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 CUBN 8029 broad.mit.edu 37 10 16970247 16970247 + Silent SNP C C A TCGA-IB-7647-01A-11D-2154-08 TCGA-IB-7647-10A-01D-2154-08 Untested Somatic Phase_I WXS none Illumina GAIIx d2579415-7e40-48ba-a59c-e5543b8097dc fae3bedd-75e3-4f2a-86fa-c7e2c4dd4880 g.chr10:16970247C>A ENST00000377833.4 - 41 6245 c.6180G>T c.(6178-6180)ggG>ggT p.G2060G NM_001081.3 NP_001072.2 O60494 CUBN_HUMAN cubilin (intrinsic factor-cobalamin receptor) 2060 CUB 14. cholesterol metabolic process|cobalamin transport|hormone biosynthetic process|lipoprotein metabolic process|receptor-mediated endocytosis|tissue homeostasis|vitamin D metabolic process brush border membrane|cytosol|endosome membrane|extrinsic to external side of plasma membrane|lysosomal lumen|lysosomal membrane calcium ion binding|cobalamin binding|protein homodimerization activity|receptor activity|transporter activity breast(8)|central_nervous_system(4)|cervix(1)|endometrium(18)|haematopoietic_and_lymphoid_tissue(3)|kidney(12)|large_intestine(42)|liver(1)|lung(107)|ovary(9)|pancreas(2)|prostate(3)|skin(9)|stomach(3)|upper_aerodigestive_tract(11)|urinary_tract(8) 241 Cyanocobalamin(DB00115)|Hydroxocobalamin(DB00200) ACCGGATGGGCCCAGGGATCT 0.478000 9 289 0.00448238 0.00450906 1 1 0 RTN4RL1 146760 broad.mit.edu 37 17 1840990 1840990 + Silent SNP C C T TCGA-IB-7647-01A-11D-2154-08 TCGA-IB-7647-10A-01D-2154-08 Untested Somatic Phase_I WXS none Illumina GAIIx d2579415-7e40-48ba-a59c-e5543b8097dc fae3bedd-75e3-4f2a-86fa-c7e2c4dd4880 g.chr17:1840990C>T ENST00000331238.5 - 2 144 c.126G>A c.(124-126)gcG>gcA p.A42A NM_178568.2 NP_848663.1 Q86UN2 R4RL1_HUMAN reticulon 4 receptor-like 1 42 LRRNT. axon regeneration anchored to plasma membrane receptor activity breast(1)|endometrium(4)|kidney(1)|large_intestine(2)|prostate(2)|skin(1) 11 CAAAGTTGTGCGCCTGGCAGC 0.672000 18 87 0 0 1 0 0 IGSF10 285313 broad.mit.edu 37 3 151155325 151155325 + Missense_Mutation SNP G G C TCGA-IB-7647-01A-11D-2154-08 TCGA-IB-7647-10A-01D-2154-08 Untested Somatic Phase_I WXS none Illumina GAIIx d2579415-7e40-48ba-a59c-e5543b8097dc fae3bedd-75e3-4f2a-86fa-c7e2c4dd4880 g.chr3:151155325G>C ENST00000282466.3 - 6 7023 c.7024C>G c.(7024-7026)Cca>Gca p.P2342A IGSF10_ENST00000495443.1_5'UTR NM_001178145.1|NM_001178146.1|NM_178822.4 NP_001171616.1|NP_001171617.1|NP_849144.2 Q6WRI0 IGS10_HUMAN immunoglobulin superfamily, member 10 2342 Ig-like C2-type 10. cell differentiation|multicellular organismal development|ossification extracellular region NS(1)|breast(1)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(24)|liver(4)|lung(43)|ovary(8)|prostate(4)|skin(9)|stomach(1)|urinary_tract(3) 116 LUSC - Lung squamous cell carcinoma(72;0.0394)|Lung(72;0.0517) TCATTAAATGGATTTCTAAAT 0.423000 30 881 0 0 1 0 0 HMGB3 3149 broad.mit.edu 37 X 150156360 150156360 + Silent SNP G G A TCGA-IB-7647-01A-11D-2154-08 TCGA-IB-7647-10A-01D-2154-08 Untested Somatic Phase_I WXS none Illumina GAIIx d2579415-7e40-48ba-a59c-e5543b8097dc fae3bedd-75e3-4f2a-86fa-c7e2c4dd4880 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 8 223 0 0 1 0 0 LUC7L3 51747 broad.mit.edu 37 17 48821167 48821167 + Missense_Mutation SNP C C T TCGA-IB-7647-01A-11D-2154-08 TCGA-IB-7647-10A-01D-2154-08 Untested Somatic Phase_I WXS none Illumina GAIIx d2579415-7e40-48ba-a59c-e5543b8097dc fae3bedd-75e3-4f2a-86fa-c7e2c4dd4880 g.chr17:48821167C>T ENST00000505658.1 + 6 716 c.527C>T c.(526-528)aCg>aTg p.T176M LUC7L3_ENST00000393227.2_Missense_Mutation_p.T176M|LUC7L3_ENST00000240304.1_Missense_Mutation_p.T176M|LUC7L3_ENST00000544170.1_Missense_Mutation_p.T100M O95232 LC7L3_HUMAN LUC7-like 3 (S. cerevisiae) 176 apoptosis|mRNA processing|response to stress|RNA splicing focal adhesion|nuclear speck DNA binding|mRNA binding|protein binding endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(7)|prostate(1) 12 AGGTCCACAACGTCGGTGAGT 0.368000 36 246 0 0 1 0 0 OR2L13 284521 broad.mit.edu 37 1 248262826 248262826 + Missense_Mutation SNP T T G TCGA-IB-7647-01A-11D-2154-08 TCGA-IB-7647-10A-01D-2154-08 Untested Somatic Phase_I WXS none Illumina GAIIx d2579415-7e40-48ba-a59c-e5543b8097dc fae3bedd-75e3-4f2a-86fa-c7e2c4dd4880 g.chr1:248262826T>G ENST00000366478.2 + 3 486 c.149T>G c.(148-150)gTg>gGg p.V50G OR2L13_ENST00000358120.2_Missense_Mutation_p.V50G NM_175911.2 NP_787107.1 Q8N349 OR2LD_HUMAN olfactory receptor, family 2, subfamily L, member 13 50 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity|protein binding NS(1)|breast(1)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(12)|lung(32)|ovary(1)|skin(3)|upper_aerodigestive_tract(1) 59 all_cancers(71;0.000149)|all_epithelial(71;1.27e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136) OV - Ovarian serous cystadenocarcinoma(106;0.0132) CTCATCCACGTGGATCCTCGT 0.502000 29 732 0 0 1 0 0 SMG1 23049 broad.mit.edu 37 16 18887699 18887699 + Missense_Mutation SNP T T C TCGA-IB-7647-01A-11D-2154-08 TCGA-IB-7647-10A-01D-2154-08 Untested Somatic Phase_I WXS none Illumina GAIIx d2579415-7e40-48ba-a59c-e5543b8097dc fae3bedd-75e3-4f2a-86fa-c7e2c4dd4880 g.chr16:18887699T>C ENST00000446231.2 - 13 2049 c.1637A>G c.(1636-1638)cAt>cGt p.H546R SMG1_ENST00000389467.3_Missense_Mutation_p.H546R|SMG1_ENST00000565224.1_Missense_Mutation_p.H520R Q96Q15 SMG1_HUMAN SMG1 phosphatidylinositol 3-kinase-related kinase 546 Interaction with SMG8 and SMG9. H -> R. DNA repair|mRNA export from nucleus|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay|peptidyl-serine phosphorylation|phosphatidylinositol phosphorylation|protein autophosphorylation cytoplasm|nucleus ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity p.H542R(2)|p.H546R(1) NS(2)|breast(8)|cervix(2)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(16)|lung(37)|ovary(1)|skin(1)|stomach(4)|urinary_tract(1) 92 ATAAACAGCATGGGCTACAGC 0.333000 8 140 0 0 1 0 0 ERCC2 2068 broad.mit.edu 37 19 45854888 45854888 + Nonstop_Mutation SNP C C G TCGA-IB-7647-01A-11D-2154-08 TCGA-IB-7647-10A-01D-2154-08 Untested Somatic Phase_I WXS none Illumina GAIIx d2579415-7e40-48ba-a59c-e5543b8097dc fae3bedd-75e3-4f2a-86fa-c7e2c4dd4880 g.chr19:45854888C>G ENST00000391945.4 - 23 2359 c.2282G>C c.(2281-2283)tGa>tCa p.*761S ERCC2_ENST00000391944.3_Nonstop_Mutation_p.*683S NM_000400.3 NP_000391.1 P18074 ERCC2_HUMAN excision repair cross-complementing rodent repair deficiency, complementation group 2 0 cell cycle checkpoint|chromosome segregation|hair cell differentiation|induction of apoptosis|interspecies interaction between organisms|mRNA capping|nucleotide-excision repair, DNA damage removal|nucleotide-excision repair, DNA incision|positive regulation of transcription from RNA polymerase II promoter|positive regulation of viral transcription|protein phosphorylation|response to oxidative stress|termination of RNA polymerase I transcription|transcription elongation from RNA polymerase I promoter|transcription elongation from RNA polymerase II promoter|transcription initiation from RNA polymerase I promoter|transcription initiation from RNA polymerase II promoter|transcription-coupled nucleotide-excision repair|UV protection|viral reproduction cytoplasm|holo TFIIH complex|MMXD complex 5'-3' DNA helicase activity|ATP binding|ATP-dependent DNA helicase activity|DNA binding|iron-sulfur cluster binding|metal ion binding|protein C-terminus binding|protein N-terminus binding large_intestine(4)|lung(2)|ovary(1)|pancreas(1)|stomach(1) 9 Ovarian(192;0.0728)|all_neural(266;0.112) OV - Ovarian serous cystadenocarcinoma(262;0.0226) CCGCCCCACTCAGAGCTGCTG 0.592000 """Mis, N, F, S""" """skin basal cell, skin squamous cell, melanoma""" Nucleotide excision repair (NER) Xeroderma Pigmentosum 97 1081 0 0 1 0 0 ANKK1 255239 broad.mit.edu 37 11 113270777 113270777 + Missense_Mutation SNP G G A rs146480879 by1000genomes TCGA-IB-7647-01A-11D-2154-08 TCGA-IB-7647-10A-01D-2154-08 Untested Somatic Phase_I WXS none Illumina GAIIx d2579415-7e40-48ba-a59c-e5543b8097dc fae3bedd-75e3-4f2a-86fa-c7e2c4dd4880 g.chr11:113270777G>A ENST00000303941.3 + 8 2180 c.2086G>A c.(2086-2088)Gcc>Acc p.A696T NM_178510.1 NP_848605.1 Q8NFD2 ANKK1_HUMAN ankyrin repeat and kinase domain containing 1 696 ATP binding|protein serine/threonine kinase activity NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(3)|liver(2)|lung(14)|ovary(1)|stomach(1) 29 all_cancers(61;1.53e-11)|all_epithelial(67;3e-06)|Melanoma(852;4.04e-05)|all_hematologic(158;0.000315)|Acute lymphoblastic leukemia(157;0.000966)|Breast(348;0.0461)|Medulloblastoma(222;0.0523)|all_neural(223;0.0663)|Prostate(24;0.194) BRCA - Breast invasive adenocarcinoma(274;4.82e-06)|Epithelial(105;5.41e-05)|all cancers(92;0.000442)|OV - Ovarian serous cystadenocarcinoma(223;0.238) CTGGACACCCGCCCACCTGGC 0.632000 7 177 0 0 1 0 0 TAS2R31 259290 broad.mit.edu 37 12 11183165 11183165 + Missense_Mutation SNP T T C TCGA-IB-7647-01A-11D-2154-08 TCGA-IB-7647-10A-01D-2154-08 Untested Somatic Phase_I WXS none Illumina GAIIx d2579415-7e40-48ba-a59c-e5543b8097dc fae3bedd-75e3-4f2a-86fa-c7e2c4dd4880 g.chr12:11183165T>C ENST00000390675.2 - 1 841 c.770A>G c.(769-771)aAc>aGc p.N257S TAS2R14_ENST00000381852.4_Intron|PRR4_ENST00000536668.1_Intron NM_176885.2 NP_795366.2 P59538 T2R31_HUMAN taste receptor, type 2, member 31 257 sensory perception of taste integral to membrane G-protein coupled receptor activity kidney(1)|lung(6) 7 GACAGGTTTGTTTTCCAGACT 0.383000 21 1431 0 0 1 0 0 KLHL1 57626 broad.mit.edu 37 13 70281775 70281775 + Silent SNP T T C TCGA-IB-7647-01A-11D-2154-08 TCGA-IB-7647-10A-01D-2154-08 Untested Somatic Phase_I WXS none Illumina GAIIx d2579415-7e40-48ba-a59c-e5543b8097dc fae3bedd-75e3-4f2a-86fa-c7e2c4dd4880 g.chr13:70281775T>C ENST00000377844.4 - 10 2928 c.2169A>G c.(2167-2169)caA>caG p.Q723Q KLHL1_ENST00000545028.1_Silent_p.Q530Q NM_020866.2 NP_065917.1 Q9NR64 KLHL1_HUMAN kelch-like family member 1 723 actin cytoskeleton organization cytoplasm|cytoskeleton actin binding breast(1)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(11)|lung(56)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(4)|urinary_tract(1) 84 Breast(118;0.000162) COAD - Colon adenocarcinoma(199;0.000193)|GBM - Glioblastoma multiforme(99;0.000211) ACTCATTAGTTTGTGGGTCAT 0.413000 8 355 0 0 1 0 0 PPP1R9A 55607 broad.mit.edu 37 7 94740662 94740662 + Missense_Mutation SNP G G A TCGA-IB-7647-01A-11D-2154-08 TCGA-IB-7647-10A-01D-2154-08 Untested Somatic Phase_I WXS none Illumina GAIIx d2579415-7e40-48ba-a59c-e5543b8097dc fae3bedd-75e3-4f2a-86fa-c7e2c4dd4880 g.chr7:94740662G>A ENST00000289495.5 + 2 1703 c.1487G>A c.(1486-1488)cGt>cAt p.R496H PPP1R9A_ENST00000433360.1_Missense_Mutation_p.R496H|PPP1R9A_ENST00000433881.1_Missense_Mutation_p.R496H|PPP1R9A_ENST00000456331.2_Missense_Mutation_p.R496H|PPP1R9A_ENST00000340694.4_Missense_Mutation_p.R496H|PPP1R9A_ENST00000424654.1_Missense_Mutation_p.R496H NM_001166161.1 NP_001159633.1 Q9ULJ8 NEB1_HUMAN protein phosphatase 1, regulatory subunit 9A 496 Interacts with protein phosphatase 1 (By similarity). cell junction|synapse|synaptosome actin binding breast(3)|central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(4)|kidney(3)|large_intestine(11)|liver(2)|lung(22)|ovary(2)|prostate(1)|skin(4)|upper_aerodigestive_tract(8)|urinary_tract(5) 71 all_cancers(62;9.12e-11)|all_epithelial(64;4.34e-09) STAD - Stomach adenocarcinoma(171;0.0031) CTTGAAAAACGTGTAGAAAAG 0.383000 HNSCC(28;0.073) 16 294 0 0 1 0 0 ZNF845 91664 broad.mit.edu 37 19 53856702 53856702 + Missense_Mutation SNP G G A rs150688663 by1000genomes TCGA-IB-7647-01A-11D-2154-08 TCGA-IB-7647-10A-01D-2154-08 Untested Somatic Phase_I WXS none Illumina GAIIx d2579415-7e40-48ba-a59c-e5543b8097dc fae3bedd-75e3-4f2a-86fa-c7e2c4dd4880 g.chr19:53856702G>A ENST00000458035.1 + 4 2891 c.2774G>A c.(2773-2775)cGt>cAt p.R925H ZNF845_ENST00000595091.1_Missense_Mutation_p.R925H NM_138374.1 NP_612383.1 Q96IR2 ZN845_HUMAN zinc finger protein 845 925 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding p.R925H(3) endometrium(2)|kidney(10)|lung(7)|pancreas(1)|prostate(1)|skin(2)|stomach(1)|urinary_tract(2) 26 AAAACCTTCCGTCACAATTCA 0.363000 6 219 0 0 1 0 0 ST8SIA6 338596 broad.mit.edu 37 10 17363212 17363212 + Missense_Mutation SNP C C T TCGA-IB-7647-01A-11D-2154-08 TCGA-IB-7647-10A-01D-2154-08 Untested Somatic Phase_I WXS none Illumina GAIIx d2579415-7e40-48ba-a59c-e5543b8097dc fae3bedd-75e3-4f2a-86fa-c7e2c4dd4880 g.chr10:17363212C>T ENST00000377602.4 - 8 936 c.862G>A c.(862-864)Gaa>Aaa p.E288K NM_001004470.1 NP_001004470.1 P61647 SIA8F_HUMAN ST8 alpha-N-acetyl-neuraminide alpha-2,8-sialyltransferase 6 288 post-translational protein modification|protein N-linked glycosylation via asparagine integral to Golgi membrane alpha-N-acetylneuraminate alpha-2,8-sialyltransferase activity endometrium(3)|kidney(3)|large_intestine(4)|liver(1)|lung(24)|ovary(1)|skin(1) 37 TTAGACTCTTCGAGCGTGTAG 0.443000 28 1139 0 0 1 0 0 CACNA1E 777 broad.mit.edu 37 1 181732595 181732595 + Silent SNP C C T TCGA-IB-7647-01A-11D-2154-08 TCGA-IB-7647-10A-01D-2154-08 Untested Somatic Phase_I WXS none Illumina GAIIx d2579415-7e40-48ba-a59c-e5543b8097dc fae3bedd-75e3-4f2a-86fa-c7e2c4dd4880 g.chr1:181732595C>T ENST00000526775.1 + 33 4851 c.4686C>T c.(4684-4686)gcC>gcT p.A1562A CACNA1E_ENST00000367573.2_Silent_p.A1581A|CACNA1E_ENST00000367570.1_Silent_p.A1581A|CACNA1E_ENST00000367567.4_Silent_p.A1188A|CACNA1E_ENST00000357570.5_Silent_p.A1532A|CACNA1E_ENST00000360108.3_Silent_p.A1562A|CACNA1E_ENST00000358338.5_Silent_p.A1513A NM_001205294.1 NP_001192223.1 Q15878 CAC1E_HUMAN calcium channel, voltage-dependent, R type, alpha 1E subunit 1581 energy reserve metabolic process|membrane depolarization|synaptic transmission voltage-gated calcium channel complex voltage-gated calcium channel activity NS(2)|breast(9)|central_nervous_system(3)|cervix(1)|endometrium(22)|haematopoietic_and_lymphoid_tissue(6)|kidney(4)|large_intestine(34)|lung(99)|ovary(6)|pancreas(1)|prostate(9)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2) 204 TCCGAGCTGCCCGCCTCATAA 0.463000 8 279 0 0 1 0 0 HMGN2P46 0 broad.mit.edu 37 15 45848224 45848224 + RNA SNP G G T TCGA-IB-7647-01A-11D-2154-08 TCGA-IB-7647-10A-01D-2154-08 Untested Somatic Phase_I WXS none Illumina GAIIx d2579415-7e40-48ba-a59c-e5543b8097dc fae3bedd-75e3-4f2a-86fa-c7e2c4dd4880 g.chr15:45848224G>T ENST00000409454.1 + 0 1219 TGCAGATTTTGTTTAGCTTTT 0.318000 27 128 1.03484e-13 1.12107e-13 1 1 0 NKX2-2 4821 broad.mit.edu 37 20 21492879 21492879 + Silent SNP C C T TCGA-IB-7647-01A-11D-2154-08 TCGA-IB-7647-10A-01D-2154-08 Untested Somatic Phase_I WXS none Illumina GAIIx d2579415-7e40-48ba-a59c-e5543b8097dc fae3bedd-75e3-4f2a-86fa-c7e2c4dd4880 g.chr20:21492879C>T ENST00000377142.4 - 2 860 c.504G>A c.(502-504)acG>acA p.T168T NKX2-2-AS1_ENST00000549659.1_RNA NM_002509.3 NP_002500.1 O95096 NKX22_HUMAN NK2 homeobox 2 168 brain development|positive regulation of sequence-specific DNA binding transcription factor activity nucleus chromatin binding|core promoter proximal region DNA binding|transcription coactivator activity endometrium(2)|kidney(2)|large_intestine(2)|lung(10)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1) 21 CCTGCGTGGGCGTGAGGCGGA 0.677000 22 166 0 0 1 0 0 CSNK2A1 1457 broad.mit.edu 37 20 470440 470440 + Missense_Mutation SNP T T C rs61730060 TCGA-IB-7647-01A-11D-2154-08 TCGA-IB-7647-10A-01D-2154-08 Untested Somatic Phase_I WXS none Illumina GAIIx d2579415-7e40-48ba-a59c-e5543b8097dc fae3bedd-75e3-4f2a-86fa-c7e2c4dd4880 g.chr20:470440T>C ENST00000217244.3 - 10 1082 c.707A>G c.(706-708)cAt>cGt p.H236R CSNK2A1_ENST00000400217.1_Missense_Mutation_p.H100R|CSNK2A1_ENST00000349736.5_Missense_Mutation_p.H236R|CSNK2A1_ENST00000400227.3_Missense_Mutation_p.H236R|CSNK2A1_ENST00000460062.1_5'UTR NM_177559.2 NP_808227.1 P68400 CSK21_HUMAN casein kinase 2, alpha 1 polypeptide 236 Protein kinase. axon guidance|Wnt receptor signaling pathway cytosol|NuRD complex|plasma membrane|Sin3 complex ATP binding|protein N-terminus binding|protein serine/threonine kinase activity p.H236R(2) autonomic_ganglia(1)|central_nervous_system(2)|endometrium(1)|large_intestine(4)|lung(5)|ovary(1)|prostate(2)|urinary_tract(1) 17 Breast(17;0.231) OV - Ovarian serous cystadenocarcinoma(29;0.0969) ATAATTGTCATGTCCATGGAA 0.373000 8 319 0 0 1 0 0 SDHAP1 0 broad.mit.edu 37 3 195698264 195698264 + RNA SNP T T C rs12485654 by1000genomes TCGA-IB-7647-01A-11D-2154-08 TCGA-IB-7647-10A-01D-2154-08 Untested Somatic Phase_I WXS none Illumina GAIIx d2579415-7e40-48ba-a59c-e5543b8097dc fae3bedd-75e3-4f2a-86fa-c7e2c4dd4880 g.chr3:195698264T>C ENST00000427841.1 - 0 1608 NR_003264.2 TTTGTCAACATTCGTGACAGA 0.413000 6 344 0 0 1 0 0 MLLT3 4300 broad.mit.edu 37 9 20414373 20414373 + Silent SNP G G A TCGA-IB-7647-01A-11D-2154-08 TCGA-IB-7647-10A-01D-2154-08 Untested Somatic Phase_I WXS none Illumina GAIIx d2579415-7e40-48ba-a59c-e5543b8097dc fae3bedd-75e3-4f2a-86fa-c7e2c4dd4880 g.chr9:20414373G>A ENST00000380338.4 - 5 757 c.471C>T c.(469-471)agC>agT p.S157S MLLT3_ENST00000475957.1_5'UTR|MLLT3_ENST00000429426.2_Silent_p.S154S|MLLT3_ENST00000355930.6_5'UTR NM_004529.2 NP_004520.2 P42568 AF9_HUMAN myeloid/lymphoid or mixed-lineage leukemia (trithorax homolog, Drosophila); translocated to, 3 157 Poly-Ser. regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus protein binding p.S157S(5) 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) tgctgctgctgctactgctgc 0.527000 T MLL ALL 8 339 0 0 1 0 0 PIK3CA 5290 broad.mit.edu 37 3 178948163 178948163 + Splice_Site SNP A A G TCGA-IB-7647-01A-11D-2154-08 TCGA-IB-7647-10A-01D-2154-08 Untested Somatic Phase_I WXS none Illumina GAIIx d2579415-7e40-48ba-a59c-e5543b8097dc fae3bedd-75e3-4f2a-86fa-c7e2c4dd4880 g.chr3:178948163A>G ENST00000263967.3 + 20 3092 c.2936_splice c.e20+1 p.R979_splice NM_006218.2 NP_006209.2 P42336 PK3CA_HUMAN phosphatidylinositol-4,5-bisphosphate 3-kinase, catalytic subunit alpha 979 PI3K/PI4K. epidermal growth factor receptor signaling pathway|fibroblast growth factor receptor signaling pathway|insulin receptor signaling pathway|leukocyte migration|nerve growth factor receptor signaling pathway|phosphatidylinositol-mediated signaling|platelet activation|T cell costimulation|T cell receptor signaling pathway 1-phosphatidylinositol-3-kinase activity|ATP binding|phosphatidylinositol-4,5-bisphosphate 3-kinase activity NS(16)|autonomic_ganglia(4)|biliary_tract(22)|bone(1)|breast(2150)|central_nervous_system(110)|cervix(33)|endometrium(473)|eye(1)|haematopoietic_and_lymphoid_tissue(35)|kidney(14)|large_intestine(1202)|liver(42)|lung(202)|meninges(1)|oesophagus(28)|ovary(235)|pancreas(17)|penis(8)|pituitary(12)|prostate(10)|skin(155)|small_intestine(1)|soft_tissue(18)|stomach(121)|thyroid(80)|upper_aerodigestive_tract(70)|urinary_tract(208) 5269 all_cancers(143;1.19e-17)|Ovarian(172;0.00769)|Breast(254;0.155) OV - Ovarian serous cystadenocarcinoma(80;9.59e-28)|GBM - Glioblastoma multiforme(14;0.003)|BRCA - Breast invasive adenocarcinoma(182;0.0282) AGAATTTGAGAGGTGAGCTCG 0.338000 57 Mis """colorectal, gastric, gliobastoma, breast""" HNSCC(19;0.045)|TSP Lung(28;0.18) 63 426 0 0 1 0 0 NCOA6 23054 broad.mit.edu 37 20 33345744 33345744 + Silent SNP C C T TCGA-IB-7647-01A-11D-2154-08 TCGA-IB-7647-10A-01D-2154-08 Untested Somatic Phase_I WXS none Illumina GAIIx d2579415-7e40-48ba-a59c-e5543b8097dc fae3bedd-75e3-4f2a-86fa-c7e2c4dd4880 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 12 242 0 0 1 0 0 EXOSC8 11340 broad.mit.edu 37 13 37576427 37576427 + Missense_Mutation SNP A A G TCGA-IB-7647-01A-11D-2154-08 TCGA-IB-7647-10A-01D-2154-08 Untested Somatic Phase_I WXS none Illumina GAIIx d2579415-7e40-48ba-a59c-e5543b8097dc fae3bedd-75e3-4f2a-86fa-c7e2c4dd4880 g.chr13:37576427A>G ENST00000389704.3 + 2 300 c.35A>G c.(34-36)gAg>gGg p.E12G EXOSC8_ENST00000489088.1_3'UTR NM_181503.2 NP_852480.1 Q96B26 EXOS8_HUMAN exosome component 8 12 exonucleolytic nuclear-transcribed mRNA catabolic process involved in deadenylation-dependent decay|rRNA processing cytosol|exosome (RNase complex)|nucleolus AU-rich element binding|identical protein binding biliary_tract(1)|breast(1)|kidney(2)|pancreas(1)|prostate(1)|skin(1) 7 Lung NSC(96;6.57e-05)|Breast(139;0.0615)|Lung SC(185;0.0743)|Prostate(109;0.184) all cancers(112;3.67e-07)|Epithelial(112;1.31e-05)|OV - Ovarian serous cystadenocarcinoma(117;0.00699)|BRCA - Breast invasive adenocarcinoma(63;0.0117)|GBM - Glioblastoma multiforme(144;0.0411) GAACCTCTGGAGTATTACAGG 0.323000 14 486 0 0 1 0 0 COX7B2 170712 broad.mit.edu 37 4 46736995 46736995 + Missense_Mutation SNP C C T TCGA-IB-7647-01A-11D-2154-08 TCGA-IB-7647-10A-01D-2154-08 Untested Somatic Phase_I WXS none Illumina GAIIx d2579415-7e40-48ba-a59c-e5543b8097dc fae3bedd-75e3-4f2a-86fa-c7e2c4dd4880 g.chr4:46736995C>T ENST00000396533.1 - 4 465 c.215G>A c.(214-216)aGa>aAa p.R72K COX7B2_ENST00000543208.1_Missense_Mutation_p.R71K|COX7B2_ENST00000355591.3_Missense_Mutation_p.R72K|COX7B2_ENST00000302930.5_Missense_Mutation_p.R72K Q8TF08 CX7B2_HUMAN cytochrome c oxidase subunit VIIb2 72 integral to membrane|mitochondrial respiratory chain cytochrome-c oxidase activity p.R71I(1) large_intestine(1)|lung(4) 5 TGGGGTAACTCTGCCAACAGG 0.428000 9 394 0 0 1 0 0 PPP1R32 220004 broad.mit.edu 37 11 61252241 61252241 + Missense_Mutation SNP C C T TCGA-IB-7647-01A-11D-2154-08 TCGA-IB-7647-10A-01D-2154-08 Untested Somatic Phase_I WXS none Illumina GAIIx d2579415-7e40-48ba-a59c-e5543b8097dc fae3bedd-75e3-4f2a-86fa-c7e2c4dd4880 g.chr11:61252241C>T ENST00000338608.2 + 5 588 c.463C>T c.(463-465)Cac>Tac p.H155Y RP11-286N22.8_ENST00000544880.1_3'UTR|PPP1R32_ENST00000432063.2_Missense_Mutation_p.H155Y NM_145017.2 NP_659454.2 Q7Z5V6 CK066_HUMAN protein phosphatase 1, regulatory subunit 32 155 H -> R (in Ref. 1; BAB71432). GCCTCTGCTCCACCAGCAGCA 0.677000 4 62 0 0 1 0 0 DBC1 0 broad.mit.edu 37 9 121929366 121929366 + Missense_Mutation SNP C C A TCGA-IB-7647-01A-11D-2154-08 TCGA-IB-7647-10A-01D-2154-08 Untested Somatic Phase_I WXS none Illumina GAIIx d2579415-7e40-48ba-a59c-e5543b8097dc fae3bedd-75e3-4f2a-86fa-c7e2c4dd4880 g.chr9:121929366C>A ENST00000265922.3 - 8 2743 c.2282G>T c.(2281-2283)tGc>tTc p.C761F DBC1_ENST00000482797.1_Intron NM_014618.2 NP_055433.2 O60477 DBC1_HUMAN 761 cell cycle arrest|cell death cytoplasm protein binding p.C761Y(1) NS(1)|breast(3)|central_nervous_system(3)|endometrium(8)|kidney(2)|large_intestine(15)|liver(1)|lung(34)|ovary(3)|prostate(3)|skin(4)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(1) 83 CCCGGGTTAGCAGAGTTTGGC 0.453000 10 833 0.000442599 0.000453329 1 1 0 AQP8 343 broad.mit.edu 37 16 25232853 25232853 + Silent SNP G G A TCGA-IB-7647-01A-11D-2154-08 TCGA-IB-7647-10A-01D-2154-08 Untested Somatic Phase_I WXS none Illumina GAIIx d2579415-7e40-48ba-a59c-e5543b8097dc fae3bedd-75e3-4f2a-86fa-c7e2c4dd4880 g.chr16:25232853G>A ENST00000219660.5 + 3 461 c.336G>A c.(334-336)ccG>ccA p.P112P AQP8_ENST00000566125.1_Silent_p.P106P NM_001169.2 NP_001160.2 O94778 AQP8_HUMAN aquaporin 8 112 cellular response to cAMP integral to plasma membrane water channel activity NS(1)|breast(1)|large_intestine(3)|lung(8)|pancreas(1)|stomach(1)|upper_aerodigestive_tract(1) 16 GBM - Glioblastoma multiforme(48;0.044) TGCTCCTCCCGTACTGGGTCT 0.627000 7 457 0 0 1 0 0 GDE1 51573 broad.mit.edu 37 16 19528371 19528371 + Silent SNP A A T TCGA-IB-7647-01A-11D-2154-08 TCGA-IB-7647-10A-01D-2154-08 Untested Somatic Phase_I WXS none Illumina GAIIx d2579415-7e40-48ba-a59c-e5543b8097dc fae3bedd-75e3-4f2a-86fa-c7e2c4dd4880 g.chr16:19528371A>T ENST00000353258.3 - 2 582 c.402T>A c.(400-402)atT>atA p.I134I NM_016641.3 NP_057725.1 Q9NZC3 GDE1_HUMAN glycerophosphodiester phosphodiesterase 1 134 GDPD. glycerol metabolic process|lipid metabolic process cytoplasm|integral to membrane glycerophosphodiester phosphodiesterase activity|glycerophosphoinositol glycerophosphodiesterase activity|metal ion binding central_nervous_system(1)|endometrium(2)|large_intestine(1)|lung(6)|ovary(2)|prostate(1) 13 TCAGCTTCCTAATTTGTTCAA 0.408000 69 577 0 0 1 0 0 ACOT11 26027 broad.mit.edu 37 1 55062956 55062956 + Missense_Mutation SNP G G A TCGA-IB-7647-01A-11D-2154-08 TCGA-IB-7647-10A-01D-2154-08 Untested Somatic Phase_I WXS none Illumina GAIIx d2579415-7e40-48ba-a59c-e5543b8097dc fae3bedd-75e3-4f2a-86fa-c7e2c4dd4880 g.chr1:55062956G>A ENST00000371316.3 + 7 714 c.632G>A c.(631-633)cGc>cAc p.R211H ACOT11_ENST00000481208.1_3'UTR|ACOT11_ENST00000343744.2_Missense_Mutation_p.R211H NM_015547.3 NP_056362.1 Q8WXI4 ACO11_HUMAN acyl-CoA thioesterase 11 211 Acyl coenzyme A hydrolase 2. fatty acid metabolic process|intracellular signal transduction|response to cold acyl-CoA thioesterase activity|carboxylesterase activity p.R211H(2) NS(1)|central_nervous_system(1)|endometrium(6)|large_intestine(3)|lung(5)|ovary(1) 17 GACTGTAGCCGCATGGTGCCG 0.627000 6 173 0 0 1 0 0 HSD17B7P2 0 broad.mit.edu 37 10 38654432 38654432 + RNA SNP A A G rs2257765 TCGA-IB-7647-01A-11D-2154-08 TCGA-IB-7647-10A-01D-2154-08 Untested Somatic Phase_I WXS none Illumina GAIIx d2579415-7e40-48ba-a59c-e5543b8097dc fae3bedd-75e3-4f2a-86fa-c7e2c4dd4880 g.chr10:38654432A>G ENST00000494540.1 + 0 599 NR_003086.1 TCATCTCGCAATGCAAGGAAA 0.453000 9 302 0 0 1 0 0 DDX11 1663 broad.mit.edu 37 12 31237922 31237922 + Missense_Mutation SNP G G C TCGA-IB-7647-01A-11D-2154-08 TCGA-IB-7647-10A-01D-2154-08 Untested Somatic Phase_I WXS none Illumina GAIIx d2579415-7e40-48ba-a59c-e5543b8097dc fae3bedd-75e3-4f2a-86fa-c7e2c4dd4880 g.chr12:31237922G>C ENST00000251758.5 + 5 751 c.500G>C c.(499-501)aGa>aCa p.R167T DDX11_ENST00000350437.4_Missense_Mutation_p.R167T|DDX11_ENST00000407793.2_Missense_Mutation_p.R167T|DDX11_ENST00000228264.6_Missense_Mutation_p.R141T|DDX11_ENST00000542838.1_Missense_Mutation_p.R167T|DDX11_ENST00000545668.1_Missense_Mutation_p.R167T Q96FC9 DDX11_HUMAN DEAD/H (Asp-Glu-Ala-Asp/His) box helicase 11 167 Glu-rich.|Helicase ATP-binding. G2/M transition of mitotic cell cycle|interspecies interaction between organisms|mitotic sister chromatid segregation|positive regulation of cell proliferation|S phase of mitotic cell cycle|sister chromatid cohesion midbody|nuclear chromatin|nucleolus|spindle pole ATP binding|ATP-dependent DNA helicase activity|DNA binding|protein binding|RNA binding p.R167T(11) breast(4)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(11)|large_intestine(5)|lung(23)|prostate(3)|skin(2)|stomach(1)|upper_aerodigestive_tract(2) 57 all_cancers(9;1.77e-11)|all_lung(12;6.21e-11)|all_epithelial(9;6.49e-11)|Lung NSC(12;1.06e-08)|Acute lymphoblastic leukemia(23;0.0122)|all_hematologic(23;0.0429)|Lung SC(12;0.0592)|Esophageal squamous(101;0.233) GAAGAAGAAAGAGAGAATCTC 0.612000 Multiple Myeloma(12;0.14) 5 75 0 0 1 0 0 AKAP11 11215 broad.mit.edu 37 13 42873717 42873717 + Missense_Mutation SNP A A T TCGA-IB-7647-01A-11D-2154-08 TCGA-IB-7647-10A-01D-2154-08 Untested Somatic Phase_I WXS none Illumina GAIIx d2579415-7e40-48ba-a59c-e5543b8097dc fae3bedd-75e3-4f2a-86fa-c7e2c4dd4880 g.chr13:42873717A>T ENST00000025301.2 + 8 1010 c.835A>T c.(835-837)Agg>Tgg p.R279W NM_016248.3 NP_057332.1 Q9UKA4 AKA11_HUMAN A kinase (PRKA) anchor protein 11 279 Ser-rich. intracellular protein kinase cascade microtubule organizing center protein kinase A binding|protein phosphatase 1 binding breast(3)|central_nervous_system(4)|cervix(1)|endometrium(6)|kidney(3)|large_intestine(10)|liver(1)|lung(22)|ovary(1)|skin(3)|stomach(2) 56 Lung NSC(96;1.86e-05)|Prostate(109;0.0165)|Lung SC(185;0.0262)|Breast(139;0.0707)|Hepatocellular(98;0.114) OV - Ovarian serous cystadenocarcinoma(117;0.000365)|GBM - Glioblastoma multiforme(144;0.00116)|BRCA - Breast invasive adenocarcinoma(63;0.19) TTGGACCCAAAGGAGTTTCTA 0.393000 16 671 0 0 1 0 0 TTN 7273 broad.mit.edu 37 2 179641506 179641506 + Silent SNP A A G TCGA-IB-7647-01A-11D-2154-08 TCGA-IB-7647-10A-01D-2154-08 Untested Somatic Phase_I WXS none Illumina GAIIx d2579415-7e40-48ba-a59c-e5543b8097dc fae3bedd-75e3-4f2a-86fa-c7e2c4dd4880 g.chr2:179641506A>G ENST00000589042.1 - 28 5309 c.5085T>C c.(5083-5085)taT>taC p.Y1695Y TTN_ENST00000342992.6_Silent_p.Y1695Y|TTN_ENST00000460472.2_Silent_p.Y1649Y|TTN_ENST00000591111.1_Silent_p.Y1695Y|TTN_ENST00000342175.6_Silent_p.Y1649Y|TTN_ENST00000359218.5_Silent_p.Y1649Y|TTN_ENST00000360870.5_Silent_p.Y1695Y NM_001267550.1 NP_001254479.1 Q8WZ42 TITIN_HUMAN titin 1449 ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26) 1448 OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134) TCTCTTTGTCATAGAGATCAC 0.473000 54 330 0 0 1 0 0 CDK12 51755 broad.mit.edu 37 17 37687333 37687333 + Missense_Mutation SNP C C G TCGA-IB-7647-01A-11D-2154-08 TCGA-IB-7647-10A-01D-2154-08 Untested Somatic Phase_I WXS none Illumina GAIIx d2579415-7e40-48ba-a59c-e5543b8097dc fae3bedd-75e3-4f2a-86fa-c7e2c4dd4880 g.chr17:37687333C>G ENST00000447079.4 + 14 4270 c.4237C>G c.