_Intron|ZNF780A_ENST00000594395.1_Missense_Mutation_p.L265F|ZNF780A_ENST00000595687.2_Missense_Mutation_p.L264F|AC005614.5_ENST00000595508.1_RNA O75290 Z780A_HUMAN zinc finger protein 780A 264 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding p.L230F(1)|p.L265F(1) breast(2)|endometrium(1)|kidney(1)|large_intestine(7)|lung(16)|upper_aerodigestive_tract(3)|urinary_tract(1) 31 all_cancers(60;9.55e-06)|all_lung(34;1.17e-07)|Lung NSC(34;1.41e-07)|Ovarian(47;0.0925) TGTTGAACAAGGTTTGAGCTA 0.398000 45 154 0 0 0.139131 0 0 ZNF852 285346 broad.mit.edu 37 3 44540772 44540772 + Missense_Mutation SNP C C A TCGA-67-6216-01A-11D-1753-08 TCGA-67-6216-10A-01D-1753-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6dc6da8c-2ecf-412f-b2c4-74529adb7c0f c76da76a-6d03-4c51-94ed-b333c1be8ca1 g.chr3:44540772C>A ENST00000436261.1 - 4 1657 c.1497G>T c.(1495-1497)ttG>ttT p.L499F B6EU87 B6EU87_HUMAN zinc finger protein 852 0 regulation of transcription, DNA-dependent intracellular nucleic acid binding|zinc ion binding p.L499F(2) endometrium(2)|kidney(1)|lung(5) 8 TTCCCACACTCAATACATTCA 0.468000 19 44 3.32936e-07 3.65684e-07 0.175082 1 0 NTF4 4909 broad.mit.edu 37 19 49564708 49564708 + Missense_Mutation SNP C C T TCGA-67-6216-01A-11D-1753-08 TCGA-67-6216-10A-01D-1753-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6dc6da8c-2ecf-412f-b2c4-74529adb7c0f c76da76a-6d03-4c51-94ed-b333c1be8ca1 g.chr19:49564708C>T ENST00000301411.3 - 2 687 c.547G>A c.(547-549)Gat>Aat p.D183N NTF4_ENST00000593537.1_Missense_Mutation_p.D183N|NTF4_ENST00000451356.2_Intron NM_006179.4 NP_006170.1 P34130 NTF4_HUMAN neurotrophin 4 183 adult locomotory behavior|epidermis development|ganglion mother cell fate determination|long-term memory|sensory organ boundary specification endoplasmic reticulum lumen|extracellular region growth factor activity p.D183N(1) kidney(1)|lung(4)|upper_aerodigestive_tract(1) 6 all_lung(116;1.7e-06)|Lung NSC(112;3.55e-06)|all_epithelial(76;3.83e-06)|all_neural(266;0.0189)|Ovarian(192;0.0261) all cancers(93;0.000371)|OV - Ovarian serous cystadenocarcinoma(262;0.000503)|GBM - Glioblastoma multiforme(486;0.00518)|Epithelial(262;0.0427) CCCTGGGCATCAGCGGTCAAT 0.667000 6 34 0 0 0.021553 0 0 LPIN2 9663 broad.mit.edu 37 18 2954540 2954540 + Missense_Mutation SNP C C G TCGA-67-6216-01A-11D-1753-08 TCGA-67-6216-10A-01D-1753-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6dc6da8c-2ecf-412f-b2c4-74529adb7c0f c76da76a-6d03-4c51-94ed-b333c1be8ca1 g.chr18:2954540C>G ENST00000261596.4 - 3 488 c.250G>C c.(250-252)Gga>Cga p.G84R RP11-737O24.2_ENST00000584431.1_RNA NM_014646.2 NP_055461.1 Q92539 LPIN2_HUMAN lipin 2 84 N-LIP. fatty acid metabolic process|positive regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent|triglyceride biosynthetic process cytosol|endoplasmic reticulum membrane|nucleus phosphatidate phosphatase activity|transcription coactivator activity p.G84R(1) autonomic_ganglia(1)|breast(1)|endometrium(2)|large_intestine(4)|lung(16)|ovary(1)|pancreas(1)|prostate(2)|skin(1) 29 READ - Rectum adenocarcinoma(2;0.0419)|Colorectal(6;0.156) AAAGCTTCTCCGTTATCACCC 0.433000 7 75 0 0 0.047766 0 0 KIAA1324L 222223 broad.mit.edu 37 7 86526912 86526912 + Missense_Mutation SNP G G T rs147564059 TCGA-67-6216-01A-11D-1753-08 TCGA-67-6216-10A-01D-1753-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6dc6da8c-2ecf-412f-b2c4-74529adb7c0f c76da76a-6d03-4c51-94ed-b333c1be8ca1 g.chr7:86526912G>T ENST00000450689.2 - 19 2780 c.2595C>A c.(2593-2595)ttC>ttA p.F865L KIAA1324L_ENST00000297222.6_Missense_Mutation_p.F625L|KIAA1324L_ENST00000416314.1_Missense_Mutation_p.F698L|KIAA1324L_ENST00000444627.1_Missense_Mutation_p.F794L NM_001142749.2 NP_001136221.1 A8MWY0 K132L_HUMAN KIAA1324-like 865 integral to membrane p.F625L(1)|p.F625F(1)|p.F865L(1) breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(11)|lung(14)|ovary(6)|prostate(3)|skin(2)|upper_aerodigestive_tract(1) 44 Esophageal squamous(14;0.0058) ACAGGAAATAGAACGTACACC 0.458000 5 53 0.00198382 0.00207681 0.029380 1 0 LOC101927209 101927209 broad.mit.edu 37 1 142713774 142713774 + RNA SNP A A G TCGA-67-6216-01A-11D-1753-08 TCGA-67-6216-10A-01D-1753-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6dc6da8c-2ecf-412f-b2c4-74529adb7c0f c76da76a-6d03-4c51-94ed-b333c1be8ca1 g.chr1:142713774A>G ENST00000369381.2 - 0 831 CTTTTTCCACATTGTCATTTT 0.284000 3 44 0 0 0.115264 0 0 EFR3A 23167 broad.mit.edu 37 8 132996391 132996391 + Silent SNP G G A TCGA-67-6216-01A-11D-1753-08 TCGA-67-6216-10A-01D-1753-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6dc6da8c-2ecf-412f-b2c4-74529adb7c0f c76da76a-6d03-4c51-94ed-b333c1be8ca1 g.chr8:132996391G>A ENST00000254624.5 + 15 1806 c.1581G>A c.