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 KSR1 8844 broad.mit.edu 37 17 25932772 25932772 + Missense_Mutation SNP C C T TCGA-HW-A5KJ-01A-12D-A27K-08 TCGA-HW-A5KJ-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5cf15542-177a-41a2-ab0f-431ac8f12270 d7a1caca-7dea-4119-969a-6a92db1deb14 g.chr17:25932772C>T ENST00000398988.3 + 16 2027 c.1582C>T c.(1582-1584)Cgg>Tgg p.R528W KSR1_ENST00000268763.6_Missense_Mutation_p.R528W|KSR1_ENST00000509603.2_Missense_Mutation_p.R643W|KSR1_ENST00000319524.6_Missense_Mutation_p.R665W NM_014238.1 NP_055053.1 Q8IVT5 KSR1_HUMAN kinase suppressor of ras 1 663 Ras protein signal transduction cytoplasm|membrane ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity NS(1)|breast(1)|central_nervous_system(1)|endometrium(5)|large_intestine(5)|lung(12)|prostate(2)|urinary_tract(1) 28 Lung NSC(42;0.00836) BRCA - Breast invasive adenocarcinoma(3;0.00122) UCEC - Uterine corpus endometrioid carcinoma (53;0.168) CCGGCAGACGCGGCATGAGAA 0.597000 19 26 0 0 1 0 0 SCN2A 6326 broad.mit.edu 37 2 166245292 166245292 + Missense_Mutation SNP C C A TCGA-HW-A5KJ-01A-12D-A27K-08 TCGA-HW-A5KJ-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5cf15542-177a-41a2-ab0f-431ac8f12270 d7a1caca-7dea-4119-969a-6a92db1deb14 g.chr2:166245292C>A ENST00000357398.3 + 27 5266 c.4976C>A c.(4975-4977)gCg>gAg p.A1659E SCN2A_ENST00000283256.6_Missense_Mutation_p.A1659E|SCN2A_ENST00000375427.2_Missense_Mutation_p.A1659E|SCN2A_ENST00000375437.2_Missense_Mutation_p.A1659E Q99250 SCN2A_HUMAN sodium channel, voltage-gated, type II, alpha subunit 1659 myelination node of Ranvier|voltage-gated sodium channel complex voltage-gated sodium channel activity NS(1)|breast(7)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(27)|liver(2)|lung(49)|ovary(6)|pancreas(1)|prostate(2)|skin(8)|upper_aerodigestive_tract(1)|urinary_tract(2) 118 Lamotrigine(DB00555) TCCCTTCCTGCGTTGTTTAAC 0.493000 49 97 3.39706e-21 3.68014e-21 1 1 0 C11orf82 220042 broad.mit.edu 37 11 82643883 82643883 + Silent SNP A A T TCGA-HW-A5KJ-01A-12D-A27K-08 TCGA-HW-A5KJ-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5cf15542-177a-41a2-ab0f-431ac8f12270 d7a1caca-7dea-4119-969a-6a92db1deb14 g.chr11:82643883A>T ENST00000533655.1 + 6 1715 c.1503A>T c.(1501-1503)ggA>ggT p.G501G C11orf82_ENST00000528759.1_3'UTR|C11orf82_ENST00000430323.2_Silent_p.G501G|C11orf82_ENST00000329143.3_Silent_p.G200G|C11orf82_ENST00000525361.1_Intron NM_145018.3 NP_659455.3 Q8IXT1 NOXIN_HUMAN chromosome 11 open reading frame 82 501 apoptosis|cell cycle arrest cytoplasm|nucleus haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|lung(17)|ovary(3)|prostate(1)|skin(1)|urinary_tract(1) 33 ACTGTAAAGGAAATCTAAGTC 0.368000 17 23 0 0 1 0 0 KLHDC10 23008 broad.mit.edu 37 7 129761996 129761996 + Missense_Mutation SNP A A G TCGA-HW-A5KJ-01A-12D-A27K-08 TCGA-HW-A5KJ-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5cf15542-177a-41a2-ab0f-431ac8f12270 d7a1caca-7dea-4119-969a-6a92db1deb14 g.chr7:129761996A>G ENST00000335420.5 + 5 867 c.733A>G c.(733-735)Aca>Gca p.T245A NM_014997.3 NP_055812.1 Q6PID8 KLD10_HUMAN kelch domain containing 10 245 breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|liver(2)|lung(10)|prostate(1) 17 CAGAGAGTGGACACAACTGAA 0.423000 62 49 0 0 1 0 0 ZNF280A 129025 broad.mit.edu 37 22 22869694 22869694 + Silent SNP C C T rs150360634 TCGA-HW-A5KJ-01A-12D-A27K-08 TCGA-HW-A5KJ-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5cf15542-177a-41a2-ab0f-431ac8f12270 d7a1caca-7dea-4119-969a-6a92db1deb14 g.chr22:22869694C>T ENST00000302097.3 - 2 513 c.261G>A c.(259-261)tcG>tcA p.S87S NM_080740.3 NP_542778.1 P59817 Z280A_HUMAN zinc finger protein 280A 87 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding endometrium(1)|large_intestine(4)|lung(8)|ovary(1)|upper_aerodigestive_tract(3)|urinary_tract(1) 18 all_hematologic(9;0.0135)|Acute lymphoblastic leukemia(84;0.17) all_hematologic(6;1.74e-30)|Acute lymphoblastic leukemia(6;7.75e-22) READ - Rectum adenocarcinoma(21;0.145) TTGCAGGCTGCGACACGTGAG 0.468000 59 97 0 0 1 0 0 MAML3 55534 broad.mit.edu 37 4 140811099 140811099 + Splice_Site SNP C C T TCGA-HW-A5KJ-01A-12D-A27K-08 TCGA-HW-A5KJ-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5cf15542-177a-41a2-ab0f-431ac8f12270 d7a1caca-7dea-4119-969a-6a92db1deb14 g.chr4:140811099C>T ENST00000398940.1 - 1 107 c.108_splice c.e1+1 p.Q36_splice MAML3_ENST00000509479.2_Silent_p.Q497Q|MAML3_ENST00000327122.5_Silent_p.Q341Q 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 4 60 0 0 1 0 0 MS4A12 54860 broad.mit.edu 37 11 60268575 60268575 + Missense_Mutation SNP A A G TCGA-HW-A5KJ-01A-12D-A27K-08 TCGA-HW-A5KJ-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5cf15542-177a-41a2-ab0f-431ac8f12270 d7a1caca-7dea-4119-969a-6a92db1deb14 g.chr11:60268575A>G ENST00000016913.4 + 3 391 c.334A>G c.(334-336)Ata>Gta p.I112V MS4A12_ENST00000537076.1_Intron NM_017716.2 NP_060186.2 Q9NXJ0 M4A12_HUMAN membrane-spanning 4-domains, subfamily A, member 12 112 integral to membrane receptor activity breast(1)|kidney(3)|large_intestine(2)|lung(9)|prostate(2) 17 TTTGTGTTTAATATCCTTCTC 0.373000 9 165 0 0 1 0 0 SDHAP3 0 broad.mit.edu 37 5 1593264 1593264 + RNA SNP C C T rs111700178 by1000genomes TCGA-HW-A5KJ-01A-12D-A27K-08 TCGA-HW-A5KJ-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5cf15542-177a-41a2-ab0f-431ac8f12270 d7a1caca-7dea-4119-969a-6a92db1deb14 g.chr5:1593264C>T ENST00000436493.2 - 0 361 AGGGCACATGCCTGACCAAAG 0.557000 7 45 0 0 1 0 0 CA5A 763 broad.mit.edu 37 16 87938397 87938397 + Missense_Mutation SNP C C T TCGA-HW-A5KJ-01A-12D-A27K-08 TCGA-HW-A5KJ-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5cf15542-177a-41a2-ab0f-431ac8f12270 d7a1caca-7dea-4119-969a-6a92db1deb14 g.chr16:87938397C>T ENST00000309893.2 - 3 519 c.454G>A c.(454-456)Gca>Aca p.A152T NM_001739.1 NP_001730.1 P35218 CAH5A_HUMAN carbonic anhydrase VA, mitochondrial 152 one-carbon metabolic process mitochondrial matrix carbonate dehydratase activity|zinc ion binding large_intestine(4)|lung(8)|ovary(1)|skin(2)|upper_aerodigestive_tract(1) 16 BRCA - Breast invasive adenocarcinoma(80;0.0513) CAAACCTCTGCGGGGTACGCG 0.577000 43 101 0 0 1 0 0 ZNF614 80110 broad.mit.edu 37 19 52519785 52519785 + Missense_Mutation SNP G G A TCGA-HW-A5KJ-01A-12D-A27K-08 TCGA-HW-A5KJ-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5cf15542-177a-41a2-ab0f-431ac8f12270 d7a1caca-7dea-4119-969a-6a92db1deb14 g.chr19:52519785G>A ENST00000270649.6 - 5 1610 c.1066C>T c.(1066-1068)Cgc>Tgc p.R356C ZNF614_ENST00000356322.6_Intron NM_025040.3 NP_079316.2 Q8N883 ZN614_HUMAN zinc finger protein 614 356 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding NS(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(9)|ovary(2)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1) 24 all_neural(266;0.0505) GBM - Glioblastoma multiforme(134;0.00513)|OV - Ovarian serous cystadenocarcinoma(262;0.0177) ACAAGATAGCGCTTCATGGTG 0.428000 11 68 0 0 1 0 0 ADAM11 4185 broad.mit.edu 37 17 42855353 42855353 + Missense_Mutation SNP C C A TCGA-HW-A5KJ-01A-12D-A27K-08 TCGA-HW-A5KJ-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5cf15542-177a-41a2-ab0f-431ac8f12270 d7a1caca-7dea-4119-969a-6a92db1deb14 g.chr17:42855353C>A ENST00000200557.6 + 24 2273 c.2104C>A c.(2104-2106)Cca>Aca p.P702T ADAM11_ENST00000535346.1_Missense_Mutation_p.P502T NM_002390.4 NP_002381.2 O75078 ADA11_HUMAN ADAM metallopeptidase domain 11 702 EGF-like. integrin-mediated signaling pathway|proteolysis integral to membrane|plasma membrane integrin binding|metalloendopeptidase activity|zinc ion binding breast(2)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|liver(2)|lung(15)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 33 Prostate(33;0.0959) CATCTGTCAGCCAGACTGGAC 0.612000 5 287 0.0215528 0.0215528 1 1 0 BAHD1 22893 broad.mit.edu 37 15 40751367 40751367 + Missense_Mutation SNP G G A rs150307966 TCGA-HW-A5KJ-01A-12D-A27K-08 TCGA-HW-A5KJ-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5cf15542-177a-41a2-ab0f-431ac8f12270 d7a1caca-7dea-4119-969a-6a92db1deb14 g.chr15:40751367G>A ENST00000561234.1 + 2 963 c.704G>A c.