(4237-4239)Cac>Gac p.H1413D CDK12_ENST00000430627.2_Missense_Mutation_p.H1404D NM_015083.1|NM_016507.2 NP_055898.1|NP_057591.2 Q9NYV4 CDK12_HUMAN cyclin-dependent kinase 12 1413 mRNA processing|phosphorylation of RNA polymerase II C-terminal domain|protein autophosphorylation|regulation of MAP kinase activity|RNA splicing nuclear cyclin-dependent protein kinase holoenzyme complex|nuclear speck|nucleolus ATP binding|cyclin-dependent protein kinase activity|protein binding|RNA polymerase II carboxy-terminal domain kinase activity NS(4)|breast(3)|endometrium(5)|kidney(4)|large_intestine(11)|lung(23)|ovary(11)|prostate(4)|skin(2)|urinary_tract(3) 70 CTTAGCGTTACACCCGGTGGT 0.582000 """Mis, N, F""" serous ovarian TCGA Ovarian(9;0.13) 8 348 0 0 1 0 0 HOOK1 51361 broad.mit.edu 37 1 60330911 60330911 + Missense_Mutation SNP C C A TCGA-IB-7647-01A-11D-2154-08 TCGA-IB-7647-10A-01D-2154-08 Untested Somatic Phase_I WXS none Illumina GAIIx d2579415-7e40-48ba-a59c-e5543b8097dc fae3bedd-75e3-4f2a-86fa-c7e2c4dd4880 g.chr1:60330911C>A ENST00000371208.3 + 18 1995 c.1738C>A c.(1738-1740)Caa>Aaa p.Q580K HOOK1_ENST00000465876.1_Intron|HOOK1_ENST00000395561.2_Missense_Mutation_p.Q538K NM_015888.4 NP_056972.1 Q9UJC3 HOOK1_HUMAN hook microtubule-tethering protein 1 580 early endosome to late endosome transport|endosome organization|endosome to lysosome transport|lysosome organization|microtubule cytoskeleton organization|multicellular organismal development|protein transport FHF complex|microtubule identical protein binding biliary_tract(1)|breast(2)|endometrium(3)|kidney(2)|large_intestine(5)|lung(14)|ovary(1)|urinary_tract(1) 29 all_cancers(7;0.000129) AGATATAAATCAAAATGGTAG 0.363000 9 237 0.000274275 0.000282637 1 1 0 OR11H1 81061 broad.mit.edu 37 22 16449649 16449649 + Silent SNP C C T TCGA-IB-7647-01A-11D-2154-08 TCGA-IB-7647-10A-01D-2154-08 Untested Somatic Phase_I WXS none Illumina GAIIx d2579415-7e40-48ba-a59c-e5543b8097dc fae3bedd-75e3-4f2a-86fa-c7e2c4dd4880 g.chr22:16449649C>T ENST00000252835.4 - 1 156 c.156G>A c.(154-156)ctG>ctA p.L52L NM_001005239.1 NP_001005239.1 Q8NG94 O11H1_HUMAN olfactory receptor, family 11, subfamily H, member 1 52 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity central_nervous_system(1)|endometrium(2)|large_intestine(3)|lung(4)|skin(1) 11 all_hematologic(4;0.00567)|Acute lymphoblastic leukemia(84;0.0977) all_epithelial(15;0.208) Kidney(3;0.00216)|KIRC - Kidney renal clear cell carcinoma(3;0.00244)|Lung(27;0.0724)|COAD - Colon adenocarcinoma(3;0.211) CTGTTATAGTCAGTGCATATG 0.418000 42 999 0 0 1 0 0 MUC16 94025 broad.mit.edu 37 19 9074001 9074001 + Missense_Mutation SNP G G A TCGA-IB-7647-01A-11D-2154-08 TCGA-IB-7647-10A-01D-2154-08 Untested Somatic Phase_I WXS none Illumina GAIIx d2579415-7e40-48ba-a59c-e5543b8097dc fae3bedd-75e3-4f2a-86fa-c7e2c4dd4880 g.chr19:9074001G>A ENST00000397910.4 - 3 13648 c.13445C>T c.(13444-13446)gCg>gTg p.A4482V NM_024690.2 NP_078966.2 Q8WXI7 MUC16_HUMAN mucin 16, cell surface associated 4484 Thr-rich. cell adhesion extracellular space|extrinsic to membrane|integral to membrane|plasma membrane protein binding NS(9)|autonomic_ganglia(1)|breast(26)|central_nervous_system(11)|cervix(1)|endometrium(46)|haematopoietic_and_lymphoid_tissue(5)|kidney(35)|large_intestine(91)|liver(1)|lung(278)|ovary(17)|pancreas(2)|prostate(17)|skin(18)|soft_tissue(1)|stomach(8)|upper_aerodigestive_tract(16)|urinary_tract(7) 590 AACTGAAGTCGCAGAAACAGG 0.463000 34 464 0 0 1 0 0 GLUD1P2 0 broad.mit.edu 37 10 48968566 48968566 + RNA SNP A A G TCGA-IB-7647-01A-11D-2154-08 TCGA-IB-7647-10A-01D-2154-08 Untested Somatic Phase_I WXS none Illumina GAIIx d2579415-7e40-48ba-a59c-e5543b8097dc fae3bedd-75e3-4f2a-86fa-c7e2c4dd4880 g.chr10:48968566A>G ENST00000594520.1 + 0 723 ACAGGATAACAAACTGGAAAA 0.318000 16 165 0 0 1 0 0 CROCCP2 0 broad.mit.edu 37 1 16945433 16945433 + RNA SNP T T C TCGA-IB-7647-01A-11D-2154-08 TCGA-IB-7647-10A-01D-2154-08 Untested Somatic Phase_I WXS none Illumina GAIIx d2579415-7e40-48ba-a59c-e5543b8097dc fae3bedd-75e3-4f2a-86fa-c7e2c4dd4880 g.chr1:16945433T>C ENST00000412962.1 - 0 2086 GCGCTCCTGCTCCGCAAGCCT 0.637000 16 636 0 0 1 0 0 LRFN5 145581 broad.mit.edu 37 14 42356419 42356419 + Missense_Mutation SNP G G A TCGA-IB-7647-01A-11D-2154-08 TCGA-IB-7647-10A-01D-2154-08 Untested Somatic Phase_I WXS none Illumina GAIIx d2579415-7e40-48ba-a59c-e5543b8097dc fae3bedd-75e3-4f2a-86fa-c7e2c4dd4880 g.chr14:42356419G>A ENST00000554171.1 + 5 3023 c.591G>A c.(589-591)atG>atA p.M197I LRFN5_ENST00000554120.1_Missense_Mutation_p.M197I|LRFN5_ENST00000298119.4_Missense_Mutation_p.M197I Q96NI6 LRFN5_HUMAN leucine rich repeat and fibronectin type III domain containing 5 197 integral to membrane breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(4)|large_intestine(12)|liver(1)|lung(67)|ovary(5)|pancreas(3)|prostate(1)|skin(9)|stomach(1)|upper_aerodigestive_tract(9)|urinary_tract(2) 120 LUAD - Lung adenocarcinoma(50;0.0223)|Lung(238;0.0728) GBM - Glioblastoma multiforme(112;0.00847) TGCACAAGATGACTCGGTTAG 0.443000 HNSCC(30;0.082) 41 257 0 0 1 0 0 SEC31B 25956 broad.mit.edu 37 10 102262171 102262171 + Missense_Mutation SNP C C T TCGA-IB-7647-01A-11D-2154-08 TCGA-IB-7647-10A-01D-2154-08 Untested Somatic Phase_I WXS none Illumina GAIIx d2579415-7e40-48ba-a59c-e5543b8097dc fae3bedd-75e3-4f2a-86fa-c7e2c4dd4880 g.chr10:102262171C>T ENST00000370345.3 - 11 1347 c.1250G>A c.(1249-1251)cGc>cAc p.R417H SEC31B_ENST00000451524.1_Missense_Mutation_p.R417H NM_015490.3 NP_056305.1 Q9NQW1 SC31B_HUMAN SEC31 homolog B (S. cerevisiae) 417 protein transport|vesicle-mediated transport endoplasmic reticulum membrane|ER to Golgi transport vesicle membrane NS(1)|breast(2)|cervix(1)|endometrium(6)|kidney(4)|large_intestine(3)|lung(17)|ovary(1)|urinary_tract(1) 36 Colorectal(252;0.117) Epithelial(162;2.36e-10)|all cancers(201;2.09e-08) GAAGACTAGGCGGGGGCAAGG 0.527000 49 328 0 0 1 0 0 LRRK1 79705 broad.mit.edu 37 15 101565029 101565029 + Missense_Mutation SNP G G A rs141102052 by1000genomes TCGA-IB-7647-01A-11D-2154-08 TCGA-IB-7647-10A-01D-2154-08 Untested Somatic Phase_I WXS none Illumina GAIIx d2579415-7e40-48ba-a59c-e5543b8097dc fae3bedd-75e3-4f2a-86fa-c7e2c4dd4880 g.chr15:101565029G>A ENST00000284395.5 + 17 2480 c.2080G>A c.(2080-2082)Gtc>Atc p.V694I LRRK1_ENST00000388948.3_Missense_Mutation_p.V697I Q38SD2 LRRK1_HUMAN leucine-rich repeat kinase 1 697 Roc. small GTPase mediated signal transduction mitochondrion ATP binding|GTP binding|metal ion binding|protein binding|protein serine/threonine kinase activity breast(2)|central_nervous_system(6)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(14)|lung(25)|ovary(4)|prostate(1)|skin(1) 72 Melanoma(26;0.00505)|Lung NSC(78;0.00793)|all_lung(78;0.0094) OV - Ovarian serous cystadenocarcinoma(32;0.000932)|LUSC - Lung squamous cell carcinoma(107;0.187)|Lung(145;0.23) GGAGTTCAACGTCTGGGACAT 0.562000 10 750 0 0 1 0 0 LL22NC03-80A10.6 0 broad.mit.edu 37 22 22664743 22664743 + RNA SNP G G A TCGA-IB-7647-01A-11D-2154-08 TCGA-IB-7647-10A-01D-2154-08 Untested Somatic Phase_I WXS none Illumina GAIIx d2579415-7e40-48ba-a59c-e5543b8097dc fae3bedd-75e3-4f2a-86fa-c7e2c4dd4880 g.chr22:22664743G>A ENST00000426066.1 + 0 924 NR_027293.1 CAGACTAAAGGCAAACAAGGA 0.498000 13 174 0 0 1 0 0 NUTM2F 54754 broad.mit.edu 37 9 97084541 97084541 + Missense_Mutation SNP G G A TCGA-IB-7647-01A-11D-2154-08 TCGA-IB-7647-10A-01D-2154-08 Untested Somatic Phase_I WXS none Illumina GAIIx d2579415-7e40-48ba-a59c-e5543b8097dc fae3bedd-75e3-4f2a-86fa-c7e2c4dd4880 g.chr9:97084541G>A ENST00000335456.7 - 3 804 c.784C>T c.(784-786)Cgg>Tgg p.R262W NUTM2F_ENST00000341207.4_Missense_Mutation_p.R262W|NUTM2F_ENST00000253262.4_Missense_Mutation_p.R262W NUT family member 2F TGCCATTCCCGCATGGCCTGC 0.632000 7 462 0 0 1 0 0 SIRPA 140885 broad.mit.edu 37 20 1902301 1902301 + Missense_Mutation SNP G G A TCGA-IB-7647-01A-11D-2154-08 TCGA-IB-7647-10A-01D-2154-08 Untested Somatic Phase_I WXS none Illumina GAIIx d2579415-7e40-48ba-a59c-e5543b8097dc fae3bedd-75e3-4f2a-86fa-c7e2c4dd4880 g.chr20:1902301G>A ENST00000358771.4 + 3 849 c.697G>A c.(697-699)Gtc>Atc p.V233I SIRPA_ENST00000400068.3_Missense_Mutation_p.V233I|SIRPA_ENST00000356025.3_Missense_Mutation_p.V233I NM_001040023.1 NP_001035112.1 P78324 SHPS1_HUMAN signal-regulatory protein alpha 233 Ig-like C1-type 1. blood coagulation|cell adhesion|cell junction assembly|leukocyte migration integral to membrane|plasma membrane SH3 domain binding p.V233I(1) cervix(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(13)|ovary(1)|pancreas(1)|upper_aerodigestive_tract(1) 21 Colorectal(46;0.018)|READ - Rectum adenocarcinoma(1;0.0556) GGTGGCCCACGTCACCTTGCA 0.617000 6 257 0 0 1 0 0 TTN 7273 broad.mit.edu 37 2 179464316 179464316 + Missense_Mutation SNP C C A TCGA-IB-7647-01A-11D-2154-08 TCGA-IB-7647-10A-01D-2154-08 Untested Somatic Phase_I WXS none Illumina GAIIx d2579415-7e40-48ba-a59c-e5543b8097dc fae3bedd-75e3-4f2a-86fa-c7e2c4dd4880 g.chr2:179464316C>A ENST00000589042.1 - 289 56536 c.56312G>T c.(56311-56313)gGa>gTa p.G18771V TTN-AS1_ENST00000586452.1_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000342992.6_Missense_Mutation_p.G16203V|TTN-AS1_ENST00000592750.1_RNA|TTN-AS1_ENST00000589907.1_RNA|TTN_ENST00000460472.2_Missense_Mutation_p.G9706V|TTN-AS1_ENST00000589830.1_RNA|TTN-AS1_ENST00000590807.1_RNA|TTN-AS1_ENST00000592630.1_RNA|TTN_ENST00000591111.1_Missense_Mutation_p.G17130V|TTN-AS1_ENST00000419746.1_RNA|TTN_ENST00000342175.6_Missense_Mutation_p.G9898V|TTN-AS1_ENST00000456053.1_RNA|TTN_ENST00000359218.5_Missense_Mutation_p.G9831V|TTN-AS1_ENST00000589234.1_RNA NM_001267550.1 NP_001254479.1 Q8WZ42 TITIN_HUMAN titin 17130 Fibronectin type-III 36. ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26) 1448 OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134) TGATGCTGTTCCCAGATTATT 0.388000 74 1375 7.34454e-26 8.1126e-26 1 1 0 ZNF671 79891 broad.mit.edu 37 19 58232832 58232832 + Missense_Mutation SNP C C T TCGA-IB-7647-01A-11D-2154-08 TCGA-IB-7647-10A-01D-2154-08 Untested Somatic Phase_I WXS none Illumina GAIIx d2579415-7e40-48ba-a59c-e5543b8097dc fae3bedd-75e3-4f2a-86fa-c7e2c4dd4880 g.chr19:58232832C>T ENST00000317398.6 - 4 717 c.622G>A c.(622-624)Gac>Aac p.D208N AC003006.7_ENST00000599221.1_Intron|ZNF671_ENST00000335820.3_Missense_Mutation_p.D110N NM_024833.2 NP_079109.2 Q8TAW3 ZN671_HUMAN zinc finger protein 671 208 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding kidney(1)|large_intestine(6)|liver(1)|lung(7)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(3) 22 Colorectal(82;0.000256)|all_neural(62;0.0577)|Breast(46;0.147)|Ovarian(87;0.156) UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0257) TGGTGCTGGTCAAAGTCTGTA 0.502000 31 540 0 0 1 0 0 OBSCN 84033 broad.mit.edu 37 1 228494661 228494661 + Missense_Mutation SNP G G A TCGA-IB-7647-01A-11D-2154-08 TCGA-IB-7647-10A-01D-2154-08 Untested Somatic Phase_I WXS none Illumina GAIIx d2579415-7e40-48ba-a59c-e5543b8097dc fae3bedd-75e3-4f2a-86fa-c7e2c4dd4880 g.chr1:228494661G>A ENST00000570156.2 + 56 14931 c.14857G>A c.(14857-14859)Gca>Aca p.A4953T OBSCN_ENST00000366707.4_Missense_Mutation_p.A1630T|OBSCN_ENST00000422127.1_Missense_Mutation_p.A3996T|OBSCN_ENST00000284548.11_Missense_Mutation_p.A3996T|OBSCN_ENST00000366709.4_Missense_Mutation_p.A1115T NM_001271223.2 NP_001258152.2 Q5VST9 OBSCN_HUMAN obscurin, cytoskeletal calmodulin and titin-interacting RhoGEF 3996 Ig-like 48. apoptosis|cell differentiation|induction of apoptosis by extracellular signals|multicellular organismal development|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction cytosol|M band|Z disc ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity|protein tyrosine kinase activity|Rho guanyl-nucleotide exchange factor activity|structural constituent of muscle|titin binding NS(2)|breast(7)|central_nervous_system(5)|cervix(2)|endometrium(30)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(37)|lung(89)|ovary(8)|pancreas(3)|prostate(13)|skin(6)|stomach(11)|upper_aerodigestive_tract(2)|urinary_tract(3) 223 Prostate(94;0.0405) GGGAGGCACCGCACACTTATG 0.662000 3 44 0 0 1 0 0 PCDHA2 0 broad.mit.edu 37 5 140176361 140176361 + Silent SNP C C T TCGA-IB-7647-01A-11D-2154-08 TCGA-IB-7647-10A-01D-2154-08 Untested Somatic Phase_I WXS none Illumina GAIIx d2579415-7e40-48ba-a59c-e5543b8097dc fae3bedd-75e3-4f2a-86fa-c7e2c4dd4880 g.chr5:140176361C>T ENST00000526136.1 + 1 1812 c.1812C>T c.(1810-1812)aaC>aaT p.N604N PCDHA1_ENST00000504120.2_Intron|PCDHA2_ENST00000520672.2_Silent_p.N604N|PCDHA1_ENST00000394633.3_Intron|PCDHA2_ENST00000378132.1_Silent_p.N604N NM_018905.2 NP_061728.1 p.N604N(2) NS(1)|breast(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(16)|lung(26)|ovary(4)|prostate(6)|skin(2)|upper_aerodigestive_tract(1) 71 KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191) CAGGCTACAACGCGTGGCTTT 0.657000 27 381 0 0 1 0 0 MUC6 4588 broad.mit.edu 37 11 1031906 1031906 + Missense_Mutation SNP C C T TCGA-IB-7647-01A-11D-2154-08 TCGA-IB-7647-10A-01D-2154-08 Untested Somatic Phase_I WXS none Illumina GAIIx d2579415-7e40-48ba-a59c-e5543b8097dc fae3bedd-75e3-4f2a-86fa-c7e2c4dd4880 g.chr11:1031906C>T ENST00000421673.2 - 3 313 c.263G>A c.(262-264)cGa>cAa p.R88Q NM_005961.2 NP_005952.2 Q6W4X9 MUC6_HUMAN mucin 6, oligomeric mucus/gel-forming 88 VWFD 1. maintenance of gastrointestinal epithelium extracellular region extracellular matrix structural constituent breast(1)|central_nervous_system(1)|cervix(2)|endometrium(8)|kidney(10)|large_intestine(6)|lung(43)|ovary(4)|prostate(1)|upper_aerodigestive_tract(3)|urinary_tract(1) 80 all_cancers(49;3.3e-08)|all_epithelial(84;5.08e-05)|Breast(177;0.000307)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.229) all cancers(45;1.24e-24)|BRCA - Breast invasive adenocarcinoma(625;0.00031)|Lung(200;0.0576)|LUSC - Lung squamous cell carcinoma(625;0.0703) GTCTGGGCCTCGCCGCAGCTG 0.622000 11 191 0 0 1 0 0 OR2W5 0 broad.mit.edu 37 1 247655201 247655201 + RNA SNP C C T TCGA-IB-7647-01A-11D-2154-08 TCGA-IB-7647-10A-01D-2154-08 Untested Somatic Phase_I WXS none Illumina GAIIx d2579415-7e40-48ba-a59c-e5543b8097dc fae3bedd-75e3-4f2a-86fa-c7e2c4dd4880 g.chr1:247655201C>T ENST00000522351.1 + 0 832 A6NFC9 OR2W5_HUMAN sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity breast(1)|endometrium(5)|kidney(2)|large_intestine(2)|lung(24)|ovary(1)|skin(4) 39 all_cancers(71;4.51e-05)|all_epithelial(71;1.3e-05)|Breast(184;0.0149)|Ovarian(71;0.0377)|all_lung(81;0.0662)|Lung NSC(105;0.0724) all_cancers(173;0.222) OV - Ovarian serous cystadenocarcinoma(106;0.0188) CCATCATCTACGTGTACCTGA 0.532000 25 598 0 0 1 0 0 SLC37A1 54020 broad.mit.edu 37 21 43999848 43999848 + Silent SNP C C T TCGA-IB-7647-01A-11D-2154-08 TCGA-IB-7647-10A-01D-2154-08 Untested Somatic Phase_I WXS none Illumina GAIIx d2579415-7e40-48ba-a59c-e5543b8097dc fae3bedd-75e3-4f2a-86fa-c7e2c4dd4880 g.chr21:43999848C>T ENST00000352133.2 + 19 2506 c.1524C>T c.(1522-1524)ttC>ttT p.F508F SLC37A1_ENST00000398341.3_Silent_p.F508F P57057 GLPT_HUMAN solute carrier family 37 (glucose-6-phosphate transporter), member 1 508 carbohydrate transport|transmembrane transport integral to membrane breast(1)|endometrium(6)|kidney(1)|large_intestine(2)|liver(2)|lung(3) 15 TGGTGCAGTTCCTGATCCGCC 0.647000 17 143 0 0 1 0 0 ADAMTSL1 92949 broad.mit.edu 37 9 18777015 18777015 + Missense_Mutation SNP G G A TCGA-IB-7647-01A-11D-2154-08 TCGA-IB-7647-10A-01D-2154-08 Untested Somatic Phase_I WXS none Illumina GAIIx d2579415-7e40-48ba-a59c-e5543b8097dc fae3bedd-75e3-4f2a-86fa-c7e2c4dd4880 g.chr9:18777015G>A ENST00000380548.4 + 19 3127 c.2788G>A c.(2788-2790)Ggc>Agc p.G930S NM_001040272.5 NP_001035362.3 Q8N6G6 ATL1_HUMAN ADAMTS-like 1 930 Ig-like C2-type 1. proteinaceous extracellular matrix metallopeptidase activity|zinc ion binding breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|liver(2)|lung(17)|ovary(3)|prostate(2)|skin(1)|upper_aerodigestive_tract(1) 42 GBM - Glioblastoma multiforme(50;1.29e-17) GGCCCCCTTCGGCTATCTCAA 0.667000 43 274 0 0 1 0 0 TRAPPC9 83696 broad.mit.edu 37 8 141285777 141285777 + Missense_Mutation SNP G G A TCGA-IB-7647-01A-11D-2154-08 TCGA-IB-7647-10A-01D-2154-08 Untested Somatic Phase_I WXS none Illumina GAIIx d2579415-7e40-48ba-a59c-e5543b8097dc fae3bedd-75e3-4f2a-86fa-c7e2c4dd4880 g.chr8:141285777G>A ENST00000389328.4 - 15 2566 c.2552C>T c.(2551-2553)tCg>tTg p.S851L TRAPPC9_ENST00000389327.3_Missense_Mutation_p.S744L|TRAPPC9_ENST00000438773.2_Missense_Mutation_p.S753L NM_031466.5 NP_113654.4 Q96Q05 TPPC9_HUMAN trafficking protein particle complex 9 753 cell differentiation endoplasmic reticulum|Golgi apparatus breast(4)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|liver(1)|lung(16)|ovary(2)|prostate(1)|skin(4)|upper_aerodigestive_tract(3) 47 GAGAACTTTCGAGGTGACCTC 0.363000 7 451 0 0 1 0 0 RP11-337C18.8 0 broad.mit.edu 37 1 146649771 146649771 + RNA SNP G G A TCGA-IB-7647-01A-11D-2154-08 TCGA-IB-7647-10A-01D-2154-08 Untested Somatic Phase_I WXS none Illumina GAIIx d2579415-7e40-48ba-a59c-e5543b8097dc fae3bedd-75e3-4f2a-86fa-c7e2c4dd4880 g.chr1:146649771G>A ENST00000607149.1 + 0 350 TGCCTCCGACGTGCTAGGACT 0.711000 28 174 0 0 1 0 0 DDX31 64794 broad.mit.edu 37 9 135537950 135537950 + Missense_Mutation SNP C C T TCGA-IB-7647-01A-11D-2154-08 TCGA-IB-7647-10A-01D-2154-08 Untested Somatic Phase_I WXS none Illumina GAIIx d2579415-7e40-48ba-a59c-e5543b8097dc fae3bedd-75e3-4f2a-86fa-c7e2c4dd4880 g.chr9:135537950C>T ENST00000372159.3 - 2 674 c.523G>A c.(523-525)Gca>Aca p.A175T DDX31_ENST00000544003.1_Missense_Mutation_p.A79T|DDX31_ENST00000480876.1_5'UTR|DDX31_ENST00000372153.1_Missense_Mutation_p.A175T|DDX31_ENST00000310532.2_Missense_Mutation_p.A175T|DDX31_ENST00000438527.3_Missense_Mutation_p.A46T NM_022779.7 NP_073616.6 Q9H8H2 DDX31_HUMAN DEAD (Asp-Glu-Ala-Asp) box polypeptide 31 175 nucleolus ATP binding|ATP-dependent helicase activity|RNA binding breast(1)|central_nervous_system(2)|endometrium(4)|kidney(3)|large_intestine(4)|lung(10)|prostate(1)|skin(1)|urinary_tract(1) 27 OV - Ovarian serous cystadenocarcinoma(145;2.67e-06)|Epithelial(140;7.61e-05) ATTTTTTGTGCGTTCCCCTTA 0.428000 85 658 0 0 1 0 0 LMBRD1 55788 broad.mit.edu 37 6 70428941 70428941 + Silent SNP C C T TCGA-IB-7647-01A-11D-2154-08 TCGA-IB-7647-10A-01D-2154-08 Untested Somatic Phase_I WXS none Illumina GAIIx d2579415-7e40-48ba-a59c-e5543b8097dc fae3bedd-75e3-4f2a-86fa-c7e2c4dd4880 g.chr6:70428941C>T ENST00000370577.3 - 8 898 c.669G>A c.(667-669)ctG>ctA p.L223L LMBRD1_ENST00000370570.1_Silent_p.L150L NM_018368.3 NP_060838.3 Q9NUN5 LMBD1_HUMAN LMBR1 domain containing 1 223 interspecies interaction between organisms|transport integral to membrane|lysosomal membrane cobalamin binding breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(4)|large_intestine(7)|lung(11)|ovary(2)|upper_aerodigestive_tract(1) 31 TGCCTTTTATCAGATTTAAAG 0.313000 7 188 0 0 1 0 0 RP11-798G7.5 0 broad.mit.edu 37 17 43587730 43587730 + RNA SNP A A C rs142536398 by1000genomes TCGA-IB-7647-01A-11D-2154-08 TCGA-IB-7647-10A-01D-2154-08 Untested Somatic Phase_I WXS none Illumina GAIIx d2579415-7e40-48ba-a59c-e5543b8097dc fae3bedd-75e3-4f2a-86fa-c7e2c4dd4880 g.chr17:43587730A>C ENST00000253803.2 + 0 267 LRRC37A4P_ENST00000579913.1_RNA GTATTGATTCATTTTATTCAT 0.343000 8 177 0 0 1 0 0 NOTCH3 4854 broad.mit.edu 37 19 15271507 15271507 + Missense_Mutation SNP G G A TCGA-IB-7647-01A-11D-2154-08 TCGA-IB-7647-10A-01D-2154-08 Untested Somatic Phase_I WXS none Illumina GAIIx d2579415-7e40-48ba-a59c-e5543b8097dc fae3bedd-75e3-4f2a-86fa-c7e2c4dd4880 g.chr19:15271507G>A ENST00000263388.2 - 33 7007 c.6932C>T c.(6931-6933)cCg>cTg p.P2311L NM_000435.2 NP_000426.2 Q9UM47 NOTC3_HUMAN notch 3 2311 Notch receptor processing|Notch signaling pathway|regulation of transcription, DNA-dependent|transcription, DNA-dependent cytosol|endoplasmic reticulum lumen|extracellular region|Golgi lumen|integral to membrane|nucleoplasm|plasma membrane calcium ion binding|protein binding|receptor activity breast(4)|central_nervous_system(3)|endometrium(10)|kidney(3)|large_intestine(16)|liver(1)|lung(31)|ovary(8)|prostate(3)|skin(7)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(1) 93 OV - Ovarian serous cystadenocarcinoma(3;2.6e-20)|Epithelial(3;1.34e-16)|all cancers(3;5.13e-15) GGTAACTTCCGGCTGGGGCCC 0.627000 48 370 0 0 1 0 0 RYR1 6261 broad.mit.edu 37 19 38976522 38976522 + Missense_Mutation SNP G G A TCGA-IB-7647-01A-11D-2154-08 TCGA-IB-7647-10A-01D-2154-08 Untested Somatic Phase_I WXS none Illumina GAIIx d2579415-7e40-48ba-a59c-e5543b8097dc fae3bedd-75e3-4f2a-86fa-c7e2c4dd4880 g.chr19:38976522G>A ENST00000355481.4 + 34 5358 c.5227G>A c.(5227-5229)Gcc>Acc p.A1743T RYR1_ENST00000360985.3_Missense_Mutation_p.A1743T|RYR1_ENST00000359596.3_Missense_Mutation_p.A1743T NM_000540.2|NM_001042723.1 NP_000531.2|NP_001036188.1 P21817 RYR1_HUMAN ryanodine receptor 1 (skeletal) 1743 6 X approximate repeats. muscle contraction|release of sequestered calcium ion into cytosol|response to caffeine|response to hypoxia cell cortex|cytosol|I band|integral to plasma membrane|junctional sarcoplasmic reticulum membrane|smooth endoplasmic reticulum|terminal cisterna calcium ion binding|calmodulin binding|receptor activity|ryanodine-sensitive calcium-release channel activity NS(4)|autonomic_ganglia(2)|breast(3)|central_nervous_system(5)|endometrium(26)|haematopoietic_and_lymphoid_tissue(3)|kidney(34)|large_intestine(42)|liver(1)|lung(106)|ovary(11)|pancreas(5)|prostate(9)|skin(12)|stomach(11)|upper_aerodigestive_tract(4)|urinary_tract(7) 285 all_cancers(60;7.91e-06) Lung(45;0.00172)|LUSC - Lung squamous cell carcinoma(53;0.00272) Dantrolene(DB01219) TGAGACCCGCGCCATCACGCT 0.622000 50 365 0 0 1 0 0 CELSR3 1951 broad.mit.edu 37 3 48677669 48677669 + Missense_Mutation SNP G G A TCGA-IB-7647-01A-11D-2154-08 TCGA-IB-7647-10A-01D-2154-08 Untested Somatic Phase_I WXS none Illumina GAIIx d2579415-7e40-48ba-a59c-e5543b8097dc fae3bedd-75e3-4f2a-86fa-c7e2c4dd4880 g.chr3:48677669G>A ENST00000544264.1 - 35 9644 c.9364C>T c.(9364-9366)Cgg>Tgg p.R3122W CELSR3_ENST00000164024.4_Missense_Mutation_p.R3117W Q9NYQ7 CELR3_HUMAN cadherin, EGF LAG seven-pass G-type receptor 3 3117 homophilic cell adhesion|multicellular organismal development|neuropeptide signaling pathway integral to membrane|plasma membrane calcium ion binding|G-protein coupled receptor activity|protein binding NS(1)|biliary_tract(1)|breast(2)|central_nervous_system(3)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(23)|ovary(9)|prostate(6)|skin(7)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(5) 83 BRCA - Breast invasive adenocarcinoma(193;0.000292)|KIRC - Kidney renal clear cell carcinoma(197;0.00549)|Kidney(197;0.00619) GTGCTGCCCCGATCTTTGGGC 0.682000 37 227 0 0 1 0 0 MVB12B 89853 broad.mit.edu 37 9 129148842 129148842 + Splice_Site SNP G G C TCGA-IB-7647-01A-11D-2154-08 TCGA-IB-7647-10A-01D-2154-08 Untested Somatic Phase_I WXS none Illumina GAIIx d2579415-7e40-48ba-a59c-e5543b8097dc fae3bedd-75e3-4f2a-86fa-c7e2c4dd4880 g.chr9:129148842G>C ENST00000361171.3 + 4 395 c.312_splice c.e4-1 p.S105_splice MVB12B_ENST00000535766.1_Splice_Site_p.S98_splice|MVB12B_ENST00000436593.3_Splice_Site_p.S90_splice|MVB12B_ENST00000545391.1_Splice_Site_p.S105_splice NM_033446.2 NP_258257.1 multivesicular body subunit 12B CTTCCCAAGAGTCATCTGGGG 0.448000 4 152 0 0 1 0 0 RP11-156P1.3 0 broad.mit.edu 37 17 45128792 45128792 + RNA SNP G G T rs143713325 by1000genomes TCGA-IB-7647-01A-11D-2154-08 TCGA-IB-7647-10A-01D-2154-08 Untested Somatic Phase_I WXS none Illumina GAIIx d2579415-7e40-48ba-a59c-e5543b8097dc fae3bedd-75e3-4f2a-86fa-c7e2c4dd4880 g.chr17:45128792G>T ENST00000575173.1 - 0 418 AATTCAGGTTGTCAGAATGCA 0.373000 7 331 8.12818e-05 8.42738e-05 1 1 0 ABCC11 85320 broad.mit.edu 37 16 48209224 48209224 + Missense_Mutation SNP G G A TCGA-IB-7647-01A-11D-2154-08 TCGA-IB-7647-10A-01D-2154-08 Untested Somatic Phase_I WXS none Illumina GAIIx d2579415-7e40-48ba-a59c-e5543b8097dc fae3bedd-75e3-4f2a-86fa-c7e2c4dd4880 g.chr16:48209224G>A ENST00000394747.1 - 25 3992 c.3643C>T c.(3643-3645)Cgg>Tgg p.R1215W ABCC11_ENST00000356608.2_Missense_Mutation_p.R1215W|ABCC11_ENST00000353782.5_Missense_Mutation_p.R1215W|ABCC11_ENST00000394748.1_Missense_Mutation_p.R1215W|ABCC11_ENST00000565329.1_5'UTR NM_033151.3 NP_149163.2 Q96J66 ABCCB_HUMAN ATP-binding cassette, sub-family C (CFTR/MRP), member 11 1215 ABC transporter 2. integral to membrane ATP binding|ATPase activity, coupled to transmembrane movement of substances breast(3)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(12)|lung(42)|ovary(3)|prostate(2)|skin(5)|urinary_tract(2) 83 all_cancers(37;0.127)|all_lung(18;0.132)|Breast(268;0.166) AGCTTGGACCGCAAGTCCTCC 0.622000 5 188 0 0 1 0 0 EPHA2 1969 broad.mit.edu 37 1 16455955 16455955 + Silent SNP G G A TCGA-IB-7647-01A-11D-2154-08 TCGA-IB-7647-10A-01D-2154-08 Untested Somatic Phase_I WXS none Illumina GAIIx d2579415-7e40-48ba-a59c-e5543b8097dc fae3bedd-75e3-4f2a-86fa-c7e2c4dd4880 g.chr1:16455955G>A ENST00000358432.5 - 16 2953 c.2799C>T c.(2797-2799)atC>atT p.I933I NM_004431.3 NP_004422.2 P29317 EPHA2_HUMAN EPH receptor A2 933 Negatively regulates interaction with ARHGEF16.|SAM. activation of Rac GTPase activity|angiogenesis|apoptosis|cell chemotaxis|negative regulation of protein kinase B signaling cascade|positive regulation of establishment of protein localization in plasma membrane|protein kinase B signaling cascade|regulation of blood vessel endothelial cell migration|regulation of cell adhesion mediated by integrin|regulation of lamellipodium assembly|response to growth factor stimulus focal adhesion|integral to plasma membrane|lamellipodium membrane|ruffle membrane ATP binding|ephrin receptor activity|protein binding NS(1)|biliary_tract(1)|breast(3)|central_nervous_system(3)|cervix(2)|endometrium(1)|kidney(1)|large_intestine(6)|lung(12)|ovary(2)|pancreas(1)|prostate(3)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(1) 42 Colorectal(325;3.46e-05)|Breast(348;0.000278)|Lung NSC(340;0.000419)|Renal(390;0.000518)|all_lung(284;0.000567)|Ovarian(437;0.0221)|Myeloproliferative disorder(586;0.0255) UCEC - Uterine corpus endometrioid carcinoma (279;0.0181)|Colorectal(212;3.63e-07)|COAD - Colon adenocarcinoma(227;2.25e-05)|BRCA - Breast invasive adenocarcinoma(304;9.58e-05)|Kidney(64;0.000175)|KIRC - Kidney renal clear cell carcinoma(64;0.00261)|STAD - Stomach adenocarcinoma(313;0.00669)|READ - Rectum adenocarcinoma(331;0.0649) Dasatinib(DB01254) CCACCTTCTCGATGGCAGTGT 0.652000 13 392 0 0 1 0 0 LINC00264 0 broad.mit.edu 37 10 26880338 26880338 + RNA SNP G G C rs3118888 by1000genomes TCGA-IB-7647-01A-11D-2154-08 TCGA-IB-7647-10A-01D-2154-08 Untested Somatic Phase_I WXS none Illumina GAIIx d2579415-7e40-48ba-a59c-e5543b8097dc fae3bedd-75e3-4f2a-86fa-c7e2c4dd4880 g.chr10:26880338G>C ENST00000412114.1 + 0 573 NR_026793.1 GCTGAAACATGGAAGGTAAAA 0.483000 11 213 0 0 1 0 0 UQCRC2 7385 broad.mit.edu 37 16 21974207 21974207 + Splice_Site SNP G G T TCGA-IB-7647-01A-11D-2154-08 TCGA-IB-7647-10A-01D-2154-08 Untested Somatic Phase_I WXS none Illumina GAIIx d2579415-7e40-48ba-a59c-e5543b8097dc fae3bedd-75e3-4f2a-86fa-c7e2c4dd4880 g.chr16:21974207G>T ENST00000268379.4 + 6 1278 c.e6+1 UQCRC2_ENST00000561553.1_Splice_Site NM_003366.2 NP_003357.2 P22695 QCR2_HUMAN ubiquinol-cytochrome c reductase core protein II aerobic respiration|oxidative phosphorylation|proteolysis|respiratory electron transport chain|transport metalloendopeptidase activity|zinc ion binding breast(1)|cervix(1)|endometrium(2)|large_intestine(5)|lung(4)|prostate(1)|skin(1) 15 GBM - Glioblastoma multiforme(48;0.0264) CCGCAGACTCGTAAGTACATT 0.363000 32 283 7.63505e-26 8.37872e-26 1 1 0 KIF18B 146909 broad.mit.edu 37 17 43011628 43011628 + Silent SNP G G A TCGA-IB-7647-01A-11D-2154-08 TCGA-IB-7647-10A-01D-2154-08 Untested Somatic Phase_I WXS none Illumina GAIIx d2579415-7e40-48ba-a59c-e5543b8097dc fae3bedd-75e3-4f2a-86fa-c7e2c4dd4880 g.chr17:43011628G>A ENST00000587309.1 - 6 881 c.858C>T c.(856-858)aaC>aaT p.N286N KIF18B_ENST00000339151.4_Silent_p.N286N|KIF18B_ENST00000438933.2_Silent_p.N286N|KIF18B_ENST00000590129.1_Silent_p.N295N|KIF18B_ENST00000593135.1_Silent_p.N286N NM_001264573.1 NP_001251503.1 kinesin family member 18B breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(9)|ovary(2) 21 Prostate(33;0.155) CATTGAGGACGTTGATGAGCG 0.617000 4 101 0 0 1 0 0 CCT6P1 0 broad.mit.edu 37 7 65222986 65222986 + RNA SNP G G T TCGA-IB-7647-01A-11D-2154-08 TCGA-IB-7647-10A-01D-2154-08 Untested Somatic Phase_I WXS none Illumina GAIIx d2579415-7e40-48ba-a59c-e5543b8097dc fae3bedd-75e3-4f2a-86fa-c7e2c4dd4880 g.chr7:65222986G>T ENST00000442266.1 + 0 578 GAATTCTGGCGTTTTTTACAA 0.289000 4 96 0.150653 0.150653 1 1 0 CACNA1G 8913 broad.mit.edu 37 17 48650006 48650006 + Missense_Mutation SNP C C T TCGA-IB-7647-01A-11D-2154-08 TCGA-IB-7647-10A-01D-2154-08 Untested Somatic Phase_I WXS none Illumina GAIIx d2579415-7e40-48ba-a59c-e5543b8097dc fae3bedd-75e3-4f2a-86fa-c7e2c4dd4880 g.chr17:48650006C>T ENST00000352832.5 + 6 1210 c.838C>T c.