(1579-1581)ggG>ggA p.G527G EFR3A_ENST00000519656.1_Silent_p.G491G|EFR3A_ENST00000334503.4_Silent_p.G527G NM_015137.4 NP_055952.2 Q14156 EFR3A_HUMAN EFR3 homolog A (S. cerevisiae) 527 plasma membrane binding p.G527G(1) breast(2)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(6)|lung(14)|ovary(3)|skin(1)|stomach(2) 35 Esophageal squamous(12;0.00693)|Ovarian(258;0.00769)|Acute lymphoblastic leukemia(118;0.155) BRCA - Breast invasive adenocarcinoma(115;0.000805)|LUAD - Lung adenocarcinoma(14;0.102) CTCAGAATGGGCAACAGCTGT 0.348000 3 60 0 0 0.115264 0 0 ALG13 79868 broad.mit.edu 37 X 110961491 110961491 + Silent SNP A A G TCGA-67-6216-01A-11D-1753-08 TCGA-67-6216-10A-01D-1753-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6dc6da8c-2ecf-412f-b2c4-74529adb7c0f c76da76a-6d03-4c51-94ed-b333c1be8ca1 g.chrX:110961491A>G ENST00000394780.3 + 10 1251 c.1239A>G c.(1237-1239)tcA>tcG p.S413S ALG13_ENST00000251943.4_Silent_p.S309S NM_001099922.2|NM_001257231.1 NP_001093392.1|NP_001244160.1 Q9NP73 ALG13_HUMAN ALG13, UDP-N-acetylglucosaminyltransferase subunit 413 dolichol-linked oligosaccharide biosynthetic process|lipid glycosylation|post-translational protein modification|protein N-linked glycosylation via asparagine endoplasmic reticulum membrane carbohydrate binding|N-acetylglucosaminyldiphosphodolichol N-acetylglucosaminyltransferase activity p.S413S(1)|p.S309S(1) endometrium(2)|lung(10)|skin(1) 13 ACAAGAGTTCAAATCAGAATA 0.373000 2 13 0 0 0.150653 0 0 ZNF331 55422 broad.mit.edu 37 19 54074859 54074859 + Splice_Site SNP G G A TCGA-67-6216-01A-11D-1753-08 TCGA-67-6216-10A-01D-1753-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6dc6da8c-2ecf-412f-b2c4-74529adb7c0f c76da76a-6d03-4c51-94ed-b333c1be8ca1 g.chr19:54074859G>A ENST00000253144.9 + 6 1344 c.9_splice c.e6-1 p.G4_splice ZNF331_ENST00000449416.1_Splice_Site_p.G4_splice|ZNF331_ENST00000411977.2_Splice_Site_p.G4_splice|ZNF331_ENST00000511593.2_Splice_Site_p.G4_splice|ZNF331_ENST00000512387.1_Splice_Site_p.G4_splice|ZNF331_ENST00000513265.1_Splice_Site_p.G4_splice|ZNF331_ENST00000511154.1_Splice_Site_p.G4_splice|ZNF331_ENST00000513999.1_Splice_Site_p.G4_splice NM_001253801.1|NM_018555.5 NP_001240730.1|NP_061025.5 Q9NQX6 ZN331_HUMAN zinc finger protein 331 4 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding p.G4D(1) NS(1)|large_intestine(1)|lung(1)|ovary(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(2) 10 GBM - Glioblastoma multiforme(134;0.00555) CTGTTTCAGGGTTTGGTGACG 0.542000 T ? follicular thyroid adenoma 41 503 0 0 0.139131 0 0 PARG 8505 broad.mit.edu 37 10 51093329 51093329 + Missense_Mutation SNP C C T TCGA-67-6216-01A-11D-1753-08 TCGA-67-6216-10A-01D-1753-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6dc6da8c-2ecf-412f-b2c4-74529adb7c0f c76da76a-6d03-4c51-94ed-b333c1be8ca1 g.chr10:51093329C>T ENST00000402038.3 - 4 294 c.295G>A c.(295-297)Gca>Aca p.A99T NM_003631.2 NP_003622.2 Q86W56 PARG_HUMAN poly (ADP-ribose) glycohydrolase 584 carbohydrate metabolic process nucleus poly(ADP-ribose) glycohydrolase activity p.A584T(1) endometrium(5)|kidney(2)|lung(1)|ovary(2) 10 Epithelial(53;0.213) TGAGCTTCTGCTTCTTCAAGT 0.318000 3 67 0 0 0.115264 0 0 FANCI 55215 broad.mit.edu 37 15 89824490 89824490 + Silent SNP C C T TCGA-67-6216-01A-11D-1753-08 TCGA-67-6216-10A-01D-1753-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6dc6da8c-2ecf-412f-b2c4-74529adb7c0f c76da76a-6d03-4c51-94ed-b333c1be8ca1 g.chr15:89824490C>T ENST00000310775.7 + 15 1557 c.1471C>T c.(1471-1473)Ctg>Ttg p.L491L FANCI_ENST00000300027.8_Silent_p.L491L NM_001113378.1 NP_001106849.1 Q9NVI1 FANCI_HUMAN Fanconi anemia, complementation group I 491 cell cycle|DNA repair nucleoplasm protein binding p.L491L(2) breast(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(7)|ovary(2)|pancreas(1)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 31 Lung NSC(78;0.0472)|all_lung(78;0.089) TTTGTCCTTTCTGCCCCTTCA 0.413000 Involved in tolerance or repair of DNA crosslinks Fanconi Anemia 4 160 0 0 0.150653 0 0 TCL6 27004 broad.mit.edu 37 14 96134693 96134693 + RNA SNP C C G TCGA-67-6216-01A-11D-1753-08 TCGA-67-6216-10A-01D-1753-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6dc6da8c-2ecf-412f-b2c4-74529adb7c0f c76da76a-6d03-4c51-94ed-b333c1be8ca1 g.chr14:96134693C>G ENST00000467865.1 + 0 1821 RP11-1070N10.6_ENST00000461160.1_RNA large_intestine(1)|lung(7) 8 all_cancers(154;0.103) Epithelial(152;0.0655)|all cancers(159;0.149)|BRCA - Breast invasive adenocarcinoma(234;0.206)|COAD - Colon adenocarcinoma(157;0.207) CGTTACTATTCAAACTGCACA 0.488000 T TRA@ T-ALL 4 42 0 0 0.150653 0 0 RTKN2 219790 broad.mit.edu 37 10 64000899 64000899 + Splice_Site SNP A A G TCGA-67-6216-01A-11D-1753-08 TCGA-67-6216-10A-01D-1753-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6dc6da8c-2ecf-412f-b2c4-74529adb7c0f c76da76a-6d03-4c51-94ed-b333c1be8ca1 g.chr10:64000899A>G ENST00000373789.3 - 4 467 c.e4+1 RTKN2_ENST00000395260.3_Splice_Site|RTKN2_ENST00000395265.1_Splice_Site NM_145307.2 NP_660350.2 Q8IZC4 RTKN2_HUMAN rhotekin 2 signal transduction intracellular p.?