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 GPR32 2854 broad.mit.edu 37 19 51273918 51273918 + Missense_Mutation SNP C C T TCGA-G9-6373-01A-11D-1786-08 TCGA-G9-6373-10A-01D-1786-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0caf5af2-ae80-4f39-ac6f-c2dbc2e8b820 906935a6-9e29-4146-a7a0-d60f2507e774 g.chr19:51273918C>T ENST00000270590.4 + 1 198 c.61C>T c.(61-63)Cgt>Tgt p.R21C NM_001506.1 NP_001497.1 O75388 GPR32_HUMAN G protein-coupled receptor 32 21 integral to plasma membrane N-formyl peptide receptor activity p.R21C(1) breast(4)|endometrium(4)|kidney(1)|large_intestine(3)|lung(12)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(2) 29 all_neural(266;0.131) OV - Ovarian serous cystadenocarcinoma(262;0.00641)|GBM - Glioblastoma multiforme(134;0.028) GGTCCTGACACGTGATCGCTC 0.522000 15 44 0 0 1 0 0 BCL6 604 broad.mit.edu 37 3 187447543 187447543 + Missense_Mutation SNP C C T rs142220629 TCGA-G9-6373-01A-11D-1786-08 TCGA-G9-6373-10A-01D-1786-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0caf5af2-ae80-4f39-ac6f-c2dbc2e8b820 906935a6-9e29-4146-a7a0-d60f2507e774 g.chr3:187447543C>T ENST00000406870.2 - 5 1016 c.650G>A c.(649-651)cGg>cAg p.R217Q RP11-211G3.3_ENST00000449623.1_Intron|RP11-211G3.3_ENST00000437407.1_Intron|BCL6_ENST00000450123.2_Missense_Mutation_p.R217Q|BCL6_ENST00000232014.4_Missense_Mutation_p.R217Q NM_001706.4 NP_001697.2 P41182 BCL6_HUMAN B-cell CLL/lymphoma 6 217 negative regulation of B cell apoptosis|negative regulation of cell growth|negative regulation of S phase of mitotic cell cycle|negative regulation of transcription from RNA polymerase II promoter|positive regulation of apoptosis|protein import into nucleus, translocation|regulation of germinal center formation|response to DNA damage stimulus nucleus protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding p.R217Q(1) central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(5)|kidney(3)|large_intestine(9)|lung(10)|ovary(3)|prostate(4)|skin(1)|upper_aerodigestive_tract(1) 40 all_cancers(143;9.45e-12)|Ovarian(172;0.0418) OV - Ovarian serous cystadenocarcinoma(80;1.76e-18) GBM - Glioblastoma multiforme(93;0.0141) CACAGGCATCCGGACATCCCG 0.612000 """T, Mis""" """IG loci, ZNFN1A1, LCP1, PIM1, TFRC, CIITA, NACA, HSPCB, HSPCA, HIST1H4I, IL21R, POU2AF1, ARHH, EIF4A2, SFRS3""" """NHL, CLL""" 20 51 0 0 1 0 0 ZFYVE16 9765 broad.mit.edu 37 5 79752812 79752812 + Missense_Mutation SNP G G A TCGA-G9-6373-01A-11D-1786-08 TCGA-G9-6373-10A-01D-1786-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0caf5af2-ae80-4f39-ac6f-c2dbc2e8b820 906935a6-9e29-4146-a7a0-d60f2507e774 g.chr5:79752812G>A ENST00000338008.5 + 13 4024 c.3844G>A c.(3844-3846)Gca>Aca p.A1282T ZFYVE16_ENST00000505560.1_Missense_Mutation_p.A1282T|ZFYVE16_ENST00000510158.1_Missense_Mutation_p.A1282T NM_014733.3 NP_055548.3 Q7Z3T8 ZFY16_HUMAN zinc finger, FYVE domain containing 16 1282 BMP signaling pathway|endosome transport|protein targeting to lysosome|regulation of endocytosis|vesicle organization early endosome membrane 1-phosphatidylinositol binding|metal ion binding|phosphatidylinositol-3,4,5-trisphosphate binding|protein binding|protein transporter activity p.A1282T(1) breast(4)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(4)|kidney(5)|large_intestine(14)|liver(1)|lung(6)|ovary(2)|prostate(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 51 Lung NSC(167;0.00428)|all_lung(232;0.00455)|Ovarian(174;0.0261) OV - Ovarian serous cystadenocarcinoma(54;1.6e-46)|Epithelial(54;2.02e-41)|all cancers(79;5.05e-36) TAGCATTGGAGCAAGTTTCAG 0.343000 21 42 0 0 1 0 0 GUCY1A2 2977 broad.mit.edu 37 11 106558447 106558447 + Missense_Mutation SNP G G A TCGA-G9-6373-01A-11D-1786-08 TCGA-G9-6373-10A-01D-1786-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0caf5af2-ae80-4f39-ac6f-c2dbc2e8b820 906935a6-9e29-4146-a7a0-d60f2507e774 g.chr11:106558447G>A ENST00000526355.1 - 8 2495 c.2027C>T c.(2026-2028)cCg>cTg p.P676L GUCY1A2_ENST00000282249.2_Missense_Mutation_p.P707L|GUCY1A2_ENST00000347596.2_Missense_Mutation_p.P697L NM_000855.2 NP_000846.1 P33402 GCYA2_HUMAN guanylate cyclase 1, soluble, alpha 2 676 intracellular signal transduction|platelet activation cytoplasm GTP binding|guanylate cyclase activity|heme binding p.P676L(2) breast(5)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(18)|liver(1)|lung(32)|ovary(1)|pancreas(2)|prostate(4)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(3) 74 all_epithelial(67;3.66e-05)|Melanoma(852;0.000382)|Acute lymphoblastic leukemia(157;0.001)|all_hematologic(158;0.0017)|Breast(348;0.026)|all_neural(303;0.068) BRCA - Breast invasive adenocarcinoma(274;8.04e-05)|Epithelial(105;0.0036)|all cancers(92;0.0476) ACGAGACCGCGGAATGAATGT 0.418000 63 134 0 0 1 0 0 ACTBL2 345651 broad.mit.edu 37 5 56778328 56778328 + Missense_Mutation SNP C C A TCGA-G9-6373-01A-11D-1786-08 TCGA-G9-6373-10A-01D-1786-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0caf5af2-ae80-4f39-ac6f-c2dbc2e8b820 906935a6-9e29-4146-a7a0-d60f2507e774 g.chr5:56778328C>A ENST00000423391.1 - 1 308 c.207G>T c.(205-207)aaG>aaT p.K69N CTD-2023N9.1_ENST00000506106.1_RNA NM_001017992.3 NP_001017992.1 Q562R1 ACTBL_HUMAN actin, beta-like 2 69 cytoplasm|cytoskeleton ATP binding p.K69N(1) breast(2)|endometrium(1)|kidney(2)|large_intestine(10)|lung(7)|ovary(3)|pancreas(1)|prostate(2) 28 Lung NSC(810;0.000135)|Prostate(74;0.055)|Breast(144;0.0707)|Ovarian(174;0.182) OV - Ovarian serous cystadenocarcinoma(10;4.24e-37) CGATAGGATACTTCAGGGTCA 0.547000 21 42 1.64293e-13 1.68401e-13 1 1 0 EML4 27436 broad.mit.edu 37 2 42543187 42543187 + Missense_Mutation SNP A A T TCGA-G9-6373-01A-11D-1786-08 TCGA-G9-6373-10A-01D-1786-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0caf5af2-ae80-4f39-ac6f-c2dbc2e8b820 906935a6-9e29-4146-a7a0-d60f2507e774 g.chr2:42543187A>T ENST00000318522.5 + 18 2315 c.2053A>T c.(2053-2055)Ata>Tta p.I685L EML4_ENST00000402711.2_Missense_Mutation_p.I627L|EML4_ENST00000401738.3_Missense_Mutation_p.I696L|EML4_ENST00000453191.2_Intron NM_019063.3 NP_061936.2 Q9HC35 EMAL4_HUMAN echinoderm microtubule associated protein like 4 685 microtubule-based process|mitosis cytoplasm|microtubule protein binding p.I685L(1) EML4/ALK(543) NS(2)|breast(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|ovary(2)|skin(1)|upper_aerodigestive_tract(1) 12 GCGCTACTCAATAGGTAGGCA 0.423000 T ALK NSCLC 34 75 0 0 1 0 0 MUC3A 4584 broad.mit.edu 37 7 100607821 100607821 + Silent SNP G G A TCGA-G9-6373-01A-11D-1786-08 TCGA-G9-6373-10A-01D-1786-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0caf5af2-ae80-4f39-ac6f-c2dbc2e8b820 906935a6-9e29-4146-a7a0-d60f2507e774 g.chr7:100607821G>A ENST00000319509.7 + 5 1968 c.1968G>A c.(1966-1968)gaG>gaA p.E656E RP11-395B7.2_ENST00000434775.1_RNA|RP11-395B7.2_ENST00000420080.1_RNA mucin 3A, cell surface associated p.E656E(2) breast(3)|central_nervous_system(3)|endometrium(1)|kidney(1)|large_intestine(1)|lung(32)|prostate(3) 44 GCGAGTATGAGCAGGTGAAGA 0.637000 17 130 0 0 1 0 0 KLHDC7B 113730 broad.mit.edu 37 22 50987891 50987891 + Silent SNP G G A TCGA-G9-6373-01A-11D-1786-08 TCGA-G9-6373-10A-01D-1786-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0caf5af2-ae80-4f39-ac6f-c2dbc2e8b820 906935a6-9e29-4146-a7a0-d60f2507e774 g.chr22:50987891G>A ENST00000395676.2 + 1 1430 c.1296G>A c.(1294-1296)gcG>gcA p.A432A NM_138433.3 NP_612442.2 Q96G42 KLD7B_HUMAN kelch domain containing 7B 432 p.A333A(1) central_nervous_system(1)|cervix(1)|kidney(1)|large_intestine(1)|lung(4)|ovary(1)|prostate(2)|skin(2)|urinary_tract(1) 14 all_cancers(38;1.53e-10)|all_epithelial(38;1.82e-09)|Breast(42;0.000448)|all_lung(38;0.000665)|Lung NSC(38;0.0104)|Ovarian(80;0.104)|Lung SC(80;0.162)|Hepatocellular(38;0.178) OV - Ovarian serous cystadenocarcinoma(4;7.49e-69)|all cancers(3;9.79e-66)|Epithelial(4;1.3e-63)|GBM - Glioblastoma multiforme(4;0.000399)|Lung(4;0.125)|BRCA - Breast invasive adenocarcinoma(115;0.205)|LUAD - Lung adenocarcinoma(64;0.247) CCCCACGCGCGCCACTCCCCG 0.672000 51 116 0 0 1 0 0 MLLT3 4300 broad.mit.edu 37 9 20414343 20414343 + Silent SNP A A G TCGA-G9-6373-01A-11D-1786-08 TCGA-G9-6373-10A-01D-1786-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0caf5af2-ae80-4f39-ac6f-c2dbc2e8b820 906935a6-9e29-4146-a7a0-d60f2507e774 g.chr9:20414343A>G ENST00000380338.4 - 5 787 c.501T>C c.(499-501)agT>agC p.S167S MLLT3_ENST00000475957.1_5'UTR|MLLT3_ENST00000355930.6_5'UTR|MLLT3_ENST00000429426.2_Silent_p.S164S NM_004529.2 NP_004520.2 P42568 AF9_HUMAN myeloid/lymphoid or mixed-lineage leukemia (trithorax homolog, Drosophila); translocated to, 3 167 Poly-Ser. regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus protein binding p.S167S(19) central_nervous_system(1)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(6)|lung(24)|ovary(1)|prostate(4)|skin(1)|urinary_tract(7) 66 GBM - Glioblastoma multiforme(3;4.35e-105)|Lung(42;3.48e-06)|LUSC - Lung squamous cell carcinoma(42;7.92e-05) tgctgctgctactgctgctgc 0.532000 T MLL ALL 9 71 0 0 1 0 0 KIAA1210 57481 broad.mit.edu 37 X 118238971 118238971 + Missense_Mutation SNP C C A TCGA-G9-6373-01A-11D-1786-08 TCGA-G9-6373-10A-01D-1786-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0caf5af2-ae80-4f39-ac6f-c2dbc2e8b820 906935a6-9e29-4146-a7a0-d60f2507e774 g.chrX:118238971C>A ENST00000402510.2 - 7 1051 c.1052G>T c.(1051-1053)aGt>aTt p.S351I NM_020721.1 NP_065772.1 Q9ULL0 K1210_HUMAN KIAA1210 351 breast(3)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|lung(31)|ovary(4)|prostate(2)|skin(3)|stomach(1)|urinary_tract(1) 64 CGCTGTCAAACTCTTATGTGG 0.418000 9 195 0.000673444 0.000673444 1 1 0 KIAA1467 57613 broad.mit.edu 37 12 13208628 13208628 + Missense_Mutation SNP G G A TCGA-G9-6373-01A-11D-1786-08 TCGA-G9-6373-10A-01D-1786-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0caf5af2-ae80-4f39-ac6f-c2dbc2e8b820 906935a6-9e29-4146-a7a0-d60f2507e774 g.chr12:13208628G>A ENST00000197268.8 + 2 301 c.181G>A c.(181-183)Gac>Aac p.D61N NM_020853.1 NP_065904.1 A2RU67 K1467_HUMAN KIAA1467 61 integral to membrane p.D61N(1) NS(1)|central_nervous_system(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|lung(13)|ovary(1)|prostate(1)|skin(4) 36 Prostate(47;0.184) BRCA - Breast invasive adenocarcinoma(232;0.157) GCCAGAACCCGACTCAGATGC 0.557000 47 86 0 0 1 0 0 PLCH1 23007 broad.mit.edu 37 3 155206588 155206588 + Silent SNP G G A TCGA-G9-6373-01A-11D-1786-08 TCGA-G9-6373-10A-01D-1786-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0caf5af2-ae80-4f39-ac6f-c2dbc2e8b820 906935a6-9e29-4146-a7a0-d60f2507e774 g.chr3:155206588G>A ENST00000460012.1 - 20 2667 c.2310C>T c.(2308-2310)aaC>aaT p.N770N PLCH1_ENST00000447496.2_Silent_p.N788N|PLCH1_ENST00000414191.1_Silent_p.N770N|PLCH1_ENST00000494598.1_Silent_p.N788N|PLCH1_ENST00000340059.7_Silent_p.N788N|PLCH1_ENST00000334686.6_Silent_p.N770N Q4KWH8 PLCH1_HUMAN phospholipase C, eta 1 788 C2. lipid catabolic process|phosphatidylinositol-mediated signaling membrane calcium ion binding|calcium-dependent phospholipase C activity|phosphatidylinositol phospholipase C activity|signal transducer activity p.N770N(1) NS(3)|breast(3)|endometrium(9)|kidney(4)|large_intestine(20)|lung(45)|ovary(2)|prostate(5)|skin(8)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(4) 107 Lung(72;0.11)|LUSC - Lung squamous cell carcinoma(72;0.114) CCCACACAGGGTTAAATCCTC 0.428000 22 46 0 0 1 0 0 HPGD 3248 broad.mit.edu 37 4 175416699 175416699 + Splice_Site SNP C C A TCGA-G9-6373-01A-11D-1786-08 TCGA-G9-6373-10A-01D-1786-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0caf5af2-ae80-4f39-ac6f-c2dbc2e8b820 906935a6-9e29-4146-a7a0-d60f2507e774 g.chr4:175416699C>A ENST00000296522.6 - 5 944 c.498_splice c.e5+1 p.A166_splice HPGD_ENST00000510901.1_Splice_Site_p.A45_splice|HPGD_ENST00000542498.1_Intron|HPGD_ENST00000422112.2_Splice_Site_p.A98_splice|HPGD_ENST00000296521.7_Splice_Site_p.A166_splice|HPGD_ENST00000541923.1_Splice_Site_p.A45_splice NM_000860.5|NM_001145816.2|NM_001256301.1|NM_001256307.1 NP_000851.2|NP_001139288.1|NP_001243230.1|NP_001243236.1 P15428 PGDH_HUMAN hydroxyprostaglandin dehydrogenase 15-(NAD) 166 female pregnancy|lipoxygenase pathway|negative regulation of cell cycle|parturition|prostaglandin metabolic process|transforming growth factor beta receptor signaling pathway cytosol|nucleus 15-hydroxyprostaglandin dehydrogenase (NAD+) activity|NAD+ binding|prostaglandin E receptor activity|protein homodimerization activity p.A166A(1) kidney(1)|lung(3)|prostate(3) 7 Prostate(90;0.00763)|Melanoma(52;0.0179)|Renal(120;0.0376)|Breast(14;0.0991)|all_hematologic(60;0.124)|all_neural(102;0.196) all cancers(43;2.6e-18)|Epithelial(43;4.19e-16)|OV - Ovarian serous cystadenocarcinoma(60;5.23e-09)|GBM - Glioblastoma multiforme(59;0.00176)|STAD - Stomach adenocarcinoma(60;0.00299)|LUSC - Lung squamous cell carcinoma(193;0.0253) NADH(DB00157) GTAGCCTCACCGCTGCTGAGC 0.408000 39 51 9.39024e-22 1.01316e-21 1 1 0 SSH1 54434 broad.mit.edu 37 12 109192926 109192926 + Missense_Mutation SNP G G A TCGA-G9-6373-01A-11D-1786-08 TCGA-G9-6373-10A-01D-1786-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0caf5af2-ae80-4f39-ac6f-c2dbc2e8b820 906935a6-9e29-4146-a7a0-d60f2507e774 g.chr12:109192926G>A ENST00000326495.5 - 13 1292 c.1199C>T c.