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 ZNF737 100129842 broad.mit.edu 37 19 20727618 20727618 + Missense_Mutation SNP G G C TCGA-FB-AAQ1-01A-12D-A40W-08 TCGA-FB-AAQ1-11A-11D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx e8f0e3bc-8015-4853-bd15-5c71403806f7 89c6ffd7-52a4-4066-b5bb-e826b90217af g.chr19:20727618G>C ENST00000427401.4 - 4 1485 c.1391C>G c.(1390-1392)tCg>tGg p.S464W NM_001159293.1 NP_001152765.1 C9JHM3 C9JHM3_HUMAN zinc finger protein 737 464 regulation of transcription, DNA-dependent intracellular nucleic acid binding|zinc ion binding breast(2)|kidney(1)|lung(7)|ovary(1)|stomach(1)|urinary_tract(1) 13 GTGTGAGGACGAGTTGAAGGC 0.423000 5 307 0 0 1 0 0 BTN2A3P 0 broad.mit.edu 37 6 26422353 26422353 + RNA SNP C C T rs141013110 TCGA-FB-AAQ1-01A-12D-A40W-08 TCGA-FB-AAQ1-11A-11D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx e8f0e3bc-8015-4853-bd15-5c71403806f7 89c6ffd7-52a4-4066-b5bb-e826b90217af g.chr6:26422353C>T ENST00000466808.2 + 0 7 p.P3S(2) GCTCATGGAACCAGCTGCTGC 0.622000 9 353 0 0 1 0 0 FRG1B 0 broad.mit.edu 37 20 29628243 29628243 + Missense_Mutation SNP T T C TCGA-FB-AAQ1-01A-12D-A40W-08 TCGA-FB-AAQ1-11A-11D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx e8f0e3bc-8015-4853-bd15-5c71403806f7 89c6ffd7-52a4-4066-b5bb-e826b90217af g.chr20:29628243T>C ENST00000278882.3 + 6 625 c.245T>C c.(244-246)tTg>tCg p.L82S FRG1B_ENST00000439954.2_Missense_Mutation_p.L87S|FRG1B_ENST00000358464.4_Missense_Mutation_p.L82S p.L82S(2) endometrium(10)|kidney(21)|lung(3)|pancreas(1)|prostate(9)|urinary_tract(9) 53 ATGGCTTTGTTGGCCTCAAAT 0.363000 9 505 0 0 1 0 0 DEPDC1B 55789 broad.mit.edu 37 5 59941390 59941390 + Silent SNP G G A TCGA-FB-AAQ1-01A-12D-A40W-08 TCGA-FB-AAQ1-11A-11D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx e8f0e3bc-8015-4853-bd15-5c71403806f7 89c6ffd7-52a4-4066-b5bb-e826b90217af g.chr5:59941390G>A ENST00000265036.5 - 4 574 c.507C>T c.(505-507)tgC>tgT p.C169C DEPDC1B_ENST00000545085.1_Silent_p.C142C|DEPDC1B_ENST00000453022.2_Silent_p.C169C NM_018369.2 NP_060839.2 Q8WUY9 DEP1B_HUMAN DEP domain containing 1B 169 regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction cytosol GTPase activator activity endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(6)|ovary(1)|pancreas(2)|skin(2) 17 Lung NSC(810;0.000214)|Prostate(74;0.0147)|Breast(144;0.0991)|Ovarian(174;0.17) GGACAAGACGGCAAGCTGGCA 0.438000 5 285 0 0 1 0 0 NLRP6 171389 broad.mit.edu 37 11 281566 281566 + Missense_Mutation SNP A A G TCGA-FB-AAQ1-01A-12D-A40W-08 TCGA-FB-AAQ1-11A-11D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx e8f0e3bc-8015-4853-bd15-5c71403806f7 89c6ffd7-52a4-4066-b5bb-e826b90217af g.chr11:281566A>G ENST00000534750.1 + 4 2037 c.1832A>G c.(1831-1833)gAg>gGg p.E611G NLRP6_ENST00000312165.5_Missense_Mutation_p.E611G 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) GAGGAGGAGGAGGGAGAGGAG 0.662000 5 594 0 0 1 0 0 FAM19A2 338811 broad.mit.edu 37 12 62148670 62148670 + Missense_Mutation SNP G G T TCGA-FB-AAQ1-01A-12D-A40W-08 TCGA-FB-AAQ1-11A-11D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx e8f0e3bc-8015-4853-bd15-5c71403806f7 89c6ffd7-52a4-4066-b5bb-e826b90217af g.chr12:62148670G>T ENST00000416284.3 - 3 1826 c.242C>A c.(241-243)gCt>gAt p.A81D FAM19A2_ENST00000550003.1_5'UTR|FAM19A2_ENST00000551619.1_Missense_Mutation_p.A81D|FAM19A2_ENST00000551449.1_Intron NM_178539.4 NP_848634.1 Q8N3H0 F19A2_HUMAN family with sequence similarity 19 (chemokine (C-C motif)-like), member A2 81 cytoplasm endometrium(1)|kidney(2)|large_intestine(2)|lung(7)|ovary(1)|skin(1)|stomach(1) 15 GBM - Glioblastoma multiforme(1;0.00484) GBM - Glioblastoma multiforme(3;0.02) ACATGATGGAGCAGCTCGCGT 0.498000 46 162 9.22156e-22 9.89332e-22 1 1 0 OXCT2 64064 broad.mit.edu 37 1 40236249 40236249 + Missense_Mutation SNP C C T TCGA-FB-AAQ1-01A-12D-A40W-08 TCGA-FB-AAQ1-11A-11D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx e8f0e3bc-8015-4853-bd15-5c71403806f7 89c6ffd7-52a4-4066-b5bb-e826b90217af g.chr1:40236249C>T ENST00000327582.5 - 1 771 c.679G>A c.(679-681)Gcc>Acc p.A227T BMP8B_ENST00000397360.2_Intron|BMP8B_ENST00000372827.3_Intron NM_022120.1 NP_071403.1 Q9BYC2 SCOT2_HUMAN 3-oxoacid CoA transferase 2 227 ketone body catabolic process microtubule-based flagellum|mitochondrion 3-oxoacid CoA-transferase activity breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(1)|pancreas(1)|upper_aerodigestive_tract(1) 6 all_cancers(7;5.56e-14)|all_lung(5;3.88e-17)|all_epithelial(6;3.78e-16)|Lung NSC(20;7.03e-07)|Ovarian(52;0.00167)|all_hematologic(146;0.0501)|Acute lymphoblastic leukemia(166;0.074) Myeloproliferative disorder(586;0.0393) OV - Ovarian serous cystadenocarcinoma(33;1.87e-18)|Epithelial(16;1.92e-17)|all cancers(16;4.03e-16)|LUSC - Lung squamous cell carcinoma(16;0.000261)|Lung(16;0.000457) Succinic acid(DB00139) AAATTGCGGGCGCTTCTCCTG 0.622000 OREG0013400 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 37 328 0 0 1 0 0 OR10C1 442194 broad.mit.edu 37 6 29408444 29408444 + Missense_Mutation SNP G G A TCGA-FB-AAQ1-01A-12D-A40W-08 TCGA-FB-AAQ1-11A-11D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx e8f0e3bc-8015-4853-bd15-5c71403806f7 89c6ffd7-52a4-4066-b5bb-e826b90217af g.chr6:29408444G>A ENST00000444197.2 + 1 1362 c.652G>A c.(652-654)Ggg>Agg p.G218R OR11A1_ENST00000377149.1_Intron NM_013941.3 NP_039229.3 Q96KK4 O10C1_HUMAN olfactory receptor, family 10, subfamily C, member 1 (gene/pseudogene) 218 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity NS(1)|breast(2)|kidney(1)|large_intestine(3)|liver(2)|lung(14)|ovary(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 27 GGGCTCCTACGGGCGTATCCT 0.582000 155 600 0 0 1 0 0 PCDHB2 0 broad.mit.edu 37 5 140476357 140476357 + Silent SNP C C T TCGA-FB-AAQ1-01A-12D-A40W-08 TCGA-FB-AAQ1-11A-11D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx e8f0e3bc-8015-4853-bd15-5c71403806f7 89c6ffd7-52a4-4066-b5bb-e826b90217af g.chr5:140476357C>T ENST00000194155.4 + 1 2131 c.1983C>T c.(1981-1983)caC>caT p.H661H NM_018936.2 NP_061759.1 Q9Y5E7 PCDB2_HUMAN 661 Cadherin 6. calcium-dependent cell-cell adhesion|homophilic cell adhesion|synapse assembly|synaptic transmission integral to plasma membrane calcium ion binding NS(1)|breast(1)|endometrium(3)|kidney(1)|large_intestine(22)|lung(24)|ovary(3)|pancreas(1)|prostate(3)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(2) 71 KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339) CCACGCTGCACGTGCTCCTGG 0.711000 5 293 0 0 1 0 0 FRG1B 0 broad.mit.edu 37 20 29628299 29628299 + Missense_Mutation SNP A A G TCGA-FB-AAQ1-01A-12D-A40W-08 TCGA-FB-AAQ1-11A-11D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx e8f0e3bc-8015-4853-bd15-5c71403806f7 89c6ffd7-52a4-4066-b5bb-e826b90217af g.chr20:29628299A>G ENST00000278882.3 + 6 681 c.301A>G c.(301-303)Agt>Ggt p.S101G FRG1B_ENST00000439954.2_Missense_Mutation_p.S106G|FRG1B_ENST00000358464.4_Missense_Mutation_p.S101G endometrium(10)|kidney(21)|lung(3)|pancreas(1)|prostate(9)|urinary_tract(9) 53 AGAAGCAAAAAGTAAAACAGC 0.363000 5 356 0 0 1 0 0 ZNF347 84671 broad.mit.edu 37 19 53644064 53644064 + Missense_Mutation SNP T T C TCGA-FB-AAQ1-01A-12D-A40W-08 TCGA-FB-AAQ1-11A-11D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx e8f0e3bc-8015-4853-bd15-5c71403806f7 89c6ffd7-52a4-4066-b5bb-e826b90217af g.chr19:53644064T>C ENST00000452676.2 - 5 2446 c.2020A>G c.(2020-2022)Aga>Gga p.R674G ZNF347_ENST00000601804.1_Intron|ZNF347_ENST00000601469.2_Missense_Mutation_p.R674G|ZNF347_ENST00000334197.7_Missense_Mutation_p.R673G NM_001172674.1 NP_001166145.1 Q96SE7 ZN347_HUMAN zinc finger protein 347 673 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding endometrium(3)|kidney(2)|large_intestine(6)|lung(8)|prostate(3)|skin(1) 23 GBM - Glioblastoma multiforme(134;0.0179) GTATGAACTCTCCGATGTCTT 0.428000 8 633 0 0 1 0 0 ANKRD30BP2 0 broad.mit.edu 37 21 14414855 14414855 + RNA SNP A A G rs141732548 by1000genomes TCGA-FB-AAQ1-01A-12D-A40W-08 TCGA-FB-AAQ1-11A-11D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx e8f0e3bc-8015-4853-bd15-5c71403806f7 89c6ffd7-52a4-4066-b5bb-e826b90217af g.chr21:14414855A>G ENST00000507941.1 + 0 95 GCCAATGGCCATGCAGAAGTA 0.448000 8 239 0 0 1 0 0 RP1L1 94137 broad.mit.edu 37 8 10465022 10465022 + Missense_Mutation SNP T T C TCGA-FB-AAQ1-01A-12D-A40W-08 TCGA-FB-AAQ1-11A-11D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx e8f0e3bc-8015-4853-bd15-5c71403806f7 89c6ffd7-52a4-4066-b5bb-e826b90217af g.chr8:10465022T>C ENST00000382483.3 - 4 6809 c.6586A>G c.