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 SLC16A10 117247 broad.mit.edu 37 6 111409193 111409193 + Missense_Mutation SNP T T C TCGA-CN-6019-01A-11D-1683-08 TCGA-CN-6019-10A-01D-1683-08 Untested Somatic Phase_I WXS none Illumina GAIIx 00769a89-ffc5-46f5-a42e-25b3eae886c2 424fb678-3744-4165-b4b3-daffa0319990 g.chr6:111409193T>C ENST00000368851.5 + 1 413 c.238T>C c.(238-240)Tgc>Cgc p.C80R NM_018593.4 NP_061063.2 Q8TF71 MOT10_HUMAN solute carrier family 16 (aromatic amino acid transporter), member 10 80 aromatic amino acid transport|cellular nitrogen compound metabolic process|ion transport basolateral plasma membrane|integral to membrane amino acid transmembrane transporter activity endometrium(1)|kidney(1)|large_intestine(2)|lung(6)|prostate(2) 12 all_cancers(87;0.00172)|Acute lymphoblastic leukemia(125;2.27e-07)|all_hematologic(75;1.38e-05)|all_epithelial(87;0.0313)|Colorectal(196;0.0466) OV - Ovarian serous cystadenocarcinoma(136;0.0703)|Epithelial(106;0.12)|all cancers(137;0.132) GGCCATGTGGTGCAACGGGTC 0.662000 6 20 0 0 0.248553 0 0 DNAH10 196385 broad.mit.edu 37 12 124341683 124341683 + Missense_Mutation SNP G G T TCGA-CN-6019-01A-11D-1683-08 TCGA-CN-6019-10A-01D-1683-08 Untested Somatic Phase_I WXS none Illumina GAIIx 00769a89-ffc5-46f5-a42e-25b3eae886c2 424fb678-3744-4165-b4b3-daffa0319990 g.chr12:124341683G>T ENST00000409039.3 + 36 6190 c.6165G>T c.(6163-6165)ttG>ttT p.L2055F NM_207437.3 NP_997320.2 Q8IVF4 DYH10_HUMAN dynein, axonemal, heavy chain 10 2055 microtubule-based movement cilium axoneme|cytoplasm|dynein complex|microtubule ATP binding|ATPase activity|microtubule motor activity breast(1)|central_nervous_system(1)|cervix(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|lung(14)|ovary(4)|prostate(2)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(1) 52 all_neural(191;0.101)|Medulloblastoma(191;0.163) OV - Ovarian serous cystadenocarcinoma(86;0.000207)|Epithelial(86;0.000556)|all cancers(50;0.00346) TCCTTGGTTTGATTTCGGATC 0.532000 6 54 0.00307968 0.00334215 0.278610 1 0 PTBP2 58155 broad.mit.edu 37 1 97272478 97272478 + Silent SNP C C T TCGA-CN-6019-01A-11D-1683-08 TCGA-CN-6019-10A-01D-1683-08 Untested Somatic Phase_I WXS none Illumina GAIIx 00769a89-ffc5-46f5-a42e-25b3eae886c2 424fb678-3744-4165-b4b3-daffa0319990 g.chr1:97272478C>T ENST00000236228.6 + 11 1217 c.1135C>T c.(1135-1137)Cta>Tta p.L379L PTBP2_ENST00000482253.1_3'UTR|PTBP2_ENST00000370198.1_Silent_p.L384L|PTBP2_ENST00000541987.1_3'UTR|PTBP2_ENST00000426398.2_Silent_p.L379L|PTBP2_ENST00000394184.3_Silent_p.L395L|PTBP2_ENST00000370197.1_Silent_p.L384L NM_021190.2 NP_067013.1 Q9UKA9 PTBP2_HUMAN polypyrimidine tract binding protein 2 379 RRM 3. nucleotide binding central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(15)|skin(1) 26 all_epithelial(167;2.95e-05)|all_lung(203;0.000396)|Lung NSC(277;0.00171) all cancers(265;0.0582)|Epithelial(280;0.0716)|Colorectal(170;0.0879)|KIRC - Kidney renal clear cell carcinoma(1967;0.202) AGACAGCGCTCTAATACAGAT 0.348000 4 52 0 0 0.217242 0 0 TIMD4 91937 broad.mit.edu 37 5 156349204 156349204 + Missense_Mutation SNP C C A TCGA-CN-6019-01A-11D-1683-08 TCGA-CN-6019-10A-01D-1683-08 Untested Somatic Phase_I WXS none Illumina GAIIx 00769a89-ffc5-46f5-a42e-25b3eae886c2 424fb678-3744-4165-b4b3-daffa0319990 g.chr5:156349204C>A ENST00000274532.2 - 7 974 c.918G>T c.(916-918)atG>atT p.M306I TIMD4_ENST00000407087.3_Missense_Mutation_p.M278I|TIMD4_ENST00000406964.1_Missense_Mutation_p.M8I NM_138379.2 NP_612388.2 Q96H15 TIMD4_HUMAN T-cell immunoglobulin and mucin domain containing 4 306 integral to membrane NS(1)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(23)|ovary(2)|skin(2) 37 Renal(175;0.00488) Medulloblastoma(196;0.0523)|all_neural(177;0.21) Kidney(164;0.000171)|KIRC - Kidney renal clear cell carcinoma(164;0.000785) TTTCATTCTTCATTGACATGG 0.502000 5 28 3.59834e-05 4.21646e-05 0.217242 1 0 NUP88 4927 broad.mit.edu 37 17 5290432 5290432 + Splice_Site SNP T T C TCGA-CN-6019-01A-11D-1683-08 TCGA-CN-6019-10A-01D-1683-08 Untested Somatic Phase_I WXS none Illumina GAIIx 00769a89-ffc5-46f5-a42e-25b3eae886c2 424fb678-3744-4165-b4b3-daffa0319990 g.chr17:5290432T>C ENST00000573584.1 - 15 2426 c.e15-2 NM_002532.4 NP_002523.2 Q99567 NUP88_HUMAN nucleoporin 88kDa carbohydrate metabolic process|glucose transport|mRNA transport|protein transport|regulation of glucose transport|transmembrane transport|viral reproduction cytosol|nuclear pore transporter activity endometrium(4)|kidney(4)|large_intestine(4)|lung(3) 15 TTTTTCATCCTTTAGAAAAGG 0.373000 11 29 0 0 0.361761 0 0 TANC1 85461 broad.mit.edu 37 2 160031502 160031502 + Nonsense_Mutation SNP C C G TCGA-CN-6019-01A-11D-1683-08 TCGA-CN-6019-10A-01D-1683-08 Untested Somatic Phase_I WXS none Illumina GAIIx 00769a89-ffc5-46f5-a42e-25b3eae886c2 424fb678-3744-4165-b4b3-daffa0319990 g.chr2:160031502C>G ENST00000263635.6 + 12 1779 c.1542C>G c.(1540-1542)taC>taG p.Y514* TANC1_ENST00000454300.1_Nonsense_Mutation_p.Y408* NM_001145909.1|NM_033394.2 NP_001139381.1|NP_203752.2 Q9C0D5 TANC1_HUMAN tetratricopeptide repeat, ankyrin repeat and coiled-coil containing 1 514 cell junction|postsynaptic density|postsynaptic membrane binding breast(3)|central_nervous_system(4)|cervix(2)|endometrium(6)|kidney(4)|large_intestine(9)|lung(25)|ovary(7)|pancreas(1)|prostate(3)|skin(3)|stomach(2)|upper_aerodigestive_tract(6)|urinary_tract(2) 77 ACAACACGTACACTTGCCTGG 0.577000 46 308 0 0 0.870114 0 0 EPB41L3 23136 broad.mit.edu 37 18 5419778 5419778 + Missense_Mutation SNP C C T TCGA-CN-6019-01A-11D-1683-08 TCGA-CN-6019-10A-01D-1683-08 Untested Somatic Phase_I WXS none Illumina GAIIx 00769a89-ffc5-46f5-a42e-25b3eae886c2 424fb678-3744-4165-b4b3-daffa0319990 g.chr18:5419778C>T ENST00000341928.2 - 12 1778 c.1438G>A c.(1438-1440)Gag>Aag p.E480K EPB41L3_ENST00000542652.2_5'UTR|EPB41L3_ENST00000542146.1_5'UTR|EPB41L3_ENST00000427684.2_5'UTR|EPB41L3_ENST00000540638.2_Missense_Mutation_p.E498K|EPB41L3_ENST00000342933.3_Missense_Mutation_p.E480K|EPB41L3_ENST00000400111.3_Missense_Mutation_p.E498K|EPB41L3_ENST00000544123.1_Missense_Mutation_p.E498K NM_012307.2 NP_036439.2 Q9Y2J2 E41L3_HUMAN erythrocyte membrane protein band 4.1-like 3 480 Hydrophilic. cortical actin cytoskeleton organization cell-cell junction|cytoplasm|cytoskeleton|extrinsic to membrane actin binding|structural molecule activity breast(1)|central_nervous_system(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(24)|lung(52)|ovary(5)|prostate(4)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1) 105 tcctcttcctcgtcccgctcc 0.572000 9 46 0 0 0.307466 0 0 ZNF415 55786 broad.mit.edu 37 19 53611805 53611805 + Missense_Mutation SNP C C A TCGA-CN-6019-01A-11D-1683-08 TCGA-CN-6019-10A-01D-1683-08 Untested Somatic Phase_I WXS none Illumina GAIIx 00769a89-ffc5-46f5-a42e-25b3eae886c2 424fb678-3744-4165-b4b3-daffa0319990 g.chr19:53611805C>A ENST00000455735.2 - 7 1957 c.1637G>T c.(1636-1638)tGt>tTt p.C546F ZNF415_ENST00000597503.1_3'UTR|ZNF415_ENST00000448501.1_Missense_Mutation_p.C546F|ZNF415_ENST00000440291.1_Missense_Mutation_p.C485F|ZNF415_ENST00000421033.1_Missense_Mutation_p.C510F|ZNF415_ENST00000243643.4_Missense_Mutation_p.C498F|ZNF415_ENST00000500065.4_Missense_Mutation_p.C498F|ZNF415_ENST00000594011.1_3'UTR|ZNF415_ENST00000595193.1_3'UTR|ZNF415_ENST00000601493.1_Missense_Mutation_p.C268F|ZNF415_ENST00000597748.1_3'UTR Q09FC8 ZN415_HUMAN zinc finger protein 415 546 regulation of transcription, DNA-dependent|transcription, DNA-dependent cytoplasm|microtubule cytoskeleton|nucleolus DNA binding|zinc ion binding breast(1)|kidney(3)|large_intestine(8)|lung(11)|ovary(2)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 31 GBM - Glioblastoma multiforme(134;0.0191) ACACTCATTACATTTGTAAGG 0.413000 25 161 4.87955e-14 6.42755e-14 0.693898 1 0 NCAM2 4685 broad.mit.edu 37 21 22906914 22906914 + Missense_Mutation SNP C C A TCGA-CN-6019-01A-11D-1683-08 TCGA-CN-6019-10A-01D-1683-08 Untested Somatic Phase_I WXS none Illumina GAIIx 00769a89-ffc5-46f5-a42e-25b3eae886c2 424fb678-3744-4165-b4b3-daffa0319990 g.chr21:22906914C>A ENST00000400546.1 + 17 2588 c.2339C>A c.(2338-2340)aCt>aAt p.T780N NCAM2_ENST00000284894.7_Missense_Mutation_p.T638N NM_004540.3 NP_004531.2 O15394 NCAM2_HUMAN neural cell adhesion molecule 2 780 neuron cell-cell adhesion integral to membrane|plasma membrane breast(4)|cervix(2)|endometrium(8)|kidney(6)|large_intestine(22)|liver(4)|lung(49)|ovary(4)|prostate(4)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1) 108 Lung NSC(9;0.195) all cancers(11;0.00102)|OV - Ovarian serous cystadenocarcinoma(11;0.00121)|Epithelial(23;0.00147)|Colorectal(24;0.174) GAAAGAGTTACTAATCACGAA 0.398000 8 32 0.00448238 0.00483692 0.307466 1 0 TPTE 7179 broad.mit.edu 37 21 10920139 10920139 + Missense_Mutation SNP C C T TCGA-CN-6019-01A-11D-1683-08 TCGA-CN-6019-10A-01D-1683-08 Untested Somatic Phase_I WXS none Illumina GAIIx 00769a89-ffc5-46f5-a42e-25b3eae886c2 424fb678-3744-4165-b4b3-daffa0319990 g.chr21:10920139C>T ENST00000298232.7 - 18 1428 c.1061G>A c.(1060-1062)aGg>aAg p.R354K TPTE_ENST00000342420.5_Missense_Mutation_p.R334K|TPTE_ENST00000415664.2_5'UTR|TPTE_ENST00000361285.4_Missense_Mutation_p.R372K NM_199259.2 NP_954868.1 P56180 TPTE_HUMAN transmembrane phosphatase with tensin homology 372 Phosphatase tensin-type. signal transduction integral to membrane ion channel activity|protein tyrosine phosphatase activity|protein tyrosine/serine/threonine phosphatase activity NS(1)|breast(1)|central_nervous_system(2)|cervix(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(19)|lung(76)|ovary(2)|prostate(2)|skin(8)|urinary_tract(1) 130 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) ATCTGTTCGCCTTTCTCCAAA 0.378000 15 131 0 0 0.539581 0 0 RPL36 25873 broad.mit.edu 37 19 5691434 5691434 + Missense_Mutation SNP C C A TCGA-CN-6019-01A-11D-1683-08 TCGA-CN-6019-10A-01D-1683-08 Untested Somatic Phase_I WXS none Illumina GAIIx 00769a89-ffc5-46f5-a42e-25b3eae886c2 424fb678-3744-4165-b4b3-daffa0319990 g.chr19:5691434C>A ENST00000577222.1 + 5 742 c.198C>A c.(196-198)gaC>gaA p.D66E RPL36_ENST00000347512.3_Missense_Mutation_p.D66E|RPL36_ENST00000394580.2_Missense_Mutation_p.D66E|RPL36_ENST00000579649.1_Missense_Mutation_p.D66E|RPL36_ENST00000579446.1_Missense_Mutation_p.D66E Q9Y3U8 RL36_HUMAN ribosomal protein L36 66 endocrine pancreas development|translational elongation|translational termination|viral transcription cytosolic large ribosomal subunit|nucleolus protein binding|structural constituent of ribosome breast(1)|upper_aerodigestive_tract(1) 2 TCTCCAAGGACAAACGGGCCC 0.627000 OREG0025183 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 14 77 0.00185496 0.00203619 0.435327 1 0 STK10 6793 broad.mit.edu 37 5 171517330 171517330 + Missense_Mutation SNP G G A TCGA-CN-6019-01A-11D-1683-08 TCGA-CN-6019-10A-01D-1683-08 Untested Somatic Phase_I WXS none Illumina GAIIx 00769a89-ffc5-46f5-a42e-25b3eae886c2 424fb678-3744-4165-b4b3-daffa0319990 g.chr5:171517330G>A ENST00000176763.5 - 10 1934 c.1591C>T c.(1591-1593)Cgc>Tgc p.R531C NM_005990.3 NP_005981.3 O94804 STK10_HUMAN serine/threonine kinase 10 531 ATP binding|protein serine/threonine kinase activity breast(2)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|lung(15)|ovary(6)|pancreas(1)|prostate(1)|testis(1)|upper_aerodigestive_tract(2)|urinary_tract(2) 47 Renal(175;0.000159)|Lung NSC(126;0.0056)|all_lung(126;0.0094) Medulloblastoma(196;0.00868)|all_neural(177;0.026) Kidney(164;7.24e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000516) ACAAATTTGCGTGTCCGCTTG 0.502000 7 188 0 0 0.278610 0 0 XIST 7503 broad.mit.edu 37 X 73064328 73064328 + RNA SNP T T C TCGA-CN-6019-01A-11D-1683-08 TCGA-CN-6019-10A-01D-1683-08 Untested Somatic Phase_I WXS none Illumina GAIIx 00769a89-ffc5-46f5-a42e-25b3eae886c2 424fb678-3744-4165-b4b3-daffa0319990 g.chrX:73064328T>C ENST00000429829.1 - 0 8260 NR_001564.2 TAGGACTTTATTCAAATAGGA 0.428000 6 17 0 0 0.217242 0 0 ABCA6 23460 broad.mit.edu 37 17 67111520 67111520 + Nonsense_Mutation SNP C C A TCGA-CN-6019-01A-11D-1683-08 TCGA-CN-6019-10A-01D-1683-08 Untested Somatic Phase_I WXS none Illumina GAIIx 00769a89-ffc5-46f5-a42e-25b3eae886c2 424fb678-3744-4165-b4b3-daffa0319990 g.chr17:67111520C>A ENST00000284425.2 - 12 1777 c.1603G>T c.(1603-1605)Gaa>Taa p.E535* NM_080284.2 NP_525023.2 Q8N139 ABCA6_HUMAN ATP-binding cassette, sub-family A (ABC1), member 6 535 ABC transporter 1. transport integral to membrane ATP binding|ATPase activity breast(6)|endometrium(5)|kidney(17)|large_intestine(18)|lung(20)|ovary(3)|prostate(2)|skin(5)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(1) 82 Breast(10;5.65e-12) TACTCACCTTCTGTTGGAACA 0.358000 16 85 1.02788e-11 1.32653e-11 0.520397 1 0 SYNE1 23345 broad.mit.edu 37 6 152529258 152529258 + Missense_Mutation SNP A A T TCGA-CN-6019-01A-11D-1683-08 TCGA-CN-6019-10A-01D-1683-08 Untested Somatic Phase_I WXS none Illumina GAIIx 00769a89-ffc5-46f5-a42e-25b3eae886c2 424fb678-3744-4165-b4b3-daffa0319990 g.chr6:152529258A>T ENST00000367255.5 - 125 23274 c.22673T>A c.(22672-22674)aTt>aAt p.I7558N SYNE1_ENST00000341594.5_Missense_Mutation_p.I7170N|SYNE1_ENST00000448038.1_Missense_Mutation_p.I7487N|SYNE1_ENST00000356820.4_Missense_Mutation_p.I2082N|SYNE1_ENST00000423061.1_Missense_Mutation_p.I7487N|SYNE1_ENST00000265368.4_Missense_Mutation_p.I7558N NM_182961.3 NP_892006.3 Q8NF91 SYNE1_HUMAN spectrin repeat containing, nuclear envelope 1 7558 cell death|cytoskeletal anchoring at nuclear membrane|Golgi organization|muscle cell differentiation|nuclear matrix anchoring at nuclear membrane cytoskeleton|Golgi apparatus|integral to membrane|nuclear outer membrane|postsynaptic membrane|sarcomere|SUN-KASH complex actin binding|lamin binding NS(3)|biliary_tract(1)|breast(17)|central_nervous_system(21)|cervix(3)|endometrium(27)|haematopoietic_and_lymphoid_tissue(4)|kidney(16)|large_intestine(138)|liver(1)|lung(190)|ovary(11)|pancreas(5)|prostate(12)|skin(20)|stomach(3)|upper_aerodigestive_tract(33)|urinary_tract(19) 524 Ovarian(120;0.0955) BRCA - Breast invasive adenocarcinoma(37;0.243) OV - Ovarian serous cystadenocarcinoma(155;2.24e-10) CTGGCTGTCAATGATCCCCCG 0.502000 HNSCC(10;0.0054) 4 39 0 0 0.184627 0 0 ARHGAP5 394 broad.mit.edu 37 14 32586346 32586346 + Splice_Site SNP C C T TCGA-CN-6019-01A-11D-1683-08 TCGA-CN-6019-10A-01D-1683-08 Untested Somatic Phase_I WXS none Illumina GAIIx 00769a89-ffc5-46f5-a42e-25b3eae886c2 424fb678-3744-4165-b4b3-daffa0319990 g.chr14:32586346C>T ENST00000345122.3 + 3 4033 c.3717_splice c.e3-1 p.Q1240_splice ARHGAP5_ENST00000432921.1_Intron|ARHGAP5_ENST00000556611.1_Intron|ARHGAP5_ENST00000433497.1_Intron|ARHGAP5_ENST00000539826.2_Splice_Site_p.Q1240_splice|ARHGAP5_ENST00000396582.2_Intron NM_001030055.1 NP_001025226.1 Q13017 RHG05_HUMAN Rho GTPase activating protein 5 1240 Lys-rich. cell adhesion|Rho protein signal transduction cytosol|membrane GTP binding|GTPase activity|Rho GTPase activator activity|SH2 domain binding NS(2)|breast(10)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(10)|lung(12)|ovary(4)|skin(1)|stomach(1)|urinary_tract(4) 55 Hepatocellular(127;0.0604)|Prostate(35;0.15)|Breast(36;0.186) LUAD - Lung adenocarcinoma(48;0.00192)|Lung(238;0.00714)|BRCA - Breast invasive adenocarcinoma(188;0.0952)|STAD - Stomach adenocarcinoma(7;0.173) GBM - Glioblastoma multiforme(265;0.00566) TTTCTTATAGCAGAAAAAGAA 0.323000 9 38 0 0 0.307466 0 0 USH2A 7399 broad.mit.edu 37 1 215940123 215940123 + Missense_Mutation SNP C C G TCGA-CN-6019-01A-11D-1683-08 TCGA-CN-6019-10A-01D-1683-08 Untested Somatic Phase_I WXS none Illumina GAIIx 00769a89-ffc5-46f5-a42e-25b3eae886c2 424fb678-3744-4165-b4b3-daffa0319990 g.chr1:215940123C>G ENST00000366943.2 - 56 11333 c.10947G>C c.(10945-10947)caG>caC p.Q3649H USH2A_ENST00000307340.3_Missense_Mutation_p.Q3649H O75445 USH2A_HUMAN Usher syndrome 2A (autosomal recessive, mild) 3649 Fibronectin type-III 21. maintenance of organ identity|photoreceptor cell maintenance|response to stimulus|sensory perception of sound basement membrane|cytoplasm|integral to membrane|stereocilium membrane collagen binding NS(7)|breast(20)|central_nervous_system(3)|cervix(2)|endometrium(32)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(71)|liver(2)|lung(282)|ovary(25)|pancreas(2)|prostate(12)|skin(22)|stomach(7)|upper_aerodigestive_tract(20)|urinary_tract(3) 527 OV - Ovarian serous cystadenocarcinoma(81;0.0547)|all cancers(67;0.0875) TGGTGTATGGCTGGAGACCTA 0.423000 HNSCC(13;0.011) 11 50 0 0 0.411799 0 0 CLVS1 157807 broad.mit.edu 37 8 62212794 62212794 + Nonsense_Mutation SNP C C A TCGA-CN-6019-01A-11D-1683-08 TCGA-CN-6019-10A-01D-1683-08 Untested Somatic Phase_I WXS none Illumina GAIIx 00769a89-ffc5-46f5-a42e-25b3eae886c2 424fb678-3744-4165-b4b3-daffa0319990 g.chr8:62212794C>A ENST00000519846.1 + 3 880 c.408C>A c.(406-408)taC>taA p.Y136* CLVS1_ENST00000518592.1_Intron|CLVS1_ENST00000325897.4_Nonsense_Mutation_p.Y136*|RP11-787D18.1_ENST00000518064.1_RNA Q8IUQ0 CLVS1_HUMAN clavesin 1 136 CRAL-TRIO. lysosome organization clathrin-coated vesicle|early endosome membrane|trans-Golgi network phosphatidylinositol-3,5-bisphosphate binding|transporter activity p.Y136*(1) endometrium(3)|kidney(4)|large_intestine(4)|lung(21)|ovary(1)|prostate(2)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1) 41 GAGACCATTACGGCAGGAAGA 0.443000 9 28 2.17888e-05 2.56892e-05 0.335167 1 0 GLDN 342035 broad.mit.edu 37 15 51696913 51696913 + Missense_Mutation SNP T T C TCGA-CN-6019-01A-11D-1683-08 TCGA-CN-6019-10A-01D-1683-08 Untested Somatic Phase_I WXS none Illumina GAIIx 00769a89-ffc5-46f5-a42e-25b3eae886c2 424fb678-3744-4165-b4b3-daffa0319990 g.chr15:51696913T>C ENST00000335449.6 + 10 1674 c.1618T>C c.(1618-1620)Tat>Cat p.Y540H GLDN_ENST00000396399.2_Missense_Mutation_p.Y416H NM_181789.2 NP_861454.2 Q6ZMI3 GLDN_HUMAN gliomedin 540 Olfactomedin-like. cell differentiation|nervous system development collagen|integral to membrane|plasma membrane central_nervous_system(1)|kidney(2)|large_intestine(4)|lung(6)|ovary(2)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1) 19 all cancers(107;0.00194)|GBM - Glioblastoma multiforme(94;0.00942) TTTAATGCTTTATCCTGTGCA 0.413000 19 99 0 0 0.557998 0 0 COL22A1 169044 broad.mit.edu 37 8 139649017 139649017 + Missense_Mutation SNP C C T TCGA-CN-6019-01A-11D-1683-08 TCGA-CN-6019-10A-01D-1683-08 Untested Somatic Phase_I WXS none Illumina GAIIx 00769a89-ffc5-46f5-a42e-25b3eae886c2 424fb678-3744-4165-b4b3-daffa0319990 g.chr8:139649017C>T ENST00000303045.6 - 48 3969 c.3523G>A c.(3523-3525)Gca>Aca p.A1175T COL22A1_ENST00000435777.1_Missense_Mutation_p.A1155T|COL22A1_ENST00000341807.4_5'UTR NM_152888.1 NP_690848.1 Q8NFW1 COMA1_HUMAN collagen, type XXII, alpha 1 1175 Collagen-like 11.|Gly-rich.|Pro-rich. cell adhesion collagen|cytoplasm structural molecule activity 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) TCACCATCTGCACCACGTTCT 0.393000 HNSCC(7;0.00092) 33 162 0 0 0.769981 0 0 OR3A4P 390756 broad.mit.edu 37 17 3214151 3214151 + RNA SNP G G C TCGA-CN-6019-01A-11D-1683-08 TCGA-CN-6019-10A-01D-1683-08 Untested Somatic Phase_I WXS none Illumina GAIIx 00769a89-ffc5-46f5-a42e-25b3eae886c2 424fb678-3744-4165-b4b3-daffa0319990 g.chr17:3214151G>C ENST00000573491.1 - 0 359 OR3A4P_ENST00000323164.4_RNA CTTCTACTGTGACCTCCCACA 0.517000 24 96 0 0 0.681144 0 0 SMEK2 57223 broad.mit.edu 37 2 55808822 55808822 + Missense_Mutation SNP T T A TCGA-CN-6019-01A-11D-1683-08 TCGA-CN-6019-10A-01D-1683-08 Untested Somatic Phase_I WXS none Illumina GAIIx 00769a89-ffc5-46f5-a42e-25b3eae886c2 424fb678-3744-4165-b4b3-daffa0319990 g.chr2:55808822T>A ENST00000272313.5 - 8 1573 c.1246A>T c.(1246-1248)Att>Ttt p.I416F SMEK2_ENST00000345102.5_Missense_Mutation_p.I416F|SMEK2_ENST00000407823.3_Missense_Mutation_p.I416F NM_020463.2 NP_065196.1 Q5MIZ7 P4R3B_HUMAN SMEK homolog 2, suppressor of mek1 (Dictyostelium) 416 microtubule organizing center|nucleus protein binding kidney(1)|large_intestine(4)|liver(1)|lung(7)|ovary(1)|prostate(1)|skin(1) 16 LUSC - Lung squamous cell carcinoma(58;0.127)|Lung(47;0.132) ACCACATTAATAAGAAGAATA 0.373000 12 48 0 0 0.411799 0 0 COL6A6 131873 broad.mit.edu 37 3 130287412 130287412 + Missense_Mutation SNP G G C TCGA-CN-6019-01A-11D-1683-08 TCGA-CN-6019-10A-01D-1683-08 Untested Somatic Phase_I WXS none Illumina GAIIx 00769a89-ffc5-46f5-a42e-25b3eae886c2 424fb678-3744-4165-b4b3-daffa0319990 g.chr3:130287412G>C ENST00000358511.6 + 5 2396 c.2365G>C c.(2365-2367)Gat>Cat p.D789H COL6A6_ENST00000453409.2_Missense_Mutation_p.D789H NM_001102608.1 NP_001096078.1 A6NMZ7 CO6A6_HUMAN collagen, type VI, alpha 6 789 Nonhelical region.|VWFA 4. axon guidance|cell adhesion collagen NS(2)|breast(5)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(30)|lung(57)|ovary(8)|pancreas(1)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(2) 134 GCGCATTGAAGATGATCTTGT 0.463000 8 85 0 0 0.307466 0 0 NCAN 1463 broad.mit.edu 37 19 19338426 19338426 + Missense_Mutation SNP C C T rs111534277 byFrequency TCGA-CN-6019-01A-11D-1683-08 TCGA-CN-6019-10A-01D-1683-08 Untested Somatic Phase_I WXS none Illumina GAIIx 00769a89-ffc5-46f5-a42e-25b3eae886c2 424fb678-3744-4165-b4b3-daffa0319990 g.chr19:19338426C>T ENST00000252575.5 + 8 2040 c.1997C>T c.