(703-705)cGc>cAc p.R235H BAHD1_ENST00000416165.1_Missense_Mutation_p.R235H|BAHD1_ENST00000560846.1_Missense_Mutation_p.R235H Q8TBE0 BAHD1_HUMAN bromo adjacent homology domain containing 1 235 heterochromatin formation|negative regulation of transcription, DNA-dependent|transcription, DNA-dependent chromatin silencing complex|chromosome chromatin binding|DNA binding|protein binding NS(1)|endometrium(6)|kidney(3)|large_intestine(3)|lung(10)|pancreas(1)|prostate(2)|skin(1)|urinary_tract(1) 28 all_cancers(109;8.28e-19)|all_epithelial(112;2.64e-15)|Lung NSC(122;5.14e-11)|all_lung(180;1.27e-09)|Melanoma(134;0.0574)|Ovarian(310;0.0822)|Colorectal(260;0.117) GBM - Glioblastoma multiforme(113;3.46e-06)|BRCA - Breast invasive adenocarcinoma(123;0.08) GTAGATGGGCGCTCCACTGAG 0.627000 27 38 0 0 1 0 0 FLG 2312 broad.mit.edu 37 1 152281299 152281299 + Silent SNP G G A TCGA-HW-A5KJ-01A-12D-A27K-08 TCGA-HW-A5KJ-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5cf15542-177a-41a2-ab0f-431ac8f12270 d7a1caca-7dea-4119-969a-6a92db1deb14 g.chr1:152281299G>A ENST00000368799.1 - 3 6098 c.6063C>T c.(6061-6063)ggC>ggT p.G2021G FLG-AS1_ENST00000593011.1_RNA|FLG-AS1_ENST00000420707.1_RNA NM_002016.1 NP_002007.1 P20930 FILA_HUMAN filaggrin 2021 Ser-rich. keratinocyte differentiation cytoplasmic membrane-bounded vesicle|intermediate filament calcium ion binding|structural molecule activity autonomic_ganglia(1)|breast(13)|central_nervous_system(5)|cervix(2)|endometrium(38)|haematopoietic_and_lymphoid_tissue(1)|kidney(16)|large_intestine(57)|lung(211)|ovary(13)|pancreas(1)|prostate(15)|skin(24)|stomach(5)|upper_aerodigestive_tract(10)|urinary_tract(12) 424 Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127) LUSC - Lung squamous cell carcinoma(543;0.206) CATGCCCAATGCCTGAGTGTC 0.547000 Ichthyosis 25 1025 0 0 1 0 0 RP11-417J8.6 0 broad.mit.edu 37 1 142713773 142713773 + RNA SNP C C G TCGA-HW-A5KJ-01A-12D-A27K-08 TCGA-HW-A5KJ-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5cf15542-177a-41a2-ab0f-431ac8f12270 d7a1caca-7dea-4119-969a-6a92db1deb14 g.chr1:142713773C>G ENST00000369381.2 - 0 832 TCTTTTTCCACATTGTCATTT 0.284000 3 57 0 0 1 0 0 SLIT1 6585 broad.mit.edu 37 10 98797514 98797514 + Silent SNP G G A rs141130521 byFrequency TCGA-HW-A5KJ-01A-12D-A27K-08 TCGA-HW-A5KJ-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5cf15542-177a-41a2-ab0f-431ac8f12270 d7a1caca-7dea-4119-969a-6a92db1deb14 g.chr10:98797514G>A ENST00000266058.4 - 22 2552 c.2307C>T c.(2305-2307)gaC>gaT p.D769D SLIT1_ENST00000371070.4_Silent_p.D769D|ARHGAP19-SLIT1_ENST00000453547.2_3'UTR NM_003061.2 NP_003052.2 O75093 SLIT1_HUMAN slit homolog 1 (Drosophila) 769 axon extension involved in axon guidance|forebrain morphogenesis|motor axon guidance|negative chemotaxis|negative regulation of synaptogenesis cytoplasm|extracellular space calcium ion binding|Roundabout binding breast(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(16)|lung(37)|ovary(5)|prostate(4)|skin(4)|stomach(1)|upper_aerodigestive_tract(1) 78 Colorectal(252;0.162) Epithelial(162;2.02e-08)|all cancers(201;1.5e-06) ACTGGTTCCCGTCCAAATAGC 0.597000 OREG0020406 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 20 26 0 0 1 0 0 FRG1B 0 broad.mit.edu 37 20 29625892 29625892 + Missense_Mutation SNP T T C TCGA-HW-A5KJ-01A-12D-A27K-08 TCGA-HW-A5KJ-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5cf15542-177a-41a2-ab0f-431ac8f12270 d7a1caca-7dea-4119-969a-6a92db1deb14 g.chr20:29625892T>C ENST00000278882.3 + 5 516 c.136T>C c.(136-138)Tat>Cat p.Y46H FRG1B_ENST00000358464.4_Missense_Mutation_p.Y46H|FRG1B_ENST00000439954.2_Missense_Mutation_p.Y51H endometrium(10)|kidney(21)|lung(3)|pancreas(1)|prostate(9)|urinary_tract(9) 53 GAAATCTGGCTATGGAAAATA 0.348000 4 110 0 0 1 0 0 SLIT3 6586 broad.mit.edu 37 5 168093480 168093480 + Silent SNP G G A TCGA-HW-A5KJ-01A-12D-A27K-08 TCGA-HW-A5KJ-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5cf15542-177a-41a2-ab0f-431ac8f12270 d7a1caca-7dea-4119-969a-6a92db1deb14 g.chr5:168093480G>A ENST00000519560.1 - 36 4970 c.4551C>T c.(4549-4551)tgC>tgT p.C1517C SLIT3_ENST00000332966.8_Silent_p.C1524C|CTC-558O2.2_ENST00000520041.1_RNA NM_001271946.1|NM_003062.2 NP_001258875.1|NP_003053.1 O75094 SLIT3_HUMAN slit homolog 3 (Drosophila) 1517 CTCK. apoptosis involved in luteolysis|axon extension involved in axon guidance|cellular response to hormone stimulus|negative chemotaxis|negative regulation of cell growth|negative regulation of chemokine-mediated signaling pathway|response to cortisol stimulus|Roundabout signaling pathway extracellular space|mitochondrion calcium ion binding|Roundabout binding endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(15)|liver(2)|lung(48)|ovary(4)|prostate(7)|skin(6)|upper_aerodigestive_tract(3)|urinary_tract(1) 100 Renal(175;0.000159)|Lung NSC(126;0.0174)|all_lung(126;0.0392) Medulloblastoma(196;0.0399)|all_neural(177;0.0966) Kidney(164;7.53e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525) CGAGGCAGCCGCACTCTAAGT 0.627000 11 22 0 0 1 0 0 UNC13A 23025 broad.mit.edu 37 19 17752258 17752258 + Missense_Mutation SNP C C A TCGA-HW-A5KJ-01A-12D-A27K-08 TCGA-HW-A5KJ-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5cf15542-177a-41a2-ab0f-431ac8f12270 d7a1caca-7dea-4119-969a-6a92db1deb14 g.chr19:17752258C>A ENST00000428389.2 - 22 2843 c.2844G>T c.(2842-2844)gaG>gaT p.E948D UNC13A_ENST00000550896.1_Missense_Mutation_p.E858D|UNC13A_ENST00000551649.1_Missense_Mutation_p.E860D|UNC13A_ENST00000552293.1_Missense_Mutation_p.E860D|UNC13A_ENST00000519716.2_Missense_Mutation_p.E860D|UNC13A_ENST00000252773.7_Missense_Mutation_p.E860D Q9UPW8 UN13A_HUMAN unc-13 homolog A (C. elegans) 860 exocytosis|intracellular signal transduction cell junction|cytoplasm|presynaptic membrane metal ion binding breast(2)|cervix(1)|endometrium(6)|kidney(3)|large_intestine(11)|lung(31)|ovary(5)|prostate(2) 61 CGTCCACAATCTCCTGGGCTG 0.567000 30 49 5.77227e-19 6.12568e-19 1 1 0 CHEK2 11200 broad.mit.edu 37 22 29091841 29091841 + Silent SNP G G A rs146546850 byFrequency TCGA-HW-A5KJ-01A-12D-A27K-08 TCGA-HW-A5KJ-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5cf15542-177a-41a2-ab0f-431ac8f12270 d7a1caca-7dea-4119-969a-6a92db1deb14 g.chr22:29091841G>A ENST00000544772.1 - 12 1889 c.453C>T c.(451-453)tcC>tcT p.S151S CHEK2_ENST00000403642.1_Silent_p.S281S|CHEK2_ENST00000405598.1_Silent_p.S372S|CHEK2_ENST00000402731.1_Silent_p.S343S|CHEK2_ENST00000348295.3_Silent_p.S343S|CHEK2_ENST00000382565.1_Intron|CHEK2_ENST00000382580.2_Silent_p.S415S|CHEK2_ENST00000404276.1_Silent_p.S372S|CHEK2_ENST00000382578.1_Silent_p.S281S|CHEK2_ENST00000382566.1_3'UTR|CHEK2_ENST00000328354.6_Silent_p.S372S NM_001257387.1 NP_001244316.1 O96017 CHK2_HUMAN checkpoint kinase 2 372 FHA. cell cycle|DNA damage checkpoint|DNA damage response, signal transduction resulting in induction of apoptosis|replicative senescence PML body ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity p.S372S(8) central_nervous_system(17)|endometrium(2)|kidney(11)|large_intestine(2)|lung(11)|ovary(1)|prostate(4)|stomach(2) 50 CCAAAATCTTGGAGTGCCCAA 0.413000 F breast Direct reversal of damage;Other conserved DNA damage response genes 5 80 0 0 1 0 0 UHRF1BP1L 23074 broad.mit.edu 37 12 100478361 100478361 + Missense_Mutation SNP T T C TCGA-HW-A5KJ-01A-12D-A27K-08 TCGA-HW-A5KJ-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5cf15542-177a-41a2-ab0f-431ac8f12270 d7a1caca-7dea-4119-969a-6a92db1deb14 g.chr12:100478361T>C ENST00000279907.7 - 10 1393 c.1181A>G c.