(6586-6588)Ata>Gta p.I2196V NM_178857.5 NP_849188.4 A6NKC6 A6NKC6_HUMAN retinitis pigmentosa 1-like 1 2196 intracellular signal transduction breast(5)|central_nervous_system(2)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(4)|kidney(5)|large_intestine(16)|lung(82)|ovary(8)|prostate(5)|skin(6)|upper_aerodigestive_tract(4)|urinary_tract(3) 148 COAD - Colon adenocarcinoma(149;0.0811) GGGGCCTCTATACCTTCTGAC 0.612000 7 1179 0 0 1 0 0 INTS9 55756 broad.mit.edu 37 8 28669965 28669965 + Missense_Mutation SNP G G A TCGA-FB-AAQ1-01A-12D-A40W-08 TCGA-FB-AAQ1-11A-11D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx e8f0e3bc-8015-4853-bd15-5c71403806f7 89c6ffd7-52a4-4066-b5bb-e826b90217af g.chr8:28669965G>A ENST00000416984.2 - 7 919 c.560C>T c.(559-561)gCg>gTg p.A187V INTS9_ENST00000521777.1_Missense_Mutation_p.A184V|INTS9_ENST00000521022.1_Missense_Mutation_p.A208V|INTS9_ENST00000397363.4_Missense_Mutation_p.A102V NM_001145159.2 NP_001138631.1 Q9NV88 INT9_HUMAN integrator complex subunit 9 208 snRNA processing integrator complex protein binding breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(6)|pancreas(2)|prostate(1)|urinary_tract(2) 19 Ovarian(32;0.0439) KIRC - Kidney renal clear cell carcinoma(542;0.127)|Kidney(114;0.152) CACCTGGACCGCACCAAAAAG 0.463000 5 219 0 0 1 0 0 NFE2L3 9603 broad.mit.edu 37 7 26225102 26225102 + Missense_Mutation SNP G G A TCGA-FB-AAQ1-01A-12D-A40W-08 TCGA-FB-AAQ1-11A-11D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx e8f0e3bc-8015-4853-bd15-5c71403806f7 89c6ffd7-52a4-4066-b5bb-e826b90217af g.chr7:26225102G>A ENST00000056233.3 + 4 2043 c.1784G>A c.(1783-1785)tGt>tAt p.C595Y NM_004289.6 NP_004280.5 Q9Y4A8 NF2L3_HUMAN nuclear factor, erythroid 2-like 3 595 transcription from RNA polymerase II promoter nucleus protein dimerization activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription coactivator activity p.C595Y(1) breast(2)|endometrium(1)|kidney(2)|large_intestine(4)|lung(5)|ovary(1)|prostate(2)|skin(5)|urinary_tract(7) 29 GCGCAGAACTGTCGTAAACGC 0.368000 5 272 0 0 1 0 0 CTBP2 1488 broad.mit.edu 37 10 126682486 126682486 + Silent SNP T T C rs76949963 by1000genomes TCGA-FB-AAQ1-01A-12D-A40W-08 TCGA-FB-AAQ1-11A-11D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx e8f0e3bc-8015-4853-bd15-5c71403806f7 89c6ffd7-52a4-4066-b5bb-e826b90217af g.chr10:126682486T>C ENST00000309035.6 - 6 2599 c.2469A>G c.(2467-2469)caA>caG p.Q823Q CTBP2_ENST00000411419.2_Silent_p.Q283Q|CTBP2_ENST00000337195.5_Silent_p.Q283Q|CTBP2_ENST00000494626.2_Silent_p.Q283Q|CTBP2_ENST00000334808.6_Silent_p.Q351Q|CTBP2_ENST00000531469.1_Silent_p.Q283Q NM_022802.2 NP_073713.2 P56545 CTBP2_HUMAN C-terminal binding protein 2 283 negative regulation of cell proliferation|negative regulation of transcription, DNA-dependent|transcription, DNA-dependent|viral genome replication|white fat cell differentiation cell junction|synapse|transcriptional repressor complex NAD binding|oxidoreductase activity, acting on the CH-OH group of donors, NAD or NADP as acceptor|protein binding breast(1)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(7)|ovary(1)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1) 25 all_lung(145;0.0132)|Lung NSC(174;0.0193)|all_neural(114;0.116)|Colorectal(57;0.173) Colorectal(40;0.00572)|COAD - Colon adenocarcinoma(40;0.0127)|GBM - Glioblastoma multiforme(135;0.147) CCTTGAGGGCTTGTGCTAAGG 0.617000 6 593 0 0 1 0 0 FRG1B 0 broad.mit.edu 37 20 29628282 29628282 + Missense_Mutation SNP G G A TCGA-FB-AAQ1-01A-12D-A40W-08 TCGA-FB-AAQ1-11A-11D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx e8f0e3bc-8015-4853-bd15-5c71403806f7 89c6ffd7-52a4-4066-b5bb-e826b90217af g.chr20:29628282G>A ENST00000278882.3 + 6 664 c.284G>A c.(283-285)gGg>gAg p.G95E FRG1B_ENST00000439954.2_Missense_Mutation_p.G100E|FRG1B_ENST00000358464.4_Missense_Mutation_p.G95E endometrium(10)|kidney(21)|lung(3)|pancreas(1)|prostate(9)|urinary_tract(9) 53 AATGAAGCAGGGGACATAGAA 0.373000 5 417 0 0 1 0 0 STOX2 56977 broad.mit.edu 37 4 184930914 184930914 + Missense_Mutation SNP G G A TCGA-FB-AAQ1-01A-12D-A40W-08 TCGA-FB-AAQ1-11A-11D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx e8f0e3bc-8015-4853-bd15-5c71403806f7 89c6ffd7-52a4-4066-b5bb-e826b90217af g.chr4:184930914G>A ENST00000308497.4 + 3 2358 c.923G>A c.(922-924)cGg>cAg p.R308Q STOX2_ENST00000438269.1_Missense_Mutation_p.R308Q NM_020225.1 NP_064610.1 Q9P2F5 STOX2_HUMAN storkhead box 2 308 embryo development|maternal placenta development breast(1)|endometrium(7)|lung(6) 14 all_lung(41;1.89e-12)|Lung NSC(41;3.48e-12)|Colorectal(36;0.00435)|Renal(120;0.0246)|Hepatocellular(41;0.0268)|all_hematologic(60;0.027)|Prostate(90;0.0283) all cancers(43;2.85e-26)|Epithelial(43;2.27e-22)|OV - Ovarian serous cystadenocarcinoma(60;3.4e-10)|Colorectal(24;8.23e-06)|GBM - Glioblastoma multiforme(59;1.64e-05)|STAD - Stomach adenocarcinoma(60;3.6e-05)|COAD - Colon adenocarcinoma(29;4.37e-05)|LUSC - Lung squamous cell carcinoma(40;0.008)|READ - Rectum adenocarcinoma(43;0.227) ACGATCCCTCGGGAAGTAGAG 0.502000 24 82 0 0 1 0 0 NPY4R 0 broad.mit.edu 37 10 47087166 47087166 + Missense_Mutation SNP C C T TCGA-FB-AAQ1-01A-12D-A40W-08 TCGA-FB-AAQ1-11A-11D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx e8f0e3bc-8015-4853-bd15-5c71403806f7 89c6ffd7-52a4-4066-b5bb-e826b90217af g.chr10:47087166C>T ENST00000374312.1 + 3 802 c.383C>T c.(382-384)tCc>tTc p.S128F NPY4R_ENST00000395716.1_Missense_Mutation_p.S128F NM_005972.4 NP_005963.3 neuropeptide Y receptor Y4 GTGACGGTCTCCATCCTCTCG 0.587000 76 758 0 0 1 0 0 CEACAM6 4680 broad.mit.edu 37 19 42260672 42260672 + Missense_Mutation SNP A A C TCGA-FB-AAQ1-01A-12D-A40W-08 TCGA-FB-AAQ1-11A-11D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx e8f0e3bc-8015-4853-bd15-5c71403806f7 89c6ffd7-52a4-4066-b5bb-e826b90217af g.chr19:42260672A>C ENST00000199764.6 + 2 447 c.229A>C c.(229-231)Agt>Cgt p.S77R CEA_ENST00000598976.1_Intron NM_002483.4 NP_002474.3 P40199 CEAM6_HUMAN carcinoembryonic antigen-related cell adhesion molecule 6 (non-specific cross reacting antigen) 77 Ig-like V-type. cell-cell signaling|signal transduction anchored to membrane|integral to plasma membrane breast(1)|kidney(4)|large_intestine(1)|lung(4)|ovary(2)|prostate(2)|skin(2)|stomach(1)|urinary_tract(1) 18 OV - Ovarian serous cystadenocarcinoma(3;0.00575)|all cancers(3;0.0352)|Epithelial(262;0.0797) GGATGGCAACAGTCTAATTGT 0.502000 6 693 0 0 1 0 0 PIAS2 9063 broad.mit.edu 37 18 44470558 44470558 + Missense_Mutation SNP T T C TCGA-FB-AAQ1-01A-12D-A40W-08 TCGA-FB-AAQ1-11A-11D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx e8f0e3bc-8015-4853-bd15-5c71403806f7 89c6ffd7-52a4-4066-b5bb-e826b90217af g.chr18:44470558T>C ENST00000585916.1 - 2 483 c.484A>G c.(484-486)Aag>Gag p.K162E PIAS2_ENST00000545673.1_Intron|PIAS2_ENST00000324794.7_Missense_Mutation_p.K162E NM_004671.3 NP_004662.2 O75928 PIAS2_HUMAN protein inhibitor of activated STAT, 2 162 PINIT. androgen receptor signaling pathway|negative regulation of androgen receptor signaling pathway|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent nuclear speck|PML body androgen receptor binding|DNA binding|protein binding|SUMO ligase activity|transcription coactivator activity|zinc ion binding breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(8)|ovary(2)|skin(3)|upper_aerodigestive_tract(1) 22 CTCGTGGGCTTGATGAGAACA 0.398000 4 164 0 0 1 0 0 LL22NC03-80A10.6 0 broad.mit.edu 37 22 22664141 22664141 + RNA SNP G G A TCGA-FB-AAQ1-01A-12D-A40W-08 TCGA-FB-AAQ1-11A-11D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx e8f0e3bc-8015-4853-bd15-5c71403806f7 89c6ffd7-52a4-4066-b5bb-e826b90217af g.chr22:22664141G>A ENST00000426066.1 + 0 664 NR_027293.1 AAATTTGAAGGTGCTGTGATT 0.448000 5 307 0 0 1 0 0 HSD17B7P2 0 broad.mit.edu 37 10 38654432 38654432 + RNA SNP A A G rs2257765 TCGA-FB-AAQ1-01A-12D-A40W-08 TCGA-FB-AAQ1-11A-11D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx e8f0e3bc-8015-4853-bd15-5c71403806f7 89c6ffd7-52a4-4066-b5bb-e826b90217af g.chr10:38654432A>G ENST00000494540.1 + 0 599 NR_003086.1 TCATCTCGCAATGCAAGGAAA 0.453000 6 221 0 0 1 0 0 HS6ST1 9394 broad.mit.edu 37 2 129026419 129026419 + Nonsense_Mutation SNP G G A rs139541363 by1000genomes TCGA-FB-AAQ1-01A-12D-A40W-08 TCGA-FB-AAQ1-11A-11D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx e8f0e3bc-8015-4853-bd15-5c71403806f7 89c6ffd7-52a4-4066-b5bb-e826b90217af g.chr2:129026419G>A ENST00000259241.6 - 2 566 c.553C>T c.