(1198-1200)tCg>tTg p.S400L SSH1_ENST00000326470.5_Missense_Mutation_p.S411L|SSH1_ENST00000551165.1_Missense_Mutation_p.S400L|SSH1_ENST00000360239.3_Missense_Mutation_p.S88L NM_018984.3 NP_061857.3 Q8WYL5 SSH1_HUMAN slingshot protein phosphatase 1 400 Tyrosine-protein phosphatase. actin cytoskeleton organization|cell morphogenesis|cellular response to ATP|regulation of actin polymerization or depolymerization|regulation of axonogenesis|regulation of cellular protein metabolic process|regulation of lamellipodium assembly cleavage furrow|cytoplasm|cytoskeleton|lamellipodium|midbody|plasma membrane actin binding|protein tyrosine phosphatase activity|protein tyrosine/serine/threonine phosphatase activity breast(1)|endometrium(5)|kidney(3)|large_intestine(9)|lung(8)|ovary(4)|prostate(2)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1) 38 TGTGGAGGCCGAGCGACTCAC 0.557000 6 37 0 0 1 0 0 BAGE2 85319 broad.mit.edu 37 21 11047499 11047499 + RNA SNP G G T TCGA-G9-6373-01A-11D-1786-08 TCGA-G9-6373-10A-01D-1786-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0caf5af2-ae80-4f39-ac6f-c2dbc2e8b820 906935a6-9e29-4146-a7a0-d60f2507e774 g.chr21:11047499G>T ENST00000470054.1 - 0 755 B melanoma antigen family, member 2 Colorectal(6;3.44e-05)|COAD - Colon adenocarcinoma(6;0.00727)|READ - Rectum adenocarcinoma(6;0.0723) UCEC - Uterine corpus endometrioid carcinoma (6;0.0974)|all cancers(6;2.54e-22)|Epithelial(6;4.21e-19)|OV - Ovarian serous cystadenocarcinoma(6;1.16e-09)|BRCA - Breast invasive adenocarcinoma(6;7.72e-05)|Lung(8;0.000189)|LUSC - Lung squamous cell carcinoma(6;0.00379)|GBM - Glioblastoma multiforme(6;0.00391)|Kidney(17;0.0773)|LUAD - Lung adenocarcinoma(8;0.247) TCCAGCCGTTGGTTGGTACAG 0.343000 42 572 3.76604e-16 3.95917e-16 1 1 0 SCN5A 6331 broad.mit.edu 37 3 38627292 38627292 + Missense_Mutation SNP G G A TCGA-G9-6373-01A-11D-1786-08 TCGA-G9-6373-10A-01D-1786-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0caf5af2-ae80-4f39-ac6f-c2dbc2e8b820 906935a6-9e29-4146-a7a0-d60f2507e774 g.chr3:38627292G>A ENST00000413689.1 - 16 2870 c.2677C>T c.(2677-2679)Cgc>Tgc p.R893C SCN5A_ENST00000425664.1_Missense_Mutation_p.R893C|SCN5A_ENST00000423572.2_Missense_Mutation_p.R893C|SCN5A_ENST00000414099.2_Missense_Mutation_p.R893C|SCN5A_ENST00000333535.4_Missense_Mutation_p.R893C|SCN5A_ENST00000443581.1_Missense_Mutation_p.R893C|SCN5A_ENST00000455624.2_Missense_Mutation_p.R893C|SCN5A_ENST00000451551.2_Missense_Mutation_p.R893C|SCN5A_ENST00000450102.2_Missense_Mutation_p.R893C|SCN5A_ENST00000449557.2_Missense_Mutation_p.R893C NM_001099404.1|NM_001160160.1 NP_001092874.1|NP_001153632.1 Q14524 SCN5A_HUMAN sodium channel, voltage-gated, type V, alpha subunit 893 blood circulation|cellular response to calcium ion|muscle contraction|regulation of heart contraction sarcolemma|voltage-gated sodium channel complex protein binding|voltage-gated sodium channel activity p.R893C(2) NS(3)|breast(2)|central_nervous_system(3)|cervix(2)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(25)|lung(27)|ovary(6)|pancreas(3)|prostate(10)|skin(9)|upper_aerodigestive_tract(4) 107 Medulloblastoma(35;0.163) KIRC - Kidney renal clear cell carcinoma(284;0.0822)|Kidney(284;0.1) Benzonatate(DB00868)|Bepridil(DB01244)|Carbamazepine(DB00564)|Cocaine(DB00907)|Dibucaine(DB00527)|Disopyramide(DB00280)|Encainide(DB01228)|Ethotoin(DB00754)|Flecainide(DB01195)|Fosphenytoin(DB01320)|Hexylcaine(DB00473)|Indecainide(DB00192)|Lamotrigine(DB00555)|Lidocaine(DB00281)|Mephenytoin(DB00532)|Mexiletine(DB00379)|Mibefradil(DB01388)|Moricizine(DB00680)|Oxcarbazepine(DB00776)|Phenytoin(DB00252)|Prilocaine(DB00750)|Procainamide(DB01035)|Propafenone(DB01182)|Quinidine(DB00908)|Riluzole(DB00740)|Tocainide(DB01056)|Verapamil(DB00661) CAGAGGATGCGGAAGATGATG 0.547000 9 221 0 0 1 0 0 MED13L 23389 broad.mit.edu 37 12 116446812 116446812 + Missense_Mutation SNP G G A TCGA-G9-6373-01A-11D-1786-08 TCGA-G9-6373-10A-01D-1786-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0caf5af2-ae80-4f39-ac6f-c2dbc2e8b820 906935a6-9e29-4146-a7a0-d60f2507e774 g.chr12:116446812G>A ENST00000281928.3 - 10 1612 c.1406C>T c.(1405-1407)aCa>aTa p.T469I NM_015335.4 NP_056150.1 Q71F56 MD13L_HUMAN mediator complex subunit 13-like 469 regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent p.T469I(1) NS(2)|breast(1)|endometrium(9)|kidney(3)|large_intestine(18)|lung(34)|ovary(4)|prostate(4)|skin(6)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2) 85 all_neural(191;0.117)|Medulloblastoma(191;0.163) BRCA - Breast invasive adenocarcinoma(302;0.0407) TCTTTCTGCTGTTTTGTGCTT 0.478000 101 145 0 0 1 0 0 TBP 6908 broad.mit.edu 37 6 170871052 170871052 + Silent SNP G G A rs112083427 TCGA-G9-6373-01A-11D-1786-08 TCGA-G9-6373-10A-01D-1786-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0caf5af2-ae80-4f39-ac6f-c2dbc2e8b820 906935a6-9e29-4146-a7a0-d60f2507e774 g.chr6:170871052G>A ENST00000392092.2 + 3 507 c.228G>A c.(226-228)caG>caA p.Q76Q TBP_ENST00000230354.6_Silent_p.Q76Q|TBP_ENST00000540980.1_Silent_p.Q56Q NM_003194.4 NP_003185.1 P20226 TBP_HUMAN TATA box binding protein 76 Poly-Gln. cell death|interspecies interaction between organisms|transcription elongation from RNA polymerase II promoter|transcription from RNA polymerase III promoter|viral reproduction transcription factor TFIIA complex|transcription factor TFIID complex repressing transcription factor binding|transcription regulatory region DNA binding p.Q76Q(4) breast(2)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(2)|lung(9)|ovary(1)|prostate(4)|urinary_tract(1) 26 Breast(66;5.08e-05)|Ovarian(120;0.125)|Esophageal squamous(34;0.246) OV - Ovarian serous cystadenocarcinoma(33;1.07e-22)|BRCA - Breast invasive adenocarcinoma(81;5.01e-06)|GBM - Glioblastoma multiforme(31;0.00591) agcaacagcagcagcagcagc 0.572000 4 64 0 0 1 0 0 ASB1 51665 broad.mit.edu 37 2 239344476 239344476 + Missense_Mutation SNP C C G TCGA-G9-6373-01A-11D-1786-08 TCGA-G9-6373-10A-01D-1786-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0caf5af2-ae80-4f39-ac6f-c2dbc2e8b820 906935a6-9e29-4146-a7a0-d60f2507e774 g.chr2:239344476C>G ENST00000264607.4 + 3 563 c.316C>G c.(316-318)Ctg>Gtg p.L106V ASB1_ENST00000469885.1_3'UTR|ASB1_ENST00000409297.1_Intron NM_001040445.1 NP_001035535.1 Q9Y576 ASB1_HUMAN ankyrin repeat and SOCS box containing 1 106 intracellular signal transduction|negative regulation of cytokine biosynthetic process breast(1)|kidney(1)|large_intestine(3)|lung(2)|skin(1) 8 all_epithelial(40;2.65e-14)|Breast(86;7.61e-05)|Renal(207;0.00183)|all_lung(227;0.0283)|Ovarian(221;0.0365)|Lung NSC(271;0.0941)|all_hematologic(139;0.158)|Melanoma(123;0.203)|Hepatocellular(293;0.244) Epithelial(121;2.04e-26)|OV - Ovarian serous cystadenocarcinoma(60;4.5e-12)|Kidney(56;3.04e-09)|KIRC - Kidney renal clear cell carcinoma(57;6.5e-08)|BRCA - Breast invasive adenocarcinoma(100;2.88e-05)|Lung(119;0.000383)|LUSC - Lung squamous cell carcinoma(224;0.00644) CGAGGTGGATCTGGTGGACGT 0.632000 6 104 0 0 1 0 0 COL22A1 169044 broad.mit.edu 37 8 139662012 139662012 + Missense_Mutation SNP T T C TCGA-G9-6373-01A-11D-1786-08 TCGA-G9-6373-10A-01D-1786-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0caf5af2-ae80-4f39-ac6f-c2dbc2e8b820 906935a6-9e29-4146-a7a0-d60f2507e774 g.chr8:139662012T>C ENST00000303045.6 - 46 3789 c.3343A>G c.(3343-3345)Aat>Gat p.N1115D COL22A1_ENST00000435777.1_Missense_Mutation_p.N1095D|COL22A1_ENST00000341807.4_5'UTR NM_152888.1 NP_690848.1 Q8NFW1 COMA1_HUMAN collagen, type XXII, alpha 1 1115 Gly-rich.|Pro-rich. cell adhesion collagen|cytoplasm structural molecule activity p.N1115D(1) breast(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(2)|kidney(14)|large_intestine(29)|lung(107)|ovary(13)|pancreas(1)|prostate(3)|skin(12)|upper_aerodigestive_tract(15)|urinary_tract(4) 211 all_epithelial(106;1.55e-12)|Lung NSC(106;1.67e-05)|all_lung(105;3.39e-05)|Ovarian(258;0.00672)|Acute lymphoblastic leukemia(118;0.155) BRCA - Breast invasive adenocarcinoma(115;0.0517) GGGCAGTCATTGCACACATCC 0.532000 HNSCC(7;0.00092) 27 31 0 0 1 0 0 GSTT1 2952 broad.mit.edu 37 22 24384213 24384213 + Silent SNP G G A TCGA-G9-6373-01A-11D-1786-08 TCGA-G9-6373-10A-01D-1786-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0caf5af2-ae80-4f39-ac6f-c2dbc2e8b820 906935a6-9e29-4146-a7a0-d60f2507e774 g.chr22:24384213G>A ENST00000248935.5 - 1 71 c.19C>T c.(19-21)Ctg>Ttg p.L7L GSTT1_ENST00000439996.2_5'UTR NM_000853.2 NP_000844.2 P30711 GSTT1_HUMAN glutathione S-transferase theta 1 7 GST N-terminal. glutathione metabolic process cytosol|soluble fraction glutathione peroxidase activity|glutathione transferase activity p.L7L(1) cervix(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|ovary(1)|prostate(1)|skin(1) 6 Glutathione(DB00143) AGCAGGTCCAGGTACAGCTCC 0.587000 Myelodysplasia and Acute Myeloid Leukemia (AML), Familial 58 81 0 0 1 0 0 NAF1 92345 broad.mit.edu 37 4 164050124 164050124 + Silent SNP T T G TCGA-G9-6373-01A-11D-1786-08 TCGA-G9-6373-10A-01D-1786-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0caf5af2-ae80-4f39-ac6f-c2dbc2e8b820 906935a6-9e29-4146-a7a0-d60f2507e774 g.chr4:164050124T>G ENST00000274054.2 - 8 1603 c.1410A>C c.(1408-1410)ccA>ccC p.P470P NAF1_ENST00000509434.1_Intron|NAF1_ENST00000422287.2_Intron NM_138386.2 NP_612395.2 Q96HR8 NAF1_HUMAN nuclear assembly factor 1 ribonucleoprotein 470 Pro-rich. rRNA processing|snRNA pseudouridine synthesis cytoplasm|nucleus|small nucleolar ribonucleoprotein complex protein binding|snoRNA binding NS(1)|autonomic_ganglia(1)|endometrium(3)|kidney(3)|large_intestine(1)|lung(10)|ovary(2) 21 all_hematologic(180;0.166) Prostate(90;0.109) ggggagggggtgggggtaggg 0.522000 3 3 0 0 1 0 0 BAZ2B 29994 broad.mit.edu 37 2 160287661 160287661 + Missense_Mutation SNP T T C TCGA-G9-6373-01A-11D-1786-08 TCGA-G9-6373-10A-01D-1786-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0caf5af2-ae80-4f39-ac6f-c2dbc2e8b820 906935a6-9e29-4146-a7a0-d60f2507e774 g.chr2:160287661T>C ENST00000392783.2 - 10 2402 c.1907A>G c.(1906-1908)gAt>gGt p.D636G BAZ2B_ENST00000392782.1_Missense_Mutation_p.D634G|BAZ2B_ENST00000355831.2_Missense_Mutation_p.D636G|BAZ2B_ENST00000343439.5_Intron NM_013450.2 NP_038478.2 Q9UIF8 BAZ2B_HUMAN bromodomain adjacent to zinc finger domain, 2B 636 Asp/Glu-rich (acidic). regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|protein binding|zinc ion binding p.D636G(1) NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(11)|large_intestine(7)|liver(2)|lung(41)|ovary(3)|prostate(1)|skin(2)|soft_tissue(1)|urinary_tract(1) 82 TGAATTACTATCTGATTCTGG 0.343000 16 34 0 0 1 0 0 LRP1B 53353 broad.mit.edu 37 2 141680622 141680622 + Missense_Mutation SNP T T G TCGA-G9-6373-01A-11D-1786-08 TCGA-G9-6373-10A-01D-1786-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0caf5af2-ae80-4f39-ac6f-c2dbc2e8b820 906935a6-9e29-4146-a7a0-d60f2507e774 g.chr2:141680622T>G ENST00000389484.3 - 21 4202 c.3231A>C c.