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 ONECUT1 3175 broad.mit.edu 37 15 53081647 53081647 + Silent SNP C C T TCGA-F2-A8YN-01A-11D-A377-08 TCGA-F2-A8YN-10A-01D-A37A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3481a872-1f51-4fdd-95ec-c3ad9ffc9040 eacf769d-bf42-4c1a-854a-a966923cf00b g.chr15:53081647C>T ENST00000305901.5 - 1 562 c.435G>A c.(433-435)gtG>gtA p.V145V ONECUT1_ENST00000561401.2_Intron NM_004498.2 NP_004489.1 Q9UBC0 HNF6_HUMAN one cut homeobox 1 145 endocrine pancreas development nucleus RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription|sequence-specific DNA binding endometrium(2)|kidney(1)|large_intestine(3)|lung(8)|prostate(2)|skin(1) 17 all cancers(107;0.0708) AGCTACCGCTCACGTTGCCCG 0.642000 30 169 0 0 1 0 0 SLMO2 51012 broad.mit.edu 37 20 57613612 57613612 + Missense_Mutation SNP T T A TCGA-F2-A8YN-01A-11D-A377-08 TCGA-F2-A8YN-10A-01D-A37A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3481a872-1f51-4fdd-95ec-c3ad9ffc9040 eacf769d-bf42-4c1a-854a-a966923cf00b g.chr20:57613612T>A ENST00000355937.4 - 2 288 c.110A>T c.(109-111)gAt>gTt p.D37V SLMO2_ENST00000371033.5_Missense_Mutation_p.D37V NM_016045.2 NP_057129.2 Q9Y3B1 SLMO2_HUMAN slowmo homolog 2 (Drosophila) 37 PRELI/MSF1. endometrium(1)|lung(2)|skin(2) 5 all_lung(29;0.00711) Colorectal(105;0.109) GTCCAACACATCAACTCCAAC 0.478000 211 477 0 0 1 0 0 LINS 55180 broad.mit.edu 37 15 101115212 101115212 + Missense_Mutation SNP T T C TCGA-F2-A8YN-01A-11D-A377-08 TCGA-F2-A8YN-10A-01D-A37A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3481a872-1f51-4fdd-95ec-c3ad9ffc9040 eacf769d-bf42-4c1a-854a-a966923cf00b g.chr15:101115212T>C ENST00000314742.8 - 4 833 c.611A>G c.(610-612)gAt>gGt p.D204G LINS_ENST00000560133.1_Missense_Mutation_p.D85G|LINS_ENST00000561308.1_Missense_Mutation_p.D204G|LINS_ENST00000559149.1_5'UTR NM_001040616.2 NP_001035706.1 Q8NG48 LINES_HUMAN lines homolog (Drosophila) 204 central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(3)|ovary(1)|prostate(1)|skin(1)|stomach(4) 21 TGAACATGAATCTTTAAAGAT 0.338000 56 402 0 0 1 0 0 FOLH1B 219595 broad.mit.edu 37 11 89395333 89395333 + RNA SNP A A G TCGA-F2-A8YN-01A-11D-A377-08 TCGA-F2-A8YN-10A-01D-A37A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3481a872-1f51-4fdd-95ec-c3ad9ffc9040 eacf769d-bf42-4c1a-854a-a966923cf00b g.chr11:89395333A>G ENST00000532352.1 + 0 731 Q9HBA9 FOH1B_HUMAN folate hydrolase 1B proteolysis cytoplasm dipeptidase activity|metal ion binding|metallopeptidase activity breast(1)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(7)|lung(26)|ovary(4)|skin(4)|urinary_tract(2) 48 GCTTATAGGCATGGAATTGCA 0.348000 6 227 0 0 1 0 0 MYO18B 84700 broad.mit.edu 37 22 26164808 26164808 + Missense_Mutation SNP G G T TCGA-F2-A8YN-01A-11D-A377-08 TCGA-F2-A8YN-10A-01D-A37A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3481a872-1f51-4fdd-95ec-c3ad9ffc9040 eacf769d-bf42-4c1a-854a-a966923cf00b g.chr22:26164808G>T ENST00000335473.7 + 4 1175 c.925G>T c.(925-927)Gta>Tta p.V309L MYO18B_ENST00000407587.2_Missense_Mutation_p.V309L|MYO18B_ENST00000536101.1_Missense_Mutation_p.V309L NM_032608.5 NP_115997.5 Q8IUG5 MY18B_HUMAN myosin XVIIIB 309 nucleus|sarcomere|unconventional myosin complex actin binding|ATP binding|motor activity 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 AGGGAAGCACGTAAGGCCCCA 0.557000 25 44 9.86323e-18 1.04306e-17 1 1 0 LAMA4 3910 broad.mit.edu 37 6 112460431 112460431 + Missense_Mutation SNP G G A TCGA-F2-A8YN-01A-11D-A377-08 TCGA-F2-A8YN-10A-01D-A37A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3481a872-1f51-4fdd-95ec-c3ad9ffc9040 eacf769d-bf42-4c1a-854a-a966923cf00b g.chr6:112460431G>A ENST00000230538.7 - 24 3570 c.3173C>T c.(3172-3174)gCc>gTc p.A1058V LAMA4_ENST00000424408.2_Missense_Mutation_p.A1051V|LAMA4_ENST00000522006.1_Missense_Mutation_p.A1051V|LAMA4_ENST00000389463.4_Missense_Mutation_p.A1051V NM_001105206.2 NP_001098676.2 Q16363 LAMA4_HUMAN laminin, alpha 4 1058 Laminin G-like 2. cell adhesion|regulation of cell adhesion|regulation of cell migration|regulation of embryonic development laminin-1 complex extracellular matrix structural constituent|receptor binding NS(1)|breast(6)|central_nervous_system(2)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(18)|lung(42)|ovary(4)|pancreas(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(8) 100 all_cancers(87;0.000196)|all_hematologic(75;0.000114)|all_epithelial(87;0.00542)|Colorectal(196;0.0209) all cancers(137;0.0335)|OV - Ovarian serous cystadenocarcinoma(136;0.0578)|Epithelial(106;0.0748)|BRCA - Breast invasive adenocarcinoma(108;0.242) TCTCACCACGGCATAACCGGA 0.488000 5 395 0 0 1 0 0 NR1H2 7376 broad.mit.edu 37 19 50881485 50881485 + Silent SNP C C T TCGA-F2-A8YN-01A-11D-A377-08 TCGA-F2-A8YN-10A-01D-A37A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3481a872-1f51-4fdd-95ec-c3ad9ffc9040 eacf769d-bf42-4c1a-854a-a966923cf00b g.chr19:50881485C>T ENST00000253727.5 + 5 496 c.261C>T c.(259-261)tgC>tgT p.C87C NR1H2_ENST00000593926.1_Silent_p.C87C|NR1H2_ENST00000411902.2_Intron|NR1H2_ENST00000599105.1_Silent_p.C87C|NR1H2_ENST00000598168.1_Silent_p.C87C|NR1H2_ENST00000542413.1_5'UTR NM_007121.5 NP_009052.3 P55055 NR1H2_HUMAN nuclear receptor subfamily 1, group H, member 2 87 negative regulation of cholesterol storage|negative regulation of interferon-gamma-mediated signaling pathway|negative regulation of lipid transport|negative regulation of pinocytosis|negative regulation of transcription, DNA-dependent|positive regulation of cellular protein metabolic process|positive regulation of cholesterol efflux|positive regulation of fatty acid biosynthetic process|positive regulation of lipoprotein lipase activity|positive regulation of transcription from RNA polymerase II promoter|positive regulation of triglyceride biosynthetic process|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor cytoplasm|nucleoplasm sequence-specific DNA binding|steroid hormone receptor activity|zinc ion binding endometrium(2)|large_intestine(1)|lung(3)|upper_aerodigestive_tract(2) 8 all_neural(266;0.057) OV - Ovarian serous cystadenocarcinoma(262;0.00757)|GBM - Glioblastoma multiforme(134;0.0186) ACGAGCTTTGCCGTGTCTGTG 0.637000 7 1178 0 0 1 0 0 CSPP1 79848 broad.mit.edu 37 8 68015300 68015300 + Missense_Mutation SNP C C T TCGA-F2-A8YN-01A-11D-A377-08 TCGA-F2-A8YN-10A-01D-A37A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3481a872-1f51-4fdd-95ec-c3ad9ffc9040 eacf769d-bf42-4c1a-854a-a966923cf00b g.chr8:68015300C>T ENST00000262210.5 + 7 1010 c.979C>T c.(979-981)Cct>Tct p.P327S CSPP1_ENST00000412460.1_Missense_Mutation_p.P33S NM_024790.6 NP_079066.5 Q1MSJ5 CSPP1_HUMAN centrosome and spindle pole associated protein 1 362 centrosome|microtubule|spindle NS(1)|breast(3)|endometrium(4)|kidney(3)|large_intestine(11)|lung(17)|ovary(5)|prostate(3)|skin(1)|urinary_tract(1) 49 Breast(64;0.214) Lung NSC(129;0.0908)|all_lung(136;0.152) Epithelial(68;0.00145)|OV - Ovarian serous cystadenocarcinoma(28;0.00589)|all cancers(69;0.0069)|BRCA - Breast invasive adenocarcinoma(89;0.153) AGGGAATATGCCTCCTATGGA 0.348000 4 232 0 0 1 0 0 TBC1D2B 23102 broad.mit.edu 37 15 78290635 78290635 + Missense_Mutation SNP C C T rs117285325 by1000genomes TCGA-F2-A8YN-01A-11D-A377-08 TCGA-F2-A8YN-10A-01D-A37A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3481a872-1f51-4fdd-95ec-c3ad9ffc9040 eacf769d-bf42-4c1a-854a-a966923cf00b g.chr15:78290635C>T ENST00000409931.3 - 13 2778 c.2707G>A c.(2707-2709)Gac>Aac p.D903N TBC1D2B_ENST00000492078.1_5'UTR|TBC1D2B_ENST00000300584.3_Missense_Mutation_p.R920Q Q9UPU7 TBD2B_HUMAN TBC1 domain family, member 2B 0 intracellular protein binding|Rab GTPase activator activity p.D903N(3)|p.R920Q(1) breast(3)|cervix(2)|endometrium(4)|kidney(1)|large_intestine(7)|lung(2)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(2) 26 GTAGGCGCGTCGGTTCCGGAT 0.617000 4 45 0 0 1 0 0 RANGAP1 5905 broad.mit.edu 37 22 41647029 41647029 + Missense_Mutation SNP C C T TCGA-F2-A8YN-01A-11D-A377-08 TCGA-F2-A8YN-10A-01D-A37A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3481a872-1f51-4fdd-95ec-c3ad9ffc9040 eacf769d-bf42-4c1a-854a-a966923cf00b g.chr22:41647029C>T ENST00000455915.2 - 12 2934 c.1465G>A c.(1465-1467)Gca>Aca p.A489T RANGAP1_ENST00000407260.4_Missense_Mutation_p.A434T|RANGAP1_ENST00000405486.1_Missense_Mutation_p.A489T|RANGAP1_ENST00000356244.3_Missense_Mutation_p.A489T P46060 RAGP1_HUMAN Ran GTPase activating protein 1 489 mitotic prometaphase|signal transduction condensed chromosome kinetochore|cytosol|nuclear membrane|nuclear pore|soluble fraction|spindle pole protein binding|Ran GTPase activator activity breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(3)|lung(7)|upper_aerodigestive_tract(1)|urinary_tract(1) 19 TCCTGCACTGCCATCCTCACA 0.557000 7 352 0 0 1 0 0 TBP 6908 broad.mit.edu 37 6 170871058 170871058 + Silent SNP G G A rs113440919 TCGA-F2-A8YN-01A-11D-A377-08 TCGA-F2-A8YN-10A-01D-A37A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3481a872-1f51-4fdd-95ec-c3ad9ffc9040 eacf769d-bf42-4c1a-854a-a966923cf00b g.chr6:170871058G>A ENST00000392092.2 + 3 513 c.234G>A c.(232-234)caG>caA p.Q78Q TBP_ENST00000540980.1_Silent_p.Q58Q|TBP_ENST00000230354.6_Silent_p.Q78Q NM_003194.4 NP_003185.1 P20226 TBP_HUMAN TATA box binding protein 78 Poly-Gln. cell death|interspecies interaction between organisms|transcription elongation from RNA polymerase II promoter|transcription from RNA polymerase III promoter|viral reproduction transcription factor TFIIA complex|transcription factor TFIID complex repressing transcription factor binding|transcription regulatory region DNA binding breast(2)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(2)|lung(9)|ovary(1)|prostate(4)|urinary_tract(1) 26 Breast(66;5.08e-05)|Ovarian(120;0.125)|Esophageal squamous(34;0.246) OV - Ovarian serous cystadenocarcinoma(33;1.07e-22)|BRCA - Breast invasive adenocarcinoma(81;5.01e-06)|GBM - Glioblastoma multiforme(31;0.00591) agcagcagcagcagcagcagc 0.577000 5 119 0 0 1 0 0 OR5H1 26341 broad.mit.edu 37 3 97851900 97851900 + Missense_Mutation SNP A A G TCGA-F2-A8YN-01A-11D-A377-08 TCGA-F2-A8YN-10A-01D-A37A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3481a872-1f51-4fdd-95ec-c3ad9ffc9040 eacf769d-bf42-4c1a-854a-a966923cf00b g.chr3:97851900A>G ENST00000354565.2 + 1 359 c.359A>G c.(358-360)tAt>tGt p.Y120C RP11-343D2.11_ENST00000508964.1_RNA NM_001005338.1 NP_001005338.1 A6NKK0 OR5H1_HUMAN olfactory receptor, family 5, subfamily H, member 1 120 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity breast(1)|endometrium(7)|kidney(8)|large_intestine(3)|lung(13)|ovary(1)|skin(1) 34 ACGATGGCATATGATCGCTAT 0.393000 8 1243 0 0 1 0 0 SPTA1 6708 broad.mit.edu 37 1 158612287 158612287 + Nonsense_Mutation SNP G G A TCGA-F2-A8YN-01A-11D-A377-08 TCGA-F2-A8YN-10A-01D-A37A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3481a872-1f51-4fdd-95ec-c3ad9ffc9040 eacf769d-bf42-4c1a-854a-a966923cf00b g.chr1:158612287G>A ENST00000368148.3 - 33 4831 c.4651C>T c.(4651-4653)Cga>Tga p.R1551* SPTA1_ENST00000368147.3_Nonsense_Mutation_p.R1551* NM_003126.2 NP_003117.2 P02549 SPTA1_HUMAN spectrin, alpha, erythrocytic 1 (elliptocytosis 2) 1551 actin filament capping|actin filament organization|axon guidance|regulation of cell shape cytosol|intrinsic to internal side of plasma membrane|spectrin|spectrin-associated cytoskeleton actin filament binding|calcium ion binding|structural constituent of cytoskeleton NS(3)|breast(7)|cervix(1)|endometrium(22)|kidney(9)|large_intestine(29)|liver(2)|lung(183)|ovary(5)|prostate(18)|skin(11)|soft_tissue(1)|stomach(1)|upper_aerodigestive_tract(9)|urinary_tract(6) 307 all_hematologic(112;0.0378) TGCTCAGATCGGCCATCGACT 0.438000 11 465 0 0 1 0 0 ALMS1 7840 broad.mit.edu 37 2 73646378 73646378 + Missense_Mutation SNP G G A TCGA-F2-A8YN-01A-11D-A377-08 TCGA-F2-A8YN-10A-01D-A37A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3481a872-1f51-4fdd-95ec-c3ad9ffc9040 eacf769d-bf42-4c1a-854a-a966923cf00b g.chr2:73646378G>A ENST00000264448.6 + 3 689 c.578G>A c.(577-579)gGc>gAc p.G193D ALMS1_ENST00000377715.1_Missense_Mutation_p.G193D|ALMS1_ENST00000409009.1_Missense_Mutation_p.G151D NM_015120.4 NP_055935.4 Q8TCU4 ALMS1_HUMAN Alstrom syndrome 1 193 G2/M transition of mitotic cell cycle centrosome|cilium|cytosol|microtubule basal body|spindle pole breast(4)|endometrium(14)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(31)|lung(68)|ovary(4)|pancreas(4)|prostate(3)|skin(8)|upper_aerodigestive_tract(1)|urinary_tract(2) 147 CTGGAGGAGGGCATATTGACG 0.418000 6 671 0 0 1 0 0 WDR33 55339 broad.mit.edu 37 2 128466262 128466262 + Missense_Mutation SNP C C T TCGA-F2-A8YN-01A-11D-A377-08 TCGA-F2-A8YN-10A-01D-A37A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3481a872-1f51-4fdd-95ec-c3ad9ffc9040 eacf769d-bf42-4c1a-854a-a966923cf00b g.chr2:128466262C>T ENST00000322313.4 - 21 3928 c.3770G>A c.(3769-3771)cGa>cAa p.R1257Q NM_018383.4 NP_060853.3 Q9C0J8 WDR33_HUMAN WD repeat domain 33 1257 postreplication repair|spermatogenesis collagen|nucleus protein binding NS(1)|breast(3)|endometrium(2)|kidney(2)|large_intestine(9)|lung(17)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1) 39 Colorectal(110;0.1) BRCA - Breast invasive adenocarcinoma(221;0.0695) TTTGCCTCCTCGGTCTTCAGA 0.612000 138 339 0 0 1 0 0 TAS2R8 50836 broad.mit.edu 37 12 10959184 10959184 + Nonsense_Mutation SNP C C T TCGA-F2-A8YN-01A-11D-A377-08 TCGA-F2-A8YN-10A-01D-A37A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3481a872-1f51-4fdd-95ec-c3ad9ffc9040 eacf769d-bf42-4c1a-854a-a966923cf00b g.chr12:10959184C>T ENST00000240615.2 - 1 708 c.396G>A c.(394-396)tgG>tgA p.W132* NM_023918.1 NP_076407.1 Q9NYW2 TA2R8_HUMAN taste receptor, type 2, member 8 132 sensory perception of taste integral to membrane taste receptor activity endometrium(2)|kidney(1)|large_intestine(3)|lung(3)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 14 CCAGCAGGATCCAGTGCACCA 0.413000 12 227 0 0 1 0 0 GBA 2629 broad.mit.edu 37 1 155210420 155210420 + Splice_Site SNP C C T rs104886460 TCGA-F2-A8YN-01A-11D-A377-08 TCGA-F2-A8YN-10A-01D-A37A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3481a872-1f51-4fdd-95ec-c3ad9ffc9040 eacf769d-bf42-4c1a-854a-a966923cf00b g.chr1:155210420C>T ENST00000327247.5 - 3 348 c.e3+1 GBA_ENST00000368373.3_Splice_Site|GBA_ENST00000536770.1_Splice_Site|GBA_ENST00000428024.2_Intron|GBA_ENST00000427500.2_Splice_Site|GBA_ENST00000493842.1_Splice_Site NM_001005741.2|NM_001005742.2 NP_001005741.1|NP_001005742.1 P04062 GLCM_HUMAN glucosidase, beta, acid carbohydrate metabolic process|cell death|cellular response to tumor necrosis factor|ceramide biosynthetic process|glucosylceramide catabolic process|lysosome organization|negative regulation of interleukin-6 production|negative regulation of MAP kinase activity|positive regulation of protein dephosphorylation|sphingosine biosynthetic process|termination of signal transduction lysosomal lumen|lysosomal membrane cation binding|glucosylceramidase activity|receptor binding breast(1)|central_nervous_system(1)|endometrium(1)|kidney(3)|large_intestine(3)|lung(9)|ovary(3)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(2) 26 all_lung(78;2.32e-23)|Hepatocellular(266;0.0877)|all_hematologic(923;0.088) Epithelial(20;3.72e-10)|all cancers(21;1.19e-09)|BRCA - Breast invasive adenocarcinoma(34;0.000752)|LUSC - Lung squamous cell carcinoma(543;0.193) Alglucerase(DB00088)|Imiglucerase(DB00053) GACTCACTCACCTGATGCCCA 0.527000 Gaucher disease type I 8 787 0 0 1 0 0 MYH13 8735 broad.mit.edu 37 17 10209864 10209864 + Missense_Mutation SNP G G A TCGA-F2-A8YN-01A-11D-A377-08 TCGA-F2-A8YN-10A-01D-A37A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3481a872-1f51-4fdd-95ec-c3ad9ffc9040 eacf769d-bf42-4c1a-854a-a966923cf00b g.chr17:10209864G>A ENST00000418404.3 - 36 5541 c.5378C>T c.(5377-5379)aCg>aTg p.T1793M MYH13_ENST00000252172.4_Missense_Mutation_p.T1793M|MYH13_ENST00000570743.1_Missense_Mutation_p.T1793M Q9UKX3 MYH13_HUMAN myosin, heavy chain 13, skeletal muscle 1793 muscle contraction muscle myosin complex|myofibril|myosin filament actin binding|ATP binding|calmodulin binding|microfilament motor activity breast(3)|cervix(2)|endometrium(11)|kidney(7)|large_intestine(21)|lung(48)|ovary(7)|skin(2)|upper_aerodigestive_tract(5)|urinary_tract(2) 108 GTCCTTCACCGTCTGCTCCAG 0.552000 209 317 0 0 1 0 0 THAP7-AS1 0 broad.mit.edu 37 22 21363392 21363392 + RNA SNP G G A rs28522842 by1000genomes TCGA-F2-A8YN-01A-11D-A377-08 TCGA-F2-A8YN-10A-01D-A37A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3481a872-1f51-4fdd-95ec-c3ad9ffc9040 eacf769d-bf42-4c1a-854a-a966923cf00b g.chr22:21363392G>A ENST00000452284.1 + 0 1059 THAP7-AS1_ENST00000436079.1_RNA|TUBA3FP_ENST00000422086.1_RNA NR_027051.1 GGGCCCCATCGAATCACAGGG 0.562000 5 264 0 0 1 0 0 RMND5B 64777 broad.mit.edu 37 5 177574596 177574596 + Missense_Mutation SNP G G A TCGA-F2-A8YN-01A-11D-A377-08 TCGA-F2-A8YN-10A-01D-A37A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3481a872-1f51-4fdd-95ec-c3ad9ffc9040 eacf769d-bf42-4c1a-854a-a966923cf00b g.chr5:177574596G>A ENST00000515098.1 + 10 1274 c.923G>A c.(922-924)cGg>cAg p.R308Q RMND5B_ENST00000542098.1_Missense_Mutation_p.R295Q|RMND5B_ENST00000313386.4_Missense_Mutation_p.R308Q Q96G75 RMD5B_HUMAN required for meiotic nuclear division 5 homolog B (S. cerevisiae) 308 endometrium(3)|large_intestine(5)|lung(6)|ovary(1)|skin(2) 17 all_cancers(89;0.00294)|Renal(175;0.000269)|Lung NSC(126;0.00858)|all_lung(126;0.0139) all_neural(177;0.00802)|Medulloblastoma(196;0.0145)|all_hematologic(541;0.248) Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178) ATTGAGCAGCGGCAGTGCACT 0.577000 41 135 0 0 1 0 0 CFB 629 broad.mit.edu 37 6 31917095 31917095 + Missense_Mutation SNP G G A rs150398964 TCGA-F2-A8YN-01A-11D-A377-08 TCGA-F2-A8YN-10A-01D-A37A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3481a872-1f51-4fdd-95ec-c3ad9ffc9040 eacf769d-bf42-4c1a-854a-a966923cf00b g.chr6:31917095G>A ENST00000456570.1 + 21 2805 c.2750G>A c.(2749-2751)cGc>cAc p.R917H CFB_ENST00000425368.2_Missense_Mutation_p.R415H|CFB_ENST00000497841.1_3'UTR|CFB_ENST00000477310.1_Missense_Mutation_p.R766H|CFB_ENST00000556679.1_Missense_Mutation_p.R917H P00751 CFAB_HUMAN complement factor B 415 complement activation, alternative pathway|proteolysis extracellular region|plasma membrane complement binding|serine-type endopeptidase activity p.R415H(1) NS(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(10)|pancreas(1)|skin(1)|urinary_tract(1) 21 GGCAAGGATCGCAAAAACCCA 0.522000 4 313 0 0 1 0 0 NALCN 259232 broad.mit.edu 37 13 101736104 101736104 + Nonsense_Mutation SNP G G A TCGA-F2-A8YN-01A-11D-A377-08 TCGA-F2-A8YN-10A-01D-A37A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3481a872-1f51-4fdd-95ec-c3ad9ffc9040 eacf769d-bf42-4c1a-854a-a966923cf00b g.chr13:101736104G>A ENST00000251127.6 - 31 3622 c.3541C>T c.(3541-3543)Cga>Tga p.R1181* NM_052867.2 NP_443099.1 Q8IZF0 NALCN_HUMAN sodium leak channel, non-selective 1181 integral to membrane sodium channel activity|voltage-gated ion channel activity NS(1)|autonomic_ganglia(2)|breast(6)|central_nervous_system(2)|cervix(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(3)|kidney(10)|large_intestine(33)|liver(2)|lung(81)|ovary(8)|pancreas(3)|prostate(5)|skin(6)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1) 177 all_neural(89;0.0438)|Medulloblastoma(90;0.163)|Lung SC(71;0.184) ATCTTCAGTCGGCTCTTCAGG 0.512000 54 158 0 0 1 0 0 PACSIN1 0 broad.mit.edu 37 6 34499564 34499564 + Splice_Site SNP G G A TCGA-F2-A8YN-01A-11D-A377-08 TCGA-F2-A8YN-10A-01D-A37A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3481a872-1f51-4fdd-95ec-c3ad9ffc9040 eacf769d-bf42-4c1a-854a-a966923cf00b g.chr6:34499564G>A ENST00000538621.1 + 9 1470 c.1225_splice c.e9+1 p.G409_splice PACSIN1_ENST00000374043.2_Splice_Site_p.G367_splice|PACSIN1_ENST00000244458.2_Splice_Site_p.G409_splice NM_001199583.1 NP_001186512.1 Q9BY11 PACN1_HUMAN protein kinase C and casein kinase substrate in neurons 1 409 SH3. endocytosis protein kinase activity endometrium(1)|kidney(1)|large_intestine(3)|lung(6)|prostate(2) 13 CTTTAAGGCCGGTAGGACGGC 0.657000 5 493 0 0 1 0 0 ZC3H11A 9877 broad.mit.edu 37 1 203821508 203821508 + Nonsense_Mutation SNP C C G TCGA-F2-A8YN-01A-11D-A377-08 TCGA-F2-A8YN-10A-01D-A37A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3481a872-1f51-4fdd-95ec-c3ad9ffc9040 eacf769d-bf42-4c1a-854a-a966923cf00b g.chr1:203821508C>G ENST00000545588.1 + 17 6241 c.2414C>G c.(2413-2415)tCa>tGa p.S805* ZC3H11A_ENST00000367212.3_Nonsense_Mutation_p.S805*|ZC3H11A_ENST00000332127.4_Nonsense_Mutation_p.S805*|ZC3H11A_ENST00000367214.1_Nonsense_Mutation_p.S805*|ZC3H11A_ENST00000367210.1_Nonsense_Mutation_p.S805* NM_001271675.1 NP_001258604.1 O75152 ZC11A_HUMAN zinc finger CCCH-type containing 11A 805 nucleic acid binding|protein binding|zinc ion binding p.S805*(3) central_nervous_system(1)|endometrium(7)|kidney(1)|large_intestine(4)|lung(15)|prostate(1)|skin(2)|upper_aerodigestive_tract(1) 32 all_cancers(21;0.0904)|all_epithelial(62;0.234) BRCA - Breast invasive adenocarcinoma(75;0.109) CTTGAGCTATCAGAAATGATT 0.378000 6 240 0 0 1 0 0 SLC25A6 293 broad.mit.edu 37 X 1508553 1508553 + Missense_Mutation SNP C C T TCGA-F2-A8YN-01A-11D-A377-08 TCGA-F2-A8YN-10A-01D-A37A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3481a872-1f51-4fdd-95ec-c3ad9ffc9040 eacf769d-bf42-4c1a-854a-a966923cf00b g.chrX:1508553C>T ENST00000381401.5 - 2 893 c.179G>A c.(178-180)cGc>cAc p.R60H SLC25A6_ENST00000475167.1_5'UTR NM_001636.3 NP_001627.2 P12236 ADT3_HUMAN solute carrier family 25 (mitochondrial carrier; adenine nucleotide translocator), member 6 60 active induction of host immune response by virus|apoptosis|energy reserve metabolic process|regulation of insulin secretion|viral infectious cycle integral to membrane|mitochondrial inner membrane presequence translocase complex ATP:ADP antiporter activity|protein binding haematopoietic_and_lymphoid_tissue(1)|kidney(1)|lung(8)|upper_aerodigestive_tract(1) 11 all_cancers(21;4.28e-07)|all_epithelial(21;2.07e-08)|all_lung(23;2.81e-05)|Lung NSC(23;0.000693)|Lung SC(21;0.122) Clodronate(DB00720) CTTGGGGATGCGGACAATGCA 0.607000 5 479 0 0 1 0 0 ZZEF1 23140 broad.mit.edu 37 17 3936124 3936124 + Nonsense_Mutation SNP G G A TCGA-F2-A8YN-01A-11D-A377-08 TCGA-F2-A8YN-10A-01D-A37A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3481a872-1f51-4fdd-95ec-c3ad9ffc9040 eacf769d-bf42-4c1a-854a-a966923cf00b g.chr17:3936124G>A ENST00000381638.2 - 41 6881 c.6757C>T c.(6757-6759)Cag>Tag p.Q2253* NM_015113.3 NP_055928.3 O43149 ZZEF1_HUMAN zinc finger, ZZ-type with EF-hand domain 1 2253 calcium ion binding|zinc ion binding central_nervous_system(1)|cervix(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(17)|lung(19)|ovary(3)|pancreas(1)|prostate(3)|skin(8)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(3) 84 TGTGGTACCTGGGGGAAGCCA 0.537000 4 116 0 0 1 0 0 POM121 9883 broad.mit.edu 37 7 72413896 72413896 + Missense_Mutation SNP A A G TCGA-F2-A8YN-01A-11D-A377-08 TCGA-F2-A8YN-10A-01D-A37A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3481a872-1f51-4fdd-95ec-c3ad9ffc9040 eacf769d-bf42-4c1a-854a-a966923cf00b g.chr7:72413896A>G ENST00000395270.1 + 14 3610 c.2569A>G c.(2569-2571)Acc>Gcc p.T857A POM121_ENST00000358357.3_Missense_Mutation_p.T857A|POM121_ENST00000446813.1_Missense_Mutation_p.T857A|POM121_ENST00000434423.2_Missense_Mutation_p.T1122A|POM121_ENST00000257622.4_Missense_Mutation_p.T857A NM_001257190.1 NP_001244119.1 Q96HA1 P121A_HUMAN POM121 transmembrane nucleoporin 1122 Pore side (Potential).|Thr-rich. carbohydrate metabolic process|glucose transport|mRNA transport|protein transport|regulation of glucose transport|transmembrane transport|viral reproduction endoplasmic reticulum membrane|nuclear membrane|nuclear pore p.T857A(8) NS(1)|breast(1)|endometrium(9)|kidney(4)|large_intestine(6)|lung(12)|prostate(3)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1) 41 Lung NSC(55;0.163) AGGCTCCAGCACCACCACCGG 0.637000 6 178 0 0 1 0 0 ETV3L 440695 broad.mit.edu 37 1 157068581 157068581 + Missense_Mutation SNP G G A TCGA-F2-A8YN-01A-11D-A377-08 TCGA-F2-A8YN-10A-01D-A37A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3481a872-1f51-4fdd-95ec-c3ad9ffc9040 eacf769d-bf42-4c1a-854a-a966923cf00b g.chr1:157068581G>A ENST00000454449.2 - 3 687 c.403C>T c.(403-405)Cgg>Tgg p.R135W NM_001004341.2 NP_001004341.1 Q6ZN32 ETV3L_HUMAN ets variant 3-like 135 nucleus sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity breast(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(9)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(2) 24 Hepatocellular(266;0.158) Prostate(1639;0.184) GGCGGCGCCCGCACTTCCCAC 0.577000 6 412 0 0 1 0 0 FRG1B 0 broad.mit.edu 37 20 29628243 29628243 + Missense_Mutation SNP T T C TCGA-F2-A8YN-01A-11D-A377-08 TCGA-F2-A8YN-10A-01D-A37A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3481a872-1f51-4fdd-95ec-c3ad9ffc9040 eacf769d-bf42-4c1a-854a-a966923cf00b g.chr20:29628243T>C ENST00000278882.3 + 6 625 c.245T>C c.(244-246)tTg>tCg p.L82S FRG1B_ENST00000439954.2_Missense_Mutation_p.L87S|FRG1B_ENST00000358464.4_Missense_Mutation_p.L82S p.L82S(2) endometrium(10)|kidney(21)|lung(3)|pancreas(1)|prostate(9)|urinary_tract(9) 53 ATGGCTTTGTTGGCCTCAAAT 0.363000 7 526 0 0 1 0 0 SGIP1 84251 broad.mit.edu 37 1 67147697 67147697 + Silent SNP G G A rs146689605 byFrequency TCGA-F2-A8YN-01A-11D-A377-08 TCGA-F2-A8YN-10A-01D-A37A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3481a872-1f51-4fdd-95ec-c3ad9ffc9040 eacf769d-bf42-4c1a-854a-a966923cf00b g.chr1:67147697G>A ENST00000371037.4 + 15 1037 c.960G>A c.(958-960)ccG>ccA p.P320P SGIP1_ENST00000371036.3_Intron|SGIP1_ENST00000237247.6_Silent_p.P324P|SGIP1_ENST00000371039.1_Intron|SGIP1_ENST00000371035.3_Intron NM_032291.2 NP_115667.2 Q9BQI5 SGIP1_HUMAN SH3-domain GRB2-like (endophilin) interacting protein 1 320 Pro-rich. positive regulation of energy homeostasis|positive regulation of feeding behavior|positive regulation of receptor-mediated endocytosis|response to dietary excess AP-2 adaptor complex microtubule binding|phospholipid binding|SH3 domain binding breast(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(6)|lung(43)|ovary(4)|pancreas(1)|prostate(1)|skin(3)|stomach(1) 71 ATACATCCCCGGAACATGTTA 0.522000 5 850 0 0 1 0 0 SORBS2 8470 broad.mit.edu 37 4 186544317 186544317 + Missense_Mutation SNP G G A TCGA-F2-A8YN-01A-11D-A377-08 TCGA-F2-A8YN-10A-01D-A37A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3481a872-1f51-4fdd-95ec-c3ad9ffc9040 eacf769d-bf42-4c1a-854a-a966923cf00b g.chr4:186544317G>A ENST00000431808.1 - 14 2817 c.2254C>T c.(2254-2256)Ccg>Tcg p.P752S SORBS2_ENST00000319471.9_Intron|SORBS2_ENST00000418609.1_Missense_Mutation_p.P656S|SORBS2_ENST00000437304.2_Intron|SORBS2_ENST00000284776.7_Missense_Mutation_p.P752S|SORBS2_ENST00000498125.1_Intron|SORBS2_ENST00000449407.2_Intron|SORBS2_ENST00000393528.3_Intron|SORBS2_ENST00000355634.5_Missense_Mutation_p.P852S|SORBS2_ENST00000448662.2_Intron O94875 SRBS2_HUMAN sorbin and SH3 domain containing 2 752 actin cytoskeleton|nucleus|perinuclear region of cytoplasm|Z disc cytoskeletal adaptor activity|structural constituent of cytoskeleton|structural constituent of muscle|zinc ion binding p.P752S(1) endometrium(7)|haematopoietic_and_lymphoid_tissue(3)|kidney(4)|large_intestine(9)|lung(21)|ovary(2)|prostate(2)|skin(4)|urinary_tract(1) 53 all_cancers(14;4.27e-52)|all_epithelial(14;6.58e-39)|all_lung(41;1.42e-13)|Lung NSC(41;3.73e-13)|Melanoma(20;1.91e-06)|Colorectal(36;0.00692)|Hepatocellular(41;0.00826)|Renal(120;0.00994)|Prostate(90;0.0101)|all_hematologic(60;0.0174)|all_neural(102;0.244) OV - Ovarian serous cystadenocarcinoma(60;1.54e-09)|BRCA - Breast invasive adenocarcinoma(30;0.000232)|GBM - Glioblastoma multiforme(59;0.000385)|STAD - Stomach adenocarcinoma(60;0.00109)|LUSC - Lung squamous cell carcinoma(40;0.0205) CTGTTGTCCGGCAAGCTCCCC 0.522000 7 1058 0 0 1 0 0 ZNRD1-AS1 0 broad.mit.edu 37 6 29977377 29977377 + RNA SNP C C G TCGA-F2-A8YN-01A-11D-A377-08 TCGA-F2-A8YN-10A-01D-A37A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3481a872-1f51-4fdd-95ec-c3ad9ffc9040 eacf769d-bf42-4c1a-854a-a966923cf00b g.chr6:29977377C>G ENST00000376797.3 - 0 731 ZNRD1-AS1_ENST00000420251.1_RNA|HLA-J_ENST00000462773.1_RNA|ZNRD1-AS1_ENST00000425604.1_RNA|ZNRD1-AS1_ENST00000448093.1_RNA TTTGTGACTTCAAGAACCCTG 0.458000 16 375 0 0 1 0 0 CRYGD 1421 broad.mit.edu 37 2 208988967 208988967 + Missense_Mutation SNP C C G TCGA-F2-A8YN-01A-11D-A377-08 TCGA-F2-A8YN-10A-01D-A37A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3481a872-1f51-4fdd-95ec-c3ad9ffc9040 eacf769d-bf42-4c1a-854a-a966923cf00b g.chr2:208988967C>G ENST00000264376.4 - 2 148 c.121G>C c.(121-123)Ggc>Cgc p.G41R NM_006891.3 NP_008822.2 P07320 CRGD_HUMAN crystallin, gamma D 41 Beta/gamma crystallin 'Greek key' 2. cellular response to reactive oxygen species|visual perception soluble fraction protein binding|structural constituent of eye lens breast(1)|endometrium(1)|lung(3) 5 LUSC - Lung squamous cell carcinoma(261;0.0703)|Epithelial(149;0.0858)|Lung(261;0.133) ATCCAGCAGCCGCTGTCCACG 0.662000 6 97 0 0 1 0 0 POLR3B 55703 broad.mit.edu 37 12 106820987 106820987 + Missense_Mutation SNP C C T TCGA-F2-A8YN-01A-11D-A377-08 TCGA-F2-A8YN-10A-01D-A37A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3481a872-1f51-4fdd-95ec-c3ad9ffc9040 eacf769d-bf42-4c1a-854a-a966923cf00b g.chr12:106820987C>T ENST00000228347.4 + 13 1336 c.1114C>T c.(1114-1116)Ctt>Ttt p.L372F POLR3B_ENST00000549195.1_3'UTR|POLR3B_ENST00000539066.1_Missense_Mutation_p.L314F NM_018082.5 NP_060552.4 Q9NW08 RPC2_HUMAN polymerase (RNA) III (DNA directed) polypeptide B 372 innate immune response|positive regulation of innate immune response|positive regulation of interferon-beta production|response to virus|termination of RNA polymerase III transcription|transcription elongation from RNA polymerase III promoter nucleoplasm DNA binding|DNA-directed RNA polymerase activity|metal ion binding|ribonucleoside binding p.L372F(2) breast(2)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(3)|large_intestine(14)|lung(22)|ovary(1)|prostate(3)|skin(3)|urinary_tract(2) 57 TTTATCTCTTCTTTTTGAAGA 0.274000 18 85 0 0 1 0 0 IGHG4 0 broad.mit.edu 37 14 106091309 106091309 + RNA SNP G G A TCGA-F2-A8YN-01A-11D-A377-08 TCGA-F2-A8YN-10A-01D-A37A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3481a872-1f51-4fdd-95ec-c3ad9ffc9040 eacf769d-bf42-4c1a-854a-a966923cf00b g.chr14:106091309G>A ENST00000390543.2 - 0 584 ACTCCTTGCCGTTCAGCCAGT 0.592000 9 1443 0 0 1 0 0 FARP1 10160 broad.mit.edu 37 13 98896791 98896791 + Missense_Mutation SNP C C T TCGA-F2-A8YN-01A-11D-A377-08 TCGA-F2-A8YN-10A-01D-A37A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3481a872-1f51-4fdd-95ec-c3ad9ffc9040 eacf769d-bf42-4c1a-854a-a966923cf00b g.chr13:98896791C>T ENST00000376581.5 + 3 254 c.218C>T c.(217-219)aCg>aTg p.T73M FARP1_ENST00000319562.6_Intron|FARP1_ENST00000595437.1_Intron|FARP1_ENST00000376586.2_Intron NM_001001715.2 NP_001001715.2 Q9Y4F1 FARP1_HUMAN FERM, RhoGEF (ARHGEF) and pleckstrin domain protein 1 (chondrocyte-derived) 0 FERM. regulation of Rho protein signal transduction cytoplasm|cytoskeleton|extrinsic to membrane cytoskeletal protein binding|Rho guanyl-nucleotide exchange factor activity p.T73M(1) breast(3)|endometrium(6)|kidney(6)|large_intestine(13)|lung(16)|ovary(1)|skin(3)|urinary_tract(1) 49 all_neural(89;0.0982)|Medulloblastoma(90;0.163)|Lung SC(71;0.184) BRCA - Breast invasive adenocarcinoma(86;0.233) TCCTCCTGGACGGGTTGGGTA 0.488000 4 251 0 0 1 0 0 ZNF83 55769 broad.mit.edu 37 19 53116804 53116804 + Silent SNP G G A TCGA-F2-A8YN-01A-11D-A377-08 TCGA-F2-A8YN-10A-01D-A37A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3481a872-1f51-4fdd-95ec-c3ad9ffc9040 eacf769d-bf42-4c1a-854a-a966923cf00b g.chr19:53116804G>A ENST00000597597.1 - 2 3267 c.1014C>T c.(1012-1014)atC>atT p.I338I ZNF83_ENST00000601257.1_Intron|ZNF83_ENST00000391789.4_Silent_p.I310I|ZNF83_ENST00000600714.1_Intron|ZNF83_ENST00000541777.2_Silent_p.I338I|ZNF83_ENST00000301096.3_Silent_p.I338I|ZNF83_ENST00000544146.1_Silent_p.I338I|ZNF83_ENST00000545872.1_Silent_p.I338I|ZNF83_ENST00000536937.1_Silent_p.I338I P51522 ZNF83_HUMAN zinc finger protein 83 338 nucleus DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding p.I338I(1) breast(1)|endometrium(1)|kidney(1)|large_intestine(8)|lung(3)|ovary(1)|prostate(1)|upper_aerodigestive_tract(2) 18 OV - Ovarian serous cystadenocarcinoma(262;0.00841)|GBM - Glioblastoma multiforme(134;0.0244) CTCCAGTGTGGATTCTCCAGT 0.413000 6 885 0 0 1 0 0 DHRS4 10901 broad.mit.edu 37 14 24424420 24424420 + Splice_Site SNP C C T TCGA-F2-A8YN-01A-11D-A377-08 TCGA-F2-A8YN-10A-01D-A37A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3481a872-1f51-4fdd-95ec-c3ad9ffc9040 eacf769d-bf42-4c1a-854a-a966923cf00b g.chr14:24424420C>T ENST00000313250.5 + 2 508 c.306_splice c.e2+1 p.T102_splice DHRS4_ENST00000397075.3_Splice_Site_p.T102_splice|DHRS4_ENST00000543741.2_Splice_Site_p.T102_splice|DHRS4_ENST00000559632.1_Splice_Site_p.T102_splice|DHRS4_ENST00000397074.3_Splice_Site_p.T102_splice|DHRS4_ENST00000421831.1_Splice_Site_p.T84_splice|DHRS4_ENST00000558581.1_Splice_Site_p.T102_splice|DHRS4_ENST00000382761.3_Splice_Site_p.T84_splice|DHRS4_ENST00000558263.1_Splice_Site_p.T102_splice|DHRS4_ENST00000308178.8_Splice_Site_p.T84_splice|DHRS4_ENST00000397073.2_Splice_Site_p.T84_splice NM_021004.2 NP_066284.2 Q9BTZ2 DHRS4_HUMAN dehydrogenase/reductase (SDR family) member 4 102 T -> M (in Ref. 1; AAD02292). mitochondrion|nuclear membrane|peroxisome binding|carbonyl reductase (NADPH) activity p.T102M(4) central_nervous_system(2)|endometrium(1)|kidney(3)|large_intestine(1)|lung(4)|ovary(1)|skin(1)|upper_aerodigestive_tract(1) 14 GBM - Glioblastoma multiforme(265;0.00962) Vitamin A(DB00162) CTGGTGGCCACGGTGAGCTGC 0.652000 4 115 0 0 1 0 0 TMEM45B 120224 broad.mit.edu 37 11 129722430 129722430 + Missense_Mutation SNP G G A TCGA-F2-A8YN-01A-11D-A377-08 TCGA-F2-A8YN-10A-01D-A37A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3481a872-1f51-4fdd-95ec-c3ad9ffc9040 eacf769d-bf42-4c1a-854a-a966923cf00b g.chr11:129722430G>A ENST00000281441.3 + 2 141 c.53G>A c.(52-54)gGg>gAg p.G18E TMEM45B_ENST00000524567.1_Missense_Mutation_p.G18E NM_138788.3 NP_620143.1 Q96B21 TM45B_HUMAN transmembrane protein 45B 18 integral to membrane endometrium(2)|kidney(1)|large_intestine(2)|lung(5)|skin(1)|stomach(1) 12 all_hematologic(175;0.0537) Breast(109;0.00526)|Lung NSC(97;0.00901)|all_lung(97;0.018)|Medulloblastoma(222;0.0523)|all_neural(223;0.186) OV - Ovarian serous cystadenocarcinoma(99;0.012)|Lung(977;0.179)|LUSC - Lung squamous cell carcinoma(976;0.189) CTGATCATTGGGCTGTGTTGG 0.507000 146 358 0 0 1 0 0 FOXP2 93986 broad.mit.edu 37 7 114269973 114269973 + Silent SNP A A G rs149757187 TCGA-F2-A8YN-01A-11D-A377-08 TCGA-F2-A8YN-10A-01D-A37A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3481a872-1f51-4fdd-95ec-c3ad9ffc9040 eacf769d-bf42-4c1a-854a-a966923cf00b g.chr7:114269973A>G ENST00000393500.3 + 11 1105 c.285A>G c.