(1) endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(3)|lung(6)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 21 Prostate(12;0.0297)|all_hematologic(501;0.215) AATCATACATACGTTCTTTAT 0.289000 3 35 0 0 0.115264 0 0 SKIV2L2 23517 broad.mit.edu 37 5 54711811 54711811 + Missense_Mutation SNP G G C TCGA-67-6216-01A-11D-1753-08 TCGA-67-6216-10A-01D-1753-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6dc6da8c-2ecf-412f-b2c4-74529adb7c0f c76da76a-6d03-4c51-94ed-b333c1be8ca1 g.chr5:54711811G>C ENST00000230640.5 + 25 3076 c.2822G>C c.(2821-2823)aGa>aCa p.R941T SKIV2L2_ENST00000545714.1_Missense_Mutation_p.R840T NM_015360.4 NP_056175.3 P42285 SK2L2_HUMAN superkiller viralicidic activity 2-like 2 (S. cerevisiae) 941 maturation of 5.8S rRNA catalytic step 2 spliceosome|nucleolus ATP binding|ATP-dependent helicase activity|nucleic acid binding|protein binding p.R941T(1) NS(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(5)|lung(12)|ovary(1)|prostate(4)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 41 Lung NSC(810;0.000744)|Breast(144;0.181)|Prostate(74;0.194) TGTGCTAAAAGAATTGCAAAA 0.343000 3 51 0 0 0.115264 0 0 SNRPB2 6629 broad.mit.edu 37 20 16717952 16717952 + Missense_Mutation SNP G G T TCGA-67-6216-01A-11D-1753-08 TCGA-67-6216-10A-01D-1753-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6dc6da8c-2ecf-412f-b2c4-74529adb7c0f c76da76a-6d03-4c51-94ed-b333c1be8ca1 g.chr20:16717952G>T ENST00000246071.6 + 4 500 c.284G>T c.(283-285)cGt>cTt p.R95L SNRPB2_ENST00000377943.5_Missense_Mutation_p.R95L NM_003092.4 NP_003083.1 P08579 RU2B_HUMAN small nuclear ribonucleoprotein polypeptide B 95 catalytic step 2 spliceosome|nucleoplasm|U2 snRNP nucleotide binding|protein binding|RNA binding p.R95L(1) large_intestine(2)|lung(2)|urinary_tract(1) 5 TCAAAAATGCGTGGAACTTTT 0.348000 3 28 0.004672 0.00481575 0.115264 1 0 IL31 386653 broad.mit.edu 37 12 122657188 122657188 + Missense_Mutation SNP C C A TCGA-67-6216-01A-11D-1753-08 TCGA-67-6216-10A-01D-1753-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6dc6da8c-2ecf-412f-b2c4-74529adb7c0f c76da76a-6d03-4c51-94ed-b333c1be8ca1 g.chr12:122657188C>A ENST00000377035.1 - 3 292 c.266G>T c.(265-267)cGg>cTg p.R89L NM_001014336.1 NP_001014358.1 Q6EBC2 IL31_HUMAN interleukin 31 89 extracellular space cytokine activity p.R89L(1) central_nervous_system(2)|kidney(1)|large_intestine(4)|lung(4)|skin(1)|upper_aerodigestive_tract(1) 13 all_neural(191;0.0837)|Medulloblastoma(191;0.163) Lung NSC(355;6.93e-05)|Breast(359;0.0544) OV - Ovarian serous cystadenocarcinoma(86;3.27e-29)|Epithelial(86;4.86e-27)|BRCA - Breast invasive adenocarcinoma(302;0.223) GAGATATGCCCGGATGGCTGG 0.507000 3 50 0.115264 0.11701 0.115264 1 0 HMGCR 3156 broad.mit.edu 37 5 74646703 74646703 + Silent SNP A A G TCGA-67-6216-01A-11D-1753-08 TCGA-67-6216-10A-01D-1753-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6dc6da8c-2ecf-412f-b2c4-74529adb7c0f c76da76a-6d03-4c51-94ed-b333c1be8ca1 g.chr5:74646703A>G ENST00000287936.4 + 9 1026 c.870A>G c.(868-870)tcA>tcG p.S290S HMGCR_ENST00000343975.5_Silent_p.S290S|HMGCR_ENST00000511206.1_Silent_p.S290S NM_000859.2 NP_000850.1 P04035 HMDH_HUMAN 3-hydroxy-3-methylglutaryl-CoA reductase 290 cholesterol biosynthetic process|coenzyme A metabolic process|germ cell migration|gonad development|isoprenoid biosynthetic process endoplasmic reticulum membrane|integral to membrane|peroxisomal membrane hydroxymethylglutaryl-CoA reductase (NADPH) activity|NADP binding p.S290S(1) breast(1)|endometrium(5)|kidney(3)|large_intestine(3)|lung(6)|ovary(1)|prostate(1) 20 all_lung(232;0.00101)|Lung NSC(167;0.00278)|Ovarian(174;0.0129)|Prostate(461;0.174) OV - Ovarian serous cystadenocarcinoma(47;2.24e-54) Atorvastatin(DB01076)|Bezafibrate(DB01393)|Cerivastatin(DB00439)|Fluvastatin(DB01095)|Lovastatin(DB00227)|NADH(DB00157)|Pravastatin(DB00175)|Rosuvastatin(DB01098)|Simvastatin(DB00641) CTAAGGTTTCATTAGGACTGG 0.383000 7 103 0 0 0.038147 0 0 ARL17A 51326 broad.mit.edu 37 17 44594493 44594493 + Silent SNP G G C TCGA-67-6216-01A-11D-1753-08 TCGA-67-6216-10A-01D-1753-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6dc6da8c-2ecf-412f-b2c4-74529adb7c0f c76da76a-6d03-4c51-94ed-b333c1be8ca1 g.chr17:44594493G>C ENST00000445552.2 - 4 452 c.366C>G c.