(3229-3231)aaA>aaC p.K1077N NM_018557.2 NP_061027.2 Q9NZR2 LRP1B_HUMAN low density lipoprotein receptor-related protein 1B 1077 LDL-receptor class A 8. protein transport|receptor-mediated endocytosis integral to membrane calcium ion binding p.K1077N(1) 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) CTTCACAGTCTTTTTCTCCAT 0.418000 TSP Lung(27;0.18) 47 113 0 0 1 0 0 LAMC1 3915 broad.mit.edu 37 1 183077436 183077436 + Missense_Mutation SNP G G A TCGA-G9-6373-01A-11D-1786-08 TCGA-G9-6373-10A-01D-1786-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0caf5af2-ae80-4f39-ac6f-c2dbc2e8b820 906935a6-9e29-4146-a7a0-d60f2507e774 g.chr1:183077436G>A ENST00000258341.4 + 3 1006 c.749G>A c.(748-750)aGa>aAa p.R250K NM_002293.3 NP_002284.3 P11047 LAMC1_HUMAN laminin, gamma 1 (formerly LAMB2) 250 Laminin N-terminal. axon guidance|cell migration|endoderm development|extracellular matrix disassembly|hemidesmosome assembly|positive regulation of epithelial cell proliferation|protein complex assembly|substrate adhesion-dependent cell spreading extracellular space|laminin-1 complex|laminin-10 complex|laminin-11 complex extracellular matrix structural constituent p.R250K(2) NS(2)|breast(5)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(17)|lung(27)|ovary(3)|prostate(2)|skin(3)|upper_aerodigestive_tract(3) 76 Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Tenecteplase(DB00031) ACTGACATCAGAGTAACTCTT 0.378000 15 106 0 0 1 0 0 DST 667 broad.mit.edu 37 6 56417898 56417898 + Missense_Mutation SNP C C T TCGA-G9-6373-01A-11D-1786-08 TCGA-G9-6373-10A-01D-1786-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0caf5af2-ae80-4f39-ac6f-c2dbc2e8b820 906935a6-9e29-4146-a7a0-d60f2507e774 g.chr6:56417898C>T ENST00000370754.5 - 61 15598 c.15599G>A c.(15598-15600)aGc>aAc p.S5200N DST_ENST00000421834.2_Missense_Mutation_p.S2934N|DST_ENST00000370788.2_Missense_Mutation_p.S2934N|DST_ENST00000361203.3_Missense_Mutation_p.S5020N|DST_ENST00000370769.4_Missense_Mutation_p.S5022N|DST_ENST00000312431.6_3'UTR|DST_ENST00000446842.2_Missense_Mutation_p.S4696N|DST_ENST00000244364.6_Missense_Mutation_p.S2608N Q03001 DYST_HUMAN dystonin 5020 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 p.S2608N(1)|p.S5022N(1) 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) ACTGAGCAAGCTATTGGCTGT 0.413000 98 183 0 0 1 0 0 CRIM1 51232 broad.mit.edu 37 2 36691752 36691752 + Silent SNP C C T TCGA-G9-6373-01A-11D-1786-08 TCGA-G9-6373-10A-01D-1786-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0caf5af2-ae80-4f39-ac6f-c2dbc2e8b820 906935a6-9e29-4146-a7a0-d60f2507e774 g.chr2:36691752C>T ENST00000280527.2 + 5 1312 c.945C>T c.(943-945)ggC>ggT p.G315G NM_016441.2 NP_057525.1 Q9NZV1 CRIM1_HUMAN cysteine rich transmembrane BMP regulator 1 (chordin-like) 315 nervous system development|regulation of cell growth extracellular region|integral to membrane|plasma membrane insulin-like growth factor binding|insulin-like growth factor receptor activity|serine-type endopeptidase inhibitor activity p.G315G(1) autonomic_ganglia(1)|breast(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(15)|liver(2)|lung(11)|ovary(2)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2) 45 all_hematologic(82;0.131)|Acute lymphoblastic leukemia(82;0.154) TCTCTCGTGGCGATGGGACAC 0.502000 64 239 0 0 1 0 0 DSTYK 25778 broad.mit.edu 37 1 205126469 205126469 + Missense_Mutation SNP C C T TCGA-G9-6373-01A-11D-1786-08 TCGA-G9-6373-10A-01D-1786-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0caf5af2-ae80-4f39-ac6f-c2dbc2e8b820 906935a6-9e29-4146-a7a0-d60f2507e774 g.chr1:205126469C>T ENST00000367162.3 - 10 2314 c.2284G>A c.(2284-2286)Gtg>Atg p.V762M DSTYK_ENST00000367161.3_Missense_Mutation_p.V762M|DSTYK_ENST00000367160.4_Intron NM_015375.2 NP_056190.1 Q6XUX3 DUSTY_HUMAN dual serine/threonine and tyrosine protein kinase 762 Protein kinase. cytoplasm ATP binding|protein binding|protein serine/threonine kinase activity|protein tyrosine kinase activity p.V223M(1)|p.V762M(1) breast(2)|kidney(1)|large_intestine(1)|lung(7)|prostate(1)|skin(2) 14 ATTCCCTCCACCACATCTAGT 0.473000 42 96 0 0 1 0 0 DCLRE1A 9937 broad.mit.edu 37 10 115612543 115612543 + Missense_Mutation SNP T T C TCGA-G9-6373-01A-11D-1786-08 TCGA-G9-6373-10A-01D-1786-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0caf5af2-ae80-4f39-ac6f-c2dbc2e8b820 906935a6-9e29-4146-a7a0-d60f2507e774 g.chr10:115612543T>C ENST00000361384.2 - 1 1316 c.399A>G c.(397-399)atA>atG p.I133M DCLRE1A_ENST00000369305.1_Missense_Mutation_p.I133M NM_014881.3 NP_055696.3 Q6PJP8 DCR1A_HUMAN DNA cross-link repair 1A 133 Nuclear localization region. cell division|mitosis nucleus hydrolase activity breast(2)|central_nervous_system(1)|cervix(2)|endometrium(2)|kidney(2)|large_intestine(10)|lung(8)|prostate(1)|skin(2)|urinary_tract(1) 31 Epithelial(162;0.0157)|all cancers(201;0.0171) GTGTCTGCCCTATCAATGAGG 0.413000 Other identified genes with known or suspected DNA repair function 12 128 0 0 1 0 0 HOOK3 84376 broad.mit.edu 37 8 42852766 42852766 + Missense_Mutation SNP T T C TCGA-G9-6373-01A-11D-1786-08 TCGA-G9-6373-10A-01D-1786-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0caf5af2-ae80-4f39-ac6f-c2dbc2e8b820 906935a6-9e29-4146-a7a0-d60f2507e774 g.chr8:42852766T>C ENST00000307602.4 + 16 1806 c.1606T>C c.(1606-1608)Tca>Cca p.S536P NM_032410.3 NP_115786.1 Q86VS8 HOOK3_HUMAN hook microtubule-tethering protein 3 536 cytoplasmic microtubule organization|early endosome to late endosome transport|endosome organization|endosome to lysosome transport|Golgi localization|interkinetic nuclear migration|lysosome organization|microtubule anchoring|negative regulation of neurogenesis|protein localization to centrosome|protein transport cis-Golgi network|FHF complex|microtubule|pericentriolar material identical protein binding|microtubule binding p.S536P(1) NS(1)|breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|lung(10)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(2) 31 Ovarian(28;0.01)|Prostate(17;0.0119)|Lung SC(25;0.184) all_lung(54;0.000105)|Lung NSC(58;0.000419)|Hepatocellular(245;0.0524)|Renal(179;0.0822)|Esophageal squamous(32;0.129) Lung(22;0.048)|LUSC - Lung squamous cell carcinoma(45;0.114) GGATCAAGGCTCAAAAGCAGA 0.308000 T RET papillary thyroid 15 59 0 0 1 0 0 C1orf106 55765 broad.mit.edu 37 1 200878355 200878355 + Silent SNP C C T TCGA-G9-6373-01A-11D-1786-08 TCGA-G9-6373-10A-01D-1786-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0caf5af2-ae80-4f39-ac6f-c2dbc2e8b820 906935a6-9e29-4146-a7a0-d60f2507e774 g.chr1:200878355C>T ENST00000367342.4 + 8 1244 c.1044C>T c.(1042-1044)agC>agT p.S348S C1orf106_ENST00000413687.2_Silent_p.S263S NM_018265.3 NP_060735.3 Q3KP66 CA106_HUMAN chromosome 1 open reading frame 106 348 Pro-rich. endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(6)|ovary(1)|prostate(2)|skin(3)|stomach(1)|urinary_tract(2) 21 TTTGCAGCAGCCCAGCCACCA 0.602000 34 89 0 0 1 0 0 APBA1 320 broad.mit.edu 37 9 72131722 72131722 + Silent SNP G G A TCGA-G9-6373-01A-11D-1786-08 TCGA-G9-6373-10A-01D-1786-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0caf5af2-ae80-4f39-ac6f-c2dbc2e8b820 906935a6-9e29-4146-a7a0-d60f2507e774 g.chr9:72131722G>A ENST00000265381.4 - 2 627 c.405C>T c.(403-405)gcC>gcT p.A135A NM_001163.3 NP_001154.2 Q02410 APBA1_HUMAN amyloid beta (A4) precursor protein-binding, family A, member 1 135 axon cargo transport|cell adhesion|intracellular protein transport|nervous system development|protein complex assembly|synaptic transmission synaptic vesicle p.A135A(1) endometrium(4)|kidney(2)|large_intestine(12)|lung(13)|prostate(3)|skin(3) 37 CGGCGTGCTCGGCCTCTGCCT 0.692000 24 54 0 0 1 0 0 RP11-798G7.5 0 broad.mit.edu 37 17 43587569 43587569 + RNA SNP G G C rs149697015 by1000genomes TCGA-G9-6373-01A-11D-1786-08 TCGA-G9-6373-10A-01D-1786-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0caf5af2-ae80-4f39-ac6f-c2dbc2e8b820 906935a6-9e29-4146-a7a0-d60f2507e774 g.chr17:43587569G>C ENST00000253803.2 + 0 267 LRRC37A4P_ENST00000579913.1_RNA aactccgtctgaaaagaaaag 0.443000 8 88 0 0 1 0 0 FOXP2 93986 broad.mit.edu 37 7 114270000 114270000 + Silent SNP G G A TCGA-G9-6373-01A-11D-1786-08 TCGA-G9-6373-10A-01D-1786-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0caf5af2-ae80-4f39-ac6f-c2dbc2e8b820 906935a6-9e29-4146-a7a0-d60f2507e774 g.chr7:114270000G>A ENST00000393500.3 + 11 1132 c.312G>A c.(310-312)caG>caA p.Q104Q FOXP2_ENST00000360232.4_Silent_p.Q179Q|FOXP2_ENST00000393498.2_Silent_p.Q159Q|FOXP2_ENST00000393489.3_Silent_p.Q87Q|FOXP2_ENST00000408937.3_Silent_p.Q204Q|FOXP2_ENST00000393494.2_Silent_p.Q179Q|FOXP2_ENST00000393491.3_Silent_p.Q87Q|FOXP2_ENST00000403559.4_Silent_p.Q196Q|AC020606.1_ENST00000580664.1_RNA|FOXP2_ENST00000378237.3_Silent_p.Q179Q|FOXP2_ENST00000350908.4_Silent_p.Q179Q|FOXP2_ENST00000390668.3_Silent_p.Q203Q O15409 FOXP2_HUMAN forkhead box P2 179 Gln-rich. camera-type eye development|caudate nucleus development|cerebellum development|cerebral cortex development|embryo development|growth|lung alveolus development|negative regulation of transcription, DNA-dependent|pattern specification process|positive regulation of epithelial cell proliferation involved in lung morphogenesis|positive regulation of mesenchymal cell proliferation|post-embryonic development|putamen development|regulation of sequence-specific DNA binding transcription factor activity|righting reflex|skeletal muscle tissue development|smooth muscle tissue development|vocal learning cytoplasm|transcription factor complex chromatin binding|DNA bending activity|double-stranded DNA binding|promoter binding|protein heterodimerization activity|protein homodimerization activity|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|specific RNA polymerase II transcription factor activity|specific transcriptional repressor activity|transcription activator activity|transcription factor binding|zinc ion binding p.Q204Q(1) breast(3)|endometrium(7)|kidney(4)|large_intestine(7)|lung(22)|ovary(4)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2) 52 agcaacaacagcagcagcagc 0.498000 6 96 0 0 1 0 0 PRMT8 56341 broad.mit.edu 37 12 3649787 3649787 + Missense_Mutation SNP T T C TCGA-G9-6373-01A-11D-1786-08 TCGA-G9-6373-11A-01D-1786-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0caf5af2-ae80-4f39-ac6f-c2dbc2e8b820 c817606e-6c86-4fec-a7c7-e514459e4aba g.chr12:3649787T>C ENST00000382622.3 + 2 481 c.91T>C c.(91-93)Tcc>Ccc p.S31P PRMT8_ENST00000261252.4_3'UTR|PRMT8_ENST00000452611.2_Missense_Mutation_p.S22P NM_019854.4 NP_062828.3 Q9NR22 ANM8_HUMAN protein arginine methyltransferase 8 31 regulation of protein binding cytoplasm|plasma membrane histone-arginine N-methyltransferase activity|protein heterodimerization activity|protein homodimerization activity|protein-arginine omega-N asymmetric methyltransferase activity|protein-arginine omega-N monomethyltransferase activity breast(1)|central_nervous_system(2)|endometrium(1)|kidney(1)|large_intestine(9)|lung(14)|ovary(3)|skin(5)|upper_aerodigestive_tract(1) 37 OV - Ovarian serous cystadenocarcinoma(31;0.0109)|COAD - Colon adenocarcinoma(12;0.0264) CAGCCCCCCCTCCCAGCCCCC 0.652000 14 107 0 0 1 0 0 GPR32 2854 broad.mit.edu 37 19 51273918 51273918 + Missense_Mutation SNP C C T TCGA-G9-6373-01A-11D-1786-08 TCGA-G9-6373-11A-01D-1786-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0caf5af2-ae80-4f39-ac6f-c2dbc2e8b820 c817606e-6c86-4fec-a7c7-e514459e4aba g.chr19:51273918C>T ENST00000270590.4 + 1 198 c.61C>T c.(61-63)Cgt>Tgt p.R21C NM_001506.1 NP_001497.1 O75388 GPR32_HUMAN G protein-coupled receptor 32 21 integral to plasma membrane N-formyl peptide receptor activity p.R21C(1) breast(4)|endometrium(4)|kidney(1)|large_intestine(3)|lung(12)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(2) 29 all_neural(266;0.131) OV - Ovarian serous cystadenocarcinoma(262;0.00641)|GBM - Glioblastoma multiforme(134;0.028) GGTCCTGACACGTGATCGCTC 0.522000 15 44 0 0 1 0 0 BCL6 604 broad.mit.edu 37 3 187447543 187447543 + Missense_Mutation SNP C C T rs142220629 TCGA-G9-6373-01A-11D-1786-08 TCGA-G9-6373-11A-01D-1786-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0caf5af2-ae80-4f39-ac6f-c2dbc2e8b820 c817606e-6c86-4fec-a7c7-e514459e4aba g.chr3:187447543C>T ENST00000406870.2 - 5 1016 c.650G>A c.