(283-285)caA>caG p.Q95Q FOXP2_ENST00000403559.4_Silent_p.Q187Q|FOXP2_ENST00000393491.3_Silent_p.Q78Q|FOXP2_ENST00000408937.3_Silent_p.Q195Q|FOXP2_ENST00000390668.3_Silent_p.Q194Q|FOXP2_ENST00000378237.3_Silent_p.Q170Q|FOXP2_ENST00000393489.3_Silent_p.Q78Q|AC020606.1_ENST00000580664.1_RNA|FOXP2_ENST00000393494.2_Silent_p.Q170Q|FOXP2_ENST00000360232.4_Silent_p.Q170Q|FOXP2_ENST00000350908.4_Silent_p.Q170Q|FOXP2_ENST00000393498.2_Silent_p.Q150Q O15409 FOXP2_HUMAN forkhead box P2 170 Gln-rich. camera-type eye development|caudate nucleus development|cerebellum development|cerebral cortex development|embryo development|growth|lung alveolus development|negative regulation of transcription, DNA-dependent|pattern specification process|positive regulation of epithelial cell proliferation involved in lung morphogenesis|positive regulation of mesenchymal cell proliferation|post-embryonic development|putamen development|regulation of sequence-specific DNA binding transcription factor activity|righting reflex|skeletal muscle tissue development|smooth muscle tissue development|vocal learning cytoplasm|transcription factor complex chromatin binding|DNA bending activity|double-stranded DNA binding|promoter binding|protein heterodimerization activity|protein homodimerization activity|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|specific RNA polymerase II transcription factor activity|specific transcriptional repressor activity|transcription activator activity|transcription factor binding|zinc ion binding p.Q195Q(1) breast(3)|endometrium(7)|kidney(4)|large_intestine(7)|lung(22)|ovary(4)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2) 52 agcagcagcaacaacaacaac 0.502000 7 218 0 0 1 0 0 ZNF876P 0 broad.mit.edu 37 4 206531 206531 + RNA SNP C C G TCGA-F2-A8YN-01A-11D-A377-08 TCGA-F2-A8YN-10A-01D-A37A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3481a872-1f51-4fdd-95ec-c3ad9ffc9040 eacf769d-bf42-4c1a-854a-a966923cf00b g.chr4:206531C>G ENST00000356347.3 + 0 133 NR_027481.1 TTGGATGATTCGTAGCTAAGA 0.632000 4 139 0 0 1 0 0 SFRP4 6424 broad.mit.edu 37 7 37956044 37956044 + Silent SNP G G A TCGA-F2-A8YN-01A-11D-A377-08 TCGA-F2-A8YN-10A-01D-A37A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3481a872-1f51-4fdd-95ec-c3ad9ffc9040 eacf769d-bf42-4c1a-854a-a966923cf00b g.chr7:37956044G>A ENST00000436072.2 - 1 473 c.96C>T c.(94-96)tgC>tgT p.C32C EPDR1_ENST00000476620.1_Intron NM_003014.3 NP_003005.2 Q6FHJ7 SFRP4_HUMAN secreted frizzled-related protein 4 32 FZ. brain development|cell differentiation|decidualization|embryo development|epithelium development|gonad development|mammary gland involution|menstrual cycle phase|negative regulation of canonical Wnt receptor signaling pathway|negative regulation of cell proliferation|negative regulation of JNK cascade|negative regulation of sequence-specific DNA binding transcription factor activity|negative regulation of sodium-dependent phosphate transport|phosphate ion homeostasis|positive regulation of apoptosis|positive regulation of canonical Wnt receptor signaling pathway|positive regulation of epidermal cell differentiation|positive regulation of gene expression|positive regulation of receptor internalization|vasculature development|Wnt receptor signaling pathway cell surface|cytoplasm|extracellular space|nucleus PDZ domain binding|Wnt receptor activity|Wnt-protein binding endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(5)|lung(13)|upper_aerodigestive_tract(2)|urinary_tract(1) 29 GCATGTGCCGGCACATAGGGA 0.672000 5 308 0 0 1 0 0 P2RY1 5028 broad.mit.edu 37 3 152554482 152554482 + Missense_Mutation SNP C C T TCGA-F2-A8YN-01A-11D-A377-08 TCGA-F2-A8YN-10A-01D-A37A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3481a872-1f51-4fdd-95ec-c3ad9ffc9040 eacf769d-bf42-4c1a-854a-a966923cf00b g.chr3:152554482C>T ENST00000305097.3 + 1 1747 c.911C>T c.(910-912)gCc>gTc p.A304V NM_002563.3 NP_002554.1 P47900 P2RY1_HUMAN purinergic receptor P2Y, G-protein coupled, 1 304 activation of phospholipase C activity by G-protein coupled receptor protein signaling pathway coupled to IP3 second messenger|platelet activation integral to plasma membrane purinergic nucleotide receptor activity, G-protein coupled breast(1)|endometrium(1)|large_intestine(7)|lung(11)|ovary(1)|prostate(2) 23 LUSC - Lung squamous cell carcinoma(72;0.0628)|Lung(72;0.11) AGGGTTTATGCCACGTATCAG 0.478000 5 525 0 0 1 0 0 KCNJ12 3768 broad.mit.edu 37 17 21319451 21319451 + Missense_Mutation SNP C C T rs144590967 byFrequency TCGA-F2-A8YN-01A-11D-A377-08 TCGA-F2-A8YN-10A-01D-A37A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3481a872-1f51-4fdd-95ec-c3ad9ffc9040 eacf769d-bf42-4c1a-854a-a966923cf00b g.chr17:21319451C>T ENST00000583088.1 + 3 1692 c.797C>T c.(796-798)tCg>tTg p.S266L KCNJ12_ENST00000331718.5_Missense_Mutation_p.S266L NM_021012.4 NP_066292.2 potassium inwardly-rectifying channel, subfamily J, member 12 NS(1)|breast(4)|endometrium(4)|kidney(1)|large_intestine(5)|lung(39)|ovary(5)|skin(8)|stomach(3) 70 Colorectal(15;0.0183)|COAD - Colon adenocarcinoma(3;0.0732) TTTCTGGTGTCGCCCATCACC 0.607000 Prostate(3;0.18) 51 146 0 0 1 0 0 SLC22A17 51310 broad.mit.edu 37 14 23816760 23816760 + Silent SNP G G A TCGA-F2-A8YN-01A-11D-A377-08 TCGA-F2-A8YN-10A-01D-A37A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3481a872-1f51-4fdd-95ec-c3ad9ffc9040 eacf769d-bf42-4c1a-854a-a966923cf00b g.chr14:23816760G>A ENST00000354772.3 - 8 1628 c.1125C>T c.(1123-1125)acC>acT p.T375T SLC22A17_ENST00000206544.8_Silent_p.T375T|SLC22A17_ENST00000474057.1_5'UTR|SLC22A17_ENST00000397260.3_Silent_p.T264T|SLC22A17_ENST00000397267.1_Silent_p.T375T NM_016609.3 NP_057693.3 Q8WUG5 S22AH_HUMAN solute carrier family 22, member 17 375 siderophore transport integral to organelle membrane|integral to plasma membrane|vacuolar membrane transmembrane receptor activity|transmembrane transporter activity breast(1)|cervix(1)|endometrium(1)|large_intestine(3)|lung(3)|ovary(1)|pancreas(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 15 all_cancers(95;7.12e-06) GBM - Glioblastoma multiforme(265;0.00643) AAGCAATGCCGGTAAGGGTCA 0.622000 4 179 0 0 1 0 0 HYDIN 54768 broad.mit.edu 37 16 71101253 71101253 + Missense_Mutation SNP G G T TCGA-F2-A8YN-01A-11D-A377-08 TCGA-F2-A8YN-10A-01D-A37A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3481a872-1f51-4fdd-95ec-c3ad9ffc9040 eacf769d-bf42-4c1a-854a-a966923cf00b g.chr16:71101253G>T ENST00000393567.2 - 15 2165 c.2015C>A c.(2014-2016)gCa>gAa p.A672E HYDIN_ENST00000393550.2_Missense_Mutation_p.A687E|HYDIN_ENST00000288168.10_Missense_Mutation_p.A689E|HYDIN_ENST00000321489.5_Missense_Mutation_p.A672E|HYDIN_ENST00000541601.1_Missense_Mutation_p.A689E|HYDIN_ENST00000538248.1_Missense_Mutation_p.A699E|HYDIN_ENST00000448691.1_Missense_Mutation_p.A672E|HYDIN_ENST00000448089.2_Missense_Mutation_p.A672E NM_001270974.1 NP_001257903.1 Q4G0P3 HYDIN_HUMAN HYDIN, axonemal central pair apparatus protein 672 p.A672E(3) breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(17)|lung(12)|ovary(2)|skin(3)|stomach(2)|upper_aerodigestive_tract(1) 43 Ovarian(137;0.0654) CACCACGAGTGCCAGCTCGTA 0.532000 95 226 8.98033e-41 9.62466e-41 1 1 0 THADA 63892 broad.mit.edu 37 2 43768407 43768407 + Missense_Mutation SNP C C T TCGA-F2-A8YN-01A-11D-A377-08 TCGA-F2-A8YN-10A-01D-A37A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3481a872-1f51-4fdd-95ec-c3ad9ffc9040 eacf769d-bf42-4c1a-854a-a966923cf00b g.chr2:43768407C>T ENST00000405006.4 - 21 3506 c.3155G>A c.(3154-3156)tGt>tAt p.C1052Y THADA_ENST00000415080.2_Missense_Mutation_p.C762Y|THADA_ENST00000405975.2_Missense_Mutation_p.C1052Y|THADA_ENST00000330266.7_Missense_Mutation_p.C762Y NM_001083953.1|NM_001271643.1 NP_001077422.1|NP_001258572.1 Q6YHU6 THADA_HUMAN thyroid adenoma associated 1052 binding breast(1)|endometrium(9)|kidney(5)|large_intestine(9)|liver(1)|lung(28)|ovary(4)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(5) 66 Acute lymphoblastic leukemia(82;0.00361)|all_hematologic(82;0.00837) TCTCCAACAACATACCAGCAC 0.413000 202 581 0 0 1 0 0 CPAMD8 27151 broad.mit.edu 37 19 17057923 17057923 + Missense_Mutation SNP C C T TCGA-F2-A8YN-01A-11D-A377-08 TCGA-F2-A8YN-10A-01D-A37A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3481a872-1f51-4fdd-95ec-c3ad9ffc9040 eacf769d-bf42-4c1a-854a-a966923cf00b g.chr19:17057923C>T ENST00000443236.1 - 21 2795 c.2764G>A c.(2764-2766)Gtt>Att p.V922I NM_015692.2 NP_056507.2 Q8IZJ3 CPMD8_HUMAN C3 and PZP-like, alpha-2-macroglobulin domain containing 8 875 extracellular space|plasma membrane serine-type endopeptidase inhibitor activity breast(11)|central_nervous_system(3)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(17)|lung(14)|ovary(7)|pancreas(2)|prostate(4)|skin(5) 82 AAGGACAGAACGACCCAGATG 0.597000 234 513 0 0 1 0 0 KRAS 3845 broad.mit.edu 37 12 25398285 25398285 + Missense_Mutation SNP C C G rs121913530 TCGA-F2-A8YN-01A-11D-A377-08 TCGA-F2-A8YN-10A-01D-A37A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3481a872-1f51-4fdd-95ec-c3ad9ffc9040 eacf769d-bf42-4c1a-854a-a966923cf00b g.chr12:25398285C>G ENST00000311936.3 - 2 225 c.34G>C c.(34-36)Ggt>Cgt p.G12R KRAS_ENST00000557334.1_Missense_Mutation_p.G12R|KRAS_ENST00000556131.1_Missense_Mutation_p.G12R|KRAS_ENST00000256078.4_Missense_Mutation_p.G12R NM_004985.3 NP_004976.2 P01116 RASK_HUMAN Kirsten rat sarcoma viral oncogene homolog 12 G -> A (in a colorectal cancer sample; somatic mutation).|G -> C (in lung carcinoma; somatic mutation).|G -> D (in pancreatic carcinoma, GASC and lung carcinoma; somatic mutation).|G -> R (in lung cancer and bladder cancer; somatic mutation).|G -> S (in lung carcinoma and GASC; somatic mutation).|G -> V (in lung carcinoma, pancreatic carcinoma, colon cancer and GASC; somatic mutation). activation of MAPKK activity|axon guidance|blood coagulation|epidermal growth factor receptor signaling pathway|insulin receptor signaling pathway|leukocyte migration|nerve growth factor receptor signaling pathway|Ras protein signal transduction plasma membrane GTP binding|GTPase activity|protein binding p.G12C(3001)|p.G12S(1288)|p.G12R(789)|p.G12F(46)|p.G12L(8)|p.G12I(4)|p.G12W(3)|p.A11_G12insGA(2)|p.G12Y(2)|p.G12N(1) UBE2L3/KRAS(2) NS(6)|adrenal_gland(1)|autonomic_ganglia(3)|biliary_tract(532)|bone(2)|breast(32)|central_nervous_system(14)|cervix(50)|endometrium(411)|eye(4)|gastrointestinal_tract_(site_indeterminate)(7)|genital_tract(1)|haematopoietic_and_lymphoid_tissue(385)|kidney(8)|large_intestine(15267)|liver(29)|lung(3407)|oesophagus(16)|ovary(612)|pancreas(3739)|penis(1)|peritoneum(6)|prostate(96)|salivary_gland(6)|skin(45)|small_intestine(68)|soft_tissue(88)|stomach(207)|testis(17)|thymus(5)|thyroid(159)|upper_aerodigestive_tract(68)|urinary_tract(57) 25349 all_cancers(2;1e-35)|all_epithelial(2;1.97e-38)|all_lung(3;2.1e-23)|Lung NSC(3;1.16e-22)|Acute lymphoblastic leukemia(6;0.00231)|all_hematologic(7;0.00259)|Melanoma(3;0.0301)|Colorectal(261;0.11)|Ovarian(17;0.12) OV - Ovarian serous cystadenocarcinoma(3;1.23e-21)|Epithelial(3;1.31e-20)|all cancers(3;5.45e-18)|STAD - Stomach adenocarcinoma(2;2.68e-05) CCTACGCCACCAGCTCCAACT 0.348000 G12C(CALU1_LUNG)|G12C(HCC44_LUNG)|G12C(IALM_LUNG)|G12C(KHM1B_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12C(KYSE410_OESOPHAGUS)|G12C(LU65_LUNG)|G12C(LU99_LUNG)|G12C(MIAPACA2_PANCREAS)|G12C(NCIH1373_LUNG)|G12C(NCIH1792_LUNG)|G12C(NCIH2030_LUNG)|G12C(NCIH2122_LUNG)|G12C(NCIH23_LUNG)|G12C(NCIH358_LUNG)|G12C(OV56_OVARY)|G12C(SW1463_LARGE_INTESTINE)|G12C(SW1573_LUNG)|G12C(SW837_LARGE_INTESTINE)|G12C(UMUC3_URINARY_TRACT)|G12R(CAL62_THYROID)|G12R(HS274T_BREAST)|G12R(HUPT3_PANCREAS)|G12R(KP2_PANCREAS)|G12R(PSN1_PANCREAS)|G12R(TCCPAN2_PANCREAS)|G12S(A549_LUNG)|G12S(KMS20_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12S(LS123_LARGE_INTESTINE) 119 Mis """pancreatic, colorectal, lung, thyroid, AML, others""" Noonan syndrome;Cardiofaciocutaneous syndrome TSP Lung(1;<1E-08)|Multiple Myeloma(2;<1E-6) 72 131 0 0 1 0 0 SST 6750 broad.mit.edu 37 3 187387014 187387014 + Missense_Mutation SNP C C T TCGA-F2-A8YN-01A-11D-A377-08 TCGA-F2-A8YN-10A-01D-A37A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3481a872-1f51-4fdd-95ec-c3ad9ffc9040 eacf769d-bf42-4c1a-854a-a966923cf00b g.chr3:187387014C>T ENST00000287641.3 - 2 297 c.190G>A c.(190-192)Gag>Aag p.E64K NM_001048.3 NP_001039.1 P61278 SMS_HUMAN somatostatin 64 digestion|G-protein coupled receptor protein signaling pathway|induction of apoptosis by hormones|negative regulation of cell proliferation|response to nutrient|synaptic transmission extracellular space hormone activity kidney(1)|large_intestine(1)|lung(6)|pancreas(1) 9 all_cancers(143;4.06e-12)|Ovarian(172;0.0418) OV - Ovarian serous cystadenocarcinoma(80;1.76e-18) GBM - Glioblastoma multiforme(93;0.00444) Bromocriptine(DB01200)|Cysteamine(DB00847) GCATCATTCTCCGTCTGGTTG 0.522000 177 913 0 0 1 0 0 NPIPA5 100288332 broad.mit.edu 37 16 15457754 15457754 + Missense_Mutation SNP T T G rs148628178 by1000genomes TCGA-F2-A8YN-01A-11D-A377-08 TCGA-F2-A8YN-10A-01D-A37A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3481a872-1f51-4fdd-95ec-c3ad9ffc9040 eacf769d-bf42-4c1a-854a-a966923cf00b g.chr16:15457754T>G ENST00000360151.4 - 8 814 c.815A>C c.(814-816)tAt>tCt p.Y272S NM_001277325.1 NP_001264254.1 nuclear pore complex interacting protein family, member A5 TGGAAGGGGATAGAGCAGACG 0.517000 6 728 0 0 1 0 0 MAML3 55534 broad.mit.edu 37 4 140811099 140811099 + Splice_Site SNP C C T TCGA-F2-A8YN-01A-11D-A377-08 TCGA-F2-A8YN-10A-01D-A37A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3481a872-1f51-4fdd-95ec-c3ad9ffc9040 eacf769d-bf42-4c1a-854a-a966923cf00b g.chr4:140811099C>T ENST00000398940.1 - 1 107 c.108_splice c.e1+1 p.Q36_splice MAML3_ENST00000327122.5_Silent_p.Q341Q|MAML3_ENST00000509479.2_Silent_p.Q497Q Q96JK9 MAML3_HUMAN mastermind-like 3 (Drosophila) 497 Notch signaling pathway|positive regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent nuclear speck transcription coactivator activity p.Q497Q(2) breast(1)|endometrium(7)|kidney(2)|large_intestine(1)|lung(9)|ovary(1)|prostate(2)|urinary_tract(2) 25 all_hematologic(180;0.162) gctgctgctgctgctgctgct 0.542000 6 143 0 0 1 0 0 RP11-24M17.5 0 broad.mit.edu 37 15 76074470 76074470 + RNA SNP A A G TCGA-F2-A8YN-01A-11D-A377-08 TCGA-F2-A8YN-10A-01D-A37A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3481a872-1f51-4fdd-95ec-c3ad9ffc9040 eacf769d-bf42-4c1a-854a-a966923cf00b g.chr15:76074470A>G ENST00000395215.3 + 0 649 p.Q203R(4) CGGTTACAGCAGACCATAAAG 0.577000 15 148 0 0 1 0 0 ROBO1 6091 broad.mit.edu 37 3 78666997 78666997 + Missense_Mutation SNP G G T TCGA-F2-A8YN-01A-11D-A377-08 TCGA-F2-A8YN-10A-01D-A37A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3481a872-1f51-4fdd-95ec-c3ad9ffc9040 eacf769d-bf42-4c1a-854a-a966923cf00b g.chr3:78666997G>T ENST00000436010.2 - 25 4950 c.3953C>A c.(3952-3954)tCc>tAc p.S1318Y ROBO1_ENST00000495273.1_Missense_Mutation_p.S1312Y|ROBO1_ENST00000464233.1_Missense_Mutation_p.S1357Y|ROBO1_ENST00000467549.1_Missense_Mutation_p.S1257Y Q9Y6N7 ROBO1_HUMAN roundabout, axon guidance receptor, homolog 1 (Drosophila) 1357 activation of caspase activity|axon midline choice point recognition|cell migration involved in sprouting angiogenesis|chemorepulsion involved in postnatal olfactory bulb interneuron migration|homophilic cell adhesion|negative regulation of chemokine-mediated signaling pathway|negative regulation of mammary gland epithelial cell proliferation|negative regulation of negative chemotaxis|positive regulation of axonogenesis|Roundabout signaling pathway cell surface|cytoplasm|integral to plasma membrane axon guidance receptor activity|identical protein binding|LRR domain binding breast(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(2)|lung(25)|urinary_tract(1) 44 Lung SC(41;0.0257)|Lung NSC(201;0.0439) LUSC - Lung squamous cell carcinoma(21;0.008)|Epithelial(33;0.00999)|Lung(72;0.0177)|BRCA - Breast invasive adenocarcinoma(55;0.0274) CCCAACACTGGAGGCAGGTGT 0.572000 9 194 0.000442599 0.000452057 1 1 0 CYP2A7 1549 broad.mit.edu 37 19 41383142 41383142 + Missense_Mutation SNP G G A rs151290022 TCGA-F2-A8YN-01A-11D-A377-08 TCGA-F2-A8YN-10A-01D-A37A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3481a872-1f51-4fdd-95ec-c3ad9ffc9040 eacf769d-bf42-4c1a-854a-a966923cf00b g.chr19:41383142G>A ENST00000301146.4 - 7 1655 c.1114C>T c.(1114-1116)Cgc>Tgc p.R372C CYP2A7_ENST00000291764.3_Missense_Mutation_p.R321C|CTC-490E21.12_ENST00000601627.1_Intron NM_000764.2 NP_000755.2 P20853 CP2A7_HUMAN cytochrome P450, family 2, subfamily A, polypeptide 7 372 endoplasmic reticulum membrane|microsome aromatase activity|electron carrier activity|heme binding|oxygen binding endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(6)|lung(7)|ovary(4)|pancreas(1)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 27 LUSC - Lung squamous cell carcinoma(20;0.000219)|Lung(22;0.000959) TTAACCCTGCGGGCCAAACTC 0.547000 118 314 0 0 1 0 0 SP140 11262 broad.mit.edu 37 2 231174695 231174695 + Silent SNP C C T TCGA-F2-A8YN-01A-11D-A377-08 TCGA-F2-A8YN-10A-01D-A37A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3481a872-1f51-4fdd-95ec-c3ad9ffc9040 eacf769d-bf42-4c1a-854a-a966923cf00b g.chr2:231174695C>T ENST00000392045.3 + 23 2229 c.2115C>T c.(2113-2115)tgC>tgT p.C705C SP140_ENST00000417495.3_Silent_p.C591C|SP140_ENST00000350136.5_Silent_p.C574C|SP140_ENST00000486687.2_Silent_p.C629C|SP140_ENST00000420434.3_Silent_p.C678C|SP140_ENST00000343805.6_Silent_p.C645C NM_007237.4 NP_009168.4 Q13342 LY10_HUMAN SP140 nuclear body protein 705 defense response cytoplasm|nuclear envelope|nucleolus|nucleoplasm DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding p.C705C(1) NS(1)|kidney(1)|large_intestine(3)|lung(5)|ovary(1)|skin(1) 12 Renal(207;0.0112)|all_lung(227;0.0221)|Lung NSC(271;0.0977)|all_hematologic(139;0.103)|Acute lymphoblastic leukemia(138;0.167) Epithelial(121;1.13e-12)|all cancers(144;2.71e-10)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(119;0.00942) TGTTCTGTTGCGACACTTGTT 0.512000 101 334 0 0 1 0 0 KRTAP4-11 653240 broad.mit.edu 37 17 39274087 39274087 + Missense_Mutation SNP G G C rs141357429 by1000genomes TCGA-F2-A8YN-01A-11D-A377-08 TCGA-F2-A8YN-10A-01D-A37A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3481a872-1f51-4fdd-95ec-c3ad9ffc9040 eacf769d-bf42-4c1a-854a-a966923cf00b g.chr17:39274087G>C ENST00000391413.2 - 1 519 c.481C>G c.(481-483)Ctg>Gtg p.L161V NM_033059.3 NP_149048.2 Q9BYQ6 KR411_HUMAN keratin associated protein 4-11 161 27 X 5 AA repeats of C-C-[GIKRQVHEL]- [SPTR]-[STVQRMC]. keratin filament p.L161V(1) endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|lung(8)|prostate(5)|skin(1) 33 Breast(137;0.000496) STAD - Stomach adenocarcinoma(17;0.000371) ACTGGACGCAGGcagcagcag 0.657000 10 45 0 0 1 0 0 TCP10 6953 broad.mit.edu 37 6 167796320 167796320 + Silent SNP G G A TCGA-F2-A8YN-01A-11D-A377-08 TCGA-F2-A8YN-10A-01D-A37A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3481a872-1f51-4fdd-95ec-c3ad9ffc9040 eacf769d-bf42-4c1a-854a-a966923cf00b g.chr6:167796320G>A ENST00000366827.2 - 2 253 c.42C>T c.(40-42)gaC>gaT p.D14D TCP10_ENST00000476779.2_Silent_p.D14D|TCP10_ENST00000397829.4_Silent_p.D14D Q12799 TCP10_HUMAN t-complex 10 41 cytosol NS(1)|breast(1)|central_nervous_system(1)|endometrium(2)|kidney(5)|large_intestine(2)|lung(6) 18 Breast(66;1.53e-05)|Ovarian(120;0.024) OV - Ovarian serous cystadenocarcinoma(33;4.05e-20)|BRCA - Breast invasive adenocarcinoma(81;1.1e-06)|GBM - Glioblastoma multiforme(31;0.0386) CGGCATTGCTGTCCTCCCTGG 0.652000 4 85 0 0 1 0 0 ZNF845 91664 broad.mit.edu 37 19 53856761 53856761 + Missense_Mutation SNP T T C TCGA-F2-A8YN-01A-11D-A377-08 TCGA-F2-A8YN-10A-01D-A37A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3481a872-1f51-4fdd-95ec-c3ad9ffc9040 eacf769d-bf42-4c1a-854a-a966923cf00b g.chr19:53856761T>C ENST00000458035.1 + 4 2950 c.2833T>C c.(2833-2835)Tgt>Cgt p.C945R ZNF845_ENST00000595091.1_Missense_Mutation_p.C945R NM_138374.1 NP_612383.1 Q96IR2 ZN845_HUMAN zinc finger protein 845 945 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding p.C945R(1) endometrium(2)|kidney(10)|lung(7)|pancreas(1)|prostate(1)|skin(2)|stomach(1)|urinary_tract(2) 26 ACCTTACAAGTGTAATGAATG 0.348000 7 167 0 0 1 0 0 GRIN2B 2904 broad.mit.edu 37 12 13716777 13716777 + Missense_Mutation SNP A A T TCGA-F2-A8YN-01A-11D-A377-08 TCGA-F2-A8YN-10A-01D-A37A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3481a872-1f51-4fdd-95ec-c3ad9ffc9040 eacf769d-bf42-4c1a-854a-a966923cf00b g.chr12:13716777A>T ENST00000279593.3 - 13 3604 c.3395T>A c.(3394-3396)tTc>tAc p.F1132Y NM_000834.3 NP_000825.2 Q13224 NMDE2_HUMAN glutamate receptor, ionotropic, N-methyl D-aspartate 2B 1132 response to ethanol cell junction|N-methyl-D-aspartate selective glutamate receptor complex|outer membrane-bounded periplasmic space|postsynaptic membrane glycine binding|N-methyl-D-aspartate selective glutamate receptor activity|zinc ion binding NS(1)|breast(3)|central_nervous_system(5)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(3)|kidney(12)|large_intestine(12)|liver(1)|lung(70)|ovary(4)|prostate(6)|skin(10)|upper_aerodigestive_tract(5)|urinary_tract(1) 143 Felbamate(DB00949)|Haloperidol(DB00502)|L-Glutamic Acid(DB00142)|Loperamide(DB00836)|Memantine(DB01043) GTCCAGGTAGAAGTCCCGTAG 0.597000 6 185 0 0 1 0 0 BTN2A2 10385 broad.mit.edu 37 6 26390289 26390289 + Missense_Mutation SNP G G A TCGA-F2-A8YN-01A-11D-A377-08 TCGA-F2-A8YN-10A-01D-A37A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3481a872-1f51-4fdd-95ec-c3ad9ffc9040 eacf769d-bf42-4c1a-854a-a966923cf00b g.chr6:26390289G>A ENST00000356709.4 + 5 892 c.781G>A c.(781-783)Gca>Aca p.A261T BTN2A2_ENST00000432533.2_Missense_Mutation_p.A167T|BTN2A2_ENST00000416795.2_Missense_Mutation_p.A261T|BTN2A2_ENST00000469230.1_Missense_Mutation_p.A261T|BTN2A2_ENST00000352867.2_Missense_Mutation_p.A145T|BTN2A2_ENST00000482536.1_Missense_Mutation_p.A51T NM_001197240.1|NM_006995.4 NP_001184169.1|NP_008926.2 Q8WVV5 BT2A2_HUMAN butyrophilin, subfamily 2, member A2 261 negative regulation of activated T cell proliferation|negative regulation of cellular metabolic process|negative regulation of cytokine secretion integral to membrane breast(2)|endometrium(3)|large_intestine(5)|lung(13) 23 CATCCTGACCGCATCTCCCTG 0.463000 5 509 0 0 1 0 0 WASH2P 0 broad.mit.edu 37 2 114355998 114355998 + RNA SNP C C G TCGA-F2-A8YN-01A-11D-A377-08 TCGA-F2-A8YN-10A-01D-A37A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3481a872-1f51-4fdd-95ec-c3ad9ffc9040 eacf769d-bf42-4c1a-854a-a966923cf00b g.chr2:114355998C>G ENST00000538033.2 + 0 2178 CCAAGGTGGGCACTTGATGTC 0.612000 5 41 0 0 1 0 0 TNXB 7148 broad.mit.edu 37 6 32017099 32017099 + Silent SNP G G A TCGA-F2-A8YN-01A-11D-A377-08 TCGA-F2-A8YN-10A-01D-A37A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3481a872-1f51-4fdd-95ec-c3ad9ffc9040 eacf769d-bf42-4c1a-854a-a966923cf00b g.chr6:32017099G>A ENST00000375244.3 - 28 9906 c.9705C>T c.(9703-9705)taC>taT p.Y3235Y TNXB_ENST00000375247.2_Silent_p.Y3233Y P22105 TENX_HUMAN tenascin XB 3280 Fibronectin type-III 24. actin cytoskeleton organization|cell adhesion|collagen metabolic process|elastic fiber assembly|signal transduction extracellular space|intracellular|proteinaceous extracellular matrix heparin binding|integrin binding endometrium(1)|kidney(1)|large_intestine(1)|lung(4)|prostate(1) 8 CGTGGAGGCCGTACAGATGCA 0.697000 11 339 0 0 1 0 0 PKLR 5313 broad.mit.edu 37 1 155262971 155262971 + Missense_Mutation SNP C C T TCGA-F2-A8YN-01A-11D-A377-08 TCGA-F2-A8YN-10A-01D-A37A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3481a872-1f51-4fdd-95ec-c3ad9ffc9040 eacf769d-bf42-4c1a-854a-a966923cf00b g.chr1:155262971C>T ENST00000392414.3 - 9 1453 c.1340G>A c.(1339-1341)gGc>gAc p.G447D PKLR_ENST00000342741.4_Missense_Mutation_p.G478D NM_181871.3 NP_870986.1 P30613 KPYR_HUMAN pyruvate kinase, liver and RBC 478 endocrine pancreas development|energy reserve metabolic process|glycolysis|positive regulation of cellular metabolic process cytosol ATP binding|magnesium ion binding|potassium ion binding|pyruvate kinase activity NS(1)|autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(4)|lung(16)|ovary(1)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1) 35 all_lung(78;6.99e-23)|Hepatocellular(266;0.0877)|all_hematologic(923;0.145) Epithelial(20;3.18e-10)|all cancers(21;7.9e-10)|BRCA - Breast invasive adenocarcinoma(34;0.00116)|LUSC - Lung squamous cell carcinoma(543;0.127) Pyruvic acid(DB00119) CCCTCACCGGCCAGTTGTGGT 0.607000 9 352 0 0 1 0 0 ARID1A 8289 broad.mit.edu 37 1 27101098 27101098 + Silent SNP C C T TCGA-F2-A8YN-01A-11D-A377-08 TCGA-F2-A8YN-10A-01D-A37A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3481a872-1f51-4fdd-95ec-c3ad9ffc9040 eacf769d-bf42-4c1a-854a-a966923cf00b g.chr1:27101098C>T ENST00000324856.7 + 18 4751 c.4380C>T c.(4378-4380)ggC>ggT p.G1460G ARID1A_ENST00000457599.2_Intron|ARID1A_ENST00000540690.1_Intron|ARID1A_ENST00000374152.2_Silent_p.G1077G NM_006015.4 NP_006006.3 O14497 ARI1A_HUMAN AT rich interactive domain 1A (SWI-like) 1460 androgen receptor signaling pathway|chromatin-mediated maintenance of transcription|estrogen receptor signaling pathway|glucocorticoid receptor signaling pathway|nervous system development|nucleosome mobilization|transcription, DNA-dependent nBAF complex|npBAF complex|SWI/SNF complex DNA binding|protein binding ARID1A/MAST2_ENST00000361297(2) NS(1)|autonomic_ganglia(1)|biliary_tract(1)|breast(13)|central_nervous_system(6)|cervix(2)|endometrium(56)|haematopoietic_and_lymphoid_tissue(8)|kidney(10)|large_intestine(41)|liver(31)|lung(34)|ovary(130)|pancreas(18)|prostate(8)|skin(9)|stomach(14)|upper_aerodigestive_tract(4)|urinary_tract(24) 411 all_cancers(24;6.36e-27)|all_epithelial(13;5.93e-24)|Colorectal(325;3.46e-05)|all_lung(284;4.76e-05)|Lung NSC(340;5.83e-05)|Breast(348;9.7e-05)|Renal(390;0.0007)|Ovarian(437;0.00473)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0381) UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|all cancers(4;2.61e-56)|Epithelial(14;7.53e-55)|OV - Ovarian serous cystadenocarcinoma(117;4.5e-30)|Colorectal(126;2.07e-09)|COAD - Colon adenocarcinoma(152;4.29e-07)|BRCA - Breast invasive adenocarcinoma(304;4.13e-05)|STAD - Stomach adenocarcinoma(196;0.000279)|KIRC - Kidney renal clear cell carcinoma(1967;0.000794)|GBM - Glioblastoma multiforme(114;0.0132)|READ - Rectum adenocarcinoma(331;0.0469)|Lung(427;0.167)|LUSC - Lung squamous cell carcinoma(448;0.242) TCCAGTTTGGCCGAGACCGTG 0.582000 """Mis, N, F, S, D""" """clear cell ovarian carcinoma, RCC""" 5 350 0 0 1 0 0 FUT9 10690 broad.mit.edu 37 6 96651947 96651947 + Missense_Mutation SNP G G A TCGA-F2-A8YN-01A-11D-A377-08 TCGA-F2-A8YN-10A-01D-A37A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3481a872-1f51-4fdd-95ec-c3ad9ffc9040 eacf769d-bf42-4c1a-854a-a966923cf00b g.chr6:96651947G>A ENST00000302103.5 + 3 1242 c.916G>A c.(916-918)Gac>Aac p.D306N NM_006581.3 NP_006572.2 Q9Y231 FUT9_HUMAN fucosyltransferase 9 (alpha (1,3) fucosyltransferase) 306 L-fucose catabolic process|protein glycosylation Golgi cisterna membrane|integral to membrane alpha(1,3)-fucosyltransferase activity NS(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(6)|liver(2)|lung(10)|ovary(1)|prostate(2)|skin(6)|upper_aerodigestive_tract(2) 34 all_cancers(76;4.77e-07)|Acute lymphoblastic leukemia(125;4.01e-09)|all_hematologic(75;1.25e-06)|all_epithelial(107;0.00279)|Colorectal(196;0.0356) BRCA - Breast invasive adenocarcinoma(108;0.08) GAAGGAAGTCGACAAAAACAA 0.368000 95 161 0 0 1 0 0 ZNRF3 84133 broad.mit.edu 37 22 29445400 29445400 + Nonsense_Mutation SNP C C T TCGA-F2-A8YN-01A-11D-A377-08 TCGA-F2-A8YN-10A-01D-A37A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3481a872-1f51-4fdd-95ec-c3ad9ffc9040 eacf769d-bf42-4c1a-854a-a966923cf00b g.chr22:29445400C>T ENST00000544604.2 + 8 1406 c.1231C>T c.(1231-1233)Cag>Tag p.Q411* ZNRF3_ENST00000406323.3_Nonsense_Mutation_p.Q311*|ZNRF3_ENST00000402174.1_Nonsense_Mutation_p.Q311*|ZNRF3_ENST00000332811.4_Nonsense_Mutation_p.Q311* NM_001206998.1 NP_001193927.1 Q9ULT6 ZNRF3_HUMAN zinc and ring finger 3 411 integral to membrane zinc ion binding NS(1)|breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|liver(4)|lung(9)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(2) 28 CTATTCCCCGCAGACCCCCGC 0.682000 55 144 0 0 1 0 0 ROBO1 6091 broad.mit.edu 37 3 78666996 78666996 + Silent SNP G G A TCGA-F2-A8YN-01A-11D-A377-08 TCGA-F2-A8YN-10A-01D-A37A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3481a872-1f51-4fdd-95ec-c3ad9ffc9040 eacf769d-bf42-4c1a-854a-a966923cf00b g.chr3:78666996G>A ENST00000436010.2 - 25 4951 c.3954C>T c.(3952-3954)tcC>tcT p.S1318S ROBO1_ENST00000495273.1_Silent_p.S1312S|ROBO1_ENST00000464233.1_Silent_p.S1357S|ROBO1_ENST00000467549.1_Silent_p.S1257S Q9Y6N7 ROBO1_HUMAN roundabout, axon guidance receptor, homolog 1 (Drosophila) 1357 activation of caspase activity|axon midline choice point recognition|cell migration involved in sprouting angiogenesis|chemorepulsion involved in postnatal olfactory bulb interneuron migration|homophilic cell adhesion|negative regulation of chemokine-mediated signaling pathway|negative regulation of mammary gland epithelial cell proliferation|negative regulation of negative chemotaxis|positive regulation of axonogenesis|Roundabout signaling pathway cell surface|cytoplasm|integral to plasma membrane axon guidance receptor activity|identical protein binding|LRR domain binding breast(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(2)|lung(25)|urinary_tract(1) 44 Lung SC(41;0.0257)|Lung NSC(201;0.0439) LUSC - Lung squamous cell carcinoma(21;0.008)|Epithelial(33;0.00999)|Lung(72;0.0177)|BRCA - Breast invasive adenocarcinoma(55;0.0274) CCCCAACACTGGAGGCAGGTG 0.572000 9 193 0 0 1 0 0 TRPC4 7223 broad.mit.edu 37 13 38211315 38211315 + Missense_Mutation SNP C C G TCGA-F2-A8YN-01A-11D-A377-08 TCGA-F2-A8YN-10A-01D-A37A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3481a872-1f51-4fdd-95ec-c3ad9ffc9040 eacf769d-bf42-4c1a-854a-a966923cf00b g.chr13:38211315C>G ENST00000379705.3 - 11 3516 c.2659G>C c.(2659-2661)Gaa>Caa p.E887Q TRPC4_ENST00000447043.1_Missense_Mutation_p.E746Q|TRPC4_ENST00000379673.2_Missense_Mutation_p.E738Q|TRPC4_ENST00000379681.3_Missense_Mutation_p.E892Q|TRPC4_ENST00000338947.5_Missense_Mutation_p.E714Q|TRPC4_ENST00000358477.2_Missense_Mutation_p.E803Q|TRPC4_ENST00000355779.2_Missense_Mutation_p.E746Q|TRPC4_ENST00000379679.1_Missense_Mutation_p.E714Q|TRPC4_ENST00000426868.2_3'UTR Q9UBN4 TRPC4_HUMAN transient receptor potential cation channel, subfamily C, member 4 887 Binds to ITPR1, ITPR2 and ITPR3. axon guidance|calcium ion import basolateral plasma membrane|calcium channel complex|cell surface|cortical cytoskeleton beta-catenin binding|cadherin binding|store-operated calcium channel activity NS(2)|breast(4)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(26)|lung(30)|ovary(4)|prostate(1)|skin(4)|urinary_tract(2) 83 all cancers(112;1.92e-08)|Epithelial(112;5.04e-06)|OV - Ovarian serous cystadenocarcinoma(117;0.000677)|GBM - Glioblastoma multiforme(144;0.00623)|BRCA - Breast invasive adenocarcinoma(63;0.0126) CCTCGAGATTCCAGTTGAATA 0.458000 96 277 0 0 1 0 0 RBM12 10137 broad.mit.edu 37 20 34241168 34241168 + Missense_Mutation SNP G G A TCGA-F2-A8YN-01A-11D-A377-08 TCGA-F2-A8YN-10A-01D-A37A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3481a872-1f51-4fdd-95ec-c3ad9ffc9040 eacf769d-bf42-4c1a-854a-a966923cf00b g.chr20:34241168G>A ENST00000374114.3 - 3 2340 c.2077C>T c.(2077-2079)Ccc>Tcc p.P693S CPNE1_ENST00000317619.3_Intron|CPNE1_ENST00000397445.1_Intron|CPNE1_ENST00000397443.1_Intron|RBM12_ENST00000374104.3_Missense_Mutation_p.P693S|CPNE1_ENST00000397446.1_Intron|RBM12_ENST00000359646.1_Missense_Mutation_p.P693S|CPNE1_ENST00000317677.5_Intron|CPNE1_ENST00000397442.1_Intron|CPNE1_ENST00000352393.4_Intron NM_001198838.1|NM_001198840.1|NM_006047.5 NP_001185767.1|NP_001185769.1|NP_006038.2 Q9NTZ6 RBM12_HUMAN RNA binding motif protein 12 693 Gly-rich.|Pro-rich. nucleus nucleotide binding|protein binding|RNA binding breast(3)|endometrium(7)|kidney(1)|large_intestine(3)|lung(14)|ovary(3)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 36 Lung NSC(9;0.00608)|all_lung(11;0.00918) BRCA - Breast invasive adenocarcinoma(18;0.00953) CCTGCACTGGGCATTCCCGCA 0.557000 6 671 0 0 1 0 0 TUBBP5 0 broad.mit.edu 37 9 141070915 141070915 + RNA SNP C C T TCGA-F2-A8YN-01A-11D-A377-08 TCGA-F2-A8YN-10A-01D-A37A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3481a872-1f51-4fdd-95ec-c3ad9ffc9040 eacf769d-bf42-4c1a-854a-a966923cf00b g.chr9:141070915C>T ENST00000503395.1 + 0 1690 p.T178T(1) TGTCAGACACCGTGGTGGAGC 0.522000 7 479 0 0 1 0 0 OLIG3 167826 broad.mit.edu 37 6 137815036 137815036 + Missense_Mutation SNP C C T TCGA-F2-A8YN-01A-11D-A377-08 TCGA-F2-A8YN-10A-01D-A37A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3481a872-1f51-4fdd-95ec-c3ad9ffc9040 eacf769d-bf42-4c1a-854a-a966923cf00b g.chr6:137815036C>T ENST00000367734.2 - 1 495 c.272G>A c.(271-273)cGc>cAc p.R91H NM_175747.2 NP_786923.1 Q7RTU3 OLIG3_HUMAN oligodendrocyte transcription factor 3 91 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding endometrium(2)|large_intestine(2)|lung(5)|ovary(1)|upper_aerodigestive_tract(1) 11 Breast(32;0.165)|Colorectal(23;0.24) GBM - Glioblastoma multiforme(68;0.00161)|OV - Ovarian serous cystadenocarcinoma(155;0.00447) CTTGCGTTCGCGTCCGTTGAT 0.617000 78 480 0 0 1 0 0 ARHGEF11 9826 broad.mit.edu 37 1 156926239 156926239 + Nonsense_Mutation SNP C C T TCGA-F2-A8YN-01A-11D-A377-08 TCGA-F2-A8YN-10A-01D-A37A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3481a872-1f51-4fdd-95ec-c3ad9ffc9040 eacf769d-bf42-4c1a-854a-a966923cf00b g.chr1:156926239C>T ENST00000368194.3 - 19 2683 c.1644G>A c.(1642-1644)tgG>tgA p.W548* ARHGEF11_ENST00000361409.2_Nonsense_Mutation_p.W508* NM_198236.2 NP_937879.1 O15085 ARHGB_HUMAN Rho guanine nucleotide exchange factor (GEF) 11 508 actin cytoskeleton organization|apoptosis|axon guidance|cellular component movement|cytokinesis|establishment of cell polarity|G-protein coupled receptor protein signaling pathway|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|positive regulation of transcription, DNA-dependent|regulation of cell growth|regulation of Rho protein signal transduction|Rho protein signal transduction|striated muscle contraction cytosol|Golgi apparatus|plasma membrane G-protein-coupled receptor binding|GTPase activator activity|Rho guanyl-nucleotide exchange factor activity|signal transducer activity NS(1)|breast(3)|central_nervous_system(3)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(15)|lung(27)|ovary(4)|pancreas(2)|pleura(1)|prostate(4)|skin(7)|stomach(1)|urinary_tract(2) 81 all_hematologic(923;0.0839)|Hepatocellular(266;0.158) AGAACGGTAGCCACTTGTCCT 0.552000 15 623 0 0 1 0 0 KBTBD8 84541 broad.mit.edu 37 3 67054666 67054666 + Silent SNP C C T TCGA-F2-A8YN-01A-11D-A377-08 TCGA-F2-A8YN-10A-01D-A37A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3481a872-1f51-4fdd-95ec-c3ad9ffc9040 eacf769d-bf42-4c1a-854a-a966923cf00b g.chr3:67054666C>T ENST00000295568.4 + 3 1328 c.1197C>T c.