(1996-1998)aCg>aTg p.T666M NCAN_ENST00000538881.1_Missense_Mutation_p.T117M NM_004386.2 NP_004377.2 O14594 NCAN_HUMAN neurocan 666 axon guidance|cell adhesion extracellular region calcium ion binding|hyaluronic acid binding|sugar binding breast(1)|cervix(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|lung(32)|ovary(5)|pancreas(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(1) 64 Epithelial(12;0.00544) GCCACCGCCACGGCTCCACCC 0.612000 20 108 0 0 0.592651 0 0 UPF1 5976 broad.mit.edu 37 19 18966828 18966828 + Missense_Mutation SNP A A G TCGA-CN-6019-01A-11D-1683-08 TCGA-CN-6019-10A-01D-1683-08 Untested Somatic Phase_I WXS none Illumina GAIIx 00769a89-ffc5-46f5-a42e-25b3eae886c2 424fb678-3744-4165-b4b3-daffa0319990 g.chr19:18966828A>G ENST00000262803.5 + 12 1911 c.1639A>G c.(1639-1641)Aag>Gag p.K547E UPF1_ENST00000599848.1_Missense_Mutation_p.K558E NM_002911.3 NP_002902.2 Q92900 RENT1_HUMAN UPF1 regulator of nonsense transcripts homolog (yeast) 558 cell cycle|DNA repair|DNA replication|histone mRNA catabolic process|mRNA export from nucleus|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay|regulation of translational termination chromatin|cytoplasmic mRNA processing body|exon-exon junction complex ATP binding|ATP-dependent RNA helicase activity|chromatin binding|DNA binding|protein binding|RNA binding|zinc ion binding breast(1)|central_nervous_system(2)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(11)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(2) 40 CCTCTGCGCCAAGAGCCGTGA 0.612000 5 18 0 0 0.217242 0 0 EYS 346007 broad.mit.edu 37 6 66094289 66094289 + Missense_Mutation SNP C C A TCGA-CN-6019-01A-11D-1683-08 TCGA-CN-6019-10A-01D-1683-08 Untested Somatic Phase_I WXS none Illumina GAIIx 00769a89-ffc5-46f5-a42e-25b3eae886c2 424fb678-3744-4165-b4b3-daffa0319990 g.chr6:66094289C>A ENST00000503581.1 - 8 1826 c.1289G>T c.(1288-1290)gGa>gTa p.G430V EYS_ENST00000370616.2_Missense_Mutation_p.G430V|EYS_ENST00000370618.3_Missense_Mutation_p.G430V|EYS_ENST00000393380.2_Missense_Mutation_p.G430V|EYS_ENST00000370621.3_Missense_Mutation_p.G430V|EYS_ENST00000342421.5_Missense_Mutation_p.G430V NM_001142800.1 NP_001136272.1 Q5T1H1 EYS_HUMAN eyes shut homolog (Drosophila) 430 response to stimulus|visual perception extracellular region calcium ion binding breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(12)|lung(42)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(3) 69 TTTGAATCTTCCAATTATATT 0.308000 5 42 0.0215528 0.0221321 0.217242 1 0 DNMBP 23268 broad.mit.edu 37 10 101731794 101731794 + Missense_Mutation SNP C C T TCGA-CN-6019-01A-11D-1683-08 TCGA-CN-6019-10A-01D-1683-08 Untested Somatic Phase_I WXS none Illumina GAIIx 00769a89-ffc5-46f5-a42e-25b3eae886c2 424fb678-3744-4165-b4b3-daffa0319990 g.chr10:101731794C>T ENST00000342239.3 - 2 179 c.88G>A c.(88-90)Gag>Aag p.E30K DNMBP_ENST00000324109.4_Missense_Mutation_p.E30K Q6XZF7 DNMBP_HUMAN dynamin binding protein 30 SH3 1. intracellular signal transduction|regulation of Rho protein signal transduction cell junction|cytoskeleton|Golgi stack|synapse protein binding|Rho guanyl-nucleotide exchange factor activity central_nervous_system(1)|cervix(4)|endometrium(9)|large_intestine(14)|lung(19)|ovary(5)|prostate(1)|skin(6)|stomach(1)|upper_aerodigestive_tract(1) 61 Colorectal(252;0.234) Epithelial(162;2.94e-10)|all cancers(201;3.15e-08) GCCAGCACCTCAATAATATCT 0.468000 32 103 0 0 0.760397 0 0 MED13L 23389 broad.mit.edu 37 12 116445306 116445306 + Silent SNP A A G TCGA-CN-6019-01A-11D-1683-08 TCGA-CN-6019-10A-01D-1683-08 Untested Somatic Phase_I WXS none Illumina GAIIx 00769a89-ffc5-46f5-a42e-25b3eae886c2 424fb678-3744-4165-b4b3-daffa0319990 g.chr12:116445306A>G ENST00000281928.3 - 11 2354 c.2148T>C c.(2146-2148)taT>taC p.Y716Y NM_015335.4 NP_056150.1 Q71F56 MD13L_HUMAN mediator complex subunit 13-like 716 regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent 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) CTTCAAAGGTATATGGGTCAT 0.433000 23 135 0 0 0.639603 0 0 DUS2 54920 broad.mit.edu 37 16 68112759 68112759 + Missense_Mutation SNP G G A TCGA-CN-6019-01A-11D-1683-08 TCGA-CN-6019-10A-01D-1683-08 Untested Somatic Phase_I WXS none Illumina GAIIx 00769a89-ffc5-46f5-a42e-25b3eae886c2 424fb678-3744-4165-b4b3-daffa0319990 g.chr16:68112759G>A ENST00000565263.1 + 17 1846 c.1352G>A c.(1351-1353)cGa>cAa p.R451Q DUS2L_ENST00000432752.1_Missense_Mutation_p.R416Q|DUS2L_ENST00000358896.6_Missense_Mutation_p.R451Q|RP11-67A1.2_ENST00000548144.1_RNA NM_017803.3 NP_060273.1 Q9NX74 DUS2L_HUMAN 451 tRNA processing endoplasmic reticulum double-stranded RNA binding|flavin adenine dinucleotide binding|tRNA dihydrouridine synthase activity breast(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(2)|lung(12)|ovary(1)|skin(1)|stomach(1) 24 Ovarian(137;0.192) OV - Ovarian serous cystadenocarcinoma(108;0.0131)|Epithelial(162;0.0564) TTGCACAAGCGAAAGAGGGAG 0.627000 13 57 0 0 0.411799 0 0 NUTM2B-AS1 101060691 broad.mit.edu 37 10 81444997 81444997 + RNA SNP T T C TCGA-CN-6019-01A-11D-1683-08 TCGA-CN-6019-10A-01D-1683-08 Untested Somatic Phase_I WXS none Illumina GAIIx 00769a89-ffc5-46f5-a42e-25b3eae886c2 424fb678-3744-4165-b4b3-daffa0319990 g.chr10:81444997T>C ENST00000600376.1 - 0 54 RP11-119F19.2_ENST00000596088.1_RNA ACAACAATTTTCGGGCTTGCA 0.612000 2 5 0 0 0.115264 0 0 CUL3 8452 broad.mit.edu 37 2 225365129 225365129 + Nonsense_Mutation SNP T T A TCGA-CN-6019-01A-11D-1683-08 TCGA-CN-6019-10A-01D-1683-08 Untested Somatic Phase_I WXS none Illumina GAIIx 00769a89-ffc5-46f5-a42e-25b3eae886c2 424fb678-3744-4165-b4b3-daffa0319990 g.chr2:225365129T>A ENST00000264414.4 - 11 1899 c.1561A>T c.(1561-1563)Aag>Tag p.K521* CUL3_ENST00000409096.1_Nonsense_Mutation_p.K497*|CUL3_ENST00000344951.4_Nonsense_Mutation_p.K455*|CUL3_ENST00000409777.1_Nonsense_Mutation_p.K497* NM_003590.4 NP_003581.1 Q13618 CUL3_HUMAN cullin 3 521 cell cycle arrest|cell migration|cyclin catabolic process|cytokinesis|G1/S transition of mitotic cell cycle|induction of apoptosis by intracellular signals|mitotic anaphase|negative regulation of Rho protein signal transduction|positive regulation of cell proliferation|protein ubiquitination|stress fiber assembly Cul3-RING ubiquitin ligase complex|Golgi apparatus|nucleus|polar microtubule ubiquitin protein ligase binding endometrium(6)|haematopoietic_and_lymphoid_tissue(3)|kidney(7)|large_intestine(2)|liver(1)|lung(19)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(3) 46 all_lung(227;0.00877)|Lung NSC(271;0.011)|Renal(207;0.0112)|all_hematologic(139;0.138) Epithelial(121;1.58e-11)|all cancers(144;1.43e-08)|Lung(261;0.00863)|LUSC - Lung squamous cell carcinoma(224;0.00902) ATGTTGCACTTTGGTGTGGCT 0.413000 20 105 0 0 0.592651 0 0 ARPP21 10777 broad.mit.edu 37 3 35730853 35730853 + Missense_Mutation SNP T T A TCGA-CN-6019-01A-11D-1683-08 TCGA-CN-6019-10A-01D-1683-08 Untested Somatic Phase_I WXS none Illumina GAIIx 00769a89-ffc5-46f5-a42e-25b3eae886c2 424fb678-3744-4165-b4b3-daffa0319990 g.chr3:35730853T>A ENST00000187397.4 + 7 917 c.461T>A c.(460-462)aTt>aAt p.I154N ARPP21_ENST00000458225.1_Missense_Mutation_p.I154N|ARPP21_ENST00000337271.5_Missense_Mutation_p.I154N|ARPP21_ENST00000417925.1_Missense_Mutation_p.I154N|ARPP21_ENST00000444190.1_Missense_Mutation_p.I154N NM_016300.4 NP_057384.2 Q9UBL0 ARP21_HUMAN cAMP-regulated phosphoprotein, 21kDa 154 cytoplasm nucleic acid binding cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(12)|lung(31)|ovary(3)|prostate(4)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1) 61 GAGTTTCTGATTAACACATTA 0.343000 13 53 0 0 0.411799 0 0 ENPP2 5168 broad.mit.edu 37 8 120595959 120595959 + Missense_Mutation SNP C C G TCGA-CN-6019-01A-11D-1683-08 TCGA-CN-6019-10A-01D-1683-08 Untested Somatic Phase_I WXS none Illumina GAIIx 00769a89-ffc5-46f5-a42e-25b3eae886c2 424fb678-3744-4165-b4b3-daffa0319990 g.chr8:120595959C>G ENST00000427067.2 - 17 1709 c.1529G>C c.(1528-1530)tGt>tCt p.C510S ENPP2_ENST00000075322.6_Missense_Mutation_p.C514S|ENPP2_ENST00000259486.6_Missense_Mutation_p.C566S|ENPP2_ENST00000522826.1_Missense_Mutation_p.C514S|ENPP2_ENST00000522167.1_Missense_Mutation_p.C153S Q13822 ENPP2_HUMAN ectonucleotide pyrophosphatase/phosphodiesterase 2 514 cellular component movement|chemotaxis|G-protein coupled receptor protein signaling pathway|immune response|phosphate metabolic process|phosphatidylcholine catabolic process|regulation of cell migration extracellular space|integral to plasma membrane alkylglycerophosphoethanolamine phosphodiesterase activity|calcium ion binding|lysophospholipase activity|nucleic acid binding|nucleotide diphosphatase activity|phosphodiesterase I activity|polysaccharide binding|scavenger receptor activity|transcription factor binding|zinc ion binding breast(1)|central_nervous_system(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(15)|lung(30)|ovary(2)|prostate(2)|skin(4)|upper_aerodigestive_tract(4) 69 Lung NSC(37;5.03e-06)|Ovarian(258;0.0249)|Hepatocellular(40;0.161) STAD - Stomach adenocarcinoma(47;0.00185) TGACTTACCACACATAACATT 0.318000 10 63 0 0 0.335167 0 0 MYO18B 84700 broad.mit.edu 37 22 26194047 26194047 + Missense_Mutation SNP C C T TCGA-CN-6019-01A-11D-1683-08 TCGA-CN-6019-10A-01D-1683-08 Untested Somatic Phase_I WXS none Illumina GAIIx 00769a89-ffc5-46f5-a42e-25b3eae886c2 424fb678-3744-4165-b4b3-daffa0319990 g.chr22:26194047C>T ENST00000335473.7 + 12 2754 c.2504C>T c.(2503-2505)gCg>gTg p.A835V MYO18B_ENST00000536101.1_Missense_Mutation_p.A835V|MYO18B_ENST00000407587.2_Missense_Mutation_p.A835V NM_032608.5 NP_115997.5 Q8IUG5 MY18B_HUMAN myosin XVIIIB 835 Myosin head-like. A -> G (in a lung squamous cell carcinoma sample; somatic mutation). nucleus|sarcomere|unconventional myosin complex actin binding|ATP binding|motor activity p.A835E(1) NS(2)|breast(6)|central_nervous_system(3)|endometrium(12)|haematopoietic_and_lymphoid_tissue(4)|kidney(5)|large_intestine(27)|liver(2)|lung(60)|ovary(7)|prostate(8)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(2) 146 CACCTGGGTGCGGCGGGGGCC 0.662000 9 17 0 0 0.457914 0 0 DNAH17 8632 broad.mit.edu 37 17 76540009 76540009 + Missense_Mutation SNP C C A TCGA-CN-6019-01A-11D-1683-08 TCGA-CN-6019-10A-01D-1683-08 Untested Somatic Phase_I WXS none Illumina GAIIx 00769a89-ffc5-46f5-a42e-25b3eae886c2 424fb678-3744-4165-b4b3-daffa0319990 g.chr17:76540009C>A ENST00000389840.5 - 17 2586 c.2462G>T c.(2461-2463)aGa>aTa p.R821I DNAH17_ENST00000585328.1_Missense_Mutation_p.R821I dynein, axonemal, heavy chain 17 NS(2)|breast(7)|central_nervous_system(5)|cervix(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(1)|kidney(13)|large_intestine(8)|lung(37)|ovary(8)|prostate(7)|skin(4)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(3) 116 BRCA - Breast invasive adenocarcinoma(99;0.00294)|OV - Ovarian serous cystadenocarcinoma(97;0.0656) GTTGGCAATTCTTCCATCCAA 0.498000 29 175 6.38683e-12 8.29854e-12 0.729181 1 0 TTLL4 9654 broad.mit.edu 37 2 219609873 219609873 + Missense_Mutation SNP A A G TCGA-CN-6019-01A-11D-1683-08 TCGA-CN-6019-10A-01D-1683-08 Untested Somatic Phase_I WXS none Illumina GAIIx 00769a89-ffc5-46f5-a42e-25b3eae886c2 424fb678-3744-4165-b4b3-daffa0319990 g.chr2:219609873A>G ENST00000392102.1 + 6 2043 c.1703A>G c.(1702-1704)gAg>gGg p.E568G TTLL4_ENST00000442769.1_Missense_Mutation_p.E568G|TTLL4_ENST00000258398.4_Missense_Mutation_p.E568G|TTLL4_ENST00000457313.1_Missense_Mutation_p.E403G NM_014640.4 NP_055455.3 Q14679 TTLL4_HUMAN tubulin tyrosine ligase-like family, member 4 568 protein polyglutamylation cilium|microtubule basal body ATP binding|tubulin binding|tubulin-tyrosine ligase activity endometrium(3)|kidney(1)|large_intestine(6)|lung(21)|ovary(3)|skin(3)|upper_aerodigestive_tract(2) 39 Renal(207;0.0915) Epithelial(149;5.03e-07)|all cancers(144;0.000106)|LUSC - Lung squamous cell carcinoma(224;0.00829)|Lung(261;0.0101) TCCAATCATGAGAAAGTTGTC 0.473000 30 94 0 0 0.750413 0 0 C4orf21 55345 broad.mit.edu 37 4 113468532 113468532 + Missense_Mutation SNP T T G TCGA-CN-6019-01A-11D-1683-08 TCGA-CN-6019-10A-01D-1683-08 Untested Somatic Phase_I WXS none Illumina GAIIx 00769a89-ffc5-46f5-a42e-25b3eae886c2 424fb678-3744-4165-b4b3-daffa0319990 g.chr4:113468532T>G ENST00000505019.1 - 24 5632 c.5507A>C c.(5506-5508)gAt>gCt p.D1836A NM_018392.4 NP_060862.3 Q86YA3 CD021_HUMAN chromosome 4 open reading frame 21 0 p.D1836V(1) breast(1)|central_nervous_system(2)|endometrium(3)|kidney(5)|large_intestine(6)|lung(21)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 45 Ovarian(17;0.156) OV - Ovarian serous cystadenocarcinoma(123;0.000676) CTGTTTGGGATCCCCAACAAG 0.358000 3 19 0 0 0.115264 0 0 EYS 346007 broad.mit.edu 37 6 66094290 66094290 + Nonsense_Mutation SNP C C A TCGA-CN-6019-01A-11D-1683-08 TCGA-CN-6019-10A-01D-1683-08 Untested Somatic Phase_I WXS none Illumina GAIIx 00769a89-ffc5-46f5-a42e-25b3eae886c2 424fb678-3744-4165-b4b3-daffa0319990 g.chr6:66094290C>A ENST00000503581.1 - 8 1825 c.1288G>T c.(1288-1290)Gga>Tga p.G430* EYS_ENST00000370616.2_Nonsense_Mutation_p.G430*|EYS_ENST00000370618.3_Nonsense_Mutation_p.G430*|EYS_ENST00000393380.2_Nonsense_Mutation_p.G430*|EYS_ENST00000370621.3_Nonsense_Mutation_p.G430*|EYS_ENST00000342421.5_Nonsense_Mutation_p.G430* NM_001142800.1 NP_001136272.1 Q5T1H1 EYS_HUMAN eyes shut homolog (Drosophila) 430 response to stimulus|visual perception extracellular region calcium ion binding breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(12)|lung(42)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(3) 69 TTGAATCTTCCAATTATATTG 0.308000 5 45 0.0215528 0.0221321 0.217242 1 0 IRF2 3660 broad.mit.edu 37 4 185310135 185310135 + Missense_Mutation SNP C C T TCGA-CN-6019-01A-11D-1683-08 TCGA-CN-6019-10A-01D-1683-08 Untested Somatic Phase_I WXS none Illumina GAIIx 00769a89-ffc5-46f5-a42e-25b3eae886c2 424fb678-3744-4165-b4b3-daffa0319990 g.chr4:185310135C>T ENST00000393593.3 - 9 1034 c.827G>A c.(826-828)gGc>gAc p.G276D NM_002199.3 NP_002190.2 P14316 IRF2_HUMAN interferon regulatory factor 2 276 blood coagulation|cell proliferation|interferon-gamma-mediated signaling pathway|negative regulation of transcription from RNA polymerase II promoter|type I interferon-mediated signaling pathway focal adhesion|nucleoplasm DNA binding|protein binding|sequence-specific DNA binding transcription factor activity p.G276D(1) cervix(1)|endometrium(2)|kidney(1)|large_intestine(4)|liver(2)|lung(3)|ovary(2)|prostate(1)|skin(3)|stomach(1)|urinary_tract(2) 22 all_lung(41;7.86e-14)|Lung NSC(41;1.87e-13)|Colorectal(36;0.00146)|Hepatocellular(41;0.00826)|Renal(120;0.00992)|Prostate(90;0.0115)|all_neural(102;0.0573)|all_hematologic(60;0.0592) all cancers(43;3.94e-27)|Epithelial(43;5.3e-24)|OV - Ovarian serous cystadenocarcinoma(60;1.06e-10)|Colorectal(24;7.98e-07)|STAD - Stomach adenocarcinoma(60;3.95e-05)|GBM - Glioblastoma multiforme(59;8.3e-05)|COAD - Colon adenocarcinoma(29;0.000106)|BRCA - Breast invasive adenocarcinoma(30;0.000311)|LUSC - Lung squamous cell carcinoma(40;0.0128)|READ - Rectum adenocarcinoma(43;0.0419) GGACGCCATGCCGGGCAGCAG 0.552000 4 156 0 0 0.150653 0 0 C11orf53 341032 broad.mit.edu 37 11 111156591 111156591 + Missense_Mutation SNP G G A TCGA-CN-6019-01A-11D-1683-08 TCGA-CN-6019-10A-01D-1683-08 Untested Somatic Phase_I WXS none Illumina GAIIx 00769a89-ffc5-46f5-a42e-25b3eae886c2 424fb678-3744-4165-b4b3-daffa0319990 g.chr11:111156591G>A ENST00000280325.4 + 4 670 c.523G>A c.(523-525)Ggg>Agg p.G175R NM_198498.1 NP_940900.1 Q8IXP5 CK053_HUMAN chromosome 11 open reading frame 53 175 endometrium(1)|large_intestine(2)|lung(3)|skin(2) 8 all_cancers(61;2.05e-09)|Melanoma(852;4.04e-05)|all_epithelial(67;6.15e-05)|all_hematologic(158;0.000826)|Acute lymphoblastic leukemia(157;0.000966)|all_neural(223;0.0332)|Medulloblastoma(222;0.0425)|Breast(348;0.147) Epithelial(105;1.7e-06)|BRCA - Breast invasive adenocarcinoma(274;3.16e-06)|all cancers(92;2.88e-05)|OV - Ovarian serous cystadenocarcinoma(223;0.0507) CCACACTCCGGGGTACCCTAC 0.622000 24 103 0 0 0.667858 0 0 USH2A 7399 broad.mit.edu 37 1 216373318 216373318 + Missense_Mutation SNP T T A TCGA-CN-6019-01A-11D-1683-08 TCGA-CN-6019-10A-01D-1683-08 Untested Somatic Phase_I WXS none Illumina GAIIx 00769a89-ffc5-46f5-a42e-25b3eae886c2 424fb678-3744-4165-b4b3-daffa0319990 g.chr1:216373318T>A ENST00000366943.2 - 17 3848 c.3462A>T c.(3460-3462)ttA>ttT p.L1154F RP5-1099E6.3_ENST00000420867.1_RNA|USH2A_ENST00000307340.3_Missense_Mutation_p.L1154F|USH2A_ENST00000366942.3_Missense_Mutation_p.L1154F O75445 USH2A_HUMAN Usher syndrome 2A (autosomal recessive, mild) 1154 Fibronectin type-III 2. maintenance of organ identity|photoreceptor cell maintenance|response to stimulus|sensory perception of sound basement membrane|cytoplasm|integral to membrane|stereocilium membrane collagen binding NS(7)|breast(20)|central_nervous_system(3)|cervix(2)|endometrium(32)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(71)|liver(2)|lung(282)|ovary(25)|pancreas(2)|prostate(12)|skin(22)|stomach(7)|upper_aerodigestive_tract(20)|urinary_tract(3) 527 OV - Ovarian serous cystadenocarcinoma(81;0.0547)|all cancers(67;0.0875) TGATATAACTTAAAGTCAAGT 0.423000 HNSCC(13;0.011) 16 95 0 0 0.539581 0 0 TNN 63923 broad.mit.edu 37 1 175046803 175046803 + Silent SNP C C T TCGA-CN-6019-01A-11D-1683-08 TCGA-CN-6019-10A-01D-1683-08 Untested Somatic Phase_I WXS none Illumina GAIIx 00769a89-ffc5-46f5-a42e-25b3eae886c2 424fb678-3744-4165-b4b3-daffa0319990 g.chr1:175046803C>T ENST00000239462.4 + 2 362 c.249C>T c.(247-249)aaC>aaT p.N83N NM_022093.1 NP_071376.1 Q9UQP3 TENN_HUMAN tenascin N 83 cell growth|cell migration|signal transduction extracellular space|proteinaceous extracellular matrix NS(1)|central_nervous_system(2)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(29)|liver(1)|lung(81)|ovary(5)|prostate(6)|skin(5)|stomach(4)|upper_aerodigestive_tract(3)|urinary_tract(3) 156 Breast(1374;0.000962) KIRC - Kidney renal clear cell carcinoma(1967;0.00198) AGGAACAGAACATCATCTTCA 0.617000 17 50 0 0 0.500413 0 0 OR6V1 346517 broad.mit.edu 37 7 142749510 142749510 + Silent SNP C C T TCGA-CN-6019-01A-11D-1683-08 TCGA-CN-6019-10A-01D-1683-08 Untested Somatic Phase_I WXS none Illumina GAIIx 00769a89-ffc5-46f5-a42e-25b3eae886c2 424fb678-3744-4165-b4b3-daffa0319990 g.chr7:142749510C>T ENST00000418316.1 + 1 94 c.73C>T c.(73-75)Ctg>Ttg p.L25L NM_001001667.1 NP_001001667.1 Q8N148 OR6V1_HUMAN olfactory receptor, family 6, subfamily V, member 1 25 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity endometrium(2)|kidney(2)|large_intestine(1)|lung(13)|ovary(1)|upper_aerodigestive_tract(1) 20 Melanoma(164;0.059) GCAGGCCCTTCTGTATGGCCC 0.512000 4 154 0 0 0.184627 0 0 TMEM205 374882 broad.mit.edu 37 19 11456289 11456289 + Missense_Mutation SNP C C T TCGA-CN-6019-01A-11D-1683-08 TCGA-CN-6019-10A-01D-1683-08 Untested Somatic Phase_I WXS none Illumina GAIIx 00769a89-ffc5-46f5-a42e-25b3eae886c2 424fb678-3744-4165-b4b3-daffa0319990 g.chr19:11456289C>T ENST00000354882.5 - 1 433 c.7G>A c.(7-9)Gaa>Aaa p.E3K TMEM205_ENST00000587948.1_Missense_Mutation_p.E3K|TMEM205_ENST00000589555.1_Missense_Mutation_p.E3K|TMEM205_ENST00000586590.1_Missense_Mutation_p.E3K|CCDC159_ENST00000587100.1_Intron|RAB3D_ENST00000589655.1_Intron|CCDC159_ENST00000588790.1_Intron|TMEM205_ENST00000593256.2_Missense_Mutation_p.E3K|TMEM205_ENST00000588560.1_Missense_Mutation_p.E3K|TMEM205_ENST00000447337.1_Missense_Mutation_p.E3K|TMEM205_ENST00000586956.1_Missense_Mutation_p.E3K|TMEM205_ENST00000586218.1_Intron Q6UW68 TM205_HUMAN transmembrane protein 205 3 integral to membrane endometrium(1)|lung(1) 2 TTCCCGCCTTCCTCCATCTTG 0.587000 3 31 0 0 0.150653 0 0 ZNF646 9726 broad.mit.edu 37 16 31087784 31087784 + Missense_Mutation SNP C C G TCGA-CN-6019-01A-11D-1683-08 TCGA-CN-6019-10A-01D-1683-08 Untested Somatic Phase_I WXS none Illumina GAIIx 00769a89-ffc5-46f5-a42e-25b3eae886c2 424fb678-3744-4165-b4b3-daffa0319990 g.chr16:31087784C>G ENST00000394979.2 + 1 562 c.139C>G c.(139-141)Ccc>Gcc p.P47A ZNF646_ENST00000300850.5_Missense_Mutation_p.P47A O15015 ZN646_HUMAN zinc finger protein 646 47 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|protein binding|zinc ion binding NS(1)|breast(4)|cervix(2)|endometrium(8)|kidney(4)|large_intestine(1)|lung(21)|ovary(1)|prostate(4)|skin(3) 49 CATCCCTCGGCCCTACCGTTG 0.632000 13 81 0 0 0.435327 0 0 NCOA3 8202 broad.mit.edu 37 20 46254145 46254145 + Missense_Mutation SNP G G A TCGA-CN-6019-01A-11D-1683-08 TCGA-CN-6019-10A-01D-1683-08 Untested Somatic Phase_I WXS none Illumina GAIIx 00769a89-ffc5-46f5-a42e-25b3eae886c2 424fb678-3744-4165-b4b3-daffa0319990 g.chr20:46254145G>A ENST00000372004.3 + 5 493 c.277G>A c.(277-279)Gat>Aat p.D93N NCOA3_ENST00000341724.6_Missense_Mutation_p.D93N|NCOA3_ENST00000371997.3_Missense_Mutation_p.D93N|NCOA3_ENST00000371998.3_Missense_Mutation_p.D93N NM_001174087.1|NM_001174088.1|NM_006534.3|NM_181659.2 NP_001167558.1|NP_001167559.1|NP_006525.2|NP_858045.1 Q9Y6Q9 NCOA3_HUMAN nuclear receptor coactivator 3 93 androgen receptor signaling pathway|cellular lipid metabolic process|positive regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent nucleoplasm androgen receptor binding|histone acetyltransferase activity|ligand-dependent nuclear receptor binding|protein N-terminus binding|signal transducer activity|thyroid hormone receptor binding breast(3)|endometrium(3)|kidney(4)|large_intestine(12)|lung(19)|ovary(4)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1) 52 TTCCAATGATGATGATGTTCA 0.368000 18 45 0 0 0.608945 0 0 GABRG1 2565 broad.mit.edu 37 4 46043265 46043265 + Missense_Mutation SNP G G T TCGA-CN-6019-01A-11D-1683-08 TCGA-CN-6019-10A-01D-1683-08 Untested Somatic Phase_I WXS none Illumina GAIIx 00769a89-ffc5-46f5-a42e-25b3eae886c2 424fb678-3744-4165-b4b3-daffa0319990 g.chr4:46043265G>T ENST00000295452.4 - 9 1305 c.1138C>A c.