(838-840)Cgg>Tgg p.R280W CACNA1G_ENST00000354983.4_Missense_Mutation_p.R280W|CACNA1G_ENST00000515411.1_Missense_Mutation_p.R280W|CACNA1G_ENST00000507609.1_Missense_Mutation_p.R280W|CACNA1G_ENST00000503485.1_Missense_Mutation_p.R280W|CACNA1G_ENST00000515765.1_Missense_Mutation_p.R280W|CACNA1G_ENST00000507336.1_Missense_Mutation_p.R280W|CACNA1G_ENST00000416767.4_Missense_Mutation_p.R280W|CACNA1G_ENST00000515165.1_Missense_Mutation_p.R280W|CACNA1G_ENST00000505165.1_Missense_Mutation_p.R280W|CACNA1G_ENST00000513964.1_Missense_Mutation_p.R280W|CACNA1G_ENST00000514717.1_Missense_Mutation_p.R280W|CACNA1G_ENST00000358244.5_Missense_Mutation_p.R280W|CACNA1G_ENST00000507896.1_Missense_Mutation_p.R280W|CACNA1G_ENST00000507510.2_Missense_Mutation_p.R280W|CACNA1G_ENST00000510366.1_Missense_Mutation_p.R280W|CACNA1G_ENST00000429973.2_Missense_Mutation_p.R280W|CACNA1G_ENST00000442258.2_Missense_Mutation_p.R280W|CACNA1G_ENST00000360761.4_Missense_Mutation_p.R280W|CACNA1G_ENST00000512389.1_Missense_Mutation_p.R280W|CACNA1G_ENST00000513689.2_Missense_Mutation_p.R280W|CACNA1G_ENST00000514079.1_Missense_Mutation_p.R280W|CACNA1G_ENST00000510115.1_Missense_Mutation_p.R280W|CACNA1G_ENST00000359106.5_Missense_Mutation_p.R280W|CACNA1G_ENST00000502264.1_Missense_Mutation_p.R280W|CACNA1G_ENST00000514181.1_Missense_Mutation_p.R280W NM_001256334.1|NM_198376.2|NM_198379.2|NM_198387.2|NM_198388.2 NP_001243263.1|NP_938190.1|NP_938193.1|NP_938201.1|NP_938202.1 O43497 CAC1G_HUMAN calcium channel, voltage-dependent, T type, alpha 1G subunit 280 axon guidance voltage-gated calcium channel complex low voltage-gated calcium channel activity breast(5)|cervix(1)|endometrium(13)|kidney(5)|lung(23) 47 Breast(11;6.7e-17) BRCA - Breast invasive adenocarcinoma(22;7.52e-09) Ethosuximide(DB00593)|Flunarizine(DB04841)|Levetiracetam(DB01202)|Mibefradil(DB01388)|Pimozide(DB01100)|Trimethadione(DB00347)|Verapamil(DB00661)|Zonisamide(DB00909) GAACGGCATGCGGTCCTGCAG 0.647000 3 51 0 0 1 0 0 TCF7L1 83439 broad.mit.edu 37 2 85533483 85533483 + Nonsense_Mutation SNP A A T TCGA-IB-7647-01A-11D-2154-08 TCGA-IB-7647-10A-01D-2154-08 Untested Somatic Phase_I WXS none Illumina GAIIx d2579415-7e40-48ba-a59c-e5543b8097dc fae3bedd-75e3-4f2a-86fa-c7e2c4dd4880 g.chr2:85533483A>T ENST00000282111.3 + 9 1419 c.1144A>T c.(1144-1146)Aga>Tga p.R382* NM_031283.2 NP_112573.1 Q9HCS4 TF7L1_HUMAN transcription factor 7-like 1 (T-cell specific, HMG-box) 382 chromatin organization|regulation of Wnt receptor signaling pathway|Wnt receptor signaling pathway nucleus DNA binding|sequence-specific DNA binding transcription factor activity breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(3)|skin(4)|upper_aerodigestive_tract(1) 18 GATCCTTGGAAGAAAGGTAAG 0.567000 11 273 0 0 1 0 0 TUBA1A 7846 broad.mit.edu 37 12 49580155 49580155 + Nonsense_Mutation SNP G G A TCGA-IB-7647-01A-11D-2154-08 TCGA-IB-7647-10A-01D-2154-08 Untested Somatic Phase_I WXS none Illumina GAIIx d2579415-7e40-48ba-a59c-e5543b8097dc fae3bedd-75e3-4f2a-86fa-c7e2c4dd4880 g.chr12:49580155G>A ENST00000301071.7 - 3 657 c.313C>T c.(313-315)Cga>Tga p.R105* TUBA1A_ENST00000550767.1_Nonsense_Mutation_p.R70*|TUBA1A_ENST00000546918.1_Silent_p.P155P|TUBA1A_ENST00000295766.5_Nonsense_Mutation_p.R105* NM_001270400.1|NM_006009.3 NP_001257329.1|NP_006000.2 Q71U36 TBA1A_HUMAN tubulin, alpha 1a 105 'de novo' posttranslational protein folding|G2/M transition of mitotic cell cycle|microtubule-based movement|protein polymerization cytosol|microtubule GTP binding|GTPase activity|structural molecule activity stomach(1)|upper_aerodigestive_tract(1) 2 TAGTGCCCTCGGGCATAGTTA 0.468000 34 951 0 0 1 0 0 MLLT3 4300 broad.mit.edu 37 9 20414343 20414343 + Silent SNP A A G TCGA-IB-7647-01A-11D-2154-08 TCGA-IB-7647-10A-01D-2154-08 Untested Somatic Phase_I WXS none Illumina GAIIx d2579415-7e40-48ba-a59c-e5543b8097dc fae3bedd-75e3-4f2a-86fa-c7e2c4dd4880 g.chr9:20414343A>G ENST00000380338.4 - 5 787 c.501T>C c.(499-501)agT>agC p.S167S MLLT3_ENST00000475957.1_5'UTR|MLLT3_ENST00000429426.2_Silent_p.S164S|MLLT3_ENST00000355930.6_5'UTR NM_004529.2 NP_004520.2 P42568 AF9_HUMAN myeloid/lymphoid or mixed-lineage leukemia (trithorax homolog, Drosophila); translocated to, 3 167 Poly-Ser. regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus protein binding p.S167S(19) central_nervous_system(1)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(6)|lung(24)|ovary(1)|prostate(4)|skin(1)|urinary_tract(7) 66 GBM - Glioblastoma multiforme(3;4.35e-105)|Lung(42;3.48e-06)|LUSC - Lung squamous cell carcinoma(42;7.92e-05) tgctgctgctactgctgctgc 0.532000 T MLL ALL 33 400 0 0 1 0 0 GAGE2A 729447 broad.mit.edu 37 X 49355893 49355893 + Missense_Mutation SNP C C G rs147803166 by1000genomes TCGA-IB-7647-01A-11D-2154-08 TCGA-IB-7647-10A-01D-2154-08 Untested Somatic Phase_I WXS none Illumina GAIIx d2579415-7e40-48ba-a59c-e5543b8097dc fae3bedd-75e3-4f2a-86fa-c7e2c4dd4880 g.chrX:49355893C>G ENST00000362097.1 + 3 258 c.175C>G c.(175-177)Cag>Gag p.Q59E NM_001127212.1 NP_001120684.1 G antigen 2A p.Q59E(8) endometrium(4) 4 Ovarian(276;0.236) TCAGGAGGGACAGGATGAGGG 0.562000 3 31 0 0 1 0 0 ADCY8 114 broad.mit.edu 37 8 132051844 132051844 + Missense_Mutation SNP C C T TCGA-IB-7647-01A-11D-2154-08 TCGA-IB-7647-10A-01D-2154-08 Untested Somatic Phase_I WXS none Illumina GAIIx d2579415-7e40-48ba-a59c-e5543b8097dc fae3bedd-75e3-4f2a-86fa-c7e2c4dd4880 g.chr8:132051844C>T ENST00000286355.5 - 1 2828 c.736G>A c.(736-738)Ggc>Agc p.G246S ADCY8_ENST00000377928.3_Missense_Mutation_p.G246S NM_001115.2 NP_001106.1 P40145 ADCY8_HUMAN adenylate cyclase 8 (brain) 246 activation of adenylate cyclase activity by G-protein signaling pathway|activation of phospholipase C activity|activation of protein kinase A activity|cellular response to glucagon stimulus|energy reserve metabolic process|inhibition of adenylate cyclase activity by G-protein signaling pathway|nerve growth factor receptor signaling pathway|synaptic transmission|transmembrane transport|water transport integral to membrane|membrane fraction|plasma membrane ATP binding|calcium- and calmodulin-responsive adenylate cyclase activity|metal ion binding NS(1)|breast(4)|central_nervous_system(2)|cervix(1)|endometrium(10)|kidney(5)|large_intestine(21)|lung(67)|pancreas(1)|prostate(3)|skin(12)|upper_aerodigestive_tract(5)|urinary_tract(2) 134 Esophageal squamous(12;0.00693)|Ovarian(258;0.00707)|Acute lymphoblastic leukemia(118;0.155) BRCA - Breast invasive adenocarcinoma(115;0.000538) GTGACCACGCCGCTGTACTGC 0.637000 HNSCC(32;0.087) 13 216 0 0 1 0 0 TBX5 6910 broad.mit.edu 37 12 114836449 114836449 + Missense_Mutation SNP G G T TCGA-IB-7647-01A-11D-2154-08 TCGA-IB-7647-10A-01D-2154-08 Untested Somatic Phase_I WXS none Illumina GAIIx d2579415-7e40-48ba-a59c-e5543b8097dc fae3bedd-75e3-4f2a-86fa-c7e2c4dd4880 g.chr12:114836449G>T ENST00000310346.4 - 5 1105 c.439C>A c.(439-441)Cat>Aat p.H147N TBX5_ENST00000349716.5_Missense_Mutation_p.H97N|TBX5_ENST00000526441.1_Missense_Mutation_p.H147N|TBX5_ENST00000405440.2_Missense_Mutation_p.H147N|TBX5_ENST00000552726.1_5'UTR NM_000192.3 NP_000183.2 Q99593 TBX5_HUMAN T-box 5 147 cardiac left ventricle formation|cell migration involved in coronary vasculogenesis|cell-cell signaling|embryonic arm morphogenesis|induction of apoptosis|negative regulation of cardiac muscle cell proliferation|negative regulation of cell migration|negative regulation of epithelial to mesenchymal transition|pericardium development|positive regulation of cardioblast differentiation|positive regulation of transcription from RNA polymerase II promoter|ventricular septum development cytoplasm|nucleus protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription factor binding endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(7)|lung(29)|ovary(6)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1) 56 Medulloblastoma(191;0.163)|all_neural(191;0.178) BRCA - Breast invasive adenocarcinoma(302;0.0893) CTCATCCAATGCGCCCCGGTG 0.612000 14 84 1.52009e-12 1.63628e-12 1 1 0 BCKDHA 593 broad.mit.edu 37 19 41928085 41928085 + Silent SNP C C T rs151227241 TCGA-IB-7647-01A-11D-2154-08 TCGA-IB-7647-10A-01D-2154-08 Untested Somatic Phase_I WXS none Illumina GAIIx d2579415-7e40-48ba-a59c-e5543b8097dc fae3bedd-75e3-4f2a-86fa-c7e2c4dd4880 g.chr19:41928085C>T ENST00000269980.2 + 6 1031 c.663C>T c.(661-663)taC>taT p.Y221Y BCKDHA_ENST00000535632.1_3'UTR|BCKDHA_ENST00000595085.1_Silent_p.Y255Y|CTC-435M10.3_ENST00000540732.1_Silent_p.Y255Y|BCKDHA_ENST00000457836.2_Silent_p.Y199Y NM_000709.3|NM_001164783.1 NP_000700.1|NP_001158255.1 P12694 ODBA_HUMAN branched chain keto acid dehydrogenase E1, alpha polypeptide 221 branched chain family amino acid catabolic process mitochondrial alpha-ketoglutarate dehydrogenase complex 3-methyl-2-oxobutanoate dehydrogenase (2-methylpropanoyl-transferring) activity|alpha-ketoacid dehydrogenase activity|carboxy-lyase activity|metal ion binding|protein binding central_nervous_system(1)|kidney(1)|large_intestine(3)|lung(4)|prostate(1) 10 GGGCGGCGTACGCAGCCAAGC 0.637000 7 180 0 0 1 0 0 GPR112 139378 broad.mit.edu 37 X 135432097 135432097 + Missense_Mutation SNP G G C TCGA-IB-7647-01A-11D-2154-08 TCGA-IB-7647-10A-01D-2154-08 Untested Somatic Phase_I WXS none Illumina GAIIx d2579415-7e40-48ba-a59c-e5543b8097dc fae3bedd-75e3-4f2a-86fa-c7e2c4dd4880 g.chrX:135432097G>C ENST00000394143.1 + 6 6523 c.6232G>C c.(6232-6234)Ggt>Cgt p.G2078R GPR112_ENST00000394141.1_Missense_Mutation_p.G1873R|GPR112_ENST00000287534.4_Missense_Mutation_p.G2015R|GPR112_ENST00000370652.1_Missense_Mutation_p.G2078R|GPR112_ENST00000412101.1_Missense_Mutation_p.G1873R NM_153834.3 NP_722576.3 Q8IZF6 GP112_HUMAN G protein-coupled receptor 112 2078 neuropeptide signaling pathway integral to membrane|plasma membrane G-protein coupled receptor activity NS(2)|breast(13)|central_nervous_system(2)|cervix(3)|endometrium(17)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(33)|lung(97)|ovary(5)|pancreas(2)|prostate(4)|skin(10)|upper_aerodigestive_tract(1)|urinary_tract(2) 199 Acute lymphoblastic leukemia(192;0.000127) ACCTACACTGGGTGGTATCAC 0.468000 26 393 0 0 1 0 0 CXorf22 170063 broad.mit.edu 37 X 35974224 35974224 + Missense_Mutation SNP G G A TCGA-IB-7647-01A-11D-2154-08 TCGA-IB-7647-10A-01D-2154-08 Untested Somatic Phase_I WXS none Illumina GAIIx d2579415-7e40-48ba-a59c-e5543b8097dc fae3bedd-75e3-4f2a-86fa-c7e2c4dd4880 g.chrX:35974224G>A ENST00000297866.5 + 8 1387 c.1321G>A c.(1321-1323)Gaa>Aaa p.E441K NM_152632.3 NP_689845.2 Q6ZTR5 CX022_HUMAN chromosome X open reading frame 22 441 p.E441K(2) breast(2)|central_nervous_system(2)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(9)|lung(18)|ovary(1)|pancreas(1)|upper_aerodigestive_tract(3) 44 AAATCAATGCGAATTACTTCC 0.358000 21 227 0 0 1 0 0 ACTA1 58 broad.mit.edu 37 1 229568336 229568336 + Missense_Mutation SNP C C T TCGA-IB-7647-01A-11D-2154-08 TCGA-IB-7647-10A-01D-2154-08 Untested Somatic Phase_I WXS none Illumina GAIIx d2579415-7e40-48ba-a59c-e5543b8097dc fae3bedd-75e3-4f2a-86fa-c7e2c4dd4880 g.chr1:229568336C>T ENST00000366684.3 - 3 523 c.421G>A c.(421-423)Gtg>Atg p.V141M ACTA1_ENST00000366683.2_Intron NM_001100.3 NP_001091.1 P68133 ACTS_HUMAN actin, alpha 1, skeletal muscle 141 muscle filament sliding|skeletal muscle fiber development|skeletal muscle thin filament assembly actin filament|cytosol|stress fiber|striated muscle thin filament ADP binding|ATP binding|myosin binding|structural constituent of cytoskeleton endometrium(4)|large_intestine(4)|lung(18)|prostate(1)|urinary_tract(1) 28 Breast(184;0.0858)|Ovarian(103;0.103) Prostate(94;0.167) Dornase Alfa(DB00003) AGGGACAGCACGGCCTGGATG 0.706000 74 365 0 0 1 0 0 RAB40B 10966 broad.mit.edu 37 17 80615798 80615798 + Missense_Mutation SNP C C T TCGA-IB-7647-01A-11D-2154-08 TCGA-IB-7647-10A-01D-2154-08 Untested Somatic Phase_I WXS none Illumina GAIIx d2579415-7e40-48ba-a59c-e5543b8097dc fae3bedd-75e3-4f2a-86fa-c7e2c4dd4880 g.chr17:80615798C>T ENST00000571995.1 - 6 909 c.778G>A c.(778-780)Gtc>Atc p.V260I RAB40B_ENST00000269347.6_Missense_Mutation_p.V81I|RAB40B_ENST00000538809.2_3'UTR NM_006822.2 NP_006813.1 Q12829 RB40B_HUMAN RAB40B, member RAS oncogene family 260 protein transport|small GTPase mediated signal transduction plasma membrane GTP binding central_nervous_system(1)|kidney(1)|large_intestine(1)|lung(4)|ovary(1)|urinary_tract(2) 10 Breast(20;0.00132)|all_neural(118;0.0952) all_cancers(8;0.072)|all_epithelial(8;0.139) BRCA - Breast invasive adenocarcinoma(99;0.0262)|OV - Ovarian serous cystadenocarcinoma(97;0.061) GGGGGGCGGACGAGCTTCACT 0.572000 14 744 0 0 1 0 0 ANK3 288 broad.mit.edu 37 10 61847990 61847990 + Missense_Mutation SNP C C G TCGA-IB-7647-01A-11D-2154-08 TCGA-IB-7647-10A-01D-2154-08 Untested Somatic Phase_I WXS none Illumina GAIIx d2579415-7e40-48ba-a59c-e5543b8097dc fae3bedd-75e3-4f2a-86fa-c7e2c4dd4880 g.chr10:61847990C>G ENST00000280772.1 - 29 3646 c.3455G>C c.(3454-3456)gGa>gCa p.G1152A ANK3_ENST00000373827.2_Missense_Mutation_p.G1146A|ANK3_ENST00000355288.2_Missense_Mutation_p.G286A|ANK3_ENST00000503366.1_Missense_Mutation_p.G1153A NM_020987.3 NP_066267.2 Q12955 ANK3_HUMAN ankyrin 3, node of Ranvier (ankyrin G) 1152 establishment of protein localization|signal transduction basolateral plasma membrane|cytoplasm|cytoskeleton protein binding NS(4)|breast(7)|central_nervous_system(5)|endometrium(19)|haematopoietic_and_lymphoid_tissue(5)|kidney(14)|large_intestine(30)|liver(2)|lung(59)|ovary(8)|pancreas(2)|prostate(5)|skin(26)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(7) 196 GCTCAGAATTCCACCTTCAGG 0.468000 69 507 0 0 1 0 0 TSC22D1 8848 broad.mit.edu 37 13 45147422 45147422 + Missense_Mutation SNP C C A TCGA-IB-7647-01A-11D-2154-08 TCGA-IB-7647-10A-01D-2154-08 Untested Somatic Phase_I WXS none Illumina GAIIx d2579415-7e40-48ba-a59c-e5543b8097dc fae3bedd-75e3-4f2a-86fa-c7e2c4dd4880 g.chr13:45147422C>A ENST00000458659.2 - 1 3279 c.2789G>T c.(2788-2790)gGt>gTt p.G930V TSC22D1_ENST00000460842.1_5'UTR|TSC22D1_ENST00000501704.2_Intron NM_183422.3 NP_904358.2 Q15714 T22D1_HUMAN TSC22 domain family, member 1 930 transcription from RNA polymerase II promoter cytoplasm|nucleus protein binding|sequence-specific DNA binding transcription factor activity breast(5)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(4)|lung(8)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 27 all_hematologic(4;8.74e-08)|Acute lymphoblastic leukemia(4;1.78e-07)|Lung NSC(96;2.21e-05)|Breast(139;0.000625)|Prostate(109;0.000947)|Hepatocellular(98;0.0202)|Lung SC(185;0.0262) GBM - Glioblastoma multiforme(144;0.000522)|BRCA - Breast invasive adenocarcinoma(63;0.118) CCCACTGTCACCACTGATAGT 0.537000 9 626 3.09899e-07 3.25297e-07 1 1 0 GDE1 51573 broad.mit.edu 37 16 19528372 19528372 + Missense_Mutation SNP A A T TCGA-IB-7647-01A-11D-2154-08 TCGA-IB-7647-10A-01D-2154-08 Untested Somatic Phase_I WXS none Illumina GAIIx d2579415-7e40-48ba-a59c-e5543b8097dc fae3bedd-75e3-4f2a-86fa-c7e2c4dd4880 g.chr16:19528372A>T ENST00000353258.3 - 2 581 c.401T>A c.(400-402)aTt>aAt p.I134N NM_016641.3 NP_057725.1 Q9NZC3 GDE1_HUMAN glycerophosphodiester phosphodiesterase 1 134 GDPD. glycerol metabolic process|lipid metabolic process cytoplasm|integral to membrane glycerophosphodiester phosphodiesterase activity|glycerophosphoinositol glycerophosphodiesterase activity|metal ion binding central_nervous_system(1)|endometrium(2)|large_intestine(1)|lung(6)|ovary(2)|prostate(1) 13 CAGCTTCCTAATTTGTTCAAA 0.408000 70 575 0 0 1 0 0 RRN3P2 0 broad.mit.edu 37 16 29110458 29110458 + RNA SNP T T C rs151074589 by1000genomes TCGA-IB-7647-01A-11D-2154-08 TCGA-IB-7647-10A-01D-2154-08 Untested Somatic Phase_I WXS none Illumina GAIIx d2579415-7e40-48ba-a59c-e5543b8097dc fae3bedd-75e3-4f2a-86fa-c7e2c4dd4880 g.chr16:29110458T>C ENST00000564580.1 + 0 1131 p.W375R(25) GAATTTTGAGTGGATAGTGAT 0.328000 13 275 0 0 1 0 0 LRRC4C 57689 broad.mit.edu 37 11 40137319 40137319 + Missense_Mutation SNP C C T TCGA-IB-7647-01A-11D-2154-08 TCGA-IB-7647-10A-01D-2154-08 Untested Somatic Phase_I WXS none Illumina GAIIx d2579415-7e40-48ba-a59c-e5543b8097dc fae3bedd-75e3-4f2a-86fa-c7e2c4dd4880 g.chr11:40137319C>T ENST00000278198.2 - 2 2487 c.524G>A c.(523-525)cGc>cAc p.R175H LRRC4C_ENST00000530763.1_Missense_Mutation_p.R175H|LRRC4C_ENST00000528697.1_Missense_Mutation_p.R175H|LRRC4C_ENST00000527150.1_Missense_Mutation_p.R175H Q9HCJ2 LRC4C_HUMAN leucine rich repeat containing 4C 175 regulation of axonogenesis integral to membrane protein binding NS(2)|central_nervous_system(3)|endometrium(1)|large_intestine(14)|lung(43)|ovary(5)|prostate(2)|skin(9)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(1) 86 all_lung(304;0.0575)|Lung NSC(402;0.138) GTCTAGTCGGCGCAAAGAAGG 0.428000 30 551 0 0 1 0 0 LRRCC1 85444 broad.mit.edu 37 8 86027446 86027446 + Missense_Mutation SNP G G A TCGA-IB-7647-01A-11D-2154-08 TCGA-IB-7647-10A-01D-2154-08 Untested Somatic Phase_I WXS none Illumina GAIIx d2579415-7e40-48ba-a59c-e5543b8097dc fae3bedd-75e3-4f2a-86fa-c7e2c4dd4880 g.chr8:86027446G>A ENST00000414626.2 + 4 1485 c.596G>A c.(595-597)tGc>tAc p.C199Y LRRCC1_ENST00000360375.3_Missense_Mutation_p.C219Y Q9C099 LRCC1_HUMAN leucine rich repeat and coiled-coil centrosomal protein 1 219 LRRCT. cell division|mitosis centriole|nucleus breast(3)|central_nervous_system(1)|endometrium(4)|kidney(9)|large_intestine(7)|lung(16)|skin(1)|upper_aerodigestive_tract(2) 43 CAGCTGCAGTGCCTAGAAGGT 0.323000 81 579 0 0 1 0 0 FPGS 2356 broad.mit.edu 37 9 130575756 130575756 + Missense_Mutation SNP C C T TCGA-IB-7647-01A-11D-2154-08 TCGA-IB-7647-10A-01D-2154-08 Untested Somatic Phase_I WXS none Illumina GAIIx d2579415-7e40-48ba-a59c-e5543b8097dc fae3bedd-75e3-4f2a-86fa-c7e2c4dd4880 g.chr9:130575756C>T ENST00000373225.3 + 15 1696 c.1487C>T c.(1486-1488)aCc>aTc p.T496I FPGS_ENST00000373245.1_3'UTR|FPGS_ENST00000373247.2_Missense_Mutation_p.T546I|FPGS_ENST00000393706.2_Missense_Mutation_p.T520I|FPGS_ENST00000460181.1_3'UTR NM_001018078.1 NP_001018088.1 Q05932 FOLC_HUMAN folylpolyglutamate synthase 546 folic acid metabolic process|nucleobase, nucleoside, nucleotide and nucleic acid metabolic process|one-carbon metabolic process cytosol|mitochondrial matrix ATP binding|tetrahydrofolylpolyglutamate synthase activity endometrium(2)|kidney(1)|lung(3)|ovary(1) 7 L-Glutamic Acid(DB00142) GGCCTCCTCACCCACCCTGTG 0.607000 61 539 0 0 1 0 0 SEPT7 989 broad.mit.edu 37 7 35930362 35930362 + Silent SNP T T C TCGA-IB-7647-01A-11D-2154-08 TCGA-IB-7647-10A-01D-2154-08 Untested Somatic Phase_I WXS none Illumina GAIIx d2579415-7e40-48ba-a59c-e5543b8097dc fae3bedd-75e3-4f2a-86fa-c7e2c4dd4880 g.chr7:35930362T>C ENST00000494488.2 + 10 915 c.915T>C c.(913-915)taT>taC p.Y305Y SEPT7_ENST00000435235.1_Silent_p.Y266Y|SEPT7_ENST00000350320.6_Silent_p.Y318Y|SEPT7_ENST00000399034.2_Silent_p.Y320Y|SEPT7_ENST00000399035.3_Silent_p.Y318Y|SEPT7_ENST00000432293.2_Intron Q16181 SEPT7_HUMAN septin 7 319 cilium morphogenesis|cytokinesis|mitosis|protein heterooligomerization|regulation of embryonic cell shape cilium axoneme|cleavage furrow|condensed chromosome kinetochore|midbody|nucleus|septin complex|spindle|stress fiber GTP binding|protein binding|structural molecule activity p.Y320Y(3) central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(2)|lung(7)|prostate(1) 14 CTGTGACTTATAATGGAGTTG 0.323000 5 152 0 0 1 0 0 ANKRD36C 400986 broad.mit.edu 37 2 96521777 96521777 + Missense_Mutation SNP T T C rs77768218 TCGA-IB-7647-01A-11D-2154-08 TCGA-IB-7647-10A-01D-2154-08 Untested Somatic Phase_I WXS none Illumina GAIIx d2579415-7e40-48ba-a59c-e5543b8097dc fae3bedd-75e3-4f2a-86fa-c7e2c4dd4880 g.chr2:96521777T>C ENST00000456556.1 - 63 4316 c.4232A>G c.(4231-4233)cAt>cGt p.H1411R ANKRD36C_ENST00000420871.2_Missense_Mutation_p.H662R|ANKRD36C_ENST00000419039.2_Missense_Mutation_p.H438R ankyrin repeat domain 36C p.H662R(6)|p.H1411R(3) breast(1)|endometrium(8)|kidney(5)|lung(4) 18 AAGGTCTTCATGCTTTCTTTT 0.383000 5 165 0 0 1 0 0 ERCC2 2068 broad.mit.edu 37 19 45854979 45854979 + Splice_Site SNP C C G TCGA-IB-7647-01A-11D-2154-08 TCGA-IB-7647-10A-01D-2154-08 Untested Somatic Phase_I WXS none Illumina GAIIx d2579415-7e40-48ba-a59c-e5543b8097dc fae3bedd-75e3-4f2a-86fa-c7e2c4dd4880 g.chr19:45854979C>G ENST00000391945.4 - 23 2268 c.2190_splice c.e23-1 p.E731_splice ERCC2_ENST00000391944.3_Splice_Site_p.E653_splice NM_000400.3 NP_000391.1 P18074 ERCC2_HUMAN excision repair cross-complementing rodent repair deficiency, complementation group 2 731 cell cycle checkpoint|chromosome segregation|hair cell differentiation|induction of apoptosis|interspecies interaction between organisms|mRNA capping|nucleotide-excision repair, DNA damage removal|nucleotide-excision repair, DNA incision|positive regulation of transcription from RNA polymerase II promoter|positive regulation of viral transcription|protein phosphorylation|response to oxidative stress|termination of RNA polymerase I transcription|transcription elongation from RNA polymerase I promoter|transcription elongation from RNA polymerase II promoter|transcription initiation from RNA polymerase I promoter|transcription initiation from RNA polymerase II promoter|transcription-coupled nucleotide-excision repair|UV protection|viral reproduction cytoplasm|holo TFIIH complex|MMXD complex 5'-3' DNA helicase activity|ATP binding|ATP-dependent DNA helicase activity|DNA binding|iron-sulfur cluster binding|metal ion binding|protein C-terminus binding|protein N-terminus binding large_intestine(4)|lung(2)|ovary(1)|pancreas(1)|stomach(1) 9 Ovarian(192;0.0728)|all_neural(266;0.112) OV - Ovarian serous cystadenocarcinoma(262;0.0226) AGCTGATCCTCCTGCAGAGAA 0.627000 """Mis, N, F, S""" """skin basal cell, skin squamous cell, melanoma""" Nucleotide excision repair (NER) Xeroderma Pigmentosum 50 503 0 0 1 0 0 MLLT3 4300 broad.mit.edu 37 9 20414340 20414340 + Silent SNP G G A TCGA-IB-7647-01A-11D-2154-08 TCGA-IB-7647-10A-01D-2154-08 Untested Somatic Phase_I WXS none Illumina GAIIx d2579415-7e40-48ba-a59c-e5543b8097dc fae3bedd-75e3-4f2a-86fa-c7e2c4dd4880 g.chr9:20414340G>A ENST00000380338.4 - 5 790 c.504C>T c.(502-504)agC>agT p.S168S MLLT3_ENST00000475957.1_5'UTR|MLLT3_ENST00000429426.2_Silent_p.S165S|MLLT3_ENST00000355930.6_5'UTR NM_004529.2 NP_004520.2 P42568 AF9_HUMAN myeloid/lymphoid or mixed-lineage leukemia (trithorax homolog, Drosophila); translocated to, 3 168 Poly-Ser. regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus protein binding p.S168S(5) 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) tgctgctgctgctactgctgc 0.537000 T MLL ALL 22 420 0 0 1 0 0 OTOF 9381 broad.mit.edu 37 2 26702178 26702178 + Missense_Mutation SNP C C T TCGA-IB-7647-01A-11D-2154-08 TCGA-IB-7647-10A-01D-2154-08 Untested Somatic Phase_I WXS none Illumina GAIIx d2579415-7e40-48ba-a59c-e5543b8097dc fae3bedd-75e3-4f2a-86fa-c7e2c4dd4880 g.chr2:26702178C>T ENST00000272371.2 - 18 2294 c.2168G>A c.(2167-2169)cGc>cAc p.R723H OTOF_ENST00000403946.3_Missense_Mutation_p.R723H NM_194248.2 NP_919224.1 Q9HC10 OTOF_HUMAN otoferlin 723 cellular membrane fusion|sensory perception of sound|synaptic vesicle exocytosis basolateral plasma membrane|cell junction|cytosol|endoplasmic reticulum membrane|integral to membrane|membrane fraction|synaptic vesicle membrane calcium ion binding NS(1)|autonomic_ganglia(1)|breast(9)|central_nervous_system(4)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(14)|lung(35)|ovary(8)|pancreas(1)|prostate(5)|skin(5)|stomach(4)|upper_aerodigestive_tract(3)|urinary_tract(1) 106 Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215) GTAGAGGCGGCGGCGCTGGTC 0.652000 14 91 0 0 1 0 0 KCNA5 3741 broad.mit.edu 37 12 5153781 5153781 + Missense_Mutation SNP C C A TCGA-IB-7647-01A-11D-2154-08 TCGA-IB-7647-10A-01D-2154-08 Untested Somatic Phase_I WXS none Illumina GAIIx d2579415-7e40-48ba-a59c-e5543b8097dc fae3bedd-75e3-4f2a-86fa-c7e2c4dd4880 g.chr12:5153781C>A ENST00000252321.3 + 1 697 c.468C>A c.(466-468)ttC>ttA p.F156L NM_002234.3 NP_002225.2 P22460 KCNA5_HUMAN potassium voltage-gated channel, shaker-related subfamily, member 5 156 Golgi apparatus|voltage-gated potassium channel complex delayed rectifier potassium channel activity NS(1)|breast(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|liver(1)|lung(21)|ovary(5)|prostate(2)|upper_aerodigestive_tract(2) 52 TGCGCTACTTCGACCCCCTGA 0.652000 7 304 0.00307968 0.00311656 1 1 0 IGLC2 0 broad.mit.edu 37 22 23243367 23243367 + RNA SNP T T C rs8033 by1000genomes TCGA-IB-7647-01A-11D-2154-08 TCGA-IB-7647-10A-01D-2154-08 Untested Somatic Phase_I WXS none Illumina GAIIx d2579415-7e40-48ba-a59c-e5543b8097dc fae3bedd-75e3-4f2a-86fa-c7e2c4dd4880 g.chr22:23243367T>C ENST00000390323.2 + 0 212 CCAGCAGCTATCTGAGCCTGA 0.587000 7 282 0 0 1 0 0 KRAS 3845 broad.mit.edu 37 12 25398284 25398284 + Missense_Mutation SNP C C A rs121913529 TCGA-IB-7647-01A-11D-2154-08 TCGA-IB-7647-10A-01D-2154-08 Untested Somatic Phase_I WXS none Illumina GAIIx d2579415-7e40-48ba-a59c-e5543b8097dc fae3bedd-75e3-4f2a-86fa-c7e2c4dd4880 g.chr12:25398284C>A ENST00000311936.3 - 2 226 c.35G>T c.(34-36)gGt>gTt p.G12V KRAS_ENST00000256078.4_Missense_Mutation_p.G12V|KRAS_ENST00000557334.1_Missense_Mutation_p.G12V|KRAS_ENST00000556131.1_Missense_Mutation_p.G12V 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.G12D(8562)|p.G12V(5775)|p.G12A(1407)|p.G12F(46)|p.G12L(8)|p.G12I(4)|p.G12E(3)|p.G12W(3)|p.G12Y(2)|p.G12fs*3(1)|p.G12C(1)|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) GCCTACGCCACCAGCTCCAAC 0.348000 G12A(KMS28BM_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12A(KPNSI9S_AUTONOMIC_GANGLIA)|G12A(MM1S_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12A(NCIH1573_LUNG)|G12A(NCIH2009_LUNG)|G12A(RERFLCAD1_LUNG)|G12A(RPMI8226_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12A(SW1116_LARGE_INTESTINE)|G12D(AGS_STOMACH)|G12D(ASPC1_PANCREAS)|G12D(COLO678_LARGE_INTESTINE)|G12D(HEC1A_ENDOMETRIUM)|G12D(HEC50B_ENDOMETRIUM)|G12D(HEYA8_OVARY)|G12D(HPAC_PANCREAS)|G12D(HPAFII_PANCREAS)|G12D(KARPAS620_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12D(KOPN8_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12D(KP4_PANCREAS)|G12D(L33_PANCREAS)|G12D(LS180_LARGE_INTESTINE)|G12D(LS513_LARGE_INTESTINE)|G12D(MCAS_OVARY)|G12D(PANC0203_PANCREAS)|G12D(PANC0403_PANCREAS)|G12D(PANC0504_PANCREAS)|G12D(PANC0813_PANCREAS)|G12D(PANC1_PANCREAS)|G12D(PK1_PANCREAS)|G12D(PK59_PANCREAS)|G12D(SKLU1_LUNG)|G12D(SNUC2A_LARGE_INTESTINE)|G12D(SU8686_PANCREAS)|G12D(SUIT2_PANCREAS)|G12D(SW1990_PANCREAS)|G12V(A498_KIDNEY)|G12V(CAPAN2_PANCREAS)|G12V(CFPAC1_PANCREAS)|G12V(COLO668_LUNG)|G12V(CORL23_LUNG)|G12V(DANG_PANCREAS)|G12V(HCC56_LARGE_INTESTINE)|G12V(HUPT4_PANCREAS)|G12V(KP3_PANCREAS)|G12V(LCLC97TM1_LUNG)|G12V(NCIH2444_LUNG)|G12V(NCIH441_LUNG)|G12V(NCIH727_LUNG)|G12V(PANC0327_PANCREAS)|G12V(PATU8902_PANCREAS)|G12V(PATU8988S_PANCREAS)|G12V(QGP1_PANCREAS)|G12V(RCM1_LARGE_INTESTINE)|G12V(RERFLCAD2_LUNG)|G12V(RKN_OVARY)|G12V(SH10TC_STOMACH)|G12V(SHP77_LUNG)|G12V(SNGM_ENDOMETRIUM)|G12V(SW403_LARGE_INTESTINE)|G12V(SW480_LARGE_INTESTINE)|G12V(SW620_LARGE_INTESTINE)|G12V(SW900_LUNG)|G12V(YAPC_PANCREAS) 119 Mis """pancreatic, colorectal, lung, thyroid, AML, others""" Noonan syndrome;Cardiofaciocutaneous syndrome TSP Lung(1;<1E-08)|Multiple Myeloma(2;<1E-6) 9 94 3.09899e-07 3.25297e-07 1 1 0 NSRP1 84081 broad.mit.edu 37 17 28512093 28512093 + Missense_Mutation SNP G G A rs12947131 TCGA-IB-7647-01A-11D-2154-08 TCGA-IB-7647-10A-01D-2154-08 Untested Somatic Phase_I WXS none Illumina GAIIx d2579415-7e40-48ba-a59c-e5543b8097dc fae3bedd-75e3-4f2a-86fa-c7e2c4dd4880 g.chr17:28512093G>A ENST00000247026.5 + 7 1141 c.1078G>A c.(1078-1080)Gaa>Aaa p.E360K NSRP1_ENST00000540900.3_3'UTR NM_001261467.1|NM_032141.3 NP_001248396.1|NP_115517.1 Q9H0G5 NSRP1_HUMAN nuclear speckle splicing regulatory protein 1 360 developmental process|nucleocytoplasmic transport|regulation of alternative nuclear mRNA splicing, via spliceosome nuclear speck|ribonucleoprotein complex mRNA binding|protein binding autonomic_ganglia(1)|endometrium(2)|large_intestine(3)|lung(6)|ovary(1)|pancreas(1) 14 GAAGAGGCATGAACAGGAAGA 0.448000 5 150 0 0 1 0 0 NELL2 4753 broad.mit.edu 37 12 44917143 44917143 + Missense_Mutation SNP A A T TCGA-IB-7647-01A-11D-2154-08 TCGA-IB-7647-10A-01D-2154-08 Untested Somatic Phase_I WXS none Illumina GAIIx d2579415-7e40-48ba-a59c-e5543b8097dc fae3bedd-75e3-4f2a-86fa-c7e2c4dd4880 g.chr12:44917143A>T ENST00000429094.2 - 17 2433 c.1929T>A c.