(649-651)cGg>cAg p.R217Q BCL6_ENST00000232014.4_Missense_Mutation_p.R217Q|RP11-211G3.3_ENST00000449623.1_Intron|BCL6_ENST00000450123.2_Missense_Mutation_p.R217Q|RP11-211G3.3_ENST00000437407.1_Intron NM_001706.4 NP_001697.2 P41182 BCL6_HUMAN B-cell CLL/lymphoma 6 217 negative regulation of B cell apoptosis|negative regulation of cell growth|negative regulation of S phase of mitotic cell cycle|negative regulation of transcription from RNA polymerase II promoter|positive regulation of apoptosis|protein import into nucleus, translocation|regulation of germinal center formation|response to DNA damage stimulus nucleus protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding p.R217Q(1) central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(5)|kidney(3)|large_intestine(9)|lung(10)|ovary(3)|prostate(4)|skin(1)|upper_aerodigestive_tract(1) 40 all_cancers(143;9.45e-12)|Ovarian(172;0.0418) OV - Ovarian serous cystadenocarcinoma(80;1.76e-18) GBM - Glioblastoma multiforme(93;0.0141) CACAGGCATCCGGACATCCCG 0.612000 """T, Mis""" """IG loci, ZNFN1A1, LCP1, PIM1, TFRC, CIITA, NACA, HSPCB, HSPCA, HIST1H4I, IL21R, POU2AF1, ARHH, EIF4A2, SFRS3""" """NHL, CLL""" 20 51 0 0 1 0 0 ZFYVE16 9765 broad.mit.edu 37 5 79752812 79752812 + Missense_Mutation SNP G G A TCGA-G9-6373-01A-11D-1786-08 TCGA-G9-6373-11A-01D-1786-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0caf5af2-ae80-4f39-ac6f-c2dbc2e8b820 c817606e-6c86-4fec-a7c7-e514459e4aba g.chr5:79752812G>A ENST00000338008.5 + 13 4024 c.3844G>A c.(3844-3846)Gca>Aca p.A1282T ZFYVE16_ENST00000510158.1_Missense_Mutation_p.A1282T|ZFYVE16_ENST00000505560.1_Missense_Mutation_p.A1282T NM_014733.3 NP_055548.3 Q7Z3T8 ZFY16_HUMAN zinc finger, FYVE domain containing 16 1282 BMP signaling pathway|endosome transport|protein targeting to lysosome|regulation of endocytosis|vesicle organization early endosome membrane 1-phosphatidylinositol binding|metal ion binding|phosphatidylinositol-3,4,5-trisphosphate binding|protein binding|protein transporter activity p.A1282T(1) breast(4)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(4)|kidney(5)|large_intestine(14)|liver(1)|lung(6)|ovary(2)|prostate(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 51 Lung NSC(167;0.00428)|all_lung(232;0.00455)|Ovarian(174;0.0261) OV - Ovarian serous cystadenocarcinoma(54;1.6e-46)|Epithelial(54;2.02e-41)|all cancers(79;5.05e-36) TAGCATTGGAGCAAGTTTCAG 0.343000 21 42 0 0 1 0 0 GUCY1A2 2977 broad.mit.edu 37 11 106558447 106558447 + Missense_Mutation SNP G G A TCGA-G9-6373-01A-11D-1786-08 TCGA-G9-6373-11A-01D-1786-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0caf5af2-ae80-4f39-ac6f-c2dbc2e8b820 c817606e-6c86-4fec-a7c7-e514459e4aba g.chr11:106558447G>A ENST00000526355.1 - 8 2495 c.2027C>T c.(2026-2028)cCg>cTg p.P676L GUCY1A2_ENST00000282249.2_Missense_Mutation_p.P707L|GUCY1A2_ENST00000347596.2_Missense_Mutation_p.P697L NM_000855.2 NP_000846.1 P33402 GCYA2_HUMAN guanylate cyclase 1, soluble, alpha 2 676 intracellular signal transduction|platelet activation cytoplasm GTP binding|guanylate cyclase activity|heme binding p.P676L(2) breast(5)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(18)|liver(1)|lung(32)|ovary(1)|pancreas(2)|prostate(4)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(3) 74 all_epithelial(67;3.66e-05)|Melanoma(852;0.000382)|Acute lymphoblastic leukemia(157;0.001)|all_hematologic(158;0.0017)|Breast(348;0.026)|all_neural(303;0.068) BRCA - Breast invasive adenocarcinoma(274;8.04e-05)|Epithelial(105;0.0036)|all cancers(92;0.0476) ACGAGACCGCGGAATGAATGT 0.418000 63 134 0 0 1 0 0 ACTBL2 345651 broad.mit.edu 37 5 56778328 56778328 + Missense_Mutation SNP C C A TCGA-G9-6373-01A-11D-1786-08 TCGA-G9-6373-11A-01D-1786-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0caf5af2-ae80-4f39-ac6f-c2dbc2e8b820 c817606e-6c86-4fec-a7c7-e514459e4aba g.chr5:56778328C>A ENST00000423391.1 - 1 308 c.207G>T c.(205-207)aaG>aaT p.K69N CTD-2023N9.1_ENST00000506106.1_RNA NM_001017992.3 NP_001017992.1 Q562R1 ACTBL_HUMAN actin, beta-like 2 69 cytoplasm|cytoskeleton ATP binding p.K69N(1) breast(2)|endometrium(1)|kidney(2)|large_intestine(10)|lung(7)|ovary(3)|pancreas(1)|prostate(2) 28 Lung NSC(810;0.000135)|Prostate(74;0.055)|Breast(144;0.0707)|Ovarian(174;0.182) OV - Ovarian serous cystadenocarcinoma(10;4.24e-37) CGATAGGATACTTCAGGGTCA 0.547000 21 42 1.64293e-13 1.67227e-13 1 1 0 EML4 27436 broad.mit.edu 37 2 42543187 42543187 + Missense_Mutation SNP A A T TCGA-G9-6373-01A-11D-1786-08 TCGA-G9-6373-11A-01D-1786-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0caf5af2-ae80-4f39-ac6f-c2dbc2e8b820 c817606e-6c86-4fec-a7c7-e514459e4aba g.chr2:42543187A>T ENST00000318522.5 + 18 2315 c.2053A>T c.(2053-2055)Ata>Tta p.I685L EML4_ENST00000453191.2_Intron|EML4_ENST00000402711.2_Missense_Mutation_p.I627L|EML4_ENST00000401738.3_Missense_Mutation_p.I696L NM_019063.3 NP_061936.2 Q9HC35 EMAL4_HUMAN echinoderm microtubule associated protein like 4 685 microtubule-based process|mitosis cytoplasm|microtubule protein binding p.I685L(1) EML4/ALK(543) NS(2)|breast(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|ovary(2)|skin(1)|upper_aerodigestive_tract(1) 12 GCGCTACTCAATAGGTAGGCA 0.423000 T ALK NSCLC 34 75 0 0 1 0 0 MUC3A 4584 broad.mit.edu 37 7 100607821 100607821 + Silent SNP G G A TCGA-G9-6373-01A-11D-1786-08 TCGA-G9-6373-11A-01D-1786-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0caf5af2-ae80-4f39-ac6f-c2dbc2e8b820 c817606e-6c86-4fec-a7c7-e514459e4aba g.chr7:100607821G>A ENST00000319509.7 + 5 1968 c.1968G>A c.(1966-1968)gaG>gaA p.E656E RP11-395B7.2_ENST00000434775.1_RNA|RP11-395B7.2_ENST00000420080.1_RNA mucin 3A, cell surface associated p.E656E(2) breast(3)|central_nervous_system(3)|endometrium(1)|kidney(1)|large_intestine(1)|lung(32)|prostate(3) 44 GCGAGTATGAGCAGGTGAAGA 0.637000 17 130 0 0 1 0 0 KLHDC7B 113730 broad.mit.edu 37 22 50987891 50987891 + Silent SNP G G A TCGA-G9-6373-01A-11D-1786-08 TCGA-G9-6373-11A-01D-1786-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0caf5af2-ae80-4f39-ac6f-c2dbc2e8b820 c817606e-6c86-4fec-a7c7-e514459e4aba g.chr22:50987891G>A ENST00000395676.2 + 1 1430 c.1296G>A c.(1294-1296)gcG>gcA p.A432A NM_138433.3 NP_612442.2 Q96G42 KLD7B_HUMAN kelch domain containing 7B 432 p.A333A(1) central_nervous_system(1)|cervix(1)|kidney(1)|large_intestine(1)|lung(4)|ovary(1)|prostate(2)|skin(2)|urinary_tract(1) 14 all_cancers(38;1.53e-10)|all_epithelial(38;1.82e-09)|Breast(42;0.000448)|all_lung(38;0.000665)|Lung NSC(38;0.0104)|Ovarian(80;0.104)|Lung SC(80;0.162)|Hepatocellular(38;0.178) OV - Ovarian serous cystadenocarcinoma(4;7.49e-69)|all cancers(3;9.79e-66)|Epithelial(4;1.3e-63)|GBM - Glioblastoma multiforme(4;0.000399)|Lung(4;0.125)|BRCA - Breast invasive adenocarcinoma(115;0.205)|LUAD - Lung adenocarcinoma(64;0.247) CCCCACGCGCGCCACTCCCCG 0.672000 51 116 0 0 1 0 0 MLLT3 4300 broad.mit.edu 37 9 20414343 20414343 + Silent SNP A A G TCGA-G9-6373-01A-11D-1786-08 TCGA-G9-6373-11A-01D-1786-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0caf5af2-ae80-4f39-ac6f-c2dbc2e8b820 c817606e-6c86-4fec-a7c7-e514459e4aba g.chr9:20414343A>G ENST00000380338.4 - 5 787 c.501T>C c.(499-501)agT>agC p.S167S MLLT3_ENST00000355930.6_5'UTR|MLLT3_ENST00000429426.2_Silent_p.S164S|MLLT3_ENST00000475957.1_5'UTR NM_004529.2 NP_004520.2 P42568 AF9_HUMAN myeloid/lymphoid or mixed-lineage leukemia (trithorax homolog, Drosophila); translocated to, 3 167 Poly-Ser. regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus protein binding p.S167S(19) central_nervous_system(1)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(6)|lung(24)|ovary(1)|prostate(4)|skin(1)|urinary_tract(7) 66 GBM - Glioblastoma multiforme(3;4.35e-105)|Lung(42;3.48e-06)|LUSC - Lung squamous cell carcinoma(42;7.92e-05) tgctgctgctactgctgctgc 0.532000 T MLL ALL 9 71 0 0 1 0 0 KIAA1210 57481 broad.mit.edu 37 X 118238971 118238971 + Missense_Mutation SNP C C A TCGA-G9-6373-01A-11D-1786-08 TCGA-G9-6373-11A-01D-1786-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0caf5af2-ae80-4f39-ac6f-c2dbc2e8b820 c817606e-6c86-4fec-a7c7-e514459e4aba g.chrX:118238971C>A ENST00000402510.2 - 7 1051 c.1052G>T c.(1051-1053)aGt>aTt p.S351I NM_020721.1 NP_065772.1 Q9ULL0 K1210_HUMAN KIAA1210 351 breast(3)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|lung(31)|ovary(4)|prostate(2)|skin(3)|stomach(1)|urinary_tract(1) 64 CGCTGTCAAACTCTTATGTGG 0.418000 9 195 0.000673444 0.000673444 1 1 0 KIAA1467 57613 broad.mit.edu 37 12 13208628 13208628 + Missense_Mutation SNP G G A TCGA-G9-6373-01A-11D-1786-08 TCGA-G9-6373-11A-01D-1786-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0caf5af2-ae80-4f39-ac6f-c2dbc2e8b820 c817606e-6c86-4fec-a7c7-e514459e4aba g.chr12:13208628G>A ENST00000197268.8 + 2 301 c.181G>A c.(181-183)Gac>Aac p.D61N NM_020853.1 NP_065904.1 A2RU67 K1467_HUMAN KIAA1467 61 integral to membrane p.D61N(1) NS(1)|central_nervous_system(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|lung(13)|ovary(1)|prostate(1)|skin(4) 36 Prostate(47;0.184) BRCA - Breast invasive adenocarcinoma(232;0.157) GCCAGAACCCGACTCAGATGC 0.557000 47 86 0 0 1 0 0 PLCH1 23007 broad.mit.edu 37 3 155206588 155206588 + Silent SNP G G A TCGA-G9-6373-01A-11D-1786-08 TCGA-G9-6373-11A-01D-1786-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0caf5af2-ae80-4f39-ac6f-c2dbc2e8b820 c817606e-6c86-4fec-a7c7-e514459e4aba g.chr3:155206588G>A ENST00000460012.1 - 20 2667 c.2310C>T c.(2308-2310)aaC>aaT p.N770N PLCH1_ENST00000414191.1_Silent_p.N770N|PLCH1_ENST00000334686.6_Silent_p.N770N|PLCH1_ENST00000447496.2_Silent_p.N788N|PLCH1_ENST00000340059.7_Silent_p.N788N|PLCH1_ENST00000494598.1_Silent_p.N788N Q4KWH8 PLCH1_HUMAN phospholipase C, eta 1 788 C2. lipid catabolic process|phosphatidylinositol-mediated signaling membrane calcium ion binding|calcium-dependent phospholipase C activity|phosphatidylinositol phospholipase C activity|signal transducer activity p.N770N(1) NS(3)|breast(3)|endometrium(9)|kidney(4)|large_intestine(20)|lung(45)|ovary(2)|prostate(5)|skin(8)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(4) 107 Lung(72;0.11)|LUSC - Lung squamous cell carcinoma(72;0.114) CCCACACAGGGTTAAATCCTC 0.428000 22 46 0 0 1 0 0 HPGD 3248 broad.mit.edu 37 4 175416699 175416699 + Splice_Site SNP C C A TCGA-G9-6373-01A-11D-1786-08 TCGA-G9-6373-11A-01D-1786-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0caf5af2-ae80-4f39-ac6f-c2dbc2e8b820 c817606e-6c86-4fec-a7c7-e514459e4aba g.chr4:175416699C>A ENST00000296522.6 - 5 944 c.498_splice c.e5+1 p.A166_splice HPGD_ENST00000541923.1_Splice_Site_p.A45_splice|HPGD_ENST00000542498.1_Intron|HPGD_ENST00000296521.7_Splice_Site_p.A166_splice|HPGD_ENST00000510901.1_Splice_Site_p.A45_splice|HPGD_ENST00000422112.2_Splice_Site_p.A98_splice NM_000860.5|NM_001145816.2|NM_001256301.1|NM_001256307.1 NP_000851.2|NP_001139288.1|NP_001243230.1|NP_001243236.1 P15428 PGDH_HUMAN hydroxyprostaglandin dehydrogenase 15-(NAD) 166 female pregnancy|lipoxygenase pathway|negative regulation of cell cycle|parturition|prostaglandin metabolic process|transforming growth factor beta receptor signaling pathway cytosol|nucleus 15-hydroxyprostaglandin dehydrogenase (NAD+) activity|NAD+ binding|prostaglandin E receptor activity|protein homodimerization activity p.A166A(1) kidney(1)|lung(3)|prostate(3) 7 Prostate(90;0.00763)|Melanoma(52;0.0179)|Renal(120;0.0376)|Breast(14;0.0991)|all_hematologic(60;0.124)|all_neural(102;0.196) all cancers(43;2.6e-18)|Epithelial(43;4.19e-16)|OV - Ovarian serous cystadenocarcinoma(60;5.23e-09)|GBM - Glioblastoma multiforme(59;0.00176)|STAD - Stomach adenocarcinoma(60;0.00299)|LUSC - Lung squamous cell carcinoma(193;0.0253) NADH(DB00157) GTAGCCTCACCGCTGCTGAGC 0.408000 39 51 9.39024e-22 9.91192e-22 1 1 0 SSH1 54434 broad.mit.edu 37 12 109192926 109192926 + Missense_Mutation SNP G G A TCGA-G9-6373-01A-11D-1786-08 TCGA-G9-6373-11A-01D-1786-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0caf5af2-ae80-4f39-ac6f-c2dbc2e8b820 c817606e-6c86-4fec-a7c7-e514459e4aba g.chr12:109192926G>A ENST00000326495.5 - 13 1292 c.1199C>T c.