(1180-1182)cAt>cGt p.H394R UHRF1BP1L_ENST00000356828.3_Missense_Mutation_p.H394R|UHRF1BP1L_ENST00000545232.2_Missense_Mutation_p.H44R NM_015054.1 NP_055869.1 A0JNW5 UH1BL_HUMAN UHRF1 binding protein 1-like 394 breast(3)|central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(5)|large_intestine(9)|lung(21)|ovary(3)|skin(1)|upper_aerodigestive_tract(1) 50 CTCAAATTCATGCAATAACTC 0.393000 29 56 0 0 1 0 0 FAM86JP 0 broad.mit.edu 37 3 125647387 125647387 + RNA SNP G G A TCGA-HW-A5KJ-01A-12D-A27K-08 TCGA-HW-A5KJ-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5cf15542-177a-41a2-ab0f-431ac8f12270 d7a1caca-7dea-4119-969a-6a92db1deb14 g.chr3:125647387G>A ENST00000485843.1 + 0 532 NR_024251.1 ACCAGAAACTGTTTCCCTATG 0.502000 5 176 0 0 1 0 0 IDH1 3417 broad.mit.edu 37 2 209113112 209113112 + Missense_Mutation SNP C C T rs121913500 TCGA-HW-A5KJ-01A-12D-A27K-08 TCGA-HW-A5KJ-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5cf15542-177a-41a2-ab0f-431ac8f12270 d7a1caca-7dea-4119-969a-6a92db1deb14 g.chr2:209113112C>T ENST00000415913.1 - 4 776 c.395G>A c.(394-396)cGt>cAt p.R132H IDH1_ENST00000345146.2_Missense_Mutation_p.R132H|IDH1_ENST00000446179.1_Missense_Mutation_p.R132H O75874 IDHC_HUMAN isocitrate dehydrogenase 1 (NADP+), soluble 132 R -> C (in colorectal cancer and glioma samples; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha- ketoglutarate but instead alpha- ketoglutarate is converted to R(-)-2- hydroxyglutarate).|R -> G (in a glioma sample; glioblastoma multiforme; somatic mutation).|R -> H (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate).|R -> L (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate).|R -> S (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate). 2-oxoglutarate metabolic process|cellular lipid metabolic process|glyoxylate cycle|isocitrate metabolic process|NADPH regeneration|tricarboxylic acid cycle cytosol|peroxisomal matrix isocitrate dehydrogenase (NADP+) activity|magnesium ion binding|NAD binding|protein homodimerization activity p.R132H(2774)|p.R132L(59)|p.R132V(1)|p.G131_R132>VL(1) NS(1)|autonomic_ganglia(2)|biliary_tract(24)|bone(237)|central_nervous_system(3764)|endometrium(3)|haematopoietic_and_lymphoid_tissue(794)|kidney(2)|large_intestine(7)|lung(7)|prostate(6)|skin(5)|soft_tissue(12)|thyroid(22)|urinary_tract(1) 4887 Epithelial(149;0.0322)|LUSC - Lung squamous cell carcinoma(261;0.0711)|Lung(261;0.136) ATAAGCATGACGACCTATGAT 0.393000 Mis gliobastoma 36 46 0 0 1 0 0 RP11-417J8.6 0 broad.mit.edu 37 1 142713774 142713774 + RNA SNP A A G TCGA-HW-A5KJ-01A-12D-A27K-08 TCGA-HW-A5KJ-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5cf15542-177a-41a2-ab0f-431ac8f12270 d7a1caca-7dea-4119-969a-6a92db1deb14 g.chr1:142713774A>G ENST00000369381.2 - 0 831 CTTTTTCCACATTGTCATTTT 0.284000 3 57 0 0 1 0 0 DNM1P47 0 broad.mit.edu 37 15 102304896 102304896 + RNA SNP C C G rs145942024 by1000genomes TCGA-HW-A5KJ-01A-12D-A27K-08 TCGA-HW-A5KJ-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5cf15542-177a-41a2-ab0f-431ac8f12270 d7a1caca-7dea-4119-969a-6a92db1deb14 g.chr15:102304896C>G ENST00000561463.1 + 0 12942 GAAGACACTCCTGGAGGAGTC 0.562000 4 27 0 0 1 0 0 SLC36A1 206358 broad.mit.edu 37 5 150867793 150867793 + Missense_Mutation SNP A A G rs140057648 TCGA-HW-A5KJ-01A-12D-A27K-08 TCGA-HW-A5KJ-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5cf15542-177a-41a2-ab0f-431ac8f12270 d7a1caca-7dea-4119-969a-6a92db1deb14 g.chr5:150867793A>G ENST00000243389.3 + 11 1632 c.1409A>G c.(1408-1410)aAt>aGt p.N470S SLC36A1_ENST00000520701.1_Missense_Mutation_p.N470S NM_078483.2 NP_510968.2 Q7Z2H8 S36A1_HUMAN solute carrier family 36 (proton/amino acid symporter), member 1 470 cellular nitrogen compound metabolic process|ion transport endoplasmic reticulum|integral to membrane|lysosomal membrane|plasma membrane amino acid transmembrane transporter activity|symporter activity endometrium(5)|kidney(9)|lung(8)|skin(2)|urinary_tract(1) 25 Medulloblastoma(196;0.091)|all_hematologic(541;0.103)|all_neural(839;0.138) KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101) Glycine(DB00145)|L-Alanine(DB00160) ATCTTCATCAATTCCACCTGT 0.567000 26 43 0 0 1 0 0 HLA-DRB5 3127 broad.mit.edu 37 6 32486344 32486344 + Missense_Mutation SNP T T C rs116408738 by1000genomes TCGA-HW-A5KJ-01A-12D-A27K-08 TCGA-HW-A5KJ-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5cf15542-177a-41a2-ab0f-431ac8f12270 d7a1caca-7dea-4119-969a-6a92db1deb14 g.chr6:32486344T>C ENST00000374975.3 - 4 814 c.752A>G c.(751-753)aAg>aGg p.K251R NM_002125.3 NP_002116.2 Q30154 DRB5_HUMAN major histocompatibility complex, class II, DR beta 5 251 antigen processing and presentation of peptide or polysaccharide antigen via MHC class II|immune response endoplasmic reticulum membrane|Golgi apparatus|integral to membrane|late endosome membrane|lysosomal membrane|MHC class II protein complex NS(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(3)|pancreas(1)|prostate(1)|stomach(2) 10 TTTCTGATTCTTGAAGTAGAT 0.517000 3 35 0 0 1 0 0 NEFL 4747 broad.mit.edu 37 8 24813443 24813443 + RNA SNP C C T TCGA-HW-A5KJ-01A-12D-A27K-08 TCGA-HW-A5KJ-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5cf15542-177a-41a2-ab0f-431ac8f12270 d7a1caca-7dea-4119-969a-6a92db1deb14 g.chr8:24813443C>T ENST00000221169.5 - 0 1181 P07196 NFL_HUMAN neurofilament, light polypeptide anterograde axon cargo transport|axon transport of mitochondrion|neurofilament bundle assembly|retrograde axon cargo transport|synaptic transmission cytosol|neurofilament identical protein binding|protein C-terminus binding|structural constituent of cytoskeleton central_nervous_system(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(5)|ovary(1)|prostate(1)|skin(2) 21 Ovarian(32;0.00965)|Prostate(55;0.157) UCEC - Uterine corpus endometrioid carcinoma (27;0.0197)|Epithelial(17;2.44e-10)|Colorectal(74;0.0108)|COAD - Colon adenocarcinoma(73;0.0375) GGCGCCTTTGCGCGCTTCCAT 0.647000 3 36 0 0 1 0 0 KDM4E 390245 broad.mit.edu 37 11 94759050 94759050 + Missense_Mutation SNP C C T TCGA-HW-A5KJ-01A-12D-A27K-08 TCGA-HW-A5KJ-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5cf15542-177a-41a2-ab0f-431ac8f12270 d7a1caca-7dea-4119-969a-6a92db1deb14 g.chr11:94759050C>T ENST00000450979.2 + 1 629 c.329C>T c.(328-330)cCg>cTg p.P110L NM_001161630.1 NP_001155102.1 B2RXH2 KD4DL_HUMAN lysine (K)-specific demethylase 4E 110 chromatin modification|regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus metal ion binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen breast(1)|endometrium(7)|kidney(1)|lung(3) 12 TATCAGACTCCGCCACACCAG 0.468000 11 7 0 0 1 0 0 CTCFL 140690 broad.mit.edu 37 20 56078504 56078504 + Missense_Mutation SNP C C T rs142170954 byFrequency TCGA-HW-A5KJ-01A-12D-A27K-08 TCGA-HW-A5KJ-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5cf15542-177a-41a2-ab0f-431ac8f12270 d7a1caca-7dea-4119-969a-6a92db1deb14 g.chr20:56078504C>T ENST00000429804.2 - 9 2238 c.1678G>A c.(1678-1680)Gcg>Acg p.A560T CTCFL_ENST00000502686.2_Missense_Mutation_p.A348T|CTCFL_ENST00000371196.2_Missense_Mutation_p.A610T|CTCFL_ENST00000433949.2_Missense_Mutation_p.A610T|CTCFL_ENST00000426658.2_3'UTR|CTCFL_ENST00000423479.2_Missense_Mutation_p.A610T|CTCFL_ENST00000422109.2_3'UTR|CTCFL_ENST00000243914.3_Missense_Mutation_p.A610T NM_001269046.1 NP_001255975.1 Q8NI51 CTCFL_HUMAN CCCTC-binding factor (zinc finger protein)-like 610 cell cycle|DNA methylation involved in gamete generation|histone methylation|positive regulation of transcription, DNA-dependent|regulation of gene expression by genetic imprinting|regulation of histone H3-K4 methylation|transcription, DNA-dependent cytoplasm|nucleus histone binding|sequence-specific DNA binding|transcription regulatory region DNA binding|zinc ion binding NS(1)|breast(1)|cervix(2)|endometrium(6)|kidney(4)|large_intestine(9)|lung(28)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 58 Lung NSC(12;0.00132)|all_lung(29;0.00433)|Melanoma(10;0.242) BRCA - Breast invasive adenocarcinoma(13;3.95e-12)|Epithelial(14;3.41e-08)|all cancers(14;2.09e-07) TCTCCGTTCGCGGCTTCCTTC 0.502000 4 151 0 0 1 0 0 MST1L 0 broad.mit.edu 37 1 17083779 17083779 + RNA SNP G G A TCGA-HW-A5KJ-01A-12D-A27K-08 TCGA-HW-A5KJ-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5cf15542-177a-41a2-ab0f-431ac8f12270 d7a1caca-7dea-4119-969a-6a92db1deb14 g.chr1:17083779G>A ENST00000455405.2 - 0 809 AGAGACACGCGTGAAGACGGC 0.542000 4 32 0 0 1 0 0 LRRC8B 23507 broad.mit.edu 37 1 90049110 90049110 + Missense_Mutation SNP C C T TCGA-HW-A5KJ-01A-12D-A27K-08 TCGA-HW-A5KJ-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5cf15542-177a-41a2-ab0f-431ac8f12270 d7a1caca-7dea-4119-969a-6a92db1deb14 g.chr1:90049110C>T ENST00000330947.2 + 5 1261 c.901C>T c.