(364-366)ctC>ctG p.L122L LRRC37A2_ENST00000576629.1_Intron|ARL17A_ENST00000329240.4_Silent_p.L122L|LRRC37A2_ENST00000333412.3_Intron|ARL17A_ENST00000337845.7_3'UTR NM_016632.2 NP_057716.2 Q8IVW1 ARL17_HUMAN ADP-ribosylation factor-like 17A 0 protein transport|vesicle-mediated transport Golgi apparatus GTP binding p.L122L(1) lung(1) 1 ATCTGTCCAAGAGATGGGATG 0.388000 7 80 0 0 0.029380 0 0 EME1 146956 broad.mit.edu 37 17 48452594 48452594 + Missense_Mutation SNP T T C TCGA-67-6216-01A-11D-1753-08 TCGA-67-6216-10A-01D-1753-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6dc6da8c-2ecf-412f-b2c4-74529adb7c0f c76da76a-6d03-4c51-94ed-b333c1be8ca1 g.chr17:48452594T>C ENST00000393271.2 + 2 107 c.25T>C c.(25-27)Tca>Cca p.S9P EME1_ENST00000338165.4_Missense_Mutation_p.S9P|EME1_ENST00000511648.2_Missense_Mutation_p.S9P NM_001166131.1 NP_001159603.1 Q96AY2 EME1_HUMAN essential meiotic structure-specific endonuclease 1 9 DNA recombination|DNA repair nucleolus DNA binding|endonuclease activity|metal ion binding|protein binding p.S9P(1) endometrium(4)|kidney(2)|large_intestine(4)|lung(5)|ovary(1)|stomach(2)|upper_aerodigestive_tract(1) 19 Breast(11;5.62e-19) BRCA - Breast invasive adenocarcinoma(22;2.43e-08) GTCATCACCCTCACTGGATTC 0.428000 Direct reversal of damage;Homologous recombination 6 98 0 0 0.021553 0 0 HSD17B7P2 158160 broad.mit.edu 37 10 38654432 38654432 + RNA SNP A A G rs2257765 TCGA-67-6216-01A-11D-1753-08 TCGA-67-6216-10A-01D-1753-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6dc6da8c-2ecf-412f-b2c4-74529adb7c0f c76da76a-6d03-4c51-94ed-b333c1be8ca1 g.chr10:38654432A>G ENST00000494540.1 + 0 599 NR_003086.1 TCATCTCGCAATGCAAGGAAA 0.453000 3 65 0 0 0.115264 0 0 MUC16 94025 broad.mit.edu 37 19 9066642 9066642 + Missense_Mutation SNP G G A TCGA-67-6216-01A-11D-1753-08 TCGA-67-6216-10A-01D-1753-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6dc6da8c-2ecf-412f-b2c4-74529adb7c0f c76da76a-6d03-4c51-94ed-b333c1be8ca1 g.chr19:9066642G>A ENST00000397910.4 - 3 21007 c.20804C>T c.(20803-20805)tCc>tTc p.S6935F NM_024690.2 NP_078966.2 Q8WXI7 MUC16_HUMAN mucin 16, cell surface associated 6937 Thr-rich. cell adhesion extracellular space|extrinsic to membrane|integral to membrane|plasma membrane protein binding p.S6935F(2)|p.S2568F(1) 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 AGTCTCAGAGGAAACAGACAT 0.458000 70 219 0 0 0.139131 0 0 PRIM1 5557 broad.mit.edu 37 12 57128024 57128024 + Nonsense_Mutation SNP T T A TCGA-67-6216-01A-11D-1753-08 TCGA-67-6216-10A-01D-1753-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6dc6da8c-2ecf-412f-b2c4-74529adb7c0f c76da76a-6d03-4c51-94ed-b333c1be8ca1 g.chr12:57128024T>A ENST00000338193.6 - 12 1186 c.1150A>T c.(1150-1152)Aag>Tag p.K384* NM_000946.2 NP_000937.1 P49642 PRI1_HUMAN primase, DNA, polypeptide 1 (49kDa) 384 DNA replication, synthesis of RNA primer|DNA strand elongation involved in DNA replication|DNA-dependent DNA replication initiation|G1/S transition of mitotic cell cycle|M/G1 transition of mitotic cell cycle|S phase of mitotic cell cycle|telomere maintenance via recombination|telomere maintenance via semi-conservative replication alpha DNA polymerase:primase complex|nucleoplasm DNA primase activity|metal ion binding p.K384*(1) kidney(1)|lung(6)|prostate(1) 8 CTGGTCTTCTTATAATCTAAA 0.323000 6 25 0 0 0.029380 0 0 SLFN12 55106 broad.mit.edu 37 17 33749738 33749738 + Missense_Mutation SNP G G C TCGA-67-6216-01A-11D-1753-08 TCGA-67-6216-10A-01D-1753-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6dc6da8c-2ecf-412f-b2c4-74529adb7c0f c76da76a-6d03-4c51-94ed-b333c1be8ca1 g.chr17:33749738G>C ENST00000394562.1 - 4 833 c.310C>G c.(310-312)Ctg>Gtg p.L104V SLFN12_ENST00000304905.5_Missense_Mutation_p.L104V|SLFN12_ENST00000452764.3_Missense_Mutation_p.L104V Q8IYM2 SLN12_HUMAN schlafen family member 12 104 ATP binding p.L104V(1) breast(1)|kidney(2)|large_intestine(3)|lung(8)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1) 18 Ovarian(249;0.17) UCEC - Uterine corpus endometrioid carcinoma (308;0.0182) ACAAAAATCAGAAAGTAGTTA 0.358000 6 66 0 0 0.021553 0 0 CROT 54677 broad.mit.edu 37 7 86998766 86998766 + Missense_Mutation SNP G G A TCGA-67-6216-01A-11D-1753-08 TCGA-67-6216-10A-01D-1753-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6dc6da8c-2ecf-412f-b2c4-74529adb7c0f c76da76a-6d03-4c51-94ed-b333c1be8ca1 g.chr7:86998766G>A ENST00000331536.3 + 7 807 c.622G>A c.