(1198-1200)tCg>tTg p.S400L SSH1_ENST00000551165.1_Missense_Mutation_p.S400L|SSH1_ENST00000360239.3_Missense_Mutation_p.S88L|SSH1_ENST00000326470.5_Missense_Mutation_p.S411L NM_018984.3 NP_061857.3 Q8WYL5 SSH1_HUMAN slingshot protein phosphatase 1 400 Tyrosine-protein phosphatase. actin cytoskeleton organization|cell morphogenesis|cellular response to ATP|regulation of actin polymerization or depolymerization|regulation of axonogenesis|regulation of cellular protein metabolic process|regulation of lamellipodium assembly cleavage furrow|cytoplasm|cytoskeleton|lamellipodium|midbody|plasma membrane actin binding|protein tyrosine phosphatase activity|protein tyrosine/serine/threonine phosphatase activity breast(1)|endometrium(5)|kidney(3)|large_intestine(9)|lung(8)|ovary(4)|prostate(2)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1) 38 TGTGGAGGCCGAGCGACTCAC 0.557000 6 37 0 0 1 0 0 BAGE2 85319 broad.mit.edu 37 21 11047499 11047499 + RNA SNP G G T TCGA-G9-6373-01A-11D-1786-08 TCGA-G9-6373-11A-01D-1786-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0caf5af2-ae80-4f39-ac6f-c2dbc2e8b820 c817606e-6c86-4fec-a7c7-e514459e4aba g.chr21:11047499G>T ENST00000470054.1 - 0 755 B melanoma antigen family, member 2 Colorectal(6;3.44e-05)|COAD - Colon adenocarcinoma(6;0.00727)|READ - Rectum adenocarcinoma(6;0.0723) UCEC - Uterine corpus endometrioid carcinoma (6;0.0974)|all cancers(6;2.54e-22)|Epithelial(6;4.21e-19)|OV - Ovarian serous cystadenocarcinoma(6;1.16e-09)|BRCA - Breast invasive adenocarcinoma(6;7.72e-05)|Lung(8;0.000189)|LUSC - Lung squamous cell carcinoma(6;0.00379)|GBM - Glioblastoma multiforme(6;0.00391)|Kidney(17;0.0773)|LUAD - Lung adenocarcinoma(8;0.247) TCCAGCCGTTGGTTGGTACAG 0.343000 42 572 3.76604e-16 3.90298e-16 1 1 0 SCN5A 6331 broad.mit.edu 37 3 38627292 38627292 + Missense_Mutation SNP G G A TCGA-G9-6373-01A-11D-1786-08 TCGA-G9-6373-11A-01D-1786-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0caf5af2-ae80-4f39-ac6f-c2dbc2e8b820 c817606e-6c86-4fec-a7c7-e514459e4aba g.chr3:38627292G>A ENST00000413689.1 - 16 2870 c.2677C>T c.(2677-2679)Cgc>Tgc p.R893C SCN5A_ENST00000414099.2_Missense_Mutation_p.R893C|SCN5A_ENST00000423572.2_Missense_Mutation_p.R893C|SCN5A_ENST00000449557.2_Missense_Mutation_p.R893C|SCN5A_ENST00000451551.2_Missense_Mutation_p.R893C|SCN5A_ENST00000450102.2_Missense_Mutation_p.R893C|SCN5A_ENST00000443581.1_Missense_Mutation_p.R893C|SCN5A_ENST00000425664.1_Missense_Mutation_p.R893C|SCN5A_ENST00000333535.4_Missense_Mutation_p.R893C|SCN5A_ENST00000455624.2_Missense_Mutation_p.R893C NM_001099404.1|NM_001160160.1 NP_001092874.1|NP_001153632.1 Q14524 SCN5A_HUMAN sodium channel, voltage-gated, type V, alpha subunit 893 blood circulation|cellular response to calcium ion|muscle contraction|regulation of heart contraction sarcolemma|voltage-gated sodium channel complex protein binding|voltage-gated sodium channel activity p.R893C(2) NS(3)|breast(2)|central_nervous_system(3)|cervix(2)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(25)|lung(27)|ovary(6)|pancreas(3)|prostate(10)|skin(9)|upper_aerodigestive_tract(4) 107 Medulloblastoma(35;0.163) KIRC - Kidney renal clear cell carcinoma(284;0.0822)|Kidney(284;0.1) Benzonatate(DB00868)|Bepridil(DB01244)|Carbamazepine(DB00564)|Cocaine(DB00907)|Dibucaine(DB00527)|Disopyramide(DB00280)|Encainide(DB01228)|Ethotoin(DB00754)|Flecainide(DB01195)|Fosphenytoin(DB01320)|Hexylcaine(DB00473)|Indecainide(DB00192)|Lamotrigine(DB00555)|Lidocaine(DB00281)|Mephenytoin(DB00532)|Mexiletine(DB00379)|Mibefradil(DB01388)|Moricizine(DB00680)|Oxcarbazepine(DB00776)|Phenytoin(DB00252)|Prilocaine(DB00750)|Procainamide(DB01035)|Propafenone(DB01182)|Quinidine(DB00908)|Riluzole(DB00740)|Tocainide(DB01056)|Verapamil(DB00661) CAGAGGATGCGGAAGATGATG 0.547000 9 221 0 0 1 0 0 MED13L 23389 broad.mit.edu 37 12 116446812 116446812 + Missense_Mutation SNP G G A TCGA-G9-6373-01A-11D-1786-08 TCGA-G9-6373-11A-01D-1786-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0caf5af2-ae80-4f39-ac6f-c2dbc2e8b820 c817606e-6c86-4fec-a7c7-e514459e4aba g.chr12:116446812G>A ENST00000281928.3 - 10 1612 c.1406C>T c.(1405-1407)aCa>aTa p.T469I NM_015335.4 NP_056150.1 Q71F56 MD13L_HUMAN mediator complex subunit 13-like 469 regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent p.T469I(1) NS(2)|breast(1)|endometrium(9)|kidney(3)|large_intestine(18)|lung(34)|ovary(4)|prostate(4)|skin(6)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2) 85 all_neural(191;0.117)|Medulloblastoma(191;0.163) BRCA - Breast invasive adenocarcinoma(302;0.0407) TCTTTCTGCTGTTTTGTGCTT 0.478000 101 145 0 0 1 0 0 TBP 6908 broad.mit.edu 37 6 170871052 170871052 + Silent SNP G G A rs112083427 TCGA-G9-6373-01A-11D-1786-08 TCGA-G9-6373-11A-01D-1786-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0caf5af2-ae80-4f39-ac6f-c2dbc2e8b820 c817606e-6c86-4fec-a7c7-e514459e4aba g.chr6:170871052G>A ENST00000392092.2 + 3 507 c.228G>A c.(226-228)caG>caA p.Q76Q TBP_ENST00000230354.6_Silent_p.Q76Q|TBP_ENST00000540980.1_Silent_p.Q56Q NM_003194.4 NP_003185.1 P20226 TBP_HUMAN TATA box binding protein 76 Poly-Gln. cell death|interspecies interaction between organisms|transcription elongation from RNA polymerase II promoter|transcription from RNA polymerase III promoter|viral reproduction transcription factor TFIIA complex|transcription factor TFIID complex repressing transcription factor binding|transcription regulatory region DNA binding p.Q76Q(4) breast(2)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(2)|lung(9)|ovary(1)|prostate(4)|urinary_tract(1) 26 Breast(66;5.08e-05)|Ovarian(120;0.125)|Esophageal squamous(34;0.246) OV - Ovarian serous cystadenocarcinoma(33;1.07e-22)|BRCA - Breast invasive adenocarcinoma(81;5.01e-06)|GBM - Glioblastoma multiforme(31;0.00591) agcaacagcagcagcagcagc 0.572000 4 64 0 0 1 0 0 ASB1 51665 broad.mit.edu 37 2 239344476 239344476 + Missense_Mutation SNP C C G TCGA-G9-6373-01A-11D-1786-08 TCGA-G9-6373-11A-01D-1786-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0caf5af2-ae80-4f39-ac6f-c2dbc2e8b820 c817606e-6c86-4fec-a7c7-e514459e4aba g.chr2:239344476C>G ENST00000264607.4 + 3 563 c.316C>G c.(316-318)Ctg>Gtg p.L106V ASB1_ENST00000469885.1_3'UTR|ASB1_ENST00000409297.1_Intron NM_001040445.1 NP_001035535.1 Q9Y576 ASB1_HUMAN ankyrin repeat and SOCS box containing 1 106 intracellular signal transduction|negative regulation of cytokine biosynthetic process breast(1)|kidney(1)|large_intestine(3)|lung(2)|skin(1) 8 all_epithelial(40;2.65e-14)|Breast(86;7.61e-05)|Renal(207;0.00183)|all_lung(227;0.0283)|Ovarian(221;0.0365)|Lung NSC(271;0.0941)|all_hematologic(139;0.158)|Melanoma(123;0.203)|Hepatocellular(293;0.244) Epithelial(121;2.04e-26)|OV - Ovarian serous cystadenocarcinoma(60;4.5e-12)|Kidney(56;3.04e-09)|KIRC - Kidney renal clear cell carcinoma(57;6.5e-08)|BRCA - Breast invasive adenocarcinoma(100;2.88e-05)|Lung(119;0.000383)|LUSC - Lung squamous cell carcinoma(224;0.00644) CGAGGTGGATCTGGTGGACGT 0.632000 6 104 0 0 1 0 0 HSD17B7P2 0 broad.mit.edu 37 10 38645343 38645343 + RNA SNP C C T rs75687299 by1000genomes TCGA-G9-6373-01A-11D-1786-08 TCGA-G9-6373-11A-01D-1786-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0caf5af2-ae80-4f39-ac6f-c2dbc2e8b820 c817606e-6c86-4fec-a7c7-e514459e4aba g.chr10:38645343C>T ENST00000494540.1 + 0 36 NR_003086.1 AAAGCAGCGGCGGCGTTTGCT 0.597000 7 30 0 0 1 0 0 COL22A1 169044 broad.mit.edu 37 8 139662012 139662012 + Missense_Mutation SNP T T C TCGA-G9-6373-01A-11D-1786-08 TCGA-G9-6373-11A-01D-1786-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0caf5af2-ae80-4f39-ac6f-c2dbc2e8b820 c817606e-6c86-4fec-a7c7-e514459e4aba g.chr8:139662012T>C ENST00000303045.6 - 46 3789 c.3343A>G c.(3343-3345)Aat>Gat p.N1115D COL22A1_ENST00000341807.4_5'UTR|COL22A1_ENST00000435777.1_Missense_Mutation_p.N1095D NM_152888.1 NP_690848.1 Q8NFW1 COMA1_HUMAN collagen, type XXII, alpha 1 1115 Gly-rich.|Pro-rich. cell adhesion collagen|cytoplasm structural molecule activity p.N1115D(1) breast(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(2)|kidney(14)|large_intestine(29)|lung(107)|ovary(13)|pancreas(1)|prostate(3)|skin(12)|upper_aerodigestive_tract(15)|urinary_tract(4) 211 all_epithelial(106;1.55e-12)|Lung NSC(106;1.67e-05)|all_lung(105;3.39e-05)|Ovarian(258;0.00672)|Acute lymphoblastic leukemia(118;0.155) BRCA - Breast invasive adenocarcinoma(115;0.0517) GGGCAGTCATTGCACACATCC 0.532000 HNSCC(7;0.00092) 27 31 0 0 1 0 0 GSTT1 2952 broad.mit.edu 37 22 24384213 24384213 + Silent SNP G G A TCGA-G9-6373-01A-11D-1786-08 TCGA-G9-6373-11A-01D-1786-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0caf5af2-ae80-4f39-ac6f-c2dbc2e8b820 c817606e-6c86-4fec-a7c7-e514459e4aba g.chr22:24384213G>A ENST00000248935.5 - 1 71 c.19C>T c.(19-21)Ctg>Ttg p.L7L GSTT1_ENST00000439996.2_5'UTR NM_000853.2 NP_000844.2 P30711 GSTT1_HUMAN glutathione S-transferase theta 1 7 GST N-terminal. glutathione metabolic process cytosol|soluble fraction glutathione peroxidase activity|glutathione transferase activity p.L7L(1) cervix(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|ovary(1)|prostate(1)|skin(1) 6 Glutathione(DB00143) AGCAGGTCCAGGTACAGCTCC 0.587000 Myelodysplasia and Acute Myeloid Leukemia (AML), Familial 58 81 0 0 1 0 0 CROCCP2 0 broad.mit.edu 37 1 16959698 16959698 + RNA SNP G G A rs9730434 by1000genomes TCGA-G9-6373-01A-11D-1786-08 TCGA-G9-6373-11A-01D-1786-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0caf5af2-ae80-4f39-ac6f-c2dbc2e8b820 c817606e-6c86-4fec-a7c7-e514459e4aba g.chr1:16959698G>A ENST00000412962.1 - 0 74 p.H56H(4) GGTCCTTCTCGTGGAGCACCT 0.657000 15 124 0 0 1 0 0 NAF1 92345 broad.mit.edu 37 4 164050124 164050124 + Silent SNP T T G TCGA-G9-6373-01A-11D-1786-08 TCGA-G9-6373-11A-01D-1786-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0caf5af2-ae80-4f39-ac6f-c2dbc2e8b820 c817606e-6c86-4fec-a7c7-e514459e4aba g.chr4:164050124T>G ENST00000274054.2 - 8 1603 c.1410A>C c.(1408-1410)ccA>ccC p.P470P NAF1_ENST00000422287.2_Intron|NAF1_ENST00000509434.1_Intron NM_138386.2 NP_612395.2 Q96HR8 NAF1_HUMAN nuclear assembly factor 1 ribonucleoprotein 470 Pro-rich. rRNA processing|snRNA pseudouridine synthesis cytoplasm|nucleus|small nucleolar ribonucleoprotein complex protein binding|snoRNA binding NS(1)|autonomic_ganglia(1)|endometrium(3)|kidney(3)|large_intestine(1)|lung(10)|ovary(2) 21 all_hematologic(180;0.166) Prostate(90;0.109) ggggagggggtgggggtaggg 0.522000 3 3 0 0 1 0 0 BAZ2B 29994 broad.mit.edu 37 2 160287661 160287661 + Missense_Mutation SNP T T C TCGA-G9-6373-01A-11D-1786-08 TCGA-G9-6373-11A-01D-1786-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0caf5af2-ae80-4f39-ac6f-c2dbc2e8b820 c817606e-6c86-4fec-a7c7-e514459e4aba g.chr2:160287661T>C ENST00000392783.2 - 10 2402 c.1907A>G c.(1906-1908)gAt>gGt p.D636G BAZ2B_ENST00000392782.1_Missense_Mutation_p.D634G|BAZ2B_ENST00000355831.2_Missense_Mutation_p.D636G|BAZ2B_ENST00000343439.5_Intron NM_013450.2 NP_038478.2 Q9UIF8 BAZ2B_HUMAN bromodomain adjacent to zinc finger domain, 2B 636 Asp/Glu-rich (acidic). regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|protein binding|zinc ion binding p.D636G(1) NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(11)|large_intestine(7)|liver(2)|lung(41)|ovary(3)|prostate(1)|skin(2)|soft_tissue(1)|urinary_tract(1) 82 TGAATTACTATCTGATTCTGG 0.343000 16 34 0 0 1 0 0 LRP1B 53353 broad.mit.edu 37 2 141680622 141680622 + Missense_Mutation SNP T T G TCGA-G9-6373-01A-11D-1786-08 TCGA-G9-6373-11A-01D-1786-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0caf5af2-ae80-4f39-ac6f-c2dbc2e8b820 c817606e-6c86-4fec-a7c7-e514459e4aba g.chr2:141680622T>G ENST00000389484.3 - 21 4202 c.3231A>C c.(3229-3231)aaA>aaC p.K1077N NM_018557.2 NP_061027.2 Q9NZR2 LRP1B_HUMAN low density lipoprotein receptor-related protein 1B 1077 LDL-receptor class A 8. protein transport|receptor-mediated endocytosis integral to membrane calcium ion binding p.K1077N(1) 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) CTTCACAGTCTTTTTCTCCAT 0.418000 TSP Lung(27;0.18) 47 113 0 0 1 0 0 LAMC1 3915 broad.mit.edu 37 1 183077436 183077436 + Missense_Mutation SNP G G A TCGA-G9-6373-01A-11D-1786-08 TCGA-G9-6373-11A-01D-1786-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0caf5af2-ae80-4f39-ac6f-c2dbc2e8b820 c817606e-6c86-4fec-a7c7-e514459e4aba g.chr1:183077436G>A ENST00000258341.4 + 3 1006 c.749G>A c.