(553-555)Cga>Tga p.R185* NM_004807.2 NP_004798.3 O60243 H6ST1_HUMAN heparan sulfate 6-O-sulfotransferase 1 185 3'-phosphate binding (Potential). heparan sulfate proteoglycan biosynthetic process, enzymatic modification integral to plasma membrane sulfotransferase activity p.R185*(2) endometrium(3)|liver(1)|lung(7)|pancreas(1)|prostate(2)|skin(1) 15 Colorectal(110;0.1) BRCA - Breast invasive adenocarcinoma(221;0.117) ACGGGGTCTCGTAGCAGGGTG 0.627000 5 193 0 0 1 0 0 FLG2 388698 broad.mit.edu 37 1 152325523 152325523 + Missense_Mutation SNP G G C TCGA-FB-AAQ1-01A-12D-A40W-08 TCGA-FB-AAQ1-11A-11D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx e8f0e3bc-8015-4853-bd15-5c71403806f7 89c6ffd7-52a4-4066-b5bb-e826b90217af g.chr1:152325523G>C ENST00000388718.5 - 3 4811 c.4739C>G c.(4738-4740)aCt>aGt p.T1580S FLG-AS1_ENST00000445097.1_RNA|FLG-AS1_ENST00000392688.2_RNA NM_001014342.2 NP_001014364.1 Q5D862 FILA2_HUMAN filaggrin family member 2 1580 calcium ion binding|structural molecule activity NS(2)|breast(7)|cervix(3)|endometrium(11)|kidney(9)|large_intestine(24)|liver(1)|lung(85)|ovary(12)|pancreas(1)|prostate(6)|skin(17)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(5) 188 Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127) LUSC - Lung squamous cell carcinoma(543;0.206) TTCACTGTCAGTGGACTCACT 0.507000 6 1056 0 0 1 0 0 TOR2A 27433 broad.mit.edu 37 9 130496760 130496760 + Missense_Mutation SNP G G A TCGA-FB-AAQ1-01A-12D-A40W-08 TCGA-FB-AAQ1-11A-11D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx e8f0e3bc-8015-4853-bd15-5c71403806f7 89c6ffd7-52a4-4066-b5bb-e826b90217af g.chr9:130496760G>A ENST00000373281.5 - 2 258 c.235C>T c.(235-237)Cgg>Tgg p.R79W TOR2A_ENST00000472723.1_5'UTR|TOR2A_ENST00000458505.3_Intron|TOR2A_ENST00000373284.5_Missense_Mutation_p.R79W|TOR2A_ENST00000336067.6_Missense_Mutation_p.R79W NM_130459.3 NP_569726.2 Q5JU69 TOR2A_HUMAN torsin family 2, member A 79 chaperone mediated protein folding requiring cofactor endoplasmic reticulum|extracellular region ATP binding|nucleoside-triphosphatase activity NS(1)|endometrium(2) 3 GCTGGGTCCCGCACAAAGGCC 0.662000 OREG0019509 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 4 105 0 0 1 0 0 SPINK5 11005 broad.mit.edu 37 5 147510862 147510862 + Missense_Mutation SNP T T C TCGA-FB-AAQ1-01A-12D-A40W-08 TCGA-FB-AAQ1-11A-11D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx e8f0e3bc-8015-4853-bd15-5c71403806f7 89c6ffd7-52a4-4066-b5bb-e826b90217af g.chr5:147510862T>C ENST00000359874.3 + 32 3168 c.3095T>C c.(3094-3096)aTa>aCa p.I1032T SPINK5_ENST00000256084.7_Missense_Mutation_p.I1002T NM_001127698.1 NP_001121170.1 Q9NQ38 ISK5_HUMAN serine peptidase inhibitor, Kazal type 5 1002 Kazal-like 15. anagen|epithelial cell differentiation|extracellular matrix organization|hair cell differentiation|negative regulation of angiogenesis|negative regulation of immune response|regulation of T cell differentiation cell cortex|cytosol|endoplasmic reticulum membrane|extracellular region|lamellar body|perinuclear region of cytoplasm serine-type endopeptidase inhibitor activity breast(2)|central_nervous_system(1)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(11)|lung(16)|ovary(4)|prostate(1)|skin(5)|stomach(8)|upper_aerodigestive_tract(2) 64 KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191) TTGCCCAGGATAGGTTATCTT 0.428000 145 665 0 0 1 0 0 PRB3 5544 broad.mit.edu 37 12 11420862 11420862 + RNA SNP T T G TCGA-FB-AAQ1-01A-12D-A40W-08 TCGA-FB-AAQ1-11A-11D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx e8f0e3bc-8015-4853-bd15-5c71403806f7 89c6ffd7-52a4-4066-b5bb-e826b90217af g.chr12:11420862T>G ENST00000381842.3 - 0 358 PRB3_ENST00000538488.1_RNA|PRB3_ENST00000440870.3_RNA|PRB3_ENST00000279573.6_RNA NM_006249.4 NP_006240.4 Q04118 PRB3_HUMAN proline-rich protein BstNI subfamily 3 extracellular region Gram-negative bacterial cell surface binding breast(2)|endometrium(1)|kidney(2)|large_intestine(1)|lung(13)|ovary(1)|skin(5) 25 OV - Ovarian serous cystadenocarcinoma(49;0.201) GGGACTGGTTTCCTCCTTGTG 0.632000 7 1260 0 0 1 0 0 IP6K3 117283 broad.mit.edu 37 6 33690903 33690903 + Nonsense_Mutation SNP G G T TCGA-FB-AAQ1-01A-12D-A40W-08 TCGA-FB-AAQ1-11A-11D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx e8f0e3bc-8015-4853-bd15-5c71403806f7 89c6ffd7-52a4-4066-b5bb-e826b90217af g.chr6:33690903G>T ENST00000451316.1 - 7 1362 c.827C>A c.(826-828)tCa>tAa p.S276* IP6K3_ENST00000293756.4_Nonsense_Mutation_p.S276* NM_001142883.1 NP_001136355.1 Q96PC2 IP6K3_HUMAN inositol hexakisphosphate kinase 3 276 inositol phosphate biosynthetic process|phosphatidylinositol metabolic process|protein phosphorylation cytoplasm ATP binding|inositol hexakisphosphate 5-kinase activity|inositol hexakisphosphate 6-kinase activity|inositol trisphosphate 3-kinase activity skin(1) 1 CCCCTCCACTGAGAGTTTTCT 0.453000 22 216 3.73808e-20 3.98401e-20 1 1 0 KCNB2 9312 broad.mit.edu 37 8 73848256 73848256 + Silent SNP C C T TCGA-FB-AAQ1-01A-12D-A40W-08 TCGA-FB-AAQ1-11A-11D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx e8f0e3bc-8015-4853-bd15-5c71403806f7 89c6ffd7-52a4-4066-b5bb-e826b90217af g.chr8:73848256C>T ENST00000523207.1 + 3 1254 c.666C>T c.(664-666)gaC>gaT p.D222D NM_004770.2 NP_004761.2 Q92953 KCNB2_HUMAN potassium voltage-gated channel, Shab-related subfamily, member 2 222 regulation of smooth muscle contraction voltage-gated potassium channel complex delayed rectifier potassium channel activity|protein binding NS(1)|breast(4)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(20)|liver(2)|lung(31)|ovary(2)|pancreas(3)|prostate(2)|skin(8)|upper_aerodigestive_tract(4)|urinary_tract(1) 85 Breast(64;0.137) Epithelial(68;0.105) AGGAAACGGACGAATTTGGAC 0.473000 95 350 0 0 1 0 0 CTBP2 1488 broad.mit.edu 37 10 126682516 126682516 + Silent SNP G G A TCGA-FB-AAQ1-01A-12D-A40W-08 TCGA-FB-AAQ1-11A-11D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx e8f0e3bc-8015-4853-bd15-5c71403806f7 89c6ffd7-52a4-4066-b5bb-e826b90217af g.chr10:126682516G>A ENST00000309035.6 - 6 2569 c.2439C>T c.(2437-2439)ggC>ggT p.G813G CTBP2_ENST00000411419.2_Silent_p.G273G|CTBP2_ENST00000337195.5_Silent_p.G273G|CTBP2_ENST00000494626.2_Silent_p.G273G|CTBP2_ENST00000334808.6_Silent_p.G341G|CTBP2_ENST00000531469.1_Silent_p.G273G NM_022802.2 NP_073713.2 P56545 CTBP2_HUMAN C-terminal binding protein 2 273 negative regulation of cell proliferation|negative regulation of transcription, DNA-dependent|transcription, DNA-dependent|viral genome replication|white fat cell differentiation cell junction|synapse|transcriptional repressor complex NAD binding|oxidoreductase activity, acting on the CH-OH group of donors, NAD or NADP as acceptor|protein binding breast(1)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(7)|ovary(1)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1) 25 all_lung(145;0.0132)|Lung NSC(174;0.0193)|all_neural(114;0.116)|Colorectal(57;0.173) Colorectal(40;0.00572)|COAD - Colon adenocarcinoma(40;0.0127)|GBM - Glioblastoma multiforme(135;0.147) CCACCAGGCCGCCACGGGCTG 0.582000 6 561 0 0 1 0 0 WRN 7486 broad.mit.edu 37 8 31004955 31004955 + Missense_Mutation SNP G G A TCGA-FB-AAQ1-01A-12D-A40W-08 TCGA-FB-AAQ1-11A-11D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx e8f0e3bc-8015-4853-bd15-5c71403806f7 89c6ffd7-52a4-4066-b5bb-e826b90217af g.chr8:31004955G>A ENST00000298139.5 + 30 3784 c.3535G>A c.