(1138-1140)Cct>Act p.P380T NM_173536.3 NP_775807.2 Q8N1C3 GBRG1_HUMAN gamma-aminobutyric acid (GABA) A receptor, gamma 1 380 gamma-aminobutyric acid signaling pathway cell junction|chloride channel complex|postsynaptic membrane chloride channel activity|extracellular ligand-gated ion channel activity breast(2)|central_nervous_system(5)|endometrium(3)|kidney(4)|large_intestine(11)|liver(1)|lung(37)|ovary(2)|prostate(5)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 76 Lung(65;0.106)|LUSC - Lung squamous cell carcinoma(721;0.23) TGGAGACCAGGAGTCATCTGA 0.393000 5 24 8.12818e-05 9.35231e-05 0.248553 1 0 TTN 7273 broad.mit.edu 37 2 179598558 179598558 + Silent SNP G G T TCGA-CN-6019-01A-11D-1683-08 TCGA-CN-6019-10A-01D-1683-08 Untested Somatic Phase_I WXS none Illumina GAIIx 00769a89-ffc5-46f5-a42e-25b3eae886c2 424fb678-3744-4165-b4b3-daffa0319990 g.chr2:179598558G>T ENST00000589042.1 - 53 15782 c.15558C>A c.(15556-15558)acC>acA p.T5186T TTN_ENST00000359218.5_Intron|TTN_ENST00000342175.6_Intron|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000591111.1_Silent_p.T4869T|TTN-AS1_ENST00000582847.1_RNA|TTN_ENST00000460472.2_Intron|TTN_ENST00000342992.6_Silent_p.T3942T NM_001267550.1 NP_001254479.1 Q8WZ42 TITIN_HUMAN titin 4869 Ig-like 32. ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26) 1448 OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134) CAGCTTGCAGGGTAACGGTTT 0.413000 14 72 1.3612e-06 1.65599e-06 0.479597 1 0 HIST1H1B 3009 broad.mit.edu 37 6 27834730 27834730 + Missense_Mutation SNP G G T TCGA-CN-6019-01A-11D-1683-08 TCGA-CN-6019-10A-01D-1683-08 Untested Somatic Phase_I WXS none Illumina GAIIx 00769a89-ffc5-46f5-a42e-25b3eae886c2 424fb678-3744-4165-b4b3-daffa0319990 g.chr6:27834730G>T ENST00000331442.3 - 1 629 c.578C>A c.(577-579)cCc>cAc p.P193H NM_005322.2 NP_005313.1 P16401 H15_HUMAN histone cluster 1, H1b 193 nucleosome assembly nucleosome|nucleus DNA binding p.A191_A195delAKPKA(1) endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(5)|lung(12)|prostate(2)|upper_aerodigestive_tract(2) 24 AACTGCCTTGGGCTTGGCAGG 0.572000 19 77 1.2644e-06 1.54808e-06 0.592651 1 0 KIF9 64147 broad.mit.edu 37 3 47277951 47277951 + Missense_Mutation SNP G G A TCGA-CN-6019-01A-11D-1683-08 TCGA-CN-6019-10A-01D-1683-08 Untested Somatic Phase_I WXS none Illumina GAIIx 00769a89-ffc5-46f5-a42e-25b3eae886c2 424fb678-3744-4165-b4b3-daffa0319990 g.chr3:47277951G>A ENST00000335044.2 - 18 2440 c.2083C>T c.(2083-2085)Cgc>Tgc p.R695C KIF9_ENST00000352910.4_Missense_Mutation_p.R537C|KIF9_ENST00000265529.3_Missense_Mutation_p.R695C|KIF9-AS1_ENST00000429315.3_RNA|KIF9_ENST00000444589.2_Missense_Mutation_p.R630C|KIF9_ENST00000452770.2_Missense_Mutation_p.R695C NM_001134878.1|NM_182902.3 NP_001128350.1|NP_878905.2 Q9HAQ2 KIF9_HUMAN kinesin family member 9 695 blood coagulation|microtubule-based movement cytoplasm|microtubule ATP binding|microtubule motor activity central_nervous_system(1)|endometrium(2)|large_intestine(8)|lung(15)|skin(4)|stomach(2)|upper_aerodigestive_tract(2) 34 Acute lymphoblastic leukemia(5;0.164) BRCA - Breast invasive adenocarcinoma(193;0.000284)|KIRC - Kidney renal clear cell carcinoma(197;0.00609)|Kidney(197;0.007) AGGCGGTGGCGACACTGATCC 0.592000 11 31 0 0 0.479597 0 0 GZMH 2999 broad.mit.edu 37 14 25076508 25076508 + Silent SNP A A C TCGA-CN-6019-01A-11D-1683-08 TCGA-CN-6019-10A-01D-1683-08 Untested Somatic Phase_I WXS none Illumina GAIIx 00769a89-ffc5-46f5-a42e-25b3eae886c2 424fb678-3744-4165-b4b3-daffa0319990 g.chr14:25076508A>C ENST00000216338.4 - 4 488 c.444T>G c.(442-444)ggT>ggG p.G148G RP11-104E19.1_ENST00000555300.1_RNA|RP11-104E19.1_ENST00000557736.1_RNA|GZMH_ENST00000557220.2_Intron|GZMH_ENST00000382548.4_Intron NM_033423.3 NP_219491.1 P20718 GRAH_HUMAN granzyme H (cathepsin G-like 2, protein h-CCPX) 148 Peptidase S1. apoptosis|cytolysis|proteolysis cytoplasm serine-type endopeptidase activity central_nervous_system(1)|endometrium(1)|large_intestine(1)|lung(6)|ovary(1)|prostate(1)|skin(1) 12 GBM - Glioblastoma multiforme(265;0.0267) TTGAGACATAACCCCAGCCAG 0.557000 10 65 0 0 0.693898 0 0 FBXL7 23194 broad.mit.edu 37 5 15928334 15928334 + Missense_Mutation SNP A A T TCGA-CN-6019-01A-11D-1683-08 TCGA-CN-6019-10A-01D-1683-08 Untested Somatic Phase_I WXS none Illumina GAIIx 00769a89-ffc5-46f5-a42e-25b3eae886c2 424fb678-3744-4165-b4b3-daffa0319990 g.chr5:15928334A>T ENST00000504595.1 + 3 944 c.463A>T c.(463-465)Agg>Tgg p.R155W FBXL7_ENST00000329673.7_Missense_Mutation_p.R143W|FBXL7_ENST00000510662.1_Missense_Mutation_p.R108W NM_001278317.1|NM_012304.3 NP_001265246.1|NP_036436.1 Q9UJT9 FBXL7_HUMAN F-box and leucine-rich repeat protein 7 155 F-box. ubiquitin-dependent protein catabolic process ubiquitin ligase complex protein binding|ubiquitin-protein ligase activity cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(13)|lung(33)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2) 60 GCGGCTCTGGAGGACTATCCG 0.657000 4 8 0 0 0.150653 0 0 DLGAP4 22839 broad.mit.edu 37 20 35060815 35060815 + Missense_Mutation SNP G G A rs141000110 byFrequency TCGA-CN-6019-01A-11D-1683-08 TCGA-CN-6019-10A-01D-1683-08 Untested Somatic Phase_I WXS none Illumina GAIIx 00769a89-ffc5-46f5-a42e-25b3eae886c2 424fb678-3744-4165-b4b3-daffa0319990 g.chr20:35060815G>A ENST00000373913.3 + 3 1175 c.695G>A c.(694-696)cGc>cAc p.R232H DLGAP4_ENST00000401952.2_Missense_Mutation_p.R232H|DLGAP4_ENST00000339266.5_Missense_Mutation_p.R232H|DLGAP4_ENST00000373907.2_Missense_Mutation_p.R232H Q9Y2H0 DLGP4_HUMAN discs, large (Drosophila) homolog-associated protein 4 232 cell-cell signaling membrane protein binding breast(2)|central_nervous_system(1)|cervix(1)|endometrium(2)|large_intestine(3)|lung(20)|ovary(2)|prostate(1)|skin(4)|upper_aerodigestive_tract(1) 37 Breast(12;0.0192) Myeloproliferative disorder(115;0.00878) ACACTAGGCCGCCAGGCAGAA 0.597000 9 85 0 0 0.361761 0 0 ATP9B 374868 broad.mit.edu 37 18 76873335 76873335 + Missense_Mutation SNP A A G TCGA-CN-6019-01A-11D-1683-08 TCGA-CN-6019-10A-01D-1683-08 Untested Somatic Phase_I WXS none Illumina GAIIx 00769a89-ffc5-46f5-a42e-25b3eae886c2 424fb678-3744-4165-b4b3-daffa0319990 g.chr18:76873335A>G ENST00000426216.2 + 4 556 c.539A>G c.(538-540)tAc>tGc p.Y180C ATP9B_ENST00000591464.1_Intron|ATP9B_ENST00000586722.1_Missense_Mutation_p.Y180C|ATP9B_ENST00000307671.7_Missense_Mutation_p.Y180C|ATP9B_ENST00000458297.2_Missense_Mutation_p.Y128C NM_198531.3 NP_940933.3 O43861 ATP9B_HUMAN ATPase, class II, type 9B 180 ATP biosynthetic process integral to membrane aminophospholipid transporter activity|ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|cation-transporting ATPase activity|magnesium ion binding|phospholipid-translocating ATPase activity NS(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(15)|ovary(3)|prostate(1)|skin(2)|stomach(1) 38 Esophageal squamous(42;0.018)|Melanoma(33;0.0964)|Prostate(75;0.171) OV - Ovarian serous cystadenocarcinoma(15;1.44e-07)|BRCA - Breast invasive adenocarcinoma(31;0.0405) GGCTATCTCTACACCTACTGG 0.289000 6 39 0 0 0.278610 0 0 NF1 4763 broad.mit.edu 37 17 29548868 29548868 + Splice_Site SNP G G T TCGA-CN-6019-01A-11D-1683-08 TCGA-CN-6019-10A-01D-1683-08 Untested Somatic Phase_I WXS none Illumina GAIIx 00769a89-ffc5-46f5-a42e-25b3eae886c2 424fb678-3744-4165-b4b3-daffa0319990 g.chr17:29548868G>T ENST00000358273.4 + 15 2025 c.1641_splice c.e15-1 p.A548_splice NF1_ENST00000356175.3_Splice_Site_p.A548_splice|NF1_ENST00000431387.4_Splice_Site_p.A548_splice NM_001042492.2 NP_001035957.1 P21359 NF1_HUMAN neurofibromin 1 548 actin cytoskeleton organization|adrenal gland development|artery morphogenesis|camera-type eye morphogenesis|cerebral cortex development|collagen fibril organization|forebrain astrocyte development|forebrain morphogenesis|heart development|liver development|MAPKKK cascade|metanephros development|myelination in peripheral nervous system|negative regulation of cell migration|negative regulation of endothelial cell proliferation|negative regulation of MAP kinase activity|negative regulation of MAPKKK cascade|negative regulation of neuroblast proliferation|negative regulation of oligodendrocyte differentiation|negative regulation of transcription factor import into nucleus|osteoblast differentiation|phosphatidylinositol 3-kinase cascade|pigmentation|positive regulation of adenylate cyclase activity|positive regulation of neuron apoptosis|Ras protein signal transduction|regulation of blood vessel endothelial cell migration|regulation of bone resorption|response to hypoxia|smooth muscle tissue development|spinal cord development|sympathetic nervous system development|visual learning|wound healing axon|cytoplasm|dendrite|intrinsic to internal side of plasma membrane|nucleus protein binding|Ras GTPase activator activity p.0?(8)|p.?(4) NF1/ACCN1(2) autonomic_ganglia(12)|breast(11)|central_nervous_system(72)|cervix(6)|endometrium(12)|haematopoietic_and_lymphoid_tissue(59)|kidney(9)|large_intestine(39)|liver(1)|lung(80)|ovary(20)|pancreas(2)|prostate(2)|skin(8)|soft_tissue(249)|stomach(2)|thyroid(1)|upper_aerodigestive_tract(5)|urinary_tract(9) 599 all_cancers(10;1.29e-12)|all_epithelial(10;0.00347)|all_hematologic(16;0.00556)|Acute lymphoblastic leukemia(14;0.00593)|Breast(31;0.014)|Myeloproliferative disorder(56;0.0255)|all_lung(9;0.0321)|Lung NSC(157;0.0659) UCEC - Uterine corpus endometrioid carcinoma (4;4.38e-05)|all cancers(4;1.64e-26)|Epithelial(4;9.15e-23)|OV - Ovarian serous cystadenocarcinoma(4;3.58e-21)|GBM - Glioblastoma multiforme(4;0.00146) AAAAATTCAGGCTCTGCTGGT 0.313000 """D, Mis, N, F, S, O""" """neurofibroma, glioma""" """neurofibroma, glioma""" Neurofibromatosis, type 1 TCGA GBM(6;<1E-08)|TSP Lung(7;0.0071)|TCGA Ovarian(3;0.0088) 4 40 0.00909568 0.00954547 0.150653 1 0 PHACTR3 116154 broad.mit.edu 37 20 58330263 58330263 + Missense_Mutation SNP G G A TCGA-CN-6019-01A-11D-1683-08 TCGA-CN-6019-10A-01D-1683-08 Untested Somatic Phase_I WXS none Illumina GAIIx 00769a89-ffc5-46f5-a42e-25b3eae886c2 424fb678-3744-4165-b4b3-daffa0319990 g.chr20:58330263G>A ENST00000371015.1 + 4 852 c.385G>A c.(385-387)Gat>Aat p.D129N PHACTR3_ENST00000355648.4_Missense_Mutation_p.D88N|PHACTR3_ENST00000395636.2_Missense_Mutation_p.D88N|PHACTR3_ENST00000361300.4_Missense_Mutation_p.D88N|PHACTR3_ENST00000359926.3_Missense_Mutation_p.D126N|PHACTR3_ENST00000541461.1_Missense_Mutation_p.D88N|PHACTR3_ENST00000395639.4_Missense_Mutation_p.D88N NM_080672.3 NP_542403.1 Q96KR7 PHAR3_HUMAN phosphatase and actin regulator 3 129 nuclear matrix actin binding|protein phosphatase inhibitor activity endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(13)|liver(2)|lung(32)|ovary(3)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2) 59 all_lung(29;0.00344) BRCA - Breast invasive adenocarcinoma(7;2.76e-09) TTGCAACCCCGATGGAGGACC 0.567000 9 30 0 0 0.335167 0 0 CLDN6 9074 broad.mit.edu 37 16 3065430 3065430 + Missense_Mutation SNP G G A TCGA-CN-6019-01A-11D-1683-08 TCGA-CN-6019-10A-01D-1683-08 Untested Somatic Phase_I WXS none Illumina GAIIx 00769a89-ffc5-46f5-a42e-25b3eae886c2 424fb678-3744-4165-b4b3-daffa0319990 g.chr16:3065430G>A ENST00000396925.1 - 3 1021 c.593C>T c.(592-594)gCc>gTc p.A198V CLDN6_ENST00000328796.4_Missense_Mutation_p.A198V|CLDN6_ENST00000572154.1_Intron P56747 CLD6_HUMAN claudin 6 198 calcium-independent cell-cell adhesion integral to membrane|tight junction identical protein binding|structural molecule activity kidney(1)|large_intestine(2)|lung(2)|ovary(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1) 10 TGAGTAGCGGGCCATGTAATG 0.652000 13 60 0 0 0.435327 0 0 LY9 4063 broad.mit.edu 37 1 160769743 160769743 + Missense_Mutation SNP A A T TCGA-CN-6019-01A-11D-1683-08 TCGA-CN-6019-10A-01D-1683-08 Untested Somatic Phase_I WXS none Illumina GAIIx 00769a89-ffc5-46f5-a42e-25b3eae886c2 424fb678-3744-4165-b4b3-daffa0319990 g.chr1:160769743A>T ENST00000263285.5 + 2 355 c.325A>T c.(325-327)Atc>Ttc p.I109F LY9_ENST00000471816.1_3'UTR|LY9_ENST00000368040.1_5'UTR|LY9_ENST00000341032.4_Missense_Mutation_p.I109F|LY9_ENST00000368039.2_Missense_Mutation_p.I109F|LY9_ENST00000368041.2_Missense_Mutation_p.I69F NM_001261456.1|NM_002348.3 NP_001248385.1|NP_002339.2 Q9HBG7 LY9_HUMAN lymphocyte antigen 9 109 Ig-like V-type 1. cell adhesion|immunoglobulin mediated immune response integral to membrane autonomic_ganglia(1)|breast(1)|endometrium(4)|kidney(3)|large_intestine(5)|lung(17)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2) 36 all_cancers(52;2.72e-17)|all_hematologic(112;0.093) BRCA - Breast invasive adenocarcinoma(70;0.00737) CCGACTAGACATCACCAAGTG 0.453000 21 74 0 0 0.624587 0 0 C7orf33 202865 broad.mit.edu 37 7 148288032 148288032 + Silent SNP T T G TCGA-CN-6019-01A-11D-1683-08 TCGA-CN-6019-10A-01D-1683-08 Untested Somatic Phase_I WXS none Illumina GAIIx 00769a89-ffc5-46f5-a42e-25b3eae886c2 424fb678-3744-4165-b4b3-daffa0319990 g.chr7:148288032T>G ENST00000307003.2 + 1 376 c.15T>G c.(13-15)gtT>gtG p.V5V NM_145304.2 NP_660347.1 Q8WU49 CG033_HUMAN chromosome 7 open reading frame 33 5 central_nervous_system(1)|large_intestine(4)|lung(7)|prostate(2) 14 Melanoma(164;0.15) OV - Ovarian serous cystadenocarcinoma(82;0.00291) AAGTGGAAGTTCAAAGCCTCA 0.537000 10 37 0 0 0.361761 0 0 FABP7 2173 broad.mit.edu 37 6 123101594 123101594 + Missense_Mutation SNP G G T TCGA-CN-6019-01A-11D-1683-08 TCGA-CN-6019-10A-01D-1683-08 Untested Somatic Phase_I WXS none Illumina GAIIx 00769a89-ffc5-46f5-a42e-25b3eae886c2 424fb678-3744-4165-b4b3-daffa0319990 g.chr6:123101594G>T ENST00000356535.4 + 2 268 c.232G>T c.(232-234)Gat>Tat p.D78Y FABP7_ENST00000368444.3_Missense_Mutation_p.D78Y O15540 FABP7_HUMAN fatty acid binding protein 7, brain 78 negative regulation of cell proliferation cytoplasm lipid binding|transporter activity kidney(1)|large_intestine(1)|lung(2)|stomach(1) 5 GBM - Glioblastoma multiforme(226;0.226) Alpha-Linolenic Acid(DB00132)|gamma-Homolinolenic acid(DB00154)|Icosapent(DB00159) CACTGCAGATGATAGAAACTG 0.413000 3 29 0.004672 0.00501321 0.115264 1 0 SEC16A 9919 broad.mit.edu 37 9 139345823 139345823 + Missense_Mutation SNP G G C TCGA-CN-6019-01A-11D-1683-08 TCGA-CN-6019-10A-01D-1683-08 Untested Somatic Phase_I WXS none Illumina GAIIx 00769a89-ffc5-46f5-a42e-25b3eae886c2 424fb678-3744-4165-b4b3-daffa0319990 g.chr9:139345823G>C ENST00000313050.7 - 21 6270 c.6197C>G c.(6196-6198)cCa>cGa p.P2066R SEC16A_ENST00000371706.3_Missense_Mutation_p.P1888R|SEC16A_ENST00000290037.6_Missense_Mutation_p.P1888R|SEC16A_ENST00000431893.2_Missense_Mutation_p.P1888R NM_014866.1 NP_055681.1 O15027 SC16A_HUMAN SEC16 homolog A (S. cerevisiae) 1888 Pro-rich.|Required for interaction with SEC23A. protein transport|vesicle-mediated transport endoplasmic reticulum membrane|Golgi membrane breast(1)|central_nervous_system(3)|endometrium(7)|kidney(5)|large_intestine(15)|lung(14)|ovary(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 51 Myeloproliferative disorder(178;0.0511) Epithelial(140;2.9e-06)|OV - Ovarian serous cystadenocarcinoma(145;5.88e-06) ATCCCACCCTGGGGGGGCCTC 0.632000 3 23 0 0 0.115264 0 0 FSTL5 56884 broad.mit.edu 37 4 162697070 162697070 + Missense_Mutation SNP G G T TCGA-CN-6019-01A-11D-1683-08 TCGA-CN-6019-10A-01D-1683-08 Untested Somatic Phase_I WXS none Illumina GAIIx 00769a89-ffc5-46f5-a42e-25b3eae886c2 424fb678-3744-4165-b4b3-daffa0319990 g.chr4:162697070G>T ENST00000306100.5 - 5 1002 c.566C>A c.(565-567)gCa>gAa p.A189E FSTL5_ENST00000427802.2_Missense_Mutation_p.A188E|FSTL5_ENST00000536695.1_Missense_Mutation_p.A188E|FSTL5_ENST00000379164.4_Missense_Mutation_p.A188E NM_001128427.2|NM_020116.4 NP_001121899.1|NP_064501.2 Q8N475 FSTL5_HUMAN follistatin-like 5 189 EF-hand 1. extracellular region calcium ion binding central_nervous_system(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(4)|kidney(3)|large_intestine(18)|lung(43)|ovary(4)|pancreas(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(2) 91 all_hematologic(180;0.24) COAD - Colon adenocarcinoma(41;0.179) ATTACTGTCTGCATCAAAATA 0.294000 10 50 5.50884e-06 6.65942e-06 0.411799 1 0 BCRP7 100133163 broad.mit.edu 37 22 18846025 18846025 + RNA SNP G G C rs5993363 TCGA-CN-6019-01A-11D-1683-08 TCGA-CN-6019-10A-01D-1683-08 Untested Somatic Phase_I WXS none Illumina GAIIx 00769a89-ffc5-46f5-a42e-25b3eae886c2 424fb678-3744-4165-b4b3-daffa0319990 g.chr22:18846025G>C ENST00000412938.1 + 0 3383 GACGTTGAAGGCTGCCTTCAG 0.647000 3 78 0 0 0.248553 0 0 IL20RB 53833 broad.mit.edu 37 3 136714353 136714353 + Silent SNP G G T TCGA-CN-6019-01A-11D-1683-08 TCGA-CN-6019-10A-01D-1683-08 Untested Somatic Phase_I WXS none Illumina GAIIx 00769a89-ffc5-46f5-a42e-25b3eae886c2 424fb678-3744-4165-b4b3-daffa0319990 g.chr3:136714353G>T ENST00000329582.4 + 6 1029 c.780G>T c.(778-780)ctG>ctT p.L260L IL20RB_ENST00000309741.5_3'UTR NM_144717.3 NP_653318.2 Q6UXL0 I20RB_HUMAN interleukin 20 receptor beta 260 integral to membrane receptor activity kidney(2)|large_intestine(2)|lung(7)|ovary(1)|skin(1)|upper_aerodigestive_tract(1) 14 TGGGCCGGCTGCTCCAGTACT 0.522000 11 472 3.86212e-05 4.49796e-05 0.361761 1 0 MYH2 4620 broad.mit.edu 37 17 10432731 10432731 + Missense_Mutation SNP T T A TCGA-CN-6019-01A-11D-1683-08 TCGA-CN-6019-10A-01D-1683-08 Untested Somatic Phase_I WXS none Illumina GAIIx 00769a89-ffc5-46f5-a42e-25b3eae886c2 424fb678-3744-4165-b4b3-daffa0319990 g.chr17:10432731T>A ENST00000245503.5 - 25 3569 c.3185A>T c.(3184-3186)gAg>gTg p.E1062V MYH2_ENST00000397183.2_Missense_Mutation_p.E1062V|CTC-297N7.7_ENST00000581304.1_RNA|MYH2_ENST00000532183.1_Intron|CTC-297N7.7_ENST00000399342.2_RNA|CTC-297N7.7_ENST00000587182.1_RNA NM_017534.5 NP_060004.3 Q9UKX2 MYH2_HUMAN myosin, heavy chain 2, skeletal muscle, adult 1062 muscle filament sliding muscle myosin complex|myosin filament|sarcomere actin binding|ATP binding|calmodulin binding|microfilament motor activity|structural constituent of muscle NS(1)|biliary_tract(1)|breast(9)|central_nervous_system(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(16)|lung(99)|ovary(6)|pancreas(4)|prostate(3)|skin(8)|upper_aerodigestive_tract(2)|urinary_tract(4) 176 CAAGTCACCCTCAAGTTTCCT 0.373000 8 62 0 0 0.335167 0 0 PDE11A 50940 broad.mit.edu 37 2 178936794 178936794 + Missense_Mutation SNP C C T rs149522660 byFrequency TCGA-CN-6019-01A-11D-1683-08 TCGA-CN-6019-10A-01D-1683-08 Untested Somatic Phase_I WXS none Illumina GAIIx 00769a89-ffc5-46f5-a42e-25b3eae886c2 424fb678-3744-4165-b4b3-daffa0319990 g.chr2:178936794C>T ENST00000286063.5 - 1 688 c.371G>A c.(370-372)aGt>aAt p.S124N PDE11A_ENST00000358450.4_Intron NM_016953.3 NP_058649.3 Q9HCR9 PDE11_HUMAN phosphodiesterase 11A 124 platelet activation|signal transduction cytosol 3',5'-cyclic-AMP phosphodiesterase activity|3',5'-cyclic-GMP phosphodiesterase activity|metal ion binding breast(2)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(13)|lung(28)|ovary(4)|skin(3)|upper_aerodigestive_tract(3) 58 OV - Ovarian serous cystadenocarcinoma(117;0.00121)|Epithelial(96;0.00455)|all cancers(119;0.02) GCGGGCAAAACTCTTCCTTAG 0.612000 Primary Pigmented Nodular Adrenocortical Disease, Familial 17 54 0 0 0.520397 0 0 INVS 27130 broad.mit.edu 37 9 103046750 103046750 + Missense_Mutation SNP C C T TCGA-CN-6019-01A-11D-1683-08 TCGA-CN-6019-10A-01D-1683-08 Untested Somatic Phase_I WXS none Illumina GAIIx 00769a89-ffc5-46f5-a42e-25b3eae886c2 424fb678-3744-4165-b4b3-daffa0319990 g.chr9:103046750C>T ENST00000262457.2 + 13 2118 c.1933C>T c.(1933-1935)Cct>Tct p.P645S INVS_ENST00000541287.1_Missense_Mutation_p.P549S|INVS_ENST00000262456.2_Missense_Mutation_p.P645S NM_014425.3 NP_055240.2 Q9Y283 INVS_HUMAN inversin 645 negative regulation of canonical Wnt receptor signaling pathway|Wnt receptor signaling pathway cytoplasm|membrane|microtubule|nucleus|spindle calmodulin binding breast(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(5)|ovary(4)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1) 31 Acute lymphoblastic leukemia(62;0.056) CAAGCAGCCTCCTGCTGGCAA 0.652000 9 40 0 0 0.335167 0 0 ZZZ3 26009 broad.mit.edu 37 1 78099026 78099026 + Missense_Mutation SNP C C T TCGA-CN-6019-01A-11D-1683-08 TCGA-CN-6019-10A-01D-1683-08 Untested Somatic Phase_I WXS none Illumina GAIIx 00769a89-ffc5-46f5-a42e-25b3eae886c2 424fb678-3744-4165-b4b3-daffa0319990 g.chr1:78099026C>T ENST00000370801.3 - 5 489 c.14G>A c.(13-15)cGa>cAa p.R5Q ZZZ3_ENST00000370798.1_Intron NM_015534.4 NP_056349.1 Q8IYH5 ZZZ3_HUMAN zinc finger, ZZ-type containing 3 5 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding breast(2)|endometrium(2)|kidney(2)|large_intestine(8)|lung(17)|ovary(4)|prostate(1)|stomach(1)|urinary_tract(2) 39 ACGAGTAGATCGGGAAGCAGC 0.403000 4 28 0 0 0.184627 0 0 FOXG1 2290 broad.mit.edu 37 14 29237527 29237527 + Missense_Mutation SNP A A C TCGA-CN-6019-01A-11D-1683-08 TCGA-CN-6019-10A-01D-1683-08 Untested Somatic Phase_I WXS none Illumina GAIIx 00769a89-ffc5-46f5-a42e-25b3eae886c2 424fb678-3744-4165-b4b3-daffa0319990 g.chr14:29237527A>C ENST00000382535.3 + 2 1411 c.1042A>C c.