(748-750)aGa>aAa p.R250K NM_002293.3 NP_002284.3 P11047 LAMC1_HUMAN laminin, gamma 1 (formerly LAMB2) 250 Laminin N-terminal. axon guidance|cell migration|endoderm development|extracellular matrix disassembly|hemidesmosome assembly|positive regulation of epithelial cell proliferation|protein complex assembly|substrate adhesion-dependent cell spreading extracellular space|laminin-1 complex|laminin-10 complex|laminin-11 complex extracellular matrix structural constituent p.R250K(2) NS(2)|breast(5)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(17)|lung(27)|ovary(3)|prostate(2)|skin(3)|upper_aerodigestive_tract(3) 76 Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Tenecteplase(DB00031) ACTGACATCAGAGTAACTCTT 0.378000 15 106 0 0 1 0 0 DST 667 broad.mit.edu 37 6 56417898 56417898 + Missense_Mutation SNP C C T TCGA-G9-6373-01A-11D-1786-08 TCGA-G9-6373-11A-01D-1786-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0caf5af2-ae80-4f39-ac6f-c2dbc2e8b820 c817606e-6c86-4fec-a7c7-e514459e4aba g.chr6:56417898C>T ENST00000370754.5 - 61 15598 c.15599G>A c.(15598-15600)aGc>aAc p.S5200N DST_ENST00000421834.2_Missense_Mutation_p.S2934N|DST_ENST00000370769.4_Missense_Mutation_p.S5022N|DST_ENST00000370788.2_Missense_Mutation_p.S2934N|DST_ENST00000312431.6_3'UTR|DST_ENST00000244364.6_Missense_Mutation_p.S2608N|DST_ENST00000361203.3_Missense_Mutation_p.S5020N|DST_ENST00000446842.2_Missense_Mutation_p.S4696N Q03001 DYST_HUMAN dystonin 5020 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 p.S2608N(1)|p.S5022N(1) 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) ACTGAGCAAGCTATTGGCTGT 0.413000 98 183 0 0 1 0 0 CRIM1 51232 broad.mit.edu 37 2 36691752 36691752 + Silent SNP C C T TCGA-G9-6373-01A-11D-1786-08 TCGA-G9-6373-11A-01D-1786-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0caf5af2-ae80-4f39-ac6f-c2dbc2e8b820 c817606e-6c86-4fec-a7c7-e514459e4aba g.chr2:36691752C>T ENST00000280527.2 + 5 1312 c.945C>T c.(943-945)ggC>ggT p.G315G NM_016441.2 NP_057525.1 Q9NZV1 CRIM1_HUMAN cysteine rich transmembrane BMP regulator 1 (chordin-like) 315 nervous system development|regulation of cell growth extracellular region|integral to membrane|plasma membrane insulin-like growth factor binding|insulin-like growth factor receptor activity|serine-type endopeptidase inhibitor activity p.G315G(1) autonomic_ganglia(1)|breast(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(15)|liver(2)|lung(11)|ovary(2)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2) 45 all_hematologic(82;0.131)|Acute lymphoblastic leukemia(82;0.154) TCTCTCGTGGCGATGGGACAC 0.502000 64 239 0 0 1 0 0 DSTYK 25778 broad.mit.edu 37 1 205126469 205126469 + Missense_Mutation SNP C C T TCGA-G9-6373-01A-11D-1786-08 TCGA-G9-6373-11A-01D-1786-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0caf5af2-ae80-4f39-ac6f-c2dbc2e8b820 c817606e-6c86-4fec-a7c7-e514459e4aba g.chr1:205126469C>T ENST00000367162.3 - 10 2314 c.2284G>A c.(2284-2286)Gtg>Atg p.V762M DSTYK_ENST00000367160.4_Intron|DSTYK_ENST00000367161.3_Missense_Mutation_p.V762M NM_015375.2 NP_056190.1 Q6XUX3 DUSTY_HUMAN dual serine/threonine and tyrosine protein kinase 762 Protein kinase. cytoplasm ATP binding|protein binding|protein serine/threonine kinase activity|protein tyrosine kinase activity p.V223M(1)|p.V762M(1) breast(2)|kidney(1)|large_intestine(1)|lung(7)|prostate(1)|skin(2) 14 ATTCCCTCCACCACATCTAGT 0.473000 42 96 0 0 1 0 0 DCLRE1A 9937 broad.mit.edu 37 10 115612543 115612543 + Missense_Mutation SNP T T C TCGA-G9-6373-01A-11D-1786-08 TCGA-G9-6373-11A-01D-1786-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0caf5af2-ae80-4f39-ac6f-c2dbc2e8b820 c817606e-6c86-4fec-a7c7-e514459e4aba g.chr10:115612543T>C ENST00000361384.2 - 1 1316 c.399A>G c.(397-399)atA>atG p.I133M DCLRE1A_ENST00000369305.1_Missense_Mutation_p.I133M NM_014881.3 NP_055696.3 Q6PJP8 DCR1A_HUMAN DNA cross-link repair 1A 133 Nuclear localization region. cell division|mitosis nucleus hydrolase activity breast(2)|central_nervous_system(1)|cervix(2)|endometrium(2)|kidney(2)|large_intestine(10)|lung(8)|prostate(1)|skin(2)|urinary_tract(1) 31 Epithelial(162;0.0157)|all cancers(201;0.0171) GTGTCTGCCCTATCAATGAGG 0.413000 Other identified genes with known or suspected DNA repair function 12 128 0 0 1 0 0 HOOK3 84376 broad.mit.edu 37 8 42852766 42852766 + Missense_Mutation SNP T T C TCGA-G9-6373-01A-11D-1786-08 TCGA-G9-6373-11A-01D-1786-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0caf5af2-ae80-4f39-ac6f-c2dbc2e8b820 c817606e-6c86-4fec-a7c7-e514459e4aba g.chr8:42852766T>C ENST00000307602.4 + 16 1806 c.1606T>C c.(1606-1608)Tca>Cca p.S536P NM_032410.3 NP_115786.1 Q86VS8 HOOK3_HUMAN hook microtubule-tethering protein 3 536 cytoplasmic microtubule organization|early endosome to late endosome transport|endosome organization|endosome to lysosome transport|Golgi localization|interkinetic nuclear migration|lysosome organization|microtubule anchoring|negative regulation of neurogenesis|protein localization to centrosome|protein transport cis-Golgi network|FHF complex|microtubule|pericentriolar material identical protein binding|microtubule binding p.S536P(1) NS(1)|breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|lung(10)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(2) 31 Ovarian(28;0.01)|Prostate(17;0.0119)|Lung SC(25;0.184) all_lung(54;0.000105)|Lung NSC(58;0.000419)|Hepatocellular(245;0.0524)|Renal(179;0.0822)|Esophageal squamous(32;0.129) Lung(22;0.048)|LUSC - Lung squamous cell carcinoma(45;0.114) GGATCAAGGCTCAAAAGCAGA 0.308000 T RET papillary thyroid 15 59 0 0 1 0 0 DNM1P47 0 broad.mit.edu 37 15 102292820 102292820 + RNA SNP G G C TCGA-G9-6373-01A-11D-1786-08 TCGA-G9-6373-11A-01D-1786-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0caf5af2-ae80-4f39-ac6f-c2dbc2e8b820 c817606e-6c86-4fec-a7c7-e514459e4aba g.chr15:102292820G>C ENST00000561463.1 + 0 866 p.T136T(2) GCGTGGGAACGAGAAGACACT 0.592000 3 25 0 0 1 0 0 C1orf106 55765 broad.mit.edu 37 1 200878355 200878355 + Silent SNP C C T TCGA-G9-6373-01A-11D-1786-08 TCGA-G9-6373-11A-01D-1786-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0caf5af2-ae80-4f39-ac6f-c2dbc2e8b820 c817606e-6c86-4fec-a7c7-e514459e4aba g.chr1:200878355C>T ENST00000367342.4 + 8 1244 c.1044C>T c.(1042-1044)agC>agT p.S348S C1orf106_ENST00000413687.2_Silent_p.S263S NM_018265.3 NP_060735.3 Q3KP66 CA106_HUMAN chromosome 1 open reading frame 106 348 Pro-rich. endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(6)|ovary(1)|prostate(2)|skin(3)|stomach(1)|urinary_tract(2) 21 TTTGCAGCAGCCCAGCCACCA 0.602000 34 89 0 0 1 0 0 APBA1 320 broad.mit.edu 37 9 72131722 72131722 + Silent SNP G G A TCGA-G9-6373-01A-11D-1786-08 TCGA-G9-6373-11A-01D-1786-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0caf5af2-ae80-4f39-ac6f-c2dbc2e8b820 c817606e-6c86-4fec-a7c7-e514459e4aba g.chr9:72131722G>A ENST00000265381.4 - 2 627 c.405C>T c.(403-405)gcC>gcT p.A135A NM_001163.3 NP_001154.2 Q02410 APBA1_HUMAN amyloid beta (A4) precursor protein-binding, family A, member 1 135 axon cargo transport|cell adhesion|intracellular protein transport|nervous system development|protein complex assembly|synaptic transmission synaptic vesicle p.A135A(1) endometrium(4)|kidney(2)|large_intestine(12)|lung(13)|prostate(3)|skin(3) 37 CGGCGTGCTCGGCCTCTGCCT 0.692000 24 54 0 0 1 0 0 RP11-798G7.5 0 broad.mit.edu 37 17 43587569 43587569 + RNA SNP G G C rs149697015 by1000genomes TCGA-G9-6373-01A-11D-1786-08 TCGA-G9-6373-11A-01D-1786-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0caf5af2-ae80-4f39-ac6f-c2dbc2e8b820 c817606e-6c86-4fec-a7c7-e514459e4aba g.chr17:43587569G>C ENST00000253803.2 + 0 267 LRRC37A4P_ENST00000579913.1_RNA aactccgtctgaaaagaaaag 0.443000 8 88 0 0 1 0 0 FOXP2 93986 broad.mit.edu 37 7 114270000 114270000 + Silent SNP G G A TCGA-G9-6373-01A-11D-1786-08 TCGA-G9-6373-11A-01D-1786-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0caf5af2-ae80-4f39-ac6f-c2dbc2e8b820 c817606e-6c86-4fec-a7c7-e514459e4aba g.chr7:114270000G>A ENST00000393500.3 + 11 1132 c.312G>A c.(310-312)caG>caA p.Q104Q FOXP2_ENST00000393489.3_Silent_p.Q87Q|FOXP2_ENST00000393491.3_Silent_p.Q87Q|FOXP2_ENST00000403559.4_Silent_p.Q196Q|AC020606.1_ENST00000580664.1_RNA|FOXP2_ENST00000393498.2_Silent_p.Q159Q|FOXP2_ENST00000350908.4_Silent_p.Q179Q|FOXP2_ENST00000390668.3_Silent_p.Q203Q|FOXP2_ENST00000408937.3_Silent_p.Q204Q|FOXP2_ENST00000378237.3_Silent_p.Q179Q|FOXP2_ENST00000360232.4_Silent_p.Q179Q|FOXP2_ENST00000393494.2_Silent_p.Q179Q O15409 FOXP2_HUMAN forkhead box P2 179 Gln-rich. camera-type eye development|caudate nucleus development|cerebellum development|cerebral cortex development|embryo development|growth|lung alveolus development|negative regulation of transcription, DNA-dependent|pattern specification process|positive regulation of epithelial cell proliferation involved in lung morphogenesis|positive regulation of mesenchymal cell proliferation|post-embryonic development|putamen development|regulation of sequence-specific DNA binding transcription factor activity|righting reflex|skeletal muscle tissue development|smooth muscle tissue development|vocal learning cytoplasm|transcription factor complex chromatin binding|DNA bending activity|double-stranded DNA binding|promoter binding|protein heterodimerization activity|protein homodimerization activity|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|specific RNA polymerase II transcription factor activity|specific transcriptional repressor activity|transcription activator activity|transcription factor binding|zinc ion binding p.Q204Q(1) breast(3)|endometrium(7)|kidney(4)|large_intestine(7)|lung(22)|ovary(4)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2) 52 agcaacaacagcagcagcagc 0.498000 6 96 0 0 1 0 0 KCNN3 3782 broad.mit.edu 37 1 154842199 154842200 + In_Frame_Ins INS - - GCTGCT rs58327065 TCGA-G9-6373-01A-11D-1786-08 TCGA-G9-6373-10A-01D-1786-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0caf5af2-ae80-4f39-ac6f-c2dbc2e8b820 906935a6-9e29-4146-a7a0-d60f2507e774 g.chr1:154842199_154842200insGCTGCT ENST00000271915.3 - 1 556_557 c.241_242insAGCAGC c.(241-243)acc>AGCAGCacc p.80_81insSS NM_002249.5 NP_002240.3 Q9UGI6 KCNN3_HUMAN potassium intermediate/small conductance calcium-activated channel, subfamily N, member 3 80 Poly-Gln. integral to membrane calmodulin binding p.Q80_P81insQQ(2) cervix(1)|endometrium(3)|kidney(2)|large_intestine(6)|lung(11)|prostate(4)|skin(1) 28 all_lung(78;2.29e-27)|all_hematologic(923;0.088)|Hepatocellular(266;0.108)|all_neural(408;0.245) BRCA - Breast invasive adenocarcinoma(34;0.00819) GGGATGCGGTGgctgctgctgc 0.698 7 8 --- --- --- --- AC007563.5 0 broad.mit.edu 37 2 217650443 217650443 + RNA DEL T T - TCGA-G9-6373-01A-11D-1786-08 TCGA-G9-6373-10A-01D-1786-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0caf5af2-ae80-4f39-ac6f-c2dbc2e8b820 906935a6-9e29-4146-a7a0-d60f2507e774 g.chr2:217650443delT ENST00000447289.1 + 0 510 cccggcTCACTTTTTTTTTTT 0.433 3 3 --- --- --- --- FIP1L1 81608 broad.mit.edu 37 4 54319248 54319249 + Frame_Shift_Del DEL AG AG - TCGA-G9-6373-01A-11D-1786-08 TCGA-G9-6373-10A-01D-1786-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0caf5af2-ae80-4f39-ac6f-c2dbc2e8b820 906935a6-9e29-4146-a7a0-d60f2507e774 g.chr4:54319248_54319249delAG ENST00000337488.6 + 16 1641_1642 c.1447_1448delAG c.(1447-1449)afs p.R483fs FIP1L1_ENST00000306932.6_Frame_Shift_Del_p.R409fs|FIP1L1_ENST00000358575.5_Frame_Shift_Del_p.R477fs|FIP1L1_ENST00000507166.1_Intron NM_030917.3 NP_112179.2 Q6UN15 FIP1_HUMAN factor interacting with PAPOLA and CPSF1 483 Arg-rich.|Glu-rich.|Sufficient for interaction with CPSF1 and CSTF3. mRNA processing nucleus RNA binding p.R487fs*3(2) large_intestine(3)|liver(1)|ovary(1)|skin(1) 6 GBM - Glioblastoma multiforme(3;3.31e-36)|LUSC - Lung squamous cell carcinoma(32;0.0134) agaACGCACCAGAGAGAGAGAG 0.470 T PDGFRA idiopathic hypereosinophilic syndrome 9 128 --- --- --- --- PCDH10 57575 broad.mit.edu 37 4 134073569 134073571 + In_Frame_Del DEL CTG CTG - TCGA-G9-6373-01A-11D-1786-08 TCGA-G9-6373-10A-01D-1786-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0caf5af2-ae80-4f39-ac6f-c2dbc2e8b820 906935a6-9e29-4146-a7a0-d60f2507e774 g.chr4:134073569_134073571delCTG ENST00000264360.4 + 1 3100_3102 c.2274_2276delCTG c.