(1195-1197)tgC>tgT p.C399C KBTBD8_ENST00000417314.2_Silent_p.C425C|KBTBD8_ENST00000460576.1_Intron NM_032505.2 NP_115894.2 Q8NFY9 KBTB8_HUMAN kelch repeat and BTB (POZ) domain containing 8 425 breast(1)|endometrium(1)|kidney(4)|large_intestine(7)|lung(4)|ovary(2)|prostate(1) 20 Lung NSC(201;0.0765) BRCA - Breast invasive adenocarcinoma(55;6.02e-06)|KIRC - Kidney renal clear cell carcinoma(39;0.105)|Kidney(39;0.125) CGACTGTTTGCGCGATGCCAG 0.413000 6 747 0 0 1 0 0 FAT3 120114 broad.mit.edu 37 11 92577374 92577374 + Missense_Mutation SNP G G A TCGA-F2-A8YN-01A-11D-A377-08 TCGA-F2-A8YN-10A-01D-A37A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3481a872-1f51-4fdd-95ec-c3ad9ffc9040 eacf769d-bf42-4c1a-854a-a966923cf00b g.chr11:92577374G>A ENST00000298047.6 + 18 10858 c.10841G>A c.(10840-10842)gGc>gAc p.G3614D FAT3_ENST00000409404.2_Missense_Mutation_p.G3614D|FAT3_ENST00000525166.1_Missense_Mutation_p.G3464D Q8TDW7 FAT3_HUMAN FAT atypical cadherin 3 3614 Cadherin 33. homophilic cell adhesion|multicellular organismal development integral to membrane|plasma membrane calcium ion binding NS(1)|breast(2)|endometrium(10)|kidney(4)|large_intestine(11)|liver(2)|lung(37)|ovary(5)|pancreas(1)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(5) 85 Acute lymphoblastic leukemia(157;3.01e-05)|all_hematologic(158;0.00858) CTGGACAGCGGCAAGTATGTC 0.498000 TCGA Ovarian(4;0.039) 6 989 0 0 1 0 0 HLA-A 3105 broad.mit.edu 37 6 29910693 29910693 + Missense_Mutation SNP A A G rs41559716 by1000genomes TCGA-F2-A8YN-01A-11D-A377-08 TCGA-F2-A8YN-10A-01D-A37A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3481a872-1f51-4fdd-95ec-c3ad9ffc9040 eacf769d-bf42-4c1a-854a-a966923cf00b g.chr6:29910693A>G ENST00000396634.1 + 4 574 c.233A>G c.(232-234)cAg>cGg p.Q78R HLA-A_ENST00000376806.5_Missense_Mutation_p.Q78R|HLA-A_ENST00000376809.5_Missense_Mutation_p.Q78R|HLA-A_ENST00000376802.2_Missense_Mutation_p.Q78R P30443 1A01_HUMAN major histocompatibility complex, class I, A 78 Alpha-1. antigen processing and presentation of peptide antigen via MHC class I|interferon-gamma-mediated signaling pathway|interspecies interaction between organisms|regulation of immune response|type I interferon-mediated signaling pathway integral to plasma membrane|MHC class I protein complex MHC class I receptor activity p.Q78R(2) central_nervous_system(2)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(10)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(5)|urinary_tract(2) 30 TGGATAGAGCAGGAGGGGCCG 0.657000 Osteosarcoma, Familial Clustering of;Naso-/Oropharyngeal/Laryngeal Cancer, Familial Clustering of;Melanoma, Familial Clustering of;Lichen Sclerosis et Atrophicus, Familial Clustering of Multiple Myeloma(9;0.094) 35 176 0 0 1 0 0 MYLK 4638 broad.mit.edu 37 3 123419230 123419230 + Missense_Mutation SNP C C T TCGA-F2-A8YN-01A-11D-A377-08 TCGA-F2-A8YN-10A-01D-A37A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3481a872-1f51-4fdd-95ec-c3ad9ffc9040 eacf769d-bf42-4c1a-854a-a966923cf00b g.chr3:123419230C>T ENST00000360772.3 - 19 3463 c.3085G>A c.(3085-3087)Gcc>Acc p.A1029T MYLK_ENST00000475616.1_Missense_Mutation_p.A1029T|MYLK_ENST00000360304.3_Missense_Mutation_p.A1029T|MYLK_ENST00000359169.1_Missense_Mutation_p.A1029T|MYLK_ENST00000346322.5_Missense_Mutation_p.A960T Q15746 MYLK_HUMAN myosin light chain kinase 1029 6 X 12 AA approximate tandem repeats. aorta smooth muscle tissue morphogenesis|muscle contraction cytosol actin binding|ATP binding|calmodulin binding|metal ion binding|myosin light chain kinase activity NS(2)|breast(4)|central_nervous_system(1)|endometrium(24)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(17)|lung(37)|ovary(7)|prostate(3)|skin(5)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(2) 113 Lung NSC(201;0.0496) GBM - Glioblastoma multiforme(114;0.0736) GCAGGCTTGGCGTTGCCCACG 0.607000 201 543 0 0 1 0 0 BCL11A 53335 broad.mit.edu 37 2 60688454 60688454 + Silent SNP G G A TCGA-F2-A8YN-01A-11D-A377-08 TCGA-F2-A8YN-10A-01D-A37A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3481a872-1f51-4fdd-95ec-c3ad9ffc9040 eacf769d-bf42-4c1a-854a-a966923cf00b g.chr2:60688454G>A ENST00000335712.6 - 4 1820 c.1593C>T c.(1591-1593)ggC>ggT p.G531G BCL11A_ENST00000358510.4_Silent_p.G497G|BCL11A_ENST00000356842.4_Silent_p.G531G|BCL11A_ENST00000477659.1_5'UTR|BCL11A_ENST00000359629.5_Intron|BCL11A_ENST00000538214.1_Silent_p.G497G|BCL11A_ENST00000537768.1_Silent_p.G200G NM_022893.3 NP_075044.2 Q9H165 BC11A_HUMAN B-cell CLL/lymphoma 11A (zinc finger protein) 531 negative regulation of axon extension|negative regulation of collateral sprouting|negative regulation of dendrite development|positive regulation of collateral sprouting|positive regulation of neuron projection development|positive regulation of transcription from RNA polymerase II promoter|protein sumoylation|regulation of dendrite development|regulation of transcription, DNA-dependent|transcription, DNA-dependent cytoplasm|nucleus nucleic acid binding|protein heterodimerization activity|protein homodimerization activity|zinc ion binding NS(1)|breast(6)|central_nervous_system(6)|endometrium(4)|kidney(1)|large_intestine(8)|lung(25)|ovary(2)|pancreas(1)|prostate(2)|skin(3) 59 LUSC - Lung squamous cell carcinoma(5;9.29e-08)|Lung(5;1.34e-06)|Epithelial(17;0.0562)|all cancers(80;0.199) CCACGACCGCGCCCCGCGAGC 0.697000 T IGH@ B-CLL 4 68 0 0 1 0 0 CSRNP1 64651 broad.mit.edu 37 3 39186715 39186715 + Missense_Mutation SNP G G A TCGA-F2-A8YN-01A-11D-A377-08 TCGA-F2-A8YN-10A-01D-A37A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3481a872-1f51-4fdd-95ec-c3ad9ffc9040 eacf769d-bf42-4c1a-854a-a966923cf00b g.chr3:39186715G>A ENST00000273153.5 - 3 415 c.238C>T c.(238-240)Cgc>Tgc p.R80C CSRNP1_ENST00000514182.1_Missense_Mutation_p.R80C NM_033027.3 NP_149016.2 Q96S65 CSRN1_HUMAN cysteine-serine-rich nuclear protein 1 80 apoptosis|positive regulation of transcription from RNA polymerase II promoter nucleus DNA binding|sequence-specific DNA binding transcription factor activity central_nervous_system(3)|endometrium(4)|kidney(1)|large_intestine(5)|lung(3)|ovary(5)|skin(3) 24 CGGCCTGGGCGCTCCCGGCGA 0.577000 8 214 0 0 1 0 0 SEPHS2 22928 broad.mit.edu 37 16 30456111 30456111 + Missense_Mutation SNP G G A TCGA-F2-A8YN-01A-11D-A377-08 TCGA-F2-A8YN-10A-01D-A37A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3481a872-1f51-4fdd-95ec-c3ad9ffc9040 eacf769d-bf42-4c1a-854a-a966923cf00b g.chr16:30456111G>A ENST00000478753.2 - 1 1391 c.938C>T c.(937-939)gCg>gTg p.A313V SEPHS2_ENST00000542752.1_Missense_Mutation_p.A256V|SEPHS2_ENST00000500504.2_Missense_Mutation_p.A313V Q99611 SPS2_HUMAN selenophosphate synthetase 2 313 selenocysteine biosynthetic process ATP binding|selenide, water dikinase activity breast(3)|cervix(1)|kidney(1)|large_intestine(3)|lung(1)|upper_aerodigestive_tract(1) 10 ATCTGTGGCCGCATGGGCATT 0.448000 5 571 0 0 1 0 0 ASH1L 55870 broad.mit.edu 37 1 155408246 155408246 + Silent SNP A A G TCGA-F2-A8YN-01A-11D-A377-08 TCGA-F2-A8YN-10A-01D-A37A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3481a872-1f51-4fdd-95ec-c3ad9ffc9040 eacf769d-bf42-4c1a-854a-a966923cf00b g.chr1:155408246A>G ENST00000368346.3 - 5 6339 c.5700T>C c.(5698-5700)gtT>gtC p.V1900V ASH1L_ENST00000392403.3_Silent_p.V1900V Q9NR48 ASH1L_HUMAN ash1 (absent, small, or homeotic)-like (Drosophila) 1900 cell-cell signaling|DNA packaging|regulation of transcription, DNA-dependent|transcription from RNA polymerase II promoter chromosome|Golgi apparatus|nucleus|tight junction DNA binding|histone-lysine N-methyltransferase activity|zinc ion binding autonomic_ganglia(1)|breast(4)|central_nervous_system(1)|endometrium(12)|kidney(13)|large_intestine(28)|lung(39)|ovary(2)|pancreas(1)|prostate(6)|skin(11)|upper_aerodigestive_tract(2)|urinary_tract(4) 124 Hepatocellular(266;0.0997)|all_neural(408;0.129)|all_hematologic(923;0.145) Epithelial(20;1.74e-08)|all cancers(21;3.29e-08)|BRCA - Breast invasive adenocarcinoma(34;0.021) CACTCTGAACAACAGCCTCAA 0.453000 107 267 0 0 1 0 0 PCDHGA10 0 broad.mit.edu 37 5 140795043 140795043 + Silent SNP G G A TCGA-F2-A8YN-01A-11D-A377-08 TCGA-F2-A8YN-10A-01D-A37A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3481a872-1f51-4fdd-95ec-c3ad9ffc9040 eacf769d-bf42-4c1a-854a-a966923cf00b g.chr5:140795043G>A ENST00000398610.2 + 1 2301 c.2301G>A c.(2299-2301)tcG>tcA p.S767S PCDHGB1_ENST00000523390.1_Intron|PCDHGB2_ENST00000522605.1_Intron|PCDHGA8_ENST00000398604.2_Intron|PCDHGB4_ENST00000519479.1_Intron|PCDHGA7_ENST00000518325.1_Intron|PCDHGA5_ENST00000518069.1_Intron|PCDHGA1_ENST00000517417.1_Intron|PCDHGA6_ENST00000517434.1_Intron|PCDHGB3_ENST00000576222.1_Intron|PCDHGA2_ENST00000394576.2_Intron|PCDHGA3_ENST00000253812.6_Intron|PCDHGA9_ENST00000573521.1_Intron|PCDHGB6_ENST00000520790.1_Intron|PCDHGA4_ENST00000571252.1_Intron NM_018913.2|NM_032090.1 NP_061736.1|NP_114479.1 breast(1)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|lung(15)|ovary(1)|prostate(4)|upper_aerodigestive_tract(1)|urinary_tract(1) 43 KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191) CCGCGGACTCGCGAAAGAGTC 0.562000 140 651 0 0 1 0 0 HOXA9 3205 broad.mit.edu 37 7 27203297 27203297 + Missense_Mutation SNP C C G TCGA-F2-A8YN-01A-11D-A377-08 TCGA-F2-A8YN-10A-01D-A37A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3481a872-1f51-4fdd-95ec-c3ad9ffc9040 eacf769d-bf42-4c1a-854a-a966923cf00b g.chr7:27203297C>G ENST00000343483.6 - 2 816 c.744G>C c.(742-744)agG>agC p.R248S HOXA9_ENST00000497089.1_5'UTR|RP1-170O19.20_ENST00000470747.4_Missense_Mutation_p.R88S|RP1-170O19.20_ENST00000465941.1_5'UTR|HOXA9_ENST00000396345.1_3'UTR NM_152739.3 NP_689952.1 P31269 HXA9_HUMAN homeobox A9 248 protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity central_nervous_system(1)|endometrium(1)|lung(5)|prostate(1) 8 TCTTGACCTGCCTCTCGGTGA 0.483000 T """NUP98, MSI2""" AML* 25 505 0 0 1 0 0 GLG1 2734 broad.mit.edu 37 16 74640687 74640687 + Silent SNP T T C TCGA-F2-A8YN-01A-11D-A377-08 TCGA-F2-A8YN-10A-01D-A37A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3481a872-1f51-4fdd-95ec-c3ad9ffc9040 eacf769d-bf42-4c1a-854a-a966923cf00b g.chr16:74640687T>C ENST00000422840.2 - 1 305 c.306A>G c.(304-306)ggA>ggG p.G102G GLG1_ENST00000447066.2_Silent_p.G102G|GLG1_ENST00000205061.5_Silent_p.G102G NM_001145667.1 NP_001139139.1 Q92896 GSLG1_HUMAN golgi glycoprotein 1 102 Golgi membrane|integral to membrane receptor binding breast(2)|cervix(2)|endometrium(6)|kidney(8)|large_intestine(6)|lung(28)|ovary(3)|prostate(1)|skin(1) 57 CCCCCGCTCCTCCCCGCCGGG 0.697000 12 53 0 0 1 0 0 IRS4 8471 broad.mit.edu 37 X 107976904 107976904 + Nonsense_Mutation SNP G G A TCGA-F2-A8YN-01A-11D-A377-08 TCGA-F2-A8YN-10A-01D-A37A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3481a872-1f51-4fdd-95ec-c3ad9ffc9040 eacf769d-bf42-4c1a-854a-a966923cf00b g.chrX:107976904G>A ENST00000372129.2 - 1 2747 c.2671C>T c.(2671-2673)Cga>Tga p.R891* NM_003604.2 NP_003595.1 O14654 IRS4_HUMAN insulin receptor substrate 4 891 plasma membrane insulin receptor binding|SH3/SH2 adaptor activity|signal transducer activity NS(1)|breast(2)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(22)|lung(30)|ovary(5)|pancreas(2)|prostate(1)|skin(1) 78 AAAGAAAGTCGGTTAGGTCTC 0.443000 8 696 0 0 1 0 0 NIP7 51388 broad.mit.edu 37 16 69373736 69373736 + Missense_Mutation SNP C C T TCGA-F2-A8YN-01A-11D-A377-08 TCGA-F2-A8YN-10A-01D-A37A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3481a872-1f51-4fdd-95ec-c3ad9ffc9040 eacf769d-bf42-4c1a-854a-a966923cf00b g.chr16:69373736C>T ENST00000254940.5 + 1 404 c.4C>T c.(4-6)Cgg>Tgg p.R2W RP11-343C2.7_ENST00000564737.1_Intron|NIP7_ENST00000569637.2_Missense_Mutation_p.R2W|RP11-343C2.9_ENST00000563634.1_Intron|NIP7_ENST00000254941.6_Missense_Mutation_p.R2W NM_016101.4 NP_057185.1 Q9Y221 NIP7_HUMAN NIP7, nucleolar pre-rRNA processing protein 2 ribosome assembly nucleolus protein binding|RNA binding breast(1)|endometrium(1)|large_intestine(2)|lung(2) 6 Ovarian(137;0.101) GGGAAAAATGCGGCCTTTGAC 0.592000 OREG0023907 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 7 1311 0 0 1 0 0 SYT9 143425 broad.mit.edu 37 11 7437383 7437383 + Silent SNP A A G TCGA-F2-A8YN-01A-11D-A377-08 TCGA-F2-A8YN-10A-01D-A37A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3481a872-1f51-4fdd-95ec-c3ad9ffc9040 eacf769d-bf42-4c1a-854a-a966923cf00b g.chr11:7437383A>G ENST00000318881.6 + 4 1392 c.1155A>G c.(1153-1155)acA>acG p.T385T NM_175733.3 NP_783860.1 Q86SS6 SYT9_HUMAN synaptotagmin IX 385 C2 2. cell junction|integral to membrane|synaptic vesicle membrane metal ion binding|transporter activity NS(1)|endometrium(2)|large_intestine(9)|lung(17)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(2) 38 Epithelial(150;1.34e-07)|LUSC - Lung squamous cell carcinoma(625;0.0949) TGGACATAACAGGAGCATCAG 0.408000 66 300 0 0 1 0 0 ALB 213 broad.mit.edu 37 4 74275113 74275113 + Missense_Mutation SNP C C T TCGA-F2-A8YN-01A-11D-A377-08 TCGA-F2-A8YN-10A-01D-A37A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3481a872-1f51-4fdd-95ec-c3ad9ffc9040 eacf769d-bf42-4c1a-854a-a966923cf00b g.chr4:74275113C>T ENST00000295897.4 + 5 613 c.524C>T c.(523-525)gCc>gTc p.A175V ALB_ENST00000509063.1_Missense_Mutation_p.A175V|ALB_ENST00000415165.2_Intron|ALB_ENST00000503124.1_Missense_Mutation_p.A25V|ALB_ENST00000505649.1_3'UTR|ALB_ENST00000401494.3_Missense_Mutation_p.A60V NM_000477.5 NP_000468.1 P02768 ALBU_HUMAN albumin 175 Albumin 1. bile acid and bile salt transport|bile acid metabolic process|cellular response to starvation|hemolysis by symbiont of host erythrocytes|lipoprotein metabolic process|maintenance of mitochondrion location|negative regulation of apoptosis|platelet activation|platelet degranulation|sodium-independent organic anion transport|transmembrane transport extracellular space|platelet alpha granule lumen|protein complex antioxidant activity|chaperone binding|copper ion binding|DNA binding|drug binding|fatty acid binding|pyridoxal phosphate binding|toxin binding NS(1)|endometrium(4)|kidney(1)|large_intestine(6)|liver(9)|lung(16)|ovary(3)|prostate(2)|skin(4)|stomach(1)|urinary_tract(1) 48 Breast(15;0.00102) Epithelial(6;4.8e-05)|OV - Ovarian serous cystadenocarcinoma(6;0.000263)|all cancers(17;0.000472)|Lung(101;0.103)|LUSC - Lung squamous cell carcinoma(112;0.154) Acenocoumarol(DB01418)|Acitretin(DB00459)|Alfentanil(DB00802)|Aluminium(DB01370)|Auranofin(DB00995)|Bismuth(DB01402)|Captopril(DB01197)|Carboplatin(DB00958)|Cefalotin(DB00456)|Cefazolin(DB01327)|Cefonicid(DB01328)|Cefoperazone(DB01329)|Chlorpheniramine(DB01114)|Chlorpromazine(DB00477)|Ciprofloxacin(DB00537)|Clonazepam(DB01068)|Cloxacillin(DB01147)|Cytarabine(DB00987)|Dantrolene(DB01219)|Diclofenac(DB00586)|Diflunisal(DB00861)|Digitoxin(DB01396)|Estrone(DB00655)|Ethacrynic acid(DB00903)|Etodolac(DB00749)|Flurbiprofen(DB00712)|Gadobenate Dimeglumine(DB00743)|Gatifloxacin(DB01044)|Gliclazide(DB01120)|Halothane(DB01159)|Human Serum Albumin(DB00062)|Hyaluronidase(DB00070)|Ibuprofen(DB01050)|Insulin-detemir(DB01307)|Insulin-glargine(DB01308)|Iodipamide(DB04711)|Ketoprofen(DB01009)|Levamisole(DB00848)|Levothyroxine(DB00451)|Liothyronine(DB00279)|Mefenamic acid(DB00784)|Mephenytoin(DB00532)|Methotrexate(DB00563)|Nortriptyline(DB00540)|Oxazepam(DB00842)|Paclitaxel(DB01229)|Phenprocoumon(DB00946)|Probenecid(DB01032)|Propofol(DB00818)|Pyridoxine(DB00165)|Salicyclic acid(DB00936)|Saquinavir(DB01232)|Serum albumin iodonated(DB00064)|Serum albumin(DB00096)|Sodium lauryl sulfate(DB00815)|Sucralfate(DB00364)|Sulfamethizole(DB00576)|Sulindac(DB00605)|Suprofen(DB00870)|Testosterone(DB00624)|Xanthophyll(DB00137) TACTTTTATGCCCCGGAACTC 0.353000 5 529 0 0 1 0 0 CHD7 55636 broad.mit.edu 37 8 61769311 61769311 + Missense_Mutation SNP G G A TCGA-F2-A8YN-01A-11D-A377-08 TCGA-F2-A8YN-10A-01D-A37A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3481a872-1f51-4fdd-95ec-c3ad9ffc9040 eacf769d-bf42-4c1a-854a-a966923cf00b g.chr8:61769311G>A ENST00000423902.2 + 34 7951 c.7472G>A c.(7471-7473)cGc>cAc p.R2491H CHD7_ENST00000529472.1_3'UTR|CHD7_ENST00000524602.1_Intron NM_017780.3 NP_060250.2 Q9P2D1 CHD7_HUMAN chromodomain helicase DNA binding protein 7 2491 central nervous system development|chromatin modification|cognition|cranial nerve development|face development|heart morphogenesis|in utero embryonic development|inner ear morphogenesis|nose development|palate development|regulation of growth hormone secretion|regulation of transcription, DNA-dependent|retina development in camera-type eye|skeletal system development|T cell differentiation|transcription, DNA-dependent nucleus ATP binding|chromatin binding|DNA binding|helicase activity NS(1)|breast(6)|central_nervous_system(8)|cervix(2)|endometrium(16)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(16)|lung(49)|ovary(4)|pancreas(2)|prostate(4)|skin(2)|urinary_tract(3) 123 all_cancers(86;0.2)|all_lung(136;0.0402)|Lung NSC(129;0.0459)|all_epithelial(80;0.0477) BRCA - Breast invasive adenocarcinoma(89;0.143) GGCCTTTCGCGCACACCCACA 0.488000 5 603 0 0 1 0 0 ADCY5 111 broad.mit.edu 37 3 123046467 123046467 + Missense_Mutation SNP G G A TCGA-F2-A8YN-01A-11D-A377-08 TCGA-F2-A8YN-10A-01D-A37A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3481a872-1f51-4fdd-95ec-c3ad9ffc9040 eacf769d-bf42-4c1a-854a-a966923cf00b g.chr3:123046467G>A ENST00000462833.1 - 7 3157 c.1945C>T c.(1945-1947)Cgg>Tgg p.R649W ADCY5_ENST00000309879.5_Missense_Mutation_p.R299W|ADCY5_ENST00000491190.1_Missense_Mutation_p.R282W NM_183357.2 NP_899200.1 O95622 ADCY5_HUMAN adenylate cyclase 5 649 activation of phospholipase C activity|activation of protein kinase A activity|cellular response to glucagon stimulus|energy reserve metabolic process|nerve growth factor receptor signaling pathway|synaptic transmission|transmembrane transport|water transport integral to membrane|plasma membrane adenylate cyclase activity|ATP binding|metal ion binding breast(2)|endometrium(4)|kidney(3)|large_intestine(12)|lung(22)|ovary(5)|prostate(2)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(2) 60 GBM - Glioblastoma multiforme(114;0.0342) CCACAGACCCGCTTCTGGGTG 0.627000 49 62 0 0 1 0 0 NYNRIN 57523 broad.mit.edu 37 14 24886290 24886290 + Missense_Mutation SNP G G A TCGA-F2-A8YN-01A-11D-A377-08 TCGA-F2-A8YN-10A-01D-A37A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3481a872-1f51-4fdd-95ec-c3ad9ffc9040 eacf769d-bf42-4c1a-854a-a966923cf00b g.chr14:24886290G>A ENST00000382554.3 + 9 5653 c.5335G>A c.(5335-5337)Gca>Aca p.A1779T NM_025081.2 NP_079357.2 Q9P2P1 NYNRI_HUMAN NYN domain and retroviral integrase containing 1779 DNA integration integral to membrane DNA binding breast(3)|central_nervous_system(1)|endometrium(7)|kidney(6)|large_intestine(8)|lung(21)|ovary(2)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(1) 56 GATGAGCAGCGCAAACATTGA 0.617000 5 335 0 0 1 0 0 CPAMD8 27151 broad.mit.edu 37 19 17010311 17010311 + Missense_Mutation SNP C C T TCGA-F2-A8YN-01A-11D-A377-08 TCGA-F2-A8YN-10A-01D-A37A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3481a872-1f51-4fdd-95ec-c3ad9ffc9040 eacf769d-bf42-4c1a-854a-a966923cf00b g.chr19:17010311C>T ENST00000443236.1 - 37 4995 c.4964G>A c.(4963-4965)cGc>cAc p.R1655H NM_015692.2 NP_056507.2 Q8IZJ3 CPMD8_HUMAN C3 and PZP-like, alpha-2-macroglobulin domain containing 8 1608 extracellular space|plasma membrane serine-type endopeptidase inhibitor activity breast(11)|central_nervous_system(3)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(17)|lung(14)|ovary(7)|pancreas(2)|prostate(4)|skin(5) 82 GAGCACTCGGCGTCCAGCCAC 0.577000 71 195 0 0 1 0 0 PTCH1 5727 broad.mit.edu 37 9 98244279 98244279 + Missense_Mutation SNP T T C TCGA-F2-A8YN-01A-11D-A377-08 TCGA-F2-A8YN-10A-01D-A37A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3481a872-1f51-4fdd-95ec-c3ad9ffc9040 eacf769d-bf42-4c1a-854a-a966923cf00b g.chr9:98244279T>C ENST00000430669.2 - 5 1085 c.500A>G c.(499-501)gAc>gGc p.D167G PTCH1_ENST00000437951.1_Missense_Mutation_p.D167G|PTCH1_ENST00000418258.1_Missense_Mutation_p.D82G|PTCH1_ENST00000468211.2_Missense_Mutation_p.D167G|PTCH1_ENST00000375274.2_Missense_Mutation_p.D232G|PTCH1_ENST00000548379.1_5'UTR|PTCH1_ENST00000331920.6_Missense_Mutation_p.D233G|PTCH1_ENST00000429896.2_Missense_Mutation_p.D82G|PTCH1_ENST00000421141.1_Missense_Mutation_p.D82G Q13635 PTC1_HUMAN patched 1 233 embryonic limb morphogenesis|negative regulation of multicellular organism growth|protein processing|regulation of smoothened signaling pathway|smoothened signaling pathway integral to plasma membrane hedgehog receptor activity NS(8)|bone(33)|breast(10)|central_nervous_system(95)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(8)|kidney(2)|large_intestine(18)|lung(22)|meninges(1)|oesophagus(3)|ovary(6)|prostate(2)|skin(262)|upper_aerodigestive_tract(11)|urinary_tract(2)|vulva(1) 490 Medulloblastoma(1;7.87e-06)|all_neural(1;0.000555)|Acute lymphoblastic leukemia(62;0.136) CCAGAAGCAGTCCAAAGGTGT 0.433000 66 200 0 0 1 0 0 UNC79 57578 broad.mit.edu 37 14 93954015 93954015 + Missense_Mutation SNP C C T TCGA-F2-A8YN-01A-11D-A377-08 TCGA-F2-A8YN-10A-01D-A37A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3481a872-1f51-4fdd-95ec-c3ad9ffc9040 eacf769d-bf42-4c1a-854a-a966923cf00b g.chr14:93954015C>T ENST00000553484.1 + 5 780 c.626C>T c.(625-627)tCc>tTc p.S209F UNC79_ENST00000393151.2_Missense_Mutation_p.S209F|UNC79_ENST00000555664.1_Missense_Mutation_p.S209F|UNC79_ENST00000256339.4_Missense_Mutation_p.S32F Q9P2D8 UNC79_HUMAN unc-79 homolog (C. elegans) 209 integral to membrane breast(3)|cervix(2)|endometrium(10)|kidney(7)|large_intestine(18)|liver(1)|lung(64)|ovary(1)|prostate(5)|skin(3)|urinary_tract(4) 118 GCAGTGGGCTCCTCAAGGAGA 0.403000 17 383 0 0 1 0 0 SLC22A10 387775 broad.mit.edu 37 11 63057849 63057849 + Missense_Mutation SNP C C T TCGA-F2-A8YN-01A-11D-A377-08 TCGA-F2-A8YN-10A-01D-A37A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3481a872-1f51-4fdd-95ec-c3ad9ffc9040 eacf769d-bf42-4c1a-854a-a966923cf00b g.chr11:63057849C>T ENST00000332793.6 + 1 214 c.212C>T c.(211-213)gCc>gTc p.A71V SLC22A10_ENST00000526800.1_Missense_Mutation_p.A19V|SLC22A10_ENST00000535888.1_Intron|SLC22A10_ENST00000525620.1_Intron|SLC22A10_ENST00000544661.1_5'UTR NM_001039752.3 NP_001034841.3 Q63ZE4 S22AA_HUMAN solute carrier family 22, member 10 71 integral to membrane transmembrane transporter activity breast(1)|endometrium(2)|kidney(2)|large_intestine(4)|lung(11)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 28 AGTGAAGATGCCCTCTTGAGA 0.493000 5 428 0 0 1 0 0 SAMD14 201191 broad.mit.edu 37 17 48191617 48191617 + Silent SNP G G T TCGA-F2-A8YN-01A-11D-A377-08 TCGA-F2-A8YN-10A-01D-A37A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3481a872-1f51-4fdd-95ec-c3ad9ffc9040 eacf769d-bf42-4c1a-854a-a966923cf00b g.chr17:48191617G>T ENST00000330175.4 - 8 1193 c.876C>A c.(874-876)ccC>ccA p.P292P SAMD14_ENST00000503131.1_Silent_p.P320P NM_001257359.1 NP_001244288.1 Q8IZD0 SAM14_HUMAN sterile alpha motif domain containing 14 292 breast(1)|endometrium(1)|kidney(4)|large_intestine(4)|lung(3)|prostate(1)|urinary_tract(1) 15 AGGGCCCACTGGGGATCTTGG 0.597000 7 154 0.00198382 0.00200056 1 1 0 GPR137 56834 broad.mit.edu 37 11 64054047 64054047 + Silent SNP G G C TCGA-F2-A8YN-01A-11D-A377-08 TCGA-F2-A8YN-10A-01D-A37A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3481a872-1f51-4fdd-95ec-c3ad9ffc9040 eacf769d-bf42-4c1a-854a-a966923cf00b g.chr11:64054047G>C ENST00000539851.1 + 2 518 c.51G>C c.(49-51)gcG>gcC p.A17A GPR137_ENST00000411458.1_Silent_p.A75A|GPR137_ENST00000377702.4_Silent_p.A17A|GPR137_ENST00000438980.2_Silent_p.A17A|GPR137_ENST00000313074.3_Silent_p.A17A NM_001177358.1 NP_001170829.1 Q96N19 G137A_HUMAN G protein-coupled receptor 137 17 integral to membrane central_nervous_system(1)|endometrium(3)|kidney(1)|lung(4)|skin(1) 10 TGGTGCCTGCGCTGCCACCTG 0.632000 5 380 0 0 1 0 0 GPR123 84435 broad.mit.edu 37 10 134884542 134884542 + Missense_Mutation SNP G G A TCGA-F2-A8YN-01A-11D-A377-08 TCGA-F2-A8YN-10A-01D-A37A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3481a872-1f51-4fdd-95ec-c3ad9ffc9040 eacf769d-bf42-4c1a-854a-a966923cf00b g.chr10:134884542G>A ENST00000607359.1 + 1 110 c.110G>A c.(109-111)cGg>cAg p.R37Q Q86SQ6 GP123_HUMAN G protein-coupled receptor 123 0 integral to membrane|plasma membrane G-protein coupled receptor activity endometrium(2)|kidney(2)|large_intestine(1)|lung(6)|prostate(3) 14 all_cancers(35;1.8e-10)|all_epithelial(44;8.95e-09)|Lung NSC(174;0.000845)|all_lung(145;0.00144)|all_neural(114;0.0299)|Colorectal(31;0.0585)|Melanoma(40;0.123)|Glioma(114;0.203) OV - Ovarian serous cystadenocarcinoma(35;9.16e-06)|Epithelial(32;1.21e-05)|all cancers(32;1.63e-05) CGAGGGGGCCGGACACCACAG 0.657000 4 198 0 0 1 0 0 HTR2C 3358 broad.mit.edu 37 X 114141599 114141599 + Missense_Mutation SNP T T A TCGA-F2-A8YN-01A-11D-A377-08 TCGA-F2-A8YN-10A-01D-A37A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3481a872-1f51-4fdd-95ec-c3ad9ffc9040 eacf769d-bf42-4c1a-854a-a966923cf00b g.chrX:114141599T>A ENST00000276198.1 + 6 1726 c.998T>A c.(997-999)cTg>cAg p.L333Q HTR2C_ENST00000371951.1_Missense_Mutation_p.L333Q|HTR2C_ENST00000371950.3_3'UTR NM_000868.2 NP_000859.1 P28335 5HT2C_HUMAN 5-hydroxytryptamine (serotonin) receptor 2C, G protein-coupled 333 cGMP biosynthetic process|ERK1 and ERK2 cascade|feeding behavior|phosphatidylinositol biosynthetic process|release of sequestered calcium ion into cytosol|response to drug|synaptic transmission cytoplasm|integral to membrane|nucleus|plasma membrane 1-(4-iodo-2,5-dimethoxyphenyl)propan-2-amine binding|drug binding|phosphatidylinositol phospholipase C activity|protein binding|serotonin binding|serotonin receptor activity breast(1)|central_nervous_system(2)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(9)|lung(15)|ovary(4)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2) 50 Chlorprothixene(DB01239)|Clozapine(DB00363)|Dexfenfluramine(DB01191)|Fenfluramine(DB00574)|Methysergide(DB00247)|Mianserin(DB06148)|Minaprine(DB00805)|Mirtazapine(DB00370)|Olanzapine(DB00334)|Promazine(DB00420)|Propiomazine(DB00777)|Quetiapine(DB01224)|Sertindole(DB06144)|Thiethylperazine(DB00372)|Tramadol(DB00193)|Ziprasidone(DB00246) ACCAATATTCTGTCTGTTCTT 0.383000 144 264 0 0 1 0 0 MAML3 55534 broad.mit.edu 37 4 140811108 140811108 + Silent SNP C C T TCGA-F2-A8YN-01A-11D-A377-08 TCGA-F2-A8YN-10A-01D-A37A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3481a872-1f51-4fdd-95ec-c3ad9ffc9040 eacf769d-bf42-4c1a-854a-a966923cf00b g.chr4:140811108C>T ENST00000509479.2 - 2 2338 c.1482G>A c.(1480-1482)caG>caA p.Q494Q MAML3_ENST00000327122.5_Silent_p.Q338Q|MAML3_ENST00000398940.1_Silent_p.Q33Q NM_018717.4 NP_061187.2 Q96JK9 MAML3_HUMAN mastermind-like 3 (Drosophila) 494 Gln-rich. Notch signaling pathway|positive regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent nuclear speck transcription coactivator activity breast(1)|endometrium(7)|kidney(2)|large_intestine(1)|lung(9)|ovary(1)|prostate(2)|urinary_tract(2) 25 all_hematologic(180;0.162) gctgctgctgctgctgctgct 0.537000 5 109 0 0 1 0 0 PDE1C 5137 broad.mit.edu 37 7 32109952 32109952 + Nonsense_Mutation SNP G G T TCGA-F2-A8YN-01A-11D-A377-08 TCGA-F2-A8YN-10A-01D-A37A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3481a872-1f51-4fdd-95ec-c3ad9ffc9040 eacf769d-bf42-4c1a-854a-a966923cf00b g.chr7:32109952G>T ENST00000396184.3 - 2 258 c.54C>A c.(52-54)taC>taA p.Y18* PDE1C_ENST00000396182.2_Nonsense_Mutation_p.Y18*|PDE1C_ENST00000321453.7_Nonsense_Mutation_p.Y18*|PDE1C_ENST00000396193.1_Intron|PDE1C_ENST00000396191.1_Nonsense_Mutation_p.Y18* NM_005020.2 NP_005011.1 Q14123 PDE1C_HUMAN phosphodiesterase 1C, calmodulin-dependent 70kDa 18 activation of phospholipase C activity|nerve growth factor receptor signaling pathway cytosol calmodulin binding|calmodulin-dependent cyclic-nucleotide phosphodiesterase activity|metal ion binding NS(1)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(38)|prostate(4)|skin(8)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(2) 81 GBM - Glioblastoma multiforme(11;0.216) CCGGTTGCAGGTATTTCAGAG 0.502000 10 543 0.00829132 0.00832616 1 1 0 ALDH1L2 160428 broad.mit.edu 37 12 105464556 105464556 + Missense_Mutation SNP G G A TCGA-F2-A8YN-01A-11D-A377-08 TCGA-F2-A8YN-10A-01D-A37A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3481a872-1f51-4fdd-95ec-c3ad9ffc9040 eacf769d-bf42-4c1a-854a-a966923cf00b g.chr12:105464556G>A ENST00000258494.9 - 3 360 c.220C>T c.(220-222)Cct>Tct p.P74S ALDH1L2_ENST00000424857.2_Missense_Mutation_p.P74S NM_001034173.3 NP_001029345.2 Q3SY69 AL1L2_HUMAN aldehyde dehydrogenase 1 family, member L2 74 GART. 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 TTGAACACAGGGGTCCCATCT 0.413000 116 201 0 0 1 0 0 AGBL4 84871 broad.mit.edu 37 1 49511348 49511348 + Missense_Mutation SNP G G A TCGA-F2-A8YN-01A-11D-A377-08 TCGA-F2-A8YN-10A-01D-A37A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3481a872-1f51-4fdd-95ec-c3ad9ffc9040 eacf769d-bf42-4c1a-854a-a966923cf00b g.chr1:49511348G>A ENST00000371839.1 - 5 618 c.502C>T c.(502-504)Cca>Tca p.P168S AGBL4_ENST00000371836.1_Missense_Mutation_p.P168S|AGBL4_ENST00000371838.1_Missense_Mutation_p.P168S NM_032785.3 NP_116174.3 Q5VU57 CBPC6_HUMAN ATP/GTP binding protein-like 4 168 C-terminal protein deglutamylation|protein side chain deglutamylation|proteolysis cytosol metallocarboxypeptidase activity|tubulin binding|zinc ion binding NS(1)|breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(4)|ovary(1)|stomach(1) 15 Colorectal(2;0.00349)|COAD - Colon adenocarcinoma(2;0.0037) TATGTATATGGGTAGCAGTAA 0.458000 13 42 0 0 1 0 0 OR10X1 128367 broad.mit.edu 37 1 158548759 158548759 + Nonsense_Mutation SNP T T A TCGA-F2-A8YN-01A-11D-A377-08 TCGA-F2-A8YN-10A-01D-A37A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3481a872-1f51-4fdd-95ec-c3ad9ffc9040 eacf769d-bf42-4c1a-854a-a966923cf00b g.chr1:158548759T>A ENST00000368150.1 - 1 930 c.931A>T c.(931-933)Aaa>Taa p.K311* NM_001004477.1 NP_001004477.1 Q8NGY0 O10X1_HUMAN olfactory receptor, family 10, subfamily X, member 1 (gene/pseudogene) 311 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity breast(1)|cervix(1)|endometrium(2)|large_intestine(6)|lung(22)|ovary(2)|skin(2)|urinary_tract(1) 37 all_hematologic(112;0.0378) AAAGCATTTTTCATGTCCTTA 0.438000 42 554 0 0 1 0 0 OR11H12 440153 broad.mit.edu 37 14 19377838 19377838 + Missense_Mutation SNP C C A TCGA-F2-A8YN-01A-11D-A377-08 TCGA-F2-A8YN-10A-01D-A37A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3481a872-1f51-4fdd-95ec-c3ad9ffc9040 eacf769d-bf42-4c1a-854a-a966923cf00b g.chr14:19377838C>A ENST00000550708.1 + 1 317 c.245C>A c.(244-246)tCc>tAc p.S82Y NM_001013354.1|NM_001197287.1 NP_001013372.1|NP_001184216.1 B2RN74 O11HC_HUMAN olfactory receptor, family 11, subfamily H, member 12 82 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity p.S82F(1) NS(2)|endometrium(1)|kidney(1)|large_intestine(1)|lung(13)|ovary(2)|skin(1)|upper_aerodigestive_tract(1) 22 all_cancers(95;0.00108) Epithelial(56;9.96e-07)|all cancers(55;2.95e-06) GBM - Glioblastoma multiforme(265;0.00327) GGAAATTTCTCCTTTTTAGAG 0.423000 179 532 4.29369e-96 4.62249e-96 1 1 0 ZNF780A 284323 broad.mit.edu 37 19 40580666 40580666 + Silent SNP T T C TCGA-F2-A8YN-01A-11D-A377-08 TCGA-F2-A8YN-10A-01D-A37A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3481a872-1f51-4fdd-95ec-c3ad9ffc9040 eacf769d-bf42-4c1a-854a-a966923cf00b g.chr19:40580666T>C ENST00000450241.2 - 6 1892 c.1581A>G c.(1579-1581)gaA>gaG p.E527E ZNF780A_ENST00000595687.2_Silent_p.E561E|ZNF780A_ENST00000414720.2_Intron|ZNF780A_ENST00000455521.1_Silent_p.E562E|AC005614.5_ENST00000595508.1_RNA|ZNF780A_ENST00000594395.1_Silent_p.E562E|ZNF780A_ENST00000340963.5_Silent_p.E561E O75290 Z780A_HUMAN zinc finger protein 780A 561 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding breast(2)|endometrium(1)|kidney(1)|large_intestine(7)|lung(16)|upper_aerodigestive_tract(3)|urinary_tract(1) 31 all_cancers(60;9.55e-06)|all_lung(34;1.17e-07)|Lung NSC(34;1.41e-07)|Ovarian(47;0.0925) CTTTCCCACATTCCTTACATT 0.388000 6 794 0 0 1 0 0 CFL2 1073 broad.mit.edu 37 14 35182567 35182567 + Silent SNP G G A TCGA-F2-A8YN-01A-11D-A377-08 TCGA-F2-A8YN-10A-01D-A37A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3481a872-1f51-4fdd-95ec-c3ad9ffc9040 eacf769d-bf42-4c1a-854a-a966923cf00b g.chr14:35182567G>A ENST00000341223.3 - 2 355 c.204C>T c.(202-204)taC>taT p.Y68Y CFL2_ENST00000556161.1_Silent_p.Y51Y|CFL2_ENST00000555765.1_Silent_p.Y51Y|CFL2_ENST00000298159.6_Silent_p.Y68Y NM_001243645.1|NM_021914.7 NP_001230574.1|NP_068733.1 Q9Y281 COF2_HUMAN cofilin 2 (muscle) 68 ADF-H. cytoplasm|cytoskeleton|nuclear matrix actin binding breast(3)|endometrium(2)|lung(3) 8 Breast(36;0.0361)|Hepatocellular(127;0.158) LUAD - Lung adenocarcinoma(48;6.07e-06)|Lung(238;2.23e-05)|Epithelial(34;0.0387)|all cancers(34;0.0814) GBM - Glioblastoma multiforme(112;0.0424) CAAAAGATGTGTAGGGGTCCT 0.398000 8 621 0 0 1 0 0 GRIK3 2899 broad.mit.edu 37 1 37346245 37346245 + Silent SNP G G A TCGA-F2-A8YN-01A-11D-A377-08 TCGA-F2-A8YN-10A-01D-A37A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3481a872-1f51-4fdd-95ec-c3ad9ffc9040 eacf769d-bf42-4c1a-854a-a966923cf00b g.chr1:37346245G>A ENST00000373091.3 - 3 556 c.540C>T c.(538-540)gaC>gaT p.D180D GRIK3_ENST00000373093.4_Silent_p.D180D NM_000831.3 NP_000822.2 Q13003 GRIK3_HUMAN glutamate receptor, ionotropic, kainate 3 180 negative regulation of synaptic transmission, glutamatergic|regulation of membrane potential|synaptic transmission cell junction|dendrite cytoplasm|integral to plasma membrane|perikaryon|postsynaptic membrane|terminal button adenylate cyclase inhibiting metabotropic glutamate receptor activity|extracellular-glutamate-gated ion channel activity|G-protein-coupled receptor binding|kainate selective glutamate receptor activity p.D180D(2) breast(4)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(27)|lung(35)|ovary(5)|prostate(3)|skin(5)|stomach(1)|urinary_tract(1) 89 Myeloproliferative disorder(586;0.0258)|all_neural(195;0.169) L-Glutamic Acid(DB00142) CTGTACTGTCGTCATAGACCA 0.612000 31 1105 0 0 1 0 0 MUC5B 727897 broad.mit.edu 37 11 1264911 1264911 + Silent SNP T T C TCGA-F2-A8YN-01A-11D-A377-08 TCGA-F2-A8YN-10A-01D-A37A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3481a872-1f51-4fdd-95ec-c3ad9ffc9040 eacf769d-bf42-4c1a-854a-a966923cf00b g.chr11:1264911T>C ENST00000447027.1 + 31 6868 c.6810T>C c.(6808-6810)tcT>tcC p.S2270S RP11-532E4.2_ENST00000532061.2_RNA|MUC5B_ENST00000529681.1_Silent_p.S2267S Q9HC84 MUC5B_HUMAN mucin 5B, oligomeric mucus/gel-forming 2267 7 X Cys-rich subdomain repeats.