(901-903)Cgc>Tgc p.R301C LRRC8B_ENST00000439853.1_Missense_Mutation_p.R301C|RP5-1007M22.2_ENST00000443562.1_RNA|LRRC8B_ENST00000358200.4_Missense_Mutation_p.R301C NM_001134476.1 NP_001127948.1 Q6P9F7 LRC8B_HUMAN leucine rich repeat containing 8 family, member B 301 integral to membrane breast(1)|central_nervous_system(1)|endometrium(6)|kidney(5)|large_intestine(2)|lung(5)|ovary(2)|prostate(2)|skin(1)|urinary_tract(1) 26 all_lung(203;0.17) all cancers(265;0.00515)|Epithelial(280;0.0241) AGGATATAAGCGCTACCAGTG 0.383000 49 30 0 0 1 0 0 ERG 2078 broad.mit.edu 37 21 39774503 39774503 + Missense_Mutation SNP G G A TCGA-HW-A5KJ-01A-12D-A27K-08 TCGA-HW-A5KJ-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5cf15542-177a-41a2-ab0f-431ac8f12270 d7a1caca-7dea-4119-969a-6a92db1deb14 g.chr21:39774503G>A ENST00000442448.1 - 7 941 c.670C>T c.(670-672)Cgg>Tgg p.R224W ERG_ENST00000398910.1_Missense_Mutation_p.R224W|ERG_ENST00000288319.7_Missense_Mutation_p.R217W|ERG_ENST00000398911.1_Missense_Mutation_p.R224W|ERG_ENST00000398919.2_Missense_Mutation_p.R224W|ERG_ENST00000398907.1_Missense_Mutation_p.R217W|ERG_ENST00000417133.2_Missense_Mutation_p.R224W|ERG_ENST00000398897.1_Missense_Mutation_p.R125W|ERG_ENST00000453032.2_Missense_Mutation_p.R125W|ERG_ENST00000398905.1_Missense_Mutation_p.R217W|ERG_ENST00000429727.2_Intron NM_004449.4 NP_004440.1 P11308 ERG_HUMAN v-ets avian erythroblastosis virus E26 oncogene homolog 224 cell proliferation|multicellular organismal development|protein phosphorylation cytoplasm|nucleus|ribonucleoprotein complex protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|signal transducer activity EWSR1/ERG(178)|NDRG1/ERG(5)|TMPRSS2/ERG(3582)|FUS/ERG(167)|SLC45A3/ERG(50) lung(2)|ovary(1)|skin(1) 4 Prostate(19;3.6e-06) TGCATTAACCGTGGAGAGTTT 0.438000 T """EWSR1, TMPRSS2, ELF4, FUS, HERPUD1, NDRG1""" """Ewing sarcoma, prostate, AML""" 12 36 0 0 1 0 0 CHEK2 11200 broad.mit.edu 37 22 29091840 29091840 + Missense_Mutation SNP T T C rs142470496 byFrequency TCGA-HW-A5KJ-01A-12D-A27K-08 TCGA-HW-A5KJ-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5cf15542-177a-41a2-ab0f-431ac8f12270 d7a1caca-7dea-4119-969a-6a92db1deb14 g.chr22:29091840T>C ENST00000544772.1 - 12 1890 c.454A>G c.(454-456)Aag>Gag p.K152E CHEK2_ENST00000403642.1_Missense_Mutation_p.K282E|CHEK2_ENST00000405598.1_Missense_Mutation_p.K373E|CHEK2_ENST00000402731.1_Missense_Mutation_p.K344E|CHEK2_ENST00000348295.3_Missense_Mutation_p.K344E|CHEK2_ENST00000382565.1_Intron|CHEK2_ENST00000382580.2_Missense_Mutation_p.K416E|CHEK2_ENST00000404276.1_Missense_Mutation_p.K373E|CHEK2_ENST00000382578.1_Missense_Mutation_p.K282E|CHEK2_ENST00000382566.1_3'UTR|CHEK2_ENST00000328354.6_Missense_Mutation_p.K373E NM_001257387.1 NP_001244316.1 O96017 CHK2_HUMAN checkpoint kinase 2 373 FHA. cell cycle|DNA damage checkpoint|DNA damage response, signal transduction resulting in induction of apoptosis|replicative senescence PML body ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity p.K373E(9) central_nervous_system(17)|endometrium(2)|kidney(11)|large_intestine(2)|lung(11)|ovary(1)|prostate(4)|stomach(2) 50 CCCAAAATCTTGGAGTGCCCA 0.418000 F breast Direct reversal of damage;Other conserved DNA damage response genes 5 80 0 0 1 0 0 SDHAP3 0 broad.mit.edu 37 5 1593261 1593261 + RNA SNP A A T TCGA-HW-A5KJ-01A-12D-A27K-08 TCGA-HW-A5KJ-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5cf15542-177a-41a2-ab0f-431ac8f12270 d7a1caca-7dea-4119-969a-6a92db1deb14 g.chr5:1593261A>T ENST00000436493.2 - 0 364 CTCAGGGCACATGCCTGACCA 0.542000 7 47 0 0 1 0 0 ZNRD1-AS1 0 broad.mit.edu 37 6 29977327 29977327 + RNA SNP T T C rs143365191 by1000genomes TCGA-HW-A5KJ-01A-12D-A27K-08 TCGA-HW-A5KJ-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5cf15542-177a-41a2-ab0f-431ac8f12270 d7a1caca-7dea-4119-969a-6a92db1deb14 g.chr6:29977327T>C ENST00000376797.3 - 0 731 ZNRD1-AS1_ENST00000448093.1_RNA|ZNRD1-AS1_ENST00000420251.1_RNA|ZNRD1-AS1_ENST00000425604.1_RNA|HLA-J_ENST00000462773.1_RNA GACAGCTGCCTTGTGTGGGAC 0.438000 4 57 0 0 1 0 0 RGPD8 727851 broad.mit.edu 37 2 113127775 113127775 + Missense_Mutation SNP G G C TCGA-HW-A5KJ-01A-12D-A27K-08 TCGA-HW-A5KJ-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5cf15542-177a-41a2-ab0f-431ac8f12270 d7a1caca-7dea-4119-969a-6a92db1deb14 g.chr2:113127775G>C ENST00000302558.3 - 23 5469 c.5278C>G c.(5278-5280)Cct>Gct p.P1760A RGPD8_ENST00000409750.1_Missense_Mutation_p.P1620A NM_001164463.1 NP_001157935.1 RANBP2-like and GRIP domain containing 8 p.P1760A(12) endometrium(4)|kidney(1)|lung(1)|prostate(3)|urinary_tract(1) 10 GAACGGGAAGGATTTTCTTCC 0.308000 3 25 0 0 1 0 0 RCE1 9986 broad.mit.edu 37 11 66610961 66610961 + Missense_Mutation SNP T T C TCGA-HW-A5KJ-01A-12D-A27K-08 TCGA-HW-A5KJ-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5cf15542-177a-41a2-ab0f-431ac8f12270 d7a1caca-7dea-4119-969a-6a92db1deb14 g.chr11:66610961T>C ENST00000309657.3 + 1 79 c.35T>C c.(34-36)cTg>cCg p.L12P RCE1_ENST00000524506.1_Missense_Mutation_p.L12P|C11orf80_ENST00000360962.4_3'UTR NM_001032279.1|NM_005133.2 NP_001027450.1|NP_005124.1 Q9Y256 FACE2_HUMAN Ras converting CAAX endopeptidase 1 12 proteolysis endoplasmic reticulum membrane|integral to plasma membrane metalloendopeptidase activity breast(2)|kidney(1)|large_intestine(2)|lung(2)|ovary(1)|prostate(1)|skin(1) 10 CTGCGACTGCTGTCGGTGTCG 0.756000 3 1 0 0 1 0 0 MAVS 57506 broad.mit.edu 37 20 3841977 3841977 + Splice_Site SNP A A G TCGA-HW-A5KJ-01A-12D-A27K-08 TCGA-HW-A5KJ-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5cf15542-177a-41a2-ab0f-431ac8f12270 d7a1caca-7dea-4119-969a-6a92db1deb14 g.chr20:3841977A>G ENST00000428216.2 + 4 420 c.e4-1 MAVS_ENST00000416600.2_Splice_Site|MAVS_ENST00000358134.6_Intron NM_020746.4 NP_065797.2 Q7Z434 MAVS_HUMAN mitochondrial antiviral signaling protein activation of innate immune response|cellular response to exogenous dsRNA|defense response to bacterium|innate immune response|interspecies interaction between organisms|negative regulation of type I interferon production|positive regulation of chemokine (C-C motif) ligand 5 production|positive regulation of defense response to virus by host|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of interferon-alpha production|positive regulation of interferon-beta production|positive regulation of interleukin-8 production|positive regulation of IP-10 production|positive regulation of protein import into nucleus, translocation|positive regulation of protein phosphorylation|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of transcription factor import into nucleus|positive regulation of transcription from RNA polymerase II promoter|positive regulation of tumor necrosis factor production|positive regulation of type I interferon-mediated signaling pathway|response to virus integral to membrane|mitochondrial outer membrane CARD domain binding|protein kinase binding|signal transducer activity autonomic_ganglia(1)|breast(3)|endometrium(1)|large_intestine(3)|lung(4)|skin(1)|upper_aerodigestive_tract(1) 14 TTTGTCCTCTAGGGACCTCGG 0.602000 48 86 0 0 1 0 0 ADAMTS1 9510 broad.mit.edu 37 21 28210518 28210518 + Missense_Mutation SNP T T A TCGA-HW-A5KJ-01A-12D-A27K-08 TCGA-HW-A5KJ-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5cf15542-177a-41a2-ab0f-431ac8f12270 d7a1caca-7dea-4119-969a-6a92db1deb14 g.chr21:28210518T>A ENST00000284984.2 - 9 2738 c.2284A>T c.