(3535-3537)Gca>Aca p.A1179T NM_000553.4 NP_000544.2 Q14191 WRN_HUMAN Werner syndrome, RecQ helicase-like 1179 HRDC. base-excision repair|cellular response to starvation|DNA recombination|DNA synthesis involved in DNA repair|multicellular organismal aging|nucleolus to nucleoplasm transport|positive regulation of hydrolase activity|regulation of apoptosis|replication fork processing|response to oxidative stress|response to UV-C|telomere maintenance centrosome|nucleolus|nucleoplasm 3'-5' exonuclease activity|ATP binding|ATP-dependent 3'-5' DNA helicase activity|bubble DNA binding|four-way junction helicase activity|G-quadruplex DNA binding|magnesium ion binding|manganese ion binding|protein complex binding|protein homodimerization activity|Y-form DNA binding central_nervous_system(2)|endometrium(4)|kidney(4)|large_intestine(13)|lung(28)|ovary(3)|skin(3)|upper_aerodigestive_tract(3) 60 Breast(100;0.195) KIRC - Kidney renal clear cell carcinoma(542;0.147)|Kidney(114;0.176)|Colorectal(111;0.192) AGCTATTCTGGCAACAAACAA 0.338000 """Mis, N, F, S""" """osteosarcoma, meningioma, others""" Genes defective in diseases associated with sensitivity to DNA damaging agents Werner syndrome 5 355 0 0 1 0 0 RPLP0P2 0 broad.mit.edu 37 11 61405030 61405030 + RNA SNP T T A TCGA-FB-AAQ1-01A-12D-A40W-08 TCGA-FB-AAQ1-11A-11D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx e8f0e3bc-8015-4853-bd15-5c71403806f7 89c6ffd7-52a4-4066-b5bb-e826b90217af g.chr11:61405030T>A ENST00000496593.1 + 0 1634 NR_002775.2 ctgctgctgctgcAGCCCCAG 0.552000 4 183 0 0 1 0 0 ZNF560 147741 broad.mit.edu 37 19 9577789 9577789 + Missense_Mutation SNP G G A rs145243922 TCGA-FB-AAQ1-01A-12D-A40W-08 TCGA-FB-AAQ1-11A-11D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx e8f0e3bc-8015-4853-bd15-5c71403806f7 89c6ffd7-52a4-4066-b5bb-e826b90217af g.chr19:9577789G>A ENST00000301480.4 - 10 2047 c.1834C>T c.(1834-1836)Cgc>Tgc p.R612C NM_152476.2 NP_689689.2 Q96MR9 ZN560_HUMAN zinc finger protein 560 612 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding p.R612C(1) NS(1)|breast(3)|endometrium(3)|kidney(2)|large_intestine(16)|liver(2)|lung(24)|ovary(2)|pancreas(1)|prostate(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(4) 65 AGATCTGAGCGTTCTGTGAAG 0.418000 53 486 0 0 1 0 0 SPEG 10290 broad.mit.edu 37 2 220356970 220356970 + Missense_Mutation SNP C C A TCGA-FB-AAQ1-01A-12D-A40W-08 TCGA-FB-AAQ1-11A-11D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx e8f0e3bc-8015-4853-bd15-5c71403806f7 89c6ffd7-52a4-4066-b5bb-e826b90217af g.chr2:220356970C>A ENST00000312358.7 + 40 9731 c.9599C>A c.(9598-9600)tCt>tAt p.S3200Y AC053503.11_ENST00000429882.1_RNA|SPEG_ENST00000485813.1_3'UTR NM_005876.4 NP_005867.3 Q15772 SPEG_HUMAN SPEG complex locus 3200 Protein kinase 2. muscle organ development|negative regulation of cell proliferation nucleus ATP binding|protein serine/threonine kinase activity breast(2)|central_nervous_system(3)|endometrium(10)|kidney(2)|large_intestine(9)|lung(42)|ovary(5)|pancreas(1)|prostate(8)|skin(1)|stomach(9)|upper_aerodigestive_tract(4)|urinary_tract(4) 100 Renal(207;0.0183) Epithelial(149;4.5e-10)|all cancers(144;7.93e-08)|Lung(261;0.00639)|LUSC - Lung squamous cell carcinoma(224;0.00829)|READ - Rectum adenocarcinoma(5;0.163) AAGGTTCTCTCTGTACATCCC 0.612000 5 286 1 1 1 1 0 LL22NC03-80A10.6 0 broad.mit.edu 37 22 22664186 22664186 + RNA SNP A A G TCGA-FB-AAQ1-01A-12D-A40W-08 TCGA-FB-AAQ1-11A-11D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx e8f0e3bc-8015-4853-bd15-5c71403806f7 89c6ffd7-52a4-4066-b5bb-e826b90217af g.chr22:22664186A>G ENST00000426066.1 + 0 709 NR_027293.1 CAGATCAAGAAAGCACTCTGA 0.498000 4 326 0 0 1 0 0 FBXO33 254170 broad.mit.edu 37 14 39868915 39868915 + Silent SNP G G A TCGA-FB-AAQ1-01A-12D-A40W-08 TCGA-FB-AAQ1-11A-11D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx e8f0e3bc-8015-4853-bd15-5c71403806f7 89c6ffd7-52a4-4066-b5bb-e826b90217af g.chr14:39868915G>A ENST00000298097.7 - 4 1810 c.1473C>T c.(1471-1473)acC>acT p.T491T FBXO33_ENST00000554190.1_3'UTR NM_203301.3 NP_976046.1 Q7Z6M2 FBX33_HUMAN F-box protein 33 491 endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(4)|urinary_tract(1) 9 Hepatocellular(127;0.213) LUAD - Lung adenocarcinoma(48;0.00107)|Lung(238;0.00121)|Epithelial(34;0.169) GBM - Glioblastoma multiforme(112;0.0425) TGCTTTCTTCGGTGACTTCAA 0.478000 16 108 0 0 1 0 0 ZSCAN18 65982 broad.mit.edu 37 19 58600197 58600197 + Silent SNP C C A TCGA-FB-AAQ1-01A-12D-A40W-08 TCGA-FB-AAQ1-11A-11D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx e8f0e3bc-8015-4853-bd15-5c71403806f7 89c6ffd7-52a4-4066-b5bb-e826b90217af g.chr19:58600197C>A ENST00000240727.6 - 3 810 c.411G>T c.(409-411)ctG>ctT p.L137L ZSCAN18_ENST00000421612.2_Silent_p.L2L|ZSCAN18_ENST00000601144.1_Silent_p.L137L|ZSCAN18_ENST00000600404.1_Silent_p.L193L NM_023926.4 NP_076415.3 Q8TBC5 ZSC18_HUMAN zinc finger and SCAN domain containing 18 137 viral reproduction nucleus DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding NS(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(8)|skin(3) 19 Colorectal(82;0.000256)|all_neural(62;0.0412)|Breast(46;0.114)|Ovarian(87;0.156) UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0152) GGGAGCCCAGCAGCATCCCTG 0.602000 37 238 2.66277e-13 2.80109e-13 1 1 0 TUBB8P7 0 broad.mit.edu 37 16 90162016 90162016 + RNA SNP A A C TCGA-FB-AAQ1-01A-12D-A40W-08 TCGA-FB-AAQ1-11A-11D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx e8f0e3bc-8015-4853-bd15-5c71403806f7 89c6ffd7-52a4-4066-b5bb-e826b90217af g.chr16:90162016A>C ENST00000567960.1 + 0 752 TUBB8P7_ENST00000564451.1_RNA TGCTGACCTGAGGAAGCTGGC 0.622000 4 50 0 0 1 0 0 F5 2153 broad.mit.edu 37 1 169510354 169510354 + Missense_Mutation SNP A A G TCGA-FB-AAQ1-01A-12D-A40W-08 TCGA-FB-AAQ1-11A-11D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx e8f0e3bc-8015-4853-bd15-5c71403806f7 89c6ffd7-52a4-4066-b5bb-e826b90217af g.chr1:169510354A>G ENST00000367796.3 - 13 4190 c.3989T>C c.(3988-3990)cTc>cCc p.L1330P F5_ENST00000367797.3_Missense_Mutation_p.L1325P P12259 FA5_HUMAN coagulation factor V (proaccelerin, labile factor) 1325 35 X 9 AA approximate tandem repeats of [TNP]-L-S-P-D-L-S-Q-T.|B. cell adhesion|platelet activation|platelet degranulation plasma membrane|platelet alpha granule lumen copper ion binding|oxidoreductase activity NS(1)|breast(4)|central_nervous_system(4)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(24)|lung(55)|ovary(3)|prostate(4)|skin(5)|stomach(1)|upper_aerodigestive_tract(7)|urinary_tract(1) 128 all_hematologic(923;0.208) Drotrecogin alfa(DB00055) TGTATGGCTGAGGTCTGGAGA 0.512000 8 1255 0 0 1 0 0 TMEM59 9528 broad.mit.edu 37 1 54518728 54518728 + Missense_Mutation SNP G G A TCGA-FB-AAQ1-01A-12D-A40W-08 TCGA-FB-AAQ1-11A-11D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx e8f0e3bc-8015-4853-bd15-5c71403806f7 89c6ffd7-52a4-4066-b5bb-e826b90217af g.chr1:54518728G>A ENST00000234831.5 - 1 383 c.134C>T c.(133-135)aCg>aTg p.T45M TMEM59_ENST00000371341.1_Intron|TMEM59_ENST00000371337.3_Missense_Mutation_p.T45M NM_004872.3 NP_004863.2 Q9BXS4 TMM59_HUMAN transmembrane protein 59 45 Golgi membrane|integral to membrane kidney(3)|lung(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1) 7 GCAAGACGCCGTATCACCCAA 0.657000 6 283 0 0 1 0 0 FZD7 8324 broad.mit.edu 37 2 202900003 202900003 + Silent SNP C C T TCGA-FB-AAQ1-01A-12D-A40W-08 TCGA-FB-AAQ1-11A-11D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx e8f0e3bc-8015-4853-bd15-5c71403806f7 89c6ffd7-52a4-4066-b5bb-e826b90217af g.chr2:202900003C>T ENST00000286201.1 + 1 694 c.633C>T c.