(1042-1044)Aac>Cac p.N348H FOXG1_ENST00000313071.4_Missense_Mutation_p.N348H P55316 FOXG1_HUMAN forkhead box G1 348 axon midline choice point recognition|central nervous system neuron development|dorsal/ventral pattern formation|embryo development ending in birth or egg hatching|hindbrain development|inner ear morphogenesis|negative regulation of neuron differentiation|negative regulation of transcription, DNA-dependent|nonmotile primary cilium assembly|nose development|positive regulation of cell cycle|positive regulation of neuroblast proliferation|positive regulation of transcription from RNA polymerase II promoter|regulation of mitotic cell cycle|regulation of sequence-specific DNA binding transcription factor activity|tissue development transcription factor complex DNA bending activity|double-stranded DNA binding|promoter binding|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 breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(9)|lung(23)|ovary(2)|pancreas(1)|prostate(1)|skin(1)|urinary_tract(2) 43 LUAD - Lung adenocarcinoma(48;0.011)|Lung(238;0.0575) GBM - Glioblastoma multiforme(265;0.00413) GTTGACTCAGAACTCGCTGGG 0.657000 18 117 0 0 0.575678 0 0 MYCBPAP 84073 broad.mit.edu 37 17 48602250 48602250 + Missense_Mutation SNP G G T TCGA-CN-6019-01A-11D-1683-08 TCGA-CN-6019-10A-01D-1683-08 Untested Somatic Phase_I WXS none Illumina GAIIx 00769a89-ffc5-46f5-a42e-25b3eae886c2 424fb678-3744-4165-b4b3-daffa0319990 g.chr17:48602250G>T ENST00000323776.5 + 13 1939 c.1777G>T c.(1777-1779)Gcc>Tcc p.A593S MYCBPAP_ENST00000436259.2_Missense_Mutation_p.A556S NM_032133.4 NP_115509.4 Q8TBZ2 MYBPP_HUMAN MYCBP associated protein 556 cell differentiation|multicellular organismal development|spermatogenesis|synaptic transmission cytoplasm|membrane protein binding breast(1)|endometrium(4)|kidney(1)|large_intestine(8)|lung(8)|ovary(4)|pancreas(1)|skin(2)|urinary_tract(2) 31 Breast(11;1.23e-18) BRCA - Breast invasive adenocarcinoma(22;1.23e-09) CAAGCTGACTGCCCATGAGGC 0.582000 19 80 5.03518e-11 6.41147e-11 0.557998 1 0 CPS1 1373 broad.mit.edu 37 2 211532931 211532931 + Missense_Mutation SNP A A T TCGA-CN-6019-01A-11D-1683-08 TCGA-CN-6019-10A-01D-1683-08 Untested Somatic Phase_I WXS none Illumina GAIIx 00769a89-ffc5-46f5-a42e-25b3eae886c2 424fb678-3744-4165-b4b3-daffa0319990 g.chr2:211532931A>T ENST00000233072.5 + 34 4220 c.4024A>T c.(4024-4026)Att>Ttt p.I1342F CPS1_ENST00000451903.2_Missense_Mutation_p.I891F|CPS1_ENST00000430249.2_Missense_Mutation_p.I1348F NM_001875.4 NP_001866.2 P31327 CPSM_HUMAN carbamoyl-phosphate synthase 1, mitochondrial 1342 carbamoyl phosphate biosynthetic process|citrulline biosynthetic process|glutamine metabolic process|glycogen catabolic process|nitric oxide metabolic process|positive regulation of vasodilation|response to lipopolysaccharide|triglyceride catabolic process|urea cycle mitochondrial nucleoid ATP binding|carbamoyl-phosphate synthase (ammonia) activity breast(1)|central_nervous_system(4)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(17)|lung(85)|ovary(8)|pancreas(1)|prostate(6)|skin(1)|upper_aerodigestive_tract(4)|urinary_tract(2) 142 Epithelial(149;0.00697)|Lung(261;0.0521)|LUSC - Lung squamous cell carcinoma(261;0.0544)|all cancers(144;0.0843) TGGTGAAGGTATTCATACAGC 0.378000 14 56 0 0 0.500413 0 0 ATP4A 495 broad.mit.edu 37 19 36051747 36051747 + Missense_Mutation SNP C C T rs148572774 byFrequency TCGA-CN-6019-01A-11D-1683-08 TCGA-CN-6019-10A-01D-1683-08 Untested Somatic Phase_I WXS none Illumina GAIIx 00769a89-ffc5-46f5-a42e-25b3eae886c2 424fb678-3744-4165-b4b3-daffa0319990 g.chr19:36051747C>T ENST00000262623.3 - 5 536 c.508G>A c.(508-510)Gcc>Acc p.A170T NM_000704.2 NP_000695.2 P20648 ATP4A_HUMAN ATPase, H+/K+ exchanging, alpha polypeptide 170 ATP biosynthetic process|ATP hydrolysis coupled proton transport integral to plasma membrane ATP binding|hydrogen:potassium-exchanging ATPase activity|magnesium ion binding breast(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(12)|lung(26)|ovary(2)|prostate(2)|upper_aerodigestive_tract(1) 53 all_lung(56;1.05e-07)|Lung NSC(56;1.63e-07)|Esophageal squamous(110;0.162) LUSC - Lung squamous cell carcinoma(66;0.0724) Esomeprazole(DB00736)|Lansoprazole(DB00448)|Omeprazole(DB00338)|Pantoprazole(DB00213)|Rabeprazole(DB01129)|Trifluoperazine(DB00831) TTAAAGCTGGCGATGATGTTG 0.562000 13 95 0 0 0.411799 0 0 SPOPL 339745 broad.mit.edu 37 2 139316682 139316682 + Missense_Mutation SNP G G T TCGA-CN-6019-01A-11D-1683-08 TCGA-CN-6019-10A-01D-1683-08 Untested Somatic Phase_I WXS none Illumina GAIIx 00769a89-ffc5-46f5-a42e-25b3eae886c2 424fb678-3744-4165-b4b3-daffa0319990 g.chr2:139316682G>T ENST00000280098.4 + 6 950 c.571G>T c.(571-573)Ggt>Tgt p.G191C NM_001001664.2 NP_001001664.1 Q6IQ16 SPOPL_HUMAN speckle-type POZ protein-like 191 nucleus breast(2)|cervix(2)|endometrium(2)|large_intestine(2)|lung(11)|skin(2) 21 BRCA - Breast invasive adenocarcinoma(221;0.0296) AGAAGATTTAGGTAATCTCTG 0.368000 27 100 2.48779e-11 3.18905e-11 0.693898 1 0 RELN 5649 broad.mit.edu 37 7 103207056 103207056 + Missense_Mutation SNP G G C TCGA-CN-6019-01A-11D-1683-08 TCGA-CN-6019-10A-01D-1683-08 Untested Somatic Phase_I WXS none Illumina GAIIx 00769a89-ffc5-46f5-a42e-25b3eae886c2 424fb678-3744-4165-b4b3-daffa0319990 g.chr7:103207056G>C ENST00000428762.1 - 32 4898 c.4739C>G c.(4738-4740)cCg>cGg p.P1580R RELN_ENST00000343529.5_Missense_Mutation_p.P1580R|RELN_ENST00000424685.2_Missense_Mutation_p.P1580R NM_005045.3 NP_005036.2 P78509 RELN_HUMAN reelin 1580 axon guidance|cell adhesion|cerebral cortex tangential migration|glial cell differentiation|neuron migration|peptidyl-tyrosine phosphorylation|positive regulation of protein kinase activity|positive regulation of small GTPase mediated signal transduction|response to pain|spinal cord patterning cytoplasm|dendrite|extracellular space|proteinaceous extracellular matrix metal ion binding|protein serine/threonine/tyrosine kinase activity|serine-type peptidase activity p.P1580L(1) NS(3)|breast(8)|central_nervous_system(3)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(4)|kidney(6)|large_intestine(43)|lung(101)|ovary(9)|pancreas(2)|prostate(4)|skin(14)|stomach(2)|upper_aerodigestive_tract(12)|urinary_tract(2) 227 COAD - Colon adenocarcinoma(1;8.98e-05)|Colorectal(1;0.00184) ACCATGTTGCGGTTGCCACCA 0.483000 14 43 0 0 0.457914 0 0 HSD17B4 3295 broad.mit.edu 37 5 118810155 118810155 + Translation_Start_Site SNP G G A TCGA-CN-6019-01A-11D-1683-08 TCGA-CN-6019-10A-01D-1683-08 Untested Somatic Phase_I WXS none Illumina GAIIx 00769a89-ffc5-46f5-a42e-25b3eae886c2 424fb678-3744-4165-b4b3-daffa0319990 g.chr5:118810155G>A ENST00000414835.2 + 0 291 HSD17B4_ENST00000510025.1_Splice_Site_p.D70_splice|HSD17B4_ENST00000515320.1_Splice_Site_p.D76_splice|HSD17B4_ENST00000504811.1_Splice_Site_p.D119_splice|HSD17B4_ENST00000256216.6_Splice_Site_p.D94_splice P51659 DHB4_HUMAN hydroxysteroid (17-beta) dehydrogenase 4 bile acid biosynthetic process|fatty acid beta-oxidation using acyl-CoA oxidase peroxisomal matrix 3-hydroxyacyl-CoA dehydrogenase activity|3alpha,7alpha,12alpha-trihydroxy-5beta-cholest-24-enoyl-CoA hydratase activity|estradiol 17-beta-dehydrogenase activity|isomerase activity|long-chain-enoyl-CoA hydratase activity|protein binding|sterol binding|sterol transporter activity breast(2)|cervix(2)|endometrium(3)|kidney(1)|large_intestine(3)|lung(8)|ovary(1)|pancreas(1)|prostate(2)|urinary_tract(2) 25 all_cancers(142;0.0206)|Prostate(80;0.0322) OV - Ovarian serous cystadenocarcinoma(64;0.000247)|Epithelial(69;0.000849)|all cancers(49;0.0122) NADH(DB00157) TGGAAGAATAGGTGATGTTTC 0.388000 12 82 0 0 0.479597 0 0 TTN 7273 broad.mit.edu 37 2 179640610 179640610 + Missense_Mutation SNP G G A TCGA-CN-6019-01A-11D-1683-08 TCGA-CN-6019-10A-01D-1683-08 Untested Somatic Phase_I WXS none Illumina GAIIx 00769a89-ffc5-46f5-a42e-25b3eae886c2 424fb678-3744-4165-b4b3-daffa0319990 g.chr2:179640610G>A ENST00000589042.1 - 28 6205 c.5981C>T c.(5980-5982)tCg>tTg p.S1994L TTN_ENST00000360870.5_Missense_Mutation_p.S1994L|TTN_ENST00000359218.5_Missense_Mutation_p.S1948L|TTN_ENST00000342175.6_Missense_Mutation_p.S1948L|TTN_ENST00000591111.1_Missense_Mutation_p.S1994L|TTN_ENST00000460472.2_Missense_Mutation_p.S1948L|TTN_ENST00000342992.6_Missense_Mutation_p.S1994L NM_001267550.1 NP_001254479.1 Q8WZ42 TITIN_HUMAN titin 1747 ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26) 1448 OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134) CAGCTCTTCCGACTCTTCAGG 0.438000 21 126 0 0 0.592651 0 0 FZD1 8321 broad.mit.edu 37 7 90895658 90895658 + Missense_Mutation SNP G G T TCGA-CN-6019-01A-11D-1683-08 TCGA-CN-6019-10A-01D-1683-08 Untested Somatic Phase_I WXS none Illumina GAIIx 00769a89-ffc5-46f5-a42e-25b3eae886c2 424fb678-3744-4165-b4b3-daffa0319990 g.chr7:90895658G>T ENST00000287934.2 + 1 1876 c.1463G>T c.(1462-1464)cGt>cTt p.R488L NM_003505.1 NP_003496.1 Q9UP38 FZD1_HUMAN frizzled family receptor 1 488 autocrine signaling|axonogenesis|brain development|canonical Wnt receptor signaling pathway involved in mesenchymal stem cell differentiation|canonical Wnt receptor signaling pathway involved in osteoblast differentiation|embryo development|epithelial cell differentiation|G-protein signaling, coupled to cGMP nucleotide second messenger|gonad development|lung alveolus development|negative regulation of BMP signaling pathway|negative regulation of canonical Wnt receptor signaling pathway|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of transcription, DNA-dependent|response to drug|vasculature development|Wnt receptor signaling pathway, calcium modulating pathway apical part of cell|cell surface|cytoplasm|integral to membrane|neuron projection membrane G-protein coupled receptor activity|PDZ domain binding|receptor binding|Wnt receptor activity|Wnt-protein binding breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(4)|liver(1)|lung(7)|ovary(1)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 24 all_cancers(62;3.1e-10)|all_epithelial(64;1.66e-08)|Breast(17;0.000635)|Lung NSC(181;0.153)|all_lung(186;0.154)|all_hematologic(106;0.215) STAD - Stomach adenocarcinoma(171;0.0134) GACGCGCTGCGTGGCTTCGTG 0.622000 32 165 6.00712e-18 8.08e-18 0.760397 1 0 PRSS45 377047 broad.mit.edu 37 3 46786154 46786154 + Missense_Mutation SNP G G T TCGA-CN-6019-01A-11D-1683-08 TCGA-CN-6019-10A-01D-1683-08 Untested Somatic Phase_I WXS none Illumina GAIIx 00769a89-ffc5-46f5-a42e-25b3eae886c2 424fb678-3744-4165-b4b3-daffa0319990 g.chr3:46786154G>T ENST00000442359.2 - 1 91 c.92C>A c.(91-93)aCt>aAt p.T31N PRSS50_ENST00000460241.1_Intron NM_199183.2 NP_954652.2 Q7RTY3 PRS45_HUMAN protease, serine, 45 31 Peptidase S1. proteolysis serine-type endopeptidase activity kidney(1)|large_intestine(1)|lung(2)|prostate(1) 5 GTGGGCCGCAGTCACCACCCA 0.602000 3 19 0.115264 0.116484 0.115264 1 0 RPL32P3 132241 broad.mit.edu 37 3 129116038 129116038 + RNA SNP C C T TCGA-CN-6019-01A-11D-1683-08 TCGA-CN-6019-10A-01D-1683-08 Untested Somatic Phase_I WXS none Illumina GAIIx 00769a89-ffc5-46f5-a42e-25b3eae886c2 424fb678-3744-4165-b4b3-daffa0319990 g.chr3:129116038C>T ENST00000514355.1 - 0 412 lung(1) 1 GAGGCTTTCCCGCCCAGGGAC 0.567000 4 132 0 0 0.184627 0 0 NXPE1 120400 broad.mit.edu 37 11 114393075 114393075 + Missense_Mutation SNP G G C TCGA-CN-6019-01A-11D-1683-08 TCGA-CN-6019-10A-01D-1683-08 Untested Somatic Phase_I WXS none Illumina GAIIx 00769a89-ffc5-46f5-a42e-25b3eae886c2 424fb678-3744-4165-b4b3-daffa0319990 g.chr11:114393075G>C ENST00000536271.1 - 4 1650 c.407C>G c.(406-408)cCt>cGt p.P136R NXPE1_ENST00000424269.1_Missense_Mutation_p.P420R|NXPE1_ENST00000251921.2_Missense_Mutation_p.P278R neurexophilin and PC-esterase domain family, member 1 AATTTCCCGAGGGATATAATC 0.433000 23 92 0 0 0.667858 0 0 ABCA6 23460 broad.mit.edu 37 17 67094145 67094145 + Silent SNP C C T TCGA-CN-6019-01A-11D-1683-08 TCGA-CN-6019-10A-01D-1683-08 Untested Somatic Phase_I WXS none Illumina GAIIx 00769a89-ffc5-46f5-a42e-25b3eae886c2 424fb678-3744-4165-b4b3-daffa0319990 g.chr17:67094145C>T ENST00000284425.2 - 23 3210 c.3036G>A c.(3034-3036)ggG>ggA p.G1012G ABCA6_ENST00000446604.2_5'UTR NM_080284.2 NP_525023.2 Q8N139 ABCA6_HUMAN ATP-binding cassette, sub-family A (ABC1), member 6 1012 transport integral to membrane ATP binding|ATPase activity breast(6)|endometrium(5)|kidney(17)|large_intestine(18)|lung(20)|ovary(3)|prostate(2)|skin(5)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(1) 82 Breast(10;5.65e-12) CATCCGGCAACCCAGTCCAGA 0.368000 6 27 0 0 0.217242 0 0 CD163L1 283316 broad.mit.edu 37 12 7527960 7527960 + Missense_Mutation SNP T T A TCGA-CN-6019-01A-11D-1683-08 TCGA-CN-6019-10A-01D-1683-08 Untested Somatic Phase_I WXS none Illumina GAIIx 00769a89-ffc5-46f5-a42e-25b3eae886c2 424fb678-3744-4165-b4b3-daffa0319990 g.chr12:7527960T>A ENST00000313599.3 - 11 2975 c.2918A>T c.(2917-2919)gAg>gTg p.E973V CD163L1_ENST00000416109.2_Missense_Mutation_p.E983V|CD163L1_ENST00000396630.1_Missense_Mutation_p.E973V Q9NR16 C163B_HUMAN CD163 molecule-like 1 973 SRCR 9. extracellular region|integral to membrane|plasma membrane scavenger receptor activity breast(5)|central_nervous_system(3)|endometrium(8)|kidney(3)|large_intestine(18)|lung(37)|ovary(8)|prostate(3)|skin(6)|stomach(1)|urinary_tract(4) 96 CAGAAGTGACTCATTCCCTAA 0.458000 10 45 0 0 0.335167 0 0 ZNF646 9726 broad.mit.edu 37 16 31087829 31087829 + Missense_Mutation SNP A A G TCGA-CN-6019-01A-11D-1683-08 TCGA-CN-6019-10A-01D-1683-08 Untested Somatic Phase_I WXS none Illumina GAIIx 00769a89-ffc5-46f5-a42e-25b3eae886c2 424fb678-3744-4165-b4b3-daffa0319990 g.chr16:31087829A>G ENST00000394979.2 + 1 607 c.184A>G c.(184-186)Agc>Ggc p.S62G ZNF646_ENST00000300850.5_Missense_Mutation_p.S62G O15015 ZN646_HUMAN zinc finger protein 646 62 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|protein binding|zinc ion binding NS(1)|breast(4)|cervix(2)|endometrium(8)|kidney(4)|large_intestine(1)|lung(21)|ovary(1)|prostate(4)|skin(3) 49 TCACCCCGGGAGCCTGGTTAA 0.602000 13 61 0 0 0.411799 0 0 APOB 338 broad.mit.edu 37 2 21255246 21255246 + Silent SNP C C T TCGA-CN-6019-01A-11D-1683-08 TCGA-CN-6019-10A-01D-1683-08 Untested Somatic Phase_I WXS none Illumina GAIIx 00769a89-ffc5-46f5-a42e-25b3eae886c2 424fb678-3744-4165-b4b3-daffa0319990 g.chr2:21255246C>T ENST00000233242.1 - 10 1459 c.1332G>A c.(1330-1332)gcG>gcA p.A444A APOB_ENST00000399256.4_Silent_p.A444A NM_000384.2 NP_000375.2 P04114 APOB_HUMAN apolipoprotein B 444 Vitellogenin. cholesterol homeostasis|cholesterol metabolic process|leukocyte migration|low-density lipoprotein particle clearance|low-density lipoprotein particle remodeling|platelet activation|positive regulation of cholesterol storage|positive regulation of macrophage derived foam cell differentiation|receptor-mediated endocytosis|response to virus chylomicron remnant|clathrin-coated endocytic vesicle membrane|endoplasmic reticulum lumen|endoplasmic reticulum membrane|endosome lumen|endosome membrane|intermediate-density lipoprotein particle|low-density lipoprotein particle|mature chylomicron|microsome|plasma membrane|very-low-density lipoprotein particle cholesterol transporter activity|enzyme binding|heparin binding|low-density lipoprotein particle receptor binding|phospholipid binding|protein heterodimerization activity p.A444A(1) NS(5)|autonomic_ganglia(1)|breast(6)|central_nervous_system(4)|cervix(3)|endometrium(19)|kidney(10)|large_intestine(63)|liver(5)|lung(125)|ovary(16)|pancreas(1)|prostate(5)|skin(31)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(6) 305 Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215) Atorvastatin(DB01076) CGTGGCTCAGCGCATACAAGG 0.547000 4 75 0 0 0.217242 0 0 CSMD3 114788 broad.mit.edu 37 8 114449052 114449052 + Missense_Mutation SNP G G C TCGA-CN-6019-01A-11D-1683-08 TCGA-CN-6019-10A-01D-1683-08 Untested Somatic Phase_I WXS none Illumina GAIIx 00769a89-ffc5-46f5-a42e-25b3eae886c2 424fb678-3744-4165-b4b3-daffa0319990 g.chr8:114449052G>C ENST00000297405.5 - 1 276 c.32C>G c.(31-33)gCa>gGa p.A11G CSMD3_ENST00000455883.2_Missense_Mutation_p.A11G|CSMD3_ENST00000352409.3_Missense_Mutation_p.A11G NM_198123.1 NP_937756.1 Q7Z407 CSMD3_HUMAN CUB and Sushi multiple domains 3 11 integral to membrane|plasma membrane breast(7)|central_nervous_system(6)|endometrium(44)|haematopoietic_and_lymphoid_tissue(8)|kidney(36)|large_intestine(72)|liver(5)|lung(389)|ovary(24)|prostate(6)|skin(23)|upper_aerodigestive_tract(19)|urinary_tract(7) 646 GGATTCCTTTGCTCGGCTTTC 0.517000 HNSCC(6;0.00088)|TCGA Ovarian(7;0.080) OREG0018933 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 21 79 0 0 0.592651 0 0 ZNF136 7695 broad.mit.edu 37 19 12297983 12297983 + Silent SNP C C T TCGA-CN-6019-01A-11D-1683-08 TCGA-CN-6019-10A-01D-1683-08 Untested Somatic Phase_I WXS none Illumina GAIIx 00769a89-ffc5-46f5-a42e-25b3eae886c2 424fb678-3744-4165-b4b3-daffa0319990 g.chr19:12297983C>T ENST00000343979.4 + 4 930 c.790C>T c.(790-792)Ctg>Ttg p.L264L ZNF136_ENST00000398616.2_Silent_p.L198L NM_003437.3 NP_003428.1 P52737 ZN136_HUMAN zinc finger protein 136 264 negative regulation of transcription from RNA polymerase II promoter|transcription from RNA polymerase II promoter nucleus DNA binding|protein binding|transcription corepressor activity|zinc ion binding NS(1)|biliary_tract(1)|kidney(3)|large_intestine(2)|lung(6)|ovary(1)|pancreas(1)|skin(1)|upper_aerodigestive_tract(2) 18 CTTTCATTCTCTGAGTTCATT 0.388000 24 47 0 0 0.654019 0 0 SPOPL 339745 broad.mit.edu 37 2 139316683 139316683 + Missense_Mutation SNP G G T TCGA-CN-6019-01A-11D-1683-08 TCGA-CN-6019-10A-01D-1683-08 Untested Somatic Phase_I WXS none Illumina GAIIx 00769a89-ffc5-46f5-a42e-25b3eae886c2 424fb678-3744-4165-b4b3-daffa0319990 g.chr2:139316683G>T ENST00000280098.4 + 6 951 c.572G>T c.(571-573)gGt>gTt p.G191V NM_001001664.2 NP_001001664.1 Q6IQ16 SPOPL_HUMAN speckle-type POZ protein-like 191 nucleus breast(2)|cervix(2)|endometrium(2)|large_intestine(2)|lung(11)|skin(2) 21 BRCA - Breast invasive adenocarcinoma(221;0.0296) GAAGATTTAGGTAATCTCTGG 0.368000 27 104 2.79863e-10 3.53999e-10 0.681144 1 0 NFE2L2 4780 broad.mit.edu 37 2 178098950 178098950 + Missense_Mutation SNP A A C TCGA-CN-6019-01A-11D-1683-08 TCGA-CN-6019-10A-01D-1683-08 Untested Somatic Phase_I WXS none Illumina GAIIx 00769a89-ffc5-46f5-a42e-25b3eae886c2 424fb678-3744-4165-b4b3-daffa0319990 g.chr2:178098950A>C ENST00000397062.3 - 2 649 c.95T>G c.(94-96)gTa>gGa p.V32G NFE2L2_ENST00000464747.1_Missense_Mutation_p.V16G|NFE2L2_ENST00000446151.2_Missense_Mutation_p.V16G|NFE2L2_ENST00000423513.1_Missense_Mutation_p.V16G|NFE2L2_ENST00000397063.4_Missense_Mutation_p.V16G NM_006164.4 NP_006155.2 Q16236 NF2L2_HUMAN nuclear factor, erythroid 2-like 2 32 transcription from RNA polymerase II promoter centrosome|cytosol|nucleus|plasma membrane protein dimerization activity|protein domain specific binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity p.V32G(2)|p.V32del(1) central_nervous_system(1)|cervix(4)|endometrium(14)|kidney(5)|large_intestine(4)|liver(13)|lung(71)|oesophagus(29)|skin(2)|upper_aerodigestive_tract(11)|urinary_tract(4) 158 Epithelial(96;0.00442)|OV - Ovarian serous cystadenocarcinoma(117;0.00739)|all cancers(119;0.0195)|LUSC - Lung squamous cell carcinoma(2;0.036)|Lung(16;0.0935) TTCTCGACTTACTCCAAGATC 0.368000 Mis """NSCLC, HNSCC""" HNSCC(56;0.16) 6 34 0 0 0.217242 0 0 COL1A2 1278 broad.mit.edu 37 7 94058730 94058730 + Silent SNP A A G TCGA-CN-6019-01A-11D-1683-08 TCGA-CN-6019-10A-01D-1683-08 Untested Somatic Phase_I WXS none Illumina GAIIx 00769a89-ffc5-46f5-a42e-25b3eae886c2 424fb678-3744-4165-b4b3-daffa0319990 g.chr7:94058730A>G ENST00000297268.6 + 51 4413 c.3942A>G c.(3940-3942)gtA>gtG p.V1314V NM_000089.3 NP_000080.2 P08123 CO1A2_HUMAN collagen, type I, alpha 2 1314 Fibrillar collagen NC1. axon guidance|blood vessel development|collagen fibril organization|leukocyte migration|odontogenesis|platelet activation|regulation of blood pressure|Rho protein signal transduction|skeletal system development|skin morphogenesis|transforming growth factor beta receptor signaling pathway collagen type I|extracellular space|plasma membrane extracellular matrix structural constituent|identical protein binding|platelet-derived growth factor binding|protein binding, bridging COL1A2/PLAG1(3) NS(2)|breast(2)|central_nervous_system(4)|cervix(1)|endometrium(6)|kidney(8)|large_intestine(21)|lung(51)|ovary(2)|prostate(1)|skin(7)|stomach(1)|upper_aerodigestive_tract(8)|urinary_tract(1) 115 all_cancers(62;2.46e-09)|all_epithelial(64;2.7e-08) STAD - Stomach adenocarcinoma(171;0.0031) Collagenase(DB00048) CTGTTCTTGTAGATGGCTGCT 0.478000 HNSCC(75;0.22) 7 59 0 0 0.248553 0 0 NEK5 341676 broad.mit.edu 37 13 52682493 52682493 + Missense_Mutation SNP G G T TCGA-CN-6019-01A-11D-1683-08 TCGA-CN-6019-10A-01D-1683-08 Untested Somatic Phase_I WXS none Illumina GAIIx 00769a89-ffc5-46f5-a42e-25b3eae886c2 424fb678-3744-4165-b4b3-daffa0319990 g.chr13:52682493G>T ENST00000355568.4 - 8 654 c.515C>A c.