(1927-1929)gaT>gaA p.D643E NELL2_ENST00000549027.1_Missense_Mutation_p.D642E|NELL2_ENST00000452445.2_Missense_Mutation_p.D643E|NELL2_ENST00000551601.1_Missense_Mutation_p.D595E|NELL2_ENST00000437801.2_Missense_Mutation_p.D693E|NELL2_ENST00000333837.4_Missense_Mutation_p.D666E|NELL2_ENST00000395487.2_Missense_Mutation_p.D642E NM_001145108.1 NP_001138580.1 Q99435 NELL2_HUMAN NEL-like 2 (chicken) 643 VWFC 3. cell adhesion extracellular region calcium ion binding|protein binding|structural molecule activity NS(1)|breast(3)|central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(16)|lung(30)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2) 65 Lung SC(27;0.192) Lung NSC(34;0.144) GBM - Glioblastoma multiforme(48;0.092) TAACTTTTCCATCATGGATGC 0.413000 83 701 0 0 1 0 0 LINC00969 0 broad.mit.edu 37 3 195400728 195400728 + RNA SNP A A G rs12107841 by1000genomes TCGA-IB-7647-01A-11D-2154-08 TCGA-IB-7647-10A-01D-2154-08 Untested Somatic Phase_I WXS none Illumina GAIIx d2579415-7e40-48ba-a59c-e5543b8097dc fae3bedd-75e3-4f2a-86fa-c7e2c4dd4880 g.chr3:195400728A>G ENST00000445430.1 + 0 1324 GATTGTGCCCAGCCTGTACGC 0.587000 10 225 0 0 1 0 0 ZNF777 27153 broad.mit.edu 37 7 149129516 149129516 + Missense_Mutation SNP G G A TCGA-IB-7647-01A-11D-2154-08 TCGA-IB-7647-10A-01D-2154-08 Untested Somatic Phase_I WXS none Illumina GAIIx d2579415-7e40-48ba-a59c-e5543b8097dc fae3bedd-75e3-4f2a-86fa-c7e2c4dd4880 g.chr7:149129516G>A ENST00000247930.4 - 6 2170 c.1847C>T c.(1846-1848)gCg>gTg p.A616V NM_015694.2 NP_056509.2 Q9ULD5 ZN777_HUMAN zinc finger protein 777 616 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding large_intestine(5)|lung(17)|ovary(1)|skin(2)|urinary_tract(1) 26 Melanoma(164;0.165) OV - Ovarian serous cystadenocarcinoma(82;0.00358) CGGCTTGAGCGCGTGCTTGGG 0.672000 91 593 0 0 1 0 0 TECR 9524 broad.mit.edu 37 19 14674472 14674472 + Missense_Mutation SNP C C T TCGA-IB-7647-01A-11D-2154-08 TCGA-IB-7647-10A-01D-2154-08 Untested Somatic Phase_I WXS none Illumina GAIIx d2579415-7e40-48ba-a59c-e5543b8097dc fae3bedd-75e3-4f2a-86fa-c7e2c4dd4880 g.chr19:14674472C>T ENST00000436007.2 + 5 290 c.166C>T c.(166-168)Ccg>Tcg p.P56S TECR_ENST00000215567.5_Missense_Mutation_p.P41S|TECR_ENST00000600083.1_5'UTR|TECR_ENST00000596073.1_5'UTR|TECR_ENST00000596164.1_3'UTR Q9NZ01 TECR_HUMAN trans-2,3-enoyl-CoA reductase 41 fatty acid elongation|long-chain fatty-acyl-CoA biosynthetic process|triglyceride biosynthetic process|very long-chain fatty acid biosynthetic process integral to endoplasmic reticulum membrane trans-2-enoyl-CoA reductase (NADPH) activity|very long-chain-acyl-CoA dehydrogenase activity endometrium(1)|large_intestine(1)|ovary(1) 3 CCCCGCAGATCCGCAGTGGTA 0.697000 12 200 0 0 1 0 0 TMCC2 9911 broad.mit.edu 37 1 205241064 205241064 + Missense_Mutation SNP A A G TCGA-IB-7647-01A-11D-2154-08 TCGA-IB-7647-10A-01D-2154-08 Untested Somatic Phase_I WXS none Illumina GAIIx d2579415-7e40-48ba-a59c-e5543b8097dc fae3bedd-75e3-4f2a-86fa-c7e2c4dd4880 g.chr1:205241064A>G ENST00000358024.3 + 5 2331 c.1942A>G c.(1942-1944)Aac>Gac p.N648D TMCC2_ENST00000329800.7_Missense_Mutation_p.N408D|TMCC2_ENST00000545499.1_Missense_Mutation_p.N570D|TMCC2_ENST00000495538.1_3'UTR|TMCC2_ENST00000330675.7_Missense_Mutation_p.N423D NM_014858.3 NP_055673.2 O75069 TMCC2_HUMAN transmembrane and coiled-coil domain family 2 648 integral to membrane protein binding breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(5)|liver(2)|lung(3)|pancreas(1)|skin(1)|urinary_tract(1) 20 Breast(84;0.0871) BRCA - Breast invasive adenocarcinoma(75;0.117) CAAGTTCATCAACGTGATCCT 0.627000 70 512 0 0 1 0 0 SBSN 374897 broad.mit.edu 37 19 36018251 36018251 + Silent SNP T T A TCGA-IB-7647-01A-11D-2154-08 TCGA-IB-7647-10A-01D-2154-08 Untested Somatic Phase_I WXS none Illumina GAIIx d2579415-7e40-48ba-a59c-e5543b8097dc fae3bedd-75e3-4f2a-86fa-c7e2c4dd4880 g.chr19:36018251T>A ENST00000452271.2 - 1 961 c.933A>T c.(931-933)gcA>gcT p.A311A SBSN_ENST00000518157.1_Intron NM_001166034.1 NP_001159506.1 Q6UWP8 SBSN_HUMAN suprabasin 184 extracellular region large_intestine(5)|lung(6)|ovary(1)|prostate(2) 14 all_lung(56;1.62e-08)|Lung NSC(56;2.47e-08)|Esophageal squamous(110;0.162) LUSC - Lung squamous cell carcinoma(66;0.0724) CAAATCTCCCTGCCTCATTTC 0.657000 5 52 0 0 1 0 0 ANKRD20A8P 0 broad.mit.edu 37 2 95522727 95522727 + RNA SNP C C A TCGA-IB-7647-01A-11D-2154-08 TCGA-IB-7647-10A-01D-2154-08 Untested Somatic Phase_I WXS none Illumina GAIIx d2579415-7e40-48ba-a59c-e5543b8097dc fae3bedd-75e3-4f2a-86fa-c7e2c4dd4880 g.chr2:95522727C>A ENST00000432432.2 - 0 300 NR_040113.1 p.R64L(2) CTGCTTGTCCCGGGCGTCCAG 0.731000 6 198 4.68919e-08 4.98411e-08 1 1 0 LDLRAD3 143458 broad.mit.edu 37 11 36250849 36250849 + Missense_Mutation SNP G G A TCGA-IB-7647-01A-11D-2154-08 TCGA-IB-7647-10A-01D-2154-08 Untested Somatic Phase_I WXS none Illumina GAIIx d2579415-7e40-48ba-a59c-e5543b8097dc fae3bedd-75e3-4f2a-86fa-c7e2c4dd4880 g.chr11:36250849G>A ENST00000315571.5 + 6 961 c.940G>A c.(940-942)Gtg>Atg p.V314M LDLRAD3_ENST00000528989.1_Missense_Mutation_p.V265M|LDLRAD3_ENST00000524419.1_Missense_Mutation_p.V304M NM_174902.2 NP_777562.1 Q86YD5 LRAD3_HUMAN low density lipoprotein receptor class A domain containing 3 314 integral to membrane receptor activity central_nervous_system(1)|endometrium(1)|large_intestine(4)|lung(14)|prostate(7)|skin(1) 28 all_lung(20;0.089)|Lung NSC(22;0.175)|all_epithelial(35;0.177) all_hematologic(20;0.124) CCTCCTGAGCGTGGAAGACAC 0.662000 16 931 0 0 1 0 0 MYT1 4661 broad.mit.edu 37 20 62851191 62851191 + Silent SNP C C T rs117853857 by1000genomes TCGA-IB-7647-01A-11D-2154-08 TCGA-IB-7647-10A-01D-2154-08 Untested Somatic Phase_I WXS none Illumina GAIIx d2579415-7e40-48ba-a59c-e5543b8097dc fae3bedd-75e3-4f2a-86fa-c7e2c4dd4880 g.chr20:62851191C>T ENST00000536311.1 + 13 2542 c.2178C>T c.(2176-2178)gaC>gaT p.D726D MYT1_ENST00000360149.4_Silent_p.D401D|MYT1_ENST00000328439.1_Silent_p.D699D Q01538 MYT1_HUMAN myelin transcription factor 1 699 cell differentiation|nervous system development nucleus DNA binding|protein binding|sequence-specific DNA binding transcription factor activity|zinc ion binding breast(4)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(12)|liver(1)|lung(17)|ovary(5)|prostate(2)|skin(2)|soft_tissue(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 55 all_cancers(38;1.82e-11)|all_epithelial(29;3.3e-13)|Lung NSC(23;5.21e-10)|all_lung(23;1.92e-09) AGTCTCCCGACGCCTCCCAGC 0.657000 8 83 0 0 1 0 0 TSSK6 83983 broad.mit.edu 37 19 19625658 19625658 + Silent SNP G G A TCGA-IB-7647-01A-11D-2154-08 TCGA-IB-7647-10A-01D-2154-08 Untested Somatic Phase_I WXS none Illumina GAIIx d2579415-7e40-48ba-a59c-e5543b8097dc fae3bedd-75e3-4f2a-86fa-c7e2c4dd4880 g.chr19:19625658G>A ENST00000360913.3 - 1 1180 c.579C>T c.(577-579)taC>taT p.Y193Y TSSK6_ENST00000585580.3_Silent_p.Y193Y Q9BXA6 TSSK6_HUMAN testis-specific serine kinase 6 193 Protein kinase. multicellular organismal development|sperm chromatin condensation ATP binding|magnesium ion binding|protein serine/threonine kinase activity endometrium(2)|kidney(1)|large_intestine(1)|lung(8)|prostate(2)|stomach(1)|upper_aerodigestive_tract(1) 16 TCCACACATCGTACTTCTTGG 0.662000 22 156 0 0 1 0 0 TP53 7157 broad.mit.edu 37 17 7577539 7577539 + Missense_Mutation SNP G G A rs121912651 TCGA-IB-7647-01A-11D-2154-08 TCGA-IB-7647-10A-01D-2154-08 Untested Somatic Phase_I WXS none Illumina GAIIx d2579415-7e40-48ba-a59c-e5543b8097dc fae3bedd-75e3-4f2a-86fa-c7e2c4dd4880 g.chr17:7577539G>A ENST00000420246.2 - 7 874 c.742C>T c.(742-744)Cgg>Tgg p.R248W TP53_ENST00000413465.2_Missense_Mutation_p.R248W|TP53_ENST00000269305.4_Missense_Mutation_p.R248W|TP53_ENST00000455263.2_Missense_Mutation_p.R248W|TP53_ENST00000445888.2_Missense_Mutation_p.R248W|TP53_ENST00000359597.4_Missense_Mutation_p.R248W NM_001126114.2|NM_001276696.1 NP_001119586.1|NP_001263625.1 P04637 P53_HUMAN tumor protein p53 248 Interaction with AXIN1 (By similarity).|Interaction with HIPK1 (By similarity).|Interacts with the 53BP2 SH3 domain. NR -> IP (in a sporadic cancer; somatic mutation).|NR -> KW (in sporadic cancers; somatic mutation).|R -> C (in a sporadic cancer; somatic mutation).|R -> G (in sporadic cancers; somatic mutation).|R -> L (in sporadic cancers; somatic mutation).|R -> P (in sporadic cancers; somatic mutation).|R -> Q (in LFS; germline mutation and in sporadic cancers; somatic mutation; dbSNP:rs11540652).|R -> W (in LFS; 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.R248W(544)|p.R155W(28)|p.R248G(12)|p.0?(8)|p.?(5)|p.N247_R248delNR(2)|p.R248fs*16(2)|p.N247_R248>KW(2)|p.M246_P250delMNRRP(2)|p.R248fs*97(2)|p.R248R(2)|p.R248fs*>39(1)|p.R248_P250delRRP(1)|p.unknown(1)|p.N247_R249delNRR(1)|p.N247_P250delNRRP(1)|p.R248C(1)|p.G245fs*14(1)|p.N247_R248>IP(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) ATGGGCCTCCGGTTCATGCCG 0.577000 R248W(786O_KIDNEY)|R248W(CAS1_CENTRAL_NERVOUS_SYSTEM)|R248W(COLO320_LARGE_INTESTINE)|R248W(COLO680N_OESOPHAGUS)|R248W(DB_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248W(GCT_SOFT_TISSUE)|R248W(HCC2157_BREAST)|R248W(JIMT1_BREAST)|R248W(KO52_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248W(LUDLU1_LUNG)|R248W(LXF289_LUNG)|R248W(MIAPACA2_PANCREAS)|R248W(RD_SOFT_TISSUE)|R248W(SW837_LARGE_INTESTINE)|R248W(VCAP_PROSTATE) 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) 37 216 0 0 1 0 0 MAGEL2 54551 broad.mit.edu 37 15 23890566 23890566 + Missense_Mutation SNP T T C TCGA-IB-7647-01A-11D-2154-08 TCGA-IB-7647-10A-01D-2154-08 Untested Somatic Phase_I WXS none Illumina GAIIx d2579415-7e40-48ba-a59c-e5543b8097dc fae3bedd-75e3-4f2a-86fa-c7e2c4dd4880 g.chr15:23890566T>C ENST00000532292.1 - 1 609 c.515A>G c.(514-516)aAc>aGc p.N172S NM_019066.4 NP_061939.3 MAGE-like 2 breast(1)|endometrium(1)|large_intestine(2)|lung(2)|upper_aerodigestive_tract(1) 7 all_cancers(20;1.78e-24)|all_epithelial(15;7.75e-22)|Lung NSC(15;2.96e-18)|all_lung(15;2.8e-17)|Breast(32;0.000625)|Colorectal(260;0.14) all cancers(64;1.84e-06)|Epithelial(43;1.2e-05)|BRCA - Breast invasive adenocarcinoma(123;0.00177) GGCAGGCAGGTTTTTCCAGGC 0.587000 6 212 0 0 1 0 0 ADH1A 124 broad.mit.edu 37 4 100205883 100205883 + Silent SNP A A G TCGA-IB-7647-01A-11D-2154-08 TCGA-IB-7647-10A-01D-2154-08 Untested Somatic Phase_I WXS none Illumina GAIIx d2579415-7e40-48ba-a59c-e5543b8097dc fae3bedd-75e3-4f2a-86fa-c7e2c4dd4880 g.chr4:100205883A>G ENST00000209668.2 - 4 450 c.337T>C c.(337-339)Ttg>Ctg p.L113L RP11-696N14.1_ENST00000500358.2_RNA NM_000667.3 NP_000658.1 P07327 ADH1A_HUMAN alcohol dehydrogenase 1A (class I), alpha polypeptide 113 ethanol oxidation|transcription, DNA-dependent|xenobiotic metabolic process cytosol alcohol dehydrogenase activity, zinc-dependent|protein binding|zinc ion binding endometrium(2)|kidney(2)|large_intestine(3)|lung(11)|ovary(1)|prostate(1)|skin(4)|stomach(1) 25 OV - Ovarian serous cystadenocarcinoma(123;9.56e-08) Fomepizole(DB01213)|NADH(DB00157) TCGTTTTTCAAGCAGTAGTTG 0.433000 52 292 0 0 1 0 0 SNHG14 0 broad.mit.edu 37 15 25287181 25287181 + RNA SNP G G A TCGA-IB-7647-01A-11D-2154-08 TCGA-IB-7647-10A-01D-2154-08 Untested Somatic Phase_I WXS none Illumina GAIIx d2579415-7e40-48ba-a59c-e5543b8097dc fae3bedd-75e3-4f2a-86fa-c7e2c4dd4880 g.chr15:25287181G>A ENST00000552781.1 + 0 328 SNORD109A_ENST00000459128.1_RNA ATGTCAATCTGAGGTCCAGAT 0.478000 13 172 0 0 1 0 0 TSTA3 7264 broad.mit.edu 37 8 144698284 144698284 + Missense_Mutation SNP C C T TCGA-IB-7647-01A-11D-2154-08 TCGA-IB-7647-10A-01D-2154-08 Untested Somatic Phase_I WXS none Illumina GAIIx d2579415-7e40-48ba-a59c-e5543b8097dc fae3bedd-75e3-4f2a-86fa-c7e2c4dd4880 g.chr8:144698284C>T ENST00000425753.2 - 3 356 c.253G>A c.(253-255)Gac>Aac p.D85N TSTA3_ENST00000529064.1_Missense_Mutation_p.D85N NM_003313.3 NP_003304.1 Q13630 FCL_HUMAN tissue specific transplantation antigen P35B 85 'de novo' GDP-L-fucose biosynthetic process|leukocyte cell-cell adhesion coenzyme binding|electron carrier activity|GDP-4-dehydro-D-rhamnose reductase activity|GDP-L-fucose synthase activity|isomerase activity breast(1)|endometrium(1)|large_intestine(1)|lung(3)|pancreas(1)|prostate(1)|skin(1) 9 all_cancers(97;3.74e-11)|all_epithelial(106;2.62e-09)|Lung NSC(106;0.00013)|all_lung(105;0.000374)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155) OV - Ovarian serous cystadenocarcinoma(54;1.17e-38)|Epithelial(56;7.17e-37)|all cancers(56;2.46e-32)|Colorectal(110;0.134)|BRCA - Breast invasive adenocarcinoma(115;0.239) NADH(DB00157) ACCCAGAAGTCCAAATTGTAT 0.562000 90 493 0 0 1 0 0 KLC3 147700 broad.mit.edu 37 19 45853603 45853603 + Nonsense_Mutation SNP C C G TCGA-IB-7647-01A-11D-2154-08 TCGA-IB-7647-10A-01D-2154-08 Untested Somatic Phase_I WXS none Illumina GAIIx d2579415-7e40-48ba-a59c-e5543b8097dc fae3bedd-75e3-4f2a-86fa-c7e2c4dd4880 g.chr19:45853603C>G ENST00000470402.1 + 8 1290 c.1190C>G c.(1189-1191)tCa>tGa p.S397* KLC3_ENST00000585434.1_Nonsense_Mutation_p.S382*|ERCC2_ENST00000391945.4_3'UTR|KLC3_ENST00000391946.2_Nonsense_Mutation_p.S383* Q6P597 KLC3_HUMAN kinesin light chain 3 383 cytoplasm|kinesin complex|microtubule microtubule motor activity breast(1)|central_nervous_system(2)|endometrium(2)|large_intestine(1)|lung(1)|ovary(1) 8 Ovarian(192;0.0728)|all_neural(266;0.112) OV - Ovarian serous cystadenocarcinoma(262;0.0226) CCGCAGGCCTCAGCCTACCTG 0.532000 17 270 0 0 1 0 0 MUC4 4585 broad.mit.edu 37 3 195508343 195508343 + Missense_Mutation SNP A A T TCGA-IB-7647-01A-11D-2154-08 TCGA-IB-7647-10A-01D-2154-08 Untested Somatic Phase_I WXS none Illumina GAIIx d2579415-7e40-48ba-a59c-e5543b8097dc fae3bedd-75e3-4f2a-86fa-c7e2c4dd4880 g.chr3:195508343A>T ENST00000463781.3 - 2 10567 c.10108T>A c.(10108-10110)Tcc>Acc p.S3370T MUC4_ENST00000475231.1_Missense_Mutation_p.S3370T|MUC4_ENST00000349607.4_Intron|MUC4_ENST00000346145.4_Intron NM_018406.6 NP_060876.5 Q99102 MUC4_HUMAN mucin 4, cell surface associated 147 cell-matrix adhesion integral to plasma membrane|proteinaceous extracellular matrix ErbB-2 class receptor binding|extracellular matrix constituent, lubricant activity NS(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(5)|lung(23)|ovary(3)|prostate(8)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 51 all_cancers(143;1.11e-08)|Ovarian(172;0.0634)|Breast(254;0.206) Lung NSC(153;0.191) Epithelial(36;3.72e-24)|all cancers(36;6.22e-22)|OV - Ovarian serous cystadenocarcinoma(49;1.1e-18)|Lung(62;4.65e-05)|LUSC - Lung squamous cell carcinoma(58;5.31e-05) GBM - Glioblastoma multiforme(46;2.37e-05) TCACCTGTGGAAGCTGAGGAA 0.587000 5 19 0 0 1 0 0 CAPS2 84698 broad.mit.edu 37 12 75687069 75687069 + Nonsense_Mutation SNP G G A TCGA-IB-7647-01A-11D-2154-08 TCGA-IB-7647-10A-01D-2154-08 Untested Somatic Phase_I WXS none Illumina GAIIx d2579415-7e40-48ba-a59c-e5543b8097dc fae3bedd-75e3-4f2a-86fa-c7e2c4dd4880 g.chr12:75687069G>A ENST00000393284.3 - 12 1085 c.484C>T c.(484-486)Cga>Tga p.R162* RP11-560G2.1_ENST00000549953.1_RNA|CAPS2_ENST00000409445.3_Nonsense_Mutation_p.R394*|CAPS2_ENST00000409004.1_5'UTR|CAPS2_ENST00000409799.1_Nonsense_Mutation_p.R312*|CAPS2_ENST00000442339.2_5'UTR Q9BXY5 CAYP2_HUMAN calcyphosine 2 394 calcium ion binding endometrium(2)|large_intestine(1)|lung(4)|ovary(2)|skin(1) 10 TTTGTGATTCGGAGTTTAAGT 0.318000 11 250 0 0 1 0 0 LMLN 89782 broad.mit.edu 37 3 197707289 197707289 + Silent SNP C C T rs146220433 TCGA-IB-7647-01A-11D-2154-08 TCGA-IB-7647-10A-01D-2154-08 Untested Somatic Phase_I WXS none Illumina GAIIx d2579415-7e40-48ba-a59c-e5543b8097dc fae3bedd-75e3-4f2a-86fa-c7e2c4dd4880 g.chr3:197707289C>T ENST00000330198.4 + 6 664 c.642C>T c.(640-642)taC>taT p.Y214Y LMLN_ENST00000482695.1_Silent_p.Y162Y|LMLN_ENST00000420910.2_Silent_p.Y214Y|LMLN_ENST00000332636.5_Silent_p.Y162Y NM_033029.3 NP_149018.2 Q96KR4 LMLN_HUMAN leishmanolysin-like (metallopeptidase M8 family) 214 cell adhesion|cell division|mitosis|proteolysis cytoplasm|membrane metalloendopeptidase activity|zinc ion binding endometrium(3)|kidney(2)|large_intestine(4)|lung(12)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1) 25 all_cancers(143;1.15e-09)|Ovarian(172;0.0418)|Breast(254;0.0976) Lung NSC(153;0.132) Epithelial(36;9.84e-24)|all cancers(36;3.18e-22)|OV - Ovarian serous cystadenocarcinoma(49;5.35e-19)|LUSC - Lung squamous cell carcinoma(58;6.94e-07)|Lung(62;9.92e-07) GBM - Glioblastoma multiforme(93;0.111) TTGTTCTTTACGTTGGTGCTC 0.527000 25 781 0 0 1 0 0 NLRC5 84166 broad.mit.edu 37 16 57060803 57060803 + Missense_Mutation SNP G G A TCGA-IB-7647-01A-11D-2154-08 TCGA-IB-7647-10A-01D-2154-08 Untested Somatic Phase_I WXS none Illumina GAIIx d2579415-7e40-48ba-a59c-e5543b8097dc fae3bedd-75e3-4f2a-86fa-c7e2c4dd4880 g.chr16:57060803G>A ENST00000436936.1 + 6 2173 c.1948G>A c.(1948-1950)Gac>Aac p.D650N NLRC5_ENST00000539144.1_Missense_Mutation_p.D650N|NLRC5_ENST00000262510.6_Missense_Mutation_p.D650N|NLRC5_ENST00000308149.7_Missense_Mutation_p.D650N Q86WI3 NLRC5_HUMAN NLR family, CARD domain containing 5 650 defense response to virus|innate immune response|negative regulation of NF-kappaB transcription factor activity|negative regulation of type I interferon production|negative regulation of type I interferon-mediated signaling pathway|positive regulation of interferon-gamma-mediated signaling pathway|positive regulation of MHC class I biosynthetic process|positive regulation of transcription from RNA polymerase II promoter|positive regulation of type I interferon-mediated signaling pathway|regulation of kinase activity cytosol|nucleus ATP binding|protein binding|RNA polymerase II core promoter sequence-specific DNA binding NS(2)|breast(2)|central_nervous_system(3)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(16)|lung(21)|ovary(8)|prostate(1)|skin(6)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(2) 75 all_neural(199;0.225) GACCTGCACCGACCTGGCCAC 0.602000 20 416 0 0 1 0 0 PGAP2 27315 broad.mit.edu 37 11 3838588 3838588 + Silent SNP G G A TCGA-IB-7647-01A-11D-2154-08 TCGA-IB-7647-10A-01D-2154-08 Untested Somatic Phase_I WXS none Illumina GAIIx d2579415-7e40-48ba-a59c-e5543b8097dc fae3bedd-75e3-4f2a-86fa-c7e2c4dd4880 g.chr11:3838588G>A ENST00000278243.4 + 3 372 c.171G>A c.(169-171)acG>acA p.T57T PGAP2_ENST00000532017.1_Intron|PGAP2_ENST00000463452.2_Intron|AC090587.2_ENST00000507938.1_RNA|PGAP2_ENST00000493547.2_Intron|PGAP2_ENST00000496834.2_Intron|PGAP2_ENST00000396991.2_Silent_p.T57T|PGAP2_ENST00000479072.1_Intron|PGAP2_ENST00000465307.2_Intron|PGAP2_ENST00000396993.4_Intron|PGAP2_ENST00000300730.6_Intron|PGAP2_ENST00000396986.2_Intron NM_014489.3 NP_055304.1 Q9UHJ9 PGAP2_HUMAN post-GPI attachment to proteins 2 57 GPI anchor biosynthetic process endoplasmic reticulum membrane|Golgi membrane|integral to membrane protein transporter activity NS(2)|endometrium(1)|kidney(1)|large_intestine(4)|lung(2)|urinary_tract(1) 11 CTTAGGCCACGCCCTGCAGGA 0.592000 55 422 0 0 1 0 0 PARP14 54625 broad.mit.edu 37 3 122422822 122422822 + Silent SNP C C T TCGA-IB-7647-01A-11D-2154-08 TCGA-IB-7647-10A-01D-2154-08 Untested Somatic Phase_I WXS none Illumina GAIIx d2579415-7e40-48ba-a59c-e5543b8097dc fae3bedd-75e3-4f2a-86fa-c7e2c4dd4880 g.chr3:122422822C>T ENST00000474629.2 + 7 3581 c.3315C>T c.(3313-3315)ctC>ctT p.L1105L NM_017554.2 NP_060024.2 Q460N5 PAR14_HUMAN poly (ADP-ribose) polymerase family, member 14 1105 Macro 2. regulation of transcription, DNA-dependent|transcription, DNA-dependent cytoplasm|nucleus|plasma membrane NAD+ ADP-ribosyltransferase activity NS(2)|breast(5)|cervix(2)|endometrium(7)|kidney(5)|large_intestine(8)|lung(14)|ovary(2)|pancreas(1)|prostate(2)|skin(1)|urinary_tract(1) 50 GBM - Glioblastoma multiforme(114;0.0531) CATCTTCACTCAAGGTTGGGC 0.483000 8 443 0 0 1 0 0 KLC3 147700 broad.mit.edu 37 19 45853629 45853629 + Nonsense_Mutation SNP C C T TCGA-IB-7647-01A-11D-2154-08 TCGA-IB-7647-10A-01D-2154-08 Untested Somatic Phase_I WXS none Illumina GAIIx d2579415-7e40-48ba-a59c-e5543b8097dc fae3bedd-75e3-4f2a-86fa-c7e2c4dd4880 g.chr19:45853629C>T ENST00000470402.1 + 8 1316 c.1216C>T c.(1216-1218)Caa>Taa p.Q406* KLC3_ENST00000585434.1_Nonsense_Mutation_p.Q391*|ERCC2_ENST00000391945.4_3'UTR|KLC3_ENST00000391946.2_Nonsense_Mutation_p.Q392* Q6P597 KLC3_HUMAN kinesin light chain 3 392 cytoplasm|kinesin complex|microtubule microtubule motor activity breast(1)|central_nervous_system(2)|endometrium(2)|large_intestine(1)|lung(1)|ovary(1) 8 Ovarian(192;0.0728)|all_neural(266;0.112) OV - Ovarian serous cystadenocarcinoma(262;0.0226) GAACAAGTATCAACAAGCGGA 0.567000 28 301 0 0 1 0 0 GPR45 11250 broad.mit.edu 37 2 105858390 105858390 + Silent SNP G G A TCGA-IB-7647-01A-11D-2154-08 TCGA-IB-7647-10A-01D-2154-08 Untested Somatic Phase_I WXS none Illumina GAIIx d2579415-7e40-48ba-a59c-e5543b8097dc fae3bedd-75e3-4f2a-86fa-c7e2c4dd4880 g.chr2:105858390G>A ENST00000258456.1 + 1 191 c.75G>A c.(73-75)ggG>ggA p.G25G NM_007227.3 NP_009158.3 Q9Y5Y3 GPR45_HUMAN G protein-coupled receptor 45 25 integral to membrane|plasma membrane G-protein coupled receptor activity|protein binding breast(1)|central_nervous_system(1)|endometrium(1)|kidney(3)|large_intestine(8)|lung(10)|ovary(1)|prostate(1)|stomach(1)|urinary_tract(1) 28 CAGACTCGGGGTCCACCCAGT 0.602000 26 406 0 0 1 0 0 POU4F1 5457 broad.mit.edu 37 13 79175754 79175754 + Silent SNP G G T TCGA-IB-7647-01A-11D-2154-08 TCGA-IB-7647-10A-01D-2154-08 Untested Somatic Phase_I WXS none Illumina GAIIx d2579415-7e40-48ba-a59c-e5543b8097dc fae3bedd-75e3-4f2a-86fa-c7e2c4dd4880 g.chr13:79175754G>T ENST00000377208.5 - 2 1267 c.1056C>A c.(1054-1056)ggC>ggA p.G352G RNF219-AS1_ENST00000606124.1_RNA|RNF219-AS1_ENST00000560209.2_RNA|RNF219-AS1_ENST00000607860.1_RNA|RNF219-AS1_ENST00000444769.3_RNA|RNF219-AS1_ENST00000607205.1_RNA|RNF219-AS1_ENST00000430549.2_RNA|RNF219-AS1_ENST00000607220.1_RNA|RNF219-AS1_ENST00000606376.1_RNA|RNF219-AS1_ENST00000560584.2_RNA|RNF219-AS1_ENST00000606429.1_RNA NM_006237.3 NP_006228.3 Q01851 PO4F1_HUMAN POU class 4 homeobox 1 352 axonogenesis|regulation of transcription from RNA polymerase II promoter|synapse assembly nucleus sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity p.G352G(1) central_nervous_system(1)|cervix(1)|endometrium(4)|large_intestine(4)|lung(5)|ovary(1) 16 Acute lymphoblastic leukemia(28;0.0279)|Breast(118;0.0848) GBM - Glioblastoma multiforme(99;0.129) TCTTCTCGCCGCCGTTGAAGA 0.652000 10 187 6.40141e-05 6.67802e-05 1 1 0 MAGEB16 139604 broad.mit.edu 37 X 35820358 35820358 + Silent SNP C C T TCGA-IB-7647-01A-11D-2154-08 TCGA-IB-7647-10A-01D-2154-08 Untested Somatic Phase_I WXS none Illumina GAIIx d2579415-7e40-48ba-a59c-e5543b8097dc fae3bedd-75e3-4f2a-86fa-c7e2c4dd4880 g.chrX:35820358C>T ENST00000399989.1 + 2 324 c.45C>T c.(43-45)caC>caT p.H15H MAGEB16_ENST00000399985.1_Silent_p.H15H|MAGEB16_ENST00000399987.1_Silent_p.H15H|MAGEB16_ENST00000399988.1_Silent_p.H15H|MAGEB16_ENST00000399992.1_Silent_p.H47H NM_001099921.1 NP_001093391.1 A2A368 MAGBG_HUMAN melanoma antigen family B, 16 15 breast(2)|endometrium(1)|kidney(2)|large_intestine(2)|lung(16)|ovary(2)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1) 31 ATGATCAGCACCTTCAGACCT 0.572000 22 116 0 0 1 0 0 NFATC2 4773 broad.mit.edu 37 20 50140613 50140613 + Missense_Mutation SNP G G A TCGA-IB-7647-01A-11D-2154-08 TCGA-IB-7647-10A-01D-2154-08 Untested Somatic Phase_I WXS none Illumina GAIIx d2579415-7e40-48ba-a59c-e5543b8097dc fae3bedd-75e3-4f2a-86fa-c7e2c4dd4880 g.chr20:50140613G>A ENST00000371564.3 - 2 386 c.167C>T c.(166-168)tCc>tTc p.S56F NFATC2_ENST00000414705.1_Missense_Mutation_p.S36F|NFATC2_ENST00000396009.3_Missense_Mutation_p.S56F NM_001258296.1|NM_012340.4 NP_001245225.1|NP_036472.2 Q13469 NFAC2_HUMAN nuclear factor of activated T-cells, cytoplasmic, calcineurin-dependent 2 56 B cell receptor signaling pathway|positive regulation of B cell proliferation|response to DNA damage stimulus|response to drug actin cytoskeleton|nucleus|plasma membrane protein binding|sequence-specific DNA binding transcription factor activity EWSR1/NFATC2(9) breast(2)|endometrium(7)|kidney(1)|large_intestine(7)|lung(25)|ovary(2)|prostate(2)|skin(5)|stomach(1)|urinary_tract(1) 53 Hepatocellular(150;0.248) TGCGGGTCCGGAGGGTGGGCT 0.597000 20 393 0 0 1 0 0 DNAJC11 55735 broad.mit.edu 37 1 6727803 6727804 + Frame_Shift_Del DEL TC TC - TCGA-IB-7647-01A-11D-2154-08 TCGA-IB-7647-10A-01D-2154-08 Untested Somatic Phase_I WXS none Illumina GAIIx d2579415-7e40-48ba-a59c-e5543b8097dc fae3bedd-75e3-4f2a-86fa-c7e2c4dd4880 g.chr1:6727803_6727804delTC ENST00000377577.5 - 4 466_467 c.343_344delGA c.(343-345)afs p.E116fs DNAJC11_ENST00000294401.7_Frame_Shift_Del_p.E116fs|DNAJC11_ENST00000542246.1_Frame_Shift_Del_p.E78fs|DNAJC11_ENST00000377573.5_Frame_Shift_Del_p.E26fs|DNAJC11_ENST00000349363.6_Frame_Shift_Del_p.E78fs NM_018198.3 NP_060668.2 Q9NVH1 DJC11_HUMAN DnaJ (Hsp40) homolog, subfamily C, member 11 116 protein folding heat shock protein binding|unfolded protein binding NS(1)|breast(2)|endometrium(4)|kidney(2)|large_intestine(11)|lung(8)|ovary(2)|skin(1)|urinary_tract(1) 32 Ovarian(185;0.0265)|all_lung(157;0.154) all_cancers(23;1.97e-27)|all_epithelial(116;1.76e-17)|all_lung(118;2.27e-05)|Lung NSC(185;9.97e-05)|Renal(390;0.00188)|Breast(487;0.00289)|Colorectal(325;0.00342)|Hepatocellular(190;0.0218)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.156) Colorectal(212;2.34e-07)|COAD - Colon adenocarcinoma(227;2.05e-05)|Kidney(185;7.67e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000639)|KIRC - Kidney renal clear cell carcinoma(229;0.00128)|STAD - Stomach adenocarcinoma(132;0.00179)|READ - Rectum adenocarcinoma(331;0.0649) TCTCCTCTCTTCTCTCTCTCTC 0.505 12 285 --- --- --- --- SRSF4 6429 broad.mit.edu 37 1 29475219 29475221 + In_Frame_Del DEL CTT CTT - rs138237342 by1000genomes TCGA-IB-7647-01A-11D-2154-08 TCGA-IB-7647-10A-01D-2154-08 Untested Somatic Phase_I WXS none Illumina GAIIx d2579415-7e40-48ba-a59c-e5543b8097dc fae3bedd-75e3-4f2a-86fa-c7e2c4dd4880 g.chr1:29475219_29475221delCTT ENST00000373795.4 - 6 1420_1422 c.1186_1188delAAG c.(1186-1188)del p.K396del SRSF4_ENST00000466448.1_5'UTR|SRSF4_ENST00000546138.1_3'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 19 812 --- --- --- --- ZBTB8A 653121 broad.mit.edu 37 1 33065979 33065981 + In_Frame_Del DEL GAA GAA - TCGA-IB-7647-01A-11D-2154-08 TCGA-IB-7647-10A-01D-2154-08 Untested Somatic Phase_I WXS none Illumina GAIIx d2579415-7e40-48ba-a59c-e5543b8097dc fae3bedd-75e3-4f2a-86fa-c7e2c4dd4880 g.chr1:33065979_33065981delGAA ENST00000373510.4 + 5 1514_1516 c.1285_1287delGAA c.(1285-1287)del p.E433del ZBTB8OS_ENST00000341885.5_Intron|RP1-27O5.3_ENST00000480336.1_3'UTR|ZBTB8A_ENST00000316459.4_3'UTR NM_001040441.1 NP_001035531.1 Q96BR9 ZBT8A_HUMAN zinc finger and BTB domain containing 8A 433 Poly-Glu. regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding cervix(2)|large_intestine(2)|lung(2)|prostate(1) 7 TGATGATAGTGAAGAAGAAGAAG 0.414 9 422 --- --- --- --- TMCO2 127391 broad.mit.edu 37 1 40713708 40713709 + Frame_Shift_Del DEL TC TC - TCGA-IB-7647-01A-11D-2154-08 TCGA-IB-7647-10A-01D-2154-08 Untested Somatic Phase_I WXS none Illumina GAIIx d2579415-7e40-48ba-a59c-e5543b8097dc fae3bedd-75e3-4f2a-86fa-c7e2c4dd4880 g.chr1:40713708_40713709delTC ENST00000372766.3 + 1 136_137 c.43_44delTC c.(43-45)tfs p.S15fs TMCO2_ENST00000468258.1_Intron NM_001008740.3 NP_001008740.1 Q7Z6W1 TMCO2_HUMAN transmembrane and coiled-coil domains 2 15 integral to membrane kidney(1)|large_intestine(3)|lung(1)|ovary(1) 6 Lung NSC(20;4.38e-06)|Ovarian(52;0.00167)|all_hematologic(146;0.0501)|Acute lymphoblastic leukemia(166;0.074) Myeloproliferative disorder(586;0.0255) OV - Ovarian serous cystadenocarcinoma(33;6.3e-18) CCTCTTAGAGTCTCTCTCTCTC 0.406 10 1321 --- --- --- --- CLCA4 22802 broad.mit.edu 37 1 87029432 87029432 + Frame_Shift_Del DEL A A - TCGA-IB-7647-01A-11D-2154-08 TCGA-IB-7647-10A-01D-2154-08 Untested Somatic Phase_I WXS none Illumina GAIIx d2579415-7e40-48ba-a59c-e5543b8097dc fae3bedd-75e3-4f2a-86fa-c7e2c4dd4880 g.chr1:87029432delA ENST00000370563.3 + 4 579 c.537delA c.(535-537)tcfs p.S179fs CLCA4_ENST00000263723.5_5'UTR NM_012128.3 NP_036260.2 Q14CN2 CLCA4_HUMAN chloride channel accessory 4 179 apical plasma membrane|extracellular region|integral to plasma membrane chloride channel activity breast(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(7)|liver(2)|lung(21)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1) 44 Lung NSC(277;0.238) all cancers(265;0.0202)|Epithelial(280;0.0404) GTGCTAAGTCAAAAAAAATCG 0.403 7 334 --- --- --- --- SLC44A3 126969 broad.mit.edu 37 1 95357932 95357932 + Frame_Shift_Del DEL T T - TCGA-IB-7647-01A-11D-2154-08 TCGA-IB-7647-10A-01D-2154-08 Untested Somatic Phase_I WXS none Illumina GAIIx d2579415-7e40-48ba-a59c-e5543b8097dc fae3bedd-75e3-4f2a-86fa-c7e2c4dd4880 g.chr1:95357932delT ENST00000271227.6 + 14 1818 c.1716delT c.(1714-1716)gcfs p.A572fs SLC44A3_ENST00000467909.1_Frame_Shift_Del_p.A524fs|SLC44A3_ENST00000446120.2_Frame_Shift_Del_p.A536fs|SLC44A3_ENST00000532427.1_Frame_Shift_Del_p.A492fs|SLC44A3_ENST00000529450.1_Frame_Shift_Del_p.A539fs|SLC44A3_ENST00000527077.1_Frame_Shift_Del_p.A504fs NM_001114106.2|NM_001258340.1|NM_001258341.1 NP_001107578.1|NP_001245269.1|NP_001245270.1 Q8N4M1 CTL3_HUMAN solute carrier family 44, member 3 572 integral to membrane|plasma membrane choline transmembrane transporter activity p.F526fs*4(1)|p.A575fs*7(1)|p.A527fs*7(1)|p.F574fs*4(1) breast(1)|endometrium(2)|kidney(4)|large_intestine(6)|lung(6)|prostate(2)|stomach(1)|urinary_tract(1) 23 all_lung(203;0.000712)|Lung NSC(277;0.00316) all cancers(265;0.039)|Epithelial(280;0.124) Choline(DB00122) TATTGGTAGCTTTTTTTGCCT 0.423 7 985 --- --- --- --- FNDC7 163479 broad.mit.edu 37 1 109276138 109276138 + Frame_Shift_Del DEL A A - TCGA-IB-7647-01A-11D-2154-08 TCGA-IB-7647-10A-01D-2154-08 Untested Somatic Phase_I WXS none Illumina GAIIx d2579415-7e40-48ba-a59c-e5543b8097dc fae3bedd-75e3-4f2a-86fa-c7e2c4dd4880 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 7 423 --- --- --- --- NGF 4803 broad.mit.edu 37 1 115828721 115828722 + Frame_Shift_Del DEL CA CA - TCGA-IB-7647-01A-11D-2154-08 TCGA-IB-7647-10A-01D-2154-08 Untested Somatic Phase_I WXS none Illumina GAIIx d2579415-7e40-48ba-a59c-e5543b8097dc fae3bedd-75e3-4f2a-86fa-c7e2c4dd4880 g.chr1:115828721_115828722delCA ENST00000369512.2 - 3 863_864 c.695_696delTG c.