(622-624)Gaa>Aaa p.E208K CROT_ENST00000419147.2_Missense_Mutation_p.E236K|CROT_ENST00000442291.1_Missense_Mutation_p.E208K NM_021151.3 NP_066974.2 Q9UKG9 OCTC_HUMAN carnitine O-octanoyltransferase 208 fatty acid beta-oxidation using acyl-CoA oxidase|generation of precursor metabolites and energy|transport peroxisomal matrix carnitine O-octanoyltransferase activity p.E208K(1) NS(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(4)|lung(21)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(1) 37 Esophageal squamous(14;0.0058)|all_lung(186;0.201)|Lung NSC(181;0.203) L-Carnitine(DB00583) TGTAATACATGAAGGATGTTT 0.423000 11 150 0 0 0.105934 0 0 PI4KB 5298 broad.mit.edu 37 1 151271344 151271344 + Missense_Mutation SNP T T C TCGA-67-6216-01A-11D-1753-08 TCGA-67-6216-10A-01D-1753-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6dc6da8c-2ecf-412f-b2c4-74529adb7c0f c76da76a-6d03-4c51-94ed-b333c1be8ca1 g.chr1:151271344T>C ENST00000368875.2 - 10 2571 c.1991A>G c.(1990-1992)aAt>aGt p.N664S PI4KB_ENST00000529142.1_Missense_Mutation_p.N320S|PI4KB_ENST00000368874.4_Missense_Mutation_p.N637S|PI4KB_ENST00000271657.5_Missense_Mutation_p.N664S|PI4KB_ENST00000368872.1_Missense_Mutation_p.N637S|PI4KB_ENST00000368873.1_Missense_Mutation_p.N652S NM_002651.2 NP_002642.1 Q9UBF8 PI4KB_HUMAN phosphatidylinositol 4-kinase, catalytic, beta 652 PI3K/PI4K. phosphatidylinositol biosynthetic process|phosphatidylinositol-mediated signaling|receptor-mediated endocytosis endosome|Golgi apparatus|mitochondrial outer membrane|perinuclear region of cytoplasm|rough endoplasmic reticulum membrane 1-phosphatidylinositol 4-kinase activity|ATP binding|protein binding p.N664S(1) breast(3)|endometrium(5)|kidney(3)|large_intestine(2)|lung(7)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(1) 27 Lung SC(34;0.00471)|Ovarian(49;0.0147)|Hepatocellular(266;0.0997)|all_hematologic(923;0.127)|Melanoma(130;0.185) UCEC - Uterine corpus endometrioid carcinoma (35;0.112)|LUSC - Lung squamous cell carcinoma(543;0.181) TTGCACAAAATTGCGCTGTGC 0.507000 18 201 0 0 0.160694 0 0 LRP12 29967 broad.mit.edu 37 8 105509340 105509340 + Silent SNP G G A TCGA-67-6216-01A-11D-1753-08 TCGA-67-6216-10A-01D-1753-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6dc6da8c-2ecf-412f-b2c4-74529adb7c0f c76da76a-6d03-4c51-94ed-b333c1be8ca1 g.chr8:105509340G>A ENST00000276654.5 - 5 1548 c.1440C>T c.(1438-1440)agC>agT p.S480S LRP12_ENST00000424843.2_Silent_p.S461S NM_013437.4 NP_038465.1 Q9Y561 LRP12_HUMAN low density lipoprotein receptor-related protein 12 480 LDL-receptor class A 5. endocytosis|regulation of growth coated pit|integral to plasma membrane low-density lipoprotein receptor activity|protein binding p.S480S(2) NS(1)|breast(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(10)|lung(18)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1) 48 OV - Ovarian serous cystadenocarcinoma(57;1.21e-06)|STAD - Stomach adenocarcinoma(118;0.229) TTTCTTCATCGCTGCCATCAC 0.448000 5 89 0 0 0.021553 0 0 ZDHHC15 158866 broad.mit.edu 37 X 74644506 74644506 + Missense_Mutation SNP G G C TCGA-67-6216-01A-11D-1753-08 TCGA-67-6216-10A-01D-1753-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6dc6da8c-2ecf-412f-b2c4-74529adb7c0f c76da76a-6d03-4c51-94ed-b333c1be8ca1 g.chrX:74644506G>C ENST00000541184.1 - 7 1167 c.690C>G c.(688-690)agC>agG p.S230R ZDHHC15_ENST00000373361.3_3'UTR|ZDHHC15_ENST00000373367.3_Missense_Mutation_p.S239R NM_001146256.1 NP_001139728.1 Q96MV8 ZDH15_HUMAN zinc finger, DHHC-type containing 15 239 integral to membrane zinc ion binding p.S239R(1) central_nervous_system(2)|endometrium(3)|large_intestine(5)|liver(1)|lung(11)|ovary(2)|skin(2) 26 TTTTGTTTCTGCTGACAAGCC 0.378000 6 43 0 0 0.047766 0 0 ABCC12 94160 broad.mit.edu 37 16 48145805 48145805 + Missense_Mutation SNP T T A TCGA-67-6216-01A-11D-1753-08 TCGA-67-6216-10A-01D-1753-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6dc6da8c-2ecf-412f-b2c4-74529adb7c0f c76da76a-6d03-4c51-94ed-b333c1be8ca1 g.chr16:48145805T>A ENST00000311303.3 - 14 2351 c.2006A>T c.(2005-2007)gAt>gTt p.D669V ABCC12_ENST00000416054.1_3'UTR|ABCC12_ENST00000448542.1_Missense_Mutation_p.D669V NM_033226.2 NP_150229.2 Q96J65 MRP9_HUMAN ATP-binding cassette, sub-family C (CFTR/MRP), member 12 669 ABC transporter 1. integral to membrane ATP binding|ATPase activity, coupled to transmembrane movement of substances p.D669V(1) NS(1)|breast(5)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(15)|liver(1)|lung(43)|ovary(2)|prostate(3)|skin(7)|urinary_tract(1) 90 all_cancers(37;0.0474)|all_lung(18;0.047) AATAACTTCATCACAAGACTC 0.438000 9 19 0 0 0.069234 0 0 NUP98 4928 broad.mit.edu 37 11 3704561 3704561 + Missense_Mutation SNP G G A TCGA-67-6216-01A-11D-1753-08 TCGA-67-6216-10A-01D-1753-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6dc6da8c-2ecf-412f-b2c4-74529adb7c0f c76da76a-6d03-4c51-94ed-b333c1be8ca1 g.chr11:3704561G>A ENST00000324932.7 - 30 5207 c.4787C>T c.