(514-516)tCc>tAc p.S172Y NM_199289.1 NP_954983.1 Q6P3R8 NEK5_HUMAN NIMA-related kinase 5 172 Protein kinase. ATP binding|metal ion binding|protein serine/threonine kinase activity breast(5)|central_nervous_system(1)|cervix(2)|endometrium(2)|kidney(2)|large_intestine(8)|lung(11)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2) 39 Breast(56;0.00173)|Lung NSC(96;0.0168)|Prostate(109;0.0412)|Hepatocellular(98;0.152)|Glioma(44;0.236) GBM - Glioblastoma multiforme(99;3.7e-08) GATCTCTGGGGACAGGTAGTA 0.338000 24 53 1.5548e-18 2.10615e-18 0.693898 1 0 TOPBP1 11073 broad.mit.edu 37 3 133372361 133372361 + Silent SNP C C T TCGA-CN-6019-01A-11D-1683-08 TCGA-CN-6019-10A-01D-1683-08 Untested Somatic Phase_I WXS none Illumina GAIIx 00769a89-ffc5-46f5-a42e-25b3eae886c2 424fb678-3744-4165-b4b3-daffa0319990 g.chr3:133372361C>T ENST00000260810.5 - 7 881 c.750G>A c.(748-750)aaG>aaA p.K250K TOPBP1_ENST00000511439.1_5'UTR NM_007027.3 NP_008958.2 Q92547 TOPB1_HUMAN topoisomerase (DNA) II binding protein 1 250 BRCT 2. DNA repair|response to ionizing radiation microtubule organizing center|PML body|spindle pole DNA binding|protein C-terminus binding breast(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(5)|lung(14)|ovary(2)|pancreas(1)|skin(3)|upper_aerodigestive_tract(1) 40 CACACTCATACTTCTGACCTG 0.348000 Other conserved DNA damage response genes 7 27 0 0 0.278610 0 0 FGA 2243 broad.mit.edu 37 4 155505421 155505421 + Missense_Mutation SNP C C G TCGA-CN-6019-01A-11D-1683-08 TCGA-CN-6019-10A-01D-1683-08 Untested Somatic Phase_I WXS none Illumina GAIIx 00769a89-ffc5-46f5-a42e-25b3eae886c2 424fb678-3744-4165-b4b3-daffa0319990 g.chr4:155505421C>G ENST00000302053.3 - 6 2534 c.2456G>C c.(2455-2457)gGa>gCa p.G819A NM_000508.3 NP_000499.1 P02671 FIBA_HUMAN fibrinogen alpha chain 819 Fibrinogen C-terminal. platelet activation|platelet degranulation|protein polymerization|response to calcium ion|signal transduction external side of plasma membrane|fibrinogen complex|platelet alpha granule lumen eukaryotic cell surface binding|protein binding, bridging|receptor binding NS(1)|breast(5)|central_nervous_system(2)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(14)|liver(2)|lung(20)|ovary(3)|pancreas(1)|prostate(8)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(6) 73 all_hematologic(180;0.215) Renal(120;0.0458) Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Sucralfate(DB00364)|Tenecteplase(DB00031) GTAGTAGATTCCATTGAGATT 0.493000 26 85 0 0 0.681144 0 0 KCNIP4 80333 broad.mit.edu 37 4 20852192 20852192 + Nonsense_Mutation SNP G G A TCGA-CN-6019-01A-11D-1683-08 TCGA-CN-6019-10A-01D-1683-08 Untested Somatic Phase_I WXS none Illumina GAIIx 00769a89-ffc5-46f5-a42e-25b3eae886c2 424fb678-3744-4165-b4b3-daffa0319990 g.chr4:20852192G>A ENST00000382148.3 - 2 523 c.187C>T c.(187-189)Cag>Tag p.Q63* KCNIP4_ENST00000382152.2_Nonsense_Mutation_p.Q88*|KCNIP4_ENST00000382150.4_Nonsense_Mutation_p.Q67*|KCNIP4_ENST00000382149.4_5'UTR|KCNIP4_ENST00000359001.5_Nonsense_Mutation_p.Q26*|KCNIP4_ENST00000509207.1_Nonsense_Mutation_p.Q26*|KCNIP4_ENST00000447367.2_Nonsense_Mutation_p.Q54* NM_001035003.1 NP_001030175.1 Q6PIL6 KCIP4_HUMAN Kv channel interacting protein 4 88 EF-hand 1; degenerate. plasma membrane calcium ion binding|potassium channel activity|protein binding|voltage-gated ion channel activity NS(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(6)|prostate(1)|upper_aerodigestive_tract(1) 13 Breast(46;0.134) TAAAGGATCTGAAGCTCTTTC 0.458000 16 79 0 0 0.520397 0 0 ZIC4 84107 broad.mit.edu 37 3 147113980 147113980 + Missense_Mutation SNP A A T TCGA-CN-6019-01A-11D-1683-08 TCGA-CN-6019-10A-01D-1683-08 Untested Somatic Phase_I WXS none Illumina GAIIx 00769a89-ffc5-46f5-a42e-25b3eae886c2 424fb678-3744-4165-b4b3-daffa0319990 g.chr3:147113980A>T ENST00000383075.3 - 3 859 c.347T>A c.(346-348)tTc>tAc p.F116Y ZIC4_ENST00000525172.2_Missense_Mutation_p.F166Y|ZIC4_ENST00000425731.3_Missense_Mutation_p.F154Y|ZIC4_ENST00000484399.1_Missense_Mutation_p.F116Y|ZIC4_ENST00000491672.1_Intron|ZIC4_ENST00000473123.1_Missense_Mutation_p.F116Y NM_032153.5 NP_115529.2 Q8N9L1 ZIC4_HUMAN Zic family member 4 116 nucleus DNA binding|zinc ion binding breast(2)|central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(9)|lung(34)|upper_aerodigestive_tract(4) 57 GTAGCGGAAGAAAGCGCCAGG 0.677000 8 72 0 0 0.307466 0 0 CELSR2 1952 broad.mit.edu 37 1 109812137 109812137 + Missense_Mutation SNP G G T TCGA-CN-6019-01A-11D-1683-08 TCGA-CN-6019-10A-01D-1683-08 Untested Somatic Phase_I WXS none Illumina GAIIx 00769a89-ffc5-46f5-a42e-25b3eae886c2 424fb678-3744-4165-b4b3-daffa0319990 g.chr1:109812137G>T ENST00000271332.3 + 21 6965 c.6904G>T c.(6904-6906)Gtc>Ttc p.V2302F NM_001408.2 NP_001399.1 Q9HCU4 CELR2_HUMAN cadherin, EGF LAG seven-pass G-type receptor 2 2302 dendrite morphogenesis|homophilic cell adhesion|neural plate anterior/posterior regionalization|neuropeptide signaling pathway|regulation of cell-cell adhesion|regulation of transcription, DNA-dependent|Wnt receptor signaling pathway cytoplasm|integral to membrane|plasma membrane calcium ion binding|G-protein coupled receptor activity|protein binding NS(1)|autonomic_ganglia(1)|breast(3)|central_nervous_system(1)|cervix(3)|endometrium(16)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(14)|lung(27)|ovary(5)|prostate(1)|skin(3)|urinary_tract(2) 82 all_epithelial(167;0.000114)|all_lung(203;0.000321)|Lung NSC(277;0.000626)|Breast(1374;0.244) Colorectal(144;0.0296)|Lung(183;0.067)|COAD - Colon adenocarcinoma(174;0.114)|Epithelial(280;0.193)|all cancers(265;0.219) GGACAAACCCGTCACGGTGCA 0.607000 8 32 0.000157383 0.00017893 0.278610 1 0 EPHA6 285220 broad.mit.edu 37 3 96533606 96533606 + Missense_Mutation SNP G G T TCGA-CN-6019-01A-11D-1683-08 TCGA-CN-6019-10A-01D-1683-08 Untested Somatic Phase_I WXS none Illumina GAIIx 00769a89-ffc5-46f5-a42e-25b3eae886c2 424fb678-3744-4165-b4b3-daffa0319990 g.chr3:96533606G>T ENST00000389672.5 + 1 177 c.139G>T c.(139-141)Ggg>Tgg p.G47W EPHA6_ENST00000470610.2_Missense_Mutation_p.G47W NM_001080448.2 NP_001073917.2 Q9UF33 EPHA6_HUMAN EPH receptor A6 0 Ephrin-binding. integral to plasma membrane ATP binding|ephrin receptor activity NS(1)|breast(1)|central_nervous_system(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(6)|liver(2)|lung(60)|ovary(3)|skin(11)|stomach(5)|upper_aerodigestive_tract(2) 101 GGGGCGCCCCGGGACACCCCC 0.711000 5 26 1.23904e-05 1.4791e-05 0.184627 1 0 PLEKHG1 57480 broad.mit.edu 37 6 151152187 151152187 + Missense_Mutation SNP G G C TCGA-CN-6019-01A-11D-1683-08 TCGA-CN-6019-10A-01D-1683-08 Untested Somatic Phase_I WXS none Illumina GAIIx 00769a89-ffc5-46f5-a42e-25b3eae886c2 424fb678-3744-4165-b4b3-daffa0319990 g.chr6:151152187G>C ENST00000367328.1 + 16 2252 c.1940G>C c.(1939-1941)gGg>gCg p.G647A PLEKHG1_ENST00000358517.2_Missense_Mutation_p.G647A NM_001029884.1 NP_001025055.1 Q9ULL1 PKHG1_HUMAN pleckstrin homology domain containing, family G (with RhoGef domain) member 1 647 regulation of Rho protein signal transduction intracellular Rho guanyl-nucleotide exchange factor activity breast(3)|central_nervous_system(1)|endometrium(5)|kidney(2)|large_intestine(10)|lung(19)|ovary(5)|prostate(4)|stomach(1)|urinary_tract(3) 53 BRCA - Breast invasive adenocarcinoma(37;0.0923) OV - Ovarian serous cystadenocarcinoma(155;6.69e-13) ACTCCCTTTGGGTCATCCATA 0.448000 7 34 0 0 0.248553 0 0 SYNE1 23345 broad.mit.edu 37 6 152501328 152501328 + Missense_Mutation SNP G G T TCGA-CN-6019-01A-11D-1683-08 TCGA-CN-6019-10A-01D-1683-08 Untested Somatic Phase_I WXS none Illumina GAIIx 00769a89-ffc5-46f5-a42e-25b3eae886c2 424fb678-3744-4165-b4b3-daffa0319990 g.chr6:152501328G>T ENST00000367255.5 - 129 24004 c.23403C>A c.(23401-23403)agC>agA p.S7801R SYNE1_ENST00000341594.5_Missense_Mutation_p.S7413R|SYNE1_ENST00000448038.1_Missense_Mutation_p.S7730R|SYNE1_ENST00000356820.4_Missense_Mutation_p.S2325R|SYNE1_ENST00000423061.1_Missense_Mutation_p.S7730R|SYNE1_ENST00000265368.4_Missense_Mutation_p.S7801R NM_182961.3 NP_892006.3 Q8NF91 SYNE1_HUMAN spectrin repeat containing, nuclear envelope 1 7801 cell death|cytoskeletal anchoring at nuclear membrane|Golgi organization|muscle cell differentiation|nuclear matrix anchoring at nuclear membrane cytoskeleton|Golgi apparatus|integral to membrane|nuclear outer membrane|postsynaptic membrane|sarcomere|SUN-KASH complex actin binding|lamin binding NS(3)|biliary_tract(1)|breast(17)|central_nervous_system(21)|cervix(3)|endometrium(27)|haematopoietic_and_lymphoid_tissue(4)|kidney(16)|large_intestine(138)|liver(1)|lung(190)|ovary(11)|pancreas(5)|prostate(12)|skin(20)|stomach(3)|upper_aerodigestive_tract(33)|urinary_tract(19) 524 Ovarian(120;0.0955) BRCA - Breast invasive adenocarcinoma(37;0.243) OV - Ovarian serous cystadenocarcinoma(155;2.24e-10) GAGAAACTTTGCTTTCCATTT 0.403000 HNSCC(10;0.0054) 18 75 1.99824e-07 2.46234e-07 0.520397 1 0 EPB41L2 2037 broad.mit.edu 37 6 131191188 131191188 + Missense_Mutation SNP C C T TCGA-CN-6019-01A-11D-1683-08 TCGA-CN-6019-10A-01D-1683-08 Untested Somatic Phase_I WXS none Illumina GAIIx 00769a89-ffc5-46f5-a42e-25b3eae886c2 424fb678-3744-4165-b4b3-daffa0319990 g.chr6:131191188C>T ENST00000337057.3 - 15 2303 c.2122G>A c.(2122-2124)Gaa>Aaa p.E708K EPB41L2_ENST00000445890.2_Intron|EPB41L2_ENST00000527659.1_Missense_Mutation_p.E638K|EPB41L2_ENST00000527411.1_Missense_Mutation_p.E638K|EPB41L2_ENST00000368128.2_Missense_Mutation_p.E708K|EPB41L2_ENST00000392427.3_Intron|EPB41L2_ENST00000531410.1_Intron|EPB41L2_ENST00000530757.1_Intron|EPB41L2_ENST00000525271.1_Intron|EPB41L2_ENST00000530481.1_Missense_Mutation_p.E638K|EPB41L2_ENST00000525193.1_Intron|EPB41L2_ENST00000524581.1_Missense_Mutation_p.E86K|EPB41L2_ENST00000529208.1_Missense_Mutation_p.E638K|EPB41L2_ENST00000528282.1_Intron NM_001431.3 NP_001422.1 O43491 E41L2_HUMAN erythrocyte membrane protein band 4.1-like 2 708 cortical actin cytoskeleton organization extrinsic to membrane|plasma membrane|spectrin actin binding|structural molecule activity autonomic_ganglia(1)|central_nervous_system(1)|endometrium(7)|kidney(2)|large_intestine(7)|lung(23)|prostate(1)|skin(2) 44 Breast(56;0.0639) OV - Ovarian serous cystadenocarcinoma(155;0.0271)|GBM - Glioblastoma multiforme(226;0.0355) CCATTCATTTCTTCTGTGATT 0.458000 5 64 0 0 0.248553 0 0 MACROD2 140733 broad.mit.edu 37 20 15210612 15210612 + Missense_Mutation SNP G G T TCGA-CN-6019-01A-11D-1683-08 TCGA-CN-6019-10A-01D-1683-08 Untested Somatic Phase_I WXS none Illumina GAIIx 00769a89-ffc5-46f5-a42e-25b3eae886c2 424fb678-3744-4165-b4b3-daffa0319990 g.chr20:15210612G>T ENST00000217246.4 + 6 840 c.445G>T c.(445-447)Gcc>Tcc p.A149S MACROD2_ENST00000310348.4_Missense_Mutation_p.A149S|MACROD2_ENST00000402914.1_5'UTR NM_080676.5 NP_542407.2 A1Z1Q3 MACD2_HUMAN MACRO domain containing 2 149 Macro. breast(2)|kidney(4)|large_intestine(5)|lung(8)|skin(1) 20 all_neural(2;0.0381)|Acute lymphoblastic leukemia(2;0.175) AGGGCCAATAGCCAGGGGCCA 0.358000 5 31 2.7689e-08 3.4566e-08 0.248553 1 0 LATS2 26524 broad.mit.edu 37 13 21562740 21562740 + Silent SNP G G A TCGA-CN-6019-01A-11D-1683-08 TCGA-CN-6019-10A-01D-1683-08 Untested Somatic Phase_I WXS none Illumina GAIIx 00769a89-ffc5-46f5-a42e-25b3eae886c2 424fb678-3744-4165-b4b3-daffa0319990 g.chr13:21562740G>A ENST00000382592.4 - 4 1584 c.1179C>T c.(1177-1179)caC>caT p.H393H LATS2_ENST00000542899.1_Silent_p.H393H NM_014572.2 NP_055387.2 Q9NRM7 LATS2_HUMAN large tumor suppressor kinase 2 393 cell division|G1/S transition of mitotic cell cycle|hippo signaling cascade|hormone-mediated signaling pathway|intracellular protein kinase cascade|mitosis|negative regulation of canonical Wnt receptor signaling pathway|negative regulation of cyclin-dependent protein kinase activity microtubule organizing center|nucleus|spindle pole ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity breast(4)|central_nervous_system(3)|endometrium(2)|kidney(2)|large_intestine(7)|lung(19)|ovary(3)|pancreas(1)|prostate(2)|urinary_tract(2) 45 all_cancers(29;4.74e-22)|all_epithelial(30;1.45e-18)|all_lung(29;4.69e-16)|Lung SC(185;0.0262)|Hepatocellular(188;0.244) all cancers(112;0.000781)|Epithelial(112;0.00144)|OV - Ovarian serous cystadenocarcinoma(117;0.0183)|Lung(94;0.0375)|LUSC - Lung squamous cell carcinoma(192;0.104) GGAAGGCCACGTGCGCGCGCG 0.736000 3 7 0 0 0.217242 0 0 FERMT2 10979 broad.mit.edu 37 14 53345312 53345312 + Silent SNP A A G TCGA-CN-6019-01A-11D-1683-08 TCGA-CN-6019-10A-01D-1683-08 Untested Somatic Phase_I WXS none Illumina GAIIx 00769a89-ffc5-46f5-a42e-25b3eae886c2 424fb678-3744-4165-b4b3-daffa0319990 g.chr14:53345312A>G ENST00000395631.2 - 7 1167 c.951T>C c.(949-951)ttT>ttC p.F317F FERMT2_ENST00000399304.3_Silent_p.F317F|FERMT2_ENST00000553373.1_Silent_p.F317F|FERMT2_ENST00000343279.4_Silent_p.F317F|FERMT2_ENST00000341590.3_Silent_p.F317F Q96AC1 FERM2_HUMAN fermitin family member 2 317 FERM. actin cytoskeleton organization|cell adhesion|cell junction assembly|regulation of cell shape cell cortex|cytosol|focal adhesion|stress fiber binding ERO1L/FERMT2(2) NS(1)|endometrium(4)|kidney(3)|large_intestine(4)|lung(4)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1) 20 Breast(41;0.0342) GCAGGGCTGCAAACATCATCA 0.413000 26 80 0 0 0.717897 0 0 RFTN1 23180 broad.mit.edu 37 3 16475413 16475413 + Missense_Mutation SNP C C T TCGA-CN-6019-01A-11D-1683-08 TCGA-CN-6019-10A-01D-1683-08 Untested Somatic Phase_I WXS none Illumina GAIIx 00769a89-ffc5-46f5-a42e-25b3eae886c2 424fb678-3744-4165-b4b3-daffa0319990 g.chr3:16475413C>T ENST00000334133.4 - 3 549 c.277G>A c.(277-279)Gag>Aag p.E93K RFTN1_ENST00000432519.1_Missense_Mutation_p.E57K NM_015150.1 NP_055965.1 Q14699 RFTN1_HUMAN raftlin, lipid raft linker 1 93 plasma membrane central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(5)|kidney(3)|large_intestine(8)|lung(8)|ovary(4)|prostate(2)|skin(1)|upper_aerodigestive_tract(2) 38 GGCGTCTTCTCCCGCTCATGG 0.632000 23 86 0 0 0.654019 0 0 SPG11 80208 broad.mit.edu 37 15 44900683 44900683 + Missense_Mutation SNP T T C TCGA-CN-6019-01A-11D-1683-08 TCGA-CN-6019-10A-01D-1683-08 Untested Somatic Phase_I WXS none Illumina GAIIx 00769a89-ffc5-46f5-a42e-25b3eae886c2 424fb678-3744-4165-b4b3-daffa0319990 g.chr15:44900683T>C ENST00000261866.7 - 19 3428 c.3412A>G c.(3412-3414)Agt>Ggt p.S1138G SPG11_ENST00000558319.1_Missense_Mutation_p.S1138G|SPG11_ENST00000427534.2_Missense_Mutation_p.S1138G|SPG11_ENST00000535302.2_Missense_Mutation_p.S1138G NM_025137.3 NP_079413.3 Q96JI7 SPTCS_HUMAN spastic paraplegia 11 (autosomal recessive) 1138 cell death cytosol|integral to membrane|nucleus protein binding autonomic_ganglia(1)|breast(5)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(4)|large_intestine(16)|lung(24)|ovary(5)|prostate(3)|skin(3)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(2) 72 all_cancers(109;1.29e-14)|all_epithelial(112;1.26e-12)|Lung NSC(122;1.34e-07)|all_lung(180;1.21e-06)|Melanoma(134;0.0122) all cancers(107;2.93e-22)|GBM - Glioblastoma multiforme(94;1.55e-06)|COAD - Colon adenocarcinoma(120;0.0432)|Colorectal(105;0.0484)|Lung(196;0.104)|LUSC - Lung squamous cell carcinoma(244;0.214) GGCAGGACACTAGGAGGAGTG 0.423000 12 54 0 0 0.457914 0 0 TEKT5 146279 broad.mit.edu 37 16 10788235 10788235 + Missense_Mutation SNP T T C TCGA-CN-6019-01A-11D-1683-08 TCGA-CN-6019-10A-01D-1683-08 Untested Somatic Phase_I WXS none Illumina GAIIx 00769a89-ffc5-46f5-a42e-25b3eae886c2 424fb678-3744-4165-b4b3-daffa0319990 g.chr16:10788235T>C ENST00000283025.2 - 1 567 c.496A>G c.(496-498)Aac>Gac p.N166D NM_144674.1 NP_653275.1 Q96M29 TEKT5_HUMAN tektin 5 166 microtubule cytoskeleton organization cilium axoneme|flagellar axoneme|microtubule breast(2)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(9)|lung(9)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(4) 34 AAGTTCTGGTTCTCAGTCAGA 0.607000 49 249 0 0 0.870114 0 0 ZIC4 84107 broad.mit.edu 37 3 147109007 147109007 + Missense_Mutation SNP C C T TCGA-CN-6019-01A-11D-1683-08 TCGA-CN-6019-10A-01D-1683-08 Untested Somatic Phase_I WXS none Illumina GAIIx 00769a89-ffc5-46f5-a42e-25b3eae886c2 424fb678-3744-4165-b4b3-daffa0319990 g.chr3:147109007C>T ENST00000383075.3 - 4 1227 c.715G>A c.(715-717)Gag>Aag p.E239K ZIC4_ENST00000525172.2_Missense_Mutation_p.E289K|ZIC4_ENST00000472749.2_5'UTR|ZIC4_ENST00000425731.3_Missense_Mutation_p.E277K|ZIC4_ENST00000484399.1_Missense_Mutation_p.E239K|ZIC4_ENST00000491672.1_Missense_Mutation_p.E33K|ZIC4_ENST00000473123.1_Missense_Mutation_p.E239K NM_032153.5 NP_115529.2 Q8N9L1 ZIC4_HUMAN Zic family member 4 239 nucleus DNA binding|zinc ion binding breast(2)|central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(9)|lung(34)|upper_aerodigestive_tract(4) 57 TCGCAGCCCTCGAACTCGCAT 0.617000 6 38 0 0 0.217242 0 0 PRDM5 11107 broad.mit.edu 37 4 121742406 121742406 + Missense_Mutation SNP T T A TCGA-CN-6019-01A-11D-1683-08 TCGA-CN-6019-10A-01D-1683-08 Untested Somatic Phase_I WXS none Illumina GAIIx 00769a89-ffc5-46f5-a42e-25b3eae886c2 424fb678-3744-4165-b4b3-daffa0319990 g.chr4:121742406T>A ENST00000264808.3 - 4 635 c.395A>T c.(394-396)gAg>gTg p.E132V PRDM5_ENST00000428209.2_Missense_Mutation_p.E132V|PRDM5_ENST00000515109.1_Missense_Mutation_p.E132V NM_018699.2 NP_061169.2 Q9NQX1 PRDM5_HUMAN PR domain containing 5 132 histone deacetylation|histone H3-K9 methylation|mitotic cell cycle|negative regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus repressing transcription factor binding|sequence-specific DNA binding|transcription regulatory region DNA binding|zinc ion binding central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(5)|lung(17)|pancreas(1)|prostate(1)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 34 CTGTTCTTCCTCCTCAGCCTC 0.403000 28 94 0 0 0.717897 0 0 C2CD2 25966 broad.mit.edu 37 21 43332500 43332500 + Missense_Mutation SNP C C A TCGA-CN-6019-01A-11D-1683-08 TCGA-CN-6019-10A-01D-1683-08 Untested Somatic Phase_I WXS none Illumina GAIIx 00769a89-ffc5-46f5-a42e-25b3eae886c2 424fb678-3744-4165-b4b3-daffa0319990 g.chr21:43332500C>A ENST00000380486.3 - 7 1135 c.894G>T c.(892-894)agG>agT p.R298S C2CD2_ENST00000329623.7_Missense_Mutation_p.R143S NM_015500.1 NP_056315.1 Q9Y426 CU025_HUMAN C2 calcium-dependent domain containing 2 298 C2. cytosol|extracellular region|nucleus endometrium(2)|kidney(1)|large_intestine(4)|lung(3)|ovary(3)|prostate(1)|stomach(1) 15 TGCTGGAGAACCTCTGAACAG 0.488000 4 18 0.00909568 0.00954547 0.150653 1 0 ZNF254 9534 broad.mit.edu 37 19 24309534 24309534 + Missense_Mutation SNP C C A TCGA-CN-6019-01A-11D-1683-08 TCGA-CN-6019-10A-01D-1683-08 Untested Somatic Phase_I WXS none Illumina GAIIx 00769a89-ffc5-46f5-a42e-25b3eae886c2 424fb678-3744-4165-b4b3-daffa0319990 g.chr19:24309534C>A ENST00000357002.4 + 4 847 c.732C>A c.(730-732)aaC>aaA p.N244K ZNF254_ENST00000342944.6_Missense_Mutation_p.N159K NM_001278661.1|NM_001278662.1|NM_001278664.1|NM_001278677.1|NM_001278678.1|NM_203282.2 NP_001265590.1|NP_001265591.1|NP_001265593.1|NP_001265606.1|NP_001265607.1|NP_975011.3 O75437 ZN254_HUMAN zinc finger protein 254 244 negative regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent nucleus DNA binding|zinc ion binding all_cancers(12;0.086)|all_lung(12;0.00528)|Lung NSC(12;0.00731)|all_epithelial(12;0.0186) AAGAATATAACAAATCTCCTA 0.328000 6 34 0.0215528 0.0221321 0.217242 1 0 ABHD11 83451 broad.mit.edu 37 7 73151996 73151996 + Missense_Mutation SNP T T A TCGA-CN-6019-01A-11D-1683-08 TCGA-CN-6019-10A-01D-1683-08 Untested Somatic Phase_I WXS none Illumina GAIIx 00769a89-ffc5-46f5-a42e-25b3eae886c2 424fb678-3744-4165-b4b3-daffa0319990 g.chr7:73151996T>A ENST00000222800.3 - 3 427 c.358A>T c.(358-360)Agc>Tgc p.S120C ABHD11_ENST00000458339.1_Missense_Mutation_p.S120C|ABHD11_ENST00000395147.4_Missense_Mutation_p.S120C|ABHD11_ENST00000437775.2_Missense_Mutation_p.S113C NM_148912.2 NP_683710.1 Q8NFV4 ABHDB_HUMAN abhydrolase domain containing 11 120 hydrolase activity breast(1)|endometrium(1)|large_intestine(1)|lung(1) 4 Lung NSC(55;0.0908)|all_lung(88;0.198) AGGTCCTGGCTCATGATCTCG 0.637000 4 31 0 0 0.150653 0 0 ANO2 57101 broad.mit.edu 37 12 5908715 5908715 + Missense_Mutation SNP C C T TCGA-CN-6019-01A-11D-1683-08 TCGA-CN-6019-10A-01D-1683-08 Untested Somatic Phase_I WXS none Illumina GAIIx 00769a89-ffc5-46f5-a42e-25b3eae886c2 424fb678-3744-4165-b4b3-daffa0319990 g.chr12:5908715C>T ENST00000546188.1 - 10 1075 c.1004G>A c.(1003-1005)cGc>cAc p.R335H ANO2_ENST00000356134.5_Missense_Mutation_p.R335H|ANO2_ENST00000327087.8_Missense_Mutation_p.R334H Q9NQ90 ANO2_HUMAN anoctamin 2 339 chloride channel complex|plasma membrane intracellular calcium activated chloride channel activity p.R335H(1) central_nervous_system(2)|endometrium(5)|kidney(2)|large_intestine(11)|lung(23)|ovary(4)|pancreas(1)|prostate(1)|skin(5)|stomach(3)|upper_aerodigestive_tract(1) 58 CACTCCATAGCGCGCCCATTC 0.418000 4 32 0 0 0.184627 0 0 EYA4 2070 broad.mit.edu 37 6 133783834 133783834 + Missense_Mutation SNP G G T TCGA-CN-6019-01A-11D-1683-08 TCGA-CN-6019-10A-01D-1683-08 Untested Somatic Phase_I WXS none Illumina GAIIx 00769a89-ffc5-46f5-a42e-25b3eae886c2 424fb678-3744-4165-b4b3-daffa0319990 g.chr6:133783834G>T ENST00000367895.5 + 9 1120 c.656G>T c.