(694-696)gfs p.V232fs RP4-663N10.1_ENST00000425449.1_RNA NM_002506.2 NP_002497.2 P01138 NGF_HUMAN nerve growth factor (beta polypeptide) 232 activation of MAPKK activity|activation of phospholipase C activity|anti-apoptosis|apoptosis|induction of apoptosis by extracellular signals|negative regulation of cell cycle|nerve growth factor processing|nerve growth factor receptor signaling pathway|phosphatidylinositol-mediated signaling|Ras protein signal transduction endosome|Golgi lumen growth factor activity|nerve growth factor receptor binding breast(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(2)|lung(2)|ovary(1)|skin(2)|upper_aerodigestive_tract(2) 13 Lung SC(450;0.211) all_cancers(81;1.07e-06)|all_epithelial(167;4.43e-06)|all_lung(203;2.86e-05)|Lung NSC(69;4.99e-05) Lung(183;0.0234)|Colorectal(144;0.0686)|COAD - Colon adenocarcinoma(174;0.111)|LUSC - Lung squamous cell carcinoma(189;0.133)|all cancers(265;0.159)|Epithelial(280;0.179) Clenbuterol(DB01407) TCCTGCTGAGCACACACACACA 0.579 7 432 --- --- --- --- RP11-435B5.5 0 broad.mit.edu 37 1 143391923 143391924 + RNA DEL AT AT - TCGA-IB-7647-01A-11D-2154-08 TCGA-IB-7647-10A-01D-2154-08 Untested Somatic Phase_I WXS none Illumina GAIIx d2579415-7e40-48ba-a59c-e5543b8097dc fae3bedd-75e3-4f2a-86fa-c7e2c4dd4880 g.chr1:143391923_143391924delAT ENST00000428624.1 + 0 2065 RP11-435B5.4_ENST00000423249.1_lincRNA TATTTTGGAGATATATATATAT 0.262 7 146 --- --- --- --- POLR3GL 84265 broad.mit.edu 37 1 145457040 145457042 + In_Frame_Del DEL TCT TCT - TCGA-IB-7647-01A-11D-2154-08 TCGA-IB-7647-10A-01D-2154-08 Untested Somatic Phase_I WXS none Illumina GAIIx d2579415-7e40-48ba-a59c-e5543b8097dc fae3bedd-75e3-4f2a-86fa-c7e2c4dd4880 g.chr1:145457040_145457042delTCT ENST00000369314.1 - 7 625_627 c.519_521delAGA c.(517-522)gag>ga p.EE173del POLR3GL_ENST00000369313.3_In_Frame_Del_p.EE150del NM_032305.1 NP_115681.1 Q9BT43 RPC7L_HUMAN polymerase (RNA) III (DNA directed) polypeptide G (32kD)-like 173 Glu-rich. endometrium(2)|large_intestine(1)|lung(1) 4 all_hematologic(18;0.0187)|Acute lymphoblastic leukemia(18;0.0786) ctcttccttctcttcttcttctt 0.448 7 167 --- --- --- --- S100A8 6279 broad.mit.edu 37 1 153362715 153362715 + Frame_Shift_Del DEL T T - TCGA-IB-7647-01A-11D-2154-08 TCGA-IB-7647-10A-01D-2154-08 Untested Somatic Phase_I WXS none Illumina GAIIx d2579415-7e40-48ba-a59c-e5543b8097dc fae3bedd-75e3-4f2a-86fa-c7e2c4dd4880 g.chr1:153362715delT ENST00000368733.3 - 3 315 c.146delA c.(145-147)agfs p.K49fs S100A8_ENST00000368732.1_Frame_Shift_Del_p.K49fs|S100A8_ENST00000477801.1_5'UTR NM_002964.4 NP_002955.2 P05109 S10A8_HUMAN S100 calcium binding protein A8 49 EF-hand 2. chemotaxis cytoplasm|cytoskeleton|plasma membrane calcium ion binding|protein binding breast(1)|endometrium(1)|lung(1)|urinary_tract(1) 4 all_lung(78;2.81e-33)|Lung NSC(65;9.54e-32)|Hepatocellular(266;0.0877)|all_hematologic(923;0.127) LUSC - Lung squamous cell carcinoma(543;0.171) GTCTGCACCCTTTTTCTGTCA 0.507 7 1076 --- --- --- --- HAX1 10456 broad.mit.edu 37 1 154245864 154245866 + In_Frame_Del DEL GAA GAA - rs11556342 TCGA-IB-7647-01A-11D-2154-08 TCGA-IB-7647-10A-01D-2154-08 Untested Somatic Phase_I WXS none Illumina GAIIx d2579415-7e40-48ba-a59c-e5543b8097dc fae3bedd-75e3-4f2a-86fa-c7e2c4dd4880 g.chr1:154245864_154245866delGAA ENST00000328703.7 + 2 319_321 c.106_108delGAA c.(106-108)del p.E40del HAX1_ENST00000532105.1_Intron|HAX1_ENST00000483970.2_In_Frame_Del_p.E40del|HAX1_ENST00000457918.2_Intron NM_006118.3 NP_006109.2 O00165 HAX1_HUMAN HCLS1 associated protein X-1 40 Asp/Glu-rich (highly acidic).|Required for localization in mitochondria (By similarity). actin cytoskeleton|cytoplasmic membrane-bounded vesicle|lamellipodium|mitochondrion|nuclear membrane|sarcoplasmic reticulum|soluble fraction interleukin-1 binding|protein N-terminus binding cervix(1)|endometrium(2)|large_intestine(2)|lung(8)|prostate(1)|upper_aerodigestive_tract(1) 15 all_lung(78;2.62e-30)|Lung NSC(65;3.94e-28)|Hepatocellular(266;0.0877) LUSC - Lung squamous cell carcinoma(543;0.185) TGATGATGAGGAAGAAGAAGAAG 0.522 Kostmann syndrome 11 381 --- --- --- --- ASH1L 55870 broad.mit.edu 37 1 155448996 155448996 + Frame_Shift_Del DEL T T - TCGA-IB-7647-01A-11D-2154-08 TCGA-IB-7647-10A-01D-2154-08 Untested Somatic Phase_I WXS none Illumina GAIIx d2579415-7e40-48ba-a59c-e5543b8097dc fae3bedd-75e3-4f2a-86fa-c7e2c4dd4880 g.chr1:155448996delT ENST00000368346.3 - 3 4304 c.3665delA c.(3664-3666)agfs p.K1222fs ASH1L_ENST00000392403.3_Frame_Shift_Del_p.K1222fs Q9NR48 ASH1L_HUMAN ash1 (absent, small, or homeotic)-like (Drosophila) 1222 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) ATGCCTCCTCTTTTTTTGCCC 0.413 8 1060 --- --- --- --- NOS1AP 9722 broad.mit.edu 37 1 162326888 162326890 + In_Frame_Del DEL CAG CAG - TCGA-IB-7647-01A-11D-2154-08 TCGA-IB-7647-10A-01D-2154-08 Untested Somatic Phase_I WXS none Illumina GAIIx d2579415-7e40-48ba-a59c-e5543b8097dc fae3bedd-75e3-4f2a-86fa-c7e2c4dd4880 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 9 431 --- --- --- --- LMX1A 4009 broad.mit.edu 37 1 165177332 165177334 + In_Frame_Del DEL TGC TGC - TCGA-IB-7647-01A-11D-2154-08 TCGA-IB-7647-10A-01D-2154-08 Untested Somatic Phase_I WXS none Illumina GAIIx d2579415-7e40-48ba-a59c-e5543b8097dc fae3bedd-75e3-4f2a-86fa-c7e2c4dd4880 g.chr1:165177332_165177334delTGC ENST00000342310.3 - 7 1165_1167 c.783_785delGCA c.(781-786)caa>ca p.QQ261del LMX1A_ENST00000294816.2_In_Frame_Del_p.QQ261del|LMX1A_ENST00000489443.2_5'UTR|LMX1A_ENST00000367893.4_In_Frame_Del_p.QQ261del NM_177398.3 NP_796372.1 Q8TE12 LMX1A_HUMAN LIM homeobox transcription factor 1, alpha 261 Gln-rich.|Poly-Gln. nucleus sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding NS(2)|biliary_tract(1)|central_nervous_system(3)|cervix(2)|endometrium(4)|large_intestine(6)|lung(10)|pancreas(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(4) 35 all_hematologic(923;0.248) CTGCTGATCTTGCTGCTGCTGCT 0.567 8 168 --- --- --- --- POU2F1 5451 broad.mit.edu 37 1 167385016 167385018 + In_Frame_Del DEL CCA CCA - TCGA-IB-7647-01A-11D-2154-08 TCGA-IB-7647-10A-01D-2154-08 Untested Somatic Phase_I WXS none Illumina GAIIx d2579415-7e40-48ba-a59c-e5543b8097dc fae3bedd-75e3-4f2a-86fa-c7e2c4dd4880 g.chr1:167385016_167385018delCCA ENST00000367862.5 + 16 2472_2474 c.2237_2239delCCA c.(2236-2241)tcc>t p.ST746del POU2F1_ENST00000420254.3_Intron|POU2F1_ENST00000541643.3_In_Frame_Del_p.ST734del|POU2F1_ENST00000429375.2_In_Frame_Del_p.ST694del|POU2F1_ENST00000367866.2_In_Frame_Del_p.ST757del|POU2F1_ENST00000367865.1_3'UTR 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 1114 --- --- --- --- SMC6 79677 broad.mit.edu 37 2 17898126 17898126 + Frame_Shift_Del DEL T T - TCGA-IB-7647-01A-11D-2154-08 TCGA-IB-7647-10A-01D-2154-08 Untested Somatic Phase_I WXS none Illumina GAIIx d2579415-7e40-48ba-a59c-e5543b8097dc fae3bedd-75e3-4f2a-86fa-c7e2c4dd4880 g.chr2:17898126delT ENST00000448223.2 - 14 1497 c.1228delA c.(1228-1230)tafs p.I410fs SMC6_ENST00000351948.4_Frame_Shift_Del_p.I410fs|SMC6_ENST00000381272.4_Frame_Shift_Del_p.I436fs|SMC6_ENST00000402989.1_Frame_Shift_Del_p.I410fs NM_001142286.1 NP_001135758.1 Q96SB8 SMC6_HUMAN structural maintenance of chromosomes 6 410 DNA recombination|DNA repair chromosome|nucleus ATP binding NS(1)|biliary_tract(1)|breast(6)|central_nervous_system(4)|cervix(1)|endometrium(4)|kidney(6)|large_intestine(3)|lung(13)|prostate(1)|skin(1)|upper_aerodigestive_tract(2) 43 Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.158) AACCAAGATATTTTTTTTTGT 0.343 8 310 --- --- --- --- ASXL2 55252 broad.mit.edu 37 2 26022304 26022306 + In_Frame_Del DEL CTG CTG - TCGA-IB-7647-01A-11D-2154-08 TCGA-IB-7647-10A-01D-2154-08 Untested Somatic Phase_I WXS none Illumina GAIIx d2579415-7e40-48ba-a59c-e5543b8097dc fae3bedd-75e3-4f2a-86fa-c7e2c4dd4880 g.chr2:26022304_26022306delCTG ENST00000435504.4 - 5 644_646 c.351_353delCAG c.(349-354)agt>ag p.SS117del ASXL2_ENST00000336112.4_In_Frame_Del_p.SS89del|ASXL2_ENST00000497092.1_5'UTR|ASXL2_ENST00000272341.4_5'UTR Q76L83 ASXL2_HUMAN additional sex combs like 2 (Drosophila) 117 Ser-rich. regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus metal ion binding|protein binding NS(1)|breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(4)|lung(7)|pancreas(1)|prostate(4)|skin(3)|urinary_tract(3) 33 Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215) GCCACCATCACTGCTGCTGCTGC 0.463 7 865 --- --- --- --- GPR113 165082 broad.mit.edu 37 2 26534413 26534413 + Frame_Shift_Del DEL C C - TCGA-IB-7647-01A-11D-2154-08 TCGA-IB-7647-10A-01D-2154-08 Untested Somatic Phase_I WXS none Illumina GAIIx d2579415-7e40-48ba-a59c-e5543b8097dc fae3bedd-75e3-4f2a-86fa-c7e2c4dd4880 g.chr2:26534413delC ENST00000333478.6 - 8 2168 c.1586delG c.(1585-1587)gtfs p.G529fs GPR113_ENST00000459892.1_5'UTR|GPR113_ENST00000541401.1_Frame_Shift_Del_p.G331fs|GPR113_ENST00000311519.1_Frame_Shift_Del_p.G728fs|GPR113_ENST00000421160.2_Frame_Shift_Del_p.G659fs NM_153835.3 NP_722577.2 Q8IZF5 GP113_HUMAN G protein-coupled receptor 113 728 neuropeptide signaling pathway integral to membrane|plasma membrane G-protein coupled receptor activity p.G529fs*46(1) NS(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(5)|ovary(4)|prostate(2)|skin(1)|stomach(1)|urinary_tract(1) 24 Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215) TTTGGACCAACCCCCCCTGCC 0.612 7 397 --- --- --- --- BRE 9577 broad.mit.edu 37 2 28521301 28521301 + Frame_Shift_Del DEL A A - TCGA-IB-7647-01A-11D-2154-08 TCGA-IB-7647-10A-01D-2154-08 Untested Somatic Phase_I WXS none Illumina GAIIx d2579415-7e40-48ba-a59c-e5543b8097dc fae3bedd-75e3-4f2a-86fa-c7e2c4dd4880 g.chr2:28521301delA ENST00000344773.2 + 11 1169 c.1031delA c.(1030-1032)cafs p.Q344fs BRE_ENST00000342045.2_Frame_Shift_Del_p.Q344fs|BRE_ENST00000379624.1_Frame_Shift_Del_p.Q344fs|BRE_ENST00000379632.2_Frame_Shift_Del_p.Q344fs|BRE_ENST00000361704.2_Frame_Shift_Del_p.Q344fs NM_004899.4 NP_004890.2 Q9NXR7 BRE_HUMAN brain and reproductive organ-expressed (TNFRSF1A modulator) 344 UEV-like 2. 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 NS(1)|endometrium(3)|kidney(2)|large_intestine(2)|lung(11)|prostate(2)|skin(2) 23 Acute lymphoblastic leukemia(172;0.155) TCCCAGGCCCAAAAAAATTAT 0.448 7 1055 --- --- --- --- C2orf71 388939 broad.mit.edu 37 2 29295647 29295649 + In_Frame_Del DEL TCC TCC - TCGA-IB-7647-01A-11D-2154-08 TCGA-IB-7647-10A-01D-2154-08 Untested Somatic Phase_I WXS none Illumina GAIIx d2579415-7e40-48ba-a59c-e5543b8097dc fae3bedd-75e3-4f2a-86fa-c7e2c4dd4880 g.chr2:29295647_29295649delTCC ENST00000331664.5 - 1 1478_1480 c.1479_1481delGGA c.(1477-1482)gaa>ga p.EE493del NM_001029883.2 NP_001025054.1 A6NGG8 CB071_HUMAN chromosome 2 open reading frame 71 493 response to stimulus|visual perception photoreceptor outer segment NS(2)|breast(5)|central_nervous_system(3)|endometrium(4)|kidney(3)|large_intestine(11)|lung(20)|ovary(2)|prostate(6)|skin(3)|stomach(1) 60 CATTTTGTCTTCCTCCTCCTCCT 0.542 8 789 --- --- --- --- DHX57 90957 broad.mit.edu 37 2 39095411 39095413 + In_Frame_Del DEL CCA CCA - TCGA-IB-7647-01A-11D-2154-08 TCGA-IB-7647-10A-01D-2154-08 Untested Somatic Phase_I WXS none Illumina GAIIx d2579415-7e40-48ba-a59c-e5543b8097dc fae3bedd-75e3-4f2a-86fa-c7e2c4dd4880 g.chr2:39095411_39095413delCCA ENST00000295373.6 - 2 261_263 c.135_137delTGG c.(133-138)gga>gg p.GG47del NM_198963.1 NP_945314.1 Q6P158 DHX57_HUMAN DEAH (Asp-Glu-Ala-Asp/His) box polypeptide 57 47 Gly-rich. ATP binding|ATP-dependent helicase activity|nucleic acid binding|protein binding|zinc ion binding NS(2)|breast(3)|central_nervous_system(1)|endometrium(9)|kidney(2)|large_intestine(15)|lung(20)|ovary(1)|prostate(3)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1) 62 all_hematologic(82;0.248) Gccgccacctccaccaccaccac 0.532 7 552 --- --- --- --- SOS1 6654 broad.mit.edu 37 2 39213243 39213243 + Frame_Shift_Del DEL T T - TCGA-IB-7647-01A-11D-2154-08 TCGA-IB-7647-10A-01D-2154-08 Untested Somatic Phase_I WXS none Illumina GAIIx d2579415-7e40-48ba-a59c-e5543b8097dc fae3bedd-75e3-4f2a-86fa-c7e2c4dd4880 g.chr2:39213243delT ENST00000426016.1 - 24 3810 c.3724delA c.(3724-3726)gtfs p.S1242fs SOS1_ENST00000402219.2_Frame_Shift_Del_p.S1242fs|SOS1_ENST00000395038.2_Frame_Shift_Del_p.S1227fs Q07889 SOS1_HUMAN son of sevenless homolog 1 (Drosophila) 1242 apoptosis|axon guidance|blood coagulation|epidermal growth factor receptor signaling pathway|fibroblast growth factor receptor signaling pathway|induction of apoptosis by extracellular signals|insulin receptor signaling pathway|leukocyte migration|nerve growth factor receptor signaling pathway|Ras protein signal transduction cytosol DNA binding|protein binding|Rho GTPase activator activity|Rho guanyl-nucleotide exchange factor activity autonomic_ganglia(1)|breast(6)|central_nervous_system(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(9)|liver(1)|lung(29)|ovary(4)|prostate(1)|skin(4)|stomach(1)|urinary_tract(2) 75 all_hematologic(82;0.21) CCATGGTCACTTTTTTTGCCC 0.517 Noonan syndrome 7 604 --- --- --- --- AFTPH 54812 broad.mit.edu 37 2 64778672 64778674 + In_Frame_Del DEL GAT GAT - TCGA-IB-7647-01A-11D-2154-08 TCGA-IB-7647-10A-01D-2154-08 Untested Somatic Phase_I WXS none Illumina GAIIx d2579415-7e40-48ba-a59c-e5543b8097dc fae3bedd-75e3-4f2a-86fa-c7e2c4dd4880 g.chr2:64778672_64778674delGAT ENST00000422803.1 + 2 378_380 c.64_66delGAT c.(64-66)del p.D26del AFTPH_ENST00000238856.4_In_Frame_Del_p.D26del|AFTPH_ENST00000409933.1_In_Frame_Del_p.D26del|AFTPH_ENST00000238855.7_In_Frame_Del_p.D26del Q6ULP2 AFTIN_HUMAN aftiphilin 26 protein transport AP-1 adaptor complex|cytosol|nucleus clathrin binding breast(3)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(11)|ovary(2)|prostate(1)|skin(3)|urinary_tract(1) 35 TGGAGCAGAGGATGATGATGATG 0.409 7 1035 --- --- --- --- SMYD5 10322 broad.mit.edu 37 2 73453009 73453011 + In_Frame_Del DEL GAG GAG - TCGA-IB-7647-01A-11D-2154-08 TCGA-IB-7647-10A-01D-2154-08 Untested Somatic Phase_I WXS none Illumina GAIIx d2579415-7e40-48ba-a59c-e5543b8097dc fae3bedd-75e3-4f2a-86fa-c7e2c4dd4880 g.chr2:73453009_73453011delGAG ENST00000389501.4 + 13 1237_1239 c.1192_1194delGAG c.(1192-1194)del p.E403del NM_006062.2 NP_006053.2 Q6GMV2 SMYD5_HUMAN SMYD family member 5 403 Glu-rich. metal ion binding NS(1)|breast(1)|endometrium(1)|large_intestine(3)|lung(5)|pancreas(1)|upper_aerodigestive_tract(1) 13 ggaagaggaagaggaggaggagg 0.562 7 570 --- --- --- --- NCKAP5 344148 broad.mit.edu 37 2 133541083 133541084 + Frame_Shift_Ins INS - - G TCGA-IB-7647-01A-11D-2154-08 TCGA-IB-7647-10A-01D-2154-08 Untested Somatic Phase_I WXS none Illumina GAIIx d2579415-7e40-48ba-a59c-e5543b8097dc fae3bedd-75e3-4f2a-86fa-c7e2c4dd4880 g.chr2:133541083_133541084insG ENST00000409261.1 - 14 3673_3674 c.3300_3301insC c.(3298-3303)ccagccfs p.A1101fs NCKAP5_ENST00000409213.1_Intron|NCKAP5_ENST00000405974.3_Intron|NCKAP5_ENST00000317721.6_Frame_Shift_Ins_p.A1101fs NM_207363.2 NP_997246.2 O14513 NCKP5_HUMAN NCK-associated protein 5 1101 Ser-rich. protein binding NS(4)|autonomic_ganglia(1)|breast(5)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(29)|lung(51)|prostate(5)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 118 AAGGAAGGCTTGGGGGGTGTGG 0.505 7 1771 --- --- --- --- SSB 6741 broad.mit.edu 37 2 170665008 170665008 + Frame_Shift_Del DEL A A - TCGA-IB-7647-01A-11D-2154-08 TCGA-IB-7647-10A-01D-2154-08 Untested Somatic Phase_I WXS none Illumina GAIIx d2579415-7e40-48ba-a59c-e5543b8097dc fae3bedd-75e3-4f2a-86fa-c7e2c4dd4880 g.chr2:170665008delA ENST00000409333.1 + 7 818 c.571delA c.(571-573)aafs p.K192fs SSB_ENST00000260956.4_Frame_Shift_Del_p.K192fs P05455 LA_HUMAN Sjogren syndrome antigen B (autoantigen La) 192 histone mRNA metabolic process|tRNA modification nucleus|ribonucleoprotein complex mRNA binding|nucleotide binding|protein binding|tRNA binding endometrium(3)|large_intestine(2)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1) 12 TTACTTTGCCAAAAAAAATGA 0.323 7 278 --- --- --- --- RAPH1 65059 broad.mit.edu 37 2 204322298 204322298 + Frame_Shift_Del DEL T T - rs2469953 byFrequency TCGA-IB-7647-01A-11D-2154-08 TCGA-IB-7647-10A-01D-2154-08 Untested Somatic Phase_I WXS none Illumina GAIIx d2579415-7e40-48ba-a59c-e5543b8097dc fae3bedd-75e3-4f2a-86fa-c7e2c4dd4880 g.chr2:204322298delT ENST00000319170.5 - 8 1412 c.1113delA c.(1111-1113)aafs p.K371fs RAPH1_ENST00000374488.2_Frame_Shift_Del_p.K396fs|RAPH1_ENST00000374493.3_Frame_Shift_Del_p.K423fs|RAPH1_ENST00000308091.4_Frame_Shift_Del_p.K423fs|RAPH1_ENST00000457812.1_Frame_Shift_Del_p.K371fs|RAPH1_ENST00000453034.1_Frame_Shift_Del_p.K423fs|RAPH1_ENST00000423104.1_Frame_Shift_Del_p.K398fs|RAPH1_ENST00000374489.2_Frame_Shift_Del_p.K398fs|RAPH1_ENST00000419464.1_Frame_Shift_Del_p.K371fs|RAPH1_ENST00000418114.1_Frame_Shift_Del_p.K371fs|RAPH1_ENST00000439222.1_Frame_Shift_Del_p.K396fs NM_213589.1 NP_998754.1 Q70E73 RAPH1_HUMAN Ras association (RalGDS/AF-6) and pleckstrin homology domains 1 371 cell-matrix adhesion|signal transduction cytoplasm|cytoskeleton|filopodium|lamellipodium|nucleus|plasma membrane breast(5)|central_nervous_system(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(7)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 32 CAGCTGTTTCTTTTTTCCCCA 0.373 7 919 --- --- --- --- SLC11A1 6556 broad.mit.edu 37 2 219252307 219252307 + Frame_Shift_Del DEL T T - TCGA-IB-7647-01A-11D-2154-08 TCGA-IB-7647-10A-01D-2154-08 Untested Somatic Phase_I WXS none Illumina GAIIx d2579415-7e40-48ba-a59c-e5543b8097dc fae3bedd-75e3-4f2a-86fa-c7e2c4dd4880 g.chr2:219252307delT ENST00000233202.6 + 7 931 c.591delT c.(589-591)gcfs p.A197fs SLC11A1_ENST00000539932.1_Frame_Shift_Del_p.A79fs NM_000578.3 NP_000569.3 P49279 NRAM1_HUMAN solute carrier family 11 (proton-coupled divalent metal ion transporter), member 1 197 activation of protein kinase activity|antigen processing and presentation of peptide antigen|cadmium ion transmembrane transport|cellular cadmium ion homeostasis|cellular iron ion homeostasis|defense response to Gram-negative bacterium|defense response to protozoan|divalent metal ion export|inflammatory response|interleukin-2 production|interleukin-3 production|iron ion transport|L-arginine import|macrophage activation|MHC class II biosynthetic process|mRNA stabilization|multicellular organismal iron ion homeostasis|negative regulation of cytokine production|nitrite transport|phagocytosis|positive regulation of dendritic cell antigen processing and presentation|positive regulation of interferon-gamma production|positive regulation of phagocytosis|positive regulation of T-helper 1 type immune response|positive regulation of transcription from RNA polymerase II promoter|respiratory burst|response to interferon-gamma|response to lipopolysaccharide|T cell cytokine production|T cell proliferation involved in immune response|vacuolar acidification|wound healing integral to plasma membrane|late endosome membrane|lysosome|phagocytic vesicle membrane|tertiary granule membrane manganese ion transmembrane transporter activity|metal ion:hydrogen antiporter activity|protein homodimerization activity NS(1)|breast(2)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(3)|ovary(3)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1) 19 Renal(207;0.0474) Epithelial(149;1.16e-06)|all cancers(144;0.000195)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942) AGCTGGAAGCTTTTTTTGGAC 0.448 8 2616 --- --- --- --- PCOLCE2 26577 broad.mit.edu 37 3 142548586 142548586 + Frame_Shift_Del DEL T T - TCGA-IB-7647-01A-11D-2154-08 TCGA-IB-7647-10A-01D-2154-08 Untested Somatic Phase_I WXS none Illumina GAIIx d2579415-7e40-48ba-a59c-e5543b8097dc fae3bedd-75e3-4f2a-86fa-c7e2c4dd4880 g.chr3:142548586delT ENST00000295992.3 - 6 1119 c.813delA c.(811-813)aafs p.K271fs PCOLCE2_ENST00000485766.1_Intron NM_013363.3 NP_037495.1 Q9UKZ9 PCOC2_HUMAN procollagen C-endopeptidase enhancer 2 271 extracellular region collagen binding|heparin binding|peptidase activator activity NS(1)|endometrium(1)|large_intestine(11)|lung(15)|ovary(2)|skin(1)|upper_aerodigestive_tract(1) 32 TTGTAGGCAGTTTTTTTGGCC 0.383 9 980 --- --- --- --- DHX36 170506 broad.mit.edu 37 3 154042078 154042080 + In_Frame_Del DEL CCG CCG - TCGA-IB-7647-01A-11D-2154-08 TCGA-IB-7647-10A-01D-2154-08 Untested Somatic Phase_I WXS none Illumina GAIIx d2579415-7e40-48ba-a59c-e5543b8097dc fae3bedd-75e3-4f2a-86fa-c7e2c4dd4880 g.chr3:154042078_154042080delCCG ENST00000496811.1 - 1 206_208 c.126_128delCGG c.(124-129)gga>gg p.GG44del DHX36_ENST00000544526.1_In_Frame_Del_p.GG44del|DHX36_ENST00000308361.6_In_Frame_Del_p.GG44del|DHX36_ENST00000329463.5_In_Frame_Del_p.GG44del NM_020865.2 NP_065916.2 Q9H2U1 DHX36_HUMAN DEAH (Asp-Glu-Ala-His) box polypeptide 36 44 Gly-rich. cytoplasm|nucleus ATP binding|ATP-dependent helicase activity|nucleic acid binding|protein binding endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(7)|lung(11)|prostate(2)|skin(1)|urinary_tract(1) 35 LUSC - Lung squamous cell carcinoma(72;0.114)|Lung(72;0.173) ACCACCCCCTCCGCCGCCGCCGC 0.700 9 533 --- --- --- --- GOLIM4 27333 broad.mit.edu 37 3 167747642 167747644 + In_Frame_Del DEL CTG CTG - rs61743912 byFrequency TCGA-IB-7647-01A-11D-2154-08 TCGA-IB-7647-10A-01D-2154-08 Untested Somatic Phase_I WXS none Illumina GAIIx d2579415-7e40-48ba-a59c-e5543b8097dc fae3bedd-75e3-4f2a-86fa-c7e2c4dd4880 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 7 322 --- --- --- --- TMEM41A 90407 broad.mit.edu 37 3 185212517 185212518 + Frame_Shift_Ins INS - - A rs150885877 byFrequency TCGA-IB-7647-01A-11D-2154-08 TCGA-IB-7647-10A-01D-2154-08 Untested Somatic Phase_I WXS none Illumina GAIIx d2579415-7e40-48ba-a59c-e5543b8097dc fae3bedd-75e3-4f2a-86fa-c7e2c4dd4880 g.chr3:185212517_185212518insA ENST00000421852.1 - 4 562_563 c.467_468insT c.(466-468)tttfs p.F156fs TMEM41A_ENST00000296254.3_Intron|TMEM41A_ENST00000475480.1_5'UTR NM_080652.3 NP_542383.1 Q96HV5 TM41A_HUMAN transmembrane protein 41A 156 integral to membrane large_intestine(1)|lung(2)|skin(1) 4 all_cancers(143;7.78e-11)|Ovarian(172;0.0339) OV - Ovarian serous cystadenocarcinoma(80;1.93e-20) AAAACAATAAGAAAAAAAACAA 0.446 7 946 --- --- --- --- RNF168 165918 broad.mit.edu 37 3 196214338 196214338 + Frame_Shift_Del DEL T T - TCGA-IB-7647-01A-11D-2154-08 TCGA-IB-7647-10A-01D-2154-08 Untested Somatic Phase_I WXS none Illumina GAIIx d2579415-7e40-48ba-a59c-e5543b8097dc fae3bedd-75e3-4f2a-86fa-c7e2c4dd4880 g.chr3:196214338delT ENST00000318037.3 - 3 1084 c.490delA c.(490-492)ggfs p.R166fs NM_152617.3 NP_689830.2 Q8IYW5 RN168_HUMAN ring finger protein 168, E3 ubiquitin protein ligase 166 Glu-rich. double-strand break repair|histone H2A K63-linked ubiquitination|positive regulation of DNA repair|response to ionizing radiation nucleus|ubiquitin ligase complex chromatin binding|histone binding|ubiquitin binding|ubiquitin-protein ligase activity|zinc ion binding NS(1)|endometrium(2)|large_intestine(7)|lung(9)|ovary(1) 20 all_cancers(143;1e-08)|Ovarian(172;0.0634)|Breast(254;0.206) Epithelial(36;5.25e-24)|all cancers(36;5.47e-22)|OV - Ovarian serous cystadenocarcinoma(49;1.76e-18)|LUSC - Lung squamous cell carcinoma(58;1.51e-06)|Lung(62;1.95e-06) GBM - Glioblastoma multiforme(46;0.00348) GCTCTTCGCCTTTTTTCTGCC 0.448 8 2335 --- --- --- --- HGFAC 3083 broad.mit.edu 37 4 3443798 3443800 + In_Frame_Del DEL CTG CTG - TCGA-IB-7647-01A-11D-2154-08 TCGA-IB-7647-10A-01D-2154-08 Untested Somatic Phase_I WXS none Illumina GAIIx d2579415-7e40-48ba-a59c-e5543b8097dc fae3bedd-75e3-4f2a-86fa-c7e2c4dd4880 g.chr4:3443798_3443800delCTG ENST00000382774.3 + 1 185_187 c.70_72delCTG c.(70-72)del p.L29del HGFAC_ENST00000511533.1_In_Frame_Del_p.L29del NM_001528.2 NP_001519.1 Q04756 HGFA_HUMAN HGF activator 29 proteolysis extracellular space protein binding|serine-type endopeptidase activity central_nervous_system(3)|cervix(1)|endometrium(4)|large_intestine(2)|lung(8)|upper_aerodigestive_tract(2)|urinary_tract(2) 22 UCEC - Uterine corpus endometrioid carcinoma (64;0.163) CCTCCTCCTCCTGCTGCTGCTGC 0.714 10 138 --- --- --- --- YTHDC1 91746 broad.mit.edu 37 4 69202891 69202893 + In_Frame_Del DEL TCC TCC - rs141105019 TCGA-IB-7647-01A-11D-2154-08 TCGA-IB-7647-10A-01D-2154-08 Untested Somatic Phase_I WXS none Illumina GAIIx d2579415-7e40-48ba-a59c-e5543b8097dc fae3bedd-75e3-4f2a-86fa-c7e2c4dd4880 g.chr4:69202891_69202893delTCC ENST00000344157.4 - 4 1070_1072 c.735_737delGGA c.(733-738)gaa>ga p.EE247del YTHDC1_ENST00000579690.1_In_Frame_Del_p.EE247del|YTHDC1_ENST00000355665.3_In_Frame_Del_p.EE247del NM_001031732.2 NP_001026902.1 Q96MU7 YTDC1_HUMAN YTH domain containing 1 247 Glu-rich. p.E245E(1) NS(1)|breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(10)|lung(7)|ovary(1)|prostate(1)|upper_aerodigestive_tract(2) 30 ttcttcttcttcctcctcctcct 0.473 9 310 --- --- --- --- AFM 173 broad.mit.edu 37 4 74347532 74347532 + Frame_Shift_Del DEL T T - rs145217978 byFrequency TCGA-IB-7647-01A-11D-2154-08 TCGA-IB-7647-10A-01D-2154-08 Untested Somatic Phase_I WXS none Illumina GAIIx d2579415-7e40-48ba-a59c-e5543b8097dc fae3bedd-75e3-4f2a-86fa-c7e2c4dd4880 g.chr4:74347532delT ENST00000226355.3 + 1 133 c.40delT c.(40-42)ttfs p.F15fs NM_001133.2 NP_001124.1 P43652 AFAM_HUMAN afamin 15 vitamin transport vitamin E binding breast(2)|central_nervous_system(2)|endometrium(2)|kidney(1)|large_intestine(8)|lung(9)|ovary(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2) 32 Breast(15;0.00102) Epithelial(6;5.69e-05)|OV - Ovarian serous cystadenocarcinoma(6;0.000324)|all cancers(17;0.000555)|Lung(101;0.103)|LUSC - Lung squamous cell carcinoma(112;0.154) TTTTTTCTTGTTTTTTTTGAC 0.313 7 355 --- --- --- --- INTU 27152 broad.mit.edu 37 4 128564917 128564917 + Frame_Shift_Del DEL A A - TCGA-IB-7647-01A-11D-2154-08 TCGA-IB-7647-10A-01D-2154-08 Untested Somatic Phase_I WXS none Illumina GAIIx d2579415-7e40-48ba-a59c-e5543b8097dc fae3bedd-75e3-4f2a-86fa-c7e2c4dd4880 g.chr4:128564917delA ENST00000335251.5 + 2 491 c.388delA c.(388-390)aafs p.K131fs INTU_ENST00000296461.5_Frame_Shift_Del_p.K131fs NM_015693.3 NP_056508.2 Q9ULD6 PDZD6_HUMAN inturned planar cell polarity protein 131 breast(3)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(8)|liver(2)|lung(17)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(3) 43 GCGCTGCAATAAAAAAAATAG 0.358 9 529 --- --- --- --- MAML3 55534 broad.mit.edu 37 4 140811064 140811069 + In_Frame_Del DEL TGCTGC TGCTGC - rs71855026 TCGA-IB-7647-01A-11D-2154-08 TCGA-IB-7647-10A-01D-2154-08 Untested Somatic Phase_I WXS none Illumina GAIIx d2579415-7e40-48ba-a59c-e5543b8097dc fae3bedd-75e3-4f2a-86fa-c7e2c4dd4880 g.chr4:140811064_140811069delTGCTGC ENST00000509479.2 - 2 2377_2382 c.1521_1526delGCAGCA c.(1519-1527)caa>ca p.QQQ507del MAML3_ENST00000398940.1_Splice_Site_p.37_splice|MAML3_ENST00000327122.5_In_Frame_Del_p.QQQ351del NM_018717.4 NP_061187.2 Q96JK9 MAML3_HUMAN mastermind-like 3 (Drosophila) 506 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) TGAGtgctgttgctgctgctgctgct 0.515 44 503 --- --- --- --- CLGN 1047 broad.mit.edu 37 4 141313402 141313402 + Frame_Shift_Del DEL T T - TCGA-IB-7647-01A-11D-2154-08 TCGA-IB-7647-10A-01D-2154-08 Untested Somatic Phase_I WXS none Illumina GAIIx d2579415-7e40-48ba-a59c-e5543b8097dc fae3bedd-75e3-4f2a-86fa-c7e2c4dd4880 g.chr4:141313402delT ENST00000325617.5 - 13 2062 c.1622delA c.(1621-1623)agfs p.K541fs CLGN_ENST00000414773.1_Frame_Shift_Del_p.K541fs|CLGN_ENST00000537281.1_Frame_Shift_Del_p.K541fs NM_004362.2 NP_004353.1 O14967 CLGN_HUMAN calmegin 541 protein folding endoplasmic reticulum membrane|integral to membrane calcium ion binding|unfolded protein binding breast(2)|endometrium(3)|kidney(1)|large_intestine(2)|liver(2)|lung(5)|ovary(2)|prostate(3)|skin(4)|urinary_tract(1) 25 all_hematologic(180;0.162) ATCATTTTGCTTTTTTTCCTC 0.378 8 1578 --- --- --- --- CEP44 80817 broad.mit.edu 37 4 175224891 175224892 + Frame_Shift_Ins INS - - A TCGA-IB-7647-01A-11D-2154-08 TCGA-IB-7647-10A-01D-2154-08 Untested Somatic Phase_I WXS none Illumina GAIIx d2579415-7e40-48ba-a59c-e5543b8097dc fae3bedd-75e3-4f2a-86fa-c7e2c4dd4880 g.chr4:175224891_175224892insA ENST00000503780.1 + 5 689_690 c.275_276insA c.