(631-633)ccC>ccT p.P211P NM_003507.1 NP_003498.1 O75084 FZD7_HUMAN frizzled family receptor 7 211 axonogenesis|brain development|canonical Wnt receptor signaling pathway|cellular response to retinoic acid|G-protein signaling, coupled to cGMP nucleotide second messenger|gonad development|mesenchymal to epithelial transition|negative regulation of cell-substrate adhesion|negative regulation of ectodermal cell fate specification|positive regulation of epithelial cell proliferation involved in wound healing|positive regulation of phosphorylation|positive regulation of transcription, DNA-dependent|regulation of catenin import into nucleus|vasculature development|Wnt receptor signaling pathway, calcium modulating pathway apical part of cell|cytoplasm|integral to membrane|neuron projection membrane G-protein coupled receptor activity|PDZ domain binding|Wnt receptor activity|Wnt-protein binding breast(1)|endometrium(6)|large_intestine(6)|lung(11)|ovary(2)|skin(3)|upper_aerodigestive_tract(2) 31 TCTCATGCCCCCGTCAGCTCA 0.711000 OREG0015146 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 7 124 0 0 1 0 0 FAM86JP 0 broad.mit.edu 37 3 125647387 125647387 + RNA SNP G G A TCGA-FB-AAQ1-01A-12D-A40W-08 TCGA-FB-AAQ1-11A-11D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx e8f0e3bc-8015-4853-bd15-5c71403806f7 89c6ffd7-52a4-4066-b5bb-e826b90217af g.chr3:125647387G>A ENST00000485843.1 + 0 532 NR_024251.1 ACCAGAAACTGTTTCCCTATG 0.502000 7 626 0 0 1 0 0 FCGBP 8857 broad.mit.edu 37 19 40368750 40368750 + Missense_Mutation SNP G G A rs141203655 by1000genomes TCGA-FB-AAQ1-01A-12D-A40W-08 TCGA-FB-AAQ1-11A-11D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx e8f0e3bc-8015-4853-bd15-5c71403806f7 89c6ffd7-52a4-4066-b5bb-e826b90217af g.chr19:40368750G>A ENST00000221347.6 - 28 12605 c.12598C>T c.(12598-12600)Cgg>Tgg p.R4200W NM_003890.2 NP_003881.2 Q9Y6R7 FCGBP_HUMAN Fc fragment of IgG binding protein 4200 VWFD 10. extracellular region protein binding NS(3)|autonomic_ganglia(1)|breast(7)|central_nervous_system(5)|endometrium(13)|kidney(9)|large_intestine(27)|lung(49)|ovary(8)|pancreas(3)|prostate(13)|skin(9)|stomach(9)|upper_aerodigestive_tract(6)|urinary_tract(3) 165 all_cancers(60;6.03e-06)|all_lung(34;5.58e-08)|Lung NSC(34;6.62e-08)|Ovarian(47;0.06) Epithelial(26;6.25e-23)|all cancers(26;1.13e-20) ACGTCTACCCGCCAGTTCCAG 0.602000 9 1628 0 0 1 0 0 VARS 7407 broad.mit.edu 37 6 31748522 31748522 + Silent SNP G G A TCGA-FB-AAQ1-01A-12D-A40W-08 TCGA-FB-AAQ1-11A-11D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx e8f0e3bc-8015-4853-bd15-5c71403806f7 89c6ffd7-52a4-4066-b5bb-e826b90217af g.chr6:31748522G>A ENST00000375663.3 - 24 3197 c.2757C>T c.(2755-2757)acC>acT p.T919T VARS_ENST00000482996.1_5'UTR NM_006295.2 NP_006286.1 P26640 SYVC_HUMAN valyl-tRNA synthetase 919 translational elongation|valyl-tRNA aminoacylation cytosol ATP binding|protein binding|valine-tRNA ligase activity central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(18)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2) 30 L-Valine(DB00161) GGAGAGCATCGGTGCCACATT 0.612000 64 275 0 0 1 0 0 FLG 2312 broad.mit.edu 37 1 152282228 152282228 + Nonsense_Mutation SNP G G A TCGA-FB-AAQ1-01A-12D-A40W-08 TCGA-FB-AAQ1-11A-11D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx e8f0e3bc-8015-4853-bd15-5c71403806f7 89c6ffd7-52a4-4066-b5bb-e826b90217af g.chr1:152282228G>A ENST00000368799.1 - 3 5169 c.5134C>T c.(5134-5136)Cga>Tga p.R1712* FLG-AS1_ENST00000593011.1_RNA|FLG-AS1_ENST00000420707.1_RNA NM_002016.1 NP_002007.1 P20930 FILA_HUMAN filaggrin 1712 Ser-rich. keratinocyte differentiation cytoplasmic membrane-bounded vesicle|intermediate filament calcium ion binding|structural molecule activity autonomic_ganglia(1)|breast(13)|central_nervous_system(5)|cervix(2)|endometrium(38)|haematopoietic_and_lymphoid_tissue(1)|kidney(16)|large_intestine(57)|lung(211)|ovary(13)|pancreas(1)|prostate(15)|skin(24)|stomach(5)|upper_aerodigestive_tract(10)|urinary_tract(12) 424 Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127) LUSC - Lung squamous cell carcinoma(543;0.206) CTGGACCCTCGGTTTCCACTG 0.587000 Ichthyosis 248 1086 0 0 1 0 0 BCHE 590 broad.mit.edu 37 3 165547794 165547794 + Missense_Mutation SNP G G T TCGA-FB-AAQ1-01A-12D-A40W-08 TCGA-FB-AAQ1-11A-11D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx e8f0e3bc-8015-4853-bd15-5c71403806f7 89c6ffd7-52a4-4066-b5bb-e826b90217af g.chr3:165547794G>T ENST00000264381.3 - 2 1194 c.1028C>A c.(1027-1029)aCc>aAc p.T343N BCHE_ENST00000540653.1_Intron NM_000055.2 NP_000046.1 P06276 CHLE_HUMAN butyrylcholinesterase 343 choline metabolic process|cocaine metabolic process|synaptic transmission, cholinergic endoplasmic reticulum lumen|extracellular space|membrane acetylcholinesterase activity|beta-amyloid binding|carboxylesterase activity|cholinesterase activity|enzyme binding breast(1)|endometrium(2)|kidney(1)|large_intestine(10)|lung(34)|ovary(4)|pancreas(2)|stomach(1) 55 Ambenonium(DB01122)|Atropine(DB00572)|Bambuterol(DB01408)|Chlorpromazine(DB00477)|Choline(DB00122)|Cinnarizine(DB00568)|Demecarium bromide(DB00944)|Dibucaine(DB00527)|Donepezil(DB00843)|Echothiophate Iodide(DB01057)|Edrophonium(DB01010)|Ethopropazine(DB00392)|Etomidate(DB00292)|Galantamine(DB00674)|Hexafluronium bromide(DB00941)|Isoflurophate(DB00677)|Mefloquine(DB00358)|Mivacurium(DB01226)|Neostigmine(DB01400)|Pancuronium(DB01337)|Pralidoxime(DB00733)|Procainamide(DB01035)|Pyridostigmine(DB00545)|Rivastigmine(DB00989)|Succinylcholine(DB00202)|Terbutaline(DB00871)|Trimethaphan(DB01116) CAAAATCTGGGTTTTTTTAAA 0.383000 18 173 3.52763e-06 3.54954e-06 1 1 0 TIGD2 166815 broad.mit.edu 37 4 90034245 90034245 + Silent SNP C C A TCGA-FB-AAQ1-01A-12D-A40W-08 TCGA-FB-AAQ1-11A-11D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx e8f0e3bc-8015-4853-bd15-5c71403806f7 89c6ffd7-52a4-4066-b5bb-e826b90217af g.chr4:90034245C>A ENST00000317005.2 + 1 278 c.120C>A c.(118-120)tcC>tcA p.S40S NM_145715.2 NP_663761.1 Q4W5G0 TIGD2_HUMAN tigger transposable element derived 2 40 HTH psq-type. regulation of transcription, DNA-dependent chromosome, centromeric region|nucleus DNA binding breast(1)|cervix(1)|endometrium(1)|large_intestine(1)|lung(3)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1) 14 Hepatocellular(203;0.114) OV - Ovarian serous cystadenocarcinoma(123;3.86e-05) TTGGTGAATCCACAGTTCGTG 0.363000 44 290 6.48837e-15 6.87003e-15 1 1 0 BEND4 389206 broad.mit.edu 37 4 42127607 42127607 + Missense_Mutation SNP G G A TCGA-FB-AAQ1-01A-12D-A40W-08 TCGA-FB-AAQ1-11A-11D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx e8f0e3bc-8015-4853-bd15-5c71403806f7 89c6ffd7-52a4-4066-b5bb-e826b90217af g.chr4:42127607G>A ENST00000502486.1 - 4 1718 c.1139C>T c.(1138-1140)cCg>cTg p.P380L BEND4_ENST00000504360.1_Missense_Mutation_p.P376L NM_207406.3 NP_997289.2 Q6ZU67 BEND4_HUMAN BEN domain containing 4 380 NS(2)|breast(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(15)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1) 26 TACCTCTGTCGGCTGGTCAGC 0.458000 52 136 0 0 1 0 0 SAMM50 25813 broad.mit.edu 37 22 44384997 44384997 + Missense_Mutation SNP A A G TCGA-FB-AAQ1-01A-12D-A40W-08 TCGA-FB-AAQ1-11A-11D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx e8f0e3bc-8015-4853-bd15-5c71403806f7 89c6ffd7-52a4-4066-b5bb-e826b90217af g.chr22:44384997A>G ENST00000350028.4 + 13 1239 c.1082A>G c.(1081-1083)tAc>tGc p.Y361C SAMM50_ENST00000396202.3_Missense_Mutation_p.Y151C NM_015380.4 NP_056195.3 Q9Y512 SAM50_HUMAN SAMM50 sorting and assembly machinery component 361 protein import into mitochondrial outer membrane integral to membrane|integral to membrane of membrane fraction|mitochondrial sorting and assembly machinery complex protein binding endometrium(3)|large_intestine(5)|liver(1)|lung(5)|ovary(1)|prostate(1)|skin(1)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(1) 22 all_neural(38;0.0966)|Ovarian(80;0.105)|Glioma(61;0.222) TTAGGAGACTACCTAGGTGGA 0.517000 130 377 0 0 1 0 0 PRAM1 84106 broad.mit.edu 37 19 8564207 8564207 + Missense_Mutation SNP G G A TCGA-FB-AAQ1-01A-12D-A40W-08 TCGA-FB-AAQ1-11A-11D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx e8f0e3bc-8015-4853-bd15-5c71403806f7 89c6ffd7-52a4-4066-b5bb-e826b90217af g.chr19:8564207G>A ENST00000423345.4 - 2 1005 c.485C>T c.(484-486)gCg>gTg p.A162V PRAM1_ENST00000255612.3_Missense_Mutation_p.A162V Q96QH2 PRAM_HUMAN PML-RARA regulated adaptor molecule 1 210 8 X 12 AA repeats of K-P-P-[PQ]-P-[EQ]- [VAF]-T-D-L-P-K.|Pro-rich. lipid binding|protein binding breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(5)|prostate(1)|skin(1) 19 CCGGGCCGGCGCACCAGGCTC 0.672000 12 94 0 0 1 0 0 TMTC1 83857 broad.mit.edu 37 12 29659861 29659861 + Missense_Mutation SNP C C T TCGA-FB-AAQ1-01A-12D-A40W-08 TCGA-FB-AAQ1-11A-11D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx e8f0e3bc-8015-4853-bd15-5c71403806f7 89c6ffd7-52a4-4066-b5bb-e826b90217af g.chr12:29659861C>T ENST00000256062.5 - 18 2716 c.2243G>A c.