(4786-4788)gCc>gTc p.A1596V NUP98_ENST00000359171.4_Missense_Mutation_p.A1522V|NUP98_ENST00000355260.3_Missense_Mutation_p.A1522V NM_016320.4|NM_139132.3 NP_057404.2|NP_624358.2 P52948 NUP98_HUMAN nucleoporin 98kDa 1613 carbohydrate metabolic process|DNA replication|glucose transport|interspecies interaction between organisms|mitotic prometaphase|mRNA transport|nuclear pore organization|protein import into nucleus, docking|regulation of glucose transport|transmembrane transport|viral reproduction cytosol|nuclear membrane|nucleoplasm|Nup107-160 complex protein binding|structural constituent of nuclear pore|transporter activity p.A1596V(1) NS(1)|autonomic_ganglia(1)|breast(8)|central_nervous_system(1)|endometrium(5)|kidney(5)|large_intestine(13)|liver(1)|lung(15)|ovary(2)|prostate(2)|skin(9)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 66 Medulloblastoma(188;0.0025)|Breast(177;0.00328)|all_neural(188;0.0227) BRCA - Breast invasive adenocarcinoma(625;0.0403)|LUSC - Lung squamous cell carcinoma(625;0.116)|Lung(200;0.199) GATCCATTTGGCAGGTACACG 0.537000 T """HOXA9, NSD1, WHSC1L1, DDX10, TOP1, HOXD13, PMX1, HOXA13, HOXD11, HOXA11, RAP1GDS1, HOXC11""" AML 22 71 0 0 0.083992 0 0 LILRB2 10288 broad.mit.edu 37 19 54780707 54780707 + Silent SNP G G A TCGA-67-6216-01A-11D-1753-08 TCGA-67-6216-10A-01D-1753-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6dc6da8c-2ecf-412f-b2c4-74529adb7c0f c76da76a-6d03-4c51-94ed-b333c1be8ca1 g.chr19:54780707G>A ENST00000391748.1 - 10 1561 c.1434C>T c.(1432-1434)ctC>ctT p.L478L LILRB2_ENST00000434421.1_Silent_p.L363L|LILRB2_ENST00000391749.4_Silent_p.L479L|LILRB2_ENST00000391746.1_Silent_p.L479L|LILRB2_ENST00000314446.5_Silent_p.L478L NM_001278403.1 NP_001265332.1 Q8N423 LIRB2_HUMAN leukocyte immunoglobulin-like receptor, subfamily B (with TM and ITIM domains), member 2 479 cell surface receptor linked signaling pathway|cell-cell signaling|cellular defense response|immune response|regulation of immune response integral to plasma membrane|membrane fraction receptor activity p.L479L(1) breast(2)|endometrium(3)|kidney(1)|large_intestine(4)|lung(30)|prostate(2)|skin(1)|upper_aerodigestive_tract(1) 44 Ovarian(34;0.19) GBM - Glioblastoma multiforme(193;0.105) ggatgaggaagaggaggagga 0.607000 4 111 0 0 0.150653 0 0 LRRK2 120892 broad.mit.edu 37 12 40761481 40761481 + Missense_Mutation SNP C C G TCGA-67-6216-01A-11D-1753-08 TCGA-67-6216-10A-01D-1753-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6dc6da8c-2ecf-412f-b2c4-74529adb7c0f c76da76a-6d03-4c51-94ed-b333c1be8ca1 g.chr12:40761481C>G ENST00000298910.7 + 51 7556 c.7498C>G c.(7498-7500)Ctt>Gtt p.L2500V NM_198578.3 NP_940980.3 Q5S007 LRRK2_HUMAN leucine-rich repeat kinase 2 2500 activation of MAPKK activity|determination of adult lifespan|exploration behavior|intracellular distribution of mitochondria|negative regulation of branching morphogenesis of a nerve|negative regulation of dendritic spine morphogenesis|negative regulation of neuroblast proliferation|negative regulation of neuron maturation|neuromuscular junction development|neuron death|peptidyl-serine phosphorylation|positive regulation of autophagy|positive regulation of dopamine receptor signaling pathway|positive regulation of programmed cell death|positive regulation of proteasomal ubiquitin-dependent protein catabolic process|positive regulation of protein phosphorylation|positive regulation of protein ubiquitination|protein autophosphorylation|regulation of kidney size|regulation of locomotion|regulation of membrane potential|response to oxidative stress|small GTPase mediated signal transduction|tangential migration from the subventricular zone to the olfactory bulb external side of mitochondrial outer membrane ATP binding|GTP binding|GTP-dependent protein kinase activity|GTPase activator activity|MAP kinase kinase activity|protein homodimerization activity|tubulin binding p.L2507V(1)|p.L2500V(1) NS(3)|biliary_tract(1)|breast(6)|central_nervous_system(2)|cervix(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(1)|kidney(23)|large_intestine(31)|lung(55)|ovary(15)|pancreas(2)|prostate(4)|skin(4)|stomach(9)|upper_aerodigestive_tract(7)|urinary_tract(2) 181 all_cancers(12;0.00108)|Breast(8;0.218) Lung NSC(34;0.0942)|all_lung(34;0.11) GGACATCAATCTTCCACATGA 0.303000 3 72 0 0 0.115264 0 0 DAPK1 1612 broad.mit.edu 37 9 90220046 90220046 + Silent SNP C C T rs36207429 TCGA-67-6216-01A-11D-1753-08 TCGA-67-6216-10A-01D-1753-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6dc6da8c-2ecf-412f-b2c4-74529adb7c0f c76da76a-6d03-4c51-94ed-b333c1be8ca1 g.chr9:90220046C>T ENST00000469640.2 + 3 615 c.240C>T c.