(2284-2286)Agg>Tgg p.R762W NM_006988.3 NP_008919.3 Q9UHI8 ATS1_HUMAN ADAM metallopeptidase with thrombospondin type 1 motif, 1 762 Spacer. integrin-mediated signaling pathway|negative regulation of cell proliferation|proteolysis heparin binding|zinc ion binding central_nervous_system(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(12)|lung(20)|ovary(2)|prostate(2)|skin(1)|urinary_tract(1) 42 Breast(209;0.000962) Lung(58;0.215) CCATTGTTCCTGGATCCCCTC 0.448000 22 27 0 0 1 0 0 IRAK4 51135 broad.mit.edu 37 12 44180218 44180218 + Missense_Mutation SNP A A C TCGA-HW-A5KJ-01A-12D-A27K-08 TCGA-HW-A5KJ-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5cf15542-177a-41a2-ab0f-431ac8f12270 d7a1caca-7dea-4119-969a-6a92db1deb14 g.chr12:44180218A>C ENST00000431837.1 + 10 1141 c.833A>C c.(832-834)gAa>gCa p.E278A IRAK4_ENST00000440781.2_Missense_Mutation_p.E278A|IRAK4_ENST00000448290.2_Missense_Mutation_p.E402A|IRAK4_ENST00000551736.1_Missense_Mutation_p.E402A NM_001145256.1|NM_001145257.1 NP_001138728.1|NP_001138729.1 Q9NWZ3 IRAK4_HUMAN interleukin-1 receptor-associated kinase 4 402 Protein kinase. innate immune response|MyD88-dependent toll-like receptor signaling pathway|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 4 signaling pathway cytosol|endosome membrane|plasma membrane ATP binding|magnesium ion binding|protein serine/threonine kinase activity all_cancers(12;0.00149) Lung NSC(34;0.0804)|all_lung(34;0.181) GBM - Glioblastoma multiforme(48;0.04) ATTAAAGAAGAAATTGAAGAT 0.249000 3 47 0 0 1 0 0 PCLO 27445 broad.mit.edu 37 7 82784381 82784381 + Missense_Mutation SNP A A G TCGA-HW-A5KJ-01A-12D-A27K-08 TCGA-HW-A5KJ-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5cf15542-177a-41a2-ab0f-431ac8f12270 d7a1caca-7dea-4119-969a-6a92db1deb14 g.chr7:82784381A>G ENST00000423517.2 - 2 1913 c.1576T>C c.(1576-1578)Tca>Cca p.S526P PCLO_ENST00000333891.8_Missense_Mutation_p.S526P NM_014510.2 NP_055325.2 Q9Y6V0 PCLO_HUMAN piccolo presynaptic cytomatrix protein 472 Pro-rich. cytoskeleton organization|synaptic vesicle exocytosis cell junction|cytoskeleton|synaptic vesicle calcium ion binding|calcium-dependent phospholipid binding|profilin binding|transporter activity breast(3)|central_nervous_system(3)|cervix(5)|endometrium(19)|haematopoietic_and_lymphoid_tissue(3)|kidney(19)|large_intestine(35)|lung(145)|ovary(7)|prostate(4)|upper_aerodigestive_tract(14)|urinary_tract(2) 259 GGTTTTGTTGAGCCAGGCTGT 0.567000 8 503 0 0 1 0 0 ZNRD1-AS1 0 broad.mit.edu 37 6 29977342 29977342 + RNA SNP A A T rs116382006 by1000genomes TCGA-HW-A5KJ-01A-12D-A27K-08 TCGA-HW-A5KJ-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5cf15542-177a-41a2-ab0f-431ac8f12270 d7a1caca-7dea-4119-969a-6a92db1deb14 g.chr6:29977342A>T ENST00000376797.3 - 0 731 ZNRD1-AS1_ENST00000448093.1_RNA|ZNRD1-AS1_ENST00000420251.1_RNA|ZNRD1-AS1_ENST00000425604.1_RNA|HLA-J_ENST00000462773.1_RNA TGGGACTGAGAGGCAAGATTT 0.438000 4 56 0 0 1 0 0 CCDC88B 283234 broad.mit.edu 37 11 64111866 64111866 + Missense_Mutation SNP A A C rs142814776 TCGA-HW-A5KJ-01A-12D-A27K-08 TCGA-HW-A5KJ-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5cf15542-177a-41a2-ab0f-431ac8f12270 d7a1caca-7dea-4119-969a-6a92db1deb14 g.chr11:64111866A>C ENST00000356786.5 + 14 1897 c.1853A>C c.(1852-1854)cAg>cCg p.Q618P CCDC88B_ENST00000301897.4_5'UTR|CCDC88B_ENST00000463837.1_3'UTR NM_032251.5 NP_115627.6 A6NC98 CC88B_HUMAN coiled-coil domain containing 88B 618 microtubule cytoskeleton organization cytoplasm microtubule binding endometrium(1)|kidney(2)|large_intestine(1)|lung(12)|ovary(3)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1) 27 CAGGCCCCGCAGTTGCTGGGA 0.647000 16 42 0 0 1 0 0 FAM86JP 0 broad.mit.edu 37 3 125647396 125647396 + RNA SNP T T C TCGA-HW-A5KJ-01A-12D-A27K-08 TCGA-HW-A5KJ-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5cf15542-177a-41a2-ab0f-431ac8f12270 d7a1caca-7dea-4119-969a-6a92db1deb14 g.chr3:125647396T>C ENST00000485843.1 + 0 541 NR_024251.1 TGTTTCCCTATGAAGAGCACT 0.502000 5 171 0 0 1 0 0 RASSF9 9182 broad.mit.edu 37 12 86199470 86199470 + Silent SNP C C T TCGA-HW-A5KJ-01A-12D-A27K-08 TCGA-HW-A5KJ-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5cf15542-177a-41a2-ab0f-431ac8f12270 d7a1caca-7dea-4119-969a-6a92db1deb14 g.chr12:86199470C>T ENST00000361228.3 - 2 686 c.318G>A c.(316-318)gaG>gaA p.E106E NM_005447.3 NP_005438.2 O75901 RASF9_HUMAN Ras association (RalGDS/AF-6) domain family (N-terminal) member 9 106 Ras-associating. endosome transport|protein targeting|signal transduction cytosol|endosome|trans-Golgi network transport vesicle membrane protein binding|transporter activity endometrium(2)|kidney(2)|large_intestine(3)|liver(1)|lung(11)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 22 TATTGGGCTGCTCATCTCCCC 0.448000 13 123 0 0 1 0 0 SOX10 6663 broad.mit.edu 37 22 38379483 38379483 + Silent SNP G G A TCGA-HW-A5KJ-01A-12D-A27K-08 TCGA-HW-A5KJ-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5cf15542-177a-41a2-ab0f-431ac8f12270 d7a1caca-7dea-4119-969a-6a92db1deb14 g.chr22:38379483G>A ENST00000396884.2 - 2 591 c.309C>T c.(307-309)caC>caT p.H103H POLR2F_ENST00000407936.1_Intron|POLR2F_ENST00000405557.1_Intron|SOX10_ENST00000360880.2_Silent_p.H103H|SOX10_ENST00000470555.1_Intron NM_006941.3 NP_008872.1 P56693 SOX10_HUMAN SRY (sex determining region Y)-box 10 103 cytoplasm|nucleus DNA binding|identical protein binding|transcription coactivator activity NS(6)|breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(4)|skin(2) 20 Melanoma(58;0.045) GCCGCTTGACGTGCGGCTTGC 0.662000 3 29 0 0 1 0 0 SZT2 23334 broad.mit.edu 37 1 43912030 43912033 + Frame_Shift_Del DEL CAAA CAAA - TCGA-HW-A5KJ-01A-12D-A27K-08 TCGA-HW-A5KJ-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5cf15542-177a-41a2-ab0f-431ac8f12270 d7a1caca-7dea-4119-969a-6a92db1deb14 g.chr1:43912030_43912033delCAAA ENST00000562955.1 + 64 8844_8847 c.8844_8847delCAAA c.(8842-8847)gtfs p.VK2948fs SZT2_ENST00000372442.1_Frame_Shift_Del_p.VK2106fs NM_015284.3 NP_056099.3 Q5T011 SZT2_HUMAN seizure threshold 2 homolog (mouse) 3005 peroxisome NS(2)|breast(9)|central_nervous_system(1)|endometrium(17)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(19)|lung(39)|ovary(4)|pancreas(3)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(3) 113 ACTTCTGTGTCAAACAGTTTGCCC 0.559 36 24 --- --- --- --- PI4KB 5298 broad.mit.edu 37 1 151265460 151265461 + Frame_Shift_Del DEL TT TT - TCGA-HW-A5KJ-01A-12D-A27K-08 TCGA-HW-A5KJ-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5cf15542-177a-41a2-ab0f-431ac8f12270 d7a1caca-7dea-4119-969a-6a92db1deb14 g.chr1:151265460_151265461delTT ENST00000368875.2 - 13 2934_2935 c.2354_2355delAA c.(2353-2355)afs p.K785fs PI4KB_ENST00000271657.5_Frame_Shift_Del_p.K785fs|PI4KB_ENST00000368873.1_Frame_Shift_Del_p.K773fs|PI4KB_ENST00000368874.4_Frame_Shift_Del_p.K758fs|PI4KB_ENST00000529142.1_Frame_Shift_Del_p.K441fs|PI4KB_ENST00000368872.1_Frame_Shift_Del_p.K758fs NM_002651.2 NP_002642.1 Q9UBF8 PI4KB_HUMAN phosphatidylinositol 4-kinase, catalytic, beta 773 phosphatidylinositol biosynthetic process|phosphatidylinositol-mediated signaling|receptor-mediated endocytosis endosome|Golgi apparatus|mitochondrial outer membrane|perinuclear region of cytoplasm|rough endoplasmic reticulum membrane 1-phosphatidylinositol 4-kinase activity|ATP binding|protein binding breast(3)|endometrium(5)|kidney(3)|large_intestine(2)|lung(7)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(1) 27 Lung SC(34;0.00471)|Ovarian(49;0.0147)|Hepatocellular(266;0.0997)|all_hematologic(923;0.127)|Melanoma(130;0.185) UCEC - Uterine corpus endometrioid carcinoma (35;0.112)|LUSC - Lung squamous cell carcinoma(543;0.181) GGAACCTCTCTTTGAGGTTTCG 0.564 46 55 --- --- --- --- NAV1 89796 broad.mit.edu 37 1 201752572 201752577 + In_Frame_Del DEL CCAATC CCAATC - rs150728227 TCGA-HW-A5KJ-01A-12D-A27K-08 TCGA-HW-A5KJ-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5cf15542-177a-41a2-ab0f-431ac8f12270 d7a1caca-7dea-4119-969a-6a92db1deb14 g.chr1:201752572_201752577delCCAATC ENST00000367296.4 + 7 2816_2821 c.2396_2401delCCAATC c.