(2242-2244)aGc>aAc p.S748N TMTC1_ENST00000319685.8_5'UTR|TMTC1_ENST00000539277.1_Missense_Mutation_p.S856N|TMTC1_ENST00000551659.1_Missense_Mutation_p.S918N|TMTC1_ENST00000552618.1_Missense_Mutation_p.S880N NM_175861.3 NP_787057.2 Q8IUR5 TMTC1_HUMAN transmembrane and tetratricopeptide repeat containing 1 856 integral to membrane binding breast(1)|endometrium(4)|kidney(3)|large_intestine(17)|lung(45)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 75 Lung NSC(12;7.61e-10)|Acute lymphoblastic leukemia(23;0.0122)|all_hematologic(23;0.032) CAGCAGTTTGCTGTCTGGAAC 0.443000 6 612 0 0 1 0 0 SMCHD1 23347 broad.mit.edu 37 18 2666912 2666912 + Silent SNP G G A rs7229488 TCGA-FB-AAQ1-01A-12D-A40W-08 TCGA-FB-AAQ1-11A-11D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx e8f0e3bc-8015-4853-bd15-5c71403806f7 89c6ffd7-52a4-4066-b5bb-e826b90217af g.chr18:2666912G>A ENST00000320876.6 + 3 644 c.306G>A c.(304-306)tcG>tcA p.S102S SMCHD1_ENST00000261598.8_Silent_p.S102S NM_015295.2 NP_056110.2 A6NHR9 SMHD1_HUMAN structural maintenance of chromosomes flexible hinge domain containing 1 102 chromosome organization ATP binding NS(3)|breast(3)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(16)|lung(15)|pancreas(1) 45 TGCTACAGTCGGTCAATCAGT 0.388000 32 132 0 0 1 0 0 AVP 551 broad.mit.edu 37 20 3065237 3065237 + Silent SNP G G A TCGA-FB-AAQ1-01A-12D-A40W-08 TCGA-FB-AAQ1-11A-11D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx e8f0e3bc-8015-4853-bd15-5c71403806f7 89c6ffd7-52a4-4066-b5bb-e826b90217af g.chr20:3065237G>A ENST00000380293.3 - 1 133 c.84C>T c.(82-84)ggC>ggT p.G28G NM_000490.4 NP_000481.2 P01185 NEU2_HUMAN arginine vasopressin 28 cell-cell signaling|ERK1 and ERK2 cascade|generation of precursor metabolites and energy|negative regulation of apoptosis|negative regulation of release of cytochrome c from mitochondria|positive regulation of gene expression|positive regulation of peptidyl-serine phosphorylation|protein kinase C signaling cascade|sodium-independent organic anion transport|transmembrane transport|vasoconstriction|water transport cytosol|soluble fraction caspase inhibitor activity|neurohypophyseal hormone activity|protein kinase activity|signal transducer activity|V1A vasopressin receptor binding central_nervous_system(1)|prostate(1)|skin(1) 3 COAD - Colon adenocarcinoma(99;0.00643) CCCTCTTGCCGCCCCTCGGGC 0.647000 83 621 0 0 1 0 0 SGSM1 129049 broad.mit.edu 37 22 25294312 25294312 + Missense_Mutation SNP C C T TCGA-FB-AAQ1-01A-12D-A40W-08 TCGA-FB-AAQ1-11A-11D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx e8f0e3bc-8015-4853-bd15-5c71403806f7 89c6ffd7-52a4-4066-b5bb-e826b90217af g.chr22:25294312C>T ENST00000400358.4 + 19 2453 c.2396C>T c.(2395-2397)aCg>aTg p.T799M SGSM1_ENST00000400359.4_Missense_Mutation_p.T854M NM_001098497.1|NM_001098498.1 NP_001091967.1|NP_001091968.1 Q2NKQ1 SGSM1_HUMAN small G protein signaling modulator 1 854 Rab-GAP TBC. Golgi apparatus Rab GTPase activator activity NS(2)|breast(1)|central_nervous_system(2)|endometrium(5)|kidney(2)|large_intestine(14)|lung(10)|ovary(2)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1) 41 ATGTCCATCACGGGCAGCCTG 0.612000 54 175 0 0 1 0 0 DCLK3 85443 broad.mit.edu 37 3 36759634 36759634 + Silent SNP G G A TCGA-FB-AAQ1-01A-12D-A40W-08 TCGA-FB-AAQ1-11A-11D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx e8f0e3bc-8015-4853-bd15-5c71403806f7 89c6ffd7-52a4-4066-b5bb-e826b90217af g.chr3:36759634G>A ENST00000416516.2 - 4 2110 c.1620C>T c.(1618-1620)ggC>ggT p.G540G DCLK3_ENST00000498047.1_5'UTR NM_033403.1 NP_208382.1 Q9C098 DCLK3_HUMAN doublecortin-like kinase 3 540 Protein kinase. cytoplasm|nucleus ATP binding|protein serine/threonine kinase activity p.G540G(1) breast(3)|endometrium(3)|kidney(2)|large_intestine(11)|lung(20)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(2) 48 AGAGGATCACGCCAGCAGCCC 0.547000 131 585 0 0 1 0 0 FAM86JP 0 broad.mit.edu 37 3 125647396 125647396 + RNA SNP T T C TCGA-FB-AAQ1-01A-12D-A40W-08 TCGA-FB-AAQ1-11A-11D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx e8f0e3bc-8015-4853-bd15-5c71403806f7 89c6ffd7-52a4-4066-b5bb-e826b90217af g.chr3:125647396T>C ENST00000485843.1 + 0 541 NR_024251.1 TGTTTCCCTATGAAGAGCACT 0.502000 9 638 0 0 1 0 0 TXNDC2 0 broad.mit.edu 37 18 9887074 9887074 + Missense_Mutation SNP G G A TCGA-FB-AAQ1-01A-12D-A40W-08 TCGA-FB-AAQ1-11A-11D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx e8f0e3bc-8015-4853-bd15-5c71403806f7 89c6ffd7-52a4-4066-b5bb-e826b90217af g.chr18:9887074G>A ENST00000306084.6 + 2 797 c.598G>A c.(598-600)Gaa>Aaa p.E200K TXNDC2_ENST00000536353.2_Intron|TXNDC2_ENST00000357775.4_Missense_Mutation_p.E133K NM_001098529.1 NP_001091999.1 Q86VQ3 TXND2_HUMAN thioredoxin domain containing 2 (spermatozoa) 200 22 X 15 AA approximate tandem repeat of Q-P-K-X-G-D-I-P-K-S-[PS]-E-[KE]-X-I. cell differentiation|cell redox homeostasis|glycerol ether metabolic process|multicellular organismal development|spermatogenesis cytoplasm electron carrier activity|nutrient reservoir activity|protein disulfide oxidoreductase activity|thioredoxin-disulfide reductase activity NS(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(9)|ovary(2)|pancreas(1)|skin(7)|urinary_tract(1) 31 GTCCTCAGAAGAAGCCATCCA 0.577000 7 828 0 0 1 0 0 HERC2P3 0 broad.mit.edu 37 15 20588554 20588554 + RNA SNP C C G rs112526901 by1000genomes TCGA-FB-AAQ1-01A-12D-A40W-08 TCGA-FB-AAQ1-11A-11D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx e8f0e3bc-8015-4853-bd15-5c71403806f7 89c6ffd7-52a4-4066-b5bb-e826b90217af g.chr15:20588554C>G ENST00000428453.1 - 0 4196 central_nervous_system(1)|endometrium(11)|kidney(2)|large_intestine(1)|lung(14)|pancreas(1)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1) 35 CCGTGGAAAGCGGTTGCAGAA 0.473000 10 323 0 0 1 0 0 RP11-146E13.4 0 broad.mit.edu 37 14 19857036 19857036 + RNA SNP A A G TCGA-FB-AAQ1-01A-12D-A40W-08 TCGA-FB-AAQ1-11A-11D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx e8f0e3bc-8015-4853-bd15-5c71403806f7 89c6ffd7-52a4-4066-b5bb-e826b90217af g.chr14:19857036A>G ENST00000548109.1 + 0 72 CTGGATAATAAAGTTCATCTC 0.373000 10 454 0 0 1 0 0 KRTAP6-3 337968 broad.mit.edu 37 21 31964845 31964845 + Silent SNP C C T TCGA-FB-AAQ1-01A-12D-A40W-08 TCGA-FB-AAQ1-11A-11D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx e8f0e3bc-8015-4853-bd15-5c71403806f7 89c6ffd7-52a4-4066-b5bb-e826b90217af g.chr21:31964845C>T ENST00000391624.1 + 1 87 c.60C>T c.(58-60)taC>taT p.Y20Y NM_181605.3 NP_853636.3 keratin associated protein 6-3 endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|lung(7) 10 gctgtggctacggaggcctgg 0.582000 62 192 0 0 1 0 0 TSSC2 0 broad.mit.edu 37 11 3427845 3427845 + RNA SNP C C T TCGA-FB-AAQ1-01A-12D-A40W-08 TCGA-FB-AAQ1-11A-11D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx e8f0e3bc-8015-4853-bd15-5c71403806f7 89c6ffd7-52a4-4066-b5bb-e826b90217af g.chr11:3427845C>T ENST00000529482.1 + 0 962 CTTCAAGTGGCAGGAGCAGAA 0.587000 7 192 0 0 1 0 0 HECW2 57520 broad.mit.edu 37 2 197187274 197187274 + Missense_Mutation SNP C C T TCGA-FB-AAQ1-01A-12D-A40W-08 TCGA-FB-AAQ1-11A-11D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx e8f0e3bc-8015-4853-bd15-5c71403806f7 89c6ffd7-52a4-4066-b5bb-e826b90217af g.chr2:197187274C>T ENST00000260983.2 - 7 994 c.812G>A c.(811-813)cGt>cAt p.R271H HECW2_ENST00000409111.1_5'UTR NM_020760.1 NP_065811.1 Q9P2P5 HECW2_HUMAN HECT, C2 and WW domain containing E3 ubiquitin protein ligase 2 271 C2. protein ubiquitination involved in ubiquitin-dependent protein catabolic process cytoplasm ubiquitin-protein ligase activity biliary_tract(1)|breast(3)|central_nervous_system(4)|cervix(2)|endometrium(7)|kidney(4)|large_intestine(24)|lung(45)|ovary(5)|pancreas(2)|prostate(2)|skin(10)|upper_aerodigestive_tract(2)|urinary_tract(2) 113 GATGATGGGACGGCTCTTGGC 0.423000 63 516 0 0 1 0 0 KRTAP4-6 81871 broad.mit.edu 37 17 39296431 39296431 + Silent SNP A A G TCGA-FB-AAQ1-01A-12D-A40W-08 TCGA-FB-AAQ1-11A-11D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx e8f0e3bc-8015-4853-bd15-5c71403806f7 89c6ffd7-52a4-4066-b5bb-e826b90217af g.chr17:39296431A>G ENST00000345847.4 - 1 308 c.309T>C c.