(238-240)caC>caT p.H80H DAPK1_ENST00000408954.3_Silent_p.H80H|DAPK1_ENST00000358077.5_Silent_p.H80H|DAPK1_ENST00000472284.1_Silent_p.H80H|DAPK1_ENST00000491893.1_Silent_p.H80H P53355 DAPK1_HUMAN death-associated protein kinase 1 80 Protein kinase. apoptosis|induction of apoptosis by extracellular signals|intracellular protein kinase cascade actin cytoskeleton|cytoplasm ATP binding|calmodulin binding|protein serine/threonine kinase activity p.H80H(2) breast(5)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(27)|liver(2)|lung(17)|ovary(1)|prostate(2)|skin(3)|stomach(1) 72 TCACCCTGCACGAGGTCTATG 0.622000 Chronic Lymphocytic Leukemia, Familial Clustering of 12 32 0 0 0.093190 0 0 SETD2 29072 broad.mit.edu 37 3 47103747 47103747 + Nonsense_Mutation SNP T T A TCGA-67-6216-01A-11D-1753-08 TCGA-67-6216-10A-01D-1753-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6dc6da8c-2ecf-412f-b2c4-74529adb7c0f c76da76a-6d03-4c51-94ed-b333c1be8ca1 g.chr3:47103747T>A ENST00000409792.3 - 14 6241 c.6199A>T c.(6199-6201)Aag>Tag p.K2067* SETD2_ENST00000492397.1_5'UTR NM_014159.6 NP_054878.5 Q9BYW2 SETD2_HUMAN SET domain containing 2 2067 regulation of transcription, DNA-dependent|transcription, DNA-dependent chromosome|nucleus DNA binding|histone-lysine N-methyltransferase activity|oxidoreductase activity|transition metal ion binding p.K1564*(1)|p.K2067*(1) breast(6)|central_nervous_system(5)|endometrium(4)|kidney(63)|large_intestine(18)|lung(26)|ovary(6)|prostate(2)|skin(3)|soft_tissue(1)|stomach(2)|urinary_tract(5) 141 Acute lymphoblastic leukemia(5;0.0169) BRCA - Breast invasive adenocarcinoma(193;0.000302)|KIRC - Kidney renal clear cell carcinoma(197;0.00732)|Kidney(197;0.00844) TGAGTTTGCTTGTCTGGGTCT 0.478000 """N, F, S, Mis""" clear cell renal carcinoma 123 304 0 0 0.139131 0 0 ATF6 22926 broad.mit.edu 37 1 161816357 161816357 + Frame_Shift_Del DEL A A - TCGA-67-6216-01A-11D-1753-08 TCGA-67-6216-10A-01D-1753-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6dc6da8c-2ecf-412f-b2c4-74529adb7c0f c76da76a-6d03-4c51-94ed-b333c1be8ca1 g.chr1:161816357delA ENST00000367942.3 + 10 1373 c.1306delA c.(1306-1308)aafs p.K436fs ATF6_ENST00000476437.1_3'UTR NM_007348.3 NP_031374.2 P18850 ATF6A_HUMAN activating transcription factor 6 436 positive regulation of transcription from RNA polymerase II promoter involved in unfolded protein response|protein folding endoplasmic reticulum membrane|Golgi membrane|integral to membrane|nuclear envelope|nucleoplasm protein dimerization activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription coactivator activity breast(2)|endometrium(3)|kidney(2)|large_intestine(8)|lung(14)|ovary(3)|skin(1)|stomach(1) 34 all_hematologic(112;0.156) BRCA - Breast invasive adenocarcinoma(70;0.00953) TATTATCCAGAAAAACAGCTA 0.403 42 117 --- --- --- --- DESI2 51029 broad.mit.edu 37 1 244868886 244868886 + Frame_Shift_Del DEL G G - TCGA-67-6216-01A-11D-1753-08 TCGA-67-6216-10A-01D-1753-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6dc6da8c-2ecf-412f-b2c4-74529adb7c0f c76da76a-6d03-4c51-94ed-b333c1be8ca1 g.chr1:244868886delG ENST00000302550.11 + 5 759 c.380delG c.(379-381)tgfs p.W127fs DESI2_ENST00000263831.7_Frame_Shift_Del_p.W94fs NM_016076.3 NP_057160.2 Q9BSY9 PPDE1_HUMAN desumoylating isopeptidase 2 127 PPPDE peptidase. ATTCCTCGCTGGATCAATCGA 0.507 8 131 --- --- --- --- DPY19L2P2 349152 broad.mit.edu 37 7 102883498 102883498 + RNA DEL A A - TCGA-67-6216-01A-11D-1753-08 TCGA-67-6216-10A-01D-1753-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6dc6da8c-2ecf-412f-b2c4-74529adb7c0f c76da76a-6d03-4c51-94ed-b333c1be8ca1 g.chr7:102883498delA ENST00000312132.4 - 0 2616 GTACCACTGTAAAAAAAAAAA 0.284 4 6 --- --- --- --- CC2D2B 387707 broad.mit.edu 37 10 97776014 97776017 + Frame_Shift_Del DEL TTTC TTTC - TCGA-67-6216-01A-11D-1753-08 TCGA-67-6216-10A-01D-1753-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6dc6da8c-2ecf-412f-b2c4-74529adb7c0f c76da76a-6d03-4c51-94ed-b333c1be8ca1 g.chr10:97776014_97776017delTTTC ENST00000344386.3 + 6 629_632 c.465_468delTTTC c.