(2395-2403)gtt>g p.ANL799del NAV1_ENST00000367302.1_In_Frame_Del_p.ANL812del|NAV1_ENST00000367295.1_In_Frame_Del_p.ANL408del|NAV1_ENST00000367300.3_In_Frame_Del_p.ANL799del|NAV1_ENST00000367297.4_In_Frame_Del_p.ANL799del|NAV1_ENST00000295624.6_In_Frame_Del_p.ANL799del|NAV1_ENST00000469130.1_3'UTR|IPO9-AS1_ENST00000413035.1_RNA NM_020443.4 NP_065176.3 Q8NEY1 NAV1_HUMAN neuron navigator 1 799 cell differentiation|nervous system development cytoplasm|microtubule nucleoside-triphosphatase activity|nucleotide binding breast(5)|central_nervous_system(4)|endometrium(4)|haematopoietic_and_lymphoid_tissue(5)|kidney(3)|large_intestine(10)|lung(29)|ovary(4)|prostate(3)|skin(1)|stomach(2) 70 CCCTCACTAGCCAATCTTGACAAGGT 0.456 9 508 --- --- --- --- OR14A16 284532 broad.mit.edu 37 1 247978839 247978840 + Frame_Shift_Del DEL AT AT - TCGA-HW-A5KJ-01A-12D-A27K-08 TCGA-HW-A5KJ-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5cf15542-177a-41a2-ab0f-431ac8f12270 d7a1caca-7dea-4119-969a-6a92db1deb14 g.chr1:247978839_247978840delAT ENST00000357627.1 - 1 191_192 c.192_193delAT c.(190-195)ctctfs p.LS64fs NM_001001966.1 NP_001001966.1 Q8NHC5 O14AG_HUMAN olfactory receptor, family 14, subfamily A, member 16 64 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity breast(1)|endometrium(5)|kidney(1)|large_intestine(3)|lung(32)|skin(2)|stomach(1) 45 TCCAAGAAAGATAGATTCTTCA 0.421 29 45 --- --- --- --- BRE 9577 broad.mit.edu 37 2 28550157 28550158 + Frame_Shift_Del DEL AG AG - TCGA-HW-A5KJ-01A-12D-A27K-08 TCGA-HW-A5KJ-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5cf15542-177a-41a2-ab0f-431ac8f12270 d7a1caca-7dea-4119-969a-6a92db1deb14 g.chr2:28550157_28550158delAG ENST00000344773.2 + 12 1243_1244 c.1105_1106delAG c.(1105-1107)afs p.R369fs BRE_ENST00000379624.1_Intron|BRE_ENST00000379632.2_Intron|BRE_ENST00000361704.2_Intron|BRE_ENST00000342045.2_Intron NM_004899.4 NP_004890.2 Q9NXR7 BRE_HUMAN brain and reproductive organ-expressed (TNFRSF1A modulator) 0 apoptosis|chromatin modification|double-strand break repair|G2/M transition DNA damage checkpoint|positive regulation of anti-apoptosis|positive regulation of DNA repair|response to ionizing radiation|signal transduction BRCA1-A complex|BRISC complex|cytoplasm|nuclear ubiquitin ligase complex peroxisome targeting sequence binding|polyubiquitin binding|tumor necrosis factor receptor binding p.R369K(1) NS(1)|endometrium(3)|kidney(2)|large_intestine(2)|lung(11)|prostate(2)|skin(2) 23 Acute lymphoblastic leukemia(172;0.155) CCAAGGGAGCAGAGATGCCTGC 0.609 57 135 --- --- --- --- RAB3GAP1 22930 broad.mit.edu 37 2 135920344 135920346 + In_Frame_Del DEL AAG AAG - TCGA-HW-A5KJ-01A-12D-A27K-08 TCGA-HW-A5KJ-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5cf15542-177a-41a2-ab0f-431ac8f12270 d7a1caca-7dea-4119-969a-6a92db1deb14 g.chr2:135920344_135920346delAAG ENST00000264158.8 + 21 2456_2458 c.2413_2415delAAG c.(2413-2415)del p.K806del RAB3GAP1_ENST00000539493.1_In_Frame_Del_p.K762del|RAB3GAP1_ENST00000487003.1_3'UTR|ZRANB3_ENST00000412849.1_Intron|RAB3GAP1_ENST00000442034.1_In_Frame_Del_p.K806del NM_012233.2 NP_036365.1 Q15042 RB3GP_HUMAN RAB3 GTPase activating protein subunit 1 (catalytic) 806 centrosome|nucleus|soluble fraction Rab GTPase activator activity|Rab GTPase binding breast(1)|central_nervous_system(1)|endometrium(5)|kidney(3)|large_intestine(5)|liver(1)|lung(10)|ovary(1)|prostate(1)|skin(3)|urinary_tract(1) 32 BRCA - Breast invasive adenocarcinoma(221;0.117) TTCTTCAGTTAAGAAGATCATAA 0.315 29 75 --- --- --- --- SP3 6670 broad.mit.edu 37 2 174774916 174774917 + Frame_Shift_Del DEL AT AT - TCGA-HW-A5KJ-01A-12D-A27K-08 TCGA-HW-A5KJ-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5cf15542-177a-41a2-ab0f-431ac8f12270 d7a1caca-7dea-4119-969a-6a92db1deb14 g.chr2:174774916_174774917delAT ENST00000310015.6 - 7 2628_2629 c.2098_2099delAT c.(2098-2100)tfs p.I700fs SP3_ENST00000455789.2_Frame_Shift_Del_p.I647fs|SP3_ENST00000418194.2_Frame_Shift_Del_p.I632fs NM_001172712.1|NM_003111.4 NP_001166183.1|NP_003102.1 Q02447 SP3_HUMAN Sp3 transcription factor 700 negative regulation of transcription, DNA-dependent|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent PML body protein binding|zinc ion binding EWSR1/SP3(3) NS(2)|large_intestine(3)|ovary(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1) 9 OV - Ovarian serous cystadenocarcinoma(117;0.185) GTGTGTTTTAATATGTTTGGCA 0.376 42 54 --- --- --- --- ZBTB20 26137 broad.mit.edu 37 3 114058229 114058231 + In_Frame_Del DEL AGG AGG - TCGA-HW-A5KJ-01A-12D-A27K-08 TCGA-HW-A5KJ-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5cf15542-177a-41a2-ab0f-431ac8f12270 d7a1caca-7dea-4119-969a-6a92db1deb14 g.chr3:114058229_114058231delAGG ENST00000462705.1 - 12 2449_2451 c.1628_1630delCCT c.(1627-1632)tta>t p.SL543del ZBTB20_ENST00000464560.1_In_Frame_Del_p.SL543del|ZBTB20_ENST00000393785.2_In_Frame_Del_p.SL543del|ZBTB20_ENST00000471418.1_In_Frame_Del_p.SL543del|ZBTB20_ENST00000474710.1_In_Frame_Del_p.SL616del|ZBTB20_ENST00000481632.1_In_Frame_Del_p.SL543del|ZBTB20_ENST00000357258.3_In_Frame_Del_p.SL543del NM_001164343.1 NP_001157815.1 Q9HC78 ZBT20_HUMAN zinc finger and BTB domain containing 20 616 S -> F (in Ref. 5; AAH29041). regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding breast(1)|central_nervous_system(1)|endometrium(10)|kidney(2)|large_intestine(8)|lung(15)|ovary(4)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2) 48 LUSC - Lung squamous cell carcinoma(41;0.0581)|Lung(219;0.191) TAATCCTTTAAGGAGAAGGAGCG 0.507 26 51 --- --- --- --- CCDC96 257236 broad.mit.edu 37 4 7044489 7044489 + Frame_Shift_Del DEL T T - TCGA-HW-A5KJ-01A-12D-A27K-08 TCGA-HW-A5KJ-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5cf15542-177a-41a2-ab0f-431ac8f12270 d7a1caca-7dea-4119-969a-6a92db1deb14 g.chr4:7044489delT ENST00000310085.4 - 1 239 c.177delA c.(175-177)ggfs p.G60fs RP11-367J11.2_ENST00000500031.1_RNA NM_153376.2 NP_699207.1 Q2M329 CCD96_HUMAN coiled-coil domain containing 96 60 Glu-rich. endometrium(3)|kidney(1)|large_intestine(3)|lung(2)|skin(1)|urinary_tract(1) 11 CGGCGGTGCCTCCCTGCGAAG 0.736 2 4 --- --- --- --- GALNTL6 442117 broad.mit.edu 37 4 173961139 173961141 + In_Frame_Del DEL AGA AGA - TCGA-HW-A5KJ-01A-12D-A27K-08 TCGA-HW-A5KJ-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5cf15542-177a-41a2-ab0f-431ac8f12270 d7a1caca-7dea-4119-969a-6a92db1deb14 g.chr4:173961139_173961141delAGA ENST00000506823.1 + 13 2351_2353 c.1694_1696delAGA c.(1693-1698)gag>g p.EK565del GALNTL6_ENST00000508122.1_In_Frame_Del_p.EK548del NM_001034845.2 NP_001030017.2 Q49A17 GLTL6_HUMAN UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase-like 6 565 Ricin B-type lectin. Golgi membrane|integral to membrane metal ion binding|polypeptide N-acetylgalactosaminyltransferase activity|sugar binding p.K567delK(1) breast(2)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|liver(2)|lung(21)|ovary(1)|pancreas(1)|prostate(1)|skin(2) 45 AACCCCGCAGAGAAGAAGATTTT 0.424 25 61 --- --- --- --- FNDC9 408263 broad.mit.edu 37 5 156770389 156770391 + In_Frame_Del DEL CTC CTC - TCGA-HW-A5KJ-01A-12D-A27K-08 TCGA-HW-A5KJ-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5cf15542-177a-41a2-ab0f-431ac8f12270 d7a1caca-7dea-4119-969a-6a92db1deb14 g.chr5:156770389_156770391delCTC ENST00000312349.4 - 2 341_343 c.154_156delGAG c.(154-156)del p.E52del CYFIP2_ENST00000442283.2_Intron|CYFIP2_ENST00000521420.1_Intron|CYFIP2_ENST00000541131.1_Intron|CYFIP2_ENST00000435847.2_Intron|CYFIP2_ENST00000318218.6_Intron|CYFIP2_ENST00000522463.1_Intron|CYFIP2_ENST00000347377.6_Intron|CYFIP2_ENST00000377576.3_Intron NM_001001343.3 NP_001001343.2 Q8TBE3 FNDC9_HUMAN fibronectin type III domain containing 9 52 Fibronectin type-III. integral to membrane central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(1)|prostate(1)|skin(1)|urinary_tract(1) 9 GAGGCACCTTCTCCTCGTGGTGG 0.537 47 90 --- --- --- --- EPB41L2 2037 broad.mit.edu 37 6 131277495 131277497 + In_Frame_Del DEL TCC TCC - TCGA-HW-A5KJ-01A-12D-A27K-08 TCGA-HW-A5KJ-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5cf15542-177a-41a2-ab0f-431ac8f12270 d7a1caca-7dea-4119-969a-6a92db1deb14 g.chr6:131277495_131277497delTCC ENST00000337057.3 - 2 310_312 c.129_131delGGA c.