(307-309)acT>acC p.T103T NM_030976.1 NP_112238.1 Q9BYQ5 KRA46_HUMAN keratin associated protein 4-6 99 29 X 5 AA repeats of C-C-[IRQVEL]-[SPTR]- [STVQRCP]. keratin filament endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|lung(1)|prostate(1)|urinary_tract(1) 9 GACGGCAGCAAGTGGGCTGGC 0.652000 4 225 0 0 1 0 0 GRIN2B 2904 broad.mit.edu 37 12 13717533 13717533 + Missense_Mutation SNP C C T TCGA-FB-AAQ1-01A-12D-A40W-08 TCGA-FB-AAQ1-11A-11D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx e8f0e3bc-8015-4853-bd15-5c71403806f7 89c6ffd7-52a4-4066-b5bb-e826b90217af g.chr12:13717533C>T ENST00000279593.3 - 13 2848 c.2639G>A c.(2638-2640)cGc>cAc p.R880H NM_000834.3 NP_000825.2 Q13224 NMDE2_HUMAN glutamate receptor, ionotropic, N-methyl D-aspartate 2B 880 response to ethanol cell junction|N-methyl-D-aspartate selective glutamate receptor complex|outer membrane-bounded periplasmic space|postsynaptic membrane glycine binding|N-methyl-D-aspartate selective glutamate receptor activity|zinc ion binding p.R880P(1)|p.R880H(1) NS(1)|breast(3)|central_nervous_system(5)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(3)|kidney(12)|large_intestine(12)|liver(1)|lung(70)|ovary(4)|prostate(6)|skin(10)|upper_aerodigestive_tract(5)|urinary_tract(1) 143 Felbamate(DB00949)|Haloperidol(DB00502)|L-Glutamic Acid(DB00142)|Loperamide(DB00836)|Memantine(DB01043) TACAGACTGGCGCTCCTCGAT 0.537000 103 520 0 0 1 0 0 AP1AR 55435 broad.mit.edu 37 4 113181980 113181980 + Missense_Mutation SNP G G A TCGA-FB-AAQ1-01A-12D-A40W-08 TCGA-FB-AAQ1-11A-11D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx e8f0e3bc-8015-4853-bd15-5c71403806f7 89c6ffd7-52a4-4066-b5bb-e826b90217af g.chr4:113181980G>A ENST00000274000.5 + 5 599 c.244G>A c.(244-246)Gaa>Aaa p.E82K AP1AR_ENST00000309703.6_Missense_Mutation_p.E82K NM_018569.4 NP_061039.3 Q63HQ0 AP1AR_HUMAN adaptor-related protein complex 1 associated regulatory protein 82 Interaction with AP1G1. protein transport early endosome|Golgi apparatus|late endosome|transport vesicle NS(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(2) 9 TTCCATTGCCGAAAAACAAAA 0.299000 4 146 0 0 1 0 0 DNAH10 196385 broad.mit.edu 37 12 124397822 124397822 + Missense_Mutation SNP G G A TCGA-FB-AAQ1-01A-12D-A40W-08 TCGA-FB-AAQ1-11A-11D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx e8f0e3bc-8015-4853-bd15-5c71403806f7 89c6ffd7-52a4-4066-b5bb-e826b90217af g.chr12:124397822G>A ENST00000409039.3 + 59 9983 c.9958G>A c.(9958-9960)Gca>Aca p.A3320T NM_207437.3 NP_997320.2 Q8IVF4 DYH10_HUMAN dynein, axonemal, heavy chain 10 3320 microtubule-based movement cilium axoneme|cytoplasm|dynein complex|microtubule ATP binding|ATPase activity|microtubule motor activity breast(1)|central_nervous_system(1)|cervix(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|lung(14)|ovary(4)|prostate(2)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(1) 52 all_neural(191;0.101)|Medulloblastoma(191;0.163) OV - Ovarian serous cystadenocarcinoma(86;0.000207)|Epithelial(86;0.000556)|all cancers(50;0.00346) GCTGATTGCCGCAGACAAACT 0.537000 18 46 0 0 1 0 0 CILP2 148113 broad.mit.edu 37 19 19655586 19655586 + Silent SNP C C T TCGA-FB-AAQ1-01A-12D-A40W-08 TCGA-FB-AAQ1-11A-11D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx e8f0e3bc-8015-4853-bd15-5c71403806f7 89c6ffd7-52a4-4066-b5bb-e826b90217af g.chr19:19655586C>T ENST00000586018.1 + 8 2352 c.2250C>T c.(2248-2250)taC>taT p.Y750Y CILP2_ENST00000291495.4_Silent_p.Y744Y Q8IUL8 CILP2_HUMAN cartilage intermediate layer protein 2 744 proteinaceous extracellular matrix carbohydrate binding|carboxypeptidase activity NS(1)|breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(3)|lung(17)|ovary(2)|prostate(2)|skin(1)|urinary_tract(1) 32 TGCGCGCCTACGCCAACGACA 0.682000 18 126 0 0 1 0 0 METAP1D 254042 broad.mit.edu 37 2 172926348 172926348 + Missense_Mutation SNP C C T TCGA-FB-AAQ1-01A-12D-A40W-08 TCGA-FB-AAQ1-11A-11D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx e8f0e3bc-8015-4853-bd15-5c71403806f7 89c6ffd7-52a4-4066-b5bb-e826b90217af g.chr2:172926348C>T ENST00000315796.4 + 2 550 c.163C>T c.(163-165)Ccg>Tcg p.P55S METAP1D_ENST00000488581.1_3'UTR NM_199227.1 NP_954697.1 Q6UB28 AMP1D_HUMAN methionyl aminopeptidase type 1D (mitochondrial) 55 N-terminal protein amino acid modification|peptidyl-methionine modification|proteolysis mitochondrion aminopeptidase activity|metal ion binding|metalloexopeptidase activity NS(1)|endometrium(1)|large_intestine(2)|lung(3)|skin(1) 8 TATAGTTTTGCCGGCTGCAGT 0.398000 8 1351 0 0 1 0 0 SLC22A16 85413 broad.mit.edu 37 6 110763856 110763856 + Silent SNP A A G TCGA-FB-AAQ1-01A-12D-A40W-08 TCGA-FB-AAQ1-11A-11D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx e8f0e3bc-8015-4853-bd15-5c71403806f7 89c6ffd7-52a4-4066-b5bb-e826b90217af g.chr6:110763856A>G ENST00000368919.3 - 4 840 c.774T>C c.(772-774)gcT>gcC p.A258A SLC22A16_ENST00000330550.4_Silent_p.A224A|SLC22A16_ENST00000439654.1_Silent_p.A258A|SLC22A16_ENST00000456137.2_3'UTR NM_033125.3 NP_149116.2 Q86VW1 S22AG_HUMAN solute carrier family 22 (organic cation/carnitine transporter), member 16 258 acid secretion|cell differentiation|multicellular organismal development|single fertilization|sperm motility|spermatogenesis integral to membrane carnitine transporter activity breast(1)|endometrium(1)|kidney(3)|large_intestine(6)|lung(16)|ovary(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(1) 34 all_cancers(87;0.00221)|Acute lymphoblastic leukemia(125;2.27e-07)|all_hematologic(75;1.38e-05)|all_epithelial(87;0.0485)|Colorectal(196;0.101) OV - Ovarian serous cystadenocarcinoma(136;0.0513)|Epithelial(106;0.0921)|all cancers(137;0.115) ATCCTGTCAAAGCCACCAGCA 0.507000 62 200 0 0 1 0 0 C18orf8 29919 broad.mit.edu 37 18 21099089 21099089 + Missense_Mutation SNP C C T TCGA-FB-AAQ1-01A-12D-A40W-08 TCGA-FB-AAQ1-11A-11D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx e8f0e3bc-8015-4853-bd15-5c71403806f7 89c6ffd7-52a4-4066-b5bb-e826b90217af g.chr18:21099089C>T ENST00000269221.3 + 9 910 c.800C>T c.(799-801)gCc>gTc p.A267V C18orf8_ENST00000590868.1_Missense_Mutation_p.A219V NM_013326.3 NP_037458.3 Q96DM3 MIC1_HUMAN chromosome 18 open reading frame 8 267 endometrium(9)|kidney(1)|large_intestine(4)|lung(4)|ovary(1)|prostate(1)|urinary_tract(1) 21 all_cancers(21;0.000122)|all_epithelial(16;8.08e-07)|Lung NSC(20;0.00206)|all_lung(20;0.00659)|Colorectal(14;0.0202)|Ovarian(20;0.127) GGAAAGTTTGCCCTGAACGTG 0.428000 6 341 0 0 1 0 0 MLLT3 4300 broad.mit.edu 37 9 20414379 20414379 + Silent SNP G G A TCGA-FB-AAQ1-01A-12D-A40W-08 TCGA-FB-AAQ1-11A-11D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx e8f0e3bc-8015-4853-bd15-5c71403806f7 89c6ffd7-52a4-4066-b5bb-e826b90217af g.chr9:20414379G>A ENST00000380338.4 - 5 751 c.465C>T c.(463-465)agC>agT p.S155S MLLT3_ENST00000355930.6_5'UTR|MLLT3_ENST00000475957.1_5'UTR|MLLT3_ENST00000429426.2_Silent_p.S152S NM_004529.2 NP_004520.2 P42568 AF9_HUMAN myeloid/lymphoid or mixed-lineage leukemia (trithorax homolog, Drosophila); translocated to, 3 155 Poly-Ser. regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus protein binding p.S155S(4) central_nervous_system(1)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(6)|lung(24)|ovary(1)|prostate(4)|skin(1)|urinary_tract(7) 66 GBM - Glioblastoma multiforme(3;4.35e-105)|Lung(42;3.48e-06)|LUSC - Lung squamous cell carcinoma(42;7.92e-05) tgctgctactgctgctgctgc 0.532000 T MLL ALL 6 173 0 0 1 0 0 EBF2 64641 broad.mit.edu 37 8 25890660 25890660 + Silent SNP G G A TCGA-FB-AAQ1-01A-12D-A40W-08 TCGA-FB-AAQ1-11A-11D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx e8f0e3bc-8015-4853-bd15-5c71403806f7 89c6ffd7-52a4-4066-b5bb-e826b90217af g.chr8:25890660G>A ENST00000520164.1 - 6 1029 c.492C>T c.(490-492)tgC>tgT p.C164C EBF2_ENST00000408929.3_Silent_p.C16C NM_022659.3 NP_073150.2 Q9HAK2 COE2_HUMAN early B-cell factor 2 164 multicellular organismal development|regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|metal ion binding endometrium(3)|kidney(2)|large_intestine(3)|lung(22)|ovary(3)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(2) 39 all_cancers(63;0.0989)|Ovarian(32;2.74e-05)|all_epithelial(46;0.0608)|Prostate(55;0.0845) UCEC - Uterine corpus endometrioid carcinoma (27;0.0277)|Epithelial(17;3.29e-10)|Colorectal(74;0.00383)|COAD - Colon adenocarcinoma(73;0.00738) TTTTCTTTTCGCAGCATCGAC 0.393000 77 315 0 0 1 0 0 THADA 63892 broad.mit.edu 37 2 43787408 43787408 + Silent SNP G G A rs78531159 TCGA-FB-AAQ1-01A-12D-A40W-08 TCGA-FB-AAQ1-11A-11D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx e8f0e3bc-8015-4853-bd15-5c71403806f7 89c6ffd7-52a4-4066-b5bb-e826b90217af g.chr2:43787408G>A ENST00000405006.4 - 16 2779 c.2428C>T c.