|Thr-rich. cell adhesion extracellular region extracellular matrix structural constituent|protein binding p.S2267S(1)|p.S2270S(1) 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) CACCCCCTTCTCCAGGGACGA 0.677000 9 577 0 0 1 0 0 FOXP2 93986 broad.mit.edu 37 7 114269964 114269964 + Silent SNP G G A TCGA-F2-A8YN-01A-11D-A377-08 TCGA-F2-A8YN-10A-01D-A37A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3481a872-1f51-4fdd-95ec-c3ad9ffc9040 eacf769d-bf42-4c1a-854a-a966923cf00b g.chr7:114269964G>A ENST00000393500.3 + 11 1096 c.276G>A c.(274-276)caG>caA p.Q92Q FOXP2_ENST00000403559.4_Silent_p.Q184Q|FOXP2_ENST00000393491.3_Silent_p.Q75Q|FOXP2_ENST00000408937.3_Silent_p.Q192Q|FOXP2_ENST00000390668.3_Silent_p.Q191Q|FOXP2_ENST00000378237.3_Silent_p.Q167Q|FOXP2_ENST00000393489.3_Silent_p.Q75Q|AC020606.1_ENST00000580664.1_RNA|FOXP2_ENST00000393494.2_Silent_p.Q167Q|FOXP2_ENST00000360232.4_Silent_p.Q167Q|FOXP2_ENST00000350908.4_Silent_p.Q167Q|FOXP2_ENST00000393498.2_Silent_p.Q147Q O15409 FOXP2_HUMAN forkhead box P2 167 Gln-rich. camera-type eye development|caudate nucleus development|cerebellum development|cerebral cortex development|embryo development|growth|lung alveolus development|negative regulation of transcription, DNA-dependent|pattern specification process|positive regulation of epithelial cell proliferation involved in lung morphogenesis|positive regulation of mesenchymal cell proliferation|post-embryonic development|putamen development|regulation of sequence-specific DNA binding transcription factor activity|righting reflex|skeletal muscle tissue development|smooth muscle tissue development|vocal learning cytoplasm|transcription factor complex chromatin binding|DNA bending activity|double-stranded DNA binding|promoter binding|protein heterodimerization activity|protein homodimerization activity|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|specific RNA polymerase II transcription factor activity|specific transcriptional repressor activity|transcription activator activity|transcription factor binding|zinc ion binding breast(3)|endometrium(7)|kidney(4)|large_intestine(7)|lung(22)|ovary(4)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2) 52 agcaacaacagcagcagcaac 0.493000 6 225 0 0 1 0 0 HCLS1 3059 broad.mit.edu 37 3 121354642 121354642 + Missense_Mutation SNP C C T TCGA-F2-A8YN-01A-11D-A377-08 TCGA-F2-A8YN-10A-01D-A37A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3481a872-1f51-4fdd-95ec-c3ad9ffc9040 eacf769d-bf42-4c1a-854a-a966923cf00b g.chr3:121354642C>T ENST00000314583.3 - 9 722 c.631G>A c.(631-633)Ggc>Agc p.G211S HCLS1_ENST00000473883.1_5'UTR|HCLS1_ENST00000428394.2_Missense_Mutation_p.G174S NM_005335.4 NP_005326.2 P14317 HCLS1_HUMAN hematopoietic cell-specific Lyn substrate 1 211 erythrocyte differentiation|intracellular signal transduction|positive regulation of cell proliferation|positive regulation of tyrosine phosphorylation of STAT protein|response to hormone stimulus mitochondrion|nucleus|plasma membrane DNA binding|sequence-specific DNA binding transcription factor activity breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(13)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 35 GBM - Glioblastoma multiforme(114;0.0912) TCATTGAAGCCGACAGCGCTC 0.557000 23 303 0 0 1 0 0 L3MBTL4 91133 broad.mit.edu 37 18 5969486 5969486 + Missense_Mutation SNP C C T TCGA-F2-A8YN-01A-11D-A377-08 TCGA-F2-A8YN-10A-01D-A37A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3481a872-1f51-4fdd-95ec-c3ad9ffc9040 eacf769d-bf42-4c1a-854a-a966923cf00b g.chr18:5969486C>T ENST00000284898.6 - 18 1747 c.1547G>A c.(1546-1548)cGg>cAg p.R516Q L3MBTL4_ENST00000400105.2_Missense_Mutation_p.R516Q|L3MBTL4_ENST00000317931.7_Missense_Mutation_p.R507Q|L3MBTL4_ENST00000535782.1_Missense_Mutation_p.R320Q NM_173464.3 NP_775735.2 Q8NA19 LMBL4_HUMAN l(3)mbt-like 4 (Drosophila) 516 chromatin modification nucleus sequence-specific DNA binding transcription factor activity|zinc ion binding breast(2)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|lung(17)|pancreas(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1) 39 Colorectal(10;0.0249) GGGAAGGTCCCGAAAAGGGTG 0.607000 18 312 0 0 1 0 0 NFIC 4782 broad.mit.edu 37 19 3449068 3449068 + Missense_Mutation SNP T T C TCGA-F2-A8YN-01A-11D-A377-08 TCGA-F2-A8YN-10A-01D-A37A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3481a872-1f51-4fdd-95ec-c3ad9ffc9040 eacf769d-bf42-4c1a-854a-a966923cf00b g.chr19:3449068T>C ENST00000589123.1 + 7 1108 c.988T>C c.(988-990)Tcc>Ccc p.S330P NFIC_ENST00000341919.3_Missense_Mutation_p.S339P|NFIC_ENST00000346156.5_Missense_Mutation_p.S306P|NFIC_ENST00000395111.3_Missense_Mutation_p.S330P|NFIC_ENST00000586919.1_Missense_Mutation_p.S306P|NFIC_ENST00000590282.1_Missense_Mutation_p.S339P|NFIC_ENST00000443272.2_Missense_Mutation_p.S339P NM_001245005.1|NM_205843.2 NP_001231934.1|NP_995315.1 P08651 NFIC_HUMAN nuclear factor I/C (CCAAT-binding transcription factor) 339 DNA replication|negative regulation of transcription from RNA polymerase II promoter|positive regulation of transcription from RNA polymerase II promoter|transcription from RNA polymerase II promoter nucleus DNA binding|sequence-specific DNA binding transcription factor activity NS(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(10)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1) 21 Hepatocellular(1079;0.137) UCEC - Uterine corpus endometrioid carcinoma (162;7.8e-05)|Epithelial(107;2.94e-108)|BRCA - Breast invasive adenocarcinoma(158;0.00154)|STAD - Stomach adenocarcinoma(1328;0.191) CAACAGCCCGTCCCCCCAGGA 0.667000 11 139 0 0 1 0 0 CD86 942 broad.mit.edu 37 3 121822548 121822548 + Missense_Mutation SNP G G A TCGA-F2-A8YN-01A-11D-A377-08 TCGA-F2-A8YN-10A-01D-A37A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3481a872-1f51-4fdd-95ec-c3ad9ffc9040 eacf769d-bf42-4c1a-854a-a966923cf00b g.chr3:121822548G>A ENST00000330540.2 + 3 370 c.254G>A c.(253-255)cGc>cAc p.R85H CD86_ENST00000264468.5_Intron|CD86_ENST00000393627.2_Missense_Mutation_p.R79H|CD86_ENST00000469710.1_Missense_Mutation_p.R3H|CD86_ENST00000493101.1_Intron NM_175862.4 NP_787058.4 P42081 CD86_HUMAN CD86 molecule 85 Ig-like V-type. interspecies interaction between organisms|positive regulation of cell proliferation|positive regulation of interleukin-2 biosynthetic process|positive regulation of interleukin-4 biosynthetic process|positive regulation of lymphotoxin A biosynthetic process|positive regulation of T-helper 2 cell differentiation|positive regulation of transcription, DNA-dependent|T cell costimulation coreceptor activity|protein binding breast(2)|endometrium(1)|kidney(1)|lung(11)|ovary(2)|pancreas(1)|prostate(1)|skin(1)|urinary_tract(3) 23 GBM - Glioblastoma multiforme(114;0.156) Abatacept(DB01281) TATATGGGCCGCACAAGTTTT 0.423000 6 741 0 0 1 0 0 IGHG3 0 broad.mit.edu 37 14 106237582 106237582 + RNA SNP C C T rs2983776 TCGA-F2-A8YN-01A-11D-A377-08 TCGA-F2-A8YN-10A-01D-A37A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3481a872-1f51-4fdd-95ec-c3ad9ffc9040 eacf769d-bf42-4c1a-854a-a966923cf00b g.chr14:106237582C>T ENST00000390551.2 - 0 160 GTAGGACAGCCGGGAAGGTGT 0.637000 5 252 0 0 1 0 0 SRPRB 58477 broad.mit.edu 37 3 133535748 133535748 + Missense_Mutation SNP T T G TCGA-F2-A8YN-01A-11D-A377-08 TCGA-F2-A8YN-10A-01D-A37A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3481a872-1f51-4fdd-95ec-c3ad9ffc9040 eacf769d-bf42-4c1a-854a-a966923cf00b g.chr3:133535748T>G ENST00000466490.2 + 7 859 c.574T>G c.(574-576)Tta>Gta p.L192V NM_021203.3 NP_067026.3 Q9Y5M8 SRPRB_HUMAN signal recognition particle receptor, B subunit 192 endoplasmic reticulum membrane|integral to membrane GTP binding|protein binding|receptor activity breast(1)|large_intestine(3)|lung(4)|ovary(1)|prostate(1)|urinary_tract(2) 12 ATCAGCAAAGTTAATTCAACA 0.348000 7 771 0 0 1 0 0 GBA 2629 broad.mit.edu 37 1 155210490 155210490 + Missense_Mutation SNP T T C rs1141804 TCGA-F2-A8YN-01A-11D-A377-08 TCGA-F2-A8YN-10A-01D-A37A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3481a872-1f51-4fdd-95ec-c3ad9ffc9040 eacf769d-bf42-4c1a-854a-a966923cf00b g.chr1:155210490T>C ENST00000327247.5 - 3 278 c.46A>G c.(46-48)Agt>Ggt p.S16G GBA_ENST00000368373.3_Missense_Mutation_p.S16G|GBA_ENST00000536770.1_Missense_Mutation_p.S16G|GBA_ENST00000428024.2_Intron|GBA_ENST00000427500.2_Missense_Mutation_p.S16G|GBA_ENST00000493842.1_5'UTR NM_001005741.2|NM_001005742.2 NP_001005741.1|NP_001005742.1 P04062 GLCM_HUMAN glucosidase, beta, acid 16 carbohydrate metabolic process|cell death|cellular response to tumor necrosis factor|ceramide biosynthetic process|glucosylceramide catabolic process|lysosome organization|negative regulation of interleukin-6 production|negative regulation of MAP kinase activity|positive regulation of protein dephosphorylation|sphingosine biosynthetic process|termination of signal transduction lysosomal lumen|lysosomal membrane cation binding|glucosylceramidase activity|receptor binding breast(1)|central_nervous_system(1)|endometrium(1)|kidney(3)|large_intestine(3)|lung(9)|ovary(3)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(2) 26 all_lung(78;2.32e-23)|Hepatocellular(266;0.0877)|all_hematologic(923;0.088) Epithelial(20;3.72e-10)|all cancers(21;1.19e-09)|BRCA - Breast invasive adenocarcinoma(34;0.000752)|LUSC - Lung squamous cell carcinoma(543;0.193) Alglucerase(DB00088)|Imiglucerase(DB00053) CTTACCCTACTCAAAGGCTTG 0.547000 Gaucher disease type I 7 610 0 0 1 0 0 GEMIN2 8487 broad.mit.edu 37 14 39597482 39597482 + Splice_Site SNP A A T TCGA-F2-A8YN-01A-11D-A377-08 TCGA-F2-A8YN-10A-01D-A37A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3481a872-1f51-4fdd-95ec-c3ad9ffc9040 eacf769d-bf42-4c1a-854a-a966923cf00b g.chr14:39597482A>T ENST00000308317.6 + 7 647 c.e7-1 GEMIN2_ENST00000396249.2_Splice_Site|GEMIN2_ENST00000250379.8_Splice_Site NM_003616.2 NP_003607.1 O14893 GEMI2_HUMAN gem (nuclear organelle) associated protein 2 ncRNA metabolic process|spliceosomal snRNP assembly|spliceosome assembly Cajal body|cytosol|spliceosomal complex protein binding TTTTTTTTTTAGGCAACAGTA 0.308000 5 358 0 0 1 0 0 ZCCHC9 84240 broad.mit.edu 37 5 80608439 80608439 + Silent SNP G G A TCGA-F2-A8YN-01A-11D-A377-08 TCGA-F2-A8YN-10A-01D-A37A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3481a872-1f51-4fdd-95ec-c3ad9ffc9040 eacf769d-bf42-4c1a-854a-a966923cf00b g.chr5:80608439G>A ENST00000254037.2 + 5 3929 c.774G>A c.(772-774)ccG>ccA p.P258P ZCCHC9_ENST00000506458.1_3'UTR|ZCCHC9_ENST00000407610.3_Silent_p.P258P|ZCCHC9_ENST00000438268.2_Silent_p.P258P|ZCCHC9_ENST00000380199.5_Silent_p.P258P Q8N567 ZCHC9_HUMAN zinc finger, CCHC domain containing 9 258 nucleic acid binding|zinc ion binding p.P258P(2) breast(1)|endometrium(1)|kidney(2)|large_intestine(5)|lung(3)|ovary(1) 13 Lung NSC(167;0.0427)|all_lung(232;0.0464)|Ovarian(174;0.135) OV - Ovarian serous cystadenocarcinoma(54;8.18e-45)|Epithelial(54;2.72e-39)|all cancers(79;7.33e-34) TACCTAAACCGCAAAAACCCA 0.388000 5 455 0 0 1 0 0 ZFP36L1 677 broad.mit.edu 37 14 69256429 69256429 + Missense_Mutation SNP G G A TCGA-F2-A8YN-01A-11D-A377-08 TCGA-F2-A8YN-10A-01D-A37A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3481a872-1f51-4fdd-95ec-c3ad9ffc9040 eacf769d-bf42-4c1a-854a-a966923cf00b g.chr14:69256429G>A ENST00000439696.2 - 2 1139 c.838C>T c.(838-840)Cgg>Tgg p.R280W ZFP36L1_ENST00000555997.1_3'UTR|ZFP36L1_ENST00000336440.3_Missense_Mutation_p.R280W NM_001244701.1|NM_004926.3 NP_001231630.1|NP_004917.2 Q07352 TISB_HUMAN ZFP36 ring finger protein-like 1 280 regulation of mRNA stability cytosol|nucleus DNA binding|mRNA binding|protein binding|sequence-specific DNA binding transcription factor activity|zinc ion binding breast(4)|kidney(1)|large_intestine(1)|liver(2)|lung(9)|ovary(1)|prostate(2)|urinary_tract(1) 21 all cancers(60;0.00203)|BRCA - Breast invasive adenocarcinoma(234;0.00205)|OV - Ovarian serous cystadenocarcinoma(108;0.0401) GACATGGGCCGGAAGAGGAAG 0.632000 OREG0022753 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 6 571 0 0 1 0 0 TCF20 6942 broad.mit.edu 37 22 42609709 42609709 + Missense_Mutation SNP G G A TCGA-F2-A8YN-01A-11D-A377-08 TCGA-F2-A8YN-10A-01D-A37A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3481a872-1f51-4fdd-95ec-c3ad9ffc9040 eacf769d-bf42-4c1a-854a-a966923cf00b g.chr22:42609709G>A ENST00000359486.3 - 1 1739 c.1603C>T c.(1603-1605)Cgg>Tgg p.R535W TCF20_ENST00000335626.4_Missense_Mutation_p.R535W NM_005650.1 NP_005641.1 Q9UGU0 TCF20_HUMAN transcription factor 20 (AR1) 535 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|transcription coactivator activity|zinc ion binding breast(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(7)|large_intestine(13)|lung(22)|ovary(5)|prostate(1)|skin(2)|soft_tissue(1)|upper_aerodigestive_tract(2)|urinary_tract(5) 66 CTTAGTTGCCGCACTCTCTCG 0.557000 6 1070 0 0 1 0 0 ETV3L 440695 broad.mit.edu 37 1 157068573 157068573 + Silent SNP C C T TCGA-F2-A8YN-01A-11D-A377-08 TCGA-F2-A8YN-10A-01D-A37A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3481a872-1f51-4fdd-95ec-c3ad9ffc9040 eacf769d-bf42-4c1a-854a-a966923cf00b g.chr1:157068573C>T ENST00000454449.2 - 3 695 c.411G>A c.(409-411)ccG>ccA p.P137P NM_001004341.2 NP_001004341.1 Q6ZN32 ETV3L_HUMAN ets variant 3-like 137 nucleus sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity breast(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(9)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(2) 24 Hepatocellular(266;0.158) Prostate(1639;0.184) GGGGGGATGGCGGCGCCCGCA 0.592000 6 367 0 0 1 0 0 GPAM 57678 broad.mit.edu 37 10 113932067 113932067 + Missense_Mutation SNP G G A TCGA-F2-A8YN-01A-11D-A377-08 TCGA-F2-A8YN-10A-01D-A37A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3481a872-1f51-4fdd-95ec-c3ad9ffc9040 eacf769d-bf42-4c1a-854a-a966923cf00b g.chr10:113932067G>A ENST00000348367.4 - 9 864 c.667C>T c.(667-669)Ccg>Tcg p.P223S GPAM_ENST00000369425.1_Missense_Mutation_p.P223S|GPAM_ENST00000423155.1_Missense_Mutation_p.P223S Q9HCL2 GPAT1_HUMAN glycerol-3-phosphate acyltransferase, mitochondrial 223 phospholipid biosynthetic process|triglyceride biosynthetic process integral to membrane|mitochondrial outer membrane glycerol-3-phosphate O-acyltransferase activity breast(2)|central_nervous_system(2)|endometrium(8)|kidney(2)|large_intestine(5)|lung(8)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1) 31 Epithelial(162;0.0306)|all cancers(201;0.123) AACAGAAGCGGCAAATTCGTC 0.383000 5 264 0 0 1 0 0 CD97 976 broad.mit.edu 37 19 14499539 14499539 + Silent SNP C C T TCGA-F2-A8YN-01A-11D-A377-08 TCGA-F2-A8YN-10A-01D-A37A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3481a872-1f51-4fdd-95ec-c3ad9ffc9040 eacf769d-bf42-4c1a-854a-a966923cf00b g.chr19:14499539C>T ENST00000242786.5 + 3 179 c.99C>T c.(97-99)aaC>aaT p.N33N CD97_ENST00000358600.3_Silent_p.N33N|CD97_ENST00000587728.1_3'UTR|CD97_ENST00000357355.3_Silent_p.N33N NM_078481.3 NP_510966.1 P48960 CD97_HUMAN CD97 molecule 33 EGF-like 1. cell adhesion|cell-cell signaling|cellular component movement|immune response|inflammatory response|neuropeptide signaling pathway extracellular space|integral to plasma membrane calcium ion binding|G-protein coupled receptor activity|protein binding breast(2)|endometrium(3)|kidney(1)|large_intestine(6)|liver(1)|lung(9)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 30 GCCCTCAGAACTCCTCGTGTG 0.587000 9 691 0 0 1 0 0 SNCAIP 9627 broad.mit.edu 37 5 121776408 121776408 + Missense_Mutation SNP G G A TCGA-F2-A8YN-01A-11D-A377-08 TCGA-F2-A8YN-10A-01D-A37A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3481a872-1f51-4fdd-95ec-c3ad9ffc9040 eacf769d-bf42-4c1a-854a-a966923cf00b g.chr5:121776408G>A ENST00000261367.7 + 9 2950 c.1522G>A c.(1522-1524)Gtt>Att p.V508I SNCAIP_ENST00000379536.2_Missense_Mutation_p.V401I|CTC-210G5.1_ENST00000510972.1_RNA|CTC-210G5.1_ENST00000509993.1_RNA|SNCAIP_ENST00000414317.2_Missense_Mutation_p.V63I|SNCAIP_ENST00000542191.1_Missense_Mutation_p.V19I|SNCAIP_ENST00000379533.2_Missense_Mutation_p.V508I|CTC-210G5.1_ENST00000503529.1_RNA|SNCAIP_ENST00000261368.8_Missense_Mutation_p.V461I|CTC-210G5.1_ENST00000506053.1_RNA|SNCAIP_ENST00000503116.2_Missense_Mutation_p.V508I|SNCAIP_ENST00000379538.3_Missense_Mutation_p.V95I|SNCAIP_ENST00000504884.2_3'UTR Q9Y6H5 SNCAP_HUMAN synuclein, alpha interacting protein 461 cell death|dopamine metabolic process|regulation of inclusion body assembly|regulation of neurotransmitter secretion cytoplasm|neuronal cell body|nucleolus|presynaptic membrane ubiquitin protein ligase binding NS(3)|breast(2)|endometrium(4)|kidney(1)|large_intestine(5)|lung(9)|ovary(2)|pancreas(1)|prostate(4)|skin(7)|urinary_tract(1) 39 all_cancers(142;0.00787)|Prostate(80;0.0327) KIRC - Kidney renal clear cell carcinoma(527;0.206) OV - Ovarian serous cystadenocarcinoma(64;0.000625)|Epithelial(69;0.00216)|all cancers(49;0.0232) CAACAGTGCCGTTCACGTAGC 0.428000 5 490 0 0 1 0 0 OR5L1 219437 broad.mit.edu 37 11 55579771 55579771 + Missense_Mutation SNP T T A TCGA-F2-A8YN-01A-11D-A377-08 TCGA-F2-A8YN-10A-01D-A37A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3481a872-1f51-4fdd-95ec-c3ad9ffc9040 eacf769d-bf42-4c1a-854a-a966923cf00b g.chr11:55579771T>A ENST00000333973.2 + 1 918 c.829T>A c.(829-831)Ttc>Atc p.F277I NM_001004738.1 NP_001004738.1 Q8NGL2 OR5L1_HUMAN olfactory receptor, family 5, subfamily L, member 1 277 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity NS(1)|breast(2)|central_nervous_system(2)|endometrium(2)|kidney(3)|large_intestine(4)|liver(4)|lung(36)|ovary(2)|pancreas(1)|prostate(5)|skin(9)|stomach(4)|upper_aerodigestive_tract(3) 78 all_epithelial(135;0.208) GGCCACCGTGTTCTACACAGT 0.458000 4 308 0 0 1 0 0 CPED1 79974 broad.mit.edu 37 7 120768504 120768504 + Silent SNP C C T TCGA-F2-A8YN-01A-11D-A377-08 TCGA-F2-A8YN-10A-01D-A37A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3481a872-1f51-4fdd-95ec-c3ad9ffc9040 eacf769d-bf42-4c1a-854a-a966923cf00b g.chr7:120768504C>T ENST00000310396.5 + 11 1838 c.1371C>T c.(1369-1371)ttC>ttT p.F457F CPED1_ENST00000423795.1_Silent_p.F237F|CPED1_ENST00000450913.2_Silent_p.F457F NM_024913.4 NP_079189.4 cadherin-like and PC-esterase domain containing 1 TTATGACTTTCATAAAGGAAC 0.368000 87 236 0 0 1 0 0 MUC20 200958 broad.mit.edu 37 3 195452870 195452870 + Missense_Mutation SNP G G A TCGA-F2-A8YN-01A-11D-A377-08 TCGA-F2-A8YN-10A-01D-A37A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3481a872-1f51-4fdd-95ec-c3ad9ffc9040 eacf769d-bf42-4c1a-854a-a966923cf00b g.chr3:195452870G>A ENST00000320736.6 + 3 1009 c.883G>A c.(883-885)Gaa>Aaa p.E295K MUC20_ENST00000447234.2_Missense_Mutation_p.E466K|MUC20_ENST00000445522.2_Missense_Mutation_p.E431K|MUC20_ENST00000436408.1_Missense_Mutation_p.E466K NM_001098516.1|NM_152673.2 NP_001091986.1|NP_689886.2 Q8N307 MUC20_HUMAN mucin 20, cell surface associated 466 12 X 20 AA approximate tandem repeats of S-S-E-S-S-A-S-S-D-S-P-H-P-V-I-T-P-S-R-A.|Ser-rich. Missing. protein homooligomerization apical plasma membrane|basal plasma membrane|extracellular region|microvillus membrane NS(1)|breast(1)|endometrium(3)|kidney(3)|large_intestine(3)|lung(4)|skin(4)|stomach(3)|upper_aerodigestive_tract(1) 23 all_cancers(143;1.8e-08)|Ovarian(172;0.0634) Lung NSC(153;0.191) Epithelial(36;1e-21)|all cancers(36;9.02e-20)|OV - Ovarian serous cystadenocarcinoma(49;1.6e-18)|Lung(62;0.000104)|LUSC - Lung squamous cell carcinoma(58;0.000128) GBM - Glioblastoma multiforme(46;1.66e-05) TGACTCCACTGAAGCAAAACC 0.617000 5 186 0 0 1 0 0 SUSD1 64420 broad.mit.edu 37 9 114904607 114904607 + Silent SNP A A G TCGA-F2-A8YN-01A-11D-A377-08 TCGA-F2-A8YN-10A-01D-A37A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3481a872-1f51-4fdd-95ec-c3ad9ffc9040 eacf769d-bf42-4c1a-854a-a966923cf00b g.chr9:114904607A>G ENST00000374270.3 - 5 871 c.699T>C c.(697-699)caT>caC p.H233H SUSD1_ENST00000374263.3_Silent_p.H233H|SUSD1_ENST00000374264.2_Silent_p.H233H|SUSD1_ENST00000482851.1_5'UTR NM_022486.3 NP_071931.2 Q6UWL2 SUSD1_HUMAN sushi domain containing 1 233 Sushi 1. integral to membrane calcium ion binding p.H233H(1) SUSD1/ROD1(2) central_nervous_system(1)|endometrium(4)|large_intestine(8)|lung(11)|prostate(2)|skin(1)|upper_aerodigestive_tract(1) 28 CACCTTGGCAATGTAATTTTG 0.408000 191 503 0 0 1 0 0 DENND5A 23258 broad.mit.edu 37 11 9187392 9187392 + Silent SNP G G A TCGA-F2-A8YN-01A-11D-A377-08 TCGA-F2-A8YN-10A-01D-A37A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3481a872-1f51-4fdd-95ec-c3ad9ffc9040 eacf769d-bf42-4c1a-854a-a966923cf00b g.chr11:9187392G>A ENST00000328194.3 - 11 2594 c.2274C>T c.(2272-2274)tgC>tgT p.C758C DENND5A_ENST00000530044.1_Silent_p.C758C|DENND5A_ENST00000527700.1_Silent_p.C101C NM_001243254.1|NM_015213.3 NP_001230183.1|NP_056028.2 Q6IQ26 DEN5A_HUMAN DENN/MADD domain containing 5A 758 breast(1)|endometrium(7)|kidney(2)|large_intestine(8)|liver(1)|lung(16)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 39 CCTTATTGCGGCATTCCTTCA 0.498000 5 483 0 0 1 0 0 FKBP6 8468 broad.mit.edu 37 7 72754662 72754662 + Missense_Mutation SNP G G A TCGA-F2-A8YN-01A-11D-A377-08 TCGA-F2-A8YN-10A-01D-A37A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3481a872-1f51-4fdd-95ec-c3ad9ffc9040 eacf769d-bf42-4c1a-854a-a966923cf00b g.chr7:72754662G>A ENST00000252037.4 + 6 680 c.611G>A c.(610-612)cGa>cAa p.R204Q FKBP6_ENST00000413573.2_Missense_Mutation_p.R174Q|FKBP6_ENST00000431982.2_Missense_Mutation_p.R199Q NM_003602.3 NP_003593.3 O75344 FKBP6_HUMAN FK506 binding protein 6, 36kDa 204 protein folding membrane FK506 binding|peptidyl-prolyl cis-trans isomerase activity central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(10) 16 Lung NSC(55;0.0908)|all_lung(88;0.198) CTGCGCCGGCGATCAGCACCC 0.537000 9 291 0 0 1 0 0 XIRP2 129446 broad.mit.edu 37 2 168100148 168100148 + Missense_Mutation SNP G G A TCGA-F2-A8YN-01A-11D-A377-08 TCGA-F2-A8YN-10A-01D-A37A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3481a872-1f51-4fdd-95ec-c3ad9ffc9040 eacf769d-bf42-4c1a-854a-a966923cf00b g.chr2:168100148G>A ENST00000409195.1 + 9 2335 c.2246G>A c.(2245-2247)gGc>gAc p.G749D XIRP2_ENST00000420519.1_Intron|XIRP2_ENST00000409273.1_Missense_Mutation_p.G527D|XIRP2_ENST00000295237.9_Missense_Mutation_p.G749D|XIRP2_ENST00000409043.1_Intron|XIRP2_ENST00000409756.2_Intron|XIRP2_ENST00000409728.1_Intron|XIRP2_ENST00000409605.1_Intron NM_152381.5 NP_689594.4 A4UGR9 XIRP2_HUMAN xin actin-binding repeat containing 2 574 actin cytoskeleton organization cell junction actin binding NS(3)|biliary_tract(2)|breast(5)|cervix(3)|endometrium(16)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(51)|lung(160)|ovary(7)|pancreas(3)|prostate(11)|skin(14)|stomach(5)|upper_aerodigestive_tract(8)|urinary_tract(7) 315 GATGGTTCGGGCCAAATGCTG 0.383000 5 339 0 0 1 0 0 STARD3NL 0 broad.mit.edu 37 7 38256892 38256892 + Missense_Mutation SNP C C G TCGA-F2-A8YN-01A-11D-A377-08 TCGA-F2-A8YN-10A-01D-A37A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3481a872-1f51-4fdd-95ec-c3ad9ffc9040 eacf769d-bf42-4c1a-854a-a966923cf00b g.chr7:38256892C>G ENST00000009041.7 + 6 796 c.539C>G c.(538-540)gCa>gGa p.A180G STARD3NL_ENST00000544203.1_Missense_Mutation_p.A173G|STARD3NL_ENST00000396013.1_Missense_Mutation_p.A180G|STARD3NL_ENST00000434197.1_Missense_Mutation_p.A162G NM_032016.3 NP_114405.1 O95772 MENTO_HUMAN STARD3 N-terminal like 180 MENTAL. integral to membrane|late endosome membrane endometrium(2)|large_intestine(2)|lung(4)|ovary(1)|skin(1) 10 CCTCAAGAAGCAGAAGAAGAA 0.483000 7 444 0 0 1 0 0 TUBB8P7 0 broad.mit.edu 37 16 90162513 90162513 + RNA SNP T T C TCGA-F2-A8YN-01A-11D-A377-08 TCGA-F2-A8YN-10A-01D-A37A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3481a872-1f51-4fdd-95ec-c3ad9ffc9040 eacf769d-bf42-4c1a-854a-a966923cf00b g.chr16:90162513T>C ENST00000567960.1 + 0 1249 TUBB8P7_ENST00000564451.1_RNA p.N415N(2) GCAACATGAATGACCTGGTGT 0.537000 7 480 0 0 1 0 0 STX11 8676 broad.mit.edu 37 6 144507954 144507954 + Missense_Mutation SNP C C T TCGA-F2-A8YN-01A-11D-A377-08 TCGA-F2-A8YN-10A-01D-A37A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3481a872-1f51-4fdd-95ec-c3ad9ffc9040 eacf769d-bf42-4c1a-854a-a966923cf00b g.chr6:144507954C>T ENST00000367568.4 + 2 373 c.190C>T c.(190-192)Cgg>Tgg p.R64W NM_003764.3 NP_003755.2 O75558 STX11_HUMAN syntaxin 11 64 cellular membrane fusion|intracellular protein transport|vesicle-mediated transport Golgi apparatus|membrane SNAP receptor activity breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(4)|lung(3)|ovary(1)|skin(1) 12 OV - Ovarian serous cystadenocarcinoma(155;2.17e-06)|GBM - Glioblastoma multiforme(68;0.0492) CGACGTGAAGCGGCTGGGAAA 0.622000 Familial Hemophagocytic Lymphohistiocytosis 11 135 0 0 1 0 0 HERC1 8925 broad.mit.edu 37 15 64025227 64025227 + Missense_Mutation SNP C C T TCGA-F2-A8YN-01A-11D-A377-08 TCGA-F2-A8YN-10A-01D-A37A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3481a872-1f51-4fdd-95ec-c3ad9ffc9040 eacf769d-bf42-4c1a-854a-a966923cf00b g.chr15:64025227C>T ENST00000443617.2 - 14 2851 c.2764G>A c.(2764-2766)Gga>Aga p.G922R NM_003922.3 NP_003913.3 Q15751 HERC1_HUMAN HECT and RLD domain containing E3 ubiquitin protein ligase family member 1 922 protein modification process|transport cytosol|Golgi apparatus|membrane acid-amino acid ligase activity|ARF guanyl-nucleotide exchange factor activity p.G922*(2) NS(3)|breast(9)|central_nervous_system(4)|endometrium(23)|haematopoietic_and_lymphoid_tissue(1)|kidney(12)|large_intestine(22)|liver(1)|lung(36)|ovary(7)|prostate(4)|skin(3)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(2) 132 GACAGATTTCCGTAGCCAGTA 0.458000 93 179 0 0 1 0 0 USP37 57695 broad.mit.edu 37 2 219414540 219414540 + Missense_Mutation SNP C C A TCGA-F2-A8YN-01A-11D-A377-08 TCGA-F2-A8YN-10A-01D-A37A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3481a872-1f51-4fdd-95ec-c3ad9ffc9040 eacf769d-bf42-4c1a-854a-a966923cf00b g.chr2:219414540C>A ENST00000258399.3 - 6 833 c.421G>T c.(421-423)Gac>Tac p.D141Y USP37_ENST00000415516.1_Missense_Mutation_p.D69Y|USP37_ENST00000418019.1_Missense_Mutation_p.D141Y|USP37_ENST00000338465.5_Missense_Mutation_p.D141Y|USP37_ENST00000454775.1_Missense_Mutation_p.D141Y NM_020935.2 NP_065986.2 Q86T82 UBP37_HUMAN ubiquitin specific peptidase 37 141 ubiquitin-dependent protein catabolic process nucleus cysteine-type peptidase activity|ubiquitin thiolesterase activity NS(2)|breast(3)|cervix(1)|endometrium(6)|kidney(4)|large_intestine(1)|lung(7)|ovary(2)|prostate(3)|skin(5)|stomach(1) 35 Renal(207;0.0915) Epithelial(149;1.08e-06)|all cancers(144;0.000197)|LUSC - Lung squamous cell carcinoma(224;0.00375)|Lung(261;0.00487) ACCTGATTGTCTGAGTAAGAA 0.488000 49 193 1.21353e-23 1.28904e-23 1 1 0 STEAP3 55240 broad.mit.edu 37 2 120005741 120005741 + Missense_Mutation SNP C C T TCGA-F2-A8YN-01A-11D-A377-08 TCGA-F2-A8YN-10A-01D-A37A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3481a872-1f51-4fdd-95ec-c3ad9ffc9040 eacf769d-bf42-4c1a-854a-a966923cf00b g.chr2:120005741C>T ENST00000354888.5 + 4 1483 c.979C>T c.(979-981)Cgc>Tgc p.R327C STEAP3_ENST00000393106.2_Missense_Mutation_p.R327C|STEAP3_ENST00000409811.1_Missense_Mutation_p.R327C|STEAP3-AS1_ENST00000454260.1_RNA|STEAP3_ENST00000450943.2_Missense_Mutation_p.R327C|STEAP3_ENST00000425223.2_Missense_Mutation_p.R327C|STEAP3_ENST00000393107.2_Missense_Mutation_p.R327C|STEAP3_ENST00000393108.2_Missense_Mutation_p.R327C|STEAP3_ENST00000393110.2_Missense_Mutation_p.R337C NM_182915.2 NP_878919.2 Q658P3 STEA3_HUMAN STEAP family member 3, metalloreductase 327 Ferric oxidoreductase. apoptosis|cell cycle|cellular iron ion homeostasis|protein secretion|transferrin transport|transmembrane transport endosome membrane|integral to membrane|multivesicular body electron carrier activity|flavin adenine dinucleotide binding|iron ion binding breast(1)|central_nervous_system(2)|endometrium(6)|kidney(1)|large_intestine(2)|lung(4)|skin(1) 17 GCCGCTGCGCCGCGCCCACCG 0.647000 11 227 0 0 1 0 0 NPEPPS 9520 broad.mit.edu 37 17 45669380 45669380 + Missense_Mutation SNP A A G TCGA-F2-A8YN-01A-11D-A377-08 TCGA-F2-A8YN-10A-01D-A37A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3481a872-1f51-4fdd-95ec-c3ad9ffc9040 eacf769d-bf42-4c1a-854a-a966923cf00b g.chr17:45669380A>G ENST00000322157.4 + 11 1556 c.1319A>G c.(1318-1320)aAa>aGa p.K440R NPEPPS_ENST00000544660.1_Missense_Mutation_p.K360R|NPEPPS_ENST00000530173.1_Missense_Mutation_p.K436R|NPEPPS_ENST00000525037.1_3'UTR NM_006310.3 NP_006301.3 P55786 PSA_HUMAN aminopeptidase puromycin sensitive 440 proteolysis cytosol|nucleus aminopeptidase activity|metallopeptidase activity|protein binding|zinc ion binding breast(1)|central_nervous_system(1)|endometrium(7)|kidney(1)|large_intestine(6)|lung(7)|prostate(2)|skin(1)|upper_aerodigestive_tract(1) 27 TCATATAGCAAAGGTGCATCT 0.378000 26 146 0 0 1 0 0 RBBP6 5930 broad.mit.edu 37 16 24580170 24580170 + Missense_Mutation SNP G G T TCGA-F2-A8YN-01A-11D-A377-08 TCGA-F2-A8YN-10A-01D-A37A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3481a872-1f51-4fdd-95ec-c3ad9ffc9040 eacf769d-bf42-4c1a-854a-a966923cf00b g.chr16:24580170G>T ENST00000319715.4 + 17 2591 c.2159G>T c.(2158-2160)aGc>aTc p.S720I RBBP6_ENST00000381039.3_Intron|RBBP6_ENST00000348022.2_Missense_Mutation_p.S686I NM_006910.4 NP_008841.2 Q7Z6E9 RBBP6_HUMAN retinoblastoma binding protein 6 720 protein ubiquitination involved in ubiquitin-dependent protein catabolic process chromosome|nucleolus|ubiquitin ligase complex nucleic acid binding|protein binding|ubiquitin-protein ligase activity|zinc ion binding NS(1)|breast(3)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(10)|lung(17)|ovary(4)|pancreas(1)|prostate(2)|urinary_tract(1) 46 GBM - Glioblastoma multiforme(48;0.0518) CGATCATTCAGCCGCTCACAT 0.438000 29 457 7.26314e-15 7.61356e-15 1 1 0 IFITM3 10410 broad.mit.edu 37 11 320606 320606 + Missense_Mutation SNP G G T rs149004156 by1000genomes TCGA-F2-A8YN-01A-11D-A377-08 TCGA-F2-A8YN-10A-01D-A37A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3481a872-1f51-4fdd-95ec-c3ad9ffc9040 eacf769d-bf42-4c1a-854a-a966923cf00b g.chr11:320606G>T ENST00000399808.4 - 1 444 c.208C>A c.(208-210)Ccc>Acc p.P70T IFITM3_ENST00000526811.1_Missense_Mutation_p.P49T|IFITM3_ENST00000602735.1_Missense_Mutation_p.P49T|RP11-326C3.11_ENST00000602756.1_RNA|RP11-326C3.11_ENST00000602429.1_RNA NM_021034.2 NP_066362.2 Q01628 IFM3_HUMAN interferon induced transmembrane protein 3 70 Interaction with SPP1. response to virus|type I interferon-mediated signaling pathway integral to membrane|plasma membrane p.P70T(3) central_nervous_system(7)|endometrium(7)|kidney(2)|large_intestine(1)|lung(1) 18 all_cancers(49;2e-09)|all_epithelial(84;3.36e-06)|Breast(177;0.000162)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.0538)|all_lung(207;0.0713) all cancers(45;8.85e-28)|Epithelial(43;5.52e-27)|OV - Ovarian serous cystadenocarcinoma(40;1.11e-20)|BRCA - Breast invasive adenocarcinoma(625;3.56e-05)|Lung(200;0.0327)|LUSC - Lung squamous cell carcinoma(625;0.122) AGGCAGCAGGGGTTCATGAAG 0.632000 20 482 7.11191e-15 7.48787e-15 1 1 0 FRG1B 0 broad.mit.edu 37 20 29628245 29628245 + Missense_Mutation SNP G G A TCGA-F2-A8YN-01A-11D-A377-08 TCGA-F2-A8YN-10A-01D-A37A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3481a872-1f51-4fdd-95ec-c3ad9ffc9040 eacf769d-bf42-4c1a-854a-a966923cf00b g.chr20:29628245G>A ENST00000278882.3 + 6 627 c.247G>A c.(247-249)Gcc>Acc p.A83T FRG1B_ENST00000439954.2_Missense_Mutation_p.A88T|FRG1B_ENST00000358464.4_Missense_Mutation_p.A83T p.A83T(2) endometrium(10)|kidney(21)|lung(3)|pancreas(1)|prostate(9)|urinary_tract(9) 53 GGCTTTGTTGGCCTCAAATAG 0.353000 7 530 0 0 1 0 0 KCTD19 146212 broad.mit.edu 37 16 67333359 67333359 + Missense_Mutation SNP G G A TCGA-F2-A8YN-01A-11D-A377-08 TCGA-F2-A8YN-10A-01D-A37A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3481a872-1f51-4fdd-95ec-c3ad9ffc9040 eacf769d-bf42-4c1a-854a-a966923cf00b g.chr16:67333359G>A ENST00000304372.5 - 6 948 c.893C>T c.(892-894)cCg>cTg p.P298L KCTD19_ENST00000562860.1_5'UTR NM_001100915.1 NP_001094385.1 Q17RG1 KCD19_HUMAN potassium channel tetramerization domain containing 19 298 voltage-gated potassium channel complex voltage-gated potassium channel activity endometrium(3)|large_intestine(7)|lung(8)|ovary(1)|prostate(1)|skin(3) 23 Ovarian(137;0.192) OV - Ovarian serous cystadenocarcinoma(108;0.0311)|Epithelial(162;0.0906) CGCAGAGTCCGGGTACTTGAC 0.622000 137 413 0 0 1 0 0 FOLH1B 219595 broad.mit.edu 37 11 89395322 89395322 + RNA SNP C C T TCGA-F2-A8YN-01A-11D-A377-08 TCGA-F2-A8YN-10A-01D-A37A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3481a872-1f51-4fdd-95ec-c3ad9ffc9040 eacf769d-bf42-4c1a-854a-a966923cf00b g.chr11:89395322C>T ENST00000532352.1 + 0 720 Q9HBA9 FOH1B_HUMAN folate hydrolase 1B proteolysis cytoplasm dipeptidase activity|metal ion binding|metallopeptidase activity breast(1)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(7)|lung(26)|ovary(4)|skin(4)|urinary_tract(2) 48 TTTCAGAATACGCTTATAGGC 0.343000 5 176 0 0 1 0 0 EP400 57634 broad.mit.edu 37 12 132547093 132547093 + Silent SNP A A G rs60608267 by1000genomes TCGA-F2-A8YN-01A-11D-A377-08 TCGA-F2-A8YN-10A-01D-A37A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3481a872-1f51-4fdd-95ec-c3ad9ffc9040 eacf769d-bf42-4c1a-854a-a966923cf00b g.chr12:132547093A>G ENST00000333577.4 + 48 8398 c.8289A>G c.(8287-8289)caA>caG p.Q2763Q EP400_ENST00000330386.6_Silent_p.Q2646Q|EP400_ENST00000389562.2_Silent_p.Q2726Q|EP400_ENST00000332482.4_Silent_p.Q2690Q|EP400_ENST00000389561.2_Silent_p.Q2727Q Q96L91 EP400_HUMAN E1A binding protein p400 2763 Interaction with ZNF42 (By similarity).|Poly-Gln. histone H2A acetylation|histone H4 acetylation|regulation of transcription, DNA-dependent NuA4 histone acetyltransferase complex|nuclear speck ATP binding|DNA binding|helicase activity p.Q2726Q(9) NS(1)|breast(6)|central_nervous_system(10)|cervix(1)|endometrium(21)|kidney(13)|large_intestine(25)|lung(56)|ovary(5)|prostate(8)|skin(6)|stomach(4)|upper_aerodigestive_tract(2)|urinary_tract(3) 161 all_neural(191;0.0982)|Medulloblastoma(191;0.163) all_epithelial(31;0.198) OV - Ovarian serous cystadenocarcinoma(86;3.01e-08)|Epithelial(86;3.43e-07)|all cancers(50;2.01e-06) agcagcaacaacagcagcagc 0.567000 5 155 0 0 1 0 0 C9 735 broad.mit.edu 37 5 39331865 39331865 + Missense_Mutation SNP G G C TCGA-F2-A8YN-01A-11D-A377-08 TCGA-F2-A8YN-10A-01D-A37A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3481a872-1f51-4fdd-95ec-c3ad9ffc9040 eacf769d-bf42-4c1a-854a-a966923cf00b g.chr5:39331865G>C ENST00000263408.4 - 5 623 c.528C>G c.