(463-468)aafs p.NF155fs CC2D2B_ENST00000371198.2_Intron|ENTPD1-AS1_ENST00000452728.1_RNA|RP11-690P14.4_ENST00000475252.2_Intron|ENTPD1-AS1_ENST00000416301.1_RNA|ENTPD1-AS1_ENST00000454638.1_RNA|ENTPD1-AS1_ENST00000451364.1_RNA|CC2D2B_ENST00000410012.2_Frame_Shift_Del_p.NF155fs NM_001001732.3 NP_001001732.2 Q6DHV5 C2D2B_HUMAN coiled-coil and C2 domain containing 2B 155 large_intestine(1)|lung(7)|ovary(1)|urinary_tract(1) 10 Colorectal(252;0.158) Epithelial(162;7.08e-08)|all cancers(201;2.71e-06) TTCTCTGTAATTTCTTTCTGTATT 0.382 7 69 --- --- --- --- ACACB 32 broad.mit.edu 37 12 109698333 109698333 + Frame_Shift_Del DEL T T - TCGA-67-6216-01A-11D-1753-08 TCGA-67-6216-10A-01D-1753-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6dc6da8c-2ecf-412f-b2c4-74529adb7c0f c76da76a-6d03-4c51-94ed-b333c1be8ca1 g.chr12:109698333delT ENST00000338432.7 + 48 6664 c.6545delT c.(6544-6546)ctfs p.L2182fs ACACB_ENST00000377854.5_Frame_Shift_Del_p.L2112fs|ACACB_ENST00000543201.1_3'UTR|ACACB_ENST00000377848.3_Frame_Shift_Del_p.L2182fs O00763 ACACB_HUMAN acetyl-CoA carboxylase beta 2182 Carboxyltransferase. acetyl-CoA metabolic process|carnitine shuttle|energy reserve metabolic process|fatty acid biosynthetic process|positive regulation of cellular metabolic process|protein homotetramerization|regulation of fatty acid oxidation cytosol|endomembrane system|Golgi apparatus|membrane acetyl-CoA carboxylase activity|ATP binding|biotin carboxylase activity|metal ion binding|protein binding NS(1)|breast(2)|endometrium(9)|kidney(5)|large_intestine(20)|lung(40)|ovary(6)|pancreas(1)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2) 95 Biotin(DB00121) GTGGACGGCCTTAGACAATAC 0.552 49 119 --- --- --- --- APEX1 328 broad.mit.edu 37 14 20925518 20925520 + In_Frame_Del DEL ATG ATG - TCGA-67-6216-01A-11D-1753-08 TCGA-67-6216-10A-01D-1753-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6dc6da8c-2ecf-412f-b2c4-74529adb7c0f c76da76a-6d03-4c51-94ed-b333c1be8ca1 g.chr14:20925518_20925520delATG ENST00000216714.3 + 5 1076_1078 c.808_810delATG c.(808-810)del p.M271del APEX1_ENST00000398030.4_In_Frame_Del_p.M271del|APEX1_ENST00000557054.1_3'UTR|APEX1_ENST00000555414.1_In_Frame_Del_p.M271del NM_001244249.1|NM_001641.3 NP_001231178.1|NP_001632.2 P27695 APEX1_HUMAN APEX nuclease (multifunctional DNA repair enzyme) 1 271 base-excision repair|DNA demethylation|DNA recombination|positive regulation of anti-apoptosis|positive regulation of DNA repair|regulation of mRNA stability|regulation of transcription, DNA-dependent|transcription, DNA-dependent centrosome|endoplasmic reticulum|mitochondrion|nuclear speck|nucleolus|perinuclear region of cytoplasm|ribosome 3'-5' exonuclease activity|chromatin DNA binding|damaged DNA binding|DNA-(apurinic or apyrimidinic site) lyase activity|metal ion binding|oxidoreductase activity|phosphodiesterase I activity|protein binding|ribonuclease H activity|RNA binding|site-specific endodeoxyribonuclease activity, specific for altered base|transcription coactivator activity|transcription corepressor activity|uracil DNA N-glycosylase activity breast(2)|endometrium(1)|large_intestine(4)|ovary(2) 9 all_cancers(95;0.00123) all_lung(585;0.235) Epithelial(56;1.09e-07)|all cancers(55;1.19e-06) GBM - Glioblastoma multiforme(265;0.0224)|READ - Rectum adenocarcinoma(17;0.193) Lucanthone(DB04967) TTGGACTTATATGATGAATGCTC 0.502 Other BER factors 51 164 --- --- --- --- ZNF675 171392 broad.mit.edu 37 19 23845871 23845872 + Frame_Shift_Ins INS - - T TCGA-67-6216-01A-11D-1753-08 TCGA-67-6216-10A-01D-1753-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6dc6da8c-2ecf-412f-b2c4-74529adb7c0f c76da76a-6d03-4c51-94ed-b333c1be8ca1 g.chr19:23845871_23845872insT ENST00000359788.4 - 2 260_261 c.92_93insA c.(91-93)agtfs p.S31fs ZNF675_ENST00000601010.1_Frame_Shift_Ins_p.S31fs|ZNF675_ENST00000600313.1_Frame_Shift_Ins_p.S31fs|ZNF675_ENST00000601935.1_Frame_Shift_Ins_p.S31fs|ZNF675_ENST00000599168.1_Frame_Shift_Ins_p.S31fs|ZNF675_ENST00000596211.1_Frame_Shift_Ins_p.S31fs NM_138330.2 NP_612203.2 Q8TD23 ZN675_HUMAN zinc finger protein 675 31 KRAB. bone resorption|cytokine-mediated signaling pathway|hemopoiesis|I-kappaB kinase/NF-kappaB cascade|negative regulation of JNK cascade|negative regulation of osteoclast differentiation|negative regulation of protein kinase activity|negative regulation of transcription, DNA-dependent|regulation of ossification|transcription, DNA-dependent cytoplasm|nucleus DNA binding|protein binding|zinc ion binding endometrium(3)|kidney(2)|large_intestine(8)|lung(11)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1) 27 all_lung(12;0.11)|Lung NSC(12;0.163)|all_epithelial(12;0.206) CTAAAATCACATTTTTATATAA 0.386 7 189 --- --- --- ---