(2428-2430)Ctg>Ttg p.L810L THADA_ENST00000415080.2_Silent_p.L520L|THADA_ENST00000330266.7_Silent_p.L520L|THADA_ENST00000404790.1_Silent_p.L810L|THADA_ENST00000402360.2_Silent_p.L810L|THADA_ENST00000405975.2_Silent_p.L810L NM_001083953.1|NM_001271643.1 NP_001077422.1|NP_001258572.1 Q6YHU6 THADA_HUMAN thyroid adenoma associated 810 binding breast(1)|endometrium(9)|kidney(5)|large_intestine(9)|liver(1)|lung(28)|ovary(4)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(5) 66 Acute lymphoblastic leukemia(82;0.00361)|all_hematologic(82;0.00837) AACTTCATCAGAAGATCAAAT 0.338000 24 67 0 0 1 0 0 CD81 975 broad.mit.edu 37 11 2411735 2411735 + Missense_Mutation SNP G G A TCGA-FB-AAQ1-01A-12D-A40W-08 TCGA-FB-AAQ1-11A-11D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx e8f0e3bc-8015-4853-bd15-5c71403806f7 89c6ffd7-52a4-4066-b5bb-e826b90217af g.chr11:2411735G>A ENST00000263645.5 + 2 416 c.160G>A c.(160-162)Gcg>Acg p.A54T CD81_ENST00000524805.1_3'UTR|CD81_ENST00000492627.1_5'UTR|CD81_ENST00000381036.3_Missense_Mutation_p.A92T|CD81_ENST00000526072.1_5'UTR NM_004356.3 NP_004347.1 P60033 CD81_HUMAN CD81 molecule 54 activation of MAPK activity|cell proliferation|phosphatidylinositol biosynthetic process|positive regulation of 1-phosphatidylinositol 4-kinase activity|positive regulation of cell proliferation|positive regulation of peptidyl-tyrosine phosphorylation|protein localization|regulation of immune response|virion attachment, binding of host cell surface receptor integral to plasma membrane protein binding endometrium(1)|lung(3)|skin(1) 5 all_epithelial(84;0.000161)|Breast(177;0.000962)|Medulloblastoma(188;0.00106)|Ovarian(85;0.0014)|all_neural(188;0.0137)|Lung NSC(207;0.209) BRCA - Breast invasive adenocarcinoma(625;0.000338)|LUSC - Lung squamous cell carcinoma(625;0.191) AGACAAGCCCGCGCCCAACAC 0.617000 71 286 0 0 1 0 0 PTPN1 5770 broad.mit.edu 37 20 49195731 49195731 + Silent SNP C C T TCGA-FB-AAQ1-01A-12D-A40W-08 TCGA-FB-AAQ1-11A-11D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx e8f0e3bc-8015-4853-bd15-5c71403806f7 89c6ffd7-52a4-4066-b5bb-e826b90217af g.chr20:49195731C>T ENST00000371621.3 + 7 903 c.729C>T c.(727-729)tcC>tcT p.S243S PTPN1_ENST00000541713.1_Silent_p.S170S NM_001278618.1|NM_002827.2 NP_001265547.1|NP_002818.1 P18031 PTN1_HUMAN protein tyrosine phosphatase, non-receptor type 1 243 Tyrosine-protein phosphatase. blood coagulation|interferon-gamma-mediated signaling pathway|negative regulation of insulin receptor signaling pathway|regulation of interferon-gamma-mediated signaling pathway|regulation of type I interferon-mediated signaling pathway|type I interferon-mediated signaling pathway cytosol|endoplasmic reticulum membrane protein tyrosine phosphatase activity|zinc ion binding p.S243S(1) central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(6)|lung(5)|skin(2) 16 Lung NSC(126;0.163) Clodronate(DB00720)|Tiludronate(DB01133) ACCCTTCTTCCGTTGATATCA 0.483000 86 588 0 0 1 0 0 IGHV3OR16-9 0 broad.mit.edu 37 16 32077592 32077592 + RNA SNP C C T TCGA-FB-AAQ1-01A-12D-A40W-08 TCGA-FB-AAQ1-11A-11D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx e8f0e3bc-8015-4853-bd15-5c71403806f7 89c6ffd7-52a4-4066-b5bb-e826b90217af g.chr16:32077592C>T ENST00000354689.6 + 0 207 RP11-1166P10.6_ENST00000566806.1_RNA GCCGATTCACCATCTCCAGGG 0.522000 214 1695 0 0 1 0 0 DNAH3 55567 broad.mit.edu 37 16 20975272 20975272 + Missense_Mutation SNP C C T TCGA-FB-AAQ1-01A-12D-A40W-08 TCGA-FB-AAQ1-11A-11D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx e8f0e3bc-8015-4853-bd15-5c71403806f7 89c6ffd7-52a4-4066-b5bb-e826b90217af g.chr16:20975272C>T ENST00000261383.3 - 53 9933 c.9934G>A c.(9934-9936)Gcc>Acc p.A3312T DNAH3_ENST00000415178.1_3'UTR NM_017539.1 NP_060009.1 Q8TD57 DYH3_HUMAN dynein, axonemal, heavy chain 3 3312 ciliary or flagellar motility|microtubule-based movement axonemal dynein complex|cilium axoneme|cytoplasm|microtubule ATP binding|microtubule motor activity NS(3)|autonomic_ganglia(1)|breast(12)|central_nervous_system(3)|cervix(2)|endometrium(15)|haematopoietic_and_lymphoid_tissue(4)|kidney(10)|large_intestine(42)|liver(2)|lung(57)|ovary(14)|pancreas(1)|prostate(7)|skin(11)|stomach(5)|upper_aerodigestive_tract(7)|urinary_tract(6) 202 GBM - Glioblastoma multiforme(48;0.207) TCGATGTTGGCCAGGTCCGAG 0.507000 17 448 0 0 1 0 0 RBM28 55131 broad.mit.edu 37 7 127975996 127975996 + Silent SNP A A G TCGA-FB-AAQ1-01A-12D-A40W-08 TCGA-FB-AAQ1-11A-11D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx e8f0e3bc-8015-4853-bd15-5c71403806f7 89c6ffd7-52a4-4066-b5bb-e826b90217af g.chr7:127975996A>G ENST00000223073.1 - 7 828 c.714T>C c.(712-714)gaT>gaC p.D238D RBM28_ENST00000415472.2_Silent_p.D97D NM_018077.2 NP_060547.2 Q9NW13 RBM28_HUMAN RNA binding motif protein 28 238 Asp/Glu-rich (acidic). mRNA processing|RNA splicing Golgi apparatus|nucleolus|spliceosomal complex nucleotide binding|RNA binding breast(1)|kidney(7)|large_intestine(3)|lung(8)|ovary(2) 21 catcatcatcatcgtcatcat 0.398000 69 240 0 0 1 0 0 ANKRD20A8P 0 broad.mit.edu 37 2 95522772 95522772 + RNA SNP T T C TCGA-FB-AAQ1-01A-12D-A40W-08 TCGA-FB-AAQ1-11A-11D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx e8f0e3bc-8015-4853-bd15-5c71403806f7 89c6ffd7-52a4-4066-b5bb-e826b90217af g.chr2:95522772T>C ENST00000432432.2 - 0 255 NR_040113.1 p.E49G(1) GCGCTCCACCTCCGCGGCGTC 0.682000 5 237 0 0 1 0 0 MMP13 4322 broad.mit.edu 37 11 102826101 102826101 + Missense_Mutation SNP C C T TCGA-FB-AAQ1-01A-12D-A40W-08 TCGA-FB-AAQ1-11A-11D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx e8f0e3bc-8015-4853-bd15-5c71403806f7 89c6ffd7-52a4-4066-b5bb-e826b90217af g.chr11:102826101C>T ENST00000260302.3 - 2 270 c.242G>A c.(241-243)gGc>gAc p.G81D MMP13_ENST00000340273.4_Missense_Mutation_p.G81D NM_002427.3 NP_002418.1 P45452 MMP13_HUMAN matrix metallopeptidase 13 (collagenase 3) 81 collagen catabolic process|proteolysis extracellular space metalloendopeptidase activity|zinc ion binding NS(1)|breast(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(15)|ovary(2)|skin(1)|stomach(1) 27 all_hematologic(158;0.00092)|Acute lymphoblastic leukemia(157;0.000967) BRCA - Breast invasive adenocarcinoma(274;0.0144) GTCAAGTTTGCCAGTCACCTC 0.473000 6 758 0 0 1 0 0 ODF2 4957 broad.mit.edu 37 9 131256879 131256879 + Missense_Mutation SNP G G T TCGA-FB-AAQ1-01A-12D-A40W-08 TCGA-FB-AAQ1-11A-11D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx e8f0e3bc-8015-4853-bd15-5c71403806f7 89c6ffd7-52a4-4066-b5bb-e826b90217af g.chr9:131256879G>T ENST00000303890.5 + 19 2356 c.1771G>T c.(1771-1773)Gac>Tac p.D591Y ODF2_ENST00000546203.1_Missense_Mutation_p.D596Y|ODF2_ENST00000372791.3_Missense_Mutation_p.D596Y|ODF2_ENST00000372807.5_Missense_Mutation_p.D610Y|ODF2_ENST00000372796.4_Missense_Mutation_p.D615Y|ODF2_ENST00000448249.3_Missense_Mutation_p.D534Y|ODF2_ENST00000351030.3_Missense_Mutation_p.D610Y|ODF2_ENST00000393533.2_Missense_Mutation_p.D615Y|ODF2_ENST00000444119.2_Missense_Mutation_p.D591Y|ODF2_ENST00000434106.2_Missense_Mutation_p.D615Y|ODF2_ENST00000372814.3_Missense_Mutation_p.D659Y NM_002540.4 NP_002531.3 Q5BJF6 ODFP2_HUMAN outer dense fiber of sperm tails 2 615 cell differentiation|G2/M transition of mitotic cell cycle|multicellular organismal development|spermatogenesis centriole|cilium|cytosol|microtubule|spindle pole protein binding|structural molecule activity autonomic_ganglia(1)|breast(7)|cervix(1)|endometrium(4)|kidney(5)|large_intestine(7)|lung(8)|ovary(1)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1) 37 TGAGTGCCAAGACCAACTGCA 0.582000 57 175 1.19403e-26 1.29821e-26 1 1 0 AOC1 26 broad.mit.edu 37 7 150556084 150556084 + Missense_Mutation SNP G G A TCGA-FB-AAQ1-01A-12D-A40W-08 TCGA-FB-AAQ1-11A-11D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx e8f0e3bc-8015-4853-bd15-5c71403806f7 89c6ffd7-52a4-4066-b5bb-e826b90217af g.chr7:150556084G>A ENST00000493429.1 + 5 2