(526-528)ttC>ttG p.F176L C9_ENST00000509186.1_5'UTR NM_001737.3 NP_001728.1 P02748 CO9_HUMAN complement component 9 176 MACPF. complement activation, alternative pathway|complement activation, classical pathway|cytolysis|hemolysis by symbiont of host erythrocytes extracellular region|membrane attack complex central_nervous_system(1)|endometrium(2)|large_intestine(6)|lung(17)|prostate(3)|skin(2)|upper_aerodigestive_tract(1) 32 all_lung(31;0.000197) all_neural(839;7.57e-10)|Lung NSC(810;2.62e-08)|Ovarian(839;0.00384)|Breast(839;0.0184)|Myeloproliferative disorder(839;0.0511) Epithelial(62;0.158) GTCCATTGTAGAACTCATTGT 0.438000 35 511 0 0 1 0 0 FAM104B 90736 broad.mit.edu 37 X 55172586 55172586 + Silent SNP G G A TCGA-F2-A8YN-01A-11D-A377-08 TCGA-F2-A8YN-10A-01D-A37A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3481a872-1f51-4fdd-95ec-c3ad9ffc9040 eacf769d-bf42-4c1a-854a-a966923cf00b g.chrX:55172586G>A ENST00000425133.2 - 3 320 c.282C>T c.(280-282)tcC>tcT p.S94S FAM104B_ENST00000489298.1_Silent_p.S92S|FAM104B_ENST00000358460.4_Intron|FAM104B_ENST00000477847.2_Silent_p.S90S|FAM104B_ENST00000332132.4_Intron|FAM104B_ENST00000472571.2_3'UTR NM_001166700.1|NM_001166701.1|NM_001166704.1 NP_001160172.1|NP_001160173.1|NP_001160176.1 Q5XKR9 F104B_HUMAN family with sequence similarity 104, member B 0 p.S94S(1) endometrium(3)|large_intestine(2)|lung(2)|upper_aerodigestive_tract(1) 8 GGTTGATATGGGAGTAAAGAC 0.478000 4 181 0 0 1 0 0 CHST15 51363 broad.mit.edu 37 10 125805512 125805512 + Missense_Mutation SNP G G A rs145631200 TCGA-F2-A8YN-01A-11D-A377-08 TCGA-F2-A8YN-10A-01D-A37A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3481a872-1f51-4fdd-95ec-c3ad9ffc9040 eacf769d-bf42-4c1a-854a-a966923cf00b g.chr10:125805512G>A ENST00000346248.5 - 2 859 c.217C>T c.(217-219)Cgc>Tgc p.R73C CHST15_ENST00000421115.1_Missense_Mutation_p.R73C|CHST15_ENST00000435907.1_Missense_Mutation_p.R73C NM_001270764.1|NM_015892.3 NP_001257693.1|NP_056976.2 Q7LFX5 CHSTF_HUMAN carbohydrate (N-acetylgalactosamine 4-sulfate 6-O) sulfotransferase 15 73 hexose biosynthetic process Golgi membrane|integral to membrane 3'-phosphoadenosine 5'-phosphosulfate binding|N-acetylgalactosamine 4-sulfate 6-O-sulfotransferase activity endometrium(4)|kidney(1)|large_intestine(11)|lung(6)|ovary(3)|stomach(1) 26 TTTTTGAAGCGCAAAAACCCA 0.453000 5 473 0 0 1 0 0 EP400 57634 broad.mit.edu 37 12 132547087 132547087 + Silent SNP G G A rs12366766 TCGA-F2-A8YN-01A-11D-A377-08 TCGA-F2-A8YN-10A-01D-A37A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3481a872-1f51-4fdd-95ec-c3ad9ffc9040 eacf769d-bf42-4c1a-854a-a966923cf00b g.chr12:132547087G>A ENST00000333577.4 + 48 8392 c.8283G>A c.(8281-8283)caG>caA p.Q2761Q EP400_ENST00000330386.6_Silent_p.Q2644Q|EP400_ENST00000389562.2_Silent_p.Q2724Q|EP400_ENST00000332482.4_Silent_p.Q2688Q|EP400_ENST00000389561.2_Silent_p.Q2725Q Q96L91 EP400_HUMAN E1A binding protein p400 2761 Interaction with ZNF42 (By similarity).|Poly-Gln. histone H2A acetylation|histone H4 acetylation|regulation of transcription, DNA-dependent NuA4 histone acetyltransferase complex|nuclear speck ATP binding|DNA binding|helicase activity p.Q2724Q(16)|p.Q2725Q(1) NS(1)|breast(6)|central_nervous_system(10)|cervix(1)|endometrium(21)|kidney(13)|large_intestine(25)|lung(56)|ovary(5)|prostate(8)|skin(6)|stomach(4)|upper_aerodigestive_tract(2)|urinary_tract(3) 161 all_neural(191;0.0982)|Medulloblastoma(191;0.163) all_epithelial(31;0.198) OV - Ovarian serous cystadenocarcinoma(86;3.01e-08)|Epithelial(86;3.43e-07)|all cancers(50;2.01e-06) agcagcagcagcaacaacagc 0.562000 5 159 0 0 1 0 0 DHRS4L1 728635 broad.mit.edu 37 14 24517390 24517390 + RNA SNP T T C TCGA-F2-A8YN-01A-11D-A377-08 TCGA-F2-A8YN-10A-01D-A37A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3481a872-1f51-4fdd-95ec-c3ad9ffc9040 eacf769d-bf42-4c1a-854a-a966923cf00b g.chr14:24517390T>C ENST00000558293.1 + 0 463 NR_102693.1 dehydrogenase/reductase (SDR family) member 4 like 1 GGGAAGGCCCTAGCCCTAATG 0.507000 73 162 0 0 1 0 0 TAS1R2 80834 broad.mit.edu 37 1 19181067 19181067 + Silent SNP G G A TCGA-F2-A8YN-01A-11D-A377-08 TCGA-F2-A8YN-10A-01D-A37A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3481a872-1f51-4fdd-95ec-c3ad9ffc9040 eacf769d-bf42-4c1a-854a-a966923cf00b g.chr1:19181067G>A ENST00000375371.3 - 3 918 c.897C>T c.(895-897)atC>atT p.I299I RP13-279N23.2_ENST00000494072.3_3'UTR NM_152232.2 NP_689418.2 Q8TE23 TS1R2_HUMAN taste receptor, type 1, member 2 299 detection of chemical stimulus involved in sensory perception of sweet taste plasma membrane protein heterodimerization activity|taste receptor activity NS(1)|breast(1)|central_nervous_system(1)|endometrium(5)|kidney(4)|large_intestine(10)|lung(14)|ovary(1)|pancreas(3)|prostate(1)|skin(3)|stomach(1) 45 Colorectal(325;3.46e-05)|all_lung(284;0.000321)|Lung NSC(340;0.000398)|Renal(390;0.000518)|Breast(348;0.000812)|Ovarian(437;0.00764)|Myeloproliferative disorder(586;0.0255) UCEC - Uterine corpus endometrioid carcinoma (279;0.00466)|BRCA - Breast invasive adenocarcinoma(304;3.56e-05)|Kidney(64;0.000177)|KIRC - Kidney renal clear cell carcinoma(64;0.00262)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649) Aspartame(DB00168) ACTCGGAGGCGATCCACACGG 0.642000 31 97 0 0 1 0 0 ATP12A 479 broad.mit.edu 37 13 25255720 25255720 + Silent SNP C C T TCGA-F2-A8YN-01A-11D-A377-08 TCGA-F2-A8YN-10A-01D-A37A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3481a872-1f51-4fdd-95ec-c3ad9ffc9040 eacf769d-bf42-4c1a-854a-a966923cf00b g.chr13:25255720C>T ENST00000218548.6 + 2 363 c.30C>T c.(28-30)tcC>tcT p.S10S ATP12A_ENST00000381946.3_Silent_p.S10S NM_001185085.1|NM_001676.5 NP_001172014.1|NP_001667.4 P54707 AT12A_HUMAN ATPase, H+/K+ transporting, nongastric, alpha polypeptide 10 ATP biosynthetic process hydrogen:potassium-exchanging ATPase complex ATP binding|hydrogen:potassium-exchanging ATPase activity|metal ion binding breast(6)|central_nervous_system(4)|endometrium(3)|kidney(5)|large_intestine(23)|lung(23)|ovary(2)|pancreas(1)|prostate(2)|skin(5) 74 Lung SC(185;0.0225)|Breast(139;0.077) all cancers(112;0.0307)|Epithelial(112;0.086)|OV - Ovarian serous cystadenocarcinoma(117;0.228) Esomeprazole(DB00736)|Pantoprazole(DB00213) AAATTTACTCCGTGGAGCTCA 0.522000 91 244 0 0 1 0 0 FRG1B 0 broad.mit.edu 37 20 29625934 29625934 + Missense_Mutation SNP C C T TCGA-F2-A8YN-01A-11D-A377-08 TCGA-F2-A8YN-10A-01D-A37A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3481a872-1f51-4fdd-95ec-c3ad9ffc9040 eacf769d-bf42-4c1a-854a-a966923cf00b g.chr20:29625934C>T ENST00000278882.3 + 5 558 c.178C>T c.(178-180)Cat>Tat p.H60Y FRG1B_ENST00000439954.2_Missense_Mutation_p.H65Y|FRG1B_ENST00000358464.4_Missense_Mutation_p.H60Y endometrium(10)|kidney(21)|lung(3)|pancreas(1)|prostate(9)|urinary_tract(9) 53 ACTTGTTGGGCATTCAGATGC 0.338000 8 446 0 0 1 0 0 DRG1 4733 broad.mit.edu 37 22 31819348 31819348 + Missense_Mutation SNP G G A TCGA-F2-A8YN-01A-11D-A377-08 TCGA-F2-A8YN-10A-01D-A37A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3481a872-1f51-4fdd-95ec-c3ad9ffc9040 eacf769d-bf42-4c1a-854a-a966923cf00b g.chr22:31819348G>A ENST00000331457.4 + 6 826 c.665G>A c.(664-666)cGt>cAt p.R222H NM_004147.3 NP_004138.1 Q9Y295 DRG1_HUMAN developmentally regulated GTP binding protein 1 222 multicellular organismal development|transcription, DNA-dependent cytoplasm|intermediate filament cytoskeleton|nucleus GTP binding|transcription factor binding p.R222H(1) breast(2)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(1)|prostate(1)|urinary_tract(1) 11 GTGACTCTACGTAGTGATGCT 0.478000 7 287 0 0 1 0 0 LRP1B 53353 broad.mit.edu 37 2 141200074 141200074 + Splice_Site SNP G G A TCGA-F2-A8YN-01A-11D-A377-08 TCGA-F2-A8YN-10A-01D-A37A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3481a872-1f51-4fdd-95ec-c3ad9ffc9040 eacf769d-bf42-4c1a-854a-a966923cf00b g.chr2:141200074G>A ENST00000389484.3 - 66 11384 c.10414_splice c.e66+1 p.C3471_splice NM_018557.2 NP_061027.2 Q9NZR2 LRP1B_HUMAN low density lipoprotein receptor-related protein 1B 3471 LDL-receptor class A 24. protein transport|receptor-mediated endocytosis integral to membrane calcium ion binding NS(5)|autonomic_ganglia(1)|biliary_tract(1)|breast(3)|central_nervous_system(7)|endometrium(25)|haematopoietic_and_lymphoid_tissue(10)|kidney(27)|large_intestine(98)|liver(4)|lung(337)|ovary(15)|pancreas(6)|prostate(11)|skin(30)|stomach(2)|upper_aerodigestive_tract(19)|urinary_tract(5) 606 all_cancers(3;1.1e-60)|all_epithelial(3;1.94e-59)|all_lung(3;1.09e-24)|Lung NSC(3;5.65e-24)|Esophageal squamous(3;5.41e-13)|Renal(3;0.000147)|Breast(3;0.000527)|Hepatocellular(3;0.011)|all_neural(3;0.014)|Colorectal(150;0.101) UCEC - Uterine corpus endometrioid carcinoma (2;0.00139)|Epithelial(1;1.25e-24)|all cancers(1;8.86e-24)|OV - Ovarian serous cystadenocarcinoma(1;2.45e-12)|LUSC - Lung squamous cell carcinoma(1;2.97e-10)|Lung(1;6.05e-09)|BRCA - Breast invasive adenocarcinoma(221;0.0103) GACACTCACCGCAGTTGGCCT 0.448000 TSP Lung(27;0.18) 11 325 0 0 1 0 0 ZNF536 9745 broad.mit.edu 37 19 30935392 30935392 + Missense_Mutation SNP C C T TCGA-F2-A8YN-01A-11D-A377-08 TCGA-F2-A8YN-10A-01D-A37A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3481a872-1f51-4fdd-95ec-c3ad9ffc9040 eacf769d-bf42-4c1a-854a-a966923cf00b g.chr19:30935392C>T ENST00000355537.3 + 2 1070 c.923C>T c.(922-924)gCg>gTg p.A308V NM_014717.1 NP_055532.1 O15090 ZN536_HUMAN zinc finger protein 536 308 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus zinc ion binding NS(3)|breast(6)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(22)|lung(119)|ovary(7)|prostate(4)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(3) 182 Esophageal squamous(110;0.0834) TGCGACTTCGCGGCTTCGCAG 0.642000 5 634 0 0 1 0 0 PCDHB6 0 broad.mit.edu 37 5 140530477 140530477 + Silent SNP G G A TCGA-F2-A8YN-01A-11D-A377-08 TCGA-F2-A8YN-10A-01D-A37A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3481a872-1f51-4fdd-95ec-c3ad9ffc9040 eacf769d-bf42-4c1a-854a-a966923cf00b g.chr5:140530477G>A ENST00000231136.1 + 1 639 c.639G>A c.(637-639)gcG>gcA p.A213A PCDHB6_ENST00000543635.1_Silent_p.A77A NM_018939.2 NP_061762.1 Q9Y5E3 PCDB6_HUMAN 213 Cadherin 2. calcium-dependent cell-cell adhesion|homophilic cell adhesion|synapse assembly|synaptic transmission integral to plasma membrane calcium ion binding cervix(1)|endometrium(14)|kidney(6)|large_intestine(16)|liver(1)|lung(33)|ovary(1)|pancreas(2)|prostate(1)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1) 84 KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339) CGCTGATCGCGCTGGATGGCG 0.602000 88 200 0 0 1 0 0 CD164 8763 broad.mit.edu 37 6 109690132 109690132 + Silent SNP C C T TCGA-F2-A8YN-01A-11D-A377-08 TCGA-F2-A8YN-10A-01D-A37A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3481a872-1f51-4fdd-95ec-c3ad9ffc9040 eacf769d-bf42-4c1a-854a-a966923cf00b g.chr6:109690132C>T ENST00000368961.5 - 4 600 c.420G>A c.(418-420)ctG>ctA p.L140L CD164_ENST00000413644.2_Silent_p.L172L|CD164_ENST00000324953.5_Silent_p.L153L|CD164_ENST00000512821.1_Intron|CD164_ENST00000506649.1_5'UTR|CD164_ENST00000310786.4_Silent_p.L172L|CD164_ENST00000504373.1_Silent_p.L138L|CD164_ENST00000275080.7_Silent_p.L159L Q04900 MUC24_HUMAN CD164 molecule, sialomucin 172 Thr-rich. hemopoiesis|heterophilic cell-cell adhesion|immune response|muscle organ development|negative regulation of cell adhesion|negative regulation of cell proliferation|signal transduction endosome membrane|extracellular region|integral to plasma membrane|lysosomal membrane protein binding breast(1)|lung(2) 3 all_cancers(87;4.65e-22)|all_epithelial(87;2.54e-20)|all_lung(197;1.6e-05)|Lung NSC(302;2.92e-05)|Colorectal(196;3.46e-05)|Ovarian(999;0.0175) Epithelial(106;7.83e-46)|all cancers(137;1.15e-45)|OV - Ovarian serous cystadenocarcinoma(136;2.89e-26)|BRCA - Breast invasive adenocarcinoma(108;0.00128)|GBM - Glioblastoma multiforme(226;0.16) CACCCAAGACCAGGACAATTC 0.388000 138 109 0 0 1 0 0 MST1L 0 broad.mit.edu 37 1 17084066 17084066 + RNA SNP G G A TCGA-F2-A8YN-01A-11D-A377-08 TCGA-F2-A8YN-10A-01D-A37A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3481a872-1f51-4fdd-95ec-c3ad9ffc9040 eacf769d-bf42-4c1a-854a-a966923cf00b g.chr1:17084066G>A ENST00000455405.2 - 0 646 TCGCTCTCCCGCACATGTCCT 0.602000 30 459 0 0 1 0 0 CUL9 23113 broad.mit.edu 37 6 43171608 43171608 + Missense_Mutation SNP C C T TCGA-F2-A8YN-01A-11D-A377-08 TCGA-F2-A8YN-10A-01D-A37A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3481a872-1f51-4fdd-95ec-c3ad9ffc9040 eacf769d-bf42-4c1a-854a-a966923cf00b g.chr6:43171608C>T ENST00000252050.4 + 20 4126 c.4042C>T c.(4042-4044)Cgc>Tgc p.R1348C CUL9_ENST00000354495.3_Missense_Mutation_p.R1238C|CUL9_ENST00000372647.2_Missense_Mutation_p.R1348C NM_015089.2 NP_055904.1 Q8IWT3 CUL9_HUMAN cullin 9 1348 ubiquitin-dependent protein catabolic process cullin-RING ubiquitin ligase complex|cytoplasm ATP binding|ubiquitin protein ligase binding|zinc ion binding breast(3)|central_nervous_system(1)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(18)|liver(1)|lung(30)|ovary(5)|prostate(3)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(4) 92 CAGGGTTTTGCGCCACGAGCA 0.582000 7 1125 0 0 1 0 0 BAI1 575 broad.mit.edu 37 8 143569790 143569790 + Missense_Mutation SNP C C T TCGA-F2-A8YN-01A-11D-A377-08 TCGA-F2-A8YN-10A-01D-A37A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3481a872-1f51-4fdd-95ec-c3ad9ffc9040 eacf769d-bf42-4c1a-854a-a966923cf00b g.chr8:143569790C>T ENST00000517894.1 + 14 3268 c.2374C>T c.(2374-2376)Cgg>Tgg p.R792W BAI1_ENST00000323289.5_Missense_Mutation_p.R792W O14514 BAI1_HUMAN brain-specific angiogenesis inhibitor 1 792 axonogenesis|cell adhesion|negative regulation of angiogenesis|negative regulation of cell proliferation|neuropeptide signaling pathway|peripheral nervous system development cell-cell junction|integral to plasma membrane G-protein coupled receptor activity|protein binding NS(1)|breast(3)|central_nervous_system(2)|cervix(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(2)|lung(28)|ovary(4)|pancreas(1)|prostate(7) 57 all_cancers(97;2.84e-12)|all_epithelial(106;5.91e-09)|Lung NSC(106;0.000322)|all_lung(105;0.000616)|Medulloblastoma(13;0.00276)|all_neural(13;0.00559)|Ovarian(258;0.0315)|Acute lymphoblastic leukemia(118;0.155) GAAGGGCTGGCGGGCCACGGG 0.632000 6 465 0 0 1 0 0 ISY1-RAB43 0 broad.mit.edu 37 3 128859253 128859253 + Missense_Mutation SNP C C T TCGA-F2-A8YN-01A-11D-A377-08 TCGA-F2-A8YN-10A-01D-A37A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3481a872-1f51-4fdd-95ec-c3ad9ffc9040 eacf769d-bf42-4c1a-854a-a966923cf00b g.chr3:128859253C>T ENST00000418265.1 - 7 436 c.376G>A c.(376-378)Gca>Aca p.A126T ISY1_ENST00000393292.3_Missense_Mutation_p.A126T|ISY1_ENST00000471497.1_5'UTR|ISY1_ENST00000273541.8_Missense_Mutation_p.A126T|ISY1_ENST00000393295.3_Missense_Mutation_p.A126T NM_001204890.1 NP_001191819.1 Q9ULR0 ISY1_HUMAN 126 catalytic step 2 spliceosome AAATCTTTTGCTGCTCCAAAG 0.368000 6 727 0 0 1 0 0 LRP1B 53353 broad.mit.edu 37 2 141267495 141267495 + Splice_Site SNP A A G TCGA-F2-A8YN-01A-11D-A377-08 TCGA-F2-A8YN-10A-01D-A37A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3481a872-1f51-4fdd-95ec-c3ad9ffc9040 eacf769d-bf42-4c1a-854a-a966923cf00b g.chr2:141267495A>G ENST00000389484.3 - 52 9370 c.e52+1 NM_018557.2 NP_061027.2 Q9NZR2 LRP1B_HUMAN low density lipoprotein receptor-related protein 1B protein transport|receptor-mediated endocytosis integral to membrane calcium ion binding NS(5)|autonomic_ganglia(1)|biliary_tract(1)|breast(3)|central_nervous_system(7)|endometrium(25)|haematopoietic_and_lymphoid_tissue(10)|kidney(27)|large_intestine(98)|liver(4)|lung(337)|ovary(15)|pancreas(6)|prostate(11)|skin(30)|stomach(2)|upper_aerodigestive_tract(19)|urinary_tract(5) 606 all_cancers(3;1.1e-60)|all_epithelial(3;1.94e-59)|all_lung(3;1.09e-24)|Lung NSC(3;5.65e-24)|Esophageal squamous(3;5.41e-13)|Renal(3;0.000147)|Breast(3;0.000527)|Hepatocellular(3;0.011)|all_neural(3;0.014)|Colorectal(150;0.101) UCEC - Uterine corpus endometrioid carcinoma (2;0.00139)|Epithelial(1;1.25e-24)|all cancers(1;8.86e-24)|OV - Ovarian serous cystadenocarcinoma(1;2.45e-12)|LUSC - Lung squamous cell carcinoma(1;2.97e-10)|Lung(1;6.05e-09)|BRCA - Breast invasive adenocarcinoma(221;0.0103) CAGTGTTCATACCGCAGCCTG 0.512000 TSP Lung(27;0.18) 6 362 0 0 1 0 0 WDR63 126820 broad.mit.edu 37 1 85575766 85575766 + Silent SNP C C T TCGA-F2-A8YN-01A-11D-A377-08 TCGA-F2-A8YN-10A-01D-A37A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3481a872-1f51-4fdd-95ec-c3ad9ffc9040 eacf769d-bf42-4c1a-854a-a966923cf00b g.chr1:85575766C>T ENST00000294664.6 + 16 1914 c.1734C>T c.(1732-1734)caC>caT p.H578H WDR63_ENST00000370596.1_Silent_p.H539H|WDR63_ENST00000326813.8_Silent_p.H539H NM_145172.3 NP_660155.2 Q8IWG1 WDR63_HUMAN WD repeat domain 63 578 NS(1)|breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(13)|ovary(2)|skin(2)|upper_aerodigestive_tract(3) 36 all cancers(265;0.00391)|Epithelial(280;0.00922)|Colorectal(170;0.166) GTTTAGACCACTGTCCAACCA 0.388000 137 381 0 0 1 0 0 MLLT3 4300 broad.mit.edu 37 9 20414379 20414379 + Silent SNP G G A TCGA-F2-A8YN-01A-11D-A377-08 TCGA-F2-A8YN-10A-01D-A37A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3481a872-1f51-4fdd-95ec-c3ad9ffc9040 eacf769d-bf42-4c1a-854a-a966923cf00b g.chr9:20414379G>A ENST00000380338.4 - 5 751 c.465C>T c.(463-465)agC>agT p.S155S MLLT3_ENST00000355930.6_5'UTR|MLLT3_ENST00000475957.1_5'UTR|MLLT3_ENST00000429426.2_Silent_p.S152S NM_004529.2 NP_004520.2 P42568 AF9_HUMAN myeloid/lymphoid or mixed-lineage leukemia (trithorax homolog, Drosophila); translocated to, 3 155 Poly-Ser. regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus protein binding p.S155S(4) central_nervous_system(1)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(6)|lung(24)|ovary(1)|prostate(4)|skin(1)|urinary_tract(7) 66 GBM - Glioblastoma multiforme(3;4.35e-105)|Lung(42;3.48e-06)|LUSC - Lung squamous cell carcinoma(42;7.92e-05) tgctgctactgctgctgctgc 0.532000 T MLL ALL 7 211 0 0 1 0 0 DKC1 1736 broad.mit.edu 37 X 154001414 154001414 + Missense_Mutation SNP T T A TCGA-F2-A8YN-01A-11D-A377-08 TCGA-F2-A8YN-10A-01D-A37A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3481a872-1f51-4fdd-95ec-c3ad9ffc9040 eacf769d-bf42-4c1a-854a-a966923cf00b g.chrX:154001414T>A ENST00000369550.5 + 11 1255 c.1045T>A c.(1045-1047)Tta>Ata p.L349I DKC1_ENST00000475966.1_3'UTR NM_001142463.1|NM_001363.3 NP_001135935.1|NP_001354.1 O60832 DKC1_HUMAN dyskeratosis congenita 1, dyskerin 349 PUA. cell proliferation|pseudouridine synthesis|rRNA processing|telomere maintenance via telomerase Cajal body|nucleolus|telomerase holoenzyme complex protein binding|pseudouridine synthase activity|RNA binding|telomerase activity breast(2)|central_nervous_system(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(3)|prostate(1) 15 all_cancers(53;8.15e-17)|all_epithelial(53;1.1e-10)|all_lung(58;6.63e-07)|Lung NSC(58;2.08e-06)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176)|Renal(33;0.214) AGCTATTGCATTAATGACCAC 0.408000 Congenital Dyskeratosis 20 336 0 0 1 0 0 SEC63 11231 broad.mit.edu 37 6 108234626 108234626 + Missense_Mutation SNP G G A TCGA-F2-A8YN-01A-11D-A377-08 TCGA-F2-A8YN-10A-01D-A37A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3481a872-1f51-4fdd-95ec-c3ad9ffc9040 eacf769d-bf42-4c1a-854a-a966923cf00b g.chr6:108234626G>A ENST00000369002.4 - 5 637 c.458C>T c.(457-459)aCg>aTg p.T153M NM_007214.4 NP_009145.1 Q9UGP8 SEC63_HUMAN SEC63 homolog (S. cerevisiae) 153 J. protein folding|protein targeting to membrane endoplasmic reticulum membrane|integral to membrane heat shock protein binding|receptor activity|unfolded protein binding p.T153M(1) endometrium(3)|kidney(4)|large_intestine(7)|lung(14)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 36 all_cancers(87;5.35e-06)|Acute lymphoblastic leukemia(125;2.66e-08)|all_hematologic(75;1.13e-06)|all_epithelial(87;0.00225)|Colorectal(196;0.0294) BRCA - Breast invasive adenocarcinoma(108;0.0079)|Epithelial(106;0.0356)|all cancers(137;0.0525)|OV - Ovarian serous cystadenocarcinoma(136;0.054) CTCTTCATCCGTTAAACTAGC 0.358000 6 1040 0 0 1 0 0 KRT26 353288 broad.mit.edu 37 17 38926251 38926251 + Nonsense_Mutation SNP G G A TCGA-F2-A8YN-01A-11D-A377-08 TCGA-F2-A8YN-10A-01D-A37A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3481a872-1f51-4fdd-95ec-c3ad9ffc9040 eacf769d-bf42-4c1a-854a-a966923cf00b g.chr17:38926251G>A ENST00000335552.4 - 4 853 c.805C>T c.(805-807)Cag>Tag p.Q269* NM_181539.4 NP_853517.2 Q7Z3Y9 K1C26_HUMAN keratin 26 269 Coil 2.|Rod. intermediate filament structural molecule activity central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(6)|lung(5) 16 Breast(137;0.00526) TTGCGGTTCTGCTCAGCCAAG 0.522000 236 342 0 0 1 0 0 OLFML2B 25903 broad.mit.edu 37 1 161953664 161953664 + Missense_Mutation SNP G G A TCGA-F2-A8YN-01A-11D-A377-08 TCGA-F2-A8YN-10A-01D-A37A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3481a872-1f51-4fdd-95ec-c3ad9ffc9040 eacf769d-bf42-4c1a-854a-a966923cf00b g.chr1:161953664G>A ENST00000294794.3 - 8 2477 c.2054C>T c.(2053-2055)gCc>gTc p.A685V OLFML2B_ENST00000367940.2_Missense_Mutation_p.A686V|OLFML2B_ENST00000367938.1_Missense_Mutation_p.A168V NM_015441.1 NP_056256.1 Q68BL8 OLM2B_HUMAN olfactomedin-like 2B 685 Olfactomedin-like. p.A685V(2) breast(1)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(11)|lung(22)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2) 48 all_hematologic(112;0.156) BRCA - Breast invasive adenocarcinoma(70;0.0172) GCTATCCACGGCATACAGCAC 0.562000 6 645 0 0 1 0 0 MAP7D1 55700 broad.mit.edu 37 1 36638181 36638181 + Missense_Mutation SNP C C T TCGA-F2-A8YN-01A-11D-A377-08 TCGA-F2-A8YN-10A-01D-A37A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3481a872-1f51-4fdd-95ec-c3ad9ffc9040 eacf769d-bf42-4c1a-854a-a966923cf00b g.chr1:36638181C>T ENST00000316156.4 + 4 1030 c.577C>T c.(577-579)Cgt>Tgt p.R193C MAP7D1_ENST00000373151.2_Missense_Mutation_p.R193C|MAP7D1_ENST00000373150.4_Missense_Mutation_p.R193C|MAP7D1_ENST00000474796.1_3'UTR Q3KQU3 MA7D1_HUMAN MAP7 domain containing 1 193 cytoplasm|spindle breast(2)|cervix(1)|endometrium(2)|large_intestine(3)|lung(3)|ovary(3)|prostate(3)|skin(1)|urinary_tract(1) 19 Myeloproliferative disorder(586;0.0393) CGAGCAACGCCGTGCAGCCCT 0.627000 34 79 0 0 1 0 0 NCOA3 8202 broad.mit.edu 37 20 46279860 46279860 + Silent SNP G G A rs151060280 byFrequency TCGA-F2-A8YN-01A-11D-A377-08 TCGA-F2-A8YN-10A-01D-A37A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3481a872-1f51-4fdd-95ec-c3ad9ffc9040 eacf769d-bf42-4c1a-854a-a966923cf00b g.chr20:46279860G>A ENST00000372004.3 + 20 3990 c.3774G>A c.(3772-3774)caG>caA p.Q1258Q NCOA3_ENST00000341724.6_Silent_p.Q1188Q|NCOA3_ENST00000371998.3_Silent_p.Q1262Q|NCOA3_ENST00000371997.3_Silent_p.Q1253Q 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 1262 Acetyltransferase.|Poly-Gln. 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 p.Q1262Q(1) 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 agcagcagcagcagcaacagc 0.567000 8 223 0 0 1 0 0 DENND2C 163259 broad.mit.edu 37 1 115130471 115130471 + Missense_Mutation SNP C C T TCGA-F2-A8YN-01A-11D-A377-08 TCGA-F2-A8YN-10A-01D-A37A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3481a872-1f51-4fdd-95ec-c3ad9ffc9040 eacf769d-bf42-4c1a-854a-a966923cf00b g.chr1:115130471C>T ENST00000393274.1 - 19 3159 c.2534G>A c.(2533-2535)cGt>cAt p.R845H DENND2C_ENST00000481894.1_5'UTR|DENND2C_ENST00000393277.1_Missense_Mutation_p.R733H|DENND2C_ENST00000393276.3_Missense_Mutation_p.R788H NM_001256404.1 NP_001243333.1 Q68D51 DEN2C_HUMAN DENN/MADD domain containing 2C 845 dDENN. NS(2)|breast(2)|cervix(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(10)|lung(10)|pancreas(1)|skin(3) 37 all_epithelial(7;9.54e-05)|all_lung(7;0.000179)|Lung NSC(6;0.00195)|Lung SC(450;0.211) all_cancers(81;4.64e-07)|all_epithelial(167;4.2e-07)|all_lung(203;9.97e-06)|Lung NSC(69;1.74e-05) Lung(183;0.0234)|Colorectal(144;0.0686)|COAD - Colon adenocarcinoma(174;0.111)|all cancers(265;0.112)|Epithelial(280;0.124)|LUSC - Lung squamous cell carcinoma(189;0.133) TTGGAAAACACGCTCCCCACG 0.478000 5 309 0 0 1 0 0 HMGB3 3149 broad.mit.edu 37 X 150156360 150156360 + Silent SNP G G A TCGA-F2-A8YN-01A-11D-A377-08 TCGA-F2-A8YN-10A-01D-A37A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3481a872-1f51-4fdd-95ec-c3ad9ffc9040 eacf769d-bf42-4c1a-854a-a966923cf00b g.chrX:150156360G>A ENST00000325307.7 + 5 672 c.576G>A c.(574-576)gaG>gaA p.E192E HMGB3_ENST00000448905.2_Silent_p.E192E NM_005342.2 NP_005333.2 O15347 HMGB3_HUMAN high mobility group box 3 192 Asp/Glu-rich (acidic). DNA recombination|multicellular organismal development chromosome|nucleus DNA bending activity|double-stranded DNA binding p.E192E(1) endometrium(3)|large_intestine(2)|lung(2)|skin(1) 8 Acute lymphoblastic leukemia(192;6.56e-05) aggaagaagaggaggaggagg 0.443000 6 287 0 0 1 0 0 LGR4 55366 broad.mit.edu 37 11 27389696 27389696 + Silent SNP G G A TCGA-F2-A8YN-01A-11D-A377-08 TCGA-F2-A8YN-10A-01D-A37A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3481a872-1f51-4fdd-95ec-c3ad9ffc9040 eacf769d-bf42-4c1a-854a-a966923cf00b g.chr11:27389696G>A ENST00000379214.4 - 18 3017 c.2574C>T c.(2572-2574)tgC>tgT p.C858C LGR4_ENST00000389858.4_Silent_p.C834C NM_018490.2 NP_060960.2 Q9BXB1 LGR4_HUMAN leucine-rich repeat containing G protein-coupled receptor 4 858 integral to membrane|plasma membrane protein-hormone receptor activity p.C858C(1) NS(3)|breast(2)|endometrium(3)|kidney(2)|large_intestine(11)|lung(10)|ovary(1) 32 CGCAGCAGTCGCAAACAGTCA 0.458000 6 827 0 0 1 0 0 MECR 51102 broad.mit.edu 37 1 29543138 29543138 + Missense_Mutation SNP G G A TCGA-F2-A8YN-01A-11D-A377-08 TCGA-F2-A8YN-10A-01D-A37A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3481a872-1f51-4fdd-95ec-c3ad9ffc9040 eacf769d-bf42-4c1a-854a-a966923cf00b g.chr1:29543138G>A ENST00000373791.3 - 2 380 c.8C>T c.(7-9)gCg>gTg p.A3V MECR_ENST00000489248.1_5'UTR|MECR_ENST00000263702.6_Missense_Mutation_p.A79V NM_001024732.1|NM_016011.2 NP_001019903.1|NP_057095.2 Q9BV79 MECR_HUMAN mitochondrial trans-2-enoyl-CoA reductase 79 fatty acid biosynthetic process mitochondrion trans-2-enoyl-CoA reductase (NADPH) activity|zinc ion binding NS(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(1)|ovary(2)|prostate(1) 11 Colorectal(325;0.000389)|Breast(348;0.00765)|Lung NSC(340;0.0081)|all_lung(284;0.00914)|all_neural(195;0.0199)|Ovarian(437;0.0228)|Myeloproliferative disorder(586;0.0255)|Medulloblastoma(700;0.123) Colorectal(126;3.39e-07)|COAD - Colon adenocarcinoma(152;2.04e-05)|STAD - Stomach adenocarcinoma(196;0.0195)|BRCA - Breast invasive adenocarcinoma(304;0.053)|READ - Rectum adenocarcinoma(331;0.0649)|KIRC - Kidney renal clear cell carcinoma(1967;0.137) GATAGGGGCCGCCAGCATCTT 0.463000 6 922 0 0 1 0 0 KRTAP4-6 81871 broad.mit.edu 37 17 39296282 39296282 + Missense_Mutation SNP G G T TCGA-F2-A8YN-01A-11D-A377-08 TCGA-F2-A8YN-10A-01D-A37A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3481a872-1f51-4fdd-95ec-c3ad9ffc9040 eacf769d-bf42-4c1a-854a-a966923cf00b g.chr17:39296282G>T ENST00000345847.4 - 1 457 c.458C>A c.(457-459)tCt>tAt p.S153Y NM_030976.1 NP_112238.1 Q9BYQ5 KRA46_HUMAN keratin associated protein 4-6 149 29 X 5 AA repeats of C-C-[IRQVEL]-[SPTR]- [STVQRCP]. keratin filament endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|lung(1)|prostate(1)|urinary_tract(1) 9 ttcacagcaagaggggcggca 0.662000 6 135 0.000157383 0.000161436 1 1 0 ZNF845 91664 broad.mit.edu 37 19 53856730 53856730 + Silent SNP G G A TCGA-F2-A8YN-01A-11D-A377-08 TCGA-F2-A8YN-10A-01D-A37A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3481a872-1f51-4fdd-95ec-c3ad9ffc9040 eacf769d-bf42-4c1a-854a-a966923cf00b g.chr19:53856730G>A ENST00000458035.1 + 4 2919 c.2802G>A c.(2800-2802)aaG>aaA p.K934K ZNF845_ENST00000595091.1_Silent_p.K934K NM_138374.1 NP_612383.1 Q96IR2 ZN845_HUMAN zinc finger protein 845 934 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding p.K934K(3) endometrium(2)|kidney(10)|lung(7)|pancreas(1)|prostate(1)|skin(2)|stomach(1)|urinary_tract(2) 26 TAATTCATAAGACAATTCATA 0.368000 6 179 0 0 1 0 0 NDUFV2 4729 broad.mit.edu 37 18 9122540 9122540 + Missense_Mutation SNP G G A TCGA-F2-A8YN-01A-11D-A377-08 TCGA-F2-A8YN-10A-01D-A37A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3481a872-1f51-4fdd-95ec-c3ad9ffc9040 eacf769d-bf42-4c1a-854a-a966923cf00b g.chr18:9122540G>A ENST00000400033.1 + 6 456 c.339G>A c.(337-339)atG>atA p.M113I RP11-21J18.1_ENST00000579126.1_RNA|NDUFV2_ENST00000318388.6_Missense_Mutation_p.M110I|RP11-143J12.2_ENST00000582375.1_RNA|NDUFV2_ENST00000465096.1_3'UTR|RP11-143J12.2_ENST00000583081.1_RNA P19404 NDUV2_HUMAN NADH dehydrogenase (ubiquinone) flavoprotein 2, 24kDa 110 cardiac muscle tissue development|mitochondrial electron transport, NADH to ubiquinone|nervous system development|transport mitochondrial respiratory chain complex I 2 iron, 2 sulfur cluster binding|electron carrier activity|metal ion binding|NAD binding|NADH dehydrogenase (ubiquinone) activity breast(1)|lung(4)|ovary(1)|stomach(1) 7 NADH(DB00157) TACCTCCAATGAGAGTATATG 0.328000 11 1039 0 0 1 0 0 STAB2 55576 broad.mit.edu 37 12 103988268 103988268 + Missense_Mutation SNP G G A rs151009841 byFrequency TCGA-F2-A8YN-01A-11D-A377-08 TCGA-F2-A8YN-10A-01D-A37A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3481a872-1f51-4fdd-95ec-c3ad9ffc9040 eacf769d-bf42-4c1a-854a-a966923cf00b g.chr12:103988268G>A ENST00000388887.2 + 3 515 c.311G>A c.(310-312)cGc>cAc p.R104H NM_017564.9 NP_060034.9 Q8WWQ8 STAB2_HUMAN stabilin 2 104 angiogenesis|cell adhesion|defense response to bacterium|receptor-mediated endocytosis cytoplasm|external side of plasma membrane|integral to plasma membrane Gram-negative bacterial cell surface binding|hyaluronic acid binding|low-density lipoprotein receptor activity|protein disulfide oxidoreductase activity|scavenger receptor activity NS(4)|breast(7)|central_nervous_system(1)|cervix(1)|endometrium(15)|kidney(11)|large_intestine(26)|lung(77)|ovary(10)|pancreas(1)|prostate(5)|skin(14)|stomach(2) 174 TGTCCTGGCCGCTGGGGCCCA 0.493000 5 386 0 0 1 0 0 OR52I1 390037 broad.mit.edu 37 11 4615445 4615445 + Silent SNP G G A TCGA-F2-A8YN-01A-11D-A377-08 TCGA-F2-A8YN-10A-01D-A37A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3481a872-1f51-4fdd-95ec-c3ad9ffc9040 eacf769d-bf42-4c1a-854a-a966923cf00b g.chr11:4615445G>A ENST00000450052.2 + 2 249 c.249G>A c.(247-249)cgG>cgA p.R83R OR52I1_ENST00000530443.2_Silent_p.R59R Q8NGK6 O52I1_HUMAN olfactory receptor, family 52, subfamily I, member 1 59 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity central_nervous_system(2)|endometrium(2)|kidney(1)|large_intestine(3)|lung(6)|ovary(1) 15 Medulloblastoma(188;0.0075)|Breast(177;0.0461)|all_neural(188;0.0577) Epithelial(150;7.98e-12)|BRCA - Breast invasive adenocarcinoma(625;0.0284)|LUSC - Lung squamous cell carcinoma(625;0.19) ATTCCACTCGGCATGAGCCCA 0.517000 5 614 0 0 1 0 0 NCOA6 23054 broad.mit.edu 37 20 33345744 33345744 + Silent SNP C C T TCGA-F2-A8YN-01A-11D-A377-08 TCGA-F2-A8YN-10A-01D-A37A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3481a872-1f51-4fdd-95ec-c3ad9ffc9040 eacf769d-bf42-4c1a-854a-a966923cf00b g.chr20:33345744C>T ENST00000374796.2 - 8 3377 c.807G>A c.(805-807)caG>caA p.Q269Q NCOA6_ENST00000359003.2_Silent_p.Q269Q Q14686 NCOA6_HUMAN nuclear receptor coactivator 6 269 CREBBP-binding region.|Gln-rich.|NCOA1-binding region.|TBP/GTF2A-binding region. brain development|cellular lipid metabolic process|DNA recombination|DNA repair|DNA replication|estrogen receptor signaling pathway|glucocorticoid receptor signaling pathway|heart development|myeloid cell differentiation|positive regulation of transcription from RNA polymerase II promoter|response to hormone stimulus|transcription initiation from RNA polymerase II promoter transcription factor complex chromatin binding|enzyme binding|estrogen receptor binding|ligand-dependent nuclear receptor transcription coactivator activity|retinoid X receptor binding|thyroid hormone receptor binding p.Q269Q(15) NS(2)|breast(6)|central_nervous_system(3)|cervix(1)|endometrium(9)|kidney(8)|large_intestine(16)|lung(37)|ovary(4)|prostate(5)|skin(13)|upper_aerodigestive_tract(2)|urinary_tract(1) 107 gctgctgctgctgttgttgtt 0.537000 6 210 0 0 1 0 0 TYW1B 441250 broad.mit.edu 37 7 72209576 72209576 + RNA SNP C C G rs147711959 by1000genomes TCGA-F2-A8YN-01A-11D-A377-08 TCGA-F2-A8YN-10A-01D-A37A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3481a872-1f51-4fdd-95ec-c3ad9ffc9040 eacf769d-bf42-4c1a-854a-a966923cf00b g.chr7:72209576C>G ENST00000438125.1 - 0 579 Q6NUM6 TYW1B_HUMAN tRNA-yW synthesizing protein 1 homolog B (S. cerevisiae) tRNA processing 4 iron, 4 sulfur cluster binding|FMN binding|iron ion binding|oxidoreductase activity CTCGGAGCATCGACTATGACA 0.413000 4 321 0 0 1 0 0 ATP10A 57194 broad.mit.edu 37 15 25947218 25947218 + Missense_Mutation SNP C C G TCGA-F2-A8YN-01A-11D-A377-08 TCGA-F2-A8YN-10A-01D-A37A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3481a872-1f51-4fdd-95ec-c3ad9ffc9040 eacf769d-bf42-4c1a-854a-a966923cf00b g.chr15:25947218C>G ENST00000356865.6 - 13 2716 c.2605G>C c.(2605-2607)Gac>Cac p.D869H NM_024490.3 NP_077816.1 O60312 AT10A_HUMAN ATPase, class V, type 10A 869 ATP biosynthetic process|regulation of cell shape integral to membrane|plasma membrane ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|magnesium ion binding|phospholipid-translocating ATPase activity NS(1)|breast(2)|endometrium(8)|kidney(2)|large_intestine(33)|liver(1)|lung(41)|ovary(3)|pancreas(2)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(2) 103 all_cancers(20;5.16e-25)|all_lung(180;1.51e-14)|Acute lymphoblastic leukemia(1;2.53e-05)|all_hematologic(1;0.000267)|Breast(32;0.00125) all cancers(64;9.48e-07)|Epithelial(43;1.69e-06)|BRCA - Breast invasive adenocarcinoma(123;0.0252)|Lung(196;0.244) GGGACTCCGTCCTGCAGGCGG 0.527000 15 362 0 0 1 0 0 RP11-798G7.5 0 broad.mit.edu 37 17 43587569 43587569 + RNA SNP G G C rs149697015 by1000genomes TCGA-F2-A8YN-01A-11D-A377-08 TCGA-F2-A8YN-10A-01D-A37A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3481a872-1f51-4fdd-95ec-c3ad9ffc9040 eacf769d-bf42-4c1a-854a-a966923cf00b g.chr17:43587569G>C ENST00000253803.2 + 0 267 LRRC37A4P_ENST00000579913.1_RNA aactccgtctgaaaagaaaag 0.443000 12 161 0 0 1 0 0 SRSF4 6429 broad.mit.edu 37 1 29475219 29475221 + In_Frame_Del DEL CTT CTT - rs138237342 by1000genomes TCGA-F2-A8YN-01A-11D-A377-08 TCGA-F2-A8YN-10A-01D-A37A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3481a872-1f51-4fdd-95ec-c3ad9ffc9040 eacf769d-bf42-4c1a-854a-a966923cf00b g.chr1:29475219_29475221delCTT ENST00000373795.4 - 6 1420_1422 c.1186_1188delAAG c.(1186-1188)del p.K396del SRSF4_ENST00000546138.1_3'UTR|SRSF4_ENST00000466448.1_5'UTR NM_005626.4 NP_005617.2 Q08170 SRSF4_HUMAN serine/arginine-rich splicing factor 4 396 Arg/Ser-rich (RS domain). mRNA 3'-end processing|mRNA export from nucleus|nuclear mRNA splicing, via spliceosome|termination of RNA polymerase II transcription nuclear speck nucleotide binding|RNA binding breast(2)|central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(8)|liver(1)|lung(8)|ovary(1)|prostate(1) 27 CAGTGTCTTCCTTCTTCTTCTTC 0.601 12 696 --- --- --- --- CCDC28B 79140 broad.mit.edu 37 1 32670247 32670248 + Frame_Shift_Del DEL TG TG - TCGA-F2-A8YN-01A-11D-A377-08 TCGA-F2-A8YN-10A-01D-A37A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3481a872-1f51-4fdd-95ec-c3ad9ffc9040 eacf769d-bf42-4c1a-854a-a966923cf00b g.chr1:32670247_32670248delTG ENST00000421922.2 + 5 674_675 c.574_575delTG c.