(274-276)aaafs p.K92fs CEP44_ENST00000426172.1_Frame_Shift_Ins_p.K92fs|CEP44_ENST00000457424.2_Frame_Shift_Ins_p.K92fs|CEP44_ENST00000296519.4_Frame_Shift_Ins_p.K92fs NM_001040157.2 NP_001035247.1 Q9C0F1 CEP44_HUMAN centrosomal protein 44kDa 92 centrosome|midbody|spindle pole endometrium(2)|large_intestine(4)|lung(5)|stomach(1) 12 CCAATTTTGACAAAAAAGCAGT 0.312 33 261 --- --- --- --- BRD9 65980 broad.mit.edu 37 5 889776 889777 + Frame_Shift_Ins INS - - A TCGA-IB-7647-01A-11D-2154-08 TCGA-IB-7647-10A-01D-2154-08 Untested Somatic Phase_I WXS none Illumina GAIIx d2579415-7e40-48ba-a59c-e5543b8097dc fae3bedd-75e3-4f2a-86fa-c7e2c4dd4880 g.chr5:889776_889777insA ENST00000323510.4 - 1 37_38 c.38_39insT c.(37-39)tctfs p.S13fs BRD9_ENST00000483173.1_Intron|BRD9_ENST00000467963.1_Intron|BRD9_ENST00000435709.2_Frame_Shift_Ins_p.S13fs|BRD9_ENST00000388890.4_Frame_Shift_Ins_p.S13fs Q9H8M2 BRD9_HUMAN bromodomain containing 9 0 nucleic acid binding breast(1)|endometrium(2)|kidney(2)|large_intestine(7)|lung(11)|ovary(2)|pancreas(1)|prostate(3) 29 Epithelial(17;0.00202)|OV - Ovarian serous cystadenocarcinoma(19;0.00353)|all cancers(22;0.00815)|Lung(60;0.185) ACAATTTAAGGAAAAAAAAATT 0.446 7 437 --- --- --- --- DIMT1 27292 broad.mit.edu 37 5 61688028 61688029 + Frame_Shift_Ins INS - - T TCGA-IB-7647-01A-11D-2154-08 TCGA-IB-7647-10A-01D-2154-08 Untested Somatic Phase_I WXS none Illumina GAIIx d2579415-7e40-48ba-a59c-e5543b8097dc fae3bedd-75e3-4f2a-86fa-c7e2c4dd4880 g.chr5:61688028_61688029insT ENST00000199320.4 - 10 921_922 c.761_762insA c.(760-762)atafs p.I254fs KIF2A_ENST00000509663.2_Intron|DIMT1_ENST00000506390.1_Frame_Shift_Ins_p.I254fs NM_014473.2 NP_055288.1 Q9UNQ2 DIMT1_HUMAN DIM1 dimethyladenosine transferase 1 homolog (S. cerevisiae) 254 nucleolus RNA binding|rRNA (adenine-N6,N6-)-dimethyltransferase activity GAATTCTGTAGTTTTTTTCCAA 0.297 7 616 --- --- --- --- THBS4 7060 broad.mit.edu 37 5 79372774 79372776 + In_Frame_Del DEL TGA TGA - TCGA-IB-7647-01A-11D-2154-08 TCGA-IB-7647-10A-01D-2154-08 Untested Somatic Phase_I WXS none Illumina GAIIx d2579415-7e40-48ba-a59c-e5543b8097dc fae3bedd-75e3-4f2a-86fa-c7e2c4dd4880 g.chr5:79372774_79372776delTGA ENST00000350881.2 + 16 2179_2181 c.1989_1991delTGA c.(1987-1992)tgt>tg p.CD663del CTD-2201I18.1_ENST00000503007.1_RNA|CTD-2201I18.1_ENST00000514042.1_RNA|THBS4_ENST00000511733.1_In_Frame_Del_p.CD572del NM_003248.4 NP_003239.2 P35443 TSP4_HUMAN thrombospondin 4 663 endothelial cell-cell adhesion|myoblast migration|negative regulation of angiogenesis|positive regulation of endothelial cell proliferation|positive regulation of neutrophil chemotaxis|positive regulation of peptidyl-tyrosine phosphorylation basement membrane|extracellular space calcium ion binding|heparin binding|integrin binding|structural molecule activity breast(1)|endometrium(4)|kidney(2)|large_intestine(9)|lung(14)|ovary(1)|stomach(3) 34 Lung NSC(167;0.00328)|all_lung(232;0.00355)|Ovarian(174;0.0261) OV - Ovarian serous cystadenocarcinoma(54;6.3e-45)|Epithelial(54;1.77e-39)|all cancers(79;3.2e-34) GTGACGAGTGTGATGATGATGAT 0.562 8 1334 --- --- --- --- RAPGEF6 51735 broad.mit.edu 37 5 130815369 130815369 + Frame_Shift_Del DEL T T - TCGA-IB-7647-01A-11D-2154-08 TCGA-IB-7647-10A-01D-2154-08 Untested Somatic Phase_I WXS none Illumina GAIIx d2579415-7e40-48ba-a59c-e5543b8097dc fae3bedd-75e3-4f2a-86fa-c7e2c4dd4880 g.chr5:130815369delT ENST00000509018.1 - 16 2123 c.1918delA c.(1918-1920)gtfs p.S640fs RAPGEF6_ENST00000510071.1_Frame_Shift_Del_p.S640fs|RAPGEF6_ENST00000307984.5_Frame_Shift_Del_p.S640fs|RAPGEF6_ENST00000512052.1_Frame_Shift_Del_p.S355fs|RAPGEF6_ENST00000507093.1_Frame_Shift_Del_p.S640fs|RAPGEF6_ENST00000296859.6_Frame_Shift_Del_p.S640fs|RAPGEF6_ENST00000308008.6_Frame_Shift_Del_p.S640fs|FNIP1_ENST00000514667.1_Frame_Shift_Del_p.S690fs NM_001164386.1|NM_016340.5 NP_001157858.1|NP_057424.3 Q8TEU7 RPGF6_HUMAN Rap guanine nucleotide exchange factor (GEF) 6 640 Ras protein signal transduction|regulation of GTPase activity|regulation of small GTPase mediated signal transduction cytoplasm|plasma membrane GTP-dependent protein binding|guanyl-nucleotide exchange factor activity|Ras GTPase binding breast(2)|central_nervous_system(1)|endometrium(2)|kidney(4)|large_intestine(7)|lung(10)|ovary(3)|skin(1)|stomach(1) 31 KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365) Lung(113;0.0721) TGGCGATTACTTTTTTTTTCA 0.368 7 726 --- --- --- --- IK 3550 broad.mit.edu 37 5 140032593 140032594 + Frame_Shift_Del DEL GA GA - TCGA-IB-7647-01A-11D-2154-08 TCGA-IB-7647-10A-01D-2154-08 Untested Somatic Phase_I WXS none Illumina GAIIx d2579415-7e40-48ba-a59c-e5543b8097dc fae3bedd-75e3-4f2a-86fa-c7e2c4dd4880 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 7 232 --- --- --- --- PPARGC1B 133522 broad.mit.edu 37 5 149216457 149216459 + In_Frame_Del DEL GGA GGA - TCGA-IB-7647-01A-11D-2154-08 TCGA-IB-7647-10A-01D-2154-08 Untested Somatic Phase_I WXS none Illumina GAIIx d2579415-7e40-48ba-a59c-e5543b8097dc fae3bedd-75e3-4f2a-86fa-c7e2c4dd4880 g.chr5:149216457_149216459delGGA ENST00000309241.5 + 8 2471_2473 c.2439_2441delGGA c.(2437-2442)ggg>gg p.GE813del PPARGC1B_ENST00000403750.1_In_Frame_Del_p.GE749del|PPARGC1B_ENST00000360453.4_In_Frame_Del_p.GE774del|PPARGC1B_ENST00000394320.3_In_Frame_Del_p.GE813del NM_133263.3 NP_573570.3 Q86YN6 PRGC2_HUMAN peroxisome proliferator-activated receptor gamma, coactivator 1 beta 813 Glu-rich. estrogen receptor signaling pathway|positive regulation of transcription from RNA polymerase II promoter mediator complex AF-2 domain binding|estrogen receptor binding|ligand-dependent nuclear receptor transcription coactivator activity|nucleotide binding|receptor activator activity|RNA binding|RNA polymerase II transcription cofactor activity NS(1)|breast(1)|endometrium(1)|kidney(3)|large_intestine(1)|liver(2)|lung(15)|ovary(3)|prostate(2)|stomach(1) 30 KIRC - Kidney renal clear cell carcinoma(527;0.000962)|Kidney(363;0.00147) aggaagaaggggaggaggaggag 0.606 9 495 --- --- --- --- BNIP1 662 broad.mit.edu 37 5 172578611 172578611 + Frame_Shift_Del DEL T T - TCGA-IB-7647-01A-11D-2154-08 TCGA-IB-7647-10A-01D-2154-08 Untested Somatic Phase_I WXS none Illumina GAIIx d2579415-7e40-48ba-a59c-e5543b8097dc fae3bedd-75e3-4f2a-86fa-c7e2c4dd4880 g.chr5:172578611delT ENST00000231668.9 + 3 324 c.220delT c.(220-222)ttfs p.F76fs BNIP1_ENST00000352523.6_Frame_Shift_Del_p.F76fs|BNIP1_ENST00000393770.4_Intron|BNIP1_ENST00000351486.5_Intron NM_013979.2 NP_053582.2 Q12981 SEC20_HUMAN BCL2/adenovirus E1B 19kDa interacting protein 1 59 anti-apoptosis|apoptosis|endoplasmic reticulum membrane fusion|endoplasmic reticulum organization|induction of apoptosis|vesicle-mediated transport integral to endoplasmic reticulum membrane|nuclear envelope|SNARE complex protein binding breast(1)|kidney(2)|large_intestine(2)|lung(3)|ovary(1)|pancreas(1)|skin(1) 11 Renal(175;0.000159)|Lung NSC(126;0.00199)|all_lung(126;0.00351) Medulloblastoma(196;0.0208)|all_neural(177;0.0416) Kidney(164;3.85e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000183) TGCTTCCACATTTTTTTTTAA 0.348 11 504 --- --- --- --- RREB1 6239 broad.mit.edu 37 6 7229287 7229288 + Frame_Shift_Ins INS - - ACAC TCGA-IB-7647-01A-11D-2154-08 TCGA-IB-7647-10A-01D-2154-08 Untested Somatic Phase_I WXS none Illumina GAIIx d2579415-7e40-48ba-a59c-e5543b8097dc fae3bedd-75e3-4f2a-86fa-c7e2c4dd4880 g.chr6:7229287_7229288insACAC ENST00000379938.2 + 10 1492_1493 c.955_956insACAC c.(955-957)cacfs p.H319fs RREB1_ENST00000349384.6_Frame_Shift_Ins_p.H319fs|RREB1_ENST00000334984.6_Frame_Shift_Ins_p.H319fs|RREB1_ENST00000379933.3_Frame_Shift_Ins_p.H319fs NM_001003699.3|NM_001003700.1 NP_001003699.1|NP_001003700.1 Q92766 RREB1_HUMAN ras responsive element binding protein 1 319 multicellular organismal development|positive regulation of transcription, DNA-dependent|Ras protein signal transduction|transcription from RNA polymerase II promoter cytoplasm|nuclear speck DNA binding|zinc ion binding breast(3)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(5)|lung(18)|ovary(5)|pancreas(2)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2) 58 Ovarian(93;0.0398) all_hematologic(90;0.0384)|Prostate(151;0.191) TTTTGTCTGCGACACCTGTGAC 0.574 18 157 --- --- --- --- RIOK1 83732 broad.mit.edu 37 6 7393450 7393452 + In_Frame_Del DEL GAC GAC - rs2274212 byFrequency TCGA-IB-7647-01A-11D-2154-08 TCGA-IB-7647-10A-01D-2154-08 Untested Somatic Phase_I WXS none Illumina GAIIx d2579415-7e40-48ba-a59c-e5543b8097dc fae3bedd-75e3-4f2a-86fa-c7e2c4dd4880 g.chr6:7393450_7393452delGAC ENST00000379834.2 + 2 697_699 c.190_192delGAC c.(190-192)del p.D69del NM_031480.2|NM_153005.1 NP_113668.2|NP_694550.1 Q9BRS2 RIOK1_HUMAN RIO kinase 1 69 ATP binding|protein serine/threonine kinase activity p.D57G(1) cervix(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(6)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1) 19 Ovarian(93;0.0418) ggagggttatgacgatgatgatg 0.433 7 414 --- --- --- --- BTN2A3P 0 broad.mit.edu 37 6 26422388 26422390 + RNA DEL CCT CCT - rs113134648 TCGA-IB-7647-01A-11D-2154-08 TCGA-IB-7647-10A-01D-2154-08 Untested Somatic Phase_I WXS none Illumina GAIIx d2579415-7e40-48ba-a59c-e5543b8097dc fae3bedd-75e3-4f2a-86fa-c7e2c4dd4880 g.chr6:26422388_26422390delCCT ENST00000466808.2 + 0 42_44 GGCCAGCCTCCCTCCTCCTCCTC 0.586 11 585 --- --- --- --- HIST1H1B 3009 broad.mit.edu 37 6 27834859 27834859 + Frame_Shift_Del DEL T T - TCGA-IB-7647-01A-11D-2154-08 TCGA-IB-7647-10A-01D-2154-08 Untested Somatic Phase_I WXS none Illumina GAIIx d2579415-7e40-48ba-a59c-e5543b8097dc fae3bedd-75e3-4f2a-86fa-c7e2c4dd4880 g.chr6:27834859delT ENST00000331442.3 - 1 500 c.449delA c.(448-450)agfs p.K150fs NM_005322.2 NP_005313.1 P16401 H15_HUMAN histone cluster 1, H1b 150 nucleosome assembly nucleosome|nucleus DNA binding p.K150R(1) endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(5)|lung(12)|prostate(2)|upper_aerodigestive_tract(2) 24 CTTCACTGCCTTTTTCGCCCC 0.622 7 1343 --- --- --- --- TNXB 7148 broad.mit.edu 37 6 32063513 32063514 + Frame_Shift_Del DEL AC AC - TCGA-IB-7647-01A-11D-2154-08 TCGA-IB-7647-10A-01D-2154-08 Untested Somatic Phase_I WXS none Illumina GAIIx d2579415-7e40-48ba-a59c-e5543b8097dc fae3bedd-75e3-4f2a-86fa-c7e2c4dd4880 g.chr6:32063513_32063514delAC ENST00000375244.3 - 3 2317_2318 c.2116_2117delGT c.(2116-2118)afs p.V706fs TNXB_ENST00000479795.1_Frame_Shift_Del_p.V706fs|TNXB_ENST00000375247.2_Frame_Shift_Del_p.V706fs P22105 TENX_HUMAN tenascin XB 706 EGF-like 18. 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 GAAGCCCTCTACACACACACAC 0.668 8 163 --- --- --- --- MDFI 4188 broad.mit.edu 37 6 41621169 41621171 + In_Frame_Del DEL CTG CTG - TCGA-IB-7647-01A-11D-2154-08 TCGA-IB-7647-10A-01D-2154-08 Untested Somatic Phase_I WXS none Illumina GAIIx d2579415-7e40-48ba-a59c-e5543b8097dc fae3bedd-75e3-4f2a-86fa-c7e2c4dd4880 g.chr6:41621169_41621171delCTG ENST00000373050.4 + 4 601_603 c.414_416delCTG c.(412-417)ctc>ct p.LC138del Q99750 MDFI_HUMAN MyoD family inhibitor 199 cytoplasmic sequestering of transcription factor|dorsal/ventral axis specification|negative regulation of DNA binding|negative regulation of transcription from RNA polymerase II promoter|negative regulation of Wnt receptor signaling pathway cytoplasm|nucleus endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|liver(2)|prostate(2)|skin(1)|urinary_tract(1) 8 Ovarian(28;0.0327)|Colorectal(47;0.121) Colorectal(64;0.0123)|COAD - Colon adenocarcinoma(64;0.0264)|KIRC - Kidney renal clear cell carcinoma(1;0.138) ACTCGTGCCTCTGCTGCTGCTGC 0.655 12 843 --- --- --- --- TTK 7272 broad.mit.edu 37 6 80751896 80751897 + Frame_Shift_Ins INS - - A TCGA-IB-7647-01A-11D-2154-08 TCGA-IB-7647-10A-01D-2154-08 Untested Somatic Phase_I WXS none Illumina GAIIx d2579415-7e40-48ba-a59c-e5543b8097dc fae3bedd-75e3-4f2a-86fa-c7e2c4dd4880 g.chr6:80751896_80751897insA ENST00000509894.1 + 22 3377_3378 c.2548_2549insA c.(2548-2550)aaafs p.K850fs TTK_ENST00000369798.2_Frame_Shift_Ins_p.K851fs|TTK_ENST00000230510.3_Frame_Shift_Ins_p.K850fs P33981 TTK_HUMAN TTK protein kinase 851 mitotic cell cycle spindle assembly checkpoint|mitotic spindle organization|positive regulation of cell proliferation|positive regulation of pathway-restricted SMAD protein phosphorylation spindle ATP binding|identical protein binding|protein serine/threonine kinase activity|protein tyrosine kinase activity p.R838fs*4(3)|p.R838fs*>4(2)|p.R838fs*>5(1) endometrium(4)|kidney(2)|large_intestine(12)|lung(22)|ovary(7)|pancreas(1)|prostate(1)|stomach(3)|urinary_tract(1) 53 all_cancers(76;0.00177)|Acute lymphoblastic leukemia(125;1.24e-05)|all_hematologic(105;0.00223)|all_epithelial(107;0.2) BRCA - Breast invasive adenocarcinoma(397;0.0321) CAAGACTTTTGAAAAAAAAAGG 0.302 11 283 --- --- --- --- RARS2 57038 broad.mit.edu 37 6 88229955 88229955 + Frame_Shift_Del DEL T T - TCGA-IB-7647-01A-11D-2154-08 TCGA-IB-7647-10A-01D-2154-08 Untested Somatic Phase_I WXS none Illumina GAIIx d2579415-7e40-48ba-a59c-e5543b8097dc fae3bedd-75e3-4f2a-86fa-c7e2c4dd4880 g.chr6:88229955delT ENST00000369536.5 - 13 1100 c.1055delA c.(1054-1056)agfs p.K352fs NM_020320.3 NP_064716.2 Q5T160 SYRM_HUMAN arginyl-tRNA synthetase 2, mitochondrial 352 arginyl-tRNA aminoacylation mitochondrial matrix arginine-tRNA ligase activity|ATP binding|protein binding breast(1)|central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(6)|lung(7)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1) 22 all_cancers(76;3.93e-06)|Acute lymphoblastic leukemia(125;3.55e-10)|Prostate(29;3.51e-09)|all_hematologic(105;3.29e-06)|all_epithelial(107;0.00575) BRCA - Breast invasive adenocarcinoma(108;0.0456) CTGAAAATGCTTTTTTTGTCC 0.333 7 1097 --- --- --- --- PPIL6 285755 broad.mit.edu 37 6 109757309 109757309 + Frame_Shift_Del DEL T T - TCGA-IB-7647-01A-11D-2154-08 TCGA-IB-7647-10A-01D-2154-08 Untested Somatic Phase_I WXS none Illumina GAIIx d2579415-7e40-48ba-a59c-e5543b8097dc fae3bedd-75e3-4f2a-86fa-c7e2c4dd4880 g.chr6:109757309delT ENST00000521072.2 - 2 809 c.229delA c.(229-231)ggfs p.R77fs PPIL6_ENST00000440797.2_Frame_Shift_Del_p.R77fs|PPIL6_ENST00000424445.2_Intron NM_173672.4 NP_775943.1 Q8IXY8 PPIL6_HUMAN peptidylprolyl isomerase (cyclophilin)-like 6 77 protein folding peptidyl-prolyl cis-trans isomerase activity large_intestine(3)|lung(1)|skin(1)|upper_aerodigestive_tract(1) 6 all_cancers(87;1.1e-06)|Acute lymphoblastic leukemia(125;2.66e-08)|all_hematologic(75;1.13e-06)|all_epithelial(87;0.000144)|all_lung(197;0.0221)|Colorectal(196;0.0488)|Lung SC(18;0.0548) Epithelial(106;0.00684)|BRCA - Breast invasive adenocarcinoma(108;0.00889)|all cancers(137;0.0106)|OV - Ovarian serous cystadenocarcinoma(136;0.0259) TCCTTTACCCTTTTTTTCTCC 0.338 7 621 --- --- --- --- KIAA1919 91749 broad.mit.edu 37 6 111587361 111587361 + Frame_Shift_Del DEL T T - TCGA-IB-7647-01A-11D-2154-08 TCGA-IB-7647-10A-01D-2154-08 Untested Somatic Phase_I WXS none Illumina GAIIx d2579415-7e40-48ba-a59c-e5543b8097dc fae3bedd-75e3-4f2a-86fa-c7e2c4dd4880 g.chr6:111587361delT ENST00000368847.4 + 4 949 c.596delT c.(595-597)atfs p.I199fs NM_153369.2 NP_699200.2 Q5TF39 NAGT1_HUMAN KIAA1919 199 carbohydrate transport|sodium ion transport apical plasma membrane|integral to membrane symporter activity large_intestine(3)|lung(2)|ovary(4)|skin(3) 12 all_cancers(87;2.35e-05)|Acute lymphoblastic leukemia(125;2.13e-07)|all_hematologic(75;5.28e-06)|all_epithelial(87;0.00138)|Colorectal(196;0.0209) OV - Ovarian serous cystadenocarcinoma(136;0.055)|all cancers(137;0.0871)|Epithelial(106;0.0884) GTTTCTGTCATTTTTTTTTGT 0.368 8 255 --- --- --- --- GRM1 2911 broad.mit.edu 37 6 146755399 146755401 + In_Frame_Del DEL CAG CAG - TCGA-IB-7647-01A-11D-2154-08 TCGA-IB-7647-10A-01D-2154-08 Untested Somatic Phase_I WXS none Illumina GAIIx d2579415-7e40-48ba-a59c-e5543b8097dc fae3bedd-75e3-4f2a-86fa-c7e2c4dd4880 g.chr6:146755399_146755401delCAG ENST00000361719.2 + 9 3522_3524 c.3052_3054delCAG c.(3052-3054)del p.Q1022del GRM1_ENST00000392299.2_3'UTR|GRM1_ENST00000282753.1_In_Frame_Del_p.Q1022del|GRM1_ENST00000355289.4_3'UTR|GRM1_ENST00000507907.1_3'UTR|GRM1_ENST00000492807.2_3'UTR NM_001278064.1 NP_001264993.1 Q13255 GRM1_HUMAN glutamate receptor, metabotropic 1 1022 Gln/Pro-rich. synaptic transmission integral to plasma membrane G-protein coupled receptor activity|glutamate receptor activity NS(2)|breast(5)|central_nervous_system(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(23)|lung(54)|ovary(7)|pancreas(2)|prostate(5)|skin(7)|upper_aerodigestive_tract(4)|urinary_tract(1) 126 Ovarian(120;0.0387) OV - Ovarian serous cystadenocarcinoma(155;5.35e-08)|GBM - Glioblastoma multiforme(68;0.00762) Acamprosate(DB00659)|L-Glutamic Acid(DB00142) CCCTCCTCTCCAGCAGCAGCAGC 0.660 7 664 --- --- --- --- MLLT4 4301 broad.mit.edu 37 6 168317900 168317900 + Frame_Shift_Del DEL T T - TCGA-IB-7647-01A-11D-2154-08 TCGA-IB-7647-10A-01D-2154-08 Untested Somatic Phase_I WXS none Illumina GAIIx d2579415-7e40-48ba-a59c-e5543b8097dc fae3bedd-75e3-4f2a-86fa-c7e2c4dd4880 g.chr6:168317900delT ENST00000366806.2 + 19 2818 c.2676delT c.(2674-2676)ccfs p.P892fs MLLT4_ENST00000351017.4_Frame_Shift_Del_p.P899fs|MLLT4_ENST00000344191.4_Frame_Shift_Del_p.P892fs|MLLT4_ENST00000400822.3_Frame_Shift_Del_p.P891fs|MLLT4_ENST00000392108.3_Frame_Shift_Del_p.P892fs|MLLT4_ENST00000392112.1_Frame_Shift_Del_p.P876fs|MLLT4_ENST00000447894.2_Frame_Shift_Del_p.P892fs P55196 AFAD_HUMAN myeloid/lymphoid or mixed-lineage leukemia (trithorax homolog, Drosophila); translocated to, 4 892 Dilute. adherens junction organization|cell adhesion|cell junction assembly|cell-cell signaling|signal transduction adherens junction|cell-cell junction|cytosol|nucleus protein C-terminus binding breast(4)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(13)|large_intestine(10)|lung(19)|ovary(2)|pancreas(1)|prostate(2)|skin(1)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1) 65 Breast(66;1.07e-05)|Ovarian(120;0.024) Epithelial(4;2.38e-32)|OV - Ovarian serous cystadenocarcinoma(33;9.99e-23)|BRCA - Breast invasive adenocarcinoma(4;1.2e-11)|GBM - Glioblastoma multiforme(31;0.00117) CTGATGAGCCTTTTATCCCAA 0.398 T MLL AL 8 860 --- --- --- --- TMEM184A 202915 broad.mit.edu 37 7 1586662 1586663 + In_Frame_Ins INS - - GCC rs3837151 by1000genomes TCGA-IB-7647-01A-11D-2154-08 TCGA-IB-7647-10A-01D-2154-08 Untested Somatic Phase_I WXS none Illumina GAIIx d2579415-7e40-48ba-a59c-e5543b8097dc fae3bedd-75e3-4f2a-86fa-c7e2c4dd4880 g.chr7:1586662_1586663insGCC ENST00000297477.5 - 9 1483_1484 c.1167_1168insGGC c.(1165-1170)ccgcgg>ccGGCgcgg p.389_390PR>PAR NM_001097620.1 NP_001091089.1 Q6ZMB5 T184A_HUMAN transmembrane protein 184A 389 integral to membrane endometrium(1)|large_intestine(1)|lung(6)|upper_aerodigestive_tract(3)|urinary_tract(1) 12 Ovarian(82;0.0253) UCEC - Uterine corpus endometrioid carcinoma (27;0.0178)|OV - Ovarian serous cystadenocarcinoma(56;5.88e-15) GAGCCGCCGCTGGGGTGGGTGC 0.703 18 160 --- --- --- --- CARD11 84433 broad.mit.edu 37 7 2963941 2963943 + In_Frame_Del DEL GGA GGA - TCGA-IB-7647-01A-11D-2154-08 TCGA-IB-7647-10A-01D-2154-08 Untested Somatic Phase_I WXS none Illumina GAIIx d2579415-7e40-48ba-a59c-e5543b8097dc fae3bedd-75e3-4f2a-86fa-c7e2c4dd4880 g.chr7:2963941_2963943delGGA ENST00000396946.4 - 15 2267_2269 c.1864_1866delTCC c.(1864-1866)del p.S622del NM_032415.4 NP_115791.3 Q9BXL7 CAR11_HUMAN caspase recruitment domain family, member 11 622 positive regulation of cytokine production|positive regulation of NF-kappaB transcription factor activity|regulation of apoptosis|T cell costimulation|T cell receptor signaling pathway cytosol|membrane raft|plasma membrane CARD domain binding|guanylate kinase activity NS(1)|breast(3)|central_nervous_system(1)|cervix(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(62)|kidney(11)|large_intestine(13)|lung(31)|ovary(4)|prostate(5)|skin(7)|upper_aerodigestive_tract(2) 150 Ovarian(82;0.0115) OV - Ovarian serous cystadenocarcinoma(56;8.44e-14) CGGATTGGTGGGAGGAGGAGGAG 0.616 Mis DLBCL 9 287 --- --- --- --- POU6F2 11281 broad.mit.edu 37 7 39379288 39379290 + In_Frame_Del DEL CAG CAG - TCGA-IB-7647-01A-11D-2154-08 TCGA-IB-7647-10A-01D-2154-08 Untested Somatic Phase_I WXS none Illumina GAIIx d2579415-7e40-48ba-a59c-e5543b8097dc fae3bedd-75e3-4f2a-86fa-c7e2c4dd4880 g.chr7:39379288_39379290delCAG ENST00000518318.2 + 5 601_603 c.559_561delCAG c.(559-561)del p.Q196del POU6F2_ENST00000517348.1_3'UTR|POU6F2_ENST00000403058.1_In_Frame_Del_p.Q196del|POU6F2_ENST00000559001.1_In_Frame_Del_p.Q188del P78424 PO6F2_HUMAN POU class 6 homeobox 2 196 Gln-rich. Q -> QQ (in Ref. 1; AAB49727/AAB49728). central nervous system development|ganglion mother cell fate determination|transcription from RNA polymerase II promoter|visual perception sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity NS(3)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(4)|lung(16)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(2) 42 gctccagctccagcagcagcagc 0.616 8 137 --- --- --- --- ABCA13 154664 broad.mit.edu 37 7 48318519 48318519 + Frame_Shift_Del DEL A A - TCGA-IB-7647-01A-11D-2154-08 TCGA-IB-7647-10A-01D-2154-08 Untested Somatic Phase_I WXS none Illumina GAIIx d2579415-7e40-48ba-a59c-e5543b8097dc fae3bedd-75e3-4f2a-86fa-c7e2c4dd4880 g.chr7:48318519delA ENST00000435803.1 + 18 7752 c.7728delA c.(7726-7728)ttfs p.L2576fs NM_152701.3 NP_689914.2 Q86UQ4 ABCAD_HUMAN ATP-binding cassette, sub-family A (ABC1), member 13 2576 transport integral to membrane ATP binding|ATPase activity p.L2576F(3)|p.L2521F(2) breast(13)|central_nervous_system(8)|endometrium(25)|haematopoietic_and_lymphoid_tissue(4)|kidney(20)|large_intestine(51)|lung(100)|ovary(5)|pancreas(2)|prostate(22)|skin(10)|stomach(3)|upper_aerodigestive_tract(3)|urinary_tract(4) 270 TAGCTACTTTAAAAAAAATAG 0.313 7 582 --- --- --- --- HIP1 3092 broad.mit.edu 37 7 75168684 75168684 + Frame_Shift_Del DEL T T - TCGA-IB-7647-01A-11D-2154-08 TCGA-IB-7647-10A-01D-2154-08 Untested Somatic Phase_I WXS none Illumina GAIIx d2579415-7e40-48ba-a59c-e5543b8097dc fae3bedd-75e3-4f2a-86fa-c7e2c4dd4880 g.chr7:75168684delT ENST00000336926.6 - 30 3046 c.3020delA c.(3019-3021)agfs p.K1007fs HIP1_ENST00000434438.2_Frame_Shift_Del_p.K956fs NM_005338.5 NP_005329.3 O00291 HIP1_HUMAN huntingtin interacting protein 1 1007 I/LWEQ. activation of caspase activity|cell differentiation|clathrin coat assembly|endocytosis|induction of apoptosis|positive regulation of receptor-mediated endocytosis|regulation of transcription, DNA-dependent|transcription, DNA-dependent clathrin coated vesicle membrane|cytoskeleton|Golgi apparatus|membrane fraction|nucleus actin binding|clathrin binding|phosphatidylinositol binding|structural constituent of cytoskeleton breast(3)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|lung(25)|ovary(2)|pancreas(2)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 51 CTCGTAGTGCTTTTTCCGAAG 0.507 T PDGFRB CMML 7 2142 --- --- --- --- WASL 8976 broad.mit.edu 37 7 123332873 123332875 + In_Frame_Del DEL GGA GGA - TCGA-IB-7647-01A-11D-2154-08 TCGA-IB-7647-10A-01D-2154-08 Untested Somatic Phase_I WXS none Illumina GAIIx d2579415-7e40-48ba-a59c-e5543b8097dc fae3bedd-75e3-4f2a-86fa-c7e2c4dd4880 g.chr7:123332873_123332875delGGA ENST00000223023.4 - 9 1205_1207 c.873_875delTCC c.(871-876)ccc>cc p.PP293del NM_003941.2 NP_003932.3 O00401 WASL_HUMAN Wiskott-Aldrich syndrome-like 293 Pro-rich. actin polymerization or depolymerization|axon guidance|cellular component movement|nitric oxide metabolic process|protein complex assembly|regulation of nitric-oxide synthase activity|regulation of transcription, DNA-dependent|transcription, DNA-dependent actin cytoskeleton|cytosol|nucleolus|plasma membrane actin binding|small GTPase regulator activity endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(8)|lung(9)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 29 gtgtggagggggaggaggaggag 0.567 8 484 --- --- --- --- PRSS3P2 0 broad.mit.edu 37 7 142482025 142482025 + RNA DEL A A - TCGA-IB-7647-01A-11D-2154-08 TCGA-IB-7647-10A-01D-2154-08 Untested Somatic Phase_I WXS none Illumina GAIIx d2579415-7e40-48ba-a59c-e5543b8097dc fae3bedd-75e3-4f2a-86fa-c7e2c4dd4880 g.chr7:142482025delA ENST00000603901.1 + 0 591 NR_001296.3 TGCAGTGCCCACATGGAGAAG 0.572 9 45 --- --- --- --- NEFL 4747 broad.mit.edu 37 8 24811843 24811843 + RNA DEL A A - TCGA-IB-7647-01A-11D-2154-08 TCGA-IB-7647-10A-01D-2154-08 Untested Somatic Phase_I WXS none Illumina GAIIx d2579415-7e40-48ba-a59c-e5543b8097dc fae3bedd-75e3-4f2a-86fa-c7e2c4dd4880 g.chr8:24811843delA ENST00000221169.5 - 0 1639 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) AAAATAAAACAAAAAAAAAAT 0.328 17 272 --- --- --- --- STAU2 27067 broad.mit.edu 37 8 74507471 74507471 + Frame_Shift_Del DEL T T - TCGA-IB-7647-01A-11D-2154-08 TCGA-IB-7647-10A-01D-2154-08 Untested Somatic Phase_I WXS none Illumina GAIIx d2579415-7e40-48ba-a59c-e5543b8097dc fae3bedd-75e3-4f2a-86fa-c7e2c4dd4880 g.chr8:74507471delT ENST00000355780.5 - 10 1213 c.995delA c.(994-996)atfs p.N332fs STAU2_ENST00000522695.1_Frame_Shift_Del_p.N332fs|STAU2_ENST00000517542.1_Frame_Shift_Del_p.N326fs|STAU2_ENST00000522509.1_Frame_Shift_Del_p.N332fs|STAU2_ENST00000523558.1_Frame_Shift_Del_p.N192fs|STAU2_ENST00000521451.1_Frame_Shift_Del_p.N144fs|STAU2_ENST00000519961.1_Frame_Shift_Del_p.N364fs|STAU2_ENST00000521727.1_Frame_Shift_Del_p.N344fs|STAU2_ENST00000524300.1_Frame_Shift_Del_p.N364fs|STAU2_ENST00000521210.1_Frame_Shift_Del_p.N260fs NM_014393.2 NP_055208.2 Q9NUL3 STAU2_HUMAN staufen double-stranded RNA binding protein 2 364 DRBM 4. transport endoplasmic reticulum|microtubule|nucleolus double-stranded RNA binding p.N332fs*67(1) breast(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(5)|liver(1)|lung(6)|ovary(1) 19 Breast(64;0.0138) Epithelial(68;0.026)|BRCA - Breast invasive adenocarcinoma(89;0.0483)|all cancers(69;0.0972) TTCTGCAGCATTTTTTTTGGC 0.328 9 532 --- --- --- --- RP11-586K2.1 0 broad.mit.edu 37 8 89498121 89498122 + RNA INS - - A TCGA-IB-7647-01A-11D-2154-08 TCGA-IB-7647-10A-01D-2154-08 Untested Somatic Phase_I WXS none Illumina GAIIx d2579415-7e40-48ba-a59c-e5543b8097dc fae3bedd-75e3-4f2a-86fa-c7e2c4dd4880 g.chr8:89498121_89498122insA ENST00000521433.1 + 0 179 RP11-586K2.1_ENST00000523254.1_RNA gaacagctatgaaaaaaaaaac 0.386 10 92 --- --- --- --- TSNARE1 203062 broad.mit.edu 37 8 143310866 143310868 + In_Frame_Del DEL GAT GAT - rs142964918 TCGA-IB-7647-01A-11D-2154-08 TCGA-IB-7647-10A-01D-2154-08 Untested Somatic Phase_I WXS none Illumina GAIIx d2579415-7e40-48ba-a59c-e5543b8097dc fae3bedd-75e3-4f2a-86fa-c7e2c4dd4880 g.chr8:143310866_143310868delGAT ENST00000524325.1 - 13 1691_1693 c.1516_1518delATC c.(1516-1518)del p.I506del TSNARE1_ENST00000520166.1_In_Frame_Del_p.I507del|TSNARE1_ENST00000307180.3_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 18 476 --- --- --- --- MLLT3 4300 broad.mit.edu 37 9 20414278 20414280 + In_Frame_Del DEL CTG CTG - TCGA-IB-7647-01A-11D-2154-08 TCGA-IB-7647-10A-01D-2154-08 Untested Somatic Phase_I WXS none Illumina GAIIx d2579415-7e40-48ba-a59c-e5543b8097dc fae3bedd-75e3-4f2a-86fa-c7e2c4dd4880 g.chr9:20414278_20414280delCTG ENST00000380338.4 - 5 850_852 c.564_566delCAG c.(562-567)agt>ag p.SS188del MLLT3_ENST00000355930.6_5'UTR|MLLT3_ENST00000429426.2_In_Frame_Del_p.SS185del|MLLT3_ENST00000475957.1_5'UTR NM_004529.2 NP_004520.2 P42568 AF9_HUMAN myeloid/lymphoid or mixed-lineage leukemia (trithorax homolog, Drosophila); translocated to, 3 188 Poly-Ser. regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus protein binding p.S188S(1) 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) ACTGGTActactgctgctgctgc 0.507 T MLL ALL 8 881 --- --- --- --- FKBP15 23307 broad.mit.edu 37 9 115969556 115969556 + Frame_Shift_Del DEL T T - TCGA-IB-7647-01A-11D-2154-08 TCGA-IB-7647-10A-01D-2154-08 Untested Somatic Phase_I WXS none Illumina GAIIx d2579415-7e40-48ba-a59c-e5543b8097dc fae3bedd-75e3-4f2a-86fa-c7e2c4dd4880 g.chr9:115969556delT ENST00000238256.3 - 3 307 c.190delA c.(190-192)cafs p.T64fs FKBP15_ENST00000493847.1_5'UTR NM_015258.1 NP_056073.1 Q5T1M5 FKB15_HUMAN FK506 binding protein 15, 133kDa 64 endocytosis|protein folding axon|early endosome actin binding breast(1)|central_nervous_system(1)|endometrium(4)|kidney(4)|large_intestine(3)|lung(9)|ovary(3)|urinary_tract(1) 26 GCTGGTGCTGTTTTTGGTGTT 0.418 7 1475 --- --- --- --- ASTN2 23245 broad.mit.edu 37 9 119976989 119976991 + In_Frame_Del DEL CAG CAG - TCGA-IB-7647-01A-11D-2154-08 TCGA-IB-7647-10A-01D-2154-08 Untested Somatic Phase_I WXS none Illumina GAIIx d2579415-7e40-48ba-a59c-e5543b8097dc fae3bedd-75e3-4f2a-86fa-c7e2c4dd4880 g.chr9:119976989_119976991delCAG ENST00000313400.4 - 3 761_763 c.661_663delCTG c.(661-663)del p.L221del ASTN2_ENST00000373996.3_In_Frame_Del_p.L221del|ASTN2_ENST00000361477.3_5'UTR|ASTN2_ENST00000361209.2_In_Frame_Del_p.L221del O75129 ASTN2_HUMAN astrotactin 2 221 integral to membrane breast(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(21)|lung(45)|ovary(4)|pancreas(2)|prostate(2)|skin(9)|stomach(1)|urinary_tract(1) 102 CGGTGAACACCAGCAGCAGCAGC 0.601 13 281 --- --- --- --- PCDH15 65217 broad.mit.edu 37 10 55587198 55587200 + In_Frame_Del DEL GGC GGC - rs12246234 TCGA-IB-7647-01A-11D-2154-08 TCGA-IB-7647-10A-01D-2154-08 Untested Somatic Phase_I WXS none Illumina GAIIx d2579415-7e40-48ba-a59c-e5543b8097dc fae3bedd-75e3-4f2a-86fa-c7e2c4dd4880 g.chr10:55587198_55587200delGGC ENST00000373965.2 - 33 4735_4737 c.4341_4343delGCC c.