(127-132)gaa>ga p.EE43del EPB41L2_ENST00000525193.1_In_Frame_Del_p.EE43del|EPB41L2_ENST00000527659.1_In_Frame_Del_p.EE43del|EPB41L2_ENST00000530148.1_Intron|EPB41L2_ENST00000529208.1_In_Frame_Del_p.EE43del|EPB41L2_ENST00000528282.1_In_Frame_Del_p.EE43del|EPB41L2_ENST00000445890.2_In_Frame_Del_p.EE43del|EPB41L2_ENST00000368128.2_In_Frame_Del_p.EE43del|EPB41L2_ENST00000527411.1_In_Frame_Del_p.EE43del|EPB41L2_ENST00000392427.3_In_Frame_Del_p.EE43del|EPB41L2_ENST00000525271.1_In_Frame_Del_p.EE43del|EPB41L2_ENST00000530481.1_In_Frame_Del_p.EE43del NM_001431.3 NP_001422.1 O43491 E41L2_HUMAN erythrocyte membrane protein band 4.1-like 2 43 cortical actin cytoskeleton organization extrinsic to membrane|plasma membrane|spectrin actin binding|structural molecule activity autonomic_ganglia(1)|central_nervous_system(1)|endometrium(7)|kidney(2)|large_intestine(7)|lung(23)|prostate(1)|skin(2) 44 Breast(56;0.0639) OV - Ovarian serous cystadenocarcinoma(155;0.0271)|GBM - Glioblastoma multiforme(226;0.0355) GGAACCTTTTTCCTCCTCTGGAT 0.483 36 85 --- --- --- --- AC006988.1 0 broad.mit.edu 37 7 88269891 88269891 + RNA DEL T T - TCGA-HW-A5KJ-01A-12D-A27K-08 TCGA-HW-A5KJ-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5cf15542-177a-41a2-ab0f-431ac8f12270 d7a1caca-7dea-4119-969a-6a92db1deb14 g.chr7:88269891delT ENST00000390184.1 + 0 57 GAAGGAGCACTTTTTTTTTTT 0.313 2 4 --- --- --- --- KMT2E 55904 broad.mit.edu 37 7 104717788 104717789 + Frame_Shift_Del DEL AA AA - TCGA-HW-A5KJ-01A-12D-A27K-08 TCGA-HW-A5KJ-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5cf15542-177a-41a2-ab0f-431ac8f12270 d7a1caca-7dea-4119-969a-6a92db1deb14 g.chr7:104717788_104717789delAA ENST00000334877.4 + 11 1572_1573 c.1038_1039delAA c.(1036-1041)gcaafs p.AK346fs KMT2E_ENST00000476671.1_Frame_Shift_Del_p.AK346fs|KMT2E_ENST00000257745.4_Frame_Shift_Del_p.AK346fs|KMT2E_ENST00000334914.7_5'UTR|KMT2E_ENST00000311117.3_Frame_Shift_Del_p.AK346fs lysine (K)-specific methyltransferase 2E TTAAATCTGCAAAAGATTTGCC 0.292 41 38 --- --- --- --- FAM91A1 157769 broad.mit.edu 37 8 124789562 124789563 + Splice_Site DEL TG TG - TCGA-HW-A5KJ-01A-12D-A27K-08 TCGA-HW-A5KJ-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5cf15542-177a-41a2-ab0f-431ac8f12270 d7a1caca-7dea-4119-969a-6a92db1deb14 g.chr8:124789562_124789563delTG ENST00000334705.7 + 4 613 c.367_splice c.e4+1 p.123_splice FAM91A1_ENST00000521166.1_Splice_Site_p.123_splice NM_144963.2 NP_659400.2 Q658Y4 F91A1_HUMAN family with sequence similarity 91, member A1 123 breast(4)|central_nervous_system(3)|endometrium(6)|kidney(2)|large_intestine(3)|lung(6)|ovary(1)|pancreas(1)|prostate(1)|skin(1) 28 Lung NSC(37;8.76e-13)|Ovarian(258;0.00744)|all_neural(195;0.0741) STAD - Stomach adenocarcinoma(47;0.00192) TGCTGCTGACTGTAAGTATTTA 0.302 17 53 --- --- --- --- RUSC2 9853 broad.mit.edu 37 9 35560631 35560633 + In_Frame_Del DEL GAG GAG - TCGA-HW-A5KJ-01A-12D-A27K-08 TCGA-HW-A5KJ-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5cf15542-177a-41a2-ab0f-431ac8f12270 d7a1caca-7dea-4119-969a-6a92db1deb14 g.chr9:35560631_35560633delGAG ENST00000455600.1 + 10 4563_4565 c.3994_3996delGAG c.(3994-3996)del p.E1333del NM_001135999.1 NP_001129471.1 Q8N2Y8 RUSC2_HUMAN RUN and SH3 domain containing 2 1333 cytosol NS(1)|breast(3)|endometrium(4)|kidney(1)|large_intestine(9)|lung(4)|ovary(2)|prostate(4)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 32 Lung(28;0.000837)|LUSC - Lung squamous cell carcinoma(32;0.00109)|STAD - Stomach adenocarcinoma(86;0.194) CCCTGCCTCTGAGGAGGCCCTGG 0.700 10 15 --- --- --- --- ARHGEF39 84904 broad.mit.edu 37 9 35663036 35663037 + Frame_Shift_Del DEL CT CT - TCGA-HW-A5KJ-01A-12D-A27K-08 TCGA-HW-A5KJ-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5cf15542-177a-41a2-ab0f-431ac8f12270 d7a1caca-7dea-4119-969a-6a92db1deb14 g.chr9:35663036_35663037delCT ENST00000378387.3 - 6 696_697 c.579_580delAG c.(577-582)agtcfs p.RV193fs ARHGEF39_ENST00000343259.3_Intron|ARHGEF39_ENST00000378395.2_Frame_Shift_Del_p.RV157fs|ARHGEF39_ENST00000490970.1_Intron NM_032818.2 NP_116207.2 Rho guanine nucleotide exchange factor (GEF) 39 ATAGTATGGACTCTCTGGGCAG 0.530 51 71 --- --- --- --- NOTCH1 4851 broad.mit.edu 37 9 139397632 139397635 + Splice_Site DEL ACTC ACTC - TCGA-HW-A5KJ-01A-12D-A27K-08 TCGA-HW-A5KJ-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5cf15542-177a-41a2-ab0f-431ac8f12270 d7a1caca-7dea-4119-969a-6a92db1deb14 g.chr9:139397632_139397635delACTC ENST00000277541.6 - 27 5241_5243 c.5167_splice c.e27+1 p.H1722_splice NM_017617.3 NP_060087.3 P46531 NOTC1_HUMAN notch 1 1722 aortic valve morphogenesis|immune response|negative regulation of BMP signaling pathway|negative regulation of cell-substrate adhesion|negative regulation of myoblast differentiation|negative regulation of osteoblast differentiation|negative regulation of transcription, DNA-dependent|Notch receptor processing cytosol|endoplasmic reticulum lumen|extracellular region|Golgi lumen|integral to membrane|nucleoplasm|plasma membrane calcium ion binding|protein binding|receptor activity p.?(2) breast(16)|central_nervous_system(17)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1183)|kidney(4)|large_intestine(1)|lung(57)|oesophagus(2)|ovary(3)|pancreas(1)|prostate(3)|skin(21)|upper_aerodigestive_tract(39)|urinary_tract(3) 1359 all_cancers(76;0.223) Myeloproliferative disorder(178;0.0511) OV - Ovarian serous cystadenocarcinoma(145;5.34e-06)|Epithelial(140;7.77e-06) GGCCACACTTACTCTGCACGGCCT 0.662 """T, Mis, O""" TRB@ T-ALL HNSCC(8;0.001) 19 73 --- --- --- --- NOTCH1 4851 broad.mit.edu 37 9 139413073 139413075 + In_Frame_Del DEL AGG AGG - TCGA-HW-A5KJ-01A-12D-A27K-08 TCGA-HW-A5KJ-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5cf15542-177a-41a2-ab0f-431ac8f12270 d7a1caca-7dea-4119-969a-6a92db1deb14 g.chr9:139413073_139413075delAGG ENST00000277541.6 - 6 1142_1144 c.1067_1069delCCT c.(1066-1071)ttc>t p.SF356del NM_017617.3 NP_060087.3 P46531 NOTC1_HUMAN notch 1 356 EGF-like 9; calcium-binding (Potential). aortic valve morphogenesis|immune response|negative regulation of BMP signaling pathway|negative regulation of cell-substrate adhesion|negative regulation of myoblast differentiation|negative regulation of osteoblast differentiation|negative regulation of transcription, DNA-dependent|Notch receptor processing cytosol|endoplasmic reticulum lumen|extracellular region|Golgi lumen|integral to membrane|nucleoplasm|plasma membrane calcium ion binding|protein binding|receptor activity p.S356del(1) breast(16)|central_nervous_system(17)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1183)|kidney(4)|large_intestine(1)|lung(57)|oesophagus(2)|ovary(3)|pancreas(1)|prostate(3)|skin(21)|upper_aerodigestive_tract(39)|urinary_tract(3) 1359 all_cancers(76;0.223) Myeloproliferative disorder(178;0.0511) OV - Ovarian serous cystadenocarcinoma(145;5.34e-06)|Epithelial(140;7.77e-06) TCGCAGTAGAAGGAGGCCACACG 0.650 """T, Mis, O""" TRB@ T-ALL HNSCC(8;0.001) 24 25 --- --- --- --- KAT6B 23522 broad.mit.edu 37 10 76784946 76784949 + Frame_Shift_Del DEL ACAA ACAA - TCGA-HW-A5KJ-01A-12D-A27K-08 TCGA-HW-A5KJ-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5cf15542-177a-41a2-ab0f-431ac8f12270 d7a1caca-7dea-4119-969a-6a92db1deb14 g.chr10:76784946_76784949delACAA ENST00000287239.4 + 17 4092_4095 c.3603_3606delACAA c.