(574-576)tfs p.C192fs CCDC28B_ENST00000483009.1_Intron|CCDC28B_ENST00000373602.5_Intron Q9BUN5 CC28B_HUMAN coiled-coil domain containing 28B 0 large_intestine(4)|lung(3)|ovary(1)|upper_aerodigestive_tract(2) 10 Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0837)|Ovarian(437;0.101)|Breast(348;0.174) AACCCGTCTATGTGTGTGTGTT 0.500 7 1116 --- --- --- --- SNIP1 79753 broad.mit.edu 37 1 38003368 38003370 + In_Frame_Del DEL TCC TCC - TCGA-F2-A8YN-01A-11D-A377-08 TCGA-F2-A8YN-10A-01D-A37A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3481a872-1f51-4fdd-95ec-c3ad9ffc9040 eacf769d-bf42-4c1a-854a-a966923cf00b g.chr1:38003368_38003370delTCC ENST00000296215.6 - 4 1242_1244 c.1170_1172delGGA c.(1168-1173)gaa>ga p.EE390del NM_024700.3 NP_078976.2 Q8TAD8 SNIP1_HUMAN Smad nuclear interacting protein 1 390 Poly-Glu. production of miRNAs involved in gene silencing by miRNA nucleus protein binding breast(2)|cervix(2)|endometrium(1)|large_intestine(3)|lung(15)|ovary(1)|upper_aerodigestive_tract(1) 25 Myeloproliferative disorder(586;0.0393) AGACACTTCTTCCTCCTCCTCCT 0.448 8 609 --- --- --- --- FNDC7 163479 broad.mit.edu 37 1 109276138 109276138 + Frame_Shift_Del DEL A A - TCGA-F2-A8YN-01A-11D-A377-08 TCGA-F2-A8YN-10A-01D-A37A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3481a872-1f51-4fdd-95ec-c3ad9ffc9040 eacf769d-bf42-4c1a-854a-a966923cf00b g.chr1:109276138delA ENST00000370017.3 + 10 2401 c.2124delA c.(2122-2124)ccfs p.P708fs FNDC7_ENST00000271311.2_Frame_Shift_Del_p.P709fs NM_001144937.1 NP_001138409.1 Q5VTL7 FNDC7_HUMAN fibronectin type III domain containing 7 709 Fibronectin type-III 8. extracellular region p.I478fs*4(1) breast(1)|endometrium(1)|kidney(3)|large_intestine(2)|lung(6)|ovary(1)|skin(4)|stomach(1)|urinary_tract(1) 20 all_lung(203;0.00439)|Lung NSC(277;0.00683)|all_epithelial(167;0.00728) Colorectal(144;0.0314)|Lung(183;0.0924)|COAD - Colon adenocarcinoma(174;0.119)|Epithelial(280;0.173)|all cancers(265;0.244) CTTTCTGTCCAAAAAAAATAT 0.363 7 461 --- --- --- --- VANGL1 81839 broad.mit.edu 37 1 116206586 116206586 + Frame_Shift_Del DEL T T - TCGA-F2-A8YN-01A-11D-A377-08 TCGA-F2-A8YN-10A-01D-A37A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3481a872-1f51-4fdd-95ec-c3ad9ffc9040 eacf769d-bf42-4c1a-854a-a966923cf00b g.chr1:116206586delT ENST00000355485.2 + 4 780 c.509delT c.(508-510)ctfs p.L170fs VANGL1_ENST00000310260.3_Frame_Shift_Del_p.L170fs|VANGL1_ENST00000369509.1_Frame_Shift_Del_p.L170fs|VANGL1_ENST00000369510.3_Frame_Shift_Del_p.L168fs NM_001172411.1|NM_138959.2 NP_001165882.1|NP_620409.1 Q8TAA9 VANG1_HUMAN VANGL planar cell polarity protein 1 170 multicellular organismal development integral to membrane protein binding p.F171fs*93(1) NS(1)|breast(1)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(2)|liver(2)|lung(13)|urinary_tract(1) 27 Lung SC(450;0.211) all_cancers(81;1.24e-06)|all_epithelial(167;1.02e-06)|all_lung(203;7.95e-06)|Lung NSC(69;4.97e-05) Lung(183;0.0171)|Colorectal(144;0.0686)|LUSC - Lung squamous cell carcinoma(189;0.0903)|all cancers(265;0.108)|COAD - Colon adenocarcinoma(174;0.111)|Epithelial(280;0.12) ACCTGGGCACTTTTTTTCCGC 0.493 8 778 --- --- --- --- ADAMTSL4 54507 broad.mit.edu 37 1 150530506 150530506 + Frame_Shift_Del DEL G G - rs149280379 TCGA-F2-A8YN-01A-11D-A377-08 TCGA-F2-A8YN-10A-01D-A37A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3481a872-1f51-4fdd-95ec-c3ad9ffc9040 eacf769d-bf42-4c1a-854a-a966923cf00b g.chr1:150530506delG ENST00000271643.4 + 14 2499 c.2263delG c.(2263-2265)ggfs p.G758fs ADAMTSL4_ENST00000369041.5_Frame_Shift_Del_p.G758fs|ADAMTSL4_ENST00000369039.5_Frame_Shift_Del_p.G781fs|ADAMTSL4_ENST00000369038.2_Frame_Shift_Del_p.G758fs NM_019032.4 NP_061905.2 Q6UY14 ATL4_HUMAN ADAMTS-like 4 758 TSP type-1 2. apoptosis|positive regulation of apoptosis metalloendopeptidase activity|protease binding breast(1)|cervix(1)|endometrium(6)|large_intestine(3)|lung(13)|ovary(2)|prostate(3)|skin(3) 32 all_cancers(9;3.13e-53)|all_epithelial(9;3.74e-43)|all_lung(15;2.43e-34)|Lung NSC(24;8.86e-31)|Breast(34;0.000326)|Lung SC(34;0.00471)|Ovarian(49;0.0167)|all_hematologic(923;0.0395)|Hepatocellular(266;0.108)|Melanoma(130;0.128)|Colorectal(459;0.171) UCEC - Uterine corpus endometrioid carcinoma (35;0.0241)|Epithelial(6;3.18e-23)|all cancers(9;1.79e-22)|OV - Ovarian serous cystadenocarcinoma(6;1.13e-14)|BRCA - Breast invasive adenocarcinoma(12;0.000503)|LUSC - Lung squamous cell carcinoma(543;0.171)|STAD - Stomach adenocarcinoma(528;0.206) GCAGGAATTTGGGGGGGGTGG 0.692 7 598 --- --- --- --- KIAA0907 22889 broad.mit.edu 37 1 155886422 155886423 + Frame_Shift_Del DEL CT CT - TCGA-F2-A8YN-01A-11D-A377-08 TCGA-F2-A8YN-10A-01D-A37A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3481a872-1f51-4fdd-95ec-c3ad9ffc9040 eacf769d-bf42-4c1a-854a-a966923cf00b g.chr1:155886422_155886423delCT ENST00000368320.3 - 12 1571_1572 c.1546_1547delAG c.(1546-1548)gfs p.R516fs KIAA0907_ENST00000368321.3_Frame_Shift_Del_p.R516fs Q7Z7F0 K0907_HUMAN KIAA0907 516 p.R516fs*21(1) breast(1)|endometrium(2)|kidney(1)|large_intestine(4)|liver(1)|lung(11)|urinary_tract(1) 21 Hepatocellular(266;0.133)|all_hematologic(923;0.145)|all_neural(408;0.195) OV - Ovarian serous cystadenocarcinoma(3;8.82e-06) TTACCTGTCCCTCTCTCTCTCT 0.396 11 816 --- --- --- --- GPATCH4 54865 broad.mit.edu 37 1 156565503 156565504 + Frame_Shift_Ins INS - - T TCGA-F2-A8YN-01A-11D-A377-08 TCGA-F2-A8YN-10A-01D-A37A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3481a872-1f51-4fdd-95ec-c3ad9ffc9040 eacf769d-bf42-4c1a-854a-a966923cf00b g.chr1:156565503_156565504insT ENST00000368232.4 - 8 746_747 c.614_615insA c.(613-615)aaafs p.K205fs GPATCH4_ENST00000438976.2_Frame_Shift_Ins_p.K210fs|GPATCH4_ENST00000497287.1_5'UTR NM_015590.3|NM_182679.2 NP_056405.2|NP_872620.1 Q5T3I0 GPTC4_HUMAN G patch domain containing 4 205 intracellular nucleic acid binding autonomic_ganglia(1)|breast(2)|kidney(1)|large_intestine(1)|lung(5)|ovary(1)|prostate(2)|skin(3)|stomach(1) 17 all_hematologic(923;0.088)|Hepatocellular(266;0.158) TTTTCTTTTTCTTTTTTTTGGG 0.535 8 457 --- --- --- --- CD1D 912 broad.mit.edu 37 1 158151257 158151257 + Frame_Shift_Del DEL T T - TCGA-F2-A8YN-01A-11D-A377-08 TCGA-F2-A8YN-10A-01D-A37A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3481a872-1f51-4fdd-95ec-c3ad9ffc9040 eacf769d-bf42-4c1a-854a-a966923cf00b g.chr1:158151257delT ENST00000368171.3 + 3 573 c.74delT c.(73-75)ctfs p.L25fs NM_001766.3 NP_001757.1 P15813 CD1D_HUMAN CD1d molecule 25 antigen processing and presentation, endogenous lipid antigen via MHC class Ib|detection of bacterium|innate immune response|interspecies interaction between organisms|positive regulation of innate immune response|T cell selection endosome membrane|integral to plasma membrane|lysosomal membrane beta-2-microglobulin binding|exogenous lipid antigen binding|histone binding endometrium(1)|kidney(2)|large_intestine(2)|lung(19)|ovary(1)|prostate(3)|urinary_tract(2) 30 all_hematologic(112;0.0378) CCGCAAAGGCTTTTCCCCCTC 0.592 8 1921 --- --- --- --- NOS1AP 9722 broad.mit.edu 37 1 162326888 162326890 + In_Frame_Del DEL CAG CAG - TCGA-F2-A8YN-01A-11D-A377-08 TCGA-F2-A8YN-10A-01D-A37A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3481a872-1f51-4fdd-95ec-c3ad9ffc9040 eacf769d-bf42-4c1a-854a-a966923cf00b g.chr1:162326888_162326890delCAG ENST00000361897.5 + 8 1303_1305 c.901_903delCAG c.(901-903)del p.Q306del NOS1AP_ENST00000530878.1_In_Frame_Del_p.Q301del NM_001164757.1|NM_014697.2 NP_001158229.1|NP_055512.1 O75052 CAPON_HUMAN nitric oxide synthase 1 (neuronal) adaptor protein 306 Poly-Gln. regulation of apoptosis|regulation of nitric oxide biosynthetic process|regulation of nitric-oxide synthase activity nitric-oxide synthase binding|PDZ domain binding NS(1)|breast(1)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(7)|lung(12)|skin(1)|upper_aerodigestive_tract(2) 32 all_hematologic(112;0.203) BRCA - Breast invasive adenocarcinoma(70;0.0537) gcagctcctccagcagcAGCAGC 0.611 10 261 --- --- --- --- POU2F1 5451 broad.mit.edu 37 1 167385016 167385018 + In_Frame_Del DEL CCA CCA - TCGA-F2-A8YN-01A-11D-A377-08 TCGA-F2-A8YN-10A-01D-A37A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3481a872-1f51-4fdd-95ec-c3ad9ffc9040 eacf769d-bf42-4c1a-854a-a966923cf00b g.chr1:167385016_167385018delCCA ENST00000367862.5 + 16 2472_2474 c.2237_2239delCCA c.(2236-2241)tcc>t p.ST746del POU2F1_ENST00000541643.3_In_Frame_Del_p.ST734del|POU2F1_ENST00000367866.2_In_Frame_Del_p.ST757del|POU2F1_ENST00000429375.2_In_Frame_Del_p.ST694del|POU2F1_ENST00000367865.1_3'UTR|POU2F1_ENST00000420254.3_Intron NM_001198783.1 NP_001185712.1 P14859 PO2F1_HUMAN POU class 2 homeobox 1 734 negative regulation of transcription, DNA-dependent|transcription from RNA polymerase III promoter nucleoplasm protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity breast(2)|central_nervous_system(2)|endometrium(4)|kidney(2)|large_intestine(3)|liver(2)|lung(7)|ovary(2)|prostate(2)|skin(3)|urinary_tract(1) 30 GGGGCTGCGTCCACCACCACCAC 0.601 7 673 --- --- --- --- IPO9 55705 broad.mit.edu 37 1 201843998 201844000 + In_Frame_Del DEL GAG GAG - TCGA-F2-A8YN-01A-11D-A377-08 TCGA-F2-A8YN-10A-01D-A37A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3481a872-1f51-4fdd-95ec-c3ad9ffc9040 eacf769d-bf42-4c1a-854a-a966923cf00b g.chr1:201843998_201844000delGAG ENST00000361565.4 + 22 2941_2943 c.2872_2874delGAG c.(2872-2874)del p.E962del NM_018085.4 NP_060555.2 Q96P70 IPO9_HUMAN importin 9 962 protein import into nucleus cytoplasm|nucleus histone binding|protein transporter activity cervix(1)|endometrium(5)|kidney(4)|large_intestine(5)|lung(16)|ovary(2)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1) 38 ggaggaggaagaggaggaggagg 0.443 9 505 --- --- --- --- MTR 4548 broad.mit.edu 37 1 237024474 237024474 + Frame_Shift_Del DEL A A - TCGA-F2-A8YN-01A-11D-A377-08 TCGA-F2-A8YN-10A-01D-A37A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3481a872-1f51-4fdd-95ec-c3ad9ffc9040 eacf769d-bf42-4c1a-854a-a966923cf00b g.chr1:237024474delA ENST00000366577.5 + 20 2487 c.2093delA c.(2092-2094)cafs p.Q698fs MTR_ENST00000535889.1_Intron NM_000254.2 NP_000245.2 Q99707 METH_HUMAN 5-methyltetrahydrofolate-homocysteine methyltransferase 698 B12-binding N-terminal. nervous system development|xenobiotic metabolic process cytosol cobalamin binding|homocysteine S-methyltransferase activity|methionine synthase activity|protein binding|zinc ion binding breast(4)|central_nervous_system(1)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(8)|lung(30)|ovary(1)|pancreas(1)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(1) 67 Ovarian(103;0.0634)|Breast(184;0.221) all_cancers(173;2.79e-22)|all_epithelial(177;4.84e-14)|Breast(1374;0.00123)|Prostate(94;0.0181)|Lung SC(1967;0.0262)|Acute lymphoblastic leukemia(190;0.117) OV - Ovarian serous cystadenocarcinoma(106;0.0106) KIRC - Kidney renal clear cell carcinoma(1967;0.248) Hydroxocobalamin(DB00200)|L-Methionine(DB00134)|Tetrahydrofolic acid(DB00116) AGGTTAAACCAAAAAAAATAT 0.308 11 449 --- --- --- --- APOB 338 broad.mit.edu 37 2 21247750 21247751 + Splice_Site INS - - A rs35442885 TCGA-F2-A8YN-01A-11D-A377-08 TCGA-F2-A8YN-10A-01D-A37A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3481a872-1f51-4fdd-95ec-c3ad9ffc9040 eacf769d-bf42-4c1a-854a-a966923cf00b g.chr2:21247750_21247751insA ENST00000399256.4 - 17 2421 c.e17-2 APOB_ENST00000233242.1_Intron P04114 APOB_HUMAN apolipoprotein B 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 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) CTGGGCGATCTAAAAAAAAACC 0.530 9 299 --- --- --- --- KIF3C 3797 broad.mit.edu 37 2 26203464 26203466 + In_Frame_Del DEL GTT GTT - TCGA-F2-A8YN-01A-11D-A377-08 TCGA-F2-A8YN-10A-01D-A37A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3481a872-1f51-4fdd-95ec-c3ad9ffc9040 eacf769d-bf42-4c1a-854a-a966923cf00b g.chr2:26203464_26203466delGTT ENST00000264712.3 - 1 1900_1902 c.1321_1323delAAC c.(1321-1323)del p.N441del KIF3C_ENST00000405914.1_In_Frame_Del_p.N441del NM_002254.6 NP_002245.4 O14782 KIF3C_HUMAN kinesin family member 3C 441 Poly-Asn. blood coagulation|microtubule-based movement cytosol|kinesin complex|microtubule ATP binding|microtubule motor activity breast(3)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(8)|ovary(4)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 29 Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215) GCGGGCGGTGGTTGTTGTTGTTG 0.621 7 627 --- --- --- --- AC010733.4 0 broad.mit.edu 37 2 61079924 61079924 + RNA DEL A A - rs144707130 TCGA-F2-A8YN-01A-11D-A377-08 TCGA-F2-A8YN-10A-01D-A37A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3481a872-1f51-4fdd-95ec-c3ad9ffc9040 eacf769d-bf42-4c1a-854a-a966923cf00b g.chr2:61079924delA ENST00000452343.1 - 0 230 NR_033980.1 CTGGACTGTTAAAAAAAAAAA 0.338 2 4 --- --- --- --- AC074391.1 0 broad.mit.edu 37 2 65738863 65738863 + RNA DEL G G - TCGA-F2-A8YN-01A-11D-A377-08 TCGA-F2-A8YN-10A-01D-A37A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3481a872-1f51-4fdd-95ec-c3ad9ffc9040 eacf769d-bf42-4c1a-854a-a966923cf00b g.chr2:65738863delG ENST00000377977.3 + 0 862 TTTTTTTTTTGTCCAGGAGGC 0.303 8 12 --- --- --- --- DYSF 8291 broad.mit.edu 37 2 71801420 71801422 + In_Frame_Del DEL CCG CCG - TCGA-F2-A8YN-01A-11D-A377-08 TCGA-F2-A8YN-10A-01D-A37A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3481a872-1f51-4fdd-95ec-c3ad9ffc9040 eacf769d-bf42-4c1a-854a-a966923cf00b g.chr2:71801420_71801422delCCG ENST00000258104.3 + 30 3544_3546 c.3267_3269delCCG c.(3265-3270)ttc>tt p.FR1089del DYSF_ENST00000413539.2_In_Frame_Del_p.FR1120del|DYSF_ENST00000410041.1_In_Frame_Del_p.FR1107del|DYSF_ENST00000409762.1_In_Frame_Del_p.FR1106del|DYSF_ENST00000409651.1_In_Frame_Del_p.FR1121del|DYSF_ENST00000409582.3_In_Frame_Del_p.FR1106del|DYSF_ENST00000410020.3_In_Frame_Del_p.FR1107del|DYSF_ENST00000409366.1_In_Frame_Del_p.FR1090del|DYSF_ENST00000394120.2_In_Frame_Del_p.FR1090del|DYSF_ENST00000409744.1_In_Frame_Del_p.FR1076del|DYSF_ENST00000429174.2_In_Frame_Del_p.FR1089del NM_001130976.1|NM_003494.3 NP_001124448.1|NP_003485.1 O75923 DYSF_HUMAN dysferlin 1089 Arg-rich. cytoplasmic vesicle membrane|integral to membrane|sarcolemma calcium-dependent phospholipid binding autonomic_ganglia(2)|breast(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(22)|lung(57)|ovary(3)|pancreas(1)|prostate(2)|skin(6)|upper_aerodigestive_tract(3)|urinary_tract(2) 111 CAGATGCCTTCCGCCGCCGCCGC 0.655 8 884 --- --- --- --- ZDBF2 57683 broad.mit.edu 37 2 207174427 207174428 + Frame_Shift_Ins INS - - A TCGA-F2-A8YN-01A-11D-A377-08 TCGA-F2-A8YN-10A-01D-A37A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3481a872-1f51-4fdd-95ec-c3ad9ffc9040 eacf769d-bf42-4c1a-854a-a966923cf00b g.chr2:207174427_207174428insA ENST00000374423.3 + 5 5561_5562 c.5175_5176insA c.(5173-5178)gaaaaafs p.EK1725fs NM_020923.1 NP_065974.1 Q9HCK1 ZDBF2_HUMAN zinc finger, DBF-type containing 2 1725 nucleic acid binding|zinc ion binding endometrium(4)|kidney(5)|large_intestine(28)|lung(50)|ovary(4)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 95 GAAGGGCTGATAAAAAAAAACG 0.450 7 219 --- --- --- --- MST1 4485 broad.mit.edu 37 3 49723322 49723327 + In_Frame_Del DEL GCGCTG GCGCTG - TCGA-F2-A8YN-01A-11D-A377-08 TCGA-F2-A8YN-10A-01D-A37A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3481a872-1f51-4fdd-95ec-c3ad9ffc9040 eacf769d-bf42-4c1a-854a-a966923cf00b g.chr3:49723322_49723327delGCGCTG ENST00000449682.2 - 10 1577_1582 c.1216_1221delCAGCGC c.(1216-1221)del p.QR406del MST1_ENST00000383728.3_3'UTR NM_020998.3 NP_066278.3 P26927 HGFL_HUMAN macrophage stimulating 1 (hepatocyte growth factor-like) 392 Kringle 4. proteolysis extracellular region serine-type endopeptidase activity NS(4)|breast(1)|central_nervous_system(1)|endometrium(10)|kidney(1)|large_intestine(1)|lung(9)|prostate(2)|skin(9)|stomach(1)|urinary_tract(2) 41 BRCA - Breast invasive adenocarcinoma(193;4.47e-05)|Kidney(197;0.00216)|KIRC - Kidney renal clear cell carcinoma(197;0.00244) CAGCGGACCAGCGCTGGCACTGGACA 0.704 8 584 --- --- --- --- MAGI1 9223 broad.mit.edu 37 3 65372850 65372851 + Frame_Shift_Del DEL TC TC - TCGA-F2-A8YN-01A-11D-A377-08 TCGA-F2-A8YN-10A-01D-A37A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3481a872-1f51-4fdd-95ec-c3ad9ffc9040 eacf769d-bf42-4c1a-854a-a966923cf00b g.chr3:65372850_65372851delTC ENST00000330909.8 - 15 2466_2467 c.2467_2468delGA c.(2467-2469)afs p.E823fs MAGI1_ENST00000483466.1_Frame_Shift_Del_p.E823fs|MAGI1_ENST00000497477.2_Intron|MAGI1_ENST00000402939.2_Intron NM_015520.1 NP_056335.1 Q96QZ7 MAGI1_HUMAN membrane associated guanylate kinase, WW and PDZ domain containing 1 823 PDZ 4. cell adhesion|cell surface receptor linked signaling pathway|protein complex assembly tight junction ATP binding|protein C-terminus binding breast(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(11)|liver(1)|lung(21)|pancreas(1)|skin(5) 51 Lung NSC(201;0.0016) BRCA - Breast invasive adenocarcinoma(55;0.00138)|KIRC - Kidney renal clear cell carcinoma(15;0.0988)|Kidney(15;0.133) GGAATTGATTTCTCTCTCTCTC 0.401 7 272 --- --- --- --- TMCC1 23023 broad.mit.edu 37 3 129370576 129370578 + In_Frame_Del DEL CTG CTG - TCGA-F2-A8YN-01A-11D-A377-08 TCGA-F2-A8YN-10A-01D-A37A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3481a872-1f51-4fdd-95ec-c3ad9ffc9040 eacf769d-bf42-4c1a-854a-a966923cf00b g.chr3:129370576_129370578delCTG ENST00000393238.3 - 6 2048_2050 c.1708_1710delCAG c.(1708-1710)del p.Q570del TMCC1_ENST00000432054.2_In_Frame_Del_p.Q246del|TMCC1_ENST00000329333.5_In_Frame_Del_p.Q391del|TMCC1_ENST00000426664.2_In_Frame_Del_p.Q456del NM_001017395.3 NP_001017395.2 O94876 TMCC1_HUMAN transmembrane and coiled-coil domain family 1 570 integral to membrane PLXND1/TMCC1(4) breast(1)|endometrium(3)|large_intestine(8)|lung(12)|skin(1) 25 GCTGCACCACCTGCTGCTGCTGC 0.581 16 515 --- --- --- --- MED12L 116931 broad.mit.edu 37 3 151148114 151148116 + In_Frame_Del DEL CAG CAG - TCGA-F2-A8YN-01A-11D-A377-08 TCGA-F2-A8YN-10A-01D-A37A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3481a872-1f51-4fdd-95ec-c3ad9ffc9040 eacf769d-bf42-4c1a-854a-a966923cf00b g.chr3:151148114_151148116delCAG ENST00000474524.1 + 42 6369_6371 c.6331_6333delCAG c.(6331-6333)del p.Q2115del MED12L_ENST00000273432.4_In_Frame_Del_p.Q1779del NM_053002.4 NP_443728.3 Q86YW9 MD12L_HUMAN mediator complex subunit 12-like 2115 Gln-rich. regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent mediator complex p.Q2111E(1) NS(1)|breast(3)|central_nervous_system(3)|cervix(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|kidney(9)|large_intestine(27)|lung(50)|ovary(6)|prostate(3)|skin(4)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(1) 128 LUSC - Lung squamous cell carcinoma(72;0.0394)|Lung(72;0.0517) GCAGCAGACCCAGCAGCAGCAGC 0.527 9 364 --- --- --- --- GOLIM4 27333 broad.mit.edu 37 3 167747642 167747644 + In_Frame_Del DEL CTG CTG - rs61743912 byFrequency TCGA-F2-A8YN-01A-11D-A377-08 TCGA-F2-A8YN-10A-01D-A37A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3481a872-1f51-4fdd-95ec-c3ad9ffc9040 eacf769d-bf42-4c1a-854a-a966923cf00b g.chr3:167747642_167747644delCTG ENST00000470487.1 - 10 2046_2048 c.1357_1359delCAG c.(1357-1359)del p.Q453del GOLIM4_ENST00000309027.4_In_Frame_Del_p.Q425del NM_014498.3 NP_055313.1 O00461 GOLI4_HUMAN golgi integral membrane protein 4 453 Gln-rich.|Glu-rich. transport cis-Golgi network|endocytic vesicle|endosome membrane|Golgi cisterna membrane|Golgi lumen|integral to membrane|nucleus breast(5)|endometrium(2)|large_intestine(8)|lung(26)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 47 CTCTTGCCACctgctgctgctgc 0.640 9 217 --- --- --- --- RRH 10692 broad.mit.edu 37 4 110756541 110756541 + Frame_Shift_Del DEL T T - TCGA-F2-A8YN-01A-11D-A377-08 TCGA-F2-A8YN-10A-01D-A37A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3481a872-1f51-4fdd-95ec-c3ad9ffc9040 eacf769d-bf42-4c1a-854a-a966923cf00b g.chr4:110756541delT ENST00000317735.4 + 3 351 c.317delT c.(316-318)atfs p.I106fs NM_006583.2 NP_006574.1 O14718 OPSX_HUMAN retinal pigment epithelium-derived rhodopsin homolog 106 phototransduction|protein-chromophore linkage|visual perception integral to plasma membrane G-protein coupled receptor activity|photoreceptor activity endometrium(1)|kidney(1)|large_intestine(4)|lung(4)|ovary(1)|pancreas(1) 12 Hepatocellular(203;0.217) OV - Ovarian serous cystadenocarcinoma(123;0.00109) GGATTGAATATTTTTTTTGGA 0.393 8 436 --- --- --- --- HMGB2 3148 broad.mit.edu 37 4 174253277 174253279 + In_Frame_Del DEL TCC TCC - TCGA-F2-A8YN-01A-11D-A377-08 TCGA-F2-A8YN-10A-01D-A37A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3481a872-1f51-4fdd-95ec-c3ad9ffc9040 eacf769d-bf42-4c1a-854a-a966923cf00b g.chr4:174253277_174253279delTCC ENST00000296503.5 - 5 1455_1457 c.582_584delGGA c.(580-585)gaa>ga p.EE196del HMGB2_ENST00000446922.2_In_Frame_Del_p.EE196del|HMGB2_ENST00000438704.2_In_Frame_Del_p.EE196del P26583 HMGB2_HUMAN high mobility group box 2 196 Asp/Glu-rich (acidic). base-excision repair, DNA ligation|cell chemotaxis|cellular response to lipopolysaccharide|DNA fragmentation involved in apoptotic nuclear change|DNA topological change|negative regulation of transcription, DNA-dependent|nucleosome assembly|phosphatidylinositol-mediated signaling|positive regulation of DNA binding|positive regulation of endothelial cell proliferation|positive regulation of erythrocyte differentiation|positive regulation of megakaryocyte differentiation|positive regulation of nuclease activity|positive regulation of transcription from RNA polymerase II promoter|V(D)J recombination condensed chromosome|extracellular space|nucleolus|nucleoplasm|perinuclear region of cytoplasm|protein complex chemoattractant activity|damaged DNA binding|DNA bending activity|double-stranded DNA binding|RAGE receptor binding|sequence-specific DNA binding transcription factor activity|single-stranded DNA binding|transcription regulatory region DNA binding p.E194E(1) endometrium(2)|kidney(1)|large_intestine(2)|lung(6)|urinary_tract(3) 14 Prostate(90;0.0132)|Renal(120;0.0183)|Melanoma(52;0.0749)|all_hematologic(60;0.107)|all_neural(102;0.122) all cancers(43;9.58e-18)|Epithelial(43;3.75e-16)|OV - Ovarian serous cystadenocarcinoma(60;6.24e-09)|STAD - Stomach adenocarcinoma(60;0.00273)|GBM - Glioblastoma multiforme(59;0.0064)|LUSC - Lung squamous cell carcinoma(193;0.0903)|Kidney(143;0.249) atcttcttcttcctcctcctcct 0.468 7 497 --- --- --- --- ZFR 51663 broad.mit.edu 37 5 32419951 32419953 + In_Frame_Del DEL GGT GGT - TCGA-F2-A8YN-01A-11D-A377-08 TCGA-F2-A8YN-10A-01D-A37A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3481a872-1f51-4fdd-95ec-c3ad9ffc9040 eacf769d-bf42-4c1a-854a-a966923cf00b g.chr5:32419951_32419953delGGT ENST00000265069.8 - 3 495_497 c.393_395delACC c.(391-396)ccc>cc p.PP131del NM_016107.3 NP_057191.2 Q96KR1 ZFR_HUMAN zinc finger RNA binding protein 131 Ala-rich. multicellular organismal development chromosome|cytoplasm|nucleus DNA binding|RNA binding|zinc ion binding breast(1)|endometrium(3)|kidney(3)|large_intestine(9)|lung(14)|upper_aerodigestive_tract(2) 32 STAD - Stomach adenocarcinoma(35;0.19) AGTAGCTGGGGGTGGTGGTGGTG 0.483 10 904 --- --- --- --- SLC30A5 64924 broad.mit.edu 37 5 68400512 68400512 + Frame_Shift_Del DEL T T - TCGA-F2-A8YN-01A-11D-A377-08 TCGA-F2-A8YN-10A-01D-A37A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3481a872-1f51-4fdd-95ec-c3ad9ffc9040 eacf769d-bf42-4c1a-854a-a966923cf00b g.chr5:68400512delT ENST00000396591.3 + 4 938 c.328delT c.(328-330)ttfs p.F111fs SLC30A5_ENST00000380860.4_3'UTR NM_022902.4 NP_075053.2 Q8TAD4 ZNT5_HUMAN solute carrier family 30 (zinc transporter), member 5 111 cellular zinc ion homeostasis|cobalt ion transport|regulation of proton transport|response to zinc ion apical plasma membrane|Golgi apparatus|integral to plasma membrane|membrane fraction|secretory granule membrane zinc ion binding|zinc ion transmembrane transporter activity breast(3)|central_nervous_system(1)|endometrium(1)|kidney(3)|large_intestine(6)|lung(6)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 25 Lung NSC(167;0.000986)|Prostate(74;0.00809)|Colorectal(97;0.0508)|Ovarian(174;0.16) OV - Ovarian serous cystadenocarcinoma(47;1.24e-56)|Epithelial(20;1.12e-52)|all cancers(19;2.63e-48)|Lung(70;0.0177) ACTCTTGTGGTTTTTTGGCCT 0.279 7 839 --- --- --- --- IK 3550 broad.mit.edu 37 5 140032593 140032594 + Frame_Shift_Del DEL GA GA - TCGA-F2-A8YN-01A-11D-A377-08 TCGA-F2-A8YN-10A-01D-A37A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3481a872-1f51-4fdd-95ec-c3ad9ffc9040 eacf769d-bf42-4c1a-854a-a966923cf00b g.chr5:140032593_140032594delGA ENST00000417647.2 + 5 407_408 c.268_269delGA c.(268-270)gfs p.E90fs IK_ENST00000523672.1_3'UTR NM_006083.3 NP_006074.2 Q13123 RED_HUMAN IK cytokine, down-regulator of HLA II 90 cell-cell signaling|immune response extracellular space|nucleus|soluble fraction large_intestine(1) 1 all_hematologic(541;4.8e-07)|all_lung(500;0.000434)|Lung NSC(810;0.00161)|Breast(839;0.128) KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191) ACAAGAAATTGAGAGAGAGAGA 0.460 7 189 --- --- --- --- PPP1R18 170954 broad.mit.edu 37 6 30653494 30653496 + In_Frame_Del DEL TGC TGC - TCGA-F2-A8YN-01A-11D-A377-08 TCGA-F2-A8YN-10A-01D-A37A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3481a872-1f51-4fdd-95ec-c3ad9ffc9040 eacf769d-bf42-4c1a-854a-a966923cf00b g.chr6:30653494_30653496delTGC ENST00000274853.3 - 1 2176_2178 c.300_302delGCA c.(298-303)caa>ca p.QQ102del PPP1R18_ENST00000488324.1_Intron|PPP1R18_ENST00000399199.3_In_Frame_Del_p.QQ102del NM_133471.3 NP_597728.1 Q6NYC8 PHTNS_HUMAN protein phosphatase 1, regulatory subunit 18 102 Poly-Gln. cytoplasm|cytoskeleton actin binding p.Q100Q(1) CCGTtgttgttgctgctgctgct 0.650 7 242 --- --- --- --- CDSN 1041 broad.mit.edu 37 6 31084620 31084622 + In_Frame_Del DEL CCA CCA - TCGA-F2-A8YN-01A-11D-A377-08 TCGA-F2-A8YN-10A-01D-A37A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3481a872-1f51-4fdd-95ec-c3ad9ffc9040 eacf769d-bf42-4c1a-854a-a966923cf00b g.chr6:31084620_31084622delCCA ENST00000376288.2 - 2 796_798 c.770_772delTGG c.(769-774)gac>g p.VD257del PSORS1C1_ENST00000467107.1_3'UTR|PSORS1C1_ENST00000259881.9_Intron NM_001264.4 NP_001255.3 Q15517 CDSN_HUMAN corneodesmosin 257 Ser-rich. cell-cell adhesion|keratinocyte differentiation|skin morphogenesis cornified envelope|desmosome|extracellular region protein homodimerization activity central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(3)|ovary(1)|pancreas(1) 10 CCGTGCTGGTCCACCACCACCAC 0.635 9 304 --- --- --- --- PRRC2A 7916 broad.mit.edu 37 6 31597338 31597340 + In_Frame_Del DEL AGC AGC - TCGA-F2-A8YN-01A-11D-A377-08 TCGA-F2-A8YN-10A-01D-A37A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3481a872-1f51-4fdd-95ec-c3ad9ffc9040 eacf769d-bf42-4c1a-854a-a966923cf00b g.chr6:31597338_31597340delAGC ENST00000376033.2 + 14 2204_2206 c.1970_1972delAGC c.(1969-1974)aag>a p.KQ657del PRRC2A_ENST00000376007.4_In_Frame_Del_p.KQ657del NM_004638.3 NP_004629.3 P48634 PRC2A_HUMAN proline-rich coiled-coil 2A 657 4 X 57 AA type A repeats. cytoplasm|nucleus protein binding breast(6)|central_nervous_system(1)|endometrium(7)|kidney(5)|large_intestine(14)|lung(19)|ovary(3)|pancreas(2)|prostate(4)|skin(5)|soft_tissue(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 70 CAGCTCCTGAagcagcagcagca 0.567 7 1177 --- --- --- --- RUNX2 860 broad.mit.edu 37 6 45390446 45390448 + In_Frame_Del DEL CAG CAG - TCGA-F2-A8YN-01A-11D-A377-08 TCGA-F2-A8YN-10A-01D-A37A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3481a872-1f51-4fdd-95ec-c3ad9ffc9040 eacf769d-bf42-4c1a-854a-a966923cf00b g.chr6:45390446_45390448delCAG ENST00000371438.1 + 2 533_535 c.175_177delCAG c.(175-177)del p.Q71del RUNX2_ENST00000371436.6_In_Frame_Del_p.Q71del|RUNX2_ENST00000576263.1_In_Frame_Del_p.Q71del|RUNX2_ENST00000359524.5_In_Frame_Del_p.Q57del|RUNX2_ENST00000541979.1_In_Frame_Del_p.Q139del|RUNX2_ENST00000352853.5_In_Frame_Del_p.Q139del|RUNX2_ENST00000465038.2_In_Frame_Del_p.Q71del|RUNX2_ENST00000371432.3_In_Frame_Del_p.Q57del NM_001024630.3 NP_001019801.3 Q13950 RUNX2_HUMAN runt-related transcription factor 2 71 Poly-Gln. negative regulation of transcription, DNA-dependent|osteoblast differentiation|positive regulation of transcription, DNA-dependent nucleus ATP binding|DNA binding|protein binding|sequence-specific DNA binding transcription factor activity breast(2)|endometrium(2)|kidney(1)|large_intestine(5)|liver(1)|lung(18)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1) 34 gcagcagcaacagcagcagcagc 0.729 7 154 --- --- --- --- CCDC28A 25901 broad.mit.edu 37 6 139097330 139097330 + Frame_Shift_Del DEL A A - TCGA-F2-A8YN-01A-11D-A377-08 TCGA-F2-A8YN-10A-01D-A37A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3481a872-1f51-4fdd-95ec-c3ad9ffc9040 eacf769d-bf42-4c1a-854a-a966923cf00b g.chr6:139097330delA ENST00000332797.6 + 2 498 c.343delA c.(343-345)aafs p.K116fs NM_015439.2 NP_056254.1 Q8IWP9 CC28A_HUMAN coiled-coil domain containing 28A 116 p.N117fs*5(2) autonomic_ganglia(1)|large_intestine(3)|lung(8)|ovary(1) 13 OV - Ovarian serous cystadenocarcinoma(155;0.000201)|GBM - Glioblastoma multiforme(68;0.000306) TGTCAATGCCAAAAAAAATGC 0.413 12 611 --- --- --- --- PHACTR2 9749 broad.mit.edu 37 6 144086413 144086414 + Frame_Shift_Ins INS - - A TCGA-F2-A8YN-01A-11D-A377-08 TCGA-F2-A8YN-10A-01D-A37A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3481a872-1f51-4fdd-95ec-c3ad9ffc9040 eacf769d-bf42-4c1a-854a-a966923cf00b g.chr6:144086413_144086414insA ENST00000427704.2 + 6 807_808 c.677_678insA c.(676-678)taafs p.*226fs PHACTR2_ENST00000367584.4_Frame_Shift_Ins_p.*214fs|PHACTR2_ENST00000305766.6_Frame_Shift_Ins_p.*146fs|PHACTR2_ENST00000440869.2_Frame_Shift_Ins_p.*237fs|PHACTR2_ENST00000367582.3_Frame_Shift_Ins_p.*157fs NM_001100166.1|NM_014721.2 NP_001093636.1|NP_055536.2 O75167 PHAR2_HUMAN phosphatase and actin regulator 2 226 actin binding|protein phosphatase inhibitor activity NS(3)|breast(1)|cervix(1)|endometrium(3)|large_intestine(4)|lung(13)|ovary(2)|prostate(1)|upper_aerodigestive_tract(2) 30 OV - Ovarian serous cystadenocarcinoma(155;1.58e-05)|GBM - Glioblastoma multiforme(68;0.0386) TCCTCTCATTCAAAAAAAACAA 0.396 7 561 --- --- --- --- HOXA11 3207 broad.mit.edu 37 7 27222461 27222462 + Frame_Shift_Ins INS - - T TCGA-F2-A8YN-01A-11D-A377-08 TCGA-F2-A8YN-10A-01D-A37A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3481a872-1f51-4fdd-95ec-c3ad9ffc9040 eacf769d-bf42-4c1a-854a-a966923cf00b g.chr7:27222461_27222462insT ENST00000006015.3 - 2 966_967 c.895_896insA c.(895-897)taafs p.*299fs NM_005523.5 NP_005514.1 P31270 HXA11_HUMAN homeobox A11 299 branching involved in ureteric bud morphogenesis|cartilage development involved in endochondral bone morphogenesis|developmental growth|dorsal/ventral pattern formation|mesodermal cell fate specification|positive regulation of cell development|positive regulation of chondrocyte differentiation protein-DNA complex|transcription factor complex sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity NS(1)|breast(1)|endometrium(1)|large_intestine(2)|lung(8)|ovary(1)|skin(2) 16 GTCTCTGTTAATTTTTTTTTCC 0.446 T NUP98 CML 8 646 --- --- --- --- ZMIZ2 83637 broad.mit.edu 37 7 44806153 44806157 + Frame_Shift_Del DEL GCCAA GCCAA - TCGA-F2-A8YN-01A-11D-A377-08 TCGA-F2-A8YN-10A-01D-A37A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3481a872-1f51-4fdd-95ec-c3ad9ffc9040 eacf769d-bf42-4c1a-854a-a966923cf00b g.chr7:44806153_44806157delGCCAA ENST00000309315.4 + 18 2669_2673 c.2546_2550delGCCAA c.(2545-2550)gfs p.GQ849fs ZMIZ2_ENST00000463931.1_3'UTR|ZMIZ2_ENST00000433667.1_Frame_Shift_Del_p.GQ817fs|ZMIZ2_ENST00000413916.1_Frame_Shift_Del_p.GQ791fs|ZMIZ2_ENST00000441627.1_Frame_Shift_Del_p.GQ849fs|ZMIZ2_ENST00000265346.7_Frame_Shift_Del_p.GQ823fs NM_031449.3 NP_113637.3 Q8NF64 ZMIZ2_HUMAN zinc finger, MIZ-type containing 2 849 Pro-rich. positive regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent nuclear replication fork ligand-dependent nuclear receptor transcription coactivator activity|protein binding|zinc ion binding breast(3)|endometrium(2)|kidney(3)|large_intestine(6)|lung(10)|ovary(6)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 35 CAGTCCTTGGGCCAAGCGAGCTTAG 0.654 11 389 --- --- --- --- AKAP9 10142 broad.mit.edu 37 7 91671392 91671393 + Frame_Shift_Del DEL AG AG - TCGA-F2-A8YN-01A-11D-A377-08 TCGA-F2-A8YN-10A-01D-A37A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3481a872-1f51-4fdd-95ec-c3ad9ffc9040 eacf769d-bf42-4c1a-854a-a966923cf00b g.chr7:91671392_91671393delAG ENST00000359028.2 + 20 5211_5212 c.4986_4987delAG c.(4984-4989)tcagfs p.SE1662fs AKAP9_ENST00000356239.3_Frame_Shift_Del_p.SE1650fs|AKAP9_ENST00000358100.2_Frame_Shift_Del_p.SE1662fs Q99996 AKAP9_HUMAN A kinase (PRKA) anchor protein 9 1662 G2/M transition of mitotic cell cycle|signal transduction|synaptic transmission|transport centrosome|cytosol|Golgi apparatus receptor binding NS(1)|autonomic_ganglia(2)|breast(14)|central_nervous_system(3)|cervix(1)|endometrium(13)|kidney(12)|large_intestine(35)|lung(49)|ovary(8)|prostate(6)|skin(8)|stomach(1)|urinary_tract(2) 155 all_cancers(62;2.46e-09)|all_epithelial(64;4.42e-08)|Breast(17;0.00206)|all_lung(186;0.185)|all_hematologic(106;0.215)|Lung NSC(181;0.249) STAD - Stomach adenocarcinoma(171;6.16e-05)|Lung(22;0.123)|LUSC - Lung squamous cell carcinoma(200;0.225) ACCTGGTTTCAGAGAGAGAGAG 0.411 T BRAF papillary thyroid 13 411 --- --- --- --- LMTK2 22853 broad.mit.edu 37 7 97820131 97820132 + Frame_Shift_Del DEL AG AG - TCGA-F2-A8YN-01A-11D-A377-08 TCGA-F2-A8YN-10A-01D-A37A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3481a872-1f51-4fdd-95ec-c3ad9ffc9040 eacf769d-bf42-4c1a-854a-a966923cf00b g.chr7:97820131_97820132delAG ENST00000297293.5 + 10 1383_1384 c.1090_1091delAG c.(1090-1092)afs p.R364fs NM_014916.3 NP_055731.2 Q8IWU2 LMTK2_HUMAN lemur tyrosine kinase 2 364 Protein kinase. early endosome to late endosome transport|endocytic recycling|peptidyl-serine phosphorylation|peptidyl-threonine phosphorylation|protein autophosphorylation|receptor recycling|transferrin transport early endosome|Golgi apparatus|integral to membrane|perinuclear region of cytoplasm|recycling endosome ATP binding|myosin VI binding|protein phosphatase inhibitor activity|protein serine/threonine kinase activity|protein tyrosine kinase activity NS(2)|breast(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(13)|lung(25)|ovary(1)|pancreas(2)|skin(2)|stomach(3) 59 all_cancers(62;3.23e-09)|all_epithelial(64;7.65e-10)|Lung NSC(181;0.00902)|all_lung(186;0.0104)|Esophageal squamous(72;0.0125) CCAAGTCATTAGAGAGAGAGAC 0.495 7 1179 --- --- --- --- SRRT 51593 broad.mit.edu 37 7 100479332 100479332 + Frame_Shift_Del DEL G G - TCGA-F2-A8YN-01A-11D-A377-08 TCGA-F2-A8YN-10A-01D-A37A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3481a872-1f51-4fdd-95ec-c3ad9ffc9040 eacf769d-bf42-4c1a-854a-a966923cf00b g.chr7:100479332delG ENST00000388793.4 + 4 524 c.304delG c.