(655-657)tGc>tTc p.C219F EYA4_ENST00000430974.2_Missense_Mutation_p.C165F|EYA4_ENST00000531901.1_Missense_Mutation_p.C219F|EYA4_ENST00000355286.6_Missense_Mutation_p.C196F|EYA4_ENST00000525849.1_Missense_Mutation_p.C196F|EYA4_ENST00000355167.3_Missense_Mutation_p.C219F|EYA4_ENST00000452339.2_Missense_Mutation_p.C165F|EYA4_ENST00000431403.2_Missense_Mutation_p.C219F NM_004100.4 NP_004091.3 O95677 EYA4_HUMAN eyes absent homolog 4 (Drosophila) 219 anatomical structure morphogenesis|chromatin modification|DNA repair|multicellular organismal development|regulation of transcription, DNA-dependent|transcription, DNA-dependent|visual perception cytoplasm|nucleus metal ion binding|protein tyrosine phosphatase activity breast(1)|central_nervous_system(3)|endometrium(5)|kidney(2)|large_intestine(11)|lung(25)|skin(1) 48 Colorectal(23;0.221) GBM - Glioblastoma multiforme(68;0.00457)|OV - Ovarian serous cystadenocarcinoma(155;0.0152) CAGAGTGGCTGCCTCAGTTAC 0.468000 13 46 6.49762e-13 8.50031e-13 0.539581 1 0 ADAMTS12 81792 broad.mit.edu 37 5 33576173 33576173 + Missense_Mutation SNP C C T TCGA-CN-6019-01A-11D-1683-08 TCGA-CN-6019-10A-01D-1683-08 Untested Somatic Phase_I WXS none Illumina GAIIx 00769a89-ffc5-46f5-a42e-25b3eae886c2 424fb678-3744-4165-b4b3-daffa0319990 g.chr5:33576173C>T ENST00000504830.1 - 19 4293 c.3958G>A c.(3958-3960)Gga>Aga p.G1320R ADAMTS12_ENST00000352040.3_Missense_Mutation_p.G1235R NM_030955.2 NP_112217.2 P58397 ATS12_HUMAN ADAM metallopeptidase with thrombospondin type 1 motif, 12 1320 TSP type-1 5. proteolysis proteinaceous extracellular matrix metalloendopeptidase activity|zinc ion binding NS(1)|breast(7)|central_nervous_system(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(11)|large_intestine(31)|liver(1)|lung(135)|ovary(4)|prostate(1)|skin(6)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(5) 216 CTCCAGTTTCCGACGATCCAG 0.448000 HNSCC(64;0.19) 18 60 0 0 0.520397 0 0 CCDC132 55610 broad.mit.edu 37 7 92905556 92905556 + Missense_Mutation SNP A A T TCGA-CN-6019-01A-11D-1683-08 TCGA-CN-6019-10A-01D-1683-08 Untested Somatic Phase_I WXS none Illumina GAIIx 00769a89-ffc5-46f5-a42e-25b3eae886c2 424fb678-3744-4165-b4b3-daffa0319990 g.chr7:92905556A>T ENST00000544910.1 + 13 1011 c.791A>T c.(790-792)gAa>gTa p.E264V CCDC132_ENST00000317751.6_Missense_Mutation_p.E25V|CCDC132_ENST00000535481.1_Intron|CCDC132_ENST00000251739.5_Missense_Mutation_p.E294V|CCDC132_ENST00000305866.5_Missense_Mutation_p.E294V|CCDC132_ENST00000541136.1_Missense_Mutation_p.E105V NM_001257998.1 NP_001244927.1 Q96JG6 CC132_HUMAN coiled-coil domain containing 132 294 endometrium(1)|large_intestine(2)|lung(5) 8 all_cancers(62;2.64e-11)|all_epithelial(64;1.4e-10)|Breast(17;0.000675)|Lung NSC(181;0.0618)|all_lung(186;0.0837) STAD - Stomach adenocarcinoma(171;0.000302) GGTTATGTGGAACTATGTGCA 0.378000 29 90 0 0 0.706142 0 0 KIAA1210 57481 broad.mit.edu 37 X 118221839 118221839 + Silent SNP C C A TCGA-CN-6019-01A-11D-1683-08 TCGA-CN-6019-10A-01D-1683-08 Untested Somatic Phase_I WXS none Illumina GAIIx 00769a89-ffc5-46f5-a42e-25b3eae886c2 424fb678-3744-4165-b4b3-daffa0319990 g.chrX:118221839C>A ENST00000402510.2 - 11 3353 c.3354G>T c.(3352-3354)ctG>ctT p.L1118L NM_020721.1 NP_065772.1 Q9ULL0 K1210_HUMAN KIAA1210 1118 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 GTCTGGGAAGCAGCTGCTCCT 0.488000 6 77 0.00116845 0.00129002 0.217242 1 0 CHRNB1 1140 broad.mit.edu 37 17 7350422 7350422 + Silent SNP C C T TCGA-CN-6019-01A-11D-1683-08 TCGA-CN-6019-10A-01D-1683-08 Untested Somatic Phase_I WXS none Illumina GAIIx 00769a89-ffc5-46f5-a42e-25b3eae886c2 424fb678-3744-4165-b4b3-daffa0319990 g.chr17:7350422C>T ENST00000306071.2 + 5 481 c.414C>T c.(412-414)tcC>tcT p.S138S CHRNB1_ENST00000536404.2_Silent_p.S66S|CHRNB1_ENST00000576360.1_Silent_p.S66S NM_000747.2 NP_000738.2 P11230 ACHB_HUMAN cholinergic receptor, nicotinic, beta 1 (muscle) 138 behavioral response to nicotine|muscle contraction|muscle fiber development|neuromuscular synaptic transmission|postsynaptic membrane organization|regulation of membrane potential|synaptic transmission, cholinergic cell junction|nicotinic acetylcholine-gated receptor-channel complex|postsynaptic membrane acetylcholine binding|receptor activity NS(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(6)|lung(7)|ovary(3) 23 Prostate(122;0.157) CCGACGGCTCCGTGCGTTGGC 0.582000 9 37 0 0 0.361761 0 0 TPTE 7179 broad.mit.edu 37 21 10944746 10944746 + Missense_Mutation SNP G G T TCGA-CN-6019-01A-11D-1683-08 TCGA-CN-6019-10A-01D-1683-08 Untested Somatic Phase_I WXS none Illumina GAIIx 00769a89-ffc5-46f5-a42e-25b3eae886c2 424fb678-3744-4165-b4b3-daffa0319990 g.chr21:10944746G>T ENST00000298232.7 - 10 801 c.434C>A c.(433-435)aCt>aAt p.T145N TPTE_ENST00000342420.5_Missense_Mutation_p.T125N|TPTE_ENST00000415664.2_5'UTR|TPTE_ENST00000361285.4_Missense_Mutation_p.T163N NM_199259.2 NP_954868.1 P56180 TPTE_HUMAN transmembrane phosphatase with tensin homology 163 signal transduction integral to membrane ion channel activity|protein tyrosine phosphatase activity|protein tyrosine/serine/threonine phosphatase activity NS(1)|breast(1)|central_nervous_system(2)|cervix(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(19)|lung(76)|ovary(2)|prostate(2)|skin(8)|urinary_tract(1) 130 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) AATAATGGCAGTATCTAAAAT 0.318000 10 189 2.17888e-05 2.56892e-05 0.335167 1 0 PKHD1 5314 broad.mit.edu 37 6 51923195 51923195 + Missense_Mutation SNP G G T TCGA-CN-6019-01A-11D-1683-08 TCGA-CN-6019-10A-01D-1683-08 Untested Somatic Phase_I WXS none Illumina GAIIx 00769a89-ffc5-46f5-a42e-25b3eae886c2 424fb678-3744-4165-b4b3-daffa0319990 g.chr6:51923195G>T ENST00000371117.3 - 16 1713 c.1438C>A c.(1438-1440)Cct>Act p.P480T PKHD1_ENST00000340994.4_Missense_Mutation_p.P480T NM_138694.3 NP_619639.3 P08F94 PKHD1_HUMAN polycystic kidney and hepatic disease 1 (autosomal recessive) 480 cell-cell adhesion|cilium assembly|homeostatic process|kidney development|negative regulation of cellular component movement anchored to external side of plasma membrane|apical plasma membrane|integral to membrane|microtubule basal body protein binding|receptor activity NS(1)|autonomic_ganglia(1)|breast(8)|central_nervous_system(5)|cervix(1)|endometrium(16)|haematopoietic_and_lymphoid_tissue(4)|kidney(11)|large_intestine(59)|lung(139)|ovary(16)|prostate(8)|skin(20)|soft_tissue(1)|stomach(2)|upper_aerodigestive_tract(7)|urinary_tract(5) 304 Lung NSC(77;0.0605) ACCACATCAGGATTCAGCCAG 0.552000 29 94 3.65163e-15 4.84348e-15 0.706142 1 0 RACGAP1 29127 broad.mit.edu 37 12 50386143 50386143 + Missense_Mutation SNP T T G TCGA-CN-6019-01A-11D-1683-08 TCGA-CN-6019-10A-01D-1683-08 Untested Somatic Phase_I WXS none Illumina GAIIx 00769a89-ffc5-46f5-a42e-25b3eae886c2 424fb678-3744-4165-b4b3-daffa0319990 g.chr12:50386143T>G ENST00000434422.1 - 15 1764 c.1463A>C c.(1462-1464)cAt>cCt p.H488P RACGAP1_ENST00000547905.1_Missense_Mutation_p.H488P|RACGAP1_ENST00000551016.1_Missense_Mutation_p.H488P|RACGAP1_ENST00000427314.2_Missense_Mutation_p.H488P|RACGAP1_ENST00000454520.2_Missense_Mutation_p.H488P|RACGAP1_ENST00000312377.5_Missense_Mutation_p.H488P Q9H0H5 RGAP1_HUMAN Rac GTPase activating protein 1 488 Rho-GAP. blood coagulation|cytokinesis, actomyosin contractile ring assembly|cytokinesis, initiation of separation|embryo development|microtubule-based movement|neuroblast proliferation|regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction|spermatogenesis|sulfate transport acrosomal vesicle|cytosol|microtubule|midbody|nucleus|spindle alpha-tubulin binding|beta-tubulin binding|gamma-tubulin binding|GTPase activator activity|metal ion binding cervix(1)|endometrium(1)|kidney(3)|large_intestine(3)|lung(6) 14 CATTTTAGTATGTGGACTCTG 0.393000 8 46 0 0 0.307466 0 0 NFE2L3 9603 broad.mit.edu 37 7 26225151 26225151 + Silent SNP T T C TCGA-CN-6019-01A-11D-1683-08 TCGA-CN-6019-10A-01D-1683-08 Untested Somatic Phase_I WXS none Illumina GAIIx 00769a89-ffc5-46f5-a42e-25b3eae886c2 424fb678-3744-4165-b4b3-daffa0319990 g.chr7:26225151T>C ENST00000056233.3 + 4 2092 c.1833T>C c.(1831-1833)tgT>tgC p.C611C NM_004289.6 NP_004280.5 Q9Y4A8 NF2L3_HUMAN nuclear factor, erythroid 2-like 3 611 Leucine-zipper. transcription from RNA polymerase II promoter nucleus protein dimerization activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription coactivator activity breast(2)|endometrium(1)|kidney(2)|large_intestine(4)|lung(5)|ovary(1)|prostate(2)|skin(5)|urinary_tract(7) 29 ATGATGTATGTAACTTGCAAG 0.353000 9 58 0 0 0.335167 0 0 PPP1R10 5514 broad.mit.edu 37 6 30574254 30574254 + Missense_Mutation SNP G G A TCGA-CN-6019-01A-11D-1683-08 TCGA-CN-6019-10A-01D-1683-08 Untested Somatic Phase_I WXS none Illumina GAIIx 00769a89-ffc5-46f5-a42e-25b3eae886c2 424fb678-3744-4165-b4b3-daffa0319990 g.chr6:30574254G>A ENST00000376511.2 - 8 1177 c.625C>T c.(625-627)Cgt>Tgt p.R209C NM_002714.3 NP_002705.2 Q96QC0 PP1RA_HUMAN protein phosphatase 1, regulatory subunit 10 209 Interaction with TOX4 (By similarity). protein import into nucleus|transcription, DNA-dependent PTW/PP1 phosphatase complex DNA binding|protein phosphatase inhibitor activity|RNA binding|zinc ion binding cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(2)|lung(9)|ovary(2)|prostate(3)|skin(1) 25 CCAGTGGAACGGAACTTGGCA 0.567000 12 78 0 0 0.457914 0 0 TP53 7157 broad.mit.edu 37 17 7574034 7574034 + Splice_Site SNP C C A TCGA-CN-6019-01A-11D-1683-08 TCGA-CN-6019-10A-01D-1683-08 Untested Somatic Phase_I WXS none Illumina GAIIx 00769a89-ffc5-46f5-a42e-25b3eae886c2 424fb678-3744-4165-b4b3-daffa0319990 g.chr17:7574034C>A ENST00000420246.2 - 11 1259 c.e11-1 TP53_ENST00000269305.4_Splice_Site|TP53_ENST00000455263.2_Splice_Site|TP53_ENST00000445888.2_Splice_Site|TP53_ENST00000359597.4_Intron|TP53_ENST00000413465.2_Intron NM_001126114.2|NM_001276696.1 NP_001119586.1|NP_001263625.1 P04637 P53_HUMAN tumor protein p53 activation of caspase activity by cytochrome c|base-excision repair|blood coagulation|cell cycle arrest|cell differentiation|cell proliferation|cellular protein localization|cellular response to drug|cellular response to glucose starvation|cellular response to hypoxia|cellular response to ionizing radiation|cellular response to UV|determination of adult lifespan|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|ER overload response|interspecies interaction between organisms|negative regulation of apoptosis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of helicase activity|negative regulation of transcription from RNA polymerase II promoter|nucleotide-excision repair|oxidative stress-induced premature senescence|positive regulation of histone deacetylation|positive regulation of neuron apoptosis|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of reactive oxygen species metabolic process|positive regulation of thymocyte apoptosis|positive regulation of transcription from RNA polymerase II promoter|protein localization|protein tetramerization|Ras protein signal transduction|regulation of mitochondrial membrane permeability|replicative senescence|response to antibiotic|response to gamma radiation|response to X-ray cytoplasm|cytosol|endoplasmic reticulum|insoluble fraction|mitochondrion|nuclear chromatin|nuclear matrix|nucleolus|nucleus|PML body|protein complex|replication fork ATP binding|chaperone binding|chromatin binding|copper ion binding|damaged DNA binding|DNA strand annealing activity|histone acetyltransferase binding|p53 binding|protease binding|protein binding|protein heterodimerization activity|protein kinase binding|protein N-terminus binding|protein phosphatase 2A binding|RNA polymerase II transcription factor binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|transcription repressor activity|ubiquitin protein ligase binding|zinc ion binding p.?(9)|p.0?(8)|p.I332fs*49(1) NS(16)|adrenal_gland(37)|autonomic_ganglia(16)|biliary_tract(273)|bone(108)|breast(2530)|central_nervous_system(1264)|cervix(68)|endometrium(223)|eye(24)|fallopian_tube(1)|gastrointestinal_tract_(site_indeterminate)(1)|genital_tract(16)|haematopoietic_and_lymphoid_tissue(1301)|kidney(96)|large_intestine(5124)|liver(897)|lung(2388)|meninges(5)|oesophagus(1473)|ovary(1659)|pancreas(452)|penis(10)|peritoneum(33)|pituitary(4)|placenta(1)|pleura(3)|prostate(235)|salivary_gland(43)|skin(791)|small_intestine(14)|soft_tissue(220)|stomach(1158)|testis(11)|thymus(21)|thyroid(54)|upper_aerodigestive_tract(2271)|urinary_tract(1259)|vagina(6)|vulva(79) 24185 all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081) GBM - Glioblastoma multiforme(2;1.59e-06)|READ - Rectum adenocarcinoma(115;0.174) GCCCACGGATCTGCAGCAACA 0.512000 111 """Mis, N, F""" """breast, colorectal, lung, sarcoma, adrenocortical, glioma, multiple other tumour types""" """breast, sarcoma, adrenocortical carcinoma, glioma, multiple other tumour types""" Other conserved DNA damage response genes Osteosarcoma, Familial Clustering of;Li-Fraumeni syndrome;Hereditary Breast-Ovarian Cancer, non-BRCA1/2;Hereditary Adrenocortical Cancer;Endometrial Cancer, Familial Clustering of HNSCC(1;<9.43e-08)|TCGA GBM(1;<1E-08)|TSP Lung(2;<1E-08)|TCGA Ovarian(1;<1.89e-07)|Multiple Myeloma(5;0.019) 5 15 0.000602214 0.000668738 0.184627 1 0 STOX2 56977 broad.mit.edu 37 4 184938290 184938290 + Silent SNP C C T TCGA-CN-6019-01A-11D-1683-08 TCGA-CN-6019-10A-01D-1683-08 Untested Somatic Phase_I WXS none Illumina GAIIx 00769a89-ffc5-46f5-a42e-25b3eae886c2 424fb678-3744-4165-b4b3-daffa0319990 g.chr4:184938290C>T ENST00000308497.4 + 4 4069 c.2634C>T c.(2632-2634)aaC>aaT p.N878N NM_020225.1 NP_064610.1 Q9P2F5 STOX2_HUMAN storkhead box 2 878 embryo development|maternal placenta development breast(1)|endometrium(7)|lung(6) 14 all_lung(41;1.89e-12)|Lung NSC(41;3.48e-12)|Colorectal(36;0.00435)|Renal(120;0.0246)|Hepatocellular(41;0.0268)|all_hematologic(60;0.027)|Prostate(90;0.0283) all cancers(43;2.85e-26)|Epithelial(43;2.27e-22)|OV - Ovarian serous cystadenocarcinoma(60;3.4e-10)|Colorectal(24;8.23e-06)|GBM - Glioblastoma multiforme(59;1.64e-05)|STAD - Stomach adenocarcinoma(60;3.6e-05)|COAD - Colon adenocarcinoma(29;4.37e-05)|LUSC - Lung squamous cell carcinoma(40;0.008)|READ - Rectum adenocarcinoma(43;0.227) TTGAAAGTAACCGTCGTCAGA 0.498000 4 14 0 0 0.184627 0 0 RNF213 57674 broad.mit.edu 37 17 78318661 78318661 + Missense_Mutation SNP C C A TCGA-CN-6019-01A-11D-1683-08 TCGA-CN-6019-10A-01D-1683-08 Untested Somatic Phase_I WXS none Illumina GAIIx 00769a89-ffc5-46f5-a42e-25b3eae886c2 424fb678-3744-4165-b4b3-daffa0319990 g.chr17:78318661C>A ENST00000582970.1 + 29 6669 c.6526C>A c.(6526-6528)Caa>Aaa p.Q2176K RNF213_ENST00000508628.2_Missense_Mutation_p.Q2225K|RNF213_ENST00000336301.6_Missense_Mutation_p.Q249K NM_001256071.1 NP_001243000.1 Q9HCF4 ALO17_HUMAN ring finger protein 213 1113 NS(1)|breast(7)|central_nervous_system(1)|cervix(3)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(23)|lung(36)|ovary(11)|pancreas(2)|prostate(4)|skin(3)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(3) 130 all_neural(118;0.0538) BRCA - Breast invasive adenocarcinoma(99;0.0252)|OV - Ovarian serous cystadenocarcinoma(97;0.057) ACGATTCAATCAAAACCAAGA 0.493000 16 53 6.94344e-10 8.72498e-10 0.539581 1 0 MUC5B 727897 broad.mit.edu 37 11 1263968 1263968 + Missense_Mutation SNP C C T TCGA-CN-6019-01A-11D-1683-08 TCGA-CN-6019-10A-01D-1683-08 Untested Somatic Phase_I WXS none Illumina GAIIx 00769a89-ffc5-46f5-a42e-25b3eae886c2 424fb678-3744-4165-b4b3-daffa0319990 g.chr11:1263968C>T ENST00000447027.1 + 31 5925 c.5867C>T c.(5866-5868)gCc>gTc p.A1956V MUC5B_ENST00000529681.1_Missense_Mutation_p.A1953V|RP11-532E4.2_ENST00000532061.2_RNA Q9HC84 MUC5B_HUMAN mucin 5B, oligomeric mucus/gel-forming 1953 11 X approximate tandem repeats, Ser/Thr- rich.|7 X Cys-rich subdomain repeats.|Thr-rich. S -> F (in Ref. 4; CAA96577). cell adhesion extracellular region extracellular matrix structural constituent|protein binding cervix(2)|endometrium(36)|kidney(9)|lung(89)|urinary_tract(1) 137 all_cancers(49;6.97e-08)|all_epithelial(84;3.45e-05)|Breast(177;0.000307)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.229) BRCA - Breast invasive adenocarcinoma(625;0.00141)|Lung(200;0.0853)|LUSC - Lung squamous cell carcinoma(625;0.1) AGCTCCAAAGCCACTCCCTCC 0.632000 25 94 0 0 0.654019 0 0 PHF3 23469 broad.mit.edu 37 6 64416739 64416739 + Silent SNP A A G TCGA-CN-6019-01A-11D-1683-08 TCGA-CN-6019-10A-01D-1683-08 Untested Somatic Phase_I WXS none Illumina GAIIx 00769a89-ffc5-46f5-a42e-25b3eae886c2 424fb678-3744-4165-b4b3-daffa0319990 g.chr6:64416739A>G ENST00000262043.3 + 13 4024 c.3684A>G c.(3682-3684)gtA>gtG p.V1228V PHF3_ENST00000393387.1_Silent_p.V1228V Q92576 PHF3_HUMAN PHD finger protein 3 1228 multicellular organismal development|transcription, DNA-dependent nucleus zinc ion binding breast(7)|cervix(2)|endometrium(8)|kidney(7)|large_intestine(18)|lung(21)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(6) 75 all_cancers(3;0.0241)|all_epithelial(2;0.00306)|Lung NSC(77;0.121) LUSC - Lung squamous cell carcinoma(74;0.0644)|Lung(124;0.148) CCTATCCAGTATCTGGCTCCC 0.398000 29 102 0 0 0.750413 0 0 NBPF10 100132406 broad.mit.edu 37 1 145367739 145367739 + Silent SNP A A G rs146714035 by1000genomes TCGA-CN-6019-01A-11D-1683-08 TCGA-CN-6019-10A-01D-1683-08 Untested Somatic Phase_I WXS none Illumina GAIIx 00769a89-ffc5-46f5-a42e-25b3eae886c2 424fb678-3744-4165-b4b3-daffa0319990 g.chr1:145367739A>G ENST00000342960.5 + 83 10370 c.10335A>G c.(10333-10335)aaA>aaG p.K3445K NBPF10_ENST00000369338.1_Intron|NBPF10_ENST00000369339.2_Intron NM_001039703.4 NP_001034792.4 A6NDV3 A6NDV3_HUMAN neuroblastoma breakpoint family, member 10 3445 p.K3445K(4) NS(3)|breast(1)|central_nervous_system(3)|endometrium(12)|kidney(23)|lung(15)|ovary(1)|prostate(7)|skin(6)|urinary_tract(2) 73 all_hematologic(923;0.032) Colorectal(1306;1.36e-07)|KIRC - Kidney renal clear cell carcinoma(1967;0.00258) ggaaggggaaaaaaagaaggg 0.413000 4 57 0 0 0.150653 0 0 TLN1 7094 broad.mit.edu 37 9 35707795 35707795 + Missense_Mutation SNP T T A TCGA-CN-6019-01A-11D-1683-08 TCGA-CN-6019-10A-01D-1683-08 Untested Somatic Phase_I WXS none Illumina GAIIx 00769a89-ffc5-46f5-a42e-25b3eae886c2 424fb678-3744-4165-b4b3-daffa0319990 g.chr9:35707795T>A ENST00000314888.9 - 35 4918 c.4565A>T c.(4564-4566)aAg>aTg p.K1522M TLN1_ENST00000464379.1_5'UTR|TLN1_ENST00000540444.1_Missense_Mutation_p.K1522M NM_006289.3 NP_006280.3 Q9Y490 TLN1_HUMAN talin 1 1522 Interaction with SYNM. axon guidance|cell adhesion|cell-cell junction assembly|cellular component movement|cytoskeletal anchoring at plasma membrane|muscle contraction|platelet activation|platelet degranulation actin cytoskeleton|centrosome|cytosol|extracellular region|focal adhesion|intracellular membrane-bounded organelle|ruffle membrane actin binding|insulin receptor binding|LIM domain binding|structural constituent of cytoskeleton|vinculin binding NS(2)|breast(8)|central_nervous_system(2)|endometrium(10)|kidney(5)|large_intestine(9)|lung(32)|ovary(3)|prostate(5)|skin(3)|upper_aerodigestive_tract(6) 85 all_epithelial(49;0.167) Lung(28;0.00276)|LUSC - Lung squamous cell carcinoma(32;0.00418)|STAD - Stomach adenocarcinoma(86;0.194) AAACTGGCGCTTGGCAGTAGG 0.547000 73 132 0 0 0.870114 0 0 LILRA1 11024 broad.mit.edu 37 19 55106221 55106221 + Silent SNP G G A TCGA-CN-6019-01A-11D-1683-08 TCGA-CN-6019-10A-01D-1683-08 Untested Somatic Phase_I WXS none Illumina GAIIx 00769a89-ffc5-46f5-a42e-25b3eae886c2 424fb678-3744-4165-b4b3-daffa0319990 g.chr19:55106221G>A ENST00000453777.1 + 4 332 c.162G>A c.(160-162)gaG>gaA p.E54E LILRA1_ENST00000473156.1_3'UTR|LILRB1_ENST00000448689.1_Intron|LILRB1_ENST00000396321.2_Intron|LILRB1_ENST00000418536.2_Intron|LILRA1_ENST00000251372.3_Silent_p.E54E NM_001278318.1 NP_001265247.1 O75019 LIRA1_HUMAN leukocyte immunoglobulin-like receptor, subfamily A (with TM domain), member 1 54 Ig-like C2-type 1. cell surface receptor linked signaling pathway|defense response|regulation of immune response integral to membrane|plasma membrane antigen binding|transmembrane receptor activity breast(2)|central_nervous_system(1)|endometrium(1)|kidney(3)|large_intestine(5)|liver(1)|lung(23)|ovary(1)|prostate(3)|skin(6)|upper_aerodigestive_tract(1) 47 GBM - Glioblastoma multiforme(193;0.0348) GGATCCTGGAGACCCAGGAGT 0.582000 15 85 0 0 0.479597 0 0 ZNF91 7644 broad.mit.edu 37 19 23544891 23544891 + Missense_Mutation SNP T T A TCGA-CN-6019-01A-11D-1683-08 TCGA-CN-6019-10A-01D-1683-08 Untested Somatic Phase_I WXS none Illumina GAIIx 00769a89-ffc5-46f5-a42e-25b3eae886c2 424fb678-3744-4165-b4b3-daffa0319990 g.chr19:23544891T>A ENST00000300619.7 - 4 1095 c.890A>T c.(889-891)gAa>gTa p.E297V ZNF91_ENST00000397082.2_Missense_Mutation_p.E265V|ZNF91_ENST00000599743.1_Intron NM_003430.2 NP_003421.2 Q05481 ZNF91_HUMAN zinc finger protein 91 297 nucleus DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding all_lung(12;0.0349)|Lung NSC(12;0.0538)|all_epithelial(12;0.0611) GCCACATTCTTCACATTTGTA 0.393000 18 86 0 0 0.557998 0 0 OR5M11 219487 broad.mit.edu 37 11 56309937 56309937 + Missense_Mutation SNP G G T TCGA-CN-6019-01A-11D-1683-08 TCGA-CN-6019-10A-01D-1683-08 Untested Somatic Phase_I WXS none Illumina GAIIx 00769a89-ffc5-46f5-a42e-25b3eae886c2 424fb678-3744-4165-b4b3-daffa0319990 g.chr11:56309937G>T ENST00000528616.2 - 1 820 c.797C>A c.