(3601-3606)agfs p.RQ1201fs KAT6B_ENST00000372714.1_Frame_Shift_Del_p.RQ909fs|KAT6B_ENST00000372711.1_Frame_Shift_Del_p.RQ1018fs|KAT6B_ENST00000372724.1_Frame_Shift_Del_p.RQ909fs|KAT6B_ENST00000490365.1_3'UTR|KAT6B_ENST00000372725.1_Frame_Shift_Del_p.RQ909fs NM_001256468.1|NM_012330.3 NP_001243397.1|NP_036462.2 Q8WYB5 MYST4_HUMAN K(lysine) acetyltransferase 6B 1201 histone H3 acetylation|negative regulation of transcription, DNA-dependent|nucleosome assembly|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent MOZ/MORF histone acetyltransferase complex|nucleosome DNA binding|histone acetyltransferase activity|transcription factor binding|zinc ion binding GGAAGAAAAGACAAACAGAGGAAG 0.451 23 59 --- --- --- --- SPON1 10418 broad.mit.edu 37 11 14276276 14276277 + RNA DEL GT GT - TCGA-HW-A5KJ-01A-12D-A27K-08 TCGA-HW-A5KJ-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5cf15542-177a-41a2-ab0f-431ac8f12270 d7a1caca-7dea-4119-969a-6a92db1deb14 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 7 74 --- --- --- --- FAM181B 220382 broad.mit.edu 37 11 82444076 82444078 + In_Frame_Del DEL GAA GAA - TCGA-HW-A5KJ-01A-12D-A27K-08 TCGA-HW-A5KJ-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5cf15542-177a-41a2-ab0f-431ac8f12270 d7a1caca-7dea-4119-969a-6a92db1deb14 g.chr11:82444076_82444078delGAA ENST00000329203.3 - 1 828_830 c.694_696delTTC c.(694-696)del p.F232del NM_175885.3 NP_787081.2 A6NEQ2 F181B_HUMAN family with sequence similarity 181, member B 232 Gly-rich. large_intestine(1)|lung(2)|prostate(1) 4 ACGGCTCCGTGAAGAAGGACGGA 0.754 8 10 --- --- --- --- CLEC9A 283420 broad.mit.edu 37 12 10205309 10205321 + Frame_Shift_Del DEL CCTCTCTTCAGTG CCTCTCTTCAGTG - TCGA-HW-A5KJ-01A-12D-A27K-08 TCGA-HW-A5KJ-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5cf15542-177a-41a2-ab0f-431ac8f12270 d7a1caca-7dea-4119-969a-6a92db1deb14 g.chr12:10205309_10205321delCCTCTCTTCAGTG ENST00000355819.1 + 4 636_648 c.23_35delCCTCTCTTCAGTG c.(22-36)agfs p.TSLQW8fs CLEC9A_ENST00000544751.1_3'UTR NM_207345.2 NP_997228.1 Q6UXN8 CLC9A_HUMAN C-type lectin domain family 9, member A 8 positive regulation of cytokine secretion|receptor-mediated endocytosis cell surface|integral to membrane receptor activity|sugar binding breast(1)|endometrium(2)|kidney(2)|large_intestine(5)|lung(8)|ovary(1)|prostate(2)|urinary_tract(1) 22 GAAATATACACCTCTCTTCAGTGGGATAGCCCA 0.441 11 54 --- --- --- --- ALDH1L2 160428 broad.mit.edu 37 12 105464505 105464507 + In_Frame_Del DEL CTT CTT - TCGA-HW-A5KJ-01A-12D-A27K-08 TCGA-HW-A5KJ-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5cf15542-177a-41a2-ab0f-431ac8f12270 d7a1caca-7dea-4119-969a-6a92db1deb14 g.chr12:105464505_105464507delCTT ENST00000258494.9 - 3 409_411 c.269_271delAAG c.(268-273)gtg>g p.EV90del ALDH1L2_ENST00000424857.2_In_Frame_Del_p.EV90del NM_001034173.3 NP_001029345.2 Q3SY69 AL1L2_HUMAN aldehyde dehydrogenase 1 family, member L2 90 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 GCTTCTGCCACTTCTTTGATGGT 0.463 20 86 --- --- --- --- BRMS1L 84312 broad.mit.edu 37 14 36295747 36295749 + In_Frame_Del DEL AAG AAG - TCGA-HW-A5KJ-01A-12D-A27K-08 TCGA-HW-A5KJ-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5cf15542-177a-41a2-ab0f-431ac8f12270 d7a1caca-7dea-4119-969a-6a92db1deb14 g.chr14:36295747_36295749delAAG ENST00000216807.7 + 1 224_226 c.25_27delAAG c.(25-27)del p.K10del RP11-317N8.5_ENST00000555918.1_RNA|BRMS1L_ENST00000543183.1_5'UTR NM_032352.3 NP_115728.2 Q5PSV4 BRM1L_HUMAN breast cancer metastasis-suppressor 1-like 10 regulation of growth|regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus breast(1)|cervix(1)|endometrium(2)|kidney(1)|lung(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1) 9 Breast(36;0.137)|Hepatocellular(127;0.158) Lung(8;1.7e-07)|LUAD - Lung adenocarcinoma(9;3e-07)|Epithelial(34;0.00467)|all cancers(34;0.0157)|BRCA - Breast invasive adenocarcinoma(188;0.158) GBM - Glioblastoma multiforme(112;0.0333) CCGAGGGGATAAGAAGGAGACCA 0.631 11 9 --- --- --- --- PIGW 284098 broad.mit.edu 37 17 34893506 34893508 + In_Frame_Del DEL AGG AGG - TCGA-HW-A5KJ-01A-12D-A27K-08 TCGA-HW-A5KJ-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5cf15542-177a-41a2-ab0f-431ac8f12270 d7a1caca-7dea-4119-969a-6a92db1deb14 g.chr17:34893506_34893508delAGG ENST00000592983.1 + 2 1136_1138 c.556_558delAGG c.(556-558)del p.R188del PIGW_ENST00000328396.2_In_Frame_Del_p.R188del|MYO19_ENST00000590081.1_Intron Q7Z7B1 PIGW_HUMAN phosphatidylinositol glycan anchor biosynthesis, class W 188 C-terminal protein lipidation|preassembly of GPI anchor in ER membrane endoplasmic reticulum membrane|integral to membrane O-acyltransferase activity breast(2)|endometrium(3)|kidney(1)|large_intestine(1)|lung(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 13 Breast(25;0.00957)|Ovarian(249;0.17) Kidney(155;0.104) UCEC - Uterine corpus endometrioid carcinoma (308;0.0182) TCTAGAGGTCAGGAGGAGAAAAT 0.424 50 141 --- --- --- --- SPECC1L 23384 broad.mit.edu 37 22 24718811 24718812 + Frame_Shift_Del DEL TT TT - TCGA-HW-A5KJ-01A-12D-A27K-08 TCGA-HW-A5KJ-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5cf15542-177a-41a2-ab0f-431ac8f12270 d7a1caca-7dea-4119-969a-6a92db1deb14 g.chr22:24718811_24718812delTT ENST00000314328.9 + 5 2148_2149 c.1863_1864delTT c.(1861-1866)actgfs p.TL621fs KB-1896H10.1_ENST00000358654.2_Frame_Shift_Del_p.TL621fs|SPECC1L_ENST00000437398.1_Frame_Shift_Del_p.TL621fs|SPECC1L_ENST00000541492.1_Frame_Shift_Del_p.TL621fs|SPECC1L_ENST00000416735.1_Intron NM_001254733.1|NM_015330.3 NP_001241662.1|NP_056145.3 Q69YQ0 CYTSA_HUMAN sperm antigen with calponin homology and coiled-coil domains 1-like 621 cell cycle|cell division breast(1)|endometrium(1)|kidney(4)|large_intestine(7)|lung(6)|ovary(1)|prostate(1)|skin(3)|stomach(2)|urinary_tract(1) 27 AAGCAGAGACTTTGGCTAGTAG 0.416 50 103 --- --- --- --- PRR5 55615 broad.mit.edu 37 22 45127647 45127649 + In_Frame_Del DEL CTT CTT - TCGA-HW-A5KJ-01A-12D-A27K-08 TCGA-HW-A5KJ-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5cf15542-177a-41a2-ab0f-431ac8f12270 d7a1caca-7dea-4119-969a-6a92db1deb14 g.chr22:45127647_45127649delCTT ENST00000403581.1 + 7 1038_1040 c.429_431delCTT c.(427-432)gac>ga p.DF143del PRR5-ARHGAP8_ENST00000352766.7_In_Frame_Del_p.DF120del|PRR5-ARHGAP8_ENST00000361473.5_Intron|ARHGAP8_ENST00000389773.5_Intron|PRR5_ENST00000336985.6_In_Frame_Del_p.DF120del|ARHGAP8_ENST00000517296.3_In_Frame_Del_p.DF120del|PRR5_ENST00000477331.1_3'UTR NM_001198721.1 NP_001185650.1 proline rich 5 (renal) central_nervous_system(1)|endometrium(2)|lung(6)|prostate(1)|skin(1) 11 all_neural(38;0.00409)|Ovarian(80;0.024)|Glioma(61;0.0647) UCEC - Uterine corpus endometrioid carcinoma (28;0.168) AGACCTGGGACTTCTTCTTCAGT 0.660 12 102 --- --- --- --- BCOR 54880 broad.mit.edu 37 X 39934072 39934075 + Frame_Shift_Del DEL TGTT TGTT - TCGA-HW-A5KJ-01A-12D-A27K-08 TCGA-HW-A5KJ-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5cf15542-177a-41a2-ab0f-431ac8f12270 d7a1caca-7dea-4119-969a-6a92db1deb14 g.chrX:39934072_39934075delTGTT ENST00000342274.4 - 4 886_889 c.524_527delAACA c.(523-528)agfs p.KQ175fs BCOR_ENST00000378455.4_Frame_Shift_Del_p.KQ175fs|BCOR_ENST00000397354.3_Frame_Shift_Del_p.KQ175fs|BCOR_ENST00000378444.4_Frame_Shift_Del_p.KQ175fs NM_001123383.1 NP_001116855.1 Q6W2J9 BCOR_HUMAN BCL6 corepressor 175 heart development|histone H2A monoubiquitination|negative regulation of bone mineralization|negative regulation of histone H3-K36 methylation|negative regulation of histone H3-K4 methylation|negative regulation of tooth mineralization|negative regulation of transcription from RNA polymerase II promoter|odontogenesis|palate development|specification of axis polarity|transcription, DNA-dependent nucleus heat shock protein binding|histone deacetylase binding|transcription corepressor activity|transcription factor binding|transcription regulatory region DNA binding breast(4)|central_nervous_system(11)|cervix(1)|endometrium(24)|eye(6)|haematopoietic_and_lymphoid_tissue(33)|kidney(2)|large_intestine(11)|lung(22)|ovary(2)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(2) 126 GAGAGGGCTCTGTTTGTCGCTGGC 0.539 """F, N, S, T""" RARA """retinoblastoma, AML, APL(translocation)""" oculo-facio-cardio-dental genetic 7 80 --- --- --- ---