(304-306)ggfs p.G106fs SRRT_ENST00000347433.4_Frame_Shift_Del_p.G106fs|SRRT_ENST00000432932.1_Frame_Shift_Del_p.G106fs|SRRT_ENST00000457580.2_Frame_Shift_Del_p.G106fs NM_001128852.1|NM_015908.5 NP_001122324.1|NP_056992.4 Q9BXP5 SRRT_HUMAN serrate RNA effector molecule homolog (Arabidopsis) 106 G -> GG (in Ref. 3; CAB46374). cell proliferation|primary miRNA processing|response to arsenic-containing substance cytoplasm|nucleoplasm protein binding p.G104fs*45(1) breast(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|lung(5)|ovary(3)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1) 40 GCCCTATGCTGGGGGGGGTGG 0.607 7 207 --- --- --- --- WNT2 7472 broad.mit.edu 37 7 116955171 116955175 + Frame_Shift_Del DEL TCCTT TCCTT - TCGA-F2-A8YN-01A-11D-A377-08 TCGA-F2-A8YN-10A-01D-A37A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3481a872-1f51-4fdd-95ec-c3ad9ffc9040 eacf769d-bf42-4c1a-854a-a966923cf00b g.chr7:116955171_116955175delTCCTT ENST00000265441.3 - 3 837_841 c.538_542delAAGGA c.(538-543)tfs p.KD180fs AC002465.2_ENST00000436097.1_RNA NM_003391.2 NP_003382.1 P09544 WNT2_HUMAN wingless-type MMTV integration site family member 2 180 atrial cardiac muscle tissue morphogenesis|canonical Wnt receptor signaling pathway|cardiac epithelial to mesenchymal transition|cellular response to retinoic acid|cellular response to transforming growth factor beta stimulus|dorsal/ventral axis specification|iris morphogenesis|labyrinthine layer blood vessel development|lens development in camera-type eye|lung induction|mammary gland epithelium development|neuron differentiation|positive regulation of canonical Wnt receptor signaling pathway|positive regulation of cardiac muscle cell proliferation|positive regulation of epithelial cell proliferation involved in lung morphogenesis|positive regulation of fibroblast proliferation|positive regulation of mesenchymal cell proliferation|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of transcription from RNA polymerase II promoter|Wnt receptor signaling pathway, calcium modulating pathway cytoplasm|extracellular space|proteinaceous extracellular matrix cytokine activity|frizzled binding|frizzled-2 binding|signal transducer activity breast(2)|central_nervous_system(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(2)|liver(1)|lung(13)|ovary(3)|prostate(1)|skin(2) 31 all_epithelial(6;2.24e-06)|Lung NSC(10;0.000936)|all_lung(10;0.00109) STAD - Stomach adenocarcinoma(10;0.000512) LUSC - Lung squamous cell carcinoma(290;0.133) GGCTCTGGCAtcctttcctttcctt 0.463 8 653 --- --- --- --- CNOT4 4850 broad.mit.edu 37 7 135047688 135047688 + Frame_Shift_Del DEL G G - TCGA-F2-A8YN-01A-11D-A377-08 TCGA-F2-A8YN-10A-01D-A37A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3481a872-1f51-4fdd-95ec-c3ad9ffc9040 eacf769d-bf42-4c1a-854a-a966923cf00b g.chr7:135047688delG ENST00000541284.1 - 12 2421 c.2091delC c.(2089-2091)ccfs p.P697fs CNOT4_ENST00000361528.4_Frame_Shift_Del_p.P623fs|CNOT4_ENST00000423368.2_Frame_Shift_Del_p.P626fs|CNOT4_ENST00000451834.1_Frame_Shift_Del_p.P694fs NM_001190849.1|NM_001190850.1 NP_001177778.1|NP_001177779.1 O95628 CNOT4_HUMAN CCR4-NOT transcription complex, subunit 4 366 nuclear-transcribed mRNA poly(A) tail shortening|protein autoubiquitination|regulation of transcription, DNA-dependent|transcription, DNA-dependent cytosol|nucleus nucleotide binding|protein binding|RNA binding|ubiquitin-protein ligase activity|zinc ion binding autonomic_ganglia(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(10)|prostate(1)|skin(1) 22 GGGTTTTGCTGGGGGGTCTGA 0.532 7 1691 --- --- --- --- C7orf55-LUC7L2 0 broad.mit.edu 37 7 139094365 139094366 + Frame_Shift_Del DEL AG AG - TCGA-F2-A8YN-01A-11D-A377-08 TCGA-F2-A8YN-10A-01D-A37A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3481a872-1f51-4fdd-95ec-c3ad9ffc9040 eacf769d-bf42-4c1a-854a-a966923cf00b g.chr7:139094365_139094366delAG ENST00000354926.4 + 7 1098_1099 c.744_745delAG c.(742-747)gaagfs p.EE248fs LUC7L2_ENST00000541515.3_Frame_Shift_Del_p.EE314fs|C7orf55-LUC7L2_ENST00000541170.3_Frame_Shift_Del_p.EE245fs|C7orf55-LUC7L2_ENST00000263545.6_Frame_Shift_Del_p.EE247fs NM_016019.3 NP_057103.2 AACGAAGAGAAGAGAGAGAGAG 0.391 7 104 --- --- --- --- TRBV6-8 0 broad.mit.edu 37 7 142124496 142124497 + RNA INS - - G rs72463875 TCGA-F2-A8YN-01A-11D-A377-08 TCGA-F2-A8YN-10A-01D-A37A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3481a872-1f51-4fdd-95ec-c3ad9ffc9040 eacf769d-bf42-4c1a-854a-a966923cf00b g.chr7:142124496_142124497insG ENST00000390376.2 - 0 49 AATCCACGCAAGGGCCCTGCCC 0.614 7 623 --- --- --- --- PRSS3P2 0 broad.mit.edu 37 7 142479817 142479817 + RNA DEL G G - TCGA-F2-A8YN-01A-11D-A377-08 TCGA-F2-A8YN-10A-01D-A37A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3481a872-1f51-4fdd-95ec-c3ad9ffc9040 eacf769d-bf42-4c1a-854a-a966923cf00b g.chr7:142479817delG ENST00000603901.1 + 0 40 NR_001296.3 TGCTTGTTAAGGATTTCTAAC 0.557 15 275 --- --- --- --- RP11-981G7.2 0 broad.mit.edu 37 8 10335889 10335903 + RNA DEL GGCTGCAGTGGTTGT GGCTGCAGTGGTTGT - rs55641852 TCGA-F2-A8YN-01A-11D-A377-08 TCGA-F2-A8YN-10A-01D-A37A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3481a872-1f51-4fdd-95ec-c3ad9ffc9040 eacf769d-bf42-4c1a-854a-a966923cf00b g.chr8:10335889_10335903delGGCTGCAGTGGTTGT ENST00000517732.1 + 0 223 RP11-981G7.3_ENST00000520494.1_lincRNA GTGGTTGTCAGGCTGCAGTGGTTGTGGCTGCAGTG 0.586 14 8 --- --- --- --- FAM66D 0 broad.mit.edu 37 8 11994626 11994627 + RNA DEL GT GT - rs138516564 by1000genomes TCGA-F2-A8YN-01A-11D-A377-08 TCGA-F2-A8YN-10A-01D-A37A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3481a872-1f51-4fdd-95ec-c3ad9ffc9040 eacf769d-bf42-4c1a-854a-a966923cf00b g.chr8:11994626_11994627delGT ENST00000434078.2 + 0 608 NR_027425.1 gtatttgtgcgtgtgtgtgtgt 0.510 12 168 --- --- --- --- TOX 9760 broad.mit.edu 37 8 59750796 59750798 + In_Frame_Del DEL CTT CTT - TCGA-F2-A8YN-01A-11D-A377-08 TCGA-F2-A8YN-10A-01D-A37A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3481a872-1f51-4fdd-95ec-c3ad9ffc9040 eacf769d-bf42-4c1a-854a-a966923cf00b g.chr8:59750796_59750798delCTT ENST00000361421.1 - 5 986_988 c.766_768delAAG c.(766-768)del p.K256del NM_014729.2 NP_055544.1 O94900 TOX_HUMAN thymocyte selection-associated high mobility group box 256 nucleus DNA binding endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(11)|lung(13)|prostate(1)|skin(2)|stomach(1) 33 all_cancers(86;0.165)|Myeloproliferative disorder(644;0.00452)|all_lung(136;0.036)|Lung NSC(129;0.0464)|all_epithelial(80;0.0607) CATTGGGATCCTTCTTCTTCTTC 0.453 13 686 --- --- --- --- ASPH 444 broad.mit.edu 37 8 62588724 62588726 + In_Frame_Del DEL TTC TTC - TCGA-F2-A8YN-01A-11D-A377-08 TCGA-F2-A8YN-10A-01D-A37A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3481a872-1f51-4fdd-95ec-c3ad9ffc9040 eacf769d-bf42-4c1a-854a-a966923cf00b g.chr8:62588724_62588726delTTC ENST00000379449.6 - 5 694_696 c.520_522delGAA c.(520-522)del p.E174del ASPH_ENST00000517856.1_Intron|ASPH_ENST00000445642.3_Intron|ASPH_ENST00000379454.4_Intron|ASPH_ENST00000517847.2_Intron|ASPH_ENST00000541428.1_Intron|ASPH_ENST00000522603.1_Intron|ASPH_ENST00000389204.4_Intron|ASPH_ENST00000522835.1_Intron|ASPH_ENST00000517903.1_Intron|ASPH_ENST00000517661.1_In_Frame_Del_p.E145del|ASPH_ENST00000518068.1_Intron|ASPH_ENST00000356457.5_Intron NM_001164756.1 NP_001158228.1 Q12797 ASPH_HUMAN aspartate beta-hydroxylase 0 Glu-rich. muscle contraction integral to endoplasmic reticulum membrane calcium ion binding|electron carrier activity|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|peptide-aspartate beta-dioxygenase activity|structural constituent of muscle breast(1)|cervix(1)|endometrium(5)|large_intestine(5)|lung(16)|ovary(4)|prostate(1)|skin(1)|upper_aerodigestive_tract(1) 35 Lung SC(2;0.153) Lung NSC(129;0.0358)|all_lung(136;0.0654)|all_epithelial(80;0.101) L-Aspartic Acid(DB00128)|Succinic acid(DB00139) CGGTTTCGCTTTCTTCTTCTTCT 0.369 7 370 --- --- --- --- SULF1 23213 broad.mit.edu 37 8 70514026 70514026 + Frame_Shift_Del DEL T T - TCGA-F2-A8YN-01A-11D-A377-08 TCGA-F2-A8YN-10A-01D-A37A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3481a872-1f51-4fdd-95ec-c3ad9ffc9040 eacf769d-bf42-4c1a-854a-a966923cf00b g.chr8:70514026delT ENST00000260128.4 + 10 1740 c.1023delT c.(1021-1023)ccfs p.P341fs SULF1_ENST00000402687.4_Frame_Shift_Del_p.P341fs|SULF1_ENST00000521946.1_3'UTR|SULF1_ENST00000458141.2_Frame_Shift_Del_p.P341fs|SULF1_ENST00000419716.3_Frame_Shift_Del_p.P341fs NM_015170.2 NP_055985.2 Q8IWU6 SULF1_HUMAN sulfatase 1 341 apoptosis|bone development|heparan sulfate proteoglycan metabolic process|kidney development|negative regulation of fibroblast growth factor receptor signaling pathway cell surface|endoplasmic reticulum|extracellular space|Golgi stack arylsulfatase activity|calcium ion binding breast(2)|central_nervous_system(3)|endometrium(5)|kidney(3)|large_intestine(10)|lung(15)|ovary(3)|pancreas(2)|prostate(2)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(1) 52 Breast(64;0.0654) Epithelial(68;0.0124)|OV - Ovarian serous cystadenocarcinoma(28;0.0265)|all cancers(69;0.0534) TTCGTGTGCCTTTTTTTATTC 0.408 7 1157 --- --- --- --- TSNARE1 203062 broad.mit.edu 37 8 143310866 143310868 + In_Frame_Del DEL GAT GAT - rs142964918 TCGA-F2-A8YN-01A-11D-A377-08 TCGA-F2-A8YN-10A-01D-A37A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3481a872-1f51-4fdd-95ec-c3ad9ffc9040 eacf769d-bf42-4c1a-854a-a966923cf00b g.chr8:143310866_143310868delGAT ENST00000524325.1 - 13 1691_1693 c.1516_1518delATC c.(1516-1518)del p.I506del TSNARE1_ENST00000307180.3_In_Frame_Del_p.I507del|TSNARE1_ENST00000520166.1_In_Frame_Del_p.I507del Q96NA8 TSNA1_HUMAN t-SNARE domain containing 1 507 Poly-Ile. vesicle-mediated transport integral to membrane breast(1)|endometrium(3)|kidney(4)|large_intestine(1)|lung(6)|ovary(2)|stomach(2)|urinary_tract(1) 20 all_cancers(97;7.39e-11)|all_epithelial(106;8.98e-09)|Lung NSC(106;0.000167)|all_lung(105;0.000332)|Ovarian(258;0.0315)|Acute lymphoblastic leukemia(118;0.155) CAGAGGTGGCGATGATGATGATG 0.512 10 330 --- --- --- --- CDKN2A 1029 broad.mit.edu 37 9 21974771 21974773 + In_Frame_Del DEL GCC GCC - TCGA-F2-A8YN-01A-11D-A377-08 TCGA-F2-A8YN-10A-01D-A37A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3481a872-1f51-4fdd-95ec-c3ad9ffc9040 eacf769d-bf42-4c1a-854a-a966923cf00b g.chr9:21974771_21974773delGCC ENST00000304494.5 - 1 324_326 c.54_56delGGC c.(52-57)acc>ac p.TA18del CDKN2A_ENST00000579755.1_Intron|CDKN2A_ENST00000498124.1_In_Frame_Del_p.TA18del|CDKN2A_ENST00000579122.1_In_Frame_Del_p.TA18del|CDKN2A_ENST00000494262.1_Intron|RP11-145E5.5_ENST00000404796.2_Intron|CDKN2A_ENST00000498628.2_Intron|CDKN2A_ENST00000530628.2_Intron|CDKN2A_ENST00000361570.3_Intron|CDKN2A_ENST00000446177.1_In_Frame_Del_p.TA18del 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.S12fs*6(1)|p.0(1)|p.A17fs*5(1)|p.S7_A19del(1)|p.S12fs*20(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) CCGGGCCGCGGCCGTGGCCAGCC 0.749 17 HNSCC(2;<9.43e_08)|TSP Lung(5;3.83e-07) 50 104 --- --- --- --- ECM2 1842 broad.mit.edu 37 9 95277146 95277148 + In_Frame_Del DEL TCC TCC - rs137929518 byFrequency TCGA-F2-A8YN-01A-11D-A377-08 TCGA-F2-A8YN-10A-01D-A37A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3481a872-1f51-4fdd-95ec-c3ad9ffc9040 eacf769d-bf42-4c1a-854a-a966923cf00b g.chr9:95277146_95277148delTCC ENST00000344604.5 - 4 968_970 c.819_821delGGA c.(817-822)gat>ga p.ED273del ECM2_ENST00000444490.2_In_Frame_Del_p.ED251del|CENPP_ENST00000375587.3_Intron NM_001197295.1|NM_001393.3 NP_001184224.1|NP_001384.1 O94769 ECM2_HUMAN extracellular matrix protein 2, female organ and adipocyte specific 273 Poly-Glu. cell-matrix adhesion integrin binding breast(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(10)|ovary(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2) 27 ctcctcctcatcctcctcctcct 0.606 8 536 --- --- --- --- PRDM12 59335 broad.mit.edu 37 9 133543701 133543702 + Splice_Site DEL GT GT - TCGA-F2-A8YN-01A-11D-A377-08 TCGA-F2-A8YN-10A-01D-A37A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3481a872-1f51-4fdd-95ec-c3ad9ffc9040 eacf769d-bf42-4c1a-854a-a966923cf00b g.chr9:133543701_133543702delGT ENST00000253008.2 + 3 630 c.e3+1 NM_021619.2 NP_067632.2 Q9H4Q4 PRD12_HUMAN PR domain containing 12 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding kidney(2)|large_intestine(3)|lung(4)|ovary(1)|upper_aerodigestive_tract(1) 11 all_hematologic(13;0.0433)|Acute lymphoblastic leukemia(5;0.0534) OV - Ovarian serous cystadenocarcinoma(145;0.000344) GGCCATTGAGGTGTGTGTGTGT 0.594 12 344 --- --- --- --- PCDH15 65217 broad.mit.edu 37 10 55587198 55587200 + In_Frame_Del DEL GGC GGC - rs12246234 TCGA-F2-A8YN-01A-11D-A377-08 TCGA-F2-A8YN-10A-01D-A37A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3481a872-1f51-4fdd-95ec-c3ad9ffc9040 eacf769d-bf42-4c1a-854a-a966923cf00b g.chr10:55587198_55587200delGGC ENST00000373965.2 - 33 4735_4737 c.4341_4343delGCC c.(4339-4344)cct>cc p.PP1449del PCDH15_ENST00000395430.1_In_Frame_Del_p.PP1439del|PCDH15_ENST00000361849.3_In_Frame_Del_p.PP1442del|PCDH15_ENST00000395433.1_In_Frame_Del_p.PP1417del|PCDH15_ENST00000437009.1_In_Frame_Del_p.PP1371del|PCDH15_ENST00000395442.1_Intron|PCDH15_ENST00000409834.1_In_Frame_Del_p.PP1053del|PCDH15_ENST00000414778.1_In_Frame_Del_p.PP1444del|PCDH15_ENST00000395446.1_Intron|PCDH15_ENST00000463095.1_5'UTR|PCDH15_ENST00000395438.1_In_Frame_Del_p.PP1442del|PCDH15_ENST00000395445.1_In_Frame_Del_p.PP1449del|PCDH15_ENST00000395432.2_In_Frame_Del_p.PP1402del|PCDH15_ENST00000373957.3_Intron|PCDH15_ENST00000320301.6_In_Frame_Del_p.PP1442del|PCDH15_ENST00000395440.1_Intron NM_001142771.1|NM_001142772.1 NP_001136243.1|NP_001136244.1 Q96QU1 PCD15_HUMAN protocadherin-related 15 1442 equilibrioception|homophilic cell adhesion|photoreceptor cell maintenance|sensory perception of sound extracellular region|extracellular space|integral to membrane|photoreceptor outer segment|plasma membrane|stereocilium|synapse calcium ion binding NS(3)|breast(6)|central_nervous_system(1)|cervix(3)|endometrium(18)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(39)|lung(108)|ovary(5)|pancreas(6)|prostate(6)|skin(12)|upper_aerodigestive_tract(12)|urinary_tract(1) 237 Melanoma(3;0.117)|Lung SC(717;0.238) ACCTggcggaggcggcggcggcg 0.571 HNSCC(58;0.16) 8 412 --- --- --- --- ZMIZ1 57178 broad.mit.edu 37 10 81070787 81070789 + In_Frame_Del DEL CTC CTC - TCGA-F2-A8YN-01A-11D-A377-08 TCGA-F2-A8YN-10A-01D-A37A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3481a872-1f51-4fdd-95ec-c3ad9ffc9040 eacf769d-bf42-4c1a-854a-a966923cf00b g.chr10:81070787_81070789delCTC ENST00000334512.5 + 24 3514_3516 c.2942_2944delCTC c.(2941-2946)gct>g p.AP981del ZMIZ1_ENST00000446377.2_Intron NM_020338.3 NP_065071.1 Q9ULJ6 ZMIZ1_HUMAN zinc finger, MIZ-type containing 1 981 Pro-rich. transcription, DNA-dependent cytoplasm|nuclear speck zinc ion binding breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(14)|ovary(2)|prostate(3)|skin(1) 30 all_cancers(46;0.0292)|Breast(12;8.52e-05)|all_epithelial(25;0.000854)|Prostate(51;0.00985) Epithelial(14;0.00256)|all cancers(16;0.00726)|Colorectal(32;0.229) CACAGTGGGGCTCCTCCTCCTCC 0.635 11 571 --- --- --- --- ADD3 120 broad.mit.edu 37 10 111893350 111893350 + Frame_Shift_Del DEL A A - TCGA-F2-A8YN-01A-11D-A377-08 TCGA-F2-A8YN-10A-01D-A37A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3481a872-1f51-4fdd-95ec-c3ad9ffc9040 eacf769d-bf42-4c1a-854a-a966923cf00b g.chr10:111893350delA ENST00000277900.8 + 14 2364 c.1999delA c.(1999-2001)aafs p.K669fs ADD3_ENST00000360162.3_Frame_Shift_Del_p.K669fs|ADD3_ENST00000356080.4_Frame_Shift_Del_p.K701fs NM_001121.2 NP_001112.2 Q9UEY8 ADDG_HUMAN adducin 3 (gamma) 701 cytoskeleton actin binding|calmodulin binding|metal ion binding|structural constituent of cytoskeleton central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(4)|lung(9)|ovary(2)|pancreas(1)|prostate(1)|skin(3) 29 Breast(234;0.052)|Lung NSC(174;0.223) Epithelial(162;4.15e-05)|all cancers(201;0.000587)|BRCA - Breast invasive adenocarcinoma(275;0.0742) GAAAAAGAACAAAAAAAAGGA 0.333 9 620 --- --- --- --- DCLRE1A 9937 broad.mit.edu 37 10 115608957 115608957 + Frame_Shift_Del DEL T T - TCGA-F2-A8YN-01A-11D-A377-08 TCGA-F2-A8YN-10A-01D-A37A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3481a872-1f51-4fdd-95ec-c3ad9ffc9040 eacf769d-bf42-4c1a-854a-a966923cf00b g.chr10:115608957delT ENST00000361384.2 - 2 2824 c.1907delA c.(1906-1908)agfs p.K636fs DCLRE1A_ENST00000369305.1_Frame_Shift_Del_p.K636fs NM_014881.3 NP_055696.3 Q6PJP8 DCR1A_HUMAN DNA cross-link repair 1A 636 cell division|mitosis nucleus hydrolase activity breast(2)|central_nervous_system(1)|cervix(2)|endometrium(2)|kidney(2)|large_intestine(10)|lung(8)|prostate(1)|skin(2)|urinary_tract(1) 31 Epithelial(162;0.0157)|all cancers(201;0.0171) TCTACATCTCTTTTTTTGACG 0.368 Other identified genes with known or suspected DNA repair function 8 888 --- --- --- --- NUP98 4928 broad.mit.edu 37 11 3720389 3720389 + Frame_Shift_Del DEL T T - TCGA-F2-A8YN-01A-11D-A377-08 TCGA-F2-A8YN-10A-01D-A37A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3481a872-1f51-4fdd-95ec-c3ad9ffc9040 eacf769d-bf42-4c1a-854a-a966923cf00b g.chr11:3720389delT ENST00000324932.7 - 25 4352 c.3932delA c.(3931-3933)acfs p.N1311fs NUP98_ENST00000359171.4_Frame_Shift_Del_p.N1311fs|NUP98_ENST00000355260.3_Frame_Shift_Del_p.N1311fs NM_016320.4|NM_139132.3 NP_057404.2|NP_624358.2 P52948 NUP98_HUMAN nucleoporin 98kDa 1328 carbohydrate metabolic process|DNA replication|glucose transport|interspecies interaction between organisms|mitotic prometaphase|mRNA transport|nuclear pore organization|protein import into nucleus, docking|regulation of glucose transport|transmembrane transport|viral reproduction cytosol|nuclear membrane|nucleoplasm|Nup107-160 complex protein binding|structural constituent of nuclear pore|transporter activity NS(1)|autonomic_ganglia(1)|breast(8)|central_nervous_system(1)|endometrium(5)|kidney(5)|large_intestine(13)|liver(1)|lung(15)|ovary(2)|prostate(2)|skin(9)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 66 Medulloblastoma(188;0.0025)|Breast(177;0.00328)|all_neural(188;0.0227) BRCA - Breast invasive adenocarcinoma(625;0.0403)|LUSC - Lung squamous cell carcinoma(625;0.116)|Lung(200;0.199) CACAGGGCTGTTTTTTTGGGT 0.512 T """HOXA9, NSD1, WHSC1L1, DDX10, TOP1, HOXD13, PMX1, HOXA13, HOXD11, HOXA11, RAP1GDS1, HOXC11""" AML 16 1130 --- --- --- --- SPON1 10418 broad.mit.edu 37 11 14276276 14276277 + RNA DEL GT GT - TCGA-F2-A8YN-01A-11D-A377-08 TCGA-F2-A8YN-10A-01D-A37A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3481a872-1f51-4fdd-95ec-c3ad9ffc9040 eacf769d-bf42-4c1a-854a-a966923cf00b g.chr11:14276276_14276277delGT ENST00000310358.7 + 0 1627 Q9HCB6 SPON1_HUMAN spondin 1, extracellular matrix protein cell adhesion extracellular space|proteinaceous extracellular matrix protein binding NS(1)|endometrium(1)|large_intestine(5)|lung(11)|prostate(2)|upper_aerodigestive_tract(1) 21 Epithelial(150;0.00898) GACCTATGAGGTGTGTGTGTGT 0.594 14 324 --- --- --- --- MYBPC3 4607 broad.mit.edu 37 11 47359101 47359103 + In_Frame_Del DEL TCT TCT - TCGA-F2-A8YN-01A-11D-A377-08 TCGA-F2-A8YN-10A-01D-A37A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3481a872-1f51-4fdd-95ec-c3ad9ffc9040 eacf769d-bf42-4c1a-854a-a966923cf00b g.chr11:47359101_47359103delTCT ENST00000399249.2 - 24 2495_2497 c.2441_2443delAGA c.(2440-2445)agc>a p.KS814del MYBPC3_ENST00000545968.1_In_Frame_Del_p.KS814del|MYBPC3_ENST00000256993.4_In_Frame_Del_p.KS813del Q14896 MYPC3_HUMAN myosin binding protein C, cardiac 813 Fibronectin type-III 1. cardiac muscle contraction|cell adhesion|muscle filament sliding|regulation of muscle filament sliding|regulation of striated muscle contraction|ventricular cardiac muscle tissue morphogenesis C zone|cytosol|striated muscle myosin thick filament actin binding|ATPase activator activity|metal ion binding|myosin heavy chain binding|structural constituent of muscle|titin binding breast(2)|central_nervous_system(2)|endometrium(9)|kidney(1)|large_intestine(4)|lung(16)|ovary(3)|prostate(3)|urinary_tract(2) 42 Lung(87;0.176) CACCGGTAGCTCTTCTTCTTCTT 0.601 7 428 --- --- --- --- TMEM132A 54972 broad.mit.edu 37 11 60703785 60703787 + In_Frame_Del DEL GGA GGA - TCGA-F2-A8YN-01A-11D-A377-08 TCGA-F2-A8YN-10A-01D-A37A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3481a872-1f51-4fdd-95ec-c3ad9ffc9040 eacf769d-bf42-4c1a-854a-a966923cf00b g.chr11:60703785_60703787delGGA ENST00000005286.4 + 11 2634_2636 c.2481_2483delGGA c.(2479-2484)agg>ag p.RE827del TMEM132A_ENST00000453848.2_In_Frame_Del_p.RE826del NM_017870.3|NM_178031.2 NP_060340.2|NP_821174.1 Q24JP5 T132A_HUMAN transmembrane protein 132A 826 Binds to HSPA5/GRP78 (By similarity).|Confers cellular localization similar to full-length form (By similarity).|Glu-rich. endoplasmic reticulum membrane|Golgi membrane|integral to membrane breast(1)|cervix(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(14)|ovary(3)|prostate(1)|skin(3) 32 CCGAAGCCAGggaggaggaggag 0.635 7 504 --- --- --- --- IFT46 56912 broad.mit.edu 37 11 118427645 118427647 + In_Frame_Del DEL TCA TCA - TCGA-F2-A8YN-01A-11D-A377-08 TCGA-F2-A8YN-10A-01D-A37A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3481a872-1f51-4fdd-95ec-c3ad9ffc9040 eacf769d-bf42-4c1a-854a-a966923cf00b g.chr11:118427645_118427647delTCA ENST00000264020.2 - 5 689_691 c.312_314delTGA c.(310-315)gaa>ga p.DE104del IFT46_ENST00000264021.3_In_Frame_Del_p.DE53del|IFT46_ENST00000530872.1_In_Frame_Del_p.DE104del NM_020153.3 NP_064538.3 Q9NQC8 IFT46_HUMAN intraflagellar transport 46 homolog (Chlamydomonas) 53 flagellum assembly|intraflagellar transport|protein stabilization microtubule basal body|microtubule-based flagellum|nucleus protein C-terminus binding central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(4) 9 TCCATGCTCTTCATCATCATCAT 0.473 9 1090 --- --- --- --- OR8D4 338662 broad.mit.edu 37 11 123777441 123777442 + Frame_Shift_Ins INS - - T rs79561639 byFrequency TCGA-F2-A8YN-01A-11D-A377-08 TCGA-F2-A8YN-10A-01D-A37A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3481a872-1f51-4fdd-95ec-c3ad9ffc9040 eacf769d-bf42-4c1a-854a-a966923cf00b g.chr11:123777441_123777442insT ENST00000321355.2 + 1 333_334 c.303_304insT c.(301-306)ctttttfs p.LF101fs NM_001005197.1 NP_001005197.1 Q8NGM9 OR8D4_HUMAN olfactory receptor, family 8, subfamily D, member 4 101 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity large_intestine(1)|lung(16)|prostate(1)|skin(2)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1) 25 Breast(109;0.00867)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|all_neural(223;0.22) BRCA - Breast invasive adenocarcinoma(274;4.93e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0409) TGATTCAGCTGTTTTTTTTCTG 0.436 12 1034 --- --- --- --- ITPR2 3709 broad.mit.edu 37 12 26816711 26816712 + Frame_Shift_Del DEL AT AT - TCGA-F2-A8YN-01A-11D-A377-08 TCGA-F2-A8YN-10A-01D-A37A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3481a872-1f51-4fdd-95ec-c3ad9ffc9040 eacf769d-bf42-4c1a-854a-a966923cf00b g.chr12:26816711_26816712delAT ENST00000381340.3 - 15 2035_2036 c.1619_1620delAT c.(1618-1620)gfs p.D540fs NM_002223.2 NP_002214.2 Q14571 ITPR2_HUMAN inositol 1,4,5-trisphosphate receptor, type 2 540 activation of phospholipase C activity|energy reserve metabolic process|nerve growth factor receptor signaling pathway|platelet activation|regulation of insulin secretion|response to hypoxia integral to membrane|plasma membrane enriched fraction|platelet dense tubular network membrane|sarcoplasmic reticulum membrane calcium ion transmembrane transporter activity|inositol 1,4,5-trisphosphate-sensitive calcium-release channel activity ETV6/ITPR2(2) biliary_tract(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(2)|kidney(16)|large_intestine(20)|liver(1)|lung(51)|ovary(5)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(5)|urinary_tract(3) 125 Colorectal(261;0.0847) GATCCCCCAGATCTTCAAGTCT 0.460 450 764 --- --- --- --- ZFC3H1 196441 broad.mit.edu 37 12 72057256 72057258 + In_Frame_Del DEL GCT GCT - TCGA-F2-A8YN-01A-11D-A377-08 TCGA-F2-A8YN-10A-01D-A37A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3481a872-1f51-4fdd-95ec-c3ad9ffc9040 eacf769d-bf42-4c1a-854a-a966923cf00b g.chr12:72057256_72057258delGCT ENST00000378743.3 - 1 491_493 c.133_135delAGC c.(133-135)del p.S45del THAP2_ENST00000308086.2_5'UTR|ZFC3H1_ENST00000548100.1_In_Frame_Del_p.S45del|ZFC3H1_ENST00000552037.1_In_Frame_Del_p.S45del NM_144982.4 NP_659419.3 O60293 ZC3H1_HUMAN zinc finger, C3H1-type containing 45 Ser-rich. RNA processing intracellular metal ion binding NS(1)|breast(2)|central_nervous_system(1)|cervix(2)|endometrium(5)|kidney(4)|large_intestine(12)|lung(31)|ovary(3)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2) 69 GCCCGCCGCCGCTGCTGCTGCTG 0.631 OREG0021993 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 8 769 --- --- --- --- TMEM19 55266 broad.mit.edu 37 12 72094757 72094757 + Frame_Shift_Del DEL T T - TCGA-F2-A8YN-01A-11D-A377-08 TCGA-F2-A8YN-10A-01D-A37A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3481a872-1f51-4fdd-95ec-c3ad9ffc9040 eacf769d-bf42-4c1a-854a-a966923cf00b g.chr12:72094757delT ENST00000266673.5 + 6 1587 c.993delT c.(991-993)ggfs p.G331fs NM_018279.3 NP_060749.2 Q96HH6 TMM19_HUMAN transmembrane protein 19 331 integral to membrane large_intestine(1)|lung(8) 9 Breast(359;0.0889) GBM - Glioblastoma multiforme(134;0.044) CTGCTTGGGGTTTTTGGCCCA 0.433 12 1405 --- --- --- --- TMTC3 160418 broad.mit.edu 37 12 88589292 88589295 + Frame_Shift_Del DEL AACA AACA - TCGA-F2-A8YN-01A-11D-A377-08 TCGA-F2-A8YN-10A-01D-A37A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3481a872-1f51-4fdd-95ec-c3ad9ffc9040 eacf769d-bf42-4c1a-854a-a966923cf00b g.chr12:88589292_88589295delAACA ENST00000266712.6 + 14 2831_2834 c.2611_2614delAACA c.(2611-2616)aafs p.NK871fs NM_181783.3 NP_861448.2 Q6ZXV5 TMTC3_HUMAN transmembrane and tetratricopeptide repeat containing 3 872 integral to membrane binding NS(1)|breast(2)|endometrium(1)|kidney(4)|large_intestine(5)|liver(1)|lung(12)|prostate(4)|skin(1) 31 GTCTAAATCCAACAAACAATTAGG 0.319 11 268 --- --- --- --- CLIP1 6249 broad.mit.edu 37 12 122812690 122812691 + Frame_Shift_Ins INS - - T TCGA-F2-A8YN-01A-11D-A377-08 TCGA-F2-A8YN-10A-01D-A37A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3481a872-1f51-4fdd-95ec-c3ad9ffc9040 eacf769d-bf42-4c1a-854a-a966923cf00b g.chr12:122812690_122812691insT ENST00000358808.2 - 16 3173_3174 c.3019_3020insA c.(3019-3021)ccafs p.P1007fs CLIP1_ENST00000361654.4_Frame_Shift_Ins_p.P896fs|CLIP1_ENST00000545889.1_Frame_Shift_Ins_p.P593fs|CLIP1_ENST00000540338.1_Frame_Shift_Ins_p.P1018fs|CLIP1_ENST00000537178.1_Frame_Shift_Ins_p.P972fs|CLIP1_ENST00000302528.7_Frame_Shift_Ins_p.P1007fs NM_001247997.1|NM_002956.2 NP_001234926.1|NP_002947.1 P30622 CLIP1_HUMAN CAP-GLY domain containing linker protein 1 1018 mitotic prometaphase|positive regulation of microtubule polymerization centrosome|cytosol|endosome|intermediate filament|kinetochore nucleic acid binding|protein homodimerization activity|zinc ion binding NS(1)|breast(5)|endometrium(4)|kidney(5)|large_intestine(16)|liver(1)|lung(21)|ovary(2)|prostate(3)|upper_aerodigestive_tract(1)|urinary_tract(1) 60 all_neural(191;0.0837)|Medulloblastoma(191;0.163) OV - Ovarian serous cystadenocarcinoma(86;1.81e-05)|Epithelial(86;6.85e-05)|BRCA - Breast invasive adenocarcinoma(302;0.226) CTGGTTGTGGCTTGTTTCCATT 0.505 8 518 --- --- --- --- ZIC2 7546 broad.mit.edu 37 13 100635008 100635010 + In_Frame_Del DEL CCA CCA - TCGA-F2-A8YN-01A-11D-A377-08 TCGA-F2-A8YN-10A-01D-A37A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3481a872-1f51-4fdd-95ec-c3ad9ffc9040 eacf769d-bf42-4c1a-854a-a966923cf00b g.chr13:100635008_100635010delCCA ENST00000376335.3 + 1 983_985 c.690_692delCCA c.(688-693)gcc>gc p.AH230del NM_007129.3 NP_009060.2 O95409 ZIC2_HUMAN Zic family member 2 230 Necessary for interaction with MDFIC and transcriptional activation or repression (By similarity).|Poly-Ala. brain development|negative regulation of transcription, DNA-dependent|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of transcription, DNA-dependent|visual perception cytoplasm|nucleus chromatin DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding large_intestine(2)|liver(2)|lung(5)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 13 all_neural(89;0.0837)|Medulloblastoma(90;0.18)|Lung SC(71;0.184) CAGCCGCGGCccaccaccaccac 0.621 7 224 --- --- --- --- KIAA0391 9692 broad.mit.edu 37 14 35592700 35592700 + Frame_Shift_Del DEL T T - TCGA-F2-A8YN-01A-11D-A377-08 TCGA-F2-A8YN-10A-01D-A37A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3481a872-1f51-4fdd-95ec-c3ad9ffc9040 eacf769d-bf42-4c1a-854a-a966923cf00b g.chr14:35592700delT ENST00000557565.1 + 2 630 c.249delT c.(247-249)cafs p.H83fs KIAA0391_ENST00000603544.1_Frame_Shift_Del_p.H83fs|KIAA0391_ENST00000250377.7_5'UTR|KIAA0391_ENST00000321130.10_Frame_Shift_Del_p.H83fs|KIAA0391_ENST00000605870.1_Intron|KIAA0391_ENST00000534898.4_Frame_Shift_Del_p.H83fs|KIAA0391_ENST00000603588.1_Intron|KIAA0391_ENST00000604948.1_Intron O15091 MRRP3_HUMAN KIAA0391 83 tRNA processing mitochondrion central_nervous_system(1)|endometrium(4)|large_intestine(2)|lung(5)|skin(1)|upper_aerodigestive_tract(1) 14 Breast(36;0.0545)|Hepatocellular(127;0.158)|Prostate(35;0.184) Lung(238;2.93e-05)|LUAD - Lung adenocarcinoma(48;3.86e-05)|Epithelial(34;0.0114)|all cancers(34;0.0277) GBM - Glioblastoma multiforme(112;0.0593) CTGTTCCTCATTTTTTTTTAG 0.423 9 323 --- --- --- --- ELMSAN1 91748 broad.mit.edu 37 14 74205926 74205928 + In_Frame_Del DEL CTG CTG - TCGA-F2-A8YN-01A-11D-A377-08 TCGA-F2-A8YN-10A-01D-A37A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3481a872-1f51-4fdd-95ec-c3ad9ffc9040 eacf769d-bf42-4c1a-854a-a966923cf00b g.chr14:74205926_74205928delCTG ENST00000286523.5 - 2 1566_1568 c.784_786delCAG c.(784-786)del p.Q262del ELMSAN1_ENST00000394071.2_In_Frame_Del_p.Q262del NM_194278.3 NP_919254.2 ELM2 and Myb/SANT-like domain containing 1 GTAGGgctgcctgctgctgctgc 0.650 8 101 --- --- --- --- FOXN3 1112 broad.mit.edu 37 14 89629149 89629151 + In_Frame_Del DEL GAG GAG - rs139532153 TCGA-F2-A8YN-01A-11D-A377-08 TCGA-F2-A8YN-10A-01D-A37A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3481a872-1f51-4fdd-95ec-c3ad9ffc9040 eacf769d-bf42-4c1a-854a-a966923cf00b g.chr14:89629149_89629151delGAG ENST00000345097.4 - 7 1196_1198 c.1080_1082delCTC c.(1078-1083)tca>tc p.SS360del FOXN3_ENST00000555353.1_In_Frame_Del_p.SS338del|FOXN3_ENST00000557258.1_In_Frame_Del_p.SS338del|FOXN3_ENST00000261302.5_In_Frame_Del_p.SS360del NM_001085471.1 NP_001078940.1 O00409 FOXN3_HUMAN forkhead box N3 360 DNA damage checkpoint|embryo development|G2 phase of mitotic cell cycle|negative regulation of transcription, DNA-dependent|pattern specification process|regulation of sequence-specific DNA binding transcription factor activity|tissue development transcription factor complex DNA bending activity|double-stranded DNA binding|promoter binding|protein C-terminus 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 endometrium(4)|large_intestine(4)|lung(5)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 18 GTCGTCGGCTGAGGAGGAGGAGG 0.650 8 175 --- --- --- --- DDX24 57062 broad.mit.edu 37 14 94545821 94545823 + In_Frame_Del DEL CCT CCT - TCGA-F2-A8YN-01A-11D-A377-08 TCGA-F2-A8YN-10A-01D-A37A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3481a872-1f51-4fdd-95ec-c3ad9ffc9040 eacf769d-bf42-4c1a-854a-a966923cf00b g.chr14:94545821_94545823delCCT ENST00000330836.5 - 2 397_399 c.266_268delAGG c.(265-270)gga>g p.EG89del DDX24_ENST00000555054.1_In_Frame_Del_p.EG46del|DDX24_ENST00000544005.1_Intron NM_020414.3 NP_065147.1 Q9GZR7 DDX24_HUMAN DEAD (Asp-Glu-Ala-Asp) box helicase 24 89 Poly-Glu. RNA metabolic process cytoplasm|nucleolus ATP binding|ATP-dependent RNA helicase activity|protein binding|RNA binding cervix(3)|endometrium(4)|kidney(4)|large_intestine(5)|lung(3)|ovary(2)|skin(1)|urinary_tract(1) 23 all_cancers(154;0.12) Epithelial(152;0.114)|all cancers(159;0.19)|COAD - Colon adenocarcinoma(157;0.207) CTAGACTTTCCCTCCTCCTCCTC 0.443 10 773 --- --- --- --- NIPA2 81614 broad.mit.edu 37 15 23021237 23021238 + Frame_Shift_Ins INS - - T rs145147241 byFrequency TCGA-F2-A8YN-01A-11D-A377-08 TCGA-F2-A8YN-10A-01D-A37A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3481a872-1f51-4fdd-95ec-c3ad9ffc9040 eacf769d-bf42-4c1a-854a-a966923cf00b g.chr15:23021237_23021238insT ENST00000337451.3 - 4 711_712 c.99_100insA c.(97-102)aagcctfs p.P34fs NIPA2_ENST00000359727.4_Frame_Shift_Ins_p.P34fs|NIPA2_ENST00000398014.2_Frame_Shift_Ins_p.P34fs|NIPA2_ENST00000398013.3_Frame_Shift_Ins_p.P34fs|NIPA2_ENST00000539711.2_Frame_Shift_Ins_p.P34fs NM_030922.6 NP_112184.4 Q8N8Q9 NIPA2_HUMAN non imprinted in Prader-Willi/Angelman syndrome 2 34 early endosome|integral to membrane|plasma membrane endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(2)|prostate(4)|skin(1) 15 all_cancers(20;2.26e-25)|all_epithelial(15;2.1e-22)|Lung NSC(15;3.36e-17)|all_lung(15;1.04e-16)|Breast(32;0.000776)|Colorectal(260;0.0488) all cancers(64;1.48e-06)|Epithelial(43;1.44e-05)|BRCA - Breast invasive adenocarcinoma(123;0.000353) CGAAGGAGGCCCTTTTTTTTCA 0.446 8 487 --- --- --- --- DNM1P47 0 broad.mit.edu 37 15 102299886 102299887 + RNA INS - - G TCGA-F2-A8YN-01A-11D-A377-08 TCGA-F2-A8YN-10A-01D-A37A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3481a872-1f51-4fdd-95ec-c3ad9ffc9040 eacf769d-bf42-4c1a-854a-a966923cf00b g.chr15:102299886_102299887insG ENST00000561463.1 + 0 7932_7933 AACCTGTACTCGCGTCGGAACC 0.589 14 38 --- --- --- --- TVP23A 780776 broad.mit.edu 37 16 10867202 10867203 + Frame_Shift_Ins INS - - A TCGA-F2-A8YN-01A-11D-A377-08 TCGA-F2-A8YN-10A-01D-A37A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3481a872-1f51-4fdd-95ec-c3ad9ffc9040 eacf769d-bf42-4c1a-854a-a966923cf00b g.chr16:10867202_10867203insA ENST00000299866.8 - 5 711_712 c.420_421insT c.(418-423)ttgcacfs p.LH140fs TVP23A_ENST00000572980.1_5'UTR NM_001079512.2 NP_001072980.1 trans-golgi network vesicle protein 23 homolog A (S. cerevisiae) AATAAGGTGCTAAAAAAAAACA 0.446 10 311 --- --- --- --- ATP2A1 487 broad.mit.edu 37 16 28913639 28913640 + Frame_Shift_Ins INS - - C TCGA-F2-A8YN-01A-11D-A377-08 TCGA-F2-A8YN-10A-01D-A37A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3481a872-1f51-4fdd-95ec-c3ad9ffc9040 eacf769d-bf42-4c1a-854a-a966923cf00b g.chr16:28913639_28913640insC ENST00000395503.4 + 17 2640_2641 c.2456_2457insC c.