(796-798)aCt>aAt p.T266N NM_001005245.1 NP_001005245.1 Q96RB7 OR5MB_HUMAN olfactory receptor, family 5, subfamily M, member 11 266 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity central_nervous_system(1)|endometrium(2)|large_intestine(1)|lung(14) 18 TTCCTCAACAGTCTTATCTGT 0.423000 7 54 0.0293803 0.0298492 0.248553 1 0 RPAP1 26015 broad.mit.edu 37 15 41819777 41819777 + Nonsense_Mutation SNP C C T TCGA-CN-6019-01A-11D-1683-08 TCGA-CN-6019-10A-01D-1683-08 Untested Somatic Phase_I WXS none Illumina GAIIx 00769a89-ffc5-46f5-a42e-25b3eae886c2 424fb678-3744-4165-b4b3-daffa0319990 g.chr15:41819777C>T ENST00000304330.4 - 12 1571 c.1455G>A c.(1453-1455)tgG>tgA p.W485* RPAP1_ENST00000561603.1_Nonsense_Mutation_p.W485* NM_015540.2 NP_056355.2 Q9BWH6 RPAP1_HUMAN RNA polymerase II associated protein 1 485 nucleus DNA binding|DNA-directed RNA polymerase activity NS(1)|breast(1)|cervix(2)|endometrium(4)|kidney(4)|large_intestine(6)|lung(16)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(5) 45 all_cancers(109;6.59e-20)|all_epithelial(112;7.67e-17)|Lung NSC(122;5.34e-11)|all_lung(180;4.17e-10)|Melanoma(134;0.0179)|Ovarian(310;0.143)|Colorectal(260;0.173) OV - Ovarian serous cystadenocarcinoma(18;2.84e-17)|GBM - Glioblastoma multiforme(113;1.68e-06)|Colorectal(105;0.0163)|BRCA - Breast invasive adenocarcinoma(123;0.117) CTCCATGGTACCAAGAGAAGG 0.552000 3 19 0 0 0.115264 0 0 C8orf37 157657 broad.mit.edu 37 8 96259940 96259940 + Missense_Mutation SNP G G A TCGA-CN-6019-01A-11D-1683-08 TCGA-CN-6019-10A-01D-1683-08 Untested Somatic Phase_I WXS none Illumina GAIIx 00769a89-ffc5-46f5-a42e-25b3eae886c2 424fb678-3744-4165-b4b3-daffa0319990 g.chr8:96259940G>A ENST00000286688.5 - 6 540 c.529C>T c.(529-531)Cgg>Tgg p.R177W NM_177965.3 NP_808880.1 Q96NL8 CH037_HUMAN chromosome 8 open reading frame 37 177 kidney(1)|large_intestine(1)|lung(5) 7 Breast(36;3.41e-05) GCATATGCCCGTGTTCCTTTC 0.393000 7 45 0 0 0.248553 0 0 CREB3L2 64764 broad.mit.edu 37 7 137567275 137567275 + Missense_Mutation SNP G G A TCGA-CN-6019-01A-11D-1683-08 TCGA-CN-6019-10A-01D-1683-08 Untested Somatic Phase_I WXS none Illumina GAIIx 00769a89-ffc5-46f5-a42e-25b3eae886c2 424fb678-3744-4165-b4b3-daffa0319990 g.chr7:137567275G>A ENST00000330387.6 - 11 1721 c.1370C>T c.(1369-1371)tCc>tTc p.S457F NM_194071.3 NP_919047.2 Q70SY1 CR3L2_HUMAN cAMP responsive element binding protein 3-like 2 457 chondrocyte differentiation|positive regulation of transcription, DNA-dependent|response to endoplasmic reticulum stress|response to unfolded protein endoplasmic reticulum membrane|integral to membrane|nucleus cAMP response element binding|protein dimerization activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity FUS/CREB3L2(158) breast(1)|large_intestine(4)|lung(9)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2) 19 GAGCAGGGAGGAACCTCTATC 0.582000 T FUS fibromyxoid sarcoma 6 42 0 0 0.217242 0 0 GAD1 2571 broad.mit.edu 37 2 171686090 171686090 + Missense_Mutation SNP G G T TCGA-CN-6019-01A-11D-1683-08 TCGA-CN-6019-10A-01D-1683-08 Untested Somatic Phase_I WXS none Illumina GAIIx 00769a89-ffc5-46f5-a42e-25b3eae886c2 424fb678-3744-4165-b4b3-daffa0319990 g.chr2:171686090G>T ENST00000358196.3 + 4 801 c.251G>T c.(250-252)cGg>cTg p.R84L GAD1_ENST00000429023.1_3'UTR|GAD1_ENST00000375272.1_Missense_Mutation_p.R84L|GAD1_ENST00000344257.5_Missense_Mutation_p.R84L NM_000817.2 NP_000808.2 Q99259 DCE1_HUMAN glutamate decarboxylase 1 (brain, 67kDa) 84 glutamate decarboxylation to succinate|neurotransmitter biosynthetic process|neurotransmitter secretion|protein-pyridoxal-5-phosphate linkage clathrin sculpted gamma-aminobutyric acid transport vesicle membrane|plasma membrane glutamate decarboxylase activity|protein binding|pyridoxal phosphate binding endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(11)|lung(15)|ovary(1)|urinary_tract(2) 35 L-Glutamic Acid(DB00142)|Pyridoxal Phosphate(DB00114) AACAGCGACCGGGATGCCCGC 0.547000 4 89 0.000602214 0.000668738 0.184627 1 0 WNK4 65266 broad.mit.edu 37 17 40940808 40940808 + Missense_Mutation SNP C C A TCGA-CN-6019-01A-11D-1683-08 TCGA-CN-6019-10A-01D-1683-08 Untested Somatic Phase_I WXS none Illumina GAIIx 00769a89-ffc5-46f5-a42e-25b3eae886c2 424fb678-3744-4165-b4b3-daffa0319990 g.chr17:40940808C>A ENST00000246914.5 + 11 2171 c.2150C>A c.(2149-2151)gCt>gAt p.A717D NM_032387.4 NP_115763.2 Q96J92 WNK4_HUMAN WNK lysine deficient protein kinase 4 717 intracellular protein kinase cascade tight junction ATP binding|protein serine/threonine kinase activity NS(1)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(10)|ovary(3)|prostate(1)|skin(5)|stomach(1) 35 Breast(137;0.000143) BRCA - Breast invasive adenocarcinoma(366;0.0749) GAGATTGCAGCTGCCATGGTG 0.537000 11 51 0.000151284 0.000173026 0.435327 1 0 NCOA2 10499 broad.mit.edu 37 8 71036232 71036232 + Missense_Mutation SNP T T A TCGA-CN-6019-01A-11D-1683-08 TCGA-CN-6019-10A-01D-1683-08 Untested Somatic Phase_I WXS none Illumina GAIIx 00769a89-ffc5-46f5-a42e-25b3eae886c2 424fb678-3744-4165-b4b3-daffa0319990 g.chr8:71036232T>A ENST00000452400.2 - 21 4361 c.4180A>T c.(4180-4182)Atg>Ttg p.M1394L NCOA2_ENST00000267974.4_Missense_Mutation_p.M482L NM_006540.2 NP_006531.1 Q15596 NCOA2_HUMAN nuclear receptor coactivator 2 1394 cellular lipid metabolic process|transcription, DNA-dependent nucleoplasm histone acetyltransferase activity|ligand-dependent nuclear receptor binding|nuclear hormone receptor binding|signal transducer activity PAX3/NCOA2(4)|HEY1/NCOA2(10) NS(1)|breast(4)|endometrium(7)|kidney(4)|large_intestine(10)|lung(25)|ovary(1)|pancreas(2)|prostate(2)|skin(4) 60 Breast(64;0.201) Epithelial(68;0.0147)|OV - Ovarian serous cystadenocarcinoma(28;0.0455)|all cancers(69;0.0606) TTGGTCGCCATGGACACATTG 0.517000 T """RUNXBP2, HEY1""" """AML, Chondrosarcoma""" 6 30 0 0 0.217242 0 0 SPOPL 339745 broad.mit.edu 37 2 139316621 139316621 + Silent SNP A A C TCGA-CN-6019-01A-11D-1683-08 TCGA-CN-6019-10A-01D-1683-08 Untested Somatic Phase_I WXS none Illumina GAIIx 00769a89-ffc5-46f5-a42e-25b3eae886c2 424fb678-3744-4165-b4b3-daffa0319990 g.chr2:139316621A>C ENST00000280098.4 + 6 889 c.510A>C c.(508-510)atA>atC p.I170I NM_001001664.2 NP_001001664.1 Q6IQ16 SPOPL_HUMAN speckle-type POZ protein-like 170 nucleus breast(2)|cervix(2)|endometrium(2)|large_intestine(2)|lung(11)|skin(2) 21 BRCA - Breast invasive adenocarcinoma(221;0.0296) CAGTAAACATATCAGGACATA 0.353000 14 77 0 0 0.479597 0 0 ZNF219 51222 broad.mit.edu 37 14 21561411 21561411 + Silent SNP C C A TCGA-CN-6019-01A-11D-1683-08 TCGA-CN-6019-10A-01D-1683-08 Untested Somatic Phase_I WXS none Illumina GAIIx 00769a89-ffc5-46f5-a42e-25b3eae886c2 424fb678-3744-4165-b4b3-daffa0319990 g.chr14:21561411C>A ENST00000360947.3 - 3 456 c.45G>T c.(43-45)ccG>ccT p.P15P ZNF219_ENST00000451119.2_Silent_p.P15P|ZNF219_ENST00000421093.2_Silent_p.P15P NM_016423.2 NP_057507.2 Q9P2Y4 ZN219_HUMAN zinc finger protein 219 15 negative regulation of transcription, DNA-dependent integral to membrane|nucleus DNA binding|histamine receptor activity|protein binding|sequence-specific DNA binding transcription factor activity|zinc ion binding breast(1)|central_nervous_system(1)|cervix(1)|large_intestine(1)|lung(1)|ovary(1)|prostate(2) 8 all_cancers(95;0.00185) OV - Ovarian serous cystadenocarcinoma(11;9.86e-11)|Epithelial(56;1.27e-08)|all cancers(55;6.06e-08) GBM - Glioblastoma multiforme(265;0.0191) CCGGCGGCGACGGCGCTAAGT 0.657000 OREG0022565 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 7 16 0.0293803 0.0298492 0.248553 1 0 KIAA1549 57670 broad.mit.edu 37 7 138604033 138604033 + Silent SNP C C T TCGA-CN-6019-01A-11D-1683-08 TCGA-CN-6019-10A-01D-1683-08 Untested Somatic Phase_I WXS none Illumina GAIIx 00769a89-ffc5-46f5-a42e-25b3eae886c2 424fb678-3744-4165-b4b3-daffa0319990 g.chr7:138604033C>T ENST00000440172.1 - 2 387 c.339G>A c.(337-339)ccG>ccA p.P113P KIAA1549_ENST00000422774.1_Silent_p.P113P|KIAA1549_ENST00000242365.4_Silent_p.P63P NM_001164665.1|NM_020910.2 NP_001158137.1|NP_065961.2 Q9HCM3 K1549_HUMAN KIAA1549 113 integral to membrane p.P113P(1)|p.P63P(1) KIAA1549/BRAF(703) large_intestine(4)|pancreas(1)|upper_aerodigestive_tract(2) 7 TAGTGGCAGACGGCGGGGCTG 0.517000 O BRAF pilocytic astrocytoma 11 95 0 0 0.387290 0 0 RPLP0 6175 broad.mit.edu 37 12 120634606 120634606 + Silent SNP G G A TCGA-CN-6019-01A-11D-1683-08 TCGA-CN-6019-10A-01D-1683-08 Untested Somatic Phase_I WXS none Illumina GAIIx 00769a89-ffc5-46f5-a42e-25b3eae886c2 424fb678-3744-4165-b4b3-daffa0319990 g.chr12:120634606G>A ENST00000551150.1 - 7 1239 c.924C>T c.(922-924)gaC>gaT p.D308D RPLP0_ENST00000552292.1_Silent_p.D98D|RPLP0_ENST00000228306.4_Silent_p.D308D|RPLP0_ENST00000546989.1_Silent_p.D272D|RPLP0_ENST00000392514.4_Silent_p.D308D|RPLP0_ENST00000313104.5_Silent_p.D246D P05388 RLA0_HUMAN ribosomal protein, large, P0 308 endocrine pancreas development|interspecies interaction between organisms|ribosome biogenesis|translational elongation|translational termination|viral transcription cytosolic large ribosomal subunit|nucleus protein binding|RNA binding|structural constituent of ribosome breast(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(7)|ovary(1)|prostate(1) 15 all_neural(191;0.0804)|Medulloblastoma(191;0.0922) CCATATCCTCGTCCGACTCCT 0.488000 10 50 0 0 0.335167 0 0 C20orf26 26074 broad.mit.edu 37 20 20150070 20150070 + Missense_Mutation SNP G G A TCGA-CN-6019-01A-11D-1683-08 TCGA-CN-6019-10A-01D-1683-08 Untested Somatic Phase_I WXS none Illumina GAIIx 00769a89-ffc5-46f5-a42e-25b3eae886c2 424fb678-3744-4165-b4b3-daffa0319990 g.chr20:20150070G>A ENST00000245957.5 + 13 1427 c.1351G>A c.(1351-1353)Gac>Aac p.D451N C20orf26_ENST00000377306.1_Missense_Mutation_p.D451N|C20orf26_ENST00000389656.3_5'UTR|C20orf26_ENST00000451767.2_Missense_Mutation_p.D451N|C20orf26_ENST00000377309.2_5'UTR NM_015585.3 NP_056400.3 Q8NHU2 CT026_HUMAN chromosome 20 open reading frame 26 451 NS(2)|breast(3)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(11)|lung(42)|ovary(3)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1) 77 READ - Rectum adenocarcinoma(2;0.171) CCTCGAGCAGGACCTCTACGT 0.493000 14 71 0 0 0.479597 0 0 MLXIPL 51085 broad.mit.edu 37 7 73008629 73008629 + Silent SNP G G A TCGA-CN-6019-01A-11D-1683-08 TCGA-CN-6019-10A-01D-1683-08 Untested Somatic Phase_I WXS none Illumina GAIIx 00769a89-ffc5-46f5-a42e-25b3eae886c2 424fb678-3744-4165-b4b3-daffa0319990 g.chr7:73008629G>A ENST00000313375.3 - 16 2462 c.2415C>T c.(2413-2415)taC>taT p.Y805Y MLXIPL_ENST00000429400.2_Silent_p.Y786Y|MLXIPL_ENST00000414749.2_Silent_p.Y803Y|MLXIPL_ENST00000434326.1_Silent_p.Y711Y|MLXIPL_ENST00000395189.1_Silent_p.Y712Y|MLXIPL_ENST00000354613.1_Silent_p.Y784Y NM_032951.2|NM_032953.2 NP_116569.1|NP_116571.1 Q9NP71 WBS14_HUMAN MLX interacting protein-like 805 anatomical structure morphogenesis|energy reserve metabolic process|glucose mediated signaling pathway|intracellular protein kinase cascade|negative regulation of cell cycle arrest|negative regulation of oxidative phosphorylation|negative regulation of peptidyl-serine phosphorylation|positive regulation of cell proliferation|positive regulation of fatty acid biosynthetic process|positive regulation of glycolysis|positive regulation of transcription from RNA polymerase II promoter|triglyceride homeostasis cytosol|transcription factor complex carbohydrate response element binding|protein heterodimerization activity|sequence-specific DNA binding transcription factor activity|transcription factor binding cervix(1)|kidney(1)|large_intestine(1)|lung(5)|ovary(1)|pancreas(1)|skin(2)|upper_aerodigestive_tract(1) 13 Lung NSC(55;0.0659)|all_lung(88;0.152) GCAGAGAGCAGTACTGGTCCA 0.627000 14 56 0 0 0.435327 0 0 DNMT3A 1788 broad.mit.edu 37 2 25463264 25463264 + Silent SNP G G A TCGA-CN-6019-01A-11D-1683-08 TCGA-CN-6019-10A-01D-1683-08 Untested Somatic Phase_I WXS none Illumina GAIIx 00769a89-ffc5-46f5-a42e-25b3eae886c2 424fb678-3744-4165-b4b3-daffa0319990 g.chr2:25463264G>A ENST00000264709.3 - 19 2566 c.2229C>T c.(2227-2229)ccC>ccT p.P743P DNMT3A_ENST00000402667.1_Silent_p.P520P|DNMT3A_ENST00000380746.4_Silent_p.P554P|DNMT3A_ENST00000474887.1_5'UTR|DNMT3A_ENST00000321117.5_Silent_p.P743P NM_175629.2 NP_783328.1 Q9Y6K1 DNM3A_HUMAN DNA (cytosine-5-)-methyltransferase 3 alpha 743 regulation of gene expression by genetic imprinting cytoplasm|euchromatin|nuclear matrix DNA (cytosine-5-)-methyltransferase activity|DNA binding|metal ion binding|protein binding breast(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(964)|kidney(3)|large_intestine(10)|lung(29)|ovary(3)|prostate(3)|skin(2)|upper_aerodigestive_tract(2) 1021 Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215) CTCCCTCCTTGGGCCGCGCAT 0.567000 """Mis, F, N, S""" AML 22 85 0 0 0.624587 0 0 APAF1 317 broad.mit.edu 37 12 99065373 99065373 + Nonsense_Mutation SNP C C T TCGA-CN-6019-01A-11D-1683-08 TCGA-CN-6019-10A-01D-1683-08 Untested Somatic Phase_I WXS none Illumina GAIIx 00769a89-ffc5-46f5-a42e-25b3eae886c2 424fb678-3744-4165-b4b3-daffa0319990 g.chr12:99065373C>T ENST00000357310.1 + 12 2246 c.1669C>T c.(1669-1671)Cga>Tga p.R557* APAF1_ENST00000547045.1_Nonsense_Mutation_p.R557*|APAF1_ENST00000552268.1_Intron|APAF1_ENST00000359972.2_Nonsense_Mutation_p.R546*|APAF1_ENST00000339433.3_Nonsense_Mutation_p.R557*|APAF1_ENST00000333991.1_Intron|APAF1_ENST00000549007.1_Nonsense_Mutation_p.R557*|APAF1_ENST00000551964.1_Nonsense_Mutation_p.R557*|APAF1_ENST00000550527.1_Nonsense_Mutation_p.R546* NM_181868.1 NP_863658.1 O14727 APAF_HUMAN apoptotic peptidase activating factor 1 557 activation of caspase activity by cytochrome c|defense response|induction of apoptosis by intracellular signals|nervous system development cytosol|Golgi apparatus|nucleus ATP binding|caspase activator activity|protein binding breast(1)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(13)|liver(1)|lung(15)|ovary(2)|prostate(2)|skin(1) 42 Adenosine triphosphate(DB00171) CCTTCTTGGACGACAGCCATT 0.413000 10 110 0 0 0.387290 0 0 BCL3 602 broad.mit.edu 37 19 45262845 45262845 + Silent SNP C C A TCGA-CN-6019-01A-11D-1683-08 TCGA-CN-6019-10A-01D-1683-08 Untested Somatic Phase_I WXS none Illumina GAIIx 00769a89-ffc5-46f5-a42e-25b3eae886c2 424fb678-3744-4165-b4b3-daffa0319990 g.chr19:45262845C>A ENST00000164227.5 + 9 1582 c.1338C>A c.(1336-1338)ccC>ccA p.P446P NM_005178.4 NP_005169.2 P20749 BCL3_HUMAN B-cell CLL/lymphoma 3 446 Pro/Ser-rich. DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|I-kappaB kinase/NF-kappaB cascade|maintenance of protein location in nucleus|negative regulation of apoptosis|negative regulation of interleukin-8 biosynthetic process|negative regulation of transcription, DNA-dependent|positive regulation of translation|protein import into nucleus, translocation|regulation of DNA binding|regulation of NF-kappaB import into nucleus|response to UV-C|response to virus Bcl3-Bcl10 complex|Bcl3/NF-kappaB2 complex|nucleus|perinuclear region of cytoplasm protein binding, bridging|transcription factor binding kidney(1)|large_intestine(2)|lung(2)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1) 10 Lung NSC(12;0.000698)|all_lung(12;0.002) Ovarian(192;0.0728) GGCCGGTGCCCCCCTCCCCAG 0.667000 T IGH@ CLL 19 60 2.94398e-08 3.6513e-08 0.557998 1 0 BAGE2 85319 broad.mit.edu 37 21 11058353 11058353 + RNA SNP T T C rs79433933 by1000genomes TCGA-CN-6019-01A-11D-1683-08 TCGA-CN-6019-10A-01D-1683-08 Untested Somatic Phase_I WXS none Illumina GAIIx 00769a89-ffc5-46f5-a42e-25b3eae886c2 424fb678-3744-4165-b4b3-daffa0319990 g.chr21:11058353T>C ENST00000470054.1 - 0 324 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) GAAATCTCTTTATAAAACCTT 0.343000 8 102 0 0 0.278610 0 0 IRGC 56269 broad.mit.edu 37 19 44222644 44222644 + Splice_Site SNP G G A TCGA-CN-6019-01A-11D-1683-08 TCGA-CN-6019-10A-01D-1683-08 Untested Somatic Phase_I WXS none Illumina GAIIx 00769a89-ffc5-46f5-a42e-25b3eae886c2 424fb678-3744-4165-b4b3-daffa0319990 g.chr19:44222644G>A ENST00000244314.5 + 2 133 c.e2-1 NM_019612.3 NP_062558.1 Q6NXR0 IIGP5_HUMAN immunity-related GTPase family, cinema membrane GTP binding|hydrolase activity, acting on acid anhydrides central_nervous_system(1)|endometrium(1)|large_intestine(3)|lung(16)|ovary(1)|prostate(1)|skin(2) 25 Prostate(69;0.0435) CTCCTCTGCAGGCGCTGAGGA 0.627000 20 64 0 0 0.592651 0 0 RASGRF1 5923 broad.mit.edu 37 15 79350798 79350798 + Missense_Mutation SNP C C T rs150686548 TCGA-CN-6019-01A-11D-1683-08 TCGA-CN-6019-10A-01D-1683-08 Untested Somatic Phase_I WXS none Illumina GAIIx 00769a89-ffc5-46f5-a42e-25b3eae886c2 424fb678-3744-4165-b4b3-daffa0319990 g.chr15:79350798C>T ENST00000419573.3 - 3 683 c.409G>A c.(409-411)Gag>Aag p.E137K RASGRF1_ENST00000558480.2_Missense_Mutation_p.E137K|RASGRF1_ENST00000560334.1_5'UTR NM_002891.4 NP_002882.3 Q13972 RGRF1_HUMAN Ras protein-specific guanine nucleotide-releasing factor 1 137 activation of Rac GTPase activity|apoptosis|induction of apoptosis by extracellular signals|long-term memory|nerve growth factor receptor signaling pathway|neuron projection development|regulation of Rac protein signal transduction|small GTPase mediated signal transduction|synaptic transmission cytosol|growth cone|plasma membrane|synaptosome Rho guanyl-nucleotide exchange factor activity breast(2)|central_nervous_system(2)|endometrium(7)|kidney(4)|large_intestine(18)|lung(23)|ovary(2)|prostate(6)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1) 71 ATTAATGCCTCATGCTCTGTG 0.572000 5 45 0 0 0.278610 0 0 ST6GAL2 84620 broad.mit.edu 37 2 107459975 107459975 + Silent SNP G G A rs142520495 TCGA-CN-6019-01A-11D-1683-08 TCGA-CN-6019-10A-01D-1683-08 Untested Somatic Phase_I WXS none Illumina GAIIx 00769a89-ffc5-46f5-a42e-25b3eae886c2 424fb678-3744-4165-b4b3-daffa0319990 g.chr2:107459975G>A ENST00000409382.3 - 2 1069 c.459C>T c.(457-459)ccC>ccT p.P153P ST6GAL2_ENST00000361686.4_Silent_p.P153P|ST6GAL2_ENST00000409087.3_Silent_p.P153P NM_001142351.1 NP_001135823.1 Q96JF0 SIAT2_HUMAN ST6 beta-galactosamide alpha-2,6-sialyltranferase 2 153 growth|multicellular organismal development|oligosaccharide metabolic process|protein glycosylation Golgi cisterna membrane|integral to Golgi membrane beta-galactoside alpha-2,6-sialyltransferase activity p.P153P(1) autonomic_ganglia(1)|breast(1)|endometrium(2)|kidney(1)|large_intestine(8)|liver(1)|lung(30)|ovary(5)|pancreas(6)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2) 65 CTGGCTCCCCGGGGGAAGGGA 0.622000 16 252 0 0 0.500413 0 0 TF 7018 broad.mit.edu 37 3 133495987 133495987 + Missense_Mutation SNP G G A TCGA-CN-6019-01A-11D-1683-08 TCGA-CN-6019-10A-01D-1683-08 Untested Somatic Phase_I WXS none Illumina GAIIx 00769a89-ffc5-46f5-a42e-25b3eae886c2 424fb678-3744-4165-b4b3-daffa0319990 g.chr3:133495987G>A ENST00000402696.3 + 16 2452 c.1967G>A c.(1966-1968)tGt>tAt p.C656Y TF_ENST00000264998.3_Missense_Mutation_p.C529Y NM_001063.3 NP_001054.1 P02787 TRFE_HUMAN transferrin 656 Transferrin-like 2. cellular iron ion homeostasis|platelet activation|platelet degranulation|transferrin transport|transmembrane transport apical plasma membrane|basal plasma membrane|coated pit|early endosome|endocytic vesicle|endosome membrane|extracellular region|late endosome|perinuclear region of cytoplasm|recycling endosome|stored secretory granule ferric iron binding NS(1)|autonomic_ganglia(1)|breast(3)|endometrium(7)|large_intestine(13)|liver(2)|lung(16)|ovary(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1) 49 Aluminium(DB01370)|Bismuth(DB01402)|Iron Dextran(DB00893) GACACAGTATGTTTGGCCAAA 0.433000 5 75 0 0 0.217242 0 0 ACOX1 51 broad.mit.edu 37 17 73956445 73956445 + Missense_Mutation SNP C C T TCGA-CN-6019-01A-11D-1683-08 TCGA-CN-6019-10A-01D-1683-08 Untested Somatic Phase_I WXS none Illumina GAIIx 00769a89-ffc5-46f5-a42e-25b3eae886c2 424fb678-3744-4165-b4b3-daffa0319990 g.chr17:73956445C>T ENST00000537812.1 - 3 815 c.167G>A c.(166-168)cGa>cAa p.R56Q ACOX1_ENST00000591857.1_5'UTR|ACOX1_ENST00000301608.4_Intron|ACOX1_ENST00000293217.5_Missense_Mutation_p.R94Q NM_001185039.1 NP_001171968.1 Q15067 ACOX1_HUMAN acyl-CoA oxidase 1, palmitoyl 94 fatty acid beta-oxidation using acyl-CoA oxidase|generation of precursor metabolites and energy|prostaglandin metabolic process|very long-chain fatty acid metabolic process peroxisomal matrix acyl-CoA dehydrogenase activity|acyl-CoA oxidase activity|flavin adenine dinucleotide binding|protein N-terminus binding large_intestine(2)|lung(7)|ovary(2)|prostate(2)|skin(1) 14 AGGCCGCCCTCGGTGCACAAA 0.532000 5 20 0 0 0.217242 0 0 TRIM14 9830 broad.mit.edu 37 9 100862405 100862405 + Silent SNP G G A TCGA-CN-6019-01A-11D-1683-08 TCGA-CN-6019-10A-01D-1683-08 Untested Somatic Phase_I WXS none Illumina GAIIx 00769a89-ffc5-46f5-a42e-25b3eae886c2 424fb678-3744-4165-b4b3-daffa0319990 g.chr9:100862405G>A ENST00000341469.2 - 3 354 c.345C>T c.