(2272-2277)ctc>ct p.LC758del NM_032961.1 NP_116586.1 Q9P2E7 PCD10_HUMAN protocadherin 10 758 Cys-rich. homophilic cell adhesion integral to membrane|plasma membrane calcium ion binding NS(2)|breast(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(30)|liver(1)|lung(72)|ovary(2)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(6)|urinary_tract(2) 136 LUSC - Lung squamous cell carcinoma(193;0.227) ATTGCTGCCTCTGCTGCTGCTGC 0.581 7 86 --- --- --- --- STK19 8859 broad.mit.edu 37 6 31939825 31939826 + Frame_Shift_Ins INS - - G TCGA-G9-6373-01A-11D-1786-08 TCGA-G9-6373-10A-01D-1786-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0caf5af2-ae80-4f39-ac6f-c2dbc2e8b820 906935a6-9e29-4146-a7a0-d60f2507e774 g.chr6:31939825_31939826insG ENST00000375331.2 + 1 218_219 c.52_53insG c.(52-54)ggcfs p.G18fs DOM3Z_ENST00000375349.3_5'UTR|DOM3Z_ENST00000337523.5_5'UTR|DOM3Z_ENST00000478221.1_5'UTR|STK19_ENST00000375333.2_Frame_Shift_Ins_p.G18fs NM_004197.1 NP_004188.1 P49842 STK19_HUMAN serine/threonine kinase 19 18 nucleus ATP binding|protein binding|protein serine/threonine kinase activity skin(5)|upper_aerodigestive_tract(2) 7 GCGACAGTGGCGGGCAAACCCC 0.634 8 315 --- --- --- --- STK19 8859 broad.mit.edu 37 6 31939829 31939830 + Frame_Shift_Ins INS - - A TCGA-G9-6373-01A-11D-1786-08 TCGA-G9-6373-10A-01D-1786-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0caf5af2-ae80-4f39-ac6f-c2dbc2e8b820 906935a6-9e29-4146-a7a0-d60f2507e774 g.chr6:31939829_31939830insA ENST00000375331.2 + 1 222_223 c.56_57insA c.(55-57)gaafs p.E19fs DOM3Z_ENST00000375349.3_5'UTR|DOM3Z_ENST00000337523.5_5'UTR|DOM3Z_ENST00000478221.1_5'UTR|STK19_ENST00000375333.2_Frame_Shift_Ins_p.E19fs NM_004197.1 NP_004188.1 P49842 STK19_HUMAN serine/threonine kinase 19 19 nucleus ATP binding|protein binding|protein serine/threonine kinase activity skin(5)|upper_aerodigestive_tract(2) 7 CAGTGGCGGGCAAACCCCTCCC 0.634 7 250 --- --- --- --- DST 667 broad.mit.edu 37 6 56510689 56510690 + Frame_Shift_Del DEL TC TC - TCGA-G9-6373-01A-11D-1786-08 TCGA-G9-6373-10A-01D-1786-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0caf5af2-ae80-4f39-ac6f-c2dbc2e8b820 906935a6-9e29-4146-a7a0-d60f2507e774 g.chr6:56510689_56510690delTC ENST00000370754.5 - 14 1652_1653 c.1653_1654delGA c.(1651-1656)gaagfs p.EK551fs DST_ENST00000370769.4_Frame_Shift_Del_p.EK373fs|DST_ENST00000421834.2_Frame_Shift_Del_p.EK373fs|DST_ENST00000312431.6_Frame_Shift_Del_p.EK373fs|DST_ENST00000370788.2_Frame_Shift_Del_p.EK373fs|DST_ENST00000361203.3_Frame_Shift_Del_p.EK373fs Q03001 DYST_HUMAN dystonin 373 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) CGAAGGGCCTTCTCTCTCTCTA 0.441 7 271 --- --- --- --- LMTK2 22853 broad.mit.edu 37 7 97820131 97820132 + Frame_Shift_Del DEL AG AG - TCGA-G9-6373-01A-11D-1786-08 TCGA-G9-6373-10A-01D-1786-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0caf5af2-ae80-4f39-ac6f-c2dbc2e8b820 906935a6-9e29-4146-a7a0-d60f2507e774 g.chr7:97820131_97820132delAG ENST00000297293.5 + 10 1383_1384 c.1090_1091delAG c.(1090-1092)afs p.R364fs NM_014916.3 NP_055731.2 Q8IWU2 LMTK2_HUMAN lemur tyrosine kinase 2 364 Protein kinase. early endosome to late endosome transport|endocytic recycling|peptidyl-serine phosphorylation|peptidyl-threonine phosphorylation|protein autophosphorylation|receptor recycling|transferrin transport early endosome|Golgi apparatus|integral to membrane|perinuclear region of cytoplasm|recycling endosome ATP binding|myosin VI binding|protein phosphatase inhibitor activity|protein serine/threonine kinase activity|protein tyrosine kinase activity NS(2)|breast(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(13)|lung(25)|ovary(1)|pancreas(2)|skin(2)|stomach(3) 59 all_cancers(62;3.23e-09)|all_epithelial(64;7.65e-10)|Lung NSC(181;0.00902)|all_lung(186;0.0104)|Esophageal squamous(72;0.0125) CCAAGTCATTAGAGAGAGAGAC 0.495 7 672 --- --- --- --- KMT2C 58508 broad.mit.edu 37 7 151904428 151904429 + Frame_Shift_Ins INS - - A TCGA-G9-6373-01A-11D-1786-08 TCGA-G9-6373-10A-01D-1786-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0caf5af2-ae80-4f39-ac6f-c2dbc2e8b820 906935a6-9e29-4146-a7a0-d60f2507e774 g.chr7:151904428_151904429insA ENST00000355193.2 - 24 4015_4016 c.3797_3798insT c.(3796-3798)gacfs p.D1266fs KMT2C_ENST00000262189.6_Frame_Shift_Ins_p.D1266fs lysine (K)-specific methyltransferase 2C CACCATCTGTTCCTTCCACTCC 0.381 43 102 --- --- --- --- CHD7 55636 broad.mit.edu 37 8 61693942 61693943 + In_Frame_Ins INS - - AAAGCA TCGA-G9-6373-01A-11D-1786-08 TCGA-G9-6373-10A-01D-1786-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0caf5af2-ae80-4f39-ac6f-c2dbc2e8b820 906935a6-9e29-4146-a7a0-d60f2507e774 g.chr8:61693942_61693943insAAAGCA ENST00000423902.2 + 3 2528_2529 c.2049_2050insAAAGCA c.(2047-2052)aaaagc>aaAAAGCAaagc p.683_684KS>KKQS CHD7_ENST00000525508.1_In_Frame_Ins_p.683_684KS>KKQS|CHD7_ENST00000524602.1_Intron NM_017780.3 NP_060250.2 Q9P2D1 CHD7_HUMAN chromodomain helicase DNA binding protein 7 683 Lys-rich. central nervous system development|chromatin modification|cognition|cranial nerve development|face development|heart morphogenesis|in utero embryonic development|inner ear morphogenesis|nose development|palate development|regulation of growth hormone secretion|regulation of transcription, DNA-dependent|retina development in camera-type eye|skeletal system development|T cell differentiation|transcription, DNA-dependent nucleus ATP binding|chromatin binding|DNA binding|helicase activity p.556_871dup(1) NS(1)|breast(6)|central_nervous_system(8)|cervix(2)|endometrium(16)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(16)|lung(49)|ovary(4)|pancreas(2)|prostate(4)|skin(2)|urinary_tract(3) 123 all_cancers(86;0.2)|all_lung(136;0.0402)|Lung NSC(129;0.0459)|all_epithelial(80;0.0477) BRCA - Breast invasive adenocarcinoma(89;0.143) CAAAGGAAAAGAAAGCAAAAAC 0.450 7 42 --- --- --- --- SLC10A5 347051 broad.mit.edu 37 8 82606545 82606546 + Frame_Shift_Ins INS - - C TCGA-G9-6373-01A-11D-1786-08 TCGA-G9-6373-10A-01D-1786-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0caf5af2-ae80-4f39-ac6f-c2dbc2e8b820 906935a6-9e29-4146-a7a0-d60f2507e774 g.chr8:82606545_82606546insC ENST00000518568.1 - 1 1863_1864 c.662_663insG c.(661-663)gtafs p.V221fs NM_001010893.2 NP_001010893.1 Q5PT55 NTCP5_HUMAN solute carrier family 10, member 5 221 integral to membrane bile acid:sodium symporter activity autonomic_ganglia(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(5) 15 CAAAGAGATAGCCCCCACCCCC 0.470 7 522 --- --- --- --- TTLL11 158135 broad.mit.edu 37 9 124855330 124855331 + In_Frame_Ins INS - - TGGCCT rs3833704 TCGA-G9-6373-01A-11D-1786-08 TCGA-G9-6373-10A-01D-1786-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0caf5af2-ae80-4f39-ac6f-c2dbc2e8b820 906935a6-9e29-4146-a7a0-d60f2507e774 g.chr9:124855330_124855331insTGGCCT ENST00000321582.5 - 1 554_555 c.367_368insAGGCCA c.(367-369)agc>AGGCCAagc p.122_123insRP TTLL11_ENST00000373776.3_In_Frame_Ins_p.122_123insRP|TTLL11_ENST00000474723.1_5'UTR NM_001139442.1 NP_001132914.1 Q8NHH1 TTL11_HUMAN tubulin tyrosine ligase-like family, member 11 122 protein modification process cilium|microtubule basal body tubulin-tyrosine ligase activity breast(1)|endometrium(1)|kidney(1)|large_intestine(6)|lung(5)|prostate(3)|skin(1) 18 cgtctccgctgtggcctcggcc 0.762 4 4 --- --- --- --- DDX6 1656 broad.mit.edu 37 11 118629613 118629614 + Splice_Site INS - - G TCGA-G9-6373-01A-11D-1786-08 TCGA-G9-6373-10A-01D-1786-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0caf5af2-ae80-4f39-ac6f-c2dbc2e8b820 906935a6-9e29-4146-a7a0-d60f2507e774 g.chr11:118629613_118629614insG ENST00000264018.4 - 9 1170 c.e9-2 DDX6_ENST00000526070.2_Splice_Site|DDX6_ENST00000534980.1_Splice_Site NM_004397.4 NP_004388.2 P26196 DDX6_HUMAN DEAD (Asp-Glu-Ala-Asp) box helicase 6 exonucleolytic nuclear-transcribed mRNA catabolic process involved in deadenylation-dependent decay cytoplasmic mRNA processing body|cytosol|RNA-induced silencing complex|stress granule ATP binding|ATP-dependent helicase activity|protein binding|RNA binding|RNA helicase activity NS(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(4)|lung(1)|ovary(1)|prostate(1) 13 all_hematologic(175;0.0839) Renal(330;0.0183)|Medulloblastoma(222;0.0425)|all_neural(223;0.0837)|Hepatocellular(160;0.0893)|Breast(348;0.0979)|all_hematologic(192;0.103) OV - Ovarian serous cystadenocarcinoma(223;3.39e-06)|BRCA - Breast invasive adenocarcinoma(274;3.4e-05)|Colorectal(284;0.0377) ATGGGAATTCTGGGGGGGGAGC 0.426 T IGH@ B-NHL 8 328 --- --- --- --- CCNT1 904 broad.mit.edu 37 12 49087434 49087436 + In_Frame_Del DEL ATG ATG - TCGA-G9-6373-01A-11D-1786-08 TCGA-G9-6373-10A-01D-1786-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0caf5af2-ae80-4f39-ac6f-c2dbc2e8b820 906935a6-9e29-4146-a7a0-d60f2507e774 g.chr12:49087434_49087436delATG ENST00000261900.3 - 9 1783_1785 c.1561_1563delCAT c.(1561-1563)del p.H521del NM_001240.3 NP_001231.2 O60563 CCNT1_HUMAN cyclin T1 521 His-rich. cell cycle|cell division|interspecies interaction between organisms|positive regulation of viral transcription|protein phosphorylation|regulation of cyclin-dependent protein kinase activity|regulation of transcription, DNA-dependent|transcription elongation from RNA polymerase II promoter|viral reproduction nucleoplasm DNA binding|protein kinase binding breast(3)|endometrium(1)|kidney(1)|large_intestine(4)|lung(13)|ovary(3)|skin(2) 27 AGTGGTGATTATGATGATGATGA 0.443 10 719 --- --- --- --- LRP10 26020 broad.mit.edu 37 14 23341527 23341529 + In_Frame_Del DEL CCT CCT - TCGA-G9-6373-01A-11D-1786-08 TCGA-G9-6373-10A-01D-1786-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0caf5af2-ae80-4f39-ac6f-c2dbc2e8b820 906935a6-9e29-4146-a7a0-d60f2507e774 g.chr14:23341527_23341529delCCT ENST00000359591.4 + 1 706_708 c.15_17delCCT c.(13-18)acc>ac p.TL5del LRP10_ENST00000546834.1_In_Frame_Del_p.TL5del NM_014045.3 NP_054764.2 Q7Z4F1 LRP10_HUMAN low density lipoprotein receptor-related protein 10 5 endocytosis coated pit|integral to membrane central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|liver(2)|lung(7)|ovary(2)|prostate(2)|skin(5)|stomach(1)|urinary_tract(2) 32 all_cancers(95;4.69e-05) GBM - Glioblastoma multiforme(265;0.00549) TGTTGGCCACCCTCCTCCTCCTC 0.670 9 222 --- --- --- --- BAZ1A 11177 broad.mit.edu 37 14 35331423 35331423 + Frame_Shift_Del DEL T T - TCGA-G9-6373-01A-11D-1786-08 TCGA-G9-6373-10A-01D-1786-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0caf5af2-ae80-4f39-ac6f-c2dbc2e8b820 906935a6-9e29-4146-a7a0-d60f2507e774 g.chr14:35331423delT ENST00000360310.1 - 3 786 c.219delA c.(217-219)aafs p.K73fs BAZ1A_ENST00000553853.1_5'UTR|BAZ1A_ENST00000358716.4_Frame_Shift_Del_p.K73fs|BAZ1A_ENST00000382422.2_Frame_Shift_Del_p.K73fs NM_013448.2 NP_038476.2 Q9NRL2 BAZ1A_HUMAN bromodomain adjacent to zinc finger domain, 1A 73 Required for association with the CHRAC1/POLE3 complex.|Required for interaction with NCOR1.|WAC. chromatin remodeling|regulation of transcription, DNA-dependent|transcription, DNA-dependent ACF complex zinc ion binding breast(2)|central_nervous_system(2)|cervix(2)|endometrium(6)|kidney(2)|large_intestine(7)|lung(19)|ovary(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 48 Breast(36;0.0388)|Hepatocellular(127;0.158) LUAD - Lung adenocarcinoma(48;7.23e-05)|Lung(238;0.00019)|Epithelial(34;0.0793)|all cancers(34;0.175) GBM - Glioblastoma multiforme(112;0.0659) TCTGTCTTGCTTTTTTTTCTG 0.428 8 381 --- --- --- --- OTX2-AS1 0 broad.mit.edu 37 14 57508748 57508749 + RNA DEL GA GA - TCGA-G9-6373-01A-11D-1786-08 TCGA-G9-6373-10A-01D-1786-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0caf5af2-ae80-4f39-ac6f-c2dbc2e8b820 906935a6-9e29-4146-a7a0-d60f2507e774 g.chr14:57508748_57508749delGA ENST00000554725.1 + 0 344 TGAAGTTAAGGAGAGAAAAAAG 0.376 15 41 --- --- --- --- AC073321.4 0 broad.mit.edu 37 2 217475032 217475032 + RNA DEL A A - rs71401156 TCGA-G9-6373-01A-11D-1786-08 TCGA-G9-6373-11A-01D-1786-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0caf5af2-ae80-4f39-ac6f-c2dbc2e8b820 c817606e-6c86-4fec-a7c7-e514459e4aba g.chr2:217475032delA ENST00000441803.1 + 0 195 ATTTTATTTCAAAAAAAAAAA 0.373 9 11 --- --- --- --- CRIPAK 285464 broad.mit.edu 37 4 1388441 1388442 + Frame_Shift_Ins INS - - CG rs144787346 byFrequency TCGA-G9-6373-01A-11D-1786-08 TCGA-G9-6373-11A-01D-1786-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0caf5af2-ae80-4f39-ac6f-c2dbc2e8b820 c817606e-6c86-4fec-a7c7-e514459e4aba g.chr4:1388441_1388442insCG ENST00000324803.4 + 1 3102_3103 c.142_143insCG c.