(2455-2457)cccfs p.P819fs ATP2A1_ENST00000536376.1_Frame_Shift_Ins_p.P694fs|ATP2A1_ENST00000357084.3_Frame_Shift_Ins_p.P819fs NM_004320.4 NP_004311.1 O14983 AT2A1_HUMAN ATPase, Ca++ transporting, cardiac muscle, fast twitch 1 819 apoptosis in response to endoplasmic reticulum stress|apoptotic mitochondrial changes|ATP biosynthetic process|calcium ion import|elevation of endoplasmic reticulum calcium ion concentration|elevation of mitochondrial calcium ion concentration|maintenance of mitochondrion location|negative regulation of striated muscle contraction|platelet activation|positive regulation of fast-twitch skeletal muscle fiber contraction|reduction of endoplasmic reticulum calcium ion concentration|relaxation of skeletal muscle|response to endoplasmic reticulum stress endoplasmic reticulum membrane|ER-Golgi intermediate compartment|H zone|I band|microsome|perinuclear region of cytoplasm|platelet dense tubular network membrane|sarcoplasmic reticulum|sarcoplasmic reticulum membrane ATP binding|calcium ion binding|calcium-transporting ATPase activity|protein homodimerization activity breast(1)|central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(7)|lung(10)|ovary(4)|pancreas(1)|prostate(2)|skin(3)|urinary_tract(2) 38 ATCATGGACCGCCCCCCCCGGA 0.658 18 585 --- --- --- --- RP11-23E10.4 0 broad.mit.edu 37 16 33365420 33365420 + RNA DEL A A - TCGA-F2-A8YN-01A-11D-A377-08 TCGA-F2-A8YN-10A-01D-A37A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3481a872-1f51-4fdd-95ec-c3ad9ffc9040 eacf769d-bf42-4c1a-854a-a966923cf00b g.chr16:33365420delA ENST00000568520.1 - 0 249 TACAAACTATAAAAAAACAGA 0.358 10 64 --- --- --- --- COQ9 57017 broad.mit.edu 37 16 57486732 57486734 + In_Frame_Del DEL GAG GAG - rs149029279 TCGA-F2-A8YN-01A-11D-A377-08 TCGA-F2-A8YN-10A-01D-A37A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3481a872-1f51-4fdd-95ec-c3ad9ffc9040 eacf769d-bf42-4c1a-854a-a966923cf00b g.chr16:57486732_57486734delGAG ENST00000262507.6 + 3 331_333 c.262_264delGAG c.(262-264)del p.E91del COQ9_ENST00000567933.1_In_Frame_Del_p.E91del|COQ9_ENST00000567072.1_In_Frame_Del_p.E91del|COQ9_ENST00000567384.1_3'UTR NM_020312.3 NP_064708.1 O75208 COQ9_HUMAN coenzyme Q9 91 ubiquinone biosynthetic process mitochondrion breast(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(3)|lung(6)|prostate(1) 16 CCAGGGCGGCGAGGAGGAGGAGG 0.576 8 653 --- --- --- --- ZFHX3 463 broad.mit.edu 37 16 72822564 72822566 + In_Frame_Del DEL TGC TGC - TCGA-F2-A8YN-01A-11D-A377-08 TCGA-F2-A8YN-10A-01D-A37A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3481a872-1f51-4fdd-95ec-c3ad9ffc9040 eacf769d-bf42-4c1a-854a-a966923cf00b g.chr16:72822564_72822566delTGC ENST00000268489.5 - 10 10281_10283 c.9609_9611delGCA c.(9607-9612)caa>ca p.QQ3203del ZFHX3_ENST00000397992.5_In_Frame_Del_p.QQ2289del NM_006885.3 NP_008816.3 Q15911 ZFHX3_HUMAN zinc finger homeobox 3 3203 Poly-Gln. muscle organ development|negative regulation of myoblast differentiation|negative regulation of transcription from RNA polymerase II promoter|negative regulation of transcription, DNA-dependent|positive regulation of myoblast differentiation transcription factor complex enzyme binding|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|transcription regulatory region DNA binding|zinc ion binding NS(3)|breast(7)|cervix(2)|endometrium(18)|haematopoietic_and_lymphoid_tissue(5)|kidney(8)|large_intestine(22)|liver(1)|lung(46)|ovary(5)|pancreas(1)|prostate(15)|skin(6)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(11) 153 Ovarian(137;0.13) cacctgtggttgctgctgctgct 0.650 15 592 --- --- --- --- TERF2IP 54386 broad.mit.edu 37 16 75690204 75690206 + In_Frame_Del DEL GAA GAA - rs140846731 TCGA-F2-A8YN-01A-11D-A377-08 TCGA-F2-A8YN-10A-01D-A37A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3481a872-1f51-4fdd-95ec-c3ad9ffc9040 eacf769d-bf42-4c1a-854a-a966923cf00b g.chr16:75690204_75690206delGAA ENST00000300086.4 + 3 992_994 c.895_897delGAA c.(895-897)del p.E304del NM_018975.3 NP_061848.2 Q9NYB0 TE2IP_HUMAN telomeric repeat binding factor 2, interacting protein 304 Asp/Glu-rich (acidic). negative regulation of DNA recombination at telomere|negative regulation of telomere maintenance|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of NF-kappaB transcription factor activity|protection from non-homologous end joining at telomere|protein localization to chromosome, telomeric region|regulation of double-strand break repair via homologous recombination|telomere maintenance via telomerase|transcription, DNA-dependent cytoplasm|nuclear telomere cap complex|nucleoplasm DNA binding|protein binding central_nervous_system(1)|endometrium(1)|large_intestine(2)|lung(1) 5 TGATgaggaggaagaagaagaag 0.424 9 361 --- --- --- --- SPIRE2 84501 broad.mit.edu 37 16 89916879 89916880 + In_Frame_Ins INS - - GAG rs146569219 by1000genomes TCGA-F2-A8YN-01A-11D-A377-08 TCGA-F2-A8YN-10A-01D-A37A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3481a872-1f51-4fdd-95ec-c3ad9ffc9040 eacf769d-bf42-4c1a-854a-a966923cf00b g.chr16:89916879_89916880insGAG ENST00000378247.3 + 3 499_500 c.456_457insGAG c.(454-459)ccagga>ccGAGagga p.152_153PG>PRG SPIRE2_ENST00000393062.2_In_Frame_Ins_p.152_153PG>PRG|SPIRE2_ENST00000564878.1_3'UTR NM_032451.1 NP_115827.1 Q8WWL2 SPIR2_HUMAN spire-type actin nucleation factor 2 152 KIND. transport cytoplasm|cytoskeleton actin binding central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(1)|lung(10)|upper_aerodigestive_tract(2)|urinary_tract(1) 21 Lung NSC(15;5.15e-06)|all_lung(18;8.38e-06)|all_hematologic(23;0.0194) BRCA - Breast invasive adenocarcinoma(80;0.0286) ACGGGGGTCCCGAGGAGGAGGA 0.728 22 34 --- --- --- --- TP53 7157 broad.mit.edu 37 17 7578180 7578190 + Frame_Shift_Del DEL AGGCGGCTCAT AGGCGGCTCAT - rs121912666 TCGA-F2-A8YN-01A-11D-A377-08 TCGA-F2-A8YN-10A-01D-A37A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3481a872-1f51-4fdd-95ec-c3ad9ffc9040 eacf769d-bf42-4c1a-854a-a966923cf00b g.chr17:7578180_7578190delAGGCGGCTCAT ENST00000420246.2 - 6 791_801 c.659_669delATGAGCCGCCT c.(658-669)tfs p.YEPP220fs TP53_ENST00000413465.2_Frame_Shift_Del_p.YEPP220fs|TP53_ENST00000455263.2_Frame_Shift_Del_p.YEPP220fs|TP53_ENST00000269305.4_Frame_Shift_Del_p.YEPP220fs|TP53_ENST00000445888.2_Frame_Shift_Del_p.YEPP220fs|TP53_ENST00000574684.1_Intron|TP53_ENST00000359597.4_Frame_Shift_Del_p.YEPP220fs NM_001126114.2|NM_001276696.1 NP_001119586.1|NP_001263625.1 P04637 P53_HUMAN tumor protein p53 220 Interaction with AXIN1 (By similarity).|Interaction with HIPK1 (By similarity).|Required for interaction with FBXO42. Y -> C (in LFS; germline mutation and in sporadic cancers; somatic mutation).|Y -> D (in sporadic cancers; somatic mutation).|Y -> F (in a sporadic cancer; somatic mutation).|Y -> H (in sporadic cancers; somatic mutation).|Y -> N (in sporadic cancers; somatic mutation).|Y -> S (in a brain tumor with no family history; germline mutation and in sporadic cancers; somatic mutation). activation of caspase activity by cytochrome c|base-excision repair|blood coagulation|cell cycle arrest|cell differentiation|cell proliferation|cellular protein localization|cellular response to drug|cellular response to glucose starvation|cellular response to hypoxia|cellular response to ionizing radiation|cellular response to UV|determination of adult lifespan|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|ER overload response|interspecies interaction between organisms|negative regulation of apoptosis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of helicase activity|negative regulation of transcription from RNA polymerase II promoter|nucleotide-excision repair|oxidative stress-induced premature senescence|positive regulation of histone deacetylation|positive regulation of neuron apoptosis|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of reactive oxygen species metabolic process|positive regulation of thymocyte apoptosis|positive regulation of transcription from RNA polymerase II promoter|protein localization|protein tetramerization|Ras protein signal transduction|regulation of mitochondrial membrane permeability|replicative senescence|response to antibiotic|response to gamma radiation|response to X-ray cytoplasm|cytosol|endoplasmic reticulum|insoluble fraction|mitochondrion|nuclear chromatin|nuclear matrix|nucleolus|nucleus|PML body|protein complex|replication fork ATP binding|chaperone binding|chromatin binding|copper ion binding|damaged DNA binding|DNA strand annealing activity|histone acetyltransferase binding|p53 binding|protease binding|protein binding|protein heterodimerization activity|protein kinase binding|protein N-terminus binding|protein phosphatase 2A binding|RNA polymerase II transcription factor binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|transcription repressor activity|ubiquitin protein ligase binding|zinc ion binding p.Y220C(278)|p.Y127C(24)|p.E221*(14)|p.Y220S(12)|p.?(12)|p.0?(8)|p.P222P(5)|p.P222L(5)|p.P223P(4)|p.P223L(4)|p.E128*(3)|p.Y220*(3)|p.P223fs*1(3)|p.E221fs*4(3)|p.P222T(3)|p.E221E(2)|p.E221G(2)|p.E221fs*26(2)|p.P223H(2)|p.E221D(2)|p.P222S(2)|p.E221K(2)|p.P223R(1)|p.P223S(1)|p.P222fs*24(1)|p.P223A(1)|p.P223fs*24(1)|p.Y127S(1)|p.Y220_P223delYEPP(1)|p.P222Q(1)|p.P130fs*1(1)|p.V218_Y220delVPY(1)|p.V216_Y220delVVVPY(1)|p.D208fs*1(1)|p.E221fs*2(1)|p.Y220fs*25(1)|p.V218_E221delVPYE(1)|p.P222A(1)|p.Y220fs*1(1)|p.Y220fs*2(1)|p.V218fs*26(1)|p.E224fs*4(1)|p.E224fs*5(1)|p.V218_E224delVPYEPPE(1)|p.P222fs*25(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) ACCAGACCTCAGGCGGCTCATAGGGCACCAC 0.550 111 """Mis, N, F""" """breast, colorectal, lung, sarcoma, adrenocortical, glioma, multiple other tumour types""" """breast, sarcoma, adrenocortical carcinoma, glioma, multiple other tumour types""" Other conserved DNA damage response genes Osteosarcoma, Familial Clustering of;Li-Fraumeni syndrome;Hereditary Breast-Ovarian Cancer, non-BRCA1/2;Hereditary Adrenocortical Cancer;Endometrial Cancer, Familial Clustering of HNSCC(1;<9.43e-08)|TCGA GBM(1;<1E-08)|TSP Lung(2;<1E-08)|TCGA Ovarian(1;<1.89e-07)|Multiple Myeloma(5;0.019) 18 93 --- --- --- --- CHD3 1107 broad.mit.edu 37 17 7796808 7796809 + Frame_Shift_Ins INS - - C TCGA-F2-A8YN-01A-11D-A377-08 TCGA-F2-A8YN-10A-01D-A37A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3481a872-1f51-4fdd-95ec-c3ad9ffc9040 eacf769d-bf42-4c1a-854a-a966923cf00b g.chr17:7796808_7796809insC ENST00000380358.4 + 5 892_893 c.891_892insC c.(889-894)ggccccfs p.GP297fs CHD3_ENST00000358181.4_Frame_Shift_Ins_p.GP238fs|CHD3_ENST00000330494.7_Frame_Shift_Ins_p.GP238fs NM_001005271.2 NP_001005271.2 Q12873 CHD3_HUMAN chromodomain helicase DNA binding protein 3 238 chromatin modification|regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent microtubule organizing center|NuRD complex ATP binding|ATP-dependent DNA helicase activity|DNA binding|protein binding|zinc ion binding breast(2)|central_nervous_system(1)|cervix(2)|endometrium(11)|kidney(6)|large_intestine(13)|liver(2)|lung(14)|ovary(1)|pancreas(1)|prostate(7)|skin(3)|urinary_tract(2) 65 Prostate(122;0.202) CACCCTCCGGACCCCCCGCCCT 0.639 7 139 --- --- --- --- TRPV2 51393 broad.mit.edu 37 17 16335490 16335492 + In_Frame_Del DEL TGC TGC - TCGA-F2-A8YN-01A-11D-A377-08 TCGA-F2-A8YN-10A-01D-A37A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3481a872-1f51-4fdd-95ec-c3ad9ffc9040 eacf769d-bf42-4c1a-854a-a966923cf00b g.chr17:16335490_16335492delTGC ENST00000338560.7 + 12 2264_2266 c.1865_1867delTGC c.(1864-1869)gtg>g p.VL622del TRPV2_ENST00000583241.1_3'UTR|TRPV2_ENST00000577397.1_In_Frame_Del_p.VL192del NM_016113.4 NP_057197.2 Q9Y5S1 TRPV2_HUMAN transient receptor potential cation channel, subfamily V, member 2 622 sensory perception integral to plasma membrane|melanosome calcium channel activity breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(7)|lung(9)|ovary(1)|pancreas(1)|prostate(2)|stomach(3) 28 UCEC - Uterine corpus endometrioid carcinoma (92;0.0837) CGCGGCATGGTGCTGCTGCTGCT 0.596 9 230 --- --- --- --- BZRAP1 9256 broad.mit.edu 37 17 56386383 56386384 + Frame_Shift_Ins INS - - T TCGA-F2-A8YN-01A-11D-A377-08 TCGA-F2-A8YN-10A-01D-A37A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3481a872-1f51-4fdd-95ec-c3ad9ffc9040 eacf769d-bf42-4c1a-854a-a966923cf00b g.chr17:56386383_56386384insT ENST00000355701.3 - 22 5119_5120 c.4249_4250insA c.(4249-4251)ccgfs p.P1417fs BZRAP1_ENST00000343736.4_Frame_Shift_Ins_p.P1417fs|BZRAP1_ENST00000268893.6_Frame_Shift_Ins_p.P1357fs NM_001261835.1|NM_004758.3 NP_001248764.1|NP_004749.2 O95153 RIMB1_HUMAN benzodiazapine receptor (peripheral) associated protein 1 1417 mitochondrion benzodiazepine receptor binding cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(11)|liver(2)|lung(16)|ovary(1)|prostate(1)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1) 54 Medulloblastoma(34;0.127)|all_neural(34;0.237) CCGCCTGCGGCTTGGGGGCTTC 0.653 200 405 --- --- --- --- AMZ2P1 0 broad.mit.edu 37 17 62968575 62968575 + RNA DEL T T - TCGA-F2-A8YN-01A-11D-A377-08 TCGA-F2-A8YN-10A-01D-A37A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3481a872-1f51-4fdd-95ec-c3ad9ffc9040 eacf769d-bf42-4c1a-854a-a966923cf00b g.chr17:62968575delT ENST00000430983.1 - 0 1593 NR_026903.1 TTGGTTGGAATTTTTTTCCCT 0.333 7 158 --- --- --- --- CBX4 8535 broad.mit.edu 37 17 77808240 77808241 + In_Frame_Ins INS - - GTG rs3833850 TCGA-F2-A8YN-01A-11D-A377-08 TCGA-F2-A8YN-10A-01D-A37A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3481a872-1f51-4fdd-95ec-c3ad9ffc9040 eacf769d-bf42-4c1a-854a-a966923cf00b g.chr17:77808240_77808241insGTG ENST00000269397.4 - 5 1377_1378 c.1200_1201insCAC c.(1198-1203)caccgt>caCACccgt p.400_401HR>HTR NM_003655.2 NP_003646.2 O00257 CBX4_HUMAN chromobox homolog 4 400 His-rich.|Interaction with BMI1. anti-apoptosis|chromatin modification|negative regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent Golgi apparatus|PcG protein complex enzyme binding|transcription corepressor activity breast(1)|cervix(1)|endometrium(1)|large_intestine(1)|lung(7)|ovary(1)|prostate(3)|skin(2)|urinary_tract(1) 18 OV - Ovarian serous cystadenocarcinoma(97;0.0102)|BRCA - Breast invasive adenocarcinoma(99;0.0224) AGGCCGACGGCgtggtggtggt 0.703 9 38 --- --- --- --- FHOD3 80206 broad.mit.edu 37 18 34261459 34261460 + Frame_Shift_Del DEL AG AG - TCGA-F2-A8YN-01A-11D-A377-08 TCGA-F2-A8YN-10A-01D-A37A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3481a872-1f51-4fdd-95ec-c3ad9ffc9040 eacf769d-bf42-4c1a-854a-a966923cf00b g.chr18:34261459_34261460delAG ENST00000257209.4 + 12 1493_1494 c.1371_1372delAG c.(1369-1374)gcagfs p.AE457fs FHOD3_ENST00000359247.4_Frame_Shift_Del_p.AE457fs|FHOD3_ENST00000590592.1_Frame_Shift_Del_p.AE632fs|FHOD3_ENST00000445677.1_Frame_Shift_Del_p.AE419fs|FHOD3_ENST00000591635.1_Intron NM_025135.2 NP_079411.2 Q2V2M9 FHOD3_HUMAN formin homology 2 domain containing 3 457 actin cytoskeleton organization cytoplasm|cytoskeleton actin binding NS(1)|breast(5)|central_nervous_system(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(25)|liver(2)|lung(29)|ovary(3)|prostate(4)|skin(5)|upper_aerodigestive_tract(1) 90 all_epithelial(2;0.0181)|Colorectal(2;0.0195) CACTGGCAGCAGAGAGAGAGAG 0.460 9 230 --- --- --- --- NEDD4L 0 broad.mit.edu 37 18 55992284 55992286 + In_Frame_Del DEL TCC TCC - TCGA-F2-A8YN-01A-11D-A377-08 TCGA-F2-A8YN-10A-01D-A37A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3481a872-1f51-4fdd-95ec-c3ad9ffc9040 eacf769d-bf42-4c1a-854a-a966923cf00b g.chr18:55992284_55992286delTCC ENST00000456986.1 + 9 807_809 c.207_209delTCC c.(205-210)ctt>ct p.LP69del NEDD4L_ENST00000431212.2_In_Frame_Del_p.LP69del|NEDD4L_ENST00000586263.1_In_Frame_Del_p.LP182del|NEDD4L_ENST00000382850.4_In_Frame_Del_p.LP190del|NEDD4L_ENST00000435432.2_In_Frame_Del_p.LP69del|NEDD4L_ENST00000357895.5_In_Frame_Del_p.LP182del|NEDD4L_ENST00000456173.2_In_Frame_Del_p.LP69del|NEDD4L_ENST00000256832.7_In_Frame_Del_p.LP69del|NEDD4L_ENST00000589054.1_Intron|NEDD4L_ENST00000256830.9_In_Frame_Del_p.LP190del|NEDD4L_ENST00000400345.3_In_Frame_Del_p.LP190del|NEDD4L_ENST00000356462.6_In_Frame_Del_p.LP190del NM_001144964.1 NP_001138436.1 Q96PU5 NED4L_HUMAN neural precursor cell expressed, developmentally down-regulated 4-like, E3 ubiquitin protein ligase 190 C2. cellular sodium ion homeostasis|excretion|interspecies interaction between organisms|positive regulation of endocytosis|protein ubiquitination involved in ubiquitin-dependent protein catabolic process|regulation of protein catabolic process|response to metal ion|sodium ion transport|water homeostasis cytoplasm protein binding|sodium channel regulator activity|ubiquitin-protein ligase activity breast(1)|endometrium(7)|kidney(3)|large_intestine(10)|lung(11)|ovary(1)|prostate(4) 37 AAGAGGAACTTCCTCCTCCTCCT 0.498 7 627 --- --- --- --- SERPINB11 89778 broad.mit.edu 37 18 61388270 61388271 + RNA DEL AC AC - TCGA-F2-A8YN-01A-11D-A377-08 TCGA-F2-A8YN-10A-01D-A37A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3481a872-1f51-4fdd-95ec-c3ad9ffc9040 eacf769d-bf42-4c1a-854a-a966923cf00b g.chr18:61388270_61388271delAC ENST00000544088.1 + 0 836 SERPINB11_ENST00000536691.1_RNA|SERPINB11_ENST00000538847.1_RNA|SERPINB11_ENST00000382749.5_RNA NM_080475.2 NP_536723.2 Q96P15 SPB11_HUMAN serpin peptidase inhibitor, clade B (ovalbumin), member 11 (gene/pseudogene) regulation of proteolysis cytoplasm serine-type endopeptidase inhibitor activity breast(1)|cervix(1)|kidney(1)|lung(3) 6 Esophageal squamous(42;0.129) GTGCATGTTAACACACACACAC 0.386 7 41 --- --- --- --- NWD1 284434 broad.mit.edu 37 19 16908642 16908642 + Frame_Shift_Del DEL T T - TCGA-F2-A8YN-01A-11D-A377-08 TCGA-F2-A8YN-10A-01D-A37A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3481a872-1f51-4fdd-95ec-c3ad9ffc9040 eacf769d-bf42-4c1a-854a-a966923cf00b g.chr19:16908642delT ENST00000524140.2 + 16 3822 c.3404delT c.(3403-3405)gtfs p.V1135fs NWD1_ENST00000552788.1_Frame_Shift_Del_p.V1135fs|NWD1_ENST00000339803.6_Frame_Shift_Del_p.V1000fs|NWD1_ENST00000549814.1_Frame_Shift_Del_p.V1135fs|NWD1_ENST00000379808.3_Frame_Shift_Del_p.V1135fs|NWD1_ENST00000523826.1_Frame_Shift_Del_p.V929fs NM_001007525.3 NP_001007526.3 Q149M9 NWD1_HUMAN NACHT and WD repeat domain containing 1 1135 ATP binding NS(3)|breast(2)|cervix(1)|endometrium(8)|large_intestine(17)|lung(18)|ovary(2)|pancreas(3)|prostate(5)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1) 67 GAGACGGCTGTTTTTGGTACT 0.552 7 1581 --- --- --- --- SUGP2 10147 broad.mit.edu 37 19 19136393 19136394 + Frame_Shift_Ins INS - - T TCGA-F2-A8YN-01A-11D-A377-08 TCGA-F2-A8YN-10A-01D-A37A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3481a872-1f51-4fdd-95ec-c3ad9ffc9040 eacf769d-bf42-4c1a-854a-a966923cf00b g.chr19:19136393_19136394insT ENST00000601879.1 - 3 1060_1061 c.763_764insA c.(763-765)accfs p.T255fs SUGP2_ENST00000337018.6_Frame_Shift_Ins_p.T255fs|SUGP2_ENST00000598202.1_5'UTR|SUGP2_ENST00000452918.2_Frame_Shift_Ins_p.T255fs|SUGP2_ENST00000600377.1_Frame_Shift_Ins_p.T269fs|SUGP2_ENST00000456085.2_Intron Q8IX01 SUGP2_HUMAN SURP and G patch domain containing 2 255 mRNA processing|RNA splicing nucleus RNA binding NS(1)|breast(1)|endometrium(8)|kidney(1)|large_intestine(9)|lung(13)|ovary(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1) 43 CACGGTGGGTATTTTTTTTGTG 0.500 8 830 --- --- --- --- CTC-525D6.1 0 broad.mit.edu 37 19 29895789 29895789 + RNA DEL G G - rs34933041 TCGA-F2-A8YN-01A-11D-A377-08 TCGA-F2-A8YN-10A-01D-A37A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3481a872-1f51-4fdd-95ec-c3ad9ffc9040 eacf769d-bf42-4c1a-854a-a966923cf00b g.chr19:29895789delG ENST00000582581.1 - 0 601 NR_040029.1 CTGGGAGGCAGGTCCGGCCTG 0.637 3 3 --- --- --- --- HAMP 57817 broad.mit.edu 37 19 35773520 35773522 + In_Frame_Del DEL CTC CTC - TCGA-F2-A8YN-01A-11D-A377-08 TCGA-F2-A8YN-10A-01D-A37A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3481a872-1f51-4fdd-95ec-c3ad9ffc9040 eacf769d-bf42-4c1a-854a-a966923cf00b g.chr19:35773520_35773522delCTC ENST00000598398.1 + 2 336_338 c.40_42delCTC c.(40-42)del p.L18del HAMP_ENST00000222304.3_In_Frame_Del_p.L18del NM_021175.2 NP_066998.1 P81172 HEPC_HUMAN hepcidin antimicrobial peptide 18 defense response to bacterium|defense response to fungus|immune response|killing of cells of other organism extracellular region hormone activity breast(1)|central_nervous_system(1)|large_intestine(1)|lung(1) 4 all_lung(56;2.37e-08)|Lung NSC(56;3.66e-08)|Esophageal squamous(110;0.162) Epithelial(14;7.4e-20)|OV - Ovarian serous cystadenocarcinoma(14;6.47e-19)|all cancers(14;4.17e-17)|LUSC - Lung squamous cell carcinoma(66;0.0417) TTGCCTCCTGCTCCTCCTCCTCC 0.640 12 735 --- --- --- --- PRX 57716 broad.mit.edu 37 19 40901643 40901644 + Frame_Shift_Ins INS - - G TCGA-F2-A8YN-01A-11D-A377-08 TCGA-F2-A8YN-10A-01D-A37A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3481a872-1f51-4fdd-95ec-c3ad9ffc9040 eacf769d-bf42-4c1a-854a-a966923cf00b g.chr19:40901643_40901644insG ENST00000324001.7 - 7 2885_2886 c.2615_2616insC c.(2614-2616)cgcfs p.R872fs PRX_ENST00000291825.7_3'UTR NM_181882.2 NP_870998.2 Q9BXM0 PRAX_HUMAN periaxin 872 axon ensheathment cytoplasm|nucleus|plasma membrane protein binding breast(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(7)|lung(12)|ovary(2)|prostate(3)|skin(1)|urinary_tract(9) 47 Lung(22;6.24e-05)|LUSC - Lung squamous cell carcinoma(20;0.000384) TTTTAGCGGCTGGGACCTGCCC 0.629 7 383 --- --- --- --- LYPD3 27076 broad.mit.edu 37 19 43969653 43969655 + In_Frame_Del DEL AGC AGC - rs141441894 byFrequency TCGA-F2-A8YN-01A-11D-A377-08 TCGA-F2-A8YN-10A-01D-A37A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3481a872-1f51-4fdd-95ec-c3ad9ffc9040 eacf769d-bf42-4c1a-854a-a966923cf00b g.chr19:43969653_43969655delAGC ENST00000244333.3 - 1 157_159 c.69_71delGCT c.(67-72)ctt>ct p.LL23del NM_014400.2 NP_055215.2 O95274 LYPD3_HUMAN LY6/PLAUR domain containing 3 23 anchored to plasma membrane cervix(1)|endometrium(1)|kidney(2)|large_intestine(3)|lung(1)|pancreas(1)|upper_aerodigestive_tract(2) 11 Prostate(69;0.0153) ACCTCCGCGAAGCAGCAGCAGCA 0.675 13 507 --- --- --- --- TEAD2 8463 broad.mit.edu 37 19 49850472 49850473 + Frame_Shift_Ins INS - - G TCGA-F2-A8YN-01A-11D-A377-08 TCGA-F2-A8YN-10A-01D-A37A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3481a872-1f51-4fdd-95ec-c3ad9ffc9040 eacf769d-bf42-4c1a-854a-a966923cf00b g.chr19:49850472_49850473insG ENST00000377214.4 - 8 1254_1255 c.892_893insC c.(892-894)tgcfs p.C298fs TEAD2_ENST00000601519.1_Frame_Shift_Ins_p.C298fs|TEAD2_ENST00000598810.1_Frame_Shift_Ins_p.C299fs|TEAD2_ENST00000593945.1_Frame_Shift_Ins_p.C299fs|TEAD2_ENST00000539846.1_Frame_Shift_Ins_p.C167fs|TEAD2_ENST00000311227.2_Frame_Shift_Ins_p.C295fs Q15562 TEAD2_HUMAN TEA domain family member 2 295 Transcriptional activation (Potential). hippo signaling cascade DNA binding|protein binding|sequence-specific DNA binding transcription factor activity p.H295fs*12(1) central_nervous_system(2)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(12)|ovary(2)|prostate(1) 29 all_lung(116;7.65e-05)|Lung NSC(112;0.000132)|all_neural(266;0.0506)|Ovarian(192;0.15) OV - Ovarian serous cystadenocarcinoma(262;0.00093)|GBM - Glioblastoma multiforme(486;0.0467) GAAGAAGGCATGGGGGGGGCCA 0.564 7 1008 --- --- --- --- FLT3LG 0 broad.mit.edu 37 19 49978960 49978962 + In_Frame_Del DEL CTG CTG - TCGA-F2-A8YN-01A-11D-A377-08 TCGA-F2-A8YN-10A-01D-A37A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3481a872-1f51-4fdd-95ec-c3ad9ffc9040 eacf769d-bf42-4c1a-854a-a966923cf00b g.chr19:49978960_49978962delCTG ENST00000594009.1 + 2 125_127 c.46_48delCTG c.(46-48)del p.L20del FLT3LG_ENST00000344019.3_In_Frame_Del_p.L20del|FLT3LG_ENST00000600429.1_In_Frame_Del_p.L20del|FLT3LG_ENST00000204637.2_5'UTR|FLT3LG_ENST00000597551.1_In_Frame_Del_p.L20del|FLT3LG_ENST00000596435.1_In_Frame_Del_p.L20del|FLT3LG_ENST00000595815.1_3'UTR|CTD-3148I10.9_ENST00000599536.1_Intron|FLT3LG_ENST00000595510.1_5'UTR NM_001204503.1 NP_001191432.1 P49771 FLT3L_HUMAN fms-related tyrosine kinase 3 ligand 20 positive regulation of cell proliferation|signal transduction extracellular space|integral to membrane|plasma membrane|soluble fraction cytokine activity large_intestine(2)|lung(3)|skin(2)|stomach(1)|upper_aerodigestive_tract(2) 10 all_lung(116;1.62e-07)|Lung NSC(112;8.47e-07)|all_neural(266;0.0381)|Ovarian(192;0.0392) OV - Ovarian serous cystadenocarcinoma(262;0.00154)|GBM - Glioblastoma multiforme(486;0.0246) CTATCTCCTCCTGCTGCTGCTGC 0.621 8 359 --- --- --- --- SIGLEC8 27181 broad.mit.edu 37 19 51961617 51961619 + In_Frame_Del DEL GCA GCA - TCGA-F2-A8YN-01A-11D-A377-08 TCGA-F2-A8YN-10A-01D-A37A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3481a872-1f51-4fdd-95ec-c3ad9ffc9040 eacf769d-bf42-4c1a-854a-a966923cf00b g.chr19:51961617_51961619delGCA ENST00000321424.3 - 1 89_91 c.23_25delTGC c.(22-27)ccc>c p.LP8del SIGLEC8_ENST00000430817.1_In_Frame_Del_p.LP8del|SIGLEC8_ENST00000340550.5_In_Frame_Del_p.LP8del NM_014442.2 NP_055257.2 Q9NYZ4 SIGL8_HUMAN sialic acid binding Ig-like lectin 8 8 cell adhesion integral to membrane sugar binding|transmembrane receptor activity NS(1)|central_nervous_system(3)|endometrium(2)|kidney(4)|large_intestine(11)|liver(3)|lung(15)|ovary(2)|skin(4)|stomach(3)|urinary_tract(2) 50 all_neural(266;0.0199) GBM - Glioblastoma multiforme(134;0.000627)|OV - Ovarian serous cystadenocarcinoma(262;0.00979) CAGagcaggggcagcagcagcag 0.596 10 327 --- --- --- --- LILRB2 0 broad.mit.edu 37 19 54780707 54780709 + In_Frame_Del DEL GAG GAG - TCGA-F2-A8YN-01A-11D-A377-08 TCGA-F2-A8YN-10A-01D-A37A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3481a872-1f51-4fdd-95ec-c3ad9ffc9040 eacf769d-bf42-4c1a-854a-a966923cf00b g.chr19:54780707_54780709delGAG ENST00000391748.1 - 10 1559_1561 c.1432_1434delCTC c.(1432-1434)del p.L478del LILRB2_ENST00000391746.1_In_Frame_Del_p.L479del|LILRB2_ENST00000434421.1_In_Frame_Del_p.L363del|LILRB2_ENST00000391749.4_In_Frame_Del_p.L479del|LILRB2_ENST00000314446.5_In_Frame_Del_p.L478del NM_001278403.1 NP_001265332.1 Q8N423 LIRB2_HUMAN leukocyte immunoglobulin-like receptor, subfamily B (with TM and ITIM domains), member 2 479 cell surface receptor linked signaling pathway|cell-cell signaling|cellular defense response|immune response|regulation of immune response integral to plasma membrane|membrane fraction receptor activity p.L479L(1) breast(2)|endometrium(3)|kidney(1)|large_intestine(4)|lung(30)|prostate(2)|skin(1)|upper_aerodigestive_tract(1) 44 Ovarian(34;0.19) GBM - Glioblastoma multiforme(193;0.105) ggatgaggaagaggaggaggagg 0.611 19 529 --- --- --- --- NLRP9 338321 broad.mit.edu 37 19 56249721 56249722 + Frame_Shift_Ins INS - - A TCGA-F2-A8YN-01A-11D-A377-08 TCGA-F2-A8YN-10A-01D-A37A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3481a872-1f51-4fdd-95ec-c3ad9ffc9040 eacf769d-bf42-4c1a-854a-a966923cf00b g.chr19:56249721_56249722insA ENST00000332836.2 - 1 46_47 c.19_20insT c.(19-21)ggafs p.G7fs NM_176820.2 NP_789790.2 Q7RTR0 NALP9_HUMAN NLR family, pyrin domain containing 9 7 DAPIN. cytoplasm ATP binding NS(2)|breast(5)|cervix(1)|endometrium(7)|kidney(8)|large_intestine(15)|lung(21)|ovary(2)|prostate(3)|skin(7)|urinary_tract(3) 74 Colorectal(82;0.000133)|Ovarian(87;0.133) GBM - Glioblastoma multiforme(193;0.123) GCCAAAATCCGAAAAAAAAGAT 0.396 7 694 --- --- --- --- RP4-777D9.2 0 broad.mit.edu 37 20 21146805 21146805 + RNA DEL G G - TCGA-F2-A8YN-01A-11D-A377-08 TCGA-F2-A8YN-10A-01D-A37A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3481a872-1f51-4fdd-95ec-c3ad9ffc9040 eacf769d-bf42-4c1a-854a-a966923cf00b g.chr20:21146805delG ENST00000591761.1 - 0 5051 PLK1S1_ENST00000457464.1_RNA TTTTTTTTTTGTCCATGAGGC 0.383 10 77 --- --- --- --- CD93 22918 broad.mit.edu 37 20 23065992 23065992 + Frame_Shift_Del DEL C C - TCGA-F2-A8YN-01A-11D-A377-08 TCGA-F2-A8YN-10A-01D-A37A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3481a872-1f51-4fdd-95ec-c3ad9ffc9040 eacf769d-bf42-4c1a-854a-a966923cf00b g.chr20:23065992delC ENST00000246006.4 - 1 985 c.838delG c.(838-840)atfs p.D280fs NM_012072.3 NP_036204.2 Q9NPY3 C1QR1_HUMAN CD93 molecule 280 EGF-like 1. cell-cell adhesion|interspecies interaction between organisms|macrophage activation|phagocytosis plasma membrane calcium ion binding|complement component C1q binding|receptor activity|sugar binding p.D280N(1) NS(2)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(10)|lung(14)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1) 39 Colorectal(13;0.0352)|Lung NSC(19;0.0542)|all_lung(19;0.118) AAGGAGCCATCCCCCCCTTCA 0.627 8 808 --- --- --- --- LPIN3 64900 broad.mit.edu 37 20 39981287 39981287 + Frame_Shift_Del DEL A A - TCGA-F2-A8YN-01A-11D-A377-08 TCGA-F2-A8YN-10A-01D-A37A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3481a872-1f51-4fdd-95ec-c3ad9ffc9040 eacf769d-bf42-4c1a-854a-a966923cf00b g.chr20:39981287delA ENST00000373257.3 + 10 1496 c.1405delA c.(1405-1407)aafs p.K469fs NM_022896.1 NP_075047.1 Q9BQK8 LPIN3_HUMAN lipin 3 469 fatty acid metabolic process nucleus phosphatidate phosphatase activity breast(2)|central_nervous_system(1)|cervix(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|liver(2)|lung(7)|ovary(4)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 31 Myeloproliferative disorder(115;0.000739) GGACCTCACCAAAAACCCCGG 0.562 7 1241 --- --- --- --- MIR155HG 0 broad.mit.edu 37 21 26946317 26946317 + RNA DEL T T - TCGA-F2-A8YN-01A-11D-A377-08 TCGA-F2-A8YN-10A-01D-A37A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3481a872-1f51-4fdd-95ec-c3ad9ffc9040 eacf769d-bf42-4c1a-854a-a966923cf00b g.chr21:26946317delT ENST00000385060.1 + 0 26 NR_030784.1 GTGATAGGGGTTTTTGCCTCC 0.433 8 792 --- --- --- --- TCF20 6942 broad.mit.edu 37 22 42605990 42605992 + In_Frame_Del DEL CTG CTG - TCGA-F2-A8YN-01A-11D-A377-08 TCGA-F2-A8YN-10A-01D-A37A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3481a872-1f51-4fdd-95ec-c3ad9ffc9040 eacf769d-bf42-4c1a-854a-a966923cf00b g.chr22:42605990_42605992delCTG ENST00000359486.3 - 1 5456_5458 c.5320_5322delCAG c.(5320-5322)del p.Q1774del TCF20_ENST00000335626.4_In_Frame_Del_p.Q1774del|TCF20_ENST00000404876.1_In_Frame_Del_p.Q75del NM_005650.1 NP_005641.1 Q9UGU0 TCF20_HUMAN transcription factor 20 (AR1) 1774 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|transcription coactivator activity|zinc ion binding breast(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(7)|large_intestine(13)|lung(22)|ovary(5)|prostate(1)|skin(2)|soft_tissue(1)|upper_aerodigestive_tract(2)|urinary_tract(5) 66 TCTGCTCCTTCTGCTGCTGCTGC 0.601 10 453 --- --- --- --- PHF8 23133 broad.mit.edu 37 X 54011405 54011407 + In_Frame_Del DEL CTC CTC - TCGA-F2-A8YN-01A-11D-A377-08 TCGA-F2-A8YN-10A-01D-A37A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3481a872-1f51-4fdd-95ec-c3ad9ffc9040 eacf769d-bf42-4c1a-854a-a966923cf00b g.chrX:54011405_54011407delCTC ENST00000338154.6 - 18 2887_2889 c.2383_2385delGAG c.(2383-2385)del p.E795del PHF8_ENST00000357988.5_In_Frame_Del_p.E831del|PHF8_ENST00000338946.6_In_Frame_Del_p.E694del|PHF8_ENST00000322659.8_In_Frame_Del_p.E778del NM_015107.2 NP_055922.1 Q9UPP1 PHF8_HUMAN PHD finger protein 8 831 Ser-rich. brain development|G1/S transition of mitotic cell cycle|negative regulation of chromatin silencing at rDNA|positive regulation of transcription from RNA polymerase I promoter|transcription, DNA-dependent nucleolus chromatin binding|histone demethylase activity (H3-K27 specific)|histone demethylase activity (H3-K36 specific)|histone demethylase activity (H3-K9 specific)|histone demethylase activity (H4-K20 specific)|iron ion binding|methylated histone residue binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|zinc ion binding endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(7)|lung(10)|ovary(4)|pancreas(1)|skin(2)|upper_aerodigestive_tract(1) 40 GACTGGCGTTCTCCTCCTCCTCC 0.591 7 341 --- --- --- --- CT45A5 441521 broad.mit.edu 37 X 134947460 134947461 + Frame_Shift_Ins INS - - A TCGA-F2-A8YN-01A-11D-A377-08 TCGA-F2-A8YN-10A-01D-A37A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3481a872-1f51-4fdd-95ec-c3ad9ffc9040 eacf769d-bf42-4c1a-854a-a966923cf00b g.chrX:134947460_134947461insA ENST00000370724.3 - 4 730_731 c.486_487insT c.(484-489)ttaatcfs p.LI162fs CT45A5_ENST00000491480.1_Frame_Shift_Ins_p.LI162fs|CT45A4_ENST00000420087.2_Intron NM_001007551.3|NM_001172288.1 NP_001007552.1|NP_001165759.1 Q6NSH3 CT455_HUMAN cancer/testis antigen family 45, member A5 162 endometrium(1)|large_intestine(2)|lung(6) 9 ATGATGGATTCAAAAAATCGTT 0.401 147 126 --- --- --- --- MAGEC1 9947 broad.mit.edu 37 X 140994639 140994641 + In_Frame_Del DEL CTC CTC - rs144357389 byFrequency TCGA-F2-A8YN-01A-11D-A377-08 TCGA-F2-A8YN-10A-01D-A37A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3481a872-1f51-4fdd-95ec-c3ad9ffc9040 eacf769d-bf42-4c1a-854a-a966923cf00b g.chrX:140994639_140994641delCTC ENST00000285879.4 + 4 1735_1737 c.1449_1451delCTC c.(1447-1452)agc>ag p.SS487del MAGEC1_ENST00000406005.2_Intron NM_005462.4 NP_005453.2 O60732 MAGC1_HUMAN melanoma antigen family C, 1 487 protein binding breast(3)|central_nervous_system(1)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(8)|large_intestine(22)|lung(60)|ovary(1)|pancreas(1)|prostate(1)|skin(7)|stomach(5)|upper_aerodigestive_tract(7)|urinary_tract(1) 127 Acute lymphoblastic leukemia(192;6.56e-05) TTCCTGTGAGCTCCTCCTCCTCC 0.473 HNSCC(15;0.026) 8 782 --- --- --- --- MAGEC1 9947 broad.mit.edu 37 X 140994844 140994846 + In_Frame_Del DEL CCT CCT - TCGA-F2-A8YN-01A-11D-A377-08 TCGA-F2-A8YN-10A-01D-A37A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3481a872-1f51-4fdd-95ec-c3ad9ffc9040 eacf769d-bf42-4c1a-854a-a966923cf00b g.chrX:140994844_140994846delCCT ENST00000285879.4 + 4 1940_1942 c.1654_1656delCCT c.(1654-1656)del p.P553del MAGEC1_ENST00000406005.2_Intron NM_005462.4 NP_005453.2 O60732 MAGC1_HUMAN melanoma antigen family C, 1 553 protein binding breast(3)|central_nervous_system(1)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(8)|large_intestine(22)|lung(60)|ovary(1)|pancreas(1)|prostate(1)|skin(7)|stomach(5)|upper_aerodigestive_tract(7)|urinary_tract(1) 127 Acute lymphoblastic leukemia(192;6.56e-05) TCCTCAGAGCCCTCCTCAGGGGG 0.567 HNSCC(15;0.026) 8 886 --- --- --- --- ZNF185 7739 broad.mit.edu 37 X 152087570 152087572 + In_Frame_Del DEL GAG GAG - TCGA-F2-A8YN-01A-11D-A377-08 TCGA-F2-A8YN-10A-01D-A37A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3481a872-1f51-4fdd-95ec-c3ad9ffc9040 eacf769d-bf42-4c1a-854a-a966923cf00b g.chrX:152087570_152087572delGAG ENST00000535861.1 + 7 523_525 c.475_477delGAG c.(475-477)del p.E165del ZNF185_ENST00000324823.6_In_Frame_Del_p.E30del|ZNF185_ENST00000318504.7_In_Frame_Del_p.E165del|ZNF185_ENST00000449285.2_In_Frame_Del_p.E165del|ZNF185_ENST00000539731.1_In_Frame_Del_p.E165del|ZNF185_ENST00000370268.4_In_Frame_Del_p.E165del|ZNF185_ENST00000318529.8_In_Frame_Del_p.E30del|ZNF185_ENST00000370270.1_In_Frame_Del_p.E25del NM_001178106.1 NP_001171577.1 O15231 ZN185_HUMAN zinc finger protein 185 (LIM domain) 165 Poly-Glu. cytoplasm|cytoskeleton|focal adhesion zinc ion binding NS(1)|endometrium(1)|kidney(2)|large_intestine(2)|lung(3)|ovary(3) 12 Acute lymphoblastic leukemia(192;6.56e-05) AGGGGACACCgaggaggaggagg 0.596 9 92 --- --- --- ---