(343-345)ttC>ttT p.F115F TRIM14_ENST00000375098.3_Silent_p.F115F|TRIM14_ENST00000342043.3_Silent_p.F115F NM_014788.2 NP_055603.2 Q14142 TRI14_HUMAN tripartite motif containing 14 115 cytoplasm|intracellular zinc ion binding central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(2)|upper_aerodigestive_tract(1) 9 Acute lymphoblastic leukemia(62;0.0559) TGAGTTCAGTGAATTTCCCCT 0.438000 14 71 0 0 0.435327 0 0 ERCC6-PGBD3 101243544 broad.mit.edu 37 10 50724315 50724315 + Silent SNP G G A TCGA-CN-6019-01A-11D-1683-08 TCGA-CN-6019-10A-01D-1683-08 Untested Somatic Phase_I WXS none Illumina GAIIx 00769a89-ffc5-46f5-a42e-25b3eae886c2 424fb678-3744-4165-b4b3-daffa0319990 g.chr10:50724315G>A ENST00000515869.1 - 6 2370 c.2250C>T c.(2248-2250)tgC>tgT p.C750C ERCC6_ENST00000355832.5_Intron|PGBD3_ENST00000374127.3_Silent_p.C282C|PGBD3_ENST00000603152.1_Silent_p.C750C|ERCC6-PGBD3_ENST00000447839.2_Silent_p.C750C|PGBD3_ENST00000508005.2_Silent_p.C282C NM_001277059.1 NP_001263988.1 TAAATTGTTTGCACCCGTGAC 0.413000 7 30 0 0 0.278610 0 0 COL6A6 131873 broad.mit.edu 37 3 130283942 130283942 + Missense_Mutation SNP G G T TCGA-CN-6019-01A-11D-1683-08 TCGA-CN-6019-10A-01D-1683-08 Untested Somatic Phase_I WXS none Illumina GAIIx 00769a89-ffc5-46f5-a42e-25b3eae886c2 424fb678-3744-4165-b4b3-daffa0319990 g.chr3:130283942G>T ENST00000358511.6 + 3 797 c.766G>T c.(766-768)Gta>Tta p.V256L COL6A6_ENST00000453409.2_Missense_Mutation_p.V256L NM_001102608.1 NP_001096078.1 A6NMZ7 CO6A6_HUMAN collagen, type VI, alpha 6 256 Nonhelical region.|VWFA 2. axon guidance|cell adhesion collagen NS(2)|breast(5)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(30)|lung(57)|ovary(8)|pancreas(1)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(2) 134 GGAAGAAAGTGTATCTGCCCT 0.408000 32 181 1.08312e-15 1.44668e-15 0.740014 1 0 VPS52 6293 broad.mit.edu 37 6 33236966 33236966 + Splice_Site SNP G G A rs148755872 byFrequency TCGA-CN-6019-01A-11D-1683-08 TCGA-CN-6019-10A-01D-1683-08 Untested Somatic Phase_I WXS none Illumina GAIIx 00769a89-ffc5-46f5-a42e-25b3eae886c2 424fb678-3744-4165-b4b3-daffa0319990 g.chr6:33236966G>A ENST00000445902.2 - 6 591 c.372_splice c.e6-1 p.R125_splice VPS52_ENST00000436044.2_5'UTR|VPS52_ENST00000478934.1_5'UTR|VPS52_ENST00000482399.1_3'UTR NM_022553.4 NP_072047.4 Q8N1B4 VPS52_HUMAN vacuolar protein sorting 52 homolog (S. cerevisiae) 125 protein transport endosome membrane|Golgi apparatus endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|liver(1)|lung(8)|ovary(4)|skin(1)|upper_aerodigestive_tract(1) 28 TGCTCCATTCGCTGTAGGGAG 0.498000 7 99 0 0 0.248553 0 0 SPATC1 375686 broad.mit.edu 37 8 145095233 145095233 + Missense_Mutation SNP A A T TCGA-CN-6019-01A-11D-1683-08 TCGA-CN-6019-10A-01D-1683-08 Untested Somatic Phase_I WXS none Illumina GAIIx 00769a89-ffc5-46f5-a42e-25b3eae886c2 424fb678-3744-4165-b4b3-daffa0319990 g.chr8:145095233A>T ENST00000377470.3 + 2 737 c.635A>T c.(634-636)aAc>aTc p.N212I SPATC1_ENST00000447830.2_Missense_Mutation_p.N212I NM_198572.2 NP_940974.2 Q76KD6 SPERI_HUMAN spermatogenesis and centriole associated 1 212 NS(1)|central_nervous_system(1)|kidney(1)|large_intestine(1)|lung(8)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1) 15 all_cancers(97;8.2e-11)|all_epithelial(106;1.1e-09)|Lung NSC(106;5.89e-05)|all_lung(105;0.000174)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155) OV - Ovarian serous cystadenocarcinoma(54;6.79e-41)|Epithelial(56;1.02e-39)|all cancers(56;3.67e-35)|Colorectal(110;0.055)|BRCA - Breast invasive adenocarcinoma(115;0.105) GTCTCTCAGAACCTGCTGGCC 0.687000 5 56 0 0 0.184627 0 0 GPR149 344758 broad.mit.edu 37 3 154138953 154138953 + Missense_Mutation SNP T T C TCGA-CN-6019-01A-11D-1683-08 TCGA-CN-6019-10A-01D-1683-08 Untested Somatic Phase_I WXS none Illumina GAIIx 00769a89-ffc5-46f5-a42e-25b3eae886c2 424fb678-3744-4165-b4b3-daffa0319990 g.chr3:154138953T>C ENST00000389740.2 - 3 1597 c.1498A>G c.(1498-1500)Att>Gtt p.I500V NM_001038705.1 NP_001033794.1 Q86SP6 GP149_HUMAN G protein-coupled receptor 149 500 integral to membrane|plasma membrane G-protein coupled receptor activity autonomic_ganglia(1)|breast(1)|endometrium(4)|kidney(2)|large_intestine(6)|lung(22)|ovary(7)|prostate(1)|skin(1)|urinary_tract(2) 47 LUSC - Lung squamous cell carcinoma(72;0.114)|Lung(72;0.173) TCATAGTTAATATCACCTCCT 0.398000 35 201 0 0 0.812448 0 0 PAX4 5078 broad.mit.edu 37 7 127251714 127251714 + Missense_Mutation SNP A A G TCGA-CN-6019-01A-11D-1683-08 TCGA-CN-6019-10A-01D-1683-08 Untested Somatic Phase_I WXS none Illumina GAIIx 00769a89-ffc5-46f5-a42e-25b3eae886c2 424fb678-3744-4165-b4b3-daffa0319990 g.chr7:127251714A>G ENST00000341640.2 - 8 969 c.764T>C c.(763-765)gTg>gCg p.V255A PAX4_ENST00000378740.2_Missense_Mutation_p.V255A|PAX4_ENST00000338516.3_Silent_p.C244C|PAX4_ENST00000463946.1_Missense_Mutation_p.V253A NM_006193.2 NP_006184.2 O43316 PAX4_HUMAN paired box 4 263 cell differentiation|endocrine pancreas development|organ morphogenesis nucleus sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity cervix(1)|kidney(2)|large_intestine(6)|lung(20)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 35 TGCTGTGGGCACACTGCCAGG 0.582000 15 71 0 0 0.479597 0 0 CHIC2 26511 broad.mit.edu 37 4 54915177 54915177 + Missense_Mutation SNP C C A TCGA-CN-6019-01A-11D-1683-08 TCGA-CN-6019-10A-01D-1683-08 Untested Somatic Phase_I WXS none Illumina GAIIx 00769a89-ffc5-46f5-a42e-25b3eae886c2 424fb678-3744-4165-b4b3-daffa0319990 g.chr4:54915177C>A ENST00000263921.3 - 3 664 c.275G>T c.(274-276)tGt>tTt p.C92F FIP1L1_ENST00000507166.1_Intron|CHIC2_ENST00000512964.1_Missense_Mutation_p.C92F NM_012110.3 NP_036242.1 Q9UKJ5 CHIC2_HUMAN cysteine-rich hydrophobic domain 2 92 plasma membrane protein binding breast(1)|central_nervous_system(1)|large_intestine(1)|lung(1) 4 all_cancers(7;0.0193)|all_neural(26;0.0209)|Lung NSC(11;0.0281)|Glioma(25;0.08) LUSC - Lung squamous cell carcinoma(32;0.00216) GCAGCAGCAACAAAGGCAGCC 0.373000 T ETV6 AML 5 11 0.000602214 0.000668738 0.184627 1 0 OLFM3 118427 broad.mit.edu 37 1 102270200 102270200 + Missense_Mutation SNP A A G TCGA-CN-6019-01A-11D-1683-08 TCGA-CN-6019-10A-01D-1683-08 Untested Somatic Phase_I WXS none Illumina GAIIx 00769a89-ffc5-46f5-a42e-25b3eae886c2 424fb678-3744-4165-b4b3-daffa0319990 g.chr1:102270200A>G ENST00000370103.4 - 6 1184 c.971T>C c.(970-972)tTc>tCc p.F324S OLFM3_ENST00000338858.5_Missense_Mutation_p.F344S|OLFM3_ENST00000536598.1_3'UTR|OLFM3_ENST00000462354.1_5'UTR NM_058170.2 NP_477518.2 Q96PB7 NOE3_HUMAN olfactomedin 3 344 Olfactomedin-like. extracellular region breast(1)|endometrium(1)|kidney(1)|large_intestine(8)|lung(24)|ovary(3)|prostate(1)|skin(1)|soft_tissue(1)|upper_aerodigestive_tract(2) 43 all_epithelial(167;1.87e-06)|all_lung(203;8.12e-05)|Lung NSC(277;0.000189) all cancers(265;0.0843)|Epithelial(280;0.0921)|COAD - Colon adenocarcinoma(174;0.145) GATGTCAGAGAATCCACCCCA 0.453000 13 37 0 0 0.411799 0 0 RP11-435B5.5 0 broad.mit.edu 37 1 143391923 143391924 + RNA DEL AT AT - TCGA-CN-6019-01A-11D-1683-08 TCGA-CN-6019-10A-01D-1683-08 Untested Somatic Phase_I WXS none Illumina GAIIx 00769a89-ffc5-46f5-a42e-25b3eae886c2 424fb678-3744-4165-b4b3-daffa0319990 g.chr1:143391923_143391924delAT ENST00000428624.1 + 0 2065 RP11-435B5.4_ENST00000423249.1_lincRNA TATTTTGGAGATATATATATAT 0.262 3 4 --- --- --- --- CNTN6 27255 broad.mit.edu 37 3 1363354 1363355 + Frame_Shift_Ins INS - - GA TCGA-CN-6019-01A-11D-1683-08 TCGA-CN-6019-10A-01D-1683-08 Untested Somatic Phase_I WXS none Illumina GAIIx 00769a89-ffc5-46f5-a42e-25b3eae886c2 424fb678-3744-4165-b4b3-daffa0319990 g.chr3:1363354_1363355insGA ENST00000446702.2 + 8 1409_1410 c.782_783insGA c.(781-783)tagfs p.*261fs CNTN6_ENST00000539053.1_Frame_Shift_Ins_p.*189fs|CNTN6_ENST00000350110.2_Frame_Shift_Ins_p.*261fs Q9UQ52 CNTN6_HUMAN contactin 6 261 Ig-like C2-type 3. axon guidance|cell adhesion|central nervous system development|Notch signaling pathway anchored to membrane|plasma membrane breast(6)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(25)|lung(34)|ovary(1)|pancreas(1)|prostate(3)|skin(3)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(2) 90 all_cancers(2;0.000164)|all_epithelial(2;0.107) Epithelial(13;0.000233)|all cancers(10;0.0013)|OV - Ovarian serous cystadenocarcinoma(96;0.0139) GATATTAGTTGGAGAAGGTTGG 0.416 20 124 --- --- --- --- LPA 4018 broad.mit.edu 37 6 161027646 161027647 + Frame_Shift_Ins INS - - C TCGA-CN-6019-01A-11D-1683-08 TCGA-CN-6019-10A-01D-1683-08 Untested Somatic Phase_I WXS none Illumina GAIIx 00769a89-ffc5-46f5-a42e-25b3eae886c2 424fb678-3744-4165-b4b3-daffa0319990 g.chr6:161027646_161027647insC ENST00000447678.1 - 18 2767_2768 c.2647_2648insG c.(2647-2649)cccfs p.P883fs LPA_ENST00000316300.5_Frame_Shift_Ins_p.P883fs NM_005577.2 NP_005568.2 P08519 APOA_HUMAN lipoprotein, Lp(a) 3391 Kringle 8. blood circulation|lipid metabolic process|lipid transport|lipoprotein metabolic process|proteolysis|receptor-mediated endocytosis plasma lipoprotein particle apolipoprotein binding|endopeptidase inhibitor activity|fibronectin binding|heparin binding|serine-type endopeptidase activity NS(1)|breast(3)|central_nervous_system(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(16)|lung(54)|ovary(4)|pancreas(1)|prostate(2)|skin(10)|stomach(1)|urinary_tract(1) 107 Breast(66;0.000496)|Ovarian(120;0.0303)|Prostate(117;0.0965) OV - Ovarian serous cystadenocarcinoma(65;2.5e-17)|BRCA - Breast invasive adenocarcinoma(81;6.48e-06) Aminocaproic Acid(DB00513) ACAATAAGGGGCTGCCACAGGA 0.525 9 168 --- --- --- --- ZNF7 7553 broad.mit.edu 37 8 146054833 146054834 + In_Frame_Ins INS - - TCC TCGA-CN-6019-01A-11D-1683-08 TCGA-CN-6019-10A-01D-1683-08 Untested Somatic Phase_I WXS none Illumina GAIIx 00769a89-ffc5-46f5-a42e-25b3eae886c2 424fb678-3744-4165-b4b3-daffa0319990 g.chr8:146054833_146054834insTCC ENST00000446747.2 + 3 103_104 c.7_8insTCC c.(7-9)cct>TCCcct p.2_3insS ZNF7_ENST00000325241.6_Intron|ZNF7_ENST00000525266.1_Intron|ZNF7_ENST00000532393.1_Intron|ZNF7_ENST00000544249.1_Intron|ZNF7_ENST00000528372.1_Intron|ZNF7_ENST00000529819.1_Intron|ZNF7_ENST00000528130.1_Intron|ZNF7_ENST00000325217.5_In_Frame_Ins_p.2_3insS P17097 ZNF7_HUMAN zinc finger protein 7 0 multicellular organismal development|regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding endometrium(2)|kidney(1)|large_intestine(7)|lung(6)|ovary(5)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 25 all_cancers(97;1.03e-11)|all_epithelial(106;6.69e-11)|Lung NSC(106;4.08e-05)|all_lung(105;0.000125)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155) Breast(495;0.0812)|Ovarian(118;0.0822)|Acute lymphoblastic leukemia(644;0.143) Epithelial(56;8.75e-39)|OV - Ovarian serous cystadenocarcinoma(54;1.13e-38)|all cancers(56;8.48e-34)|BRCA - Breast invasive adenocarcinoma(115;0.0355)|Colorectal(110;0.055) GBM - Glioblastoma multiforme(99;2.11e-07) CACCCAGGGATTCCTGGGGTGC 0.624 45 258 --- --- --- --- CDKN2A 1029 broad.mit.edu 37 9 21974764 21974775 + In_Frame_Del DEL GGCCGCGGCCGT GGCCGCGGCCGT - TCGA-CN-6019-01A-11D-1683-08 TCGA-CN-6019-10A-01D-1683-08 Untested Somatic Phase_I WXS none Illumina GAIIx 00769a89-ffc5-46f5-a42e-25b3eae886c2 424fb678-3744-4165-b4b3-daffa0319990 g.chr9:21974764_21974775delGGCCGCGGCCGT ENST00000304494.5 - 1 322_333 c.52_63delACGGCCGCGGCC c.(52-63)del p.TAAA18del CDKN2A_ENST00000498628.2_Intron|CDKN2A_ENST00000579122.1_In_Frame_Del_p.TAAA18del|CDKN2A_ENST00000579755.1_Intron|RP11-145E5.5_ENST00000404796.2_Intron|CDKN2A_ENST00000530628.2_Intron|CDKN2A_ENST00000494262.1_Intron|CDKN2A_ENST00000446177.1_In_Frame_Del_p.TAAA18del|CDKN2A_ENST00000498124.1_In_Frame_Del_p.TAAA18del|CDKN2A_ENST00000361570.3_Intron NM_000077.4 NP_000068.1 P42771 CD2A1_HUMAN cyclin-dependent kinase inhibitor 2A 18 cell cycle arrest|cell cycle checkpoint|G1 phase of mitotic cell cycle|G1/S transition of mitotic cell cycle|induction of apoptosis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of cell-matrix adhesion|negative regulation of cyclin-dependent protein kinase activity|negative regulation of NF-kappaB transcription factor activity|positive regulation of macrophage apoptosis|positive regulation of smooth muscle cell apoptosis|Ras protein signal transduction|replicative senescence cytosol|nucleus cyclin-dependent protein kinase inhibitor activity|NF-kappaB binding|protein binding|protein kinase binding p.0?(1315)|p.?(23)|p.A20P(3)|p.A19_A20insTA(3)|p.A21D(2)|p.A20A(2)|p.T18P(2)|p.A20T(2)|p.S12fs*6(1)|p.A20E(1)|p.0(1)|p.S12fs*20(1)|p.A17fs*5(1)|p.A20fs*26(1)|p.R22fs*14(1)|p.S7_A19del(1)|p.A20fs*6(1)|p.T18M(1)|p.A20_A21del(1)|p.A20S(1) NS(28)|adrenal_gland(6)|autonomic_ganglia(11)|biliary_tract(74)|bone(84)|breast(46)|central_nervous_system(522)|cervix(23)|endometrium(14)|eye(4)|genital_tract(15)|haematopoietic_and_lymphoid_tissue(698)|kidney(39)|large_intestine(11)|liver(92)|lung(365)|meninges(18)|oesophagus(239)|ovary(98)|pancreas(263)|pleura(94)|prostate(13)|salivary_gland(10)|skin(541)|small_intestine(1)|soft_tissue(93)|stomach(48)|thymus(4)|thyroid(24)|upper_aerodigestive_tract(436)|urinary_tract(283)|vulva(2) 4199 all_cancers(5;0)|Acute lymphoblastic leukemia(3;0)|all_hematologic(3;0)|all_epithelial(2;2.37e-290)|Lung NSC(2;1.26e-139)|all_lung(2;4.48e-131)|Glioma(2;3.26e-60)|all_neural(2;2.1e-52)|Renal(3;1.07e-46)|Esophageal squamous(3;3.83e-46)|Melanoma(2;2.74e-34)|Breast(3;1.14e-11)|Ovarian(3;0.000128)|Hepatocellular(5;0.00162)|Colorectal(97;0.172) all cancers(2;0)|GBM - Glioblastoma multiforme(3;0)|Lung(2;4.07e-74)|Epithelial(2;1.08e-61)|LUSC - Lung squamous cell carcinoma(2;3.82e-48)|LUAD - Lung adenocarcinoma(2;4.56e-26)|OV - Ovarian serous cystadenocarcinoma(39;7.64e-10)|BRCA - Breast invasive adenocarcinoma(2;5.01e-09)|STAD - Stomach adenocarcinoma(4;4.63e-07)|Kidney(2;5.79e-07)|KIRC - Kidney renal clear cell carcinoma(2;7.27e-07)|COAD - Colon adenocarcinoma(8;5.15e-05) CCCGACCCCGGGCCGCGGCCGTGGCCAGCCAG 0.745 17 HNSCC(2;<9.43e_08)|TSP Lung(5;3.83e-07) 7 48 --- --- --- --- RUSC2 9853 broad.mit.edu 37 9 35555308 35555309 + Frame_Shift_Ins INS - - G TCGA-CN-6019-01A-11D-1683-08 TCGA-CN-6019-10A-01D-1683-08 Untested Somatic Phase_I WXS none Illumina GAIIx 00769a89-ffc5-46f5-a42e-25b3eae886c2 424fb678-3744-4165-b4b3-daffa0319990 g.chr9:35555308_35555309insG ENST00000455600.1 + 3 2835_2836 c.2266_2267insG c.(2266-2268)agcfs p.S756fs NM_001135999.1 NP_001129471.1 Q8N2Y8 RUSC2_HUMAN RUN and SH3 domain containing 2 756 cytosol NS(1)|breast(3)|endometrium(4)|kidney(1)|large_intestine(9)|lung(4)|ovary(2)|prostate(4)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 32 Lung(28;0.000837)|LUSC - Lung squamous cell carcinoma(32;0.00109)|STAD - Stomach adenocarcinoma(86;0.194) ATCCACTCCCCGAGCCACTGGC 0.663 9 65 --- --- --- --- KRTAP5-5 439915 broad.mit.edu 37 11 1651199 1651228 + In_Frame_Del DEL AGGCTGTGGGGGCTGTGGCTCCGGCTGTGC AGGCTGTGGGGGCTGTGGCTCCGGCTGTGC - rs35089393 by1000genomes TCGA-CN-6019-01A-11D-1683-08 TCGA-CN-6019-10A-01D-1683-08 Untested Somatic Phase_I WXS none Illumina GAIIx 00769a89-ffc5-46f5-a42e-25b3eae886c2 424fb678-3744-4165-b4b3-daffa0319990 g.chr11:1651199_1651228delAGGCTGTGGGGGCTGTGGCTCCGGCTGTGC ENST00000399676.2 + 1 167_196 c.129_158delAGGCTGTGGGGGCTGTGGCTCCGGCTGTGC c.(127-159)ggg>gg p.GGCGGCGSGCA43del NM_001001480.2 NP_001001480.2 Q701N2 KRA55_HUMAN keratin associated protein 5-5 43 G -> GGCGS (in Ref. 1; BAD20201 and 2; CAF31639). keratin filament endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(17)|ovary(2)|prostate(5)|urinary_tract(1) 33 all_epithelial(84;0.00018)|Ovarian(85;0.0014)|Breast(177;0.00147)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.229) BRCA - Breast invasive adenocarcinoma(625;0.000614)|Lung(200;0.0681)|LUSC - Lung squamous cell carcinoma(625;0.082) ccggctgtggaggctgtgggggctgtggctccggctgtgcgggctgtggg 0.691 25 7 --- --- --- --- ALDH1L2 160428 broad.mit.edu 37 12 105434423 105434423 + Frame_Shift_Del DEL C C - TCGA-CN-6019-01A-11D-1683-08 TCGA-CN-6019-10A-01D-1683-08 Untested Somatic Phase_I WXS none Illumina GAIIx 00769a89-ffc5-46f5-a42e-25b3eae886c2 424fb678-3744-4165-b4b3-daffa0319990 g.chr12:105434423delC ENST00000258494.9 - 16 2053 c.1913delG c.(1912-1914)gcfs p.G638fs C12orf45_ENST00000548583.1_Intron NM_001034173.3 NP_001029345.2 Q3SY69 AL1L2_HUMAN aldehyde dehydrogenase 1 family, member L2 638 Aldehyde dehydrogenase. 10-formyltetrahydrofolate catabolic process|biosynthetic process mitochondrion acyl carrier activity|cofactor binding|formyltetrahydrofolate dehydrogenase activity|hydroxymethyl-, formyl- and related transferase activity|methyltransferase activity|phosphopantetheine binding breast(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(13)|prostate(2)|skin(3)|stomach(2) 35 CTTTGGAAAGCCTGCTTTCAC 0.483 36 420 --- --- --- --- SNHG14 104472715 broad.mit.edu 37 15 25465467 25465469 + RNA DEL GAA GAA - TCGA-CN-6019-01A-11D-1683-08 TCGA-CN-6019-10A-01D-1683-08 Untested Somatic Phase_I WXS none Illumina GAIIx 00769a89-ffc5-46f5-a42e-25b3eae886c2 424fb678-3744-4165-b4b3-daffa0319990 g.chr15:25465467_25465469delGAA ENST00000424208.1 + 0 3039 SNHG14_ENST00000453082.2_RNA NR_003305.1 TGGTGAGACCGAAGAAGACTTGC 0.581 3 4 --- --- --- --- WDR72 256764 broad.mit.edu 37 15 53889325 53889325 + Frame_Shift_Del DEL C C - TCGA-CN-6019-01A-11D-1683-08 TCGA-CN-6019-10A-01D-1683-08 Untested Somatic Phase_I WXS none Illumina GAIIx 00769a89-ffc5-46f5-a42e-25b3eae886c2 424fb678-3744-4165-b4b3-daffa0319990 g.chr15:53889325delC ENST00000396328.1 - 18 3338 c.3099delG c.(3097-3099)tgfs p.W1033fs WDR72_ENST00000557913.1_Frame_Shift_Del_p.W1030fs|WDR72_ENST00000360509.5_Frame_Shift_Del_p.W1033fs|WDR72_ENST00000559418.1_Frame_Shift_Del_p.W1043fs NM_001277176.1|NM_182758.2 NP_001264105.1|NP_877435.3 Q3MJ13 WDR72_HUMAN WD repeat domain 72 1033 NS(1)|breast(1)|endometrium(4)|kidney(4)|large_intestine(18)|lung(29)|prostate(3)|skin(6)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2) 71 all cancers(107;0.0511) GTTCTTCTGTCCATTCCAGCT 0.393 40 231 --- --- --- --- SLC38A10 124565 broad.mit.edu 37 17 79220027 79220028 + Frame_Shift_Ins INS - - C rs35020977 TCGA-CN-6019-01A-11D-1683-08 TCGA-CN-6019-10A-01D-1683-08 Untested Somatic Phase_I WXS none Illumina GAIIx 00769a89-ffc5-46f5-a42e-25b3eae886c2 424fb678-3744-4165-b4b3-daffa0319990 g.chr17:79220027_79220028insC ENST00000374759.3 - 16 3071_3072 c.2688_2689insG c.(2686-2691)ggaggafs p.G897fs NM_001037984.1 NP_001033073.1 Q9HBR0 S38AA_HUMAN solute carrier family 38, member 10 897 amino acid transport|sodium ion transport integral to membrane NS(1)|breast(2)|endometrium(4)|kidney(2)|large_intestine(2)|lung(7)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 23 all_neural(118;0.0804)|Melanoma(429;0.242) BRCA - Breast invasive adenocarcinoma(99;0.0272)|OV - Ovarian serous cystadenocarcinoma(97;0.117) GCCACCTCCTTCCCAGGTTTTT 0.634 8 168 --- --- --- --- NPHS1 4868 broad.mit.edu 37 19 36330419 36330420 + Frame_Shift_Ins INS - - G TCGA-CN-6019-01A-11D-1683-08 TCGA-CN-6019-10A-01D-1683-08 Untested Somatic Phase_I WXS none Illumina GAIIx 00769a89-ffc5-46f5-a42e-25b3eae886c2 424fb678-3744-4165-b4b3-daffa0319990 g.chr19:36330419_36330420insG ENST00000378910.5 - 21 2904_2905 c.2905_2906insC c.(2905-2907)gccfs p.A969fs NPHS1_ENST00000353632.6_Frame_Shift_Ins_p.A969fs NM_004646.3 NP_004637.1 O60500 NPHN_HUMAN nephrosis 1, congenital, Finnish type (nephrin) 969 Fibronectin type-III. cell adhesion|excretion|muscle organ development integral to plasma membrane NS(2)|breast(1)|cervix(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(16)|liver(1)|lung(26)|ovary(5)|prostate(1)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(1) 74 all_lung(56;7.14e-07)|Lung NSC(56;1.12e-06)|Esophageal squamous(110;0.162) LUSC - Lung squamous cell carcinoma(66;0.0515) CCTCTGTGGCAGGCCCCCATCA 0.594 15 116 --- --- --- --- ZNF132 7691 broad.mit.edu 37 19 58945525 58945526 + Frame_Shift_Ins INS - - T TCGA-CN-6019-01A-11D-1683-08 TCGA-CN-6019-10A-01D-1683-08 Untested Somatic Phase_I WXS none Illumina GAIIx 00769a89-ffc5-46f5-a42e-25b3eae886c2 424fb678-3744-4165-b4b3-daffa0319990 g.chr19:58945525_58945526insT ENST00000254166.3 - 3 1685_1686 c.1285_1286insA c.(1285-1287)accfs p.T429fs NM_003433.3 NP_003424.3 P52740 ZN132_HUMAN zinc finger protein 132 429 nucleus DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding NS(2)|endometrium(2)|kidney(2)|large_intestine(6)|lung(1)|ovary(2)|pancreas(1)|skin(2)|upper_aerodigestive_tract(1) 19 all_cancers(17;4.4e-22)|all_epithelial(17;2.15e-16)|Lung NSC(17;1.24e-06)|all_lung(17;5.41e-06)|Colorectal(82;3.46e-05)|Renal(17;0.00179)|all_neural(62;0.00607)|Ovarian(87;0.0443)|Breast(46;0.0928)|Medulloblastoma(540;0.184) UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0171)|Lung(386;0.182) TTCATACGGTCTTTCTCCAGTG 0.465 9 95 --- --- --- --- HMGXB4 10042 broad.mit.edu 37 22 35689036 35689037 + Frame_Shift_Del DEL TG TG - TCGA-CN-6019-01A-11D-1683-08 TCGA-CN-6019-10A-01D-1683-08 Untested Somatic Phase_I WXS none Illumina GAIIx 00769a89-ffc5-46f5-a42e-25b3eae886c2 424fb678-3744-4165-b4b3-daffa0319990 g.chr22:35689036_35689037delTG ENST00000216106.5 + 10 1818_1819 c.1690_1691delTG c.(1690-1692)tfs p.C564fs HMGXB4_ENST00000444518.2_Frame_Shift_Del_p.C455fs NM_001003681.2 NP_001003681.1 Q9UGU5 HMGX4_HUMAN HMG box domain containing 4 564 endosome to lysosome transport|negative regulation of Wnt receptor signaling pathway|Wnt receptor signaling pathway NURF complex DNA binding breast(1)|endometrium(1)|large_intestine(6)|liver(1)|lung(4)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1) 19 TTCCATTATCTGTGCCCTTGGC 0.490 12 76 --- --- --- ---