(142-144)gccfs p.A48fs NM_175918.3 NP_787114.2 Q8N1N5 CRPAK_HUMAN cysteine-rich PAK1 inhibitor 48 ER-nucleus signaling pathway|negative regulation of protein kinase activity|regulation of cytoskeleton organization|response to estrogen stimulus endoplasmic reticulum|nucleus|plasma membrane protein binding NS(3)|breast(1)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(2)|lung(11)|ovary(1)|pancreas(2)|prostate(6)|skin(4)|urinary_tract(1) 35 OV - Ovarian serous cystadenocarcinoma(23;0.0106) CTGCTCACACATGCCCATGTGG 0.644 8 882 --- --- --- --- FIP1L1 81608 broad.mit.edu 37 4 54319248 54319249 + Frame_Shift_Del DEL AG AG - TCGA-G9-6373-01A-11D-1786-08 TCGA-G9-6373-11A-01D-1786-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0caf5af2-ae80-4f39-ac6f-c2dbc2e8b820 c817606e-6c86-4fec-a7c7-e514459e4aba g.chr4:54319248_54319249delAG ENST00000337488.6 + 16 1641_1642 c.1447_1448delAG c.(1447-1449)afs p.R483fs FIP1L1_ENST00000358575.5_Frame_Shift_Del_p.R477fs|FIP1L1_ENST00000507166.1_Intron|FIP1L1_ENST00000306932.6_Frame_Shift_Del_p.R409fs NM_030917.3 NP_112179.2 Q6UN15 FIP1_HUMAN factor interacting with PAPOLA and CPSF1 483 Arg-rich.|Glu-rich.|Sufficient for interaction with CPSF1 and CSTF3. mRNA processing nucleus RNA binding p.R487fs*3(2) large_intestine(3)|liver(1)|ovary(1)|skin(1) 6 GBM - Glioblastoma multiforme(3;3.31e-36)|LUSC - Lung squamous cell carcinoma(32;0.0134) agaACGCACCAGAGAGAGAGAG 0.470 T PDGFRA idiopathic hypereosinophilic syndrome 9 128 --- --- --- --- PCDH10 57575 broad.mit.edu 37 4 134073569 134073571 + In_Frame_Del DEL CTG CTG - TCGA-G9-6373-01A-11D-1786-08 TCGA-G9-6373-11A-01D-1786-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0caf5af2-ae80-4f39-ac6f-c2dbc2e8b820 c817606e-6c86-4fec-a7c7-e514459e4aba g.chr4:134073569_134073571delCTG ENST00000264360.4 + 1 3100_3102 c.2274_2276delCTG c.(2272-2277)ctc>ct p.LC758del NM_032961.1 NP_116586.1 Q9P2E7 PCD10_HUMAN protocadherin 10 758 Cys-rich. homophilic cell adhesion integral to membrane|plasma membrane calcium ion binding NS(2)|breast(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(30)|liver(1)|lung(72)|ovary(2)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(6)|urinary_tract(2) 136 LUSC - Lung squamous cell carcinoma(193;0.227) ATTGCTGCCTCTGCTGCTGCTGC 0.581 7 86 --- --- --- --- STK19 8859 broad.mit.edu 37 6 31939825 31939826 + Frame_Shift_Ins INS - - G TCGA-G9-6373-01A-11D-1786-08 TCGA-G9-6373-11A-01D-1786-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0caf5af2-ae80-4f39-ac6f-c2dbc2e8b820 c817606e-6c86-4fec-a7c7-e514459e4aba g.chr6:31939825_31939826insG ENST00000375331.2 + 1 218_219 c.52_53insG c.(52-54)ggcfs p.G18fs DOM3Z_ENST00000337523.5_5'UTR|DOM3Z_ENST00000478221.1_5'UTR|STK19_ENST00000375333.2_Frame_Shift_Ins_p.G18fs|DOM3Z_ENST00000375349.3_5'UTR NM_004197.1 NP_004188.1 P49842 STK19_HUMAN serine/threonine kinase 19 18 nucleus ATP binding|protein binding|protein serine/threonine kinase activity skin(5)|upper_aerodigestive_tract(2) 7 GCGACAGTGGCGGGCAAACCCC 0.634 8 315 --- --- --- --- DST 667 broad.mit.edu 37 6 56510689 56510690 + Frame_Shift_Del DEL TC TC - TCGA-G9-6373-01A-11D-1786-08 TCGA-G9-6373-11A-01D-1786-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0caf5af2-ae80-4f39-ac6f-c2dbc2e8b820 c817606e-6c86-4fec-a7c7-e514459e4aba g.chr6:56510689_56510690delTC ENST00000370754.5 - 14 1652_1653 c.1653_1654delGA c.(1651-1656)gaagfs p.EK551fs DST_ENST00000312431.6_Frame_Shift_Del_p.EK373fs|DST_ENST00000361203.3_Frame_Shift_Del_p.EK373fs|DST_ENST00000370769.4_Frame_Shift_Del_p.EK373fs|DST_ENST00000421834.2_Frame_Shift_Del_p.EK373fs|DST_ENST00000370788.2_Frame_Shift_Del_p.EK373fs Q03001 DYST_HUMAN dystonin 373 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) CGAAGGGCCTTCTCTCTCTCTA 0.441 7 271 --- --- --- --- PEX1 5189 broad.mit.edu 37 7 92146721 92146721 + Frame_Shift_Del DEL T T - TCGA-G9-6373-01A-11D-1786-08 TCGA-G9-6373-11A-01D-1786-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0caf5af2-ae80-4f39-ac6f-c2dbc2e8b820 c817606e-6c86-4fec-a7c7-e514459e4aba g.chr7:92146721delT ENST00000248633.4 - 5 1203 c.1108delA c.(1108-1110)ttfs p.I370fs PEX1_ENST00000428214.1_Frame_Shift_Del_p.I370fs|PEX1_ENST00000438045.1_Intron|PEX1_ENST00000541751.1_5'UTR NM_000466.2 NP_000457.1 O43933 PEX1_HUMAN peroxisomal biogenesis factor 1 370 microtubule-based peroxisome localization|protein import into peroxisome matrix cytosol|nucleus|peroxisomal membrane ATP binding|ATPase activity, coupled|protein C-terminus binding|protein complex binding breast(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(3)|large_intestine(6)|lung(17)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1) 41 all_cancers(62;9.35e-11)|all_epithelial(64;4.59e-10)|Breast(17;0.00201)|all_lung(186;0.0438)|Lung NSC(181;0.0592) Breast(660;0.000932)|all_neural(109;0.00391)|Myeloproliferative disorder(862;0.0122)|Ovarian(593;0.023)|Medulloblastoma(109;0.123) GBM - Glioblastoma multiforme(5;4.06e-06)|STAD - Stomach adenocarcinoma(4;4.51e-05)|all cancers(6;5.32e-05)|LUSC - Lung squamous cell carcinoma(200;0.225)|Lung(22;0.23) TCTGACCTAATTTTTTTTTGA 0.353 9 171 --- --- --- --- KMT2C 58508 broad.mit.edu 37 7 151904428 151904429 + Frame_Shift_Ins INS - - A TCGA-G9-6373-01A-11D-1786-08 TCGA-G9-6373-11A-01D-1786-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0caf5af2-ae80-4f39-ac6f-c2dbc2e8b820 c817606e-6c86-4fec-a7c7-e514459e4aba g.chr7:151904428_151904429insA ENST00000355193.2 - 24 4015_4016 c.3797_3798insT c.(3796-3798)gacfs p.D1266fs KMT2C_ENST00000262189.6_Frame_Shift_Ins_p.D1266fs lysine (K)-specific methyltransferase 2C CACCATCTGTTCCTTCCACTCC 0.381 43 102 --- --- --- --- SLC10A5 347051 broad.mit.edu 37 8 82606545 82606546 + Frame_Shift_Ins INS - - C TCGA-G9-6373-01A-11D-1786-08 TCGA-G9-6373-11A-01D-1786-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0caf5af2-ae80-4f39-ac6f-c2dbc2e8b820 c817606e-6c86-4fec-a7c7-e514459e4aba g.chr8:82606545_82606546insC ENST00000518568.1 - 1 1863_1864 c.662_663insG c.(661-663)gtafs p.V221fs NM_001010893.2 NP_001010893.1 Q5PT55 NTCP5_HUMAN solute carrier family 10, member 5 221 integral to membrane bile acid:sodium symporter activity autonomic_ganglia(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(5) 15 CAAAGAGATAGCCCCCACCCCC 0.470 7 522 --- --- --- --- KRTAP5-10 387273 broad.mit.edu 37 11 71276657 71276658 + In_Frame_Ins INS - - GGCTGTGGCTCCGGCTGTGGG rs71049990 TCGA-G9-6373-01A-11D-1786-08 TCGA-G9-6373-11A-01D-1786-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0caf5af2-ae80-4f39-ac6f-c2dbc2e8b820 c817606e-6c86-4fec-a7c7-e514459e4aba g.chr11:71276657_71276658insGGCTGTGGCTCCGGCTGTGGG ENST00000398531.1 + 1 49_50 c.24_25insGGCTGTGGCTCCGGCTGTGGG c.(22-27)gggctg>ggGGCTGTGGCTCCGGCTGTGGGgctg p.7_8insGAVAPAV KRTAP5-10_ENST00000376536.4_In_Frame_Ins_p.7_8insGAVAPAV NM_001012710.1 NP_001012728.1 Q6L8G5 KR510_HUMAN keratin associated protein 5-10 7 keratin filament endometrium(2)|large_intestine(1)|lung(4)|prostate(2)|skin(2)|upper_aerodigestive_tract(1) 12 GCTGCTCCGGAGGCTGTGGCTC 0.668 95 222 --- --- --- --- RP11-551L14.1 0 broad.mit.edu 37 12 31269189 31269190 + RNA INS - - ATCAT rs35880498 TCGA-G9-6373-01A-11D-1786-08 TCGA-G9-6373-11A-01D-1786-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0caf5af2-ae80-4f39-ac6f-c2dbc2e8b820 c817606e-6c86-4fec-a7c7-e514459e4aba g.chr12:31269189_31269190insATCAT ENST00000542490.1 - 0 165 central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(2)|lung(25)|prostate(3)|stomach(3)|urinary_tract(1) 41 CATGAGAACTCATTACCATGAT 0.351 5 10 --- --- --- --- SFSWAP 6433 broad.mit.edu 37 12 132281734 132281736 + In_Frame_Del DEL AGA AGA - TCGA-G9-6373-01A-11D-1786-08 TCGA-G9-6373-11A-01D-1786-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0caf5af2-ae80-4f39-ac6f-c2dbc2e8b820 c817606e-6c86-4fec-a7c7-e514459e4aba g.chr12:132281734_132281736delAGA ENST00000261674.4 + 16 2687_2689 c.2546_2548delAGA c.(2545-2550)gag>g p.EK849del SFSWAP_ENST00000539506.1_3'UTR|SFSWAP_ENST00000541286.1_In_Frame_Del_p.EK901del NM_004592.3 NP_004583.2 Q12872 SFSWA_HUMAN splicing factor, suppressor of white-apricot homolog (Drosophila) 849 Arg/Ser-rich (RS domain). mRNA splice site selection|regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus protein binding|RNA binding endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(9)|lung(8)|ovary(1)|skin(2) 25 AGTCCCCACGAGAAGAAGAAGAA 0.606 10 458 --- --- --- --- OTX2-AS1 0 broad.mit.edu 37 14 57508748 57508749 + RNA DEL GA GA - TCGA-G9-6373-01A-11D-1786-08 TCGA-G9-6373-11A-01D-1786-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0caf5af2-ae80-4f39-ac6f-c2dbc2e8b820 c817606e-6c86-4fec-a7c7-e514459e4aba g.chr14:57508748_57508749delGA ENST00000554725.1 + 0 344 TGAAGTTAAGGAGAGAAAAAAG 0.376 15 41 --- --- --- --- IL32 9235 broad.mit.edu 37 16 3119304 3119305 + Frame_Shift_Ins INS - - G rs2981599 TCGA-G9-6373-01A-11D-1786-08 TCGA-G9-6373-11A-01D-1786-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0caf5af2-ae80-4f39-ac6f-c2dbc2e8b820 c817606e-6c86-4fec-a7c7-e514459e4aba g.chr16:3119304_3119305insG ENST00000525643.2 + 7 847_848 c.515_516insG c.(514-516)gaafs p.E172fs IL32_ENST00000534507.1_Frame_Shift_Ins_p.E218fs|IL32_ENST00000552664.1_Frame_Shift_Ins_p.E172fs|IL32_ENST00000382213.3_Frame_Shift_Ins_p.E163fs|IL32_ENST00000529699.1_Frame_Shift_Ins_p.E152fs|IL32_ENST00000440815.3_Frame_Shift_Ins_p.E172fs|IL32_ENST00000551122.1_Frame_Shift_Ins_p.E115fs|IL32_ENST00000551513.1_Frame_Shift_Ins_p.E209fs|IL32_ENST00000529550.1_Frame_Shift_Ins_p.E172fs|IL32_ENST00000530890.1_Frame_Shift_Ins_p.E152fs|IL32_ENST00000549213.1_Frame_Shift_Ins_p.E115fs|IL32_ENST00000548652.1_Frame_Shift_Ins_p.E163fs|IL32_ENST00000533097.2_Frame_Shift_Ins_p.E172fs|IL32_ENST00000552936.1_Frame_Shift_Ins_p.E196fs|IL32_ENST00000396890.2_Frame_Shift_Ins_p.E218fs|IL32_ENST00000008180.9_Frame_Shift_Ins_p.E152fs|IL32_ENST00000396887.3_Frame_Shift_Ins_p.E115fs|IL32_ENST00000444393.3_Frame_Shift_Ins_p.E172fs|IL32_ENST00000526464.2_Frame_Shift_Ins_p.E172fs|IL32_ENST00000531965.1_Frame_Shift_Ins_p.E162fs|IL32_ENST00000528163.2_Frame_Shift_Ins_p.E172fs|IL32_ENST00000552356.1_Frame_Shift_Ins_p.E152fs|IL32_ENST00000548246.1_Frame_Shift_Ins_p.E132fs|IL32_ENST00000325568.5_Frame_Shift_Ins_p.E172fs|IL32_ENST00000530538.2_Frame_Shift_Ins_p.E172fs|IL32_ENST00000548476.1_Frame_Shift_Ins_p.E218fs P24001 IL32_HUMAN interleukin 32 218 cell adhesion|defense response|immune response extracellular space cytokine activity breast(1)|endometrium(1)|large_intestine(3)|lung(6)|ovary(1)|pancreas(1)|skin(1)|urinary_tract(1) 15 CCACGGGGGGACAAGGAGGAGC 0.574 27 653 --- --- --- --- OR7E24 26648 broad.mit.edu 37 19 9361741 9361741 + Frame_Shift_Del DEL T T - TCGA-G9-6373-01A-11D-1786-08 TCGA-G9-6373-11A-01D-1786-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0caf5af2-ae80-4f39-ac6f-c2dbc2e8b820 c817606e-6c86-4fec-a7c7-e514459e4aba g.chr19:9361741delT ENST00000456448.1 + 1 136 c.22delT c.(22-24)ttfs p.F11fs NM_001079935.1 NP_001073404.1 Q6IFN5 O7E24_HUMAN olfactory receptor, family 7, subfamily E, member 24 11 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity endometrium(1)|large_intestine(3)|lung(8)|ovary(1)|prostate(1)|skin(2) 16 TCCAATTCTCTTTTTTTTTTT 0.388 7 15 --- --- --- --- TPTEP1 0 broad.mit.edu 37 22 17131430 17131432 + RNA DEL CAC CAC - rs142037179 TCGA-G9-6373-01A-11D-1786-08 TCGA-G9-6373-11A-01D-1786-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0caf5af2-ae80-4f39-ac6f-c2dbc2e8b820 c817606e-6c86-4fec-a7c7-e514459e4aba g.chr22:17131430_17131432delCAC ENST00000426585.1 + 0 2456_2458 caccatccatcaccaacagaaac 0.443 3 3 --- --- --- ---