(4339-4344)cct>cc p.PP1449del PCDH15_ENST00000414778.1_In_Frame_Del_p.PP1444del|PCDH15_ENST00000320301.6_In_Frame_Del_p.PP1442del|PCDH15_ENST00000395446.1_Intron|PCDH15_ENST00000395433.1_In_Frame_Del_p.PP1417del|PCDH15_ENST00000409834.1_In_Frame_Del_p.PP1053del|PCDH15_ENST00000395442.1_Intron|PCDH15_ENST00000395438.1_In_Frame_Del_p.PP1442del|PCDH15_ENST00000373957.3_Intron|PCDH15_ENST00000395430.1_In_Frame_Del_p.PP1439del|PCDH15_ENST00000395445.1_In_Frame_Del_p.PP1449del|PCDH15_ENST00000463095.1_5'UTR|PCDH15_ENST00000395432.2_In_Frame_Del_p.PP1402del|PCDH15_ENST00000437009.1_In_Frame_Del_p.PP1371del|PCDH15_ENST00000361849.3_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) 9 525 --- --- --- --- RUFY2 55680 broad.mit.edu 37 10 70156583 70156583 + Frame_Shift_Del DEL T T - TCGA-IB-7647-01A-11D-2154-08 TCGA-IB-7647-10A-01D-2154-08 Untested Somatic Phase_I WXS none Illumina GAIIx d2579415-7e40-48ba-a59c-e5543b8097dc fae3bedd-75e3-4f2a-86fa-c7e2c4dd4880 g.chr10:70156583delT ENST00000388768.2 - 4 783 c.457delA c.(457-459)tgfs p.M153fs RUFY2_ENST00000399200.2_Intron|RUFY2_ENST00000454950.2_Frame_Shift_Del_p.M60fs|RUFY2_ENST00000472394.2_5'UTR|RUFY2_ENST00000342616.4_Frame_Shift_Del_p.M118fs|RUFY2_ENST00000602465.1_Frame_Shift_Del_p.M118fs NM_017987.4 NP_060457.4 Q8WXA3 RUFY2_HUMAN RUN and FYVE domain containing 2 167 RUN. nucleus metal ion binding NS(1)|endometrium(2)|kidney(3)|large_intestine(1)|lung(10)|ovary(1)|upper_aerodigestive_tract(2) 20 TAATCGGCCATTTTTTTTTGC 0.398 16 351 --- --- --- --- CCAR1 55749 broad.mit.edu 37 10 70509285 70509286 + Frame_Shift_Del DEL GA GA - TCGA-IB-7647-01A-11D-2154-08 TCGA-IB-7647-10A-01D-2154-08 Untested Somatic Phase_I WXS none Illumina GAIIx d2579415-7e40-48ba-a59c-e5543b8097dc fae3bedd-75e3-4f2a-86fa-c7e2c4dd4880 g.chr10:70509285_70509286delGA ENST00000265872.6 + 10 1080_1081 c.961_962delGA c.(961-963)gfs p.E321fs CCAR1_ENST00000543719.1_Frame_Shift_Del_p.E306fs|CCAR1_ENST00000535016.1_Frame_Shift_Del_p.E306fs NM_018237.2 NP_060707.2 Q8IX12 CCAR1_HUMAN cell division cycle and apoptosis regulator 1 321 Arg-rich. apoptosis|cell cycle|nuclear mRNA splicing, via spliceosome|regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleoplasm|perinuclear region of cytoplasm calcium ion binding|nucleic acid binding|protein binding NS(1)|autonomic_ganglia(1)|breast(4)|central_nervous_system(3)|cervix(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(9)|lung(13)|ovary(7)|skin(3) 56 TTTCAGTCGTGAGAGAGAGAGA 0.391 11 284 --- --- --- --- ZMIZ1 57178 broad.mit.edu 37 10 81070787 81070789 + In_Frame_Del DEL CTC CTC - TCGA-IB-7647-01A-11D-2154-08 TCGA-IB-7647-10A-01D-2154-08 Untested Somatic Phase_I WXS none Illumina GAIIx d2579415-7e40-48ba-a59c-e5543b8097dc fae3bedd-75e3-4f2a-86fa-c7e2c4dd4880 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 11 809 --- --- --- --- ABCC2 1244 broad.mit.edu 37 10 101559000 101559000 + Frame_Shift_Del DEL A A - TCGA-IB-7647-01A-11D-2154-08 TCGA-IB-7647-10A-01D-2154-08 Untested Somatic Phase_I WXS none Illumina GAIIx d2579415-7e40-48ba-a59c-e5543b8097dc fae3bedd-75e3-4f2a-86fa-c7e2c4dd4880 g.chr10:101559000delA ENST00000370449.4 + 8 1017 c.904delA c.(904-906)aafs p.K303fs NM_000392.3 NP_000383.1 Q92887 MRP2_HUMAN ATP-binding cassette, sub-family C (CFTR/MRP), member 2 303 apical plasma membrane|integral to plasma membrane ATP binding|ATPase activity, coupled to transmembrane movement of substances|organic anion transmembrane transporter activity NS(1)|breast(5)|endometrium(9)|kidney(2)|large_intestine(20)|liver(1)|lung(20)|ovary(2)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(2) 67 Colorectal(252;0.234) Epithelial(162;2.77e-10)|all cancers(201;2.47e-08) Adenosine triphosphate(DB00171)|Norgestimate(DB00957)|Pravastatin(DB00175)|Saquinavir(DB01232)|Sulfinpyrazone(DB01138) GTCTGGGACCAAAAAAGATGT 0.403 11 1501 --- --- --- --- DCLRE1A 9937 broad.mit.edu 37 10 115608957 115608957 + Frame_Shift_Del DEL T T - TCGA-IB-7647-01A-11D-2154-08 TCGA-IB-7647-10A-01D-2154-08 Untested Somatic Phase_I WXS none Illumina GAIIx d2579415-7e40-48ba-a59c-e5543b8097dc fae3bedd-75e3-4f2a-86fa-c7e2c4dd4880 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 7 1236 --- --- --- --- NLRP6 171389 broad.mit.edu 37 11 281553 281555 + In_Frame_Del DEL GAG GAG - TCGA-IB-7647-01A-11D-2154-08 TCGA-IB-7647-10A-01D-2154-08 Untested Somatic Phase_I WXS none Illumina GAIIx d2579415-7e40-48ba-a59c-e5543b8097dc fae3bedd-75e3-4f2a-86fa-c7e2c4dd4880 g.chr11:281553_281555delGAG ENST00000534750.1 + 4 2024_2026 c.1819_1821delGAG c.(1819-1821)del p.E611del NLRP6_ENST00000312165.5_In_Frame_Del_p.E611del NM_001276700.1 NP_001263629.1 P59044 NALP6_HUMAN NLR family, pyrin domain containing 6 611 Poly-Glu. cytoplasm ATP binding breast(1)|skin(1)|upper_aerodigestive_tract(2) 4 all_cancers(49;1.12e-06)|all_epithelial(84;0.000375)|Breast(177;0.00122)|Ovarian(85;0.0228)|Medulloblastoma(188;0.0321)|all_neural(188;0.0762) all cancers(45;4.28e-28)|Epithelial(43;2.47e-27)|OV - Ovarian serous cystadenocarcinoma(40;4.66e-21)|BRCA - Breast invasive adenocarcinoma(625;3.57e-05)|Lung(200;0.0485)|LUSC - Lung squamous cell carcinoma(625;0.122) CGAAGAGCCAGAGGAGGAGGAGG 0.670 8 786 --- --- --- --- TSPAN4 0 broad.mit.edu 37 11 864443 864445 + In_Frame_Del DEL CTG CTG - rs61867552 byFrequency TCGA-IB-7647-01A-11D-2154-08 TCGA-IB-7647-10A-01D-2154-08 Untested Somatic Phase_I WXS none Illumina GAIIx d2579415-7e40-48ba-a59c-e5543b8097dc fae3bedd-75e3-4f2a-86fa-c7e2c4dd4880 g.chr11:864443_864445delCTG ENST00000397404.1 + 5 521_523 c.262_264delCTG c.(262-264)del p.L92del TSPAN4_ENST00000397406.1_In_Frame_Del_p.L92del|TSPAN4_ENST00000397396.1_In_Frame_Del_p.L28del|TSPAN4_ENST00000397397.2_In_Frame_Del_p.L92del|TSPAN4_ENST00000409531.1_In_Frame_Del_p.L111del|TSPAN4_ENST00000409543.2_In_Frame_Del_p.L92del|TSPAN4_ENST00000397411.2_In_Frame_Del_p.L92del|TSPAN4_ENST00000525201.1_In_Frame_Del_p.L28del|TSPAN4_ENST00000346501.4_In_Frame_Del_p.L92del|TSPAN4_ENST00000397408.1_In_Frame_Del_p.L92del NM_001025237.1 NP_001020408.1 O14817 TSN4_HUMAN tetraspanin 4 92 protein complex assembly integral to plasma membrane breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1) 3 all_cancers(49;2.64e-08)|all_epithelial(84;4.17e-05)|Breast(177;0.000307)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.191)|all_lung(207;0.24) all cancers(45;4.32e-25)|Epithelial(43;3.29e-24)|BRCA - Breast invasive adenocarcinoma(625;4.23e-05)|Lung(200;0.0576)|LUSC - Lung squamous cell carcinoma(625;0.0703) ACAGTTCTTCCTGCTGCTGCTGC 0.650 7 653 --- --- --- --- MUC15 143662 broad.mit.edu 37 11 26587426 26587427 + Frame_Shift_Ins INS - - T TCGA-IB-7647-01A-11D-2154-08 TCGA-IB-7647-10A-01D-2154-08 Untested Somatic Phase_I WXS none Illumina GAIIx d2579415-7e40-48ba-a59c-e5543b8097dc fae3bedd-75e3-4f2a-86fa-c7e2c4dd4880 g.chr11:26587426_26587427insT ENST00000436318.2 - 2 193_194 c.60_61insA c.(58-63)aacaatfs p.NN20fs MUC15_ENST00000281268.8_Frame_Shift_Ins_p.NN20fs|ANO3_ENST00000531568.1_Intron|ANO3_ENST00000537978.1_Intron|ANO3_ENST00000525139.1_Intron|ANO3_ENST00000256737.3_Intron|MUC15_ENST00000529533.1_Frame_Shift_Ins_p.NN20fs|MUC15_ENST00000455601.2_5'UTR|MUC15_ENST00000527569.1_Frame_Shift_Ins_p.NN20fs Q8N387 MUC15_HUMAN mucin 15, cell surface associated 0 extracellular region|integral to membrane|plasma membrane breast(1)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(5)|lung(7)|ovary(1)|pancreas(1)|skin(2)|upper_aerodigestive_tract(1) 25 TTTGGTATTGGTTTTTTTTTAA 0.287 8 317 --- --- --- --- TRIM51HP 0 broad.mit.edu 37 11 55065032 55065032 + RNA DEL T T - TCGA-IB-7647-01A-11D-2154-08 TCGA-IB-7647-10A-01D-2154-08 Untested Somatic Phase_I WXS none Illumina GAIIx d2579415-7e40-48ba-a59c-e5543b8097dc fae3bedd-75e3-4f2a-86fa-c7e2c4dd4880 g.chr11:55065032delT ENST00000526016.1 - 0 393 NR_038174.2 AAAGACTGCATTTTTTTTTAG 0.398 8 308 --- --- --- --- KDM2A 22992 broad.mit.edu 37 11 67018079 67018081 + In_Frame_Del DEL GAG GAG - TCGA-IB-7647-01A-11D-2154-08 TCGA-IB-7647-10A-01D-2154-08 Untested Somatic Phase_I WXS none Illumina GAIIx d2579415-7e40-48ba-a59c-e5543b8097dc fae3bedd-75e3-4f2a-86fa-c7e2c4dd4880 g.chr11:67018079_67018081delGAG ENST00000529006.2 + 17 3024_3026 c.2578_2580delGAG c.(2578-2580)del p.E866del KDM2A_ENST00000308783.5_In_Frame_Del_p.E324del|KDM2A_ENST00000530342.1_In_Frame_Del_p.E427del|KDM2A_ENST00000526258.1_3'UTR|KDM2A_ENST00000398645.2_Intron NM_012308.2 NP_036440.1 Q9Y2K7 KDM2A_HUMAN lysine (K)-specific demethylase 2A 866 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleoplasm DNA binding|histone demethylase activity (H3-K36 specific)|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|protein binding|zinc ion binding NS(1)|breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(6)|lung(15)|ovary(5)|skin(1)|urinary_tract(2) 36 ggaggaggaagaggaggaggagg 0.655 7 174 --- --- --- --- TAF1D 79101 broad.mit.edu 37 11 93471453 93471453 + Frame_Shift_Del DEL T T - TCGA-IB-7647-01A-11D-2154-08 TCGA-IB-7647-10A-01D-2154-08 Untested Somatic Phase_I WXS none Illumina GAIIx d2579415-7e40-48ba-a59c-e5543b8097dc fae3bedd-75e3-4f2a-86fa-c7e2c4dd4880 g.chr11:93471453delT ENST00000448108.2 - 3 931 c.281delA c.(280-282)agfs p.K96fs NM_024116.3 NP_077021.1 Q9H5J8 TAF1D_HUMAN TATA box binding protein (TBP)-associated factor, RNA polymerase I, D, 41kDa 96 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|protein binding large_intestine(1)|lung(3)|prostate(1)|skin(2) 7 CCTCTTTTTCTTTTTTTTATA 0.348 7 952 --- --- --- --- KDM5A 5927 broad.mit.edu 37 12 416952 416953 + Frame_Shift_Ins INS - - T TCGA-IB-7647-01A-11D-2154-08 TCGA-IB-7647-10A-01D-2154-08 Untested Somatic Phase_I WXS none Illumina GAIIx d2579415-7e40-48ba-a59c-e5543b8097dc fae3bedd-75e3-4f2a-86fa-c7e2c4dd4880 g.chr12:416952_416953insT ENST00000399788.2 - 23 3959_3960 c.3597_3598insA c.(3595-3600)aagatcfs p.I1200fs KDM5A_ENST00000382815.4_Frame_Shift_Ins_p.I1200fs NM_001042603.1 NP_001036068.1 P29375 KDM5A_HUMAN lysine (K)-specific demethylase 5A 1200 chromatin modification|multicellular organismal development|positive regulation of transcription, DNA-dependent|transcription from RNA polymerase II promoter cytoplasm|nucleolus DNA binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|sequence-specific DNA binding transcription factor activity|zinc ion binding NS(2)|breast(4)|central_nervous_system(2)|cervix(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(14)|lung(29)|ovary(1)|prostate(5)|skin(6)|stomach(1)|urinary_tract(2) 77 CAGCTGGATCCTTTTTTTTGGG 0.475 T NUP98 AML 14 710 --- --- --- --- SCAF11 9169 broad.mit.edu 37 12 46318575 46318577 + In_Frame_Del DEL GGT GGT - TCGA-IB-7647-01A-11D-2154-08 TCGA-IB-7647-10A-01D-2154-08 Untested Somatic Phase_I WXS none Illumina GAIIx d2579415-7e40-48ba-a59c-e5543b8097dc fae3bedd-75e3-4f2a-86fa-c7e2c4dd4880 g.chr12:46318575_46318577delGGT ENST00000465950.1 - 2 4104_4106 c.2895_2897delACC c.(2893-2898)ccc>cc p.PP969del SCAF11_ENST00000549162.1_In_Frame_Del_p.PP1092del|SCAF11_ENST00000419565.2_In_Frame_Del_p.PP1284del|SCAF11_ENST00000369367.3_In_Frame_Del_p.PP1284del Q99590 SCAFB_HUMAN SR-related CTD-associated factor 11 1284 Arg-rich. spliceosome assembly nucleus protein binding|zinc ion binding breast(2)|central_nervous_system(1)|endometrium(2)|kidney(8)|large_intestine(17)|lung(25)|ovary(3)|pancreas(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(3) 69 TGGGGGAGGGGGTGGTGGTGGTG 0.483 10 454 --- --- --- --- OR10A7 121364 broad.mit.edu 37 12 55615114 55615116 + In_Frame_Del DEL CTT CTT - TCGA-IB-7647-01A-11D-2154-08 TCGA-IB-7647-10A-01D-2154-08 Untested Somatic Phase_I WXS none Illumina GAIIx d2579415-7e40-48ba-a59c-e5543b8097dc fae3bedd-75e3-4f2a-86fa-c7e2c4dd4880 g.chr12:55615114_55615116delCTT ENST00000326258.1 + 1 306_308 c.306_308delCTT c.(304-309)tac>ta p.YF102del NM_001005280.1 NP_001005280.1 Q8NGE5 O10A7_HUMAN olfactory receptor, family 10, subfamily A, member 7 102 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity endometrium(3)|kidney(1)|lung(11)|ovary(4)|prostate(2)|skin(3) 24 CCCAGATGTACTTCTTCTTCTTC 0.414 7 1296 --- --- --- --- OR6C75 390323 broad.mit.edu 37 12 55759486 55759486 + Frame_Shift_Del DEL T T - TCGA-IB-7647-01A-11D-2154-08 TCGA-IB-7647-10A-01D-2154-08 Untested Somatic Phase_I WXS none Illumina GAIIx d2579415-7e40-48ba-a59c-e5543b8097dc fae3bedd-75e3-4f2a-86fa-c7e2c4dd4880 g.chr12:55759486delT ENST00000343399.3 + 1 592 c.592delT c.(592-594)ttfs p.F199fs NM_001005497.1 NP_001005497.1 A6NL08 O6C75_HUMAN olfactory receptor, family 6, subfamily C, member 75 199 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity p.L200fs*1(1) endometrium(2)|large_intestine(5)|lung(11)|ovary(3)|skin(2)|upper_aerodigestive_tract(2) 25 ACTCATGGCATTTTTTTTAGC 0.393 14 715 --- --- --- --- CEP290 80184 broad.mit.edu 37 12 88524078 88524079 + Frame_Shift_Ins INS - - T TCGA-IB-7647-01A-11D-2154-08 TCGA-IB-7647-10A-01D-2154-08 Untested Somatic Phase_I WXS none Illumina GAIIx d2579415-7e40-48ba-a59c-e5543b8097dc fae3bedd-75e3-4f2a-86fa-c7e2c4dd4880 g.chr12:88524078_88524079insT ENST00000552810.1 - 9 978_979 c.635_636insA c.(634-636)atafs p.I212fs CEP290_ENST00000309041.7_Frame_Shift_Ins_p.I212fs NM_025114.3 NP_079390.3 O15078 CE290_HUMAN centrosomal protein 290kDa 212 cilium assembly|eye photoreceptor cell development|G2/M transition of mitotic cell cycle|hindbrain development|otic vesicle formation|positive regulation of transcription, DNA-dependent|pronephros development|protein transport cell surface|centrosome|cytosol|nucleus|photoreceptor connecting cilium protein binding breast(4)|central_nervous_system(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(20)|liver(1)|lung(18)|ovary(5)|pancreas(1)|prostate(2)|stomach(1)|upper_aerodigestive_tract(1) 73 TAAGCTCATAGTTTTTTTTAGA 0.317 7 895 --- --- --- --- SYCP3 50511 broad.mit.edu 37 12 102122901 102122901 + Frame_Shift_Del DEL T T - TCGA-IB-7647-01A-11D-2154-08 TCGA-IB-7647-10A-01D-2154-08 Untested Somatic Phase_I WXS none Illumina GAIIx d2579415-7e40-48ba-a59c-e5543b8097dc fae3bedd-75e3-4f2a-86fa-c7e2c4dd4880 g.chr12:102122901delT ENST00000392927.3 - 8 774 c.643delA c.(643-645)ttfs p.I215fs SYCP3_ENST00000392924.1_Frame_Shift_Del_p.I215fs|SYCP3_ENST00000266743.2_Frame_Shift_Del_p.I215fs NM_001177948.1|NM_001177949.1|NM_153694.4 NP_001171419.1|NP_001171420.1|NP_710161.1 Q8IZU3 SYCP3_HUMAN synaptonemal complex protein 3 215 Gln-rich. cell division|male meiosis I|spermatogenesis, exchange of chromosomal proteins nucleus DNA binding endometrium(2)|kidney(2)|large_intestine(1)|lung(5)|skin(1) 11 TCCATCATAATTTTTTTTTGC 0.259 9 272 --- --- --- --- EP400 57634 broad.mit.edu 37 12 132547093 132547094 + In_Frame_Ins INS - - CAG rs113304321 by1000genomes TCGA-IB-7647-01A-11D-2154-08 TCGA-IB-7647-10A-01D-2154-08 Untested Somatic Phase_I WXS none Illumina GAIIx d2579415-7e40-48ba-a59c-e5543b8097dc fae3bedd-75e3-4f2a-86fa-c7e2c4dd4880 g.chr12:132547093_132547094insCAG ENST00000333577.4 + 48 8398_8399 c.8289_8290insCAG c.(8287-8292)caagca>caCAGagca p.2763_2763Q>HR EP400_ENST00000389561.2_In_Frame_Ins_p.2727_2727Q>HR|EP400_ENST00000389562.2_In_Frame_Ins_p.2726_2726Q>HR|EP400_ENST00000332482.4_In_Frame_Ins_p.2690_2690Q>HR|EP400_ENST00000330386.6_In_Frame_Ins_p.2646_2646Q>HR 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) agcagcaacaacagcagcagca 0.564 11 351 --- --- --- --- WASF3 10810 broad.mit.edu 37 13 27250862 27250863 + Splice_Site DEL GT GT - TCGA-IB-7647-01A-11D-2154-08 TCGA-IB-7647-10A-01D-2154-08 Untested Somatic Phase_I WXS none Illumina GAIIx d2579415-7e40-48ba-a59c-e5543b8097dc fae3bedd-75e3-4f2a-86fa-c7e2c4dd4880 g.chr13:27250862_27250863delGT ENST00000335327.5 + 7 894 c.e7+1 WASF3_ENST00000361042.4_Intron NM_006646.5 NP_006637.2 Q9UPY6 WASF3_HUMAN WAS protein family, member 3 actin filament polymerization cytoplasm|cytoskeleton actin binding breast(2)|endometrium(3)|kidney(2)|large_intestine(4)|lung(6)|pancreas(1)|prostate(2)|skin(2) 22 Colorectal(5;0.000247) Lung SC(185;0.0156)|Breast(139;0.147) all cancers(112;0.0114)|Epithelial(112;0.046)|OV - Ovarian serous cystadenocarcinoma(117;0.0547)|Lung(94;0.105)|LUSC - Lung squamous cell carcinoma(192;0.155) CAGATACTAGGTGTGTGTGTGT 0.475 7 367 --- --- --- --- EEF1DP3 0 broad.mit.edu 37 13 32527507 32527508 + RNA DEL GT GT - TCGA-IB-7647-01A-11D-2154-08 TCGA-IB-7647-10A-01D-2154-08 Untested Somatic Phase_I WXS none Illumina GAIIx d2579415-7e40-48ba-a59c-e5543b8097dc fae3bedd-75e3-4f2a-86fa-c7e2c4dd4880 g.chr13:32527507_32527508delGT ENST00000428783.1 + 0 1207_1208 TCTGGCCTGAGTGTGTGTGTGT 0.460 11 376 --- --- --- --- RFC3 5983 broad.mit.edu 37 13 34398062 34398063 + Frame_Shift_Ins INS - - A TCGA-IB-7647-01A-11D-2154-08 TCGA-IB-7647-10A-01D-2154-08 Untested Somatic Phase_I WXS none Illumina GAIIx d2579415-7e40-48ba-a59c-e5543b8097dc fae3bedd-75e3-4f2a-86fa-c7e2c4dd4880 g.chr13:34398062_34398063insA ENST00000380071.3 + 3 364_365 c.234_235insA c.(232-237)tcaaaafs p.SK78fs RFC3_ENST00000434425.1_Frame_Shift_Ins_p.SK78fs NM_002915.3 NP_002906.1 P40938 RFC3_HUMAN replication factor C (activator 1) 3, 38kDa 78 cell cycle checkpoint|DNA strand elongation involved in DNA replication|DNA synthesis involved in DNA repair|nucleotide-excision repair, DNA gap filling|response to organophosphorus|S phase of mitotic cell cycle|telomere maintenance via recombination|telomere maintenance via semi-conservative replication|transcription-coupled nucleotide-excision repair DNA replication factor C complex|nucleoplasm ATP binding|DNA clamp loader activity|protein binding lung(2)|skin(1) 3 Hepatocellular(188;0.0191)|Lung SC(185;0.0548) all cancers(112;5.09e-06)|Epithelial(112;6.52e-05)|BRCA - Breast invasive adenocarcinoma(63;0.00107)|OV - Ovarian serous cystadenocarcinoma(117;0.0285)|GBM - Glioblastoma multiforme(144;0.123) AGACTCCATCTAAAAAAAAAAT 0.267 7 113 --- --- --- --- KIAA1704 0 broad.mit.edu 37 13 45580365 45580367 + In_Frame_Del DEL GAT GAT - rs138421508 TCGA-IB-7647-01A-11D-2154-08 TCGA-IB-7647-10A-01D-2154-08 Untested Somatic Phase_I WXS none Illumina GAIIx d2579415-7e40-48ba-a59c-e5543b8097dc fae3bedd-75e3-4f2a-86fa-c7e2c4dd4880 g.chr13:45580365_45580367delGAT ENST00000361121.2 + 3 285_287 c.250_252delGAT c.(250-252)del p.D88del KIAA1704_ENST00000357537.3_De_novo_Start_InFrame|KIAA1704_ENST00000379151.4_In_Frame_Del_p.D88del|RP11-321C24.1_ENST00000437748.2_lincRNA Q8IXQ4 K1704_HUMAN 88 Poly-Asp. breast(1)|endometrium(1)|kidney(2)|large_intestine(3)|lung(1)|pancreas(1)|prostate(2)|skin(1) 12 Lung NSC(96;0.00143)|Prostate(109;0.0137)|Breast(139;0.0192)|Lung SC(185;0.0367)|Hepatocellular(98;0.133) KIRC - Kidney renal clear cell carcinoma(16;0.234) GBM - Glioblastoma multiforme(144;0.000313)|BRCA - Breast invasive adenocarcinoma(63;0.126) Ggatgatgacgatgatgatgatg 0.335 12 1582 --- --- --- --- ADAM21 8747 broad.mit.edu 37 14 70924869 70924871 + In_Frame_Del DEL ATG ATG - rs141326765 TCGA-IB-7647-01A-11D-2154-08 TCGA-IB-7647-10A-01D-2154-08 Untested Somatic Phase_I WXS none Illumina GAIIx d2579415-7e40-48ba-a59c-e5543b8097dc fae3bedd-75e3-4f2a-86fa-c7e2c4dd4880 g.chr14:70924869_70924871delATG ENST00000603540.1 + 2 911_913 c.653_655delATG c.(652-657)cat>c p.HD218del ADAM21_ENST00000267499.3_In_Frame_Del_p.HD218del|RP11-486O13.4_ENST00000556646.1_lincRNA NM_003813.3 NP_003804.2 Q9UKJ8 ADA21_HUMAN ADAM metallopeptidase domain 21 218 Peptidase M12B. proteolysis|single fertilization integral to membrane metalloendopeptidase activity|zinc ion binding central_nervous_system(1)|endometrium(1)|kidney(4)|large_intestine(10)|lung(10)|pancreas(1)|prostate(1)|skin(2)|stomach(1) 31 all cancers(60;0.00326)|BRCA - Breast invasive adenocarcinoma(234;0.00646)|OV - Ovarian serous cystadenocarcinoma(108;0.0401) GTGGTGAACCATGATTTCTTCAT 0.414 8 539 --- --- --- --- RBM25 58517 broad.mit.edu 37 14 73572607 73572608 + Frame_Shift_Del DEL AG AG - TCGA-IB-7647-01A-11D-2154-08 TCGA-IB-7647-10A-01D-2154-08 Untested Somatic Phase_I WXS none Illumina GAIIx d2579415-7e40-48ba-a59c-e5543b8097dc fae3bedd-75e3-4f2a-86fa-c7e2c4dd4880 g.chr14:73572607_73572608delAG ENST00000261973.7 + 11 1480_1481 c.1195_1196delAG c.(1195-1197)afs p.R399fs RBM25_ENST00000527432.1_Frame_Shift_Del_p.R399fs NM_021239.2 NP_067062.1 P49756 RBM25_HUMAN RNA binding motif protein 25 399 Arg-rich.|Glu-rich.|Necessary for nuclear speckle localization. apoptosis|mRNA processing|regulation of alternative nuclear mRNA splicing, via spliceosome|RNA splicing cytoplasm|nuclear speck mRNA binding|nucleotide binding|protein binding breast(2)|central_nervous_system(2)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(7)|lung(6)|ovary(2)|pancreas(1) 31 BRCA - Breast invasive adenocarcinoma(234;0.00362)|OV - Ovarian serous cystadenocarcinoma(108;0.0688) agagcgggaaagagagagagag 0.446 16 192 --- --- --- --- BTBD7 55727 broad.mit.edu 37 14 93712186 93712188 + In_Frame_Del DEL TGC TGC - TCGA-IB-7647-01A-11D-2154-08 TCGA-IB-7647-10A-01D-2154-08 Untested Somatic Phase_I WXS none Illumina GAIIx d2579415-7e40-48ba-a59c-e5543b8097dc fae3bedd-75e3-4f2a-86fa-c7e2c4dd4880 g.chr14:93712186_93712188delTGC ENST00000334746.5 - 10 2873_2875 c.2566_2568delGCA c.(2566-2568)del p.A856del BTBD7_ENST00000393170.2_In_Frame_Del_p.A430del|BTBD7_ENST00000554565.1_In_Frame_Del_p.A505del NM_001002860.2 NP_001002860.2 Q9P203 BTBD7_HUMAN BTB (POZ) domain containing 7 856 Poly-Ala. breast(1)|endometrium(3)|kidney(3)|large_intestine(9)|lung(8)|ovary(1)|pancreas(1)|skin(8)|upper_aerodigestive_tract(1) 35 all_cancers(154;0.08) Epithelial(152;0.196)|COAD - Colon adenocarcinoma(157;0.212)|all cancers(159;0.223) GCTTCTCAGAtgctgctgctgct 0.537 9 262 --- --- --- --- DDX24 57062 broad.mit.edu 37 14 94545821 94545823 + In_Frame_Del DEL CCT CCT - TCGA-IB-7647-01A-11D-2154-08 TCGA-IB-7647-10A-01D-2154-08 Untested Somatic Phase_I WXS none Illumina GAIIx d2579415-7e40-48ba-a59c-e5543b8097dc fae3bedd-75e3-4f2a-86fa-c7e2c4dd4880 g.chr14:94545821_94545823delCCT ENST00000330836.5 - 2 397_399 c.266_268delAGG c.(265-270)gga>g p.EG89del DDX24_ENST00000544005.1_Intron|DDX24_ENST00000555054.1_In_Frame_Del_p.EG46del 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 7 875 --- --- --- --- TRPM1 4308 broad.mit.edu 37 15 31342690 31342690 + Frame_Shift_Del DEL C C - TCGA-IB-7647-01A-11D-2154-08 TCGA-IB-7647-10A-01D-2154-08 Untested Somatic Phase_I WXS none Illumina GAIIx d2579415-7e40-48ba-a59c-e5543b8097dc fae3bedd-75e3-4f2a-86fa-c7e2c4dd4880 g.chr15:31342690delC ENST00000542188.1 - 11 1723 c.1410delG c.(1408-1410)ggfs p.G470fs TRPM1_ENST00000397795.2_Frame_Shift_Del_p.G431fs|TRPM1_ENST00000256552.6_Frame_Shift_Del_p.G453fs NM_001252020.1 NP_001238949.1 Q7Z4N2 TRPM1_HUMAN transient receptor potential cation channel, subfamily M, member 1 431 cellular response to light stimulus|visual perception integral to plasma membrane calcium channel activity|receptor activity NS(2)|breast(3)|central_nervous_system(3)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(15)|lung(48)|ovary(2)|pancreas(1)|prostate(3)|skin(2)|soft_tissue(1)|upper_aerodigestive_tract(3) 99 all_lung(180;1.92e-11) all cancers(64;3.52e-16)|Epithelial(43;1.65e-11)|GBM - Glioblastoma multiforme(186;3.57e-05)|BRCA - Breast invasive adenocarcinoma(123;0.00533)|COAD - Colon adenocarcinoma(236;0.0609)|Lung(196;0.199) tcttgcctttcccttttcctc 0.557 19 256 --- --- --- --- SRP14 6727 broad.mit.edu 37 15 40328597 40328599 + In_Frame_Del DEL TGC TGC - TCGA-IB-7647-01A-11D-2154-08 TCGA-IB-7647-10A-01D-2154-08 Untested Somatic Phase_I WXS none Illumina GAIIx d2579415-7e40-48ba-a59c-e5543b8097dc fae3bedd-75e3-4f2a-86fa-c7e2c4dd4880 g.chr15:40328597_40328599delTGC ENST00000267884.6 - 5 417_419 c.346_348delGCA c.(346-348)del p.A116del SRP14_ENST00000558720.1_In_Frame_Del_p.A36del|SRP14_ENST00000560773.1_In_Frame_Del_p.A36del|SRP14_ENST00000558527.1_5'UTR NM_003134.4 NP_003125.3 P37108 SRP14_HUMAN signal recognition particle 14kDa (homologous Alu RNA binding protein) 116 Ala/Thr-rich. negative regulation of translational elongation|response to drug|SRP-dependent cotranslational protein targeting to membrane cytosol|signal recognition particle, endoplasmic reticulum targeting 7S RNA binding|endoplasmic reticulum signal peptide binding|protein binding endometrium(1)|skin(1)|upper_aerodigestive_tract(1) 3 all_cancers(109;7.56e-18)|all_epithelial(112;4.02e-15)|Lung NSC(122;5.63e-11)|all_lung(180;1.4e-09)|Melanoma(134;0.0574)|Ovarian(310;0.0822)|Colorectal(260;0.117) GBM - Glioblastoma multiforme(113;1.84e-07)|BRCA - Breast invasive adenocarcinoma(123;0.0505) ctgcggcaggtgctgctgctgct 0.478 10 496 --- --- --- --- ZNF106 64397 broad.mit.edu 37 15 42742957 42742957 + Frame_Shift_Del DEL A A - TCGA-IB-7647-01A-11D-2154-08 TCGA-IB-7647-10A-01D-2154-08 Untested Somatic Phase_I WXS none Illumina GAIIx d2579415-7e40-48ba-a59c-e5543b8097dc fae3bedd-75e3-4f2a-86fa-c7e2c4dd4880 g.chr15:42742957delA ENST00000263805.4 - 2 1770 c.1444delT c.(1444-1446)ccfs p.S482fs ZNF106_ENST00000565380.1_Intron|ZNF106_ENST00000565611.1_Intron NM_022473.1 NP_071918.1 zinc finger protein 106 TCTCCAGGGGAAAAAAAATTT 0.393 8 1413 --- --- --- --- MAPK6 5597 broad.mit.edu 37 15 52356718 52356719 + Frame_Shift_Del DEL AA AA - TCGA-IB-7647-01A-11D-2154-08 TCGA-IB-7647-10A-01D-2154-08 Untested Somatic Phase_I WXS none Illumina GAIIx d2579415-7e40-48ba-a59c-e5543b8097dc fae3bedd-75e3-4f2a-86fa-c7e2c4dd4880 g.chr15:52356718_52356719delAA ENST00000261845.5 + 6 2494_2495 c.1687_1688delAA c.(1687-1689)afs p.K563fs CTD-2184D3.5_ENST00000558607.1_RNA NM_002748.3 NP_002739.1 Q16659 MK06_HUMAN mitogen-activated protein kinase 6 563 cell cycle ATP binding|MAP kinase activity breast(3)|endometrium(1)|kidney(3)|large_intestine(3)|lung(7)|ovary(1)|skin(2) 20 all cancers(107;0.0028) ACTAGAATTGAAAAGTTTGATA 0.391 8 254 --- --- --- --- ARID3B 10620 broad.mit.edu 37 15 74888025 74888027 + In_Frame_Del DEL CAG CAG - rs141710149 TCGA-IB-7647-01A-11D-2154-08 TCGA-IB-7647-10A-01D-2154-08 Untested Somatic Phase_I WXS none Illumina GAIIx d2579415-7e40-48ba-a59c-e5543b8097dc fae3bedd-75e3-4f2a-86fa-c7e2c4dd4880 g.chr15:74888025_74888027delCAG ENST00000346246.5 + 9 1824_1826 c.1593_1595delCAG c.(1591-1596)gcc>gc p.AS531del NM_006465.2 NP_006456.1 Q8IVW6 ARI3B_HUMAN AT rich interactive domain 3B (BRIGHT-like) 532 Ser-rich. regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding NS(1)|breast(1)|endometrium(1)|large_intestine(2)|lung(7)|prostate(2) 14 gcagcagcgccagcagcagcagc 0.640 7 218 --- --- --- --- IL32 9235 broad.mit.edu 37 16 3119304 3119305 + Frame_Shift_Ins INS - - G rs2981599 TCGA-IB-7647-01A-11D-2154-08 TCGA-IB-7647-10A-01D-2154-08 Untested Somatic Phase_I WXS none Illumina GAIIx d2579415-7e40-48ba-a59c-e5543b8097dc fae3bedd-75e3-4f2a-86fa-c7e2c4dd4880 g.chr16:3119304_3119305insG ENST00000525643.2 + 7 847_848 c.515_516insG c.(514-516)gaafs p.E172fs IL32_ENST00000548246.1_Frame_Shift_Ins_p.E132fs|IL32_ENST00000530890.1_Frame_Shift_Ins_p.E152fs|IL32_ENST00000548476.1_Frame_Shift_Ins_p.E218fs|IL32_ENST00000529699.1_Frame_Shift_Ins_p.E152fs|IL32_ENST00000530538.2_Frame_Shift_Ins_p.E172fs|IL32_ENST00000526464.2_Frame_Shift_Ins_p.E172fs|IL32_ENST00000440815.3_Frame_Shift_Ins_p.E172fs|IL32_ENST00000529550.1_Frame_Shift_Ins_p.E172fs|IL32_ENST00000325568.5_Frame_Shift_Ins_p.E172fs|IL32_ENST00000551122.1_Frame_Shift_Ins_p.E115fs|IL32_ENST00000552936.1_Frame_Shift_Ins_p.E196fs|IL32_ENST00000534507.1_Frame_Shift_Ins_p.E218fs|IL32_ENST00000552664.1_Frame_Shift_Ins_p.E172fs|IL32_ENST00000008180.9_Frame_Shift_Ins_p.E152fs|IL32_ENST00000548652.1_Frame_Shift_Ins_p.E163fs|IL32_ENST00000528163.2_Frame_Shift_Ins_p.E172fs|IL32_ENST00000396887.3_Frame_Shift_Ins_p.E115fs|IL32_ENST00000444393.3_Frame_Shift_Ins_p.E172fs|IL32_ENST00000531965.1_Frame_Shift_Ins_p.E162fs|IL32_ENST00000533097.2_Frame_Shift_Ins_p.E172fs|IL32_ENST00000552356.1_Frame_Shift_Ins_p.E152fs|IL32_ENST00000396890.2_Frame_Shift_Ins_p.E218fs|IL32_ENST00000551513.1_Frame_Shift_Ins_p.E209fs|IL32_ENST00000382213.3_Frame_Shift_Ins_p.E163fs|IL32_ENST00000549213.1_Frame_Shift_Ins_p.E115fs P24001 IL32_HUMAN interleukin 32 218 cell adhesion|defense response|immune response extracellular space cytokine activity breast(1)|endometrium(1)|large_intestine(3)|lung(6)|ovary(1)|pancreas(1)|skin(1)|urinary_tract(1) 15 CCACGGGGGGACAAGGAGGAGC 0.574 54 1278 --- --- --- --- SLX4 84464 broad.mit.edu 37 16 3647657 3647657 + Frame_Shift_Del DEL G G - TCGA-IB-7647-01A-11D-2154-08 TCGA-IB-7647-10A-01D-2154-08 Untested Somatic Phase_I WXS none Illumina GAIIx d2579415-7e40-48ba-a59c-e5543b8097dc fae3bedd-75e3-4f2a-86fa-c7e2c4dd4880 g.chr16:3647657delG ENST00000294008.3 - 7 2046 c.1406delC c.(1405-1407)cafs p.P469fs NM_032444.2 NP_115820.2 Q8IY92 SLX4_HUMAN SLX4 structure-specific endonuclease subunit 469 Interaction with C20orf94, ERCC4 and MSH2. DNA double-strand break processing involved in repair via single-strand annealing|double-strand break repair via homologous recombination|nucleotide-excision repair Slx1-Slx4 complex enzyme activator activity|protein binding breast(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(18)|lung(20)|ovary(3)|pancreas(1)|prostate(7)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1) 76 TAACAACAATGGGGGGGATAC 0.547 Direct reversal of damage 7 708 --- --- --- --- PDILT 204474 broad.mit.edu 37 16 20370700 20370702 + In_Frame_Del DEL CCA CCA - TCGA-IB-7647-01A-11D-2154-08 TCGA-IB-7647-10A-01D-2154-08 Untested Somatic Phase_I WXS none Illumina GAIIx d2579415-7e40-48ba-a59c-e5543b8097dc fae3bedd-75e3-4f2a-86fa-c7e2c4dd4880 g.chr16:20370700_20370702delCCA ENST00000302451.4 - 12 1942_1944 c.1694_1696delTGG c.(1693-1698)gct>g p.VA565del NM_174924.1 NP_777584.1 Q8N807 PDILT_HUMAN protein disulfide isomerase-like, testis expressed 565 cell differentiation|cell redox homeostasis|multicellular organismal development|spermatogenesis endoplasmic reticulum isomerase activity breast(2)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(13)|liver(1)|lung(33)|prostate(3)|skin(1)|urinary_tract(1) 61 TTTGGCTTAGCCACCACCACCAC 0.478 12 1173 --- --- --- --- SETD1A 9739 broad.mit.edu 37 16 30982809 30982811 + In_Frame_Del DEL TCC TCC - TCGA-IB-7647-01A-11D-2154-08 TCGA-IB-7647-10A-01D-2154-08 Untested Somatic Phase_I WXS none Illumina GAIIx d2579415-7e40-48ba-a59c-e5543b8097dc fae3bedd-75e3-4f2a-86fa-c7e2c4dd4880 g.chr16:30982809_30982811delTCC ENST00000262519.8 + 13 3813_3815 c.3127_3129delTCC c.(3127-3129)del p.S1058del NM_014712.1 NP_055527.1 O15047 SET1A_HUMAN SET domain containing 1A 1058 Ser-rich. regulation of transcription, DNA-dependent|transcription, DNA-dependent chromosome|nuclear speck|Set1C/COMPASS complex histone-lysine N-methyltransferase activity|nucleotide binding|protein binding|RNA binding NS(2)|breast(2)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(9)|lung(21)|ovary(3)|prostate(2)|skin(4)|upper_aerodigestive_tract(4)|urinary_tract(1) 59 CAGctcctcatcctcctcctcct 0.547 9 516 --- --- --- --- HERC2P4 0 broad.mit.edu 37 16 32182872 32182873 + RNA INS - - AG TCGA-IB-7647-01A-11D-2154-08 TCGA-IB-7647-10A-01D-2154-08 Untested Somatic Phase_I WXS none Illumina GAIIx d2579415-7e40-48ba-a59c-e5543b8097dc fae3bedd-75e3-4f2a-86fa-c7e2c4dd4880 g.chr16:32182872_32182873insAG ENST00000564730.1 - 0 15_16 TCTGTGGGAGCAGTCGCGATTT 0.559 7 434 --- --- --- --- FXR2 9513 broad.mit.edu 37 17 7496121 7496122 + Frame_Shift_Ins INS - - G TCGA-IB-7647-01A-11D-2154-08 TCGA-IB-7647-10A-01D-2154-08 Untested Somatic Phase_I WXS none Illumina GAIIx d2579415-7e40-48ba-a59c-e5543b8097dc fae3bedd-75e3-4f2a-86fa-c7e2c4dd4880 g.chr17:7496121_7496122insG ENST00000250113.7 - 14 1953_1954 c.1619_1620insC c.(1618-1620)cgcfs p.R540fs NM_004860.3 NP_004851.2 P51116 FXR2_HUMAN fragile X mental retardation, autosomal homolog 2 540 cytosolic large ribosomal subunit protein binding|RNA binding p.P540fs*32(1)|p.A541fs*14(1) NS(1)|breast(2)|endometrium(6)|kidney(1)|large_intestine(7)|lung(8)|prostate(1) 26 READ - Rectum adenocarcinoma(115;0.17) TGGCACTTGCTGGGGGGGGTTC 0.609 7 271 --- --- --- --- MED9 55090 broad.mit.edu 37 17 17394705 17394707 + In_Frame_Del DEL CAG CAG - TCGA-IB-7647-01A-11D-2154-08 TCGA-IB-7647-10A-01D-2154-08 Untested Somatic Phase_I WXS none Illumina GAIIx d2579415-7e40-48ba-a59c-e5543b8097dc fae3bedd-75e3-4f2a-86fa-c7e2c4dd4880 g.chr17:17394705_17394707delCAG ENST00000268711.3 + 2 393_395 c.337_339delCAG c.(337-339)del p.Q117del NM_018019.2 NP_060489.1 Q9NWA0 MED9_HUMAN mediator complex subunit 9 117 regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent protein binding cervix(1)|endometrium(1)|large_intestine(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 7 GAGCCCCGAACAGCAGCAGCAGC 0.581 7 543 --- --- --- --- RP1-37N7.4 0 broad.mit.edu 37 17 18345954 18345955 + RNA DEL CA CA - TCGA-IB-7647-01A-11D-2154-08 TCGA-IB-7647-10A-01D-2154-08 Untested Somatic Phase_I WXS none Illumina GAIIx d2579415-7e40-48ba-a59c-e5543b8097dc fae3bedd-75e3-4f2a-86fa-c7e2c4dd4880 g.chr17:18345954_18345955delCA ENST00000580052.1 + 0 43 TTCTCTCTCCCACAGTCTTCAC 0.614 4 9 --- --- --- --- KIAA0100 9703 broad.mit.edu 37 17 26966334 26966334 + Splice_Site DEL T T - TCGA-IB-7647-01A-11D-2154-08 TCGA-IB-7647-10A-01D-2154-08 Untested Somatic Phase_I WXS none Illumina GAIIx d2579415-7e40-48ba-a59c-e5543b8097dc fae3bedd-75e3-4f2a-86fa-c7e2c4dd4880 g.chr17:26966334delT ENST00000528896.2 - 11 1302 c.1229_splice c.e11+1 p.R410_splice KIAA0100_ENST00000389003.3_Splice_Site_p.R267_splice|KIAA0100_ENST00000544884.1_Splice_Site_p.R267_splice NM_014680.3 NP_055495.2 Q14667 K0100_HUMAN KIAA0100 410 extracellular region breast(3)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(13)|lung(23)|ovary(2)|prostate(2)|skin(6)|stomach(2)|urinary_tract(3) 68 Lung NSC(42;0.00431) CAGACTGACCTTTTTTTCCTT 0.438 8 553 --- --- --- --- SUPT6H 6830 broad.mit.edu 37 17 27027202 27027204 + In_Frame_Del DEL AGC AGC - TCGA-IB-7647-01A-11D-2154-08 TCGA-IB-7647-10A-01D-2154-08 Untested Somatic Phase_I WXS none Illumina GAIIx d2579415-7e40-48ba-a59c-e5543b8097dc fae3bedd-75e3-4f2a-86fa-c7e2c4dd4880 g.chr17:27027202_27027204delAGC ENST00000314616.6 + 34 4856_4858 c.4573_4575delAGC c.(4573-4575)del p.S1528del SUPT6H_ENST00000347486.4_In_Frame_Del_p.S1528del NM_003170.3 NP_003161.2 Q7KZ85 SPT6H_HUMAN suppressor of Ty 6 homolog (S. cerevisiae) 1528 Poly-Ser. chromatin remodeling|regulation of transcription elongation, DNA-dependent|regulation of transcription from RNA polymerase II promoter nucleus hydrolase activity, acting on ester bonds|RNA binding|sequence-specific DNA binding transcription factor activity NS(4)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(9)|kidney(2)|large_intestine(15)|lung(21)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1) 64 Lung NSC(42;0.00431) CATCACCCCTAGCAGCAGCAGCA 0.537 12 1425 --- --- --- --- NUFIP2 57532 broad.mit.edu 37 17 27620990 27620992 + In_Frame_Del DEL GCT GCT - TCGA-IB-7647-01A-11D-2154-08 TCGA-IB-7647-10A-01D-2154-08 Untested Somatic Phase_I WXS none Illumina GAIIx d2579415-7e40-48ba-a59c-e5543b8097dc fae3bedd-75e3-4f2a-86fa-c7e2c4dd4880 g.chr17:27620990_27620992delGCT ENST00000225388.4 - 1 144_146 c.86_88delAGC c.(85-90)ccg>c p.QP29del NUFIP2_ENST00000579665.1_In_Frame_Del_p.QP29del NM_020772.2 NP_065823.1 Q7Z417 NUFP2_HUMAN nuclear fragile X mental retardation protein interacting protein 2 29 His-rich. nucleus|polysomal ribosome protein binding|RNA binding breast(1)|endometrium(3)|kidney(1)|large_intestine(3)|liver(1)|lung(7)|ovary(1)|prostate(2)|skin(4)|urinary_tract(1) 24 BRCA - Breast invasive adenocarcinoma(11;0.000457)|Colorectal(6;0.0178)|COAD - Colon adenocarcinoma(6;0.0551) tggtggtgcggctgctgctgctg 0.591 10 401 --- --- --- --- PLCD3 113026 broad.mit.edu 37 17 43192760 43192762 + In_Frame_Del DEL TCC TCC - TCGA-IB-7647-01A-11D-2154-08 TCGA-IB-7647-10A-01D-2154-08 Untested Somatic Phase_I WXS none Illumina GAIIx d2579415-7e40-48ba-a59c-e5543b8097dc fae3bedd-75e3-4f2a-86fa-c7e2c4dd4880 g.chr17:43192760_43192762delTCC ENST00000322765.5 - 9 1622_1624 c.1509_1511delGGA c.(1507-1512)gat>ga p.ED503del PLCD3_ENST00000540511.1_5'UTR NM_133373.3 NP_588614.1 Q8N3E9 PLCD3_HUMAN phospholipase C, delta 3 503 intracellular signal transduction|lipid catabolic process cleavage furrow|cytoplasm|membrane calcium ion binding|phosphatidylinositol phospholipase C activity|signal transducer activity p.E503D(2) breast(2)|endometrium(2)|large_intestine(3)|lung(5)|prostate(1)|stomach(2)|urinary_tract(2) 17 Phosphatidylserine(DB00144) ctcctcgtcatcctcctcctcct 0.670 7 65 --- --- --- --- COIL 8161 broad.mit.edu 37 17 55028016 55028016 + Frame_Shift_Del DEL T T - TCGA-IB-7647-01A-11D-2154-08 TCGA-IB-7647-10A-01D-2154-08 Untested Somatic Phase_I WXS none Illumina GAIIx d2579415-7e40-48ba-a59c-e5543b8097dc fae3bedd-75e3-4f2a-86fa-c7e2c4dd4880 g.chr17:55028016delT ENST00000240316.4 - 2 621 c.587delA c.(586-588)agfs p.K196fs NM_004645.2 NP_004636.1 P38432 COIL_HUMAN coilin 196 Lys-rich (basic). Cajal body|nucleolus protein C-terminus binding NS(1)|endometrium(4)|kidney(1)|large_intestine(1)|lung(4)|ovary(1)|prostate(2)|urinary_tract(1) 15 Breast(9;6.15e-08) ATTCTTAGCCTTTTTTTTATA 0.393 7 778 --- --- --- --- RP11-178C3.2 0 broad.mit.edu 37 17 58050857 58050857 + RNA DEL G G - TCGA-IB-7647-01A-11D-2154-08 TCGA-IB-7647-10A-01D-2154-08 Untested Somatic Phase_I WXS none Illumina GAIIx d2579415-7e40-48ba-a59c-e5543b8097dc fae3bedd-75e3-4f2a-86fa-c7e2c4dd4880 g.chr17:58050857delG ENST00000586209.1 + 0 158 TTTTTTTTTTGGCAGTTTTTA 0.423 9 96 --- --- --- --- SEH1L 81929 broad.mit.edu 37 18 12986927 12986929 + In_Frame_Del DEL TCC TCC - TCGA-IB-7647-01A-11D-2154-08 TCGA-IB-7647-10A-01D-2154-08 Untested Somatic Phase_I WXS none Illumina GAIIx d2579415-7e40-48ba-a59c-e5543b8097dc fae3bedd-75e3-4f2a-86fa-c7e2c4dd4880 g.chr18:12986927_12986929delTCC ENST00000399892.2 + 9 1238_1240 c.1137_1139delTCC c.(1135-1140)ctt>ct p.LP379del SEH1L_ENST00000262124.11_3'UTR|RP11-773H22.4_ENST00000588211.1_RNA NM_001013437.1 NP_001013455.1 Q96EE3 SEH1_HUMAN SEH1-like (S. cerevisiae) 0 attachment of spindle microtubules to kinetochore involved in mitotic sister chromatid segregation|carbohydrate metabolic process|cell division|glucose transport|mitotic metaphase plate congression|mitotic prometaphase|mRNA transport|nuclear pore organization|protein transport|regulation of glucose transport|transmembrane transport|viral reproduction condensed chromosome kinetochore|cytosol|Nup107-160 complex central_nervous_system(1)|endometrium(1)|large_intestine(2)|lung(5)|pancreas(1)|prostate(1) 11 CCCAGCTCCTtcctcctcctcct 0.522 15 238 --- --- --- --- SUGP2 10147 broad.mit.edu 37 19 19136394 19136394 + Frame_Shift_Del DEL T T - TCGA-IB-7647-01A-11D-2154-08 TCGA-IB-7647-10A-01D-2154-08 Untested Somatic Phase_I WXS none Illumina GAIIx d2579415-7e40-48ba-a59c-e5543b8097dc fae3bedd-75e3-4f2a-86fa-c7e2c4dd4880 g.chr19:19136394delT ENST00000601879.1 - 3 1060 c.763delA c.(763-765)tafs p.I255fs SUGP2_ENST00000600377.1_Frame_Shift_Del_p.I269fs|SUGP2_ENST00000598202.1_5'UTR|SUGP2_ENST00000337018.6_Frame_Shift_Del_p.I255fs|SUGP2_ENST00000456085.2_Intron|SUGP2_ENST00000452918.2_Frame_Shift_Del_p.I255fs 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 ACGGTGGGTATTTTTTTTGTG 0.502 10 879 --- --- --- --- NUDT19 390916 broad.mit.edu 37 19 33200189 33200190 + Frame_Shift_Del DEL CT CT - TCGA-IB-7647-01A-11D-2154-08 TCGA-IB-7647-10A-01D-2154-08 Untested Somatic Phase_I WXS none Illumina GAIIx d2579415-7e40-48ba-a59c-e5543b8097dc fae3bedd-75e3-4f2a-86fa-c7e2c4dd4880 g.chr19:33200189_33200190delCT ENST00000397061.3 + 2 813_814 c.813_814delCT c.(811-816)gcctfs p.AS271fs NM_001105570.1 NP_001099040.1 A8MXV4 NUD19_HUMAN nudix (nucleoside diphosphate linked moiety X)-type motif 19 271 mitochondrion|peroxisome hydrolase activity|metal ion binding endometrium(1)|large_intestine(1)|lung(4)|ovary(1)|upper_aerodigestive_tract(1) 8 Esophageal squamous(110;0.137) CAAACTTTGCCTCTCTCTCTGA 0.450 9 1276 --- --- --- --- HAMP 57817 broad.mit.edu 37 19 35773520 35773522 + In_Frame_Del DEL CTC CTC - TCGA-IB-7647-01A-11D-2154-08 TCGA-IB-7647-10A-01D-2154-08 Untested Somatic Phase_I WXS none Illumina GAIIx d2579415-7e40-48ba-a59c-e5543b8097dc fae3bedd-75e3-4f2a-86fa-c7e2c4dd4880 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 14 974 --- --- --- --- C19orf55 148137 broad.mit.edu 37 19 36255947 36255949 + In_Frame_Del DEL CTC CTC - TCGA-IB-7647-01A-11D-2154-08 TCGA-IB-7647-10A-01D-2154-08 Untested Somatic Phase_I WXS none Illumina GAIIx d2579415-7e40-48ba-a59c-e5543b8097dc fae3bedd-75e3-4f2a-86fa-c7e2c4dd4880 g.chr19:36255947_36255949delCTC ENST00000544099.1 + 7 702_704 c.639_641delCTC c.(637-642)atc>at p.IS213del C19orf55_ENST00000396908.4_In_Frame_Del_p.IS213del Q2NL68 CS055_HUMAN chromosome 19 open reading frame 55 213 Ser-rich. cervix(1)|endometrium(3)|kidney(1)|large_intestine(4)|lung(3)|ovary(2)|prostate(1) 15 all_lung(56;2.87e-07)|Lung NSC(56;4.32e-07)|Esophageal squamous(110;0.162) LUSC - Lung squamous cell carcinoma(66;0.0515) AAGCCTCCATCTCCTCCTCCTCC 0.631 9 1046 --- --- --- --- SIPA1L3 23094 broad.mit.edu 37 19 38609985 38609985 + Frame_Shift_Del DEL C C - TCGA-IB-7647-01A-11D-2154-08 TCGA-IB-7647-10A-01D-2154-08 Untested Somatic Phase_I WXS none Illumina GAIIx d2579415-7e40-48ba-a59c-e5543b8097dc fae3bedd-75e3-4f2a-86fa-c7e2c4dd4880 g.chr19:38609985delC ENST00000222345.6 + 9 2840 c.2331delC c.(2329-2331)ggfs p.G777fs NM_015073.1 NP_055888.1 O60292 SI1L3_HUMAN signal-induced proliferation-associated 1 like 3 777 Rap-GAP. regulation of small GTPase mediated signal transduction intracellular GTPase activator activity NS(1)|breast(3)|central_nervous_system(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(8)|lung(22)|ovary(2)|prostate(4)|skin(3) 59 Lung(45;0.000246)|LUSC - Lung squamous cell carcinoma(53;0.000292) CTCCTTTCGGCCCCCCCATCC 0.537 7 525 --- --- --- --- RYR1 6261 broad.mit.edu 37 19 38948159 38948160 + Frame_Shift_Del DEL TG TG - TCGA-IB-7647-01A-11D-2154-08 TCGA-IB-7647-10A-01D-2154-08 Untested Somatic Phase_I WXS none Illumina GAIIx d2579415-7e40-48ba-a59c-e5543b8097dc fae3bedd-75e3-4f2a-86fa-c7e2c4dd4880 g.chr19:38948159_38948160delTG ENST00000355481.4 + 17 1945_1946 c.1814_1815delTG c.(1813-1815)cfs p.L605fs RYR1_ENST00000360985.3_Frame_Shift_Del_p.L605fs|RYR1_ENST00000359596.3_Frame_Shift_Del_p.L605fs NM_000540.2|NM_001042723.1 NP_000531.2|NP_001036188.1 P21817 RYR1_HUMAN ryanodine receptor 1 (skeletal) 605 B30.2/SPRY 1. muscle contraction|release of sequestered calcium ion into cytosol|response to caffeine|response to hypoxia cell cortex|cytosol|I band|integral to plasma membrane|junctional sarcoplasmic reticulum membrane|smooth endoplasmic reticulum|terminal cisterna calcium ion binding|calmodulin binding|receptor activity|ryanodine-sensitive calcium-release channel activity NS(4)|autonomic_ganglia(2)|breast(3)|central_nervous_system(5)|endometrium(26)|haematopoietic_and_lymphoid_tissue(3)|kidney(34)|large_intestine(42)|liver(1)|lung(106)|ovary(11)|pancreas(5)|prostate(9)|skin(12)|stomach(11)|upper_aerodigestive_tract(4)|urinary_tract(7) 285 all_cancers(60;7.91e-06) Lung(45;0.00172)|LUSC - Lung squamous cell carcinoma(53;0.00272) Dantrolene(DB01219) CTATGCTCCCTGTGTGTGTGTA 0.530 8 1202 --- --- --- --- PRX 57716 broad.mit.edu 37 19 40900180 40900182 + In_Frame_Del DEL TCC TCC - TCGA-IB-7647-01A-11D-2154-08 TCGA-IB-7647-10A-01D-2154-08 Untested Somatic Phase_I WXS none Illumina GAIIx d2579415-7e40-48ba-a59c-e5543b8097dc fae3bedd-75e3-4f2a-86fa-c7e2c4dd4880 g.chr19:40900180_40900182delTCC ENST00000324001.7 - 7 4347_4349 c.4077_4079delGGA c.(4075-4080)gaa>ga p.EE1359del PRX_ENST00000291825.7_3'UTR NM_181882.2 NP_870998.2 Q9BXM0 PRAX_HUMAN periaxin 1359 Poly-Glu. Missing. 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) ACTGCcctcttcctcctcctcct 0.695 7 171 --- --- --- --- LYPD3 27076 broad.mit.edu 37 19 43969653 43969655 + In_Frame_Del DEL AGC AGC - rs141441894 byFrequency TCGA-IB-7647-01A-11D-2154-08 TCGA-IB-7647-10A-01D-2154-08 Untested Somatic Phase_I WXS none Illumina GAIIx d2579415-7e40-48ba-a59c-e5543b8097dc fae3bedd-75e3-4f2a-86fa-c7e2c4dd4880 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 18 893 --- --- --- --- RSPH6A 81492 broad.mit.edu 37 19 46299165 46299167 + In_Frame_Del DEL CCT CCT - rs62639328 byFrequency TCGA-IB-7647-01A-11D-2154-08 TCGA-IB-7647-10A-01D-2154-08 Untested Somatic Phase_I WXS none Illumina GAIIx d2579415-7e40-48ba-a59c-e5543b8097dc fae3bedd-75e3-4f2a-86fa-c7e2c4dd4880 g.chr19:46299165_46299167delCCT ENST00000221538.3 - 6 2256_2258 c.2114_2116delAGG c.(2113-2118)ggc>g p.EG705del RSPH6A_ENST00000600188.1_In_Frame_Del_p.EG441del|RSPH6A_ENST00000597055.1_3'UTR NM_030785.3 NP_110412.1 Q9H0K4 RSH6A_HUMAN radial spoke head 6 homolog A (Chlamydomonas) 705 Glu-rich. intracellular central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(6)|liver(1)|lung(14)|ovary(2)|prostate(1)|skin(1)|urinary_tract(2) 32 tcctcctcgccctcctcctcctc 0.586 7 738 --- --- --- --- SLC8A2 6543 broad.mit.edu 37 19 47935681 47935683 + In_Frame_Del DEL TCC TCC - TCGA-IB-7647-01A-11D-2154-08 TCGA-IB-7647-10A-01D-2154-08 Untested Somatic Phase_I WXS none Illumina GAIIx d2579415-7e40-48ba-a59c-e5543b8097dc fae3bedd-75e3-4f2a-86fa-c7e2c4dd4880 g.chr19:47935681_47935683delTCC ENST00000236877.6 - 9 2525_2527 c.2130_2132delGGA c.(2128-2133)gac>ga p.ED710del SLC8A2_ENST00000542837.1_In_Frame_Del_p.ED466del|SLC8A2_ENST00000539381.1_In_Frame_Del_p.ED173del|SLC8A2_ENST00000601757.1_5'UTR NM_015063.2 NP_055878.1 Q9UPR5 NAC2_HUMAN solute carrier family 8 (sodium/calcium exchanger), member 2 710 cell communication|platelet activation integral to membrane|plasma membrane calcium:sodium antiporter activity|calmodulin binding breast(1)|endometrium(4)|kidney(2)|large_intestine(4)|lung(10)|ovary(2)|prostate(2)|skin(5)|stomach(1) 31 all_cancers(25;3.05e-07)|all_lung(116;4.19e-06)|Lung NSC(112;7.16e-06)|all_epithelial(76;7.65e-06)|all_neural(266;0.0652)|Ovarian(192;0.086)|Breast(70;0.173) OV - Ovarian serous cystadenocarcinoma(262;0.000501)|all cancers(93;0.00058)|Epithelial(262;0.0181)|GBM - Glioblastoma multiforme(486;0.0457) CCGGGACCCGTCCTCCTCCTCCT 0.616 10 534 --- --- --- --- FUZ 80199 broad.mit.edu 37 19 50310483 50310485 + In_Frame_Del DEL CAG CAG - TCGA-IB-7647-01A-11D-2154-08 TCGA-IB-7647-10A-01D-2154-08 Untested Somatic Phase_I WXS none Illumina GAIIx d2579415-7e40-48ba-a59c-e5543b8097dc fae3bedd-75e3-4f2a-86fa-c7e2c4dd4880 g.chr19:50310483_50310485delCAG ENST00000313777.4 - 11 1343_1345 c.1180_1182delCTG c.(1180-1182)del p.L394del FUZ_ENST00000445575.2_Intron|FUZ_ENST00000528094.1_In_Frame_Del_p.L358del|FUZ_ENST00000533418.1_In_Frame_Del_p.L344del NM_025129.4 NP_079405.2 Q9BT04 FUZZY_HUMAN fuzzy planar cell polarity protein 394 Leu-rich. cilium assembly|embryonic body morphogenesis|embryonic skeletal system morphogenesis|establishment of planar polarity|hair follicle development|neural tube closure|protein transport|regulation of smoothened signaling pathway cytoplasm|cytoskeleton endometrium(1)|lung(3) 4 all_lung(116;1.05e-05)|Lung NSC(112;3.77e-05)|all_neural(266;0.107)|Ovarian(192;0.231) OV - Ovarian serous cystadenocarcinoma(262;0.00793)|GBM - Glioblastoma multiforme(134;0.0116) TCTGGGGAGACAGCAGCAGCAGC 0.635 7 261 --- --- --- --- SIGLEC16 400709 broad.mit.edu 37 19 50474857 50474861 + RNA DEL GACGC GACGC - TCGA-IB-7647-01A-11D-2154-08 TCGA-IB-7647-10A-01D-2154-08 Untested Somatic Phase_I WXS none Illumina GAIIx d2579415-7e40-48ba-a59c-e5543b8097dc fae3bedd-75e3-4f2a-86fa-c7e2c4dd4880 g.chr19:50474857_50474861delGACGC ENST00000602139.1 + 0 998 sialic acid binding Ig-like lectin 16 (gene/pseudogene) endometrium(2)|kidney(2)|lung(6) 10 CAGTCTCCAGGACGCTTCCCTTTGC 0.566 8 285 --- --- --- --- ZNF880 400713 broad.mit.edu 37 19 52877717 52877717 + Frame_Shift_Del DEL T T - rs77187934 TCGA-IB-7647-01A-11D-2154-08 TCGA-IB-7647-10A-01D-2154-08 Untested Somatic Phase_I WXS none Illumina GAIIx d2579415-7e40-48ba-a59c-e5543b8097dc fae3bedd-75e3-4f2a-86fa-c7e2c4dd4880 g.chr19:52877717delT ENST00000597976.1 + 3 325 c.305delT c.(304-306)atfs p.I102fs ZNF880_ENST00000600321.1_Intron|ZNF880_ENST00000344085.5_Intron|ZNF880_ENST00000424032.2_Intron|ZNF880_ENST00000422689.2_Intron Q6PDB4 ZN880_HUMAN zinc finger protein 880 0 regulation of transcription, DNA-dependent intracellular nucleic acid binding|zinc ion binding breast(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(2)|skin(1) 10 GGCCCCATAAttttttttttt 0.473 8 78 --- --- --- --- CHGB 1114 broad.mit.edu 37 20 5903283 5903285 + In_Frame_Del DEL GAG GAG - TCGA-IB-7647-01A-11D-2154-08 TCGA-IB-7647-10A-01D-2154-08 Untested Somatic Phase_I WXS none Illumina GAIIx d2579415-7e40-48ba-a59c-e5543b8097dc fae3bedd-75e3-4f2a-86fa-c7e2c4dd4880 g.chr20:5903283_5903285delGAG ENST00000378961.4 + 4 697_699 c.493_495delGAG c.(493-495)del p.E169del NM_001819.2 NP_001810.2 P05060 SCG1_HUMAN chromogranin B (secretogranin 1) 169 Poly-Glu. extracellular region hormone activity breast(7)|kidney(2)|large_intestine(8)|lung(19)|ovary(1)|pancreas(2)|skin(5)|stomach(2)|upper_aerodigestive_tract(1) 47 GAGAGAGGATGAGGAGGAGGAGG 0.532 8 263 --- --- --- --- RP4-777D9.2 0 broad.mit.edu 37 20 21146805 21146805 + RNA DEL G G - TCGA-IB-7647-01A-11D-2154-08 TCGA-IB-7647-10A-01D-2154-08 Untested Somatic Phase_I WXS none Illumina GAIIx d2579415-7e40-48ba-a59c-e5543b8097dc fae3bedd-75e3-4f2a-86fa-c7e2c4dd4880 g.chr20:21146805delG ENST00000591761.1 - 0 5051 PLK1S1_ENST00000457464.1_RNA TTTTTTTTTTGTCCATGAGGC 0.383 9 115 --- --- --- --- GZF1 64412 broad.mit.edu 37 20 23345921 23345923 + In_Frame_Del DEL GAG GAG - TCGA-IB-7647-01A-11D-2154-08 TCGA-IB-7647-10A-01D-2154-08 Untested Somatic Phase_I WXS none Illumina GAIIx d2579415-7e40-48ba-a59c-e5543b8097dc fae3bedd-75e3-4f2a-86fa-c7e2c4dd4880 g.chr20:23345921_23345923delGAG ENST00000338121.5 + 2 978_980 c.901_903delGAG c.(901-903)del p.E306del GZF1_ENST00000461789.1_3'UTR|GZF1_ENST00000377051.2_In_Frame_Del_p.E306del|GZF1_ENST00000544236.1_Intron|GZF1_ENST00000542987.1_Intron Q9H116 GZF1_HUMAN GDNF-inducible zinc finger protein 1 306 transcription, DNA-dependent nucleolus|nucleoplasm sequence-specific DNA binding|zinc ion binding endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(5)|lung(7)|prostate(1)|urinary_tract(2) 24 Lung NSC(19;0.0605)|Colorectal(13;0.0993)|all_lung(19;0.135) ggaggaggaagaggaggaggagg 0.532 16 404 --- --- --- --- BCL2L1 598 broad.mit.edu 37 20 30309591 30309591 + Frame_Shift_Del DEL A A - TCGA-IB-7647-01A-11D-2154-08 TCGA-IB-7647-10A-01D-2154-08 Untested Somatic Phase_I WXS none Illumina GAIIx d2579415-7e40-48ba-a59c-e5543b8097dc fae3bedd-75e3-4f2a-86fa-c7e2c4dd4880 g.chr20:30309591delA ENST00000307677.4 - 2 841 c.431delT c.(430-432)tcfs p.F144fs BCL2L1_ENST00000420653.1_Frame_Shift_Del_p.F144fs|BCL2L1_ENST00000376062.2_Frame_Shift_Del_p.F144fs|BCL2L1_ENST00000376055.4_Intron NM_138578.1 NP_612815.1 Q07817 B2CL1_HUMAN BCL2-like 1 144 induction of apoptosis by intracellular signals|negative regulation of establishment of protein localization in plasma membrane|negative regulation of survival gene product expression|regulation of mitochondrial membrane permeability|regulation of mitochondrial membrane potential|release of cytochrome c from mitochondria|response to cytokine stimulus integral to membrane|mitochondrial outer membrane|nuclear membrane BH3 domain binding|identical protein binding breast(1)|central_nervous_system(1)|large_intestine(2)|lung(4)|pancreas(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 11 all_cancers(5;3.47e-06)|all_epithelial(3;1.83e-06)|Lung NSC(7;2.08e-06)|all_lung(7;3.63e-06)|all_hematologic(12;0.158)|Ovarian(7;0.198) Epithelial(4;2.97e-06)|all cancers(5;3.21e-05)|OV - Ovarian serous cystadenocarcinoma(3;0.00052)|Colorectal(19;0.0055)|COAD - Colon adenocarcinoma(19;0.0264) GCCGAAGGAGAAAAAGGCCAC 0.542 11 1552 --- --- --- --- BPIFB3 359710 broad.mit.edu 37 20 31644477 31644477 + Frame_Shift_Del DEL T T - TCGA-IB-7647-01A-11D-2154-08 TCGA-IB-7647-10A-01D-2154-08 Untested Somatic Phase_I WXS none Illumina GAIIx d2579415-7e40-48ba-a59c-e5543b8097dc fae3bedd-75e3-4f2a-86fa-c7e2c4dd4880 g.chr20:31644477delT ENST00000375494.3 + 2 254 c.254delT c.(253-255)gtfs p.V85fs NM_182658.1 NP_872599.1 P59826 LPLC3_HUMAN BPI fold containing family B, member 3 85 Leu-rich. innate immune response cytoplasm|extracellular region lipid binding|protein binding CACGGAGGGGTTTTTGGCGTT 0.587 7 346 --- --- --- --- SYCP2 10388 broad.mit.edu 37 20 58490593 58490593 + Frame_Shift_Del DEL T T - TCGA-IB-7647-01A-11D-2154-08 TCGA-IB-7647-10A-01D-2154-08 Untested Somatic Phase_I WXS none Illumina GAIIx d2579415-7e40-48ba-a59c-e5543b8097dc fae3bedd-75e3-4f2a-86fa-c7e2c4dd4880 g.chr20:58490593delT ENST00000357552.3 - 9 751 c.526delA c.(526-528)tgfs p.M176fs SYCP2_ENST00000371001.2_Frame_Shift_Del_p.M176fs Q9BX26 SYCP2_HUMAN synaptonemal complex protein 2 176 cell division|meiotic prophase I|synaptonemal complex assembly DNA binding NS(4)|breast(2)|central_nervous_system(1)|endometrium(7)|kidney(1)|large_intestine(14)|lung(12)|ovary(4)|prostate(1)|skin(2)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1) 53 all_lung(29;0.00344) BRCA - Breast invasive adenocarcinoma(7;1.19e-09) ATAGCATTCATTTTTTTTATA 0.289 9 1109 --- --- --- --- SCAF4 57466 broad.mit.edu 37 21 33044257 33044259 + In_Frame_Del DEL GCT GCT - TCGA-IB-7647-01A-11D-2154-08 TCGA-IB-7647-10A-01D-2154-08 Untested Somatic Phase_I WXS none Illumina GAIIx d2579415-7e40-48ba-a59c-e5543b8097dc fae3bedd-75e3-4f2a-86fa-c7e2c4dd4880 g.chr21:33044257_33044259delGCT ENST00000286835.7 - 20 3279_3281 c.2897_2899delAGC c.(2896-2901)cca>c p.QP966del SCAF4_ENST00000399804.1_In_Frame_Del_p.QP944del|SCAF4_ENST00000434667.3_In_Frame_Del_p.QP951del NM_020706.2 NP_065757.1 O95104 SFR15_HUMAN SR-related CTD-associated factor 4 966 Poly-Gln. nucleus nucleotide binding|RNA binding NS(1)|breast(2)|endometrium(9)|kidney(9)|large_intestine(11)|lung(15)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2) 54 GATGGTGgtggctgctgctgctg 0.581 32 697 --- --- --- --- TPTEP1 0 broad.mit.edu 37 22 17127506 17127507 + RNA INS - - A TCGA-IB-7647-01A-11D-2154-08 TCGA-IB-7647-10A-01D-2154-08 Untested Somatic Phase_I WXS none Illumina GAIIx d2579415-7e40-48ba-a59c-e5543b8097dc fae3bedd-75e3-4f2a-86fa-c7e2c4dd4880 g.chr22:17127506_17127507insA ENST00000426585.1 + 0 442 AGGGCCTAGAGAAAAAAAAAAT 0.421 19 459 --- --- --- --- SREBF2 6721 broad.mit.edu 37 22 42262949 42262951 + In_Frame_Del DEL GCA GCA - TCGA-IB-7647-01A-11D-2154-08 TCGA-IB-7647-10A-01D-2154-08 Untested Somatic Phase_I WXS none Illumina GAIIx d2579415-7e40-48ba-a59c-e5543b8097dc fae3bedd-75e3-4f2a-86fa-c7e2c4dd4880 g.chr22:42262949_42262951delGCA ENST00000361204.4 + 2 369_371 c.203_205delGCA c.(202-207)ggc>g p.GS68del NM_004599.2 NP_004590.2 Q12772 SRBP2_HUMAN sterol regulatory element binding transcription factor 2 68 Gly/Pro/Ser-rich. cholesterol metabolic process ER to Golgi transport vesicle membrane|Golgi membrane|nucleus|SREBP-SCAP-Insig complex protein C-terminus binding NS(2)|breast(6)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(5)|lung(9)|ovary(1)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1) 38 ggcagcagtggcagcagcagcag 0.567 20 503 --- --- --- --- SMDT1 91689 broad.mit.edu 37 22 42478046 42478048 + In_Frame_Del DEL GAT GAT - rs141840500 TCGA-IB-7647-01A-11D-2154-08 TCGA-IB-7647-10A-01D-2154-08 Untested Somatic Phase_I WXS none Illumina GAIIx d2579415-7e40-48ba-a59c-e5543b8097dc fae3bedd-75e3-4f2a-86fa-c7e2c4dd4880 g.chr22:42478046_42478048delGAT ENST00000331479.3 + 2 378_380 c.304_306delGAT c.(304-306)del p.D107del SMDT1_ENST00000547929.1_Intron NM_033318.4 NP_201575.3 single-pass membrane protein with aspartate-rich tail 1 TGTTCCAGAGGATGATGATGATG 0.478 11 495 --- --- --- --- TXLNG 55787 broad.mit.edu 37 X 16850849 16850850 + Frame_Shift_Del DEL AG AG - TCGA-IB-7647-01A-11D-2154-08 TCGA-IB-7647-10A-01D-2154-08 Untested Somatic Phase_I WXS none Illumina GAIIx d2579415-7e40-48ba-a59c-e5543b8097dc fae3bedd-75e3-4f2a-86fa-c7e2c4dd4880 g.chrX:16850849_16850850delAG ENST00000380122.5 + 6 1029_1030 c.968_969delAG c.(967-969)cfs p.Q323fs TXLNG_ENST00000398155.4_Frame_Shift_Del_p.Q191fs NM_018360.2 NP_060830.2 Q9NUQ3 TXLNG_HUMAN taxilin gamma 323 cell cycle|regulation of transcription, DNA-dependent|transcription, DNA-dependent cytosol|nuclear membrane breast(2)|large_intestine(5)|lung(6)|prostate(1)|skin(1) 15 GAAAAACATCAGAGAGAGAGAG 0.386 10 324 --- --- --- --- GAGE2D 729408 broad.mit.edu 37 X 49208295 49208296 + In_Frame_Ins INS - - TAT TCGA-IB-7647-01A-11D-2154-08 TCGA-IB-7647-10A-01D-2154-08 Untested Somatic Phase_I WXS none Illumina GAIIx d2579415-7e40-48ba-a59c-e5543b8097dc fae3bedd-75e3-4f2a-86fa-c7e2c4dd4880 g.chrX:49208295_49208296insTAT ENST00000404720.2 + 2 96_97 c.24_25insTAT c.(22-27)acatcg>acTATatcg p.8_9TS>TIS NM_001098407.1|NM_012196.1 NP_001091877.1|NP_036328.1 G antigen 2D GAAGATCGACCTATCGGCCTAG 0.465 34 57 --- --- --- --- CUL4B 8450 broad.mit.edu 37 X 119694117 119694119 + In_Frame_Del DEL GAG GAG - TCGA-IB-7647-01A-11D-2154-08 TCGA-IB-7647-10A-01D-2154-08 Untested Somatic Phase_I WXS none Illumina GAIIx d2579415-7e40-48ba-a59c-e5543b8097dc fae3bedd-75e3-4f2a-86fa-c7e2c4dd4880 g.chrX:119694117_119694119delGAG ENST00000371322.5 - 1 436_438 c.375_377delCTC c.(373-378)tca>tc p.SS127del CUL4B_ENST00000404115.3_In_Frame_Del_p.SS145del|CUL4B_ENST00000336592.6_In_Frame_Del_p.SS132del NM_001079872.1 NP_001073341.1 Q13620 CUL4B_HUMAN cullin 4B 145 Ser-rich. cell cycle|DNA repair|ubiquitin-dependent protein catabolic process Cul4B-RING ubiquitin ligase complex|nucleus protein binding|ubiquitin protein ligase binding NS(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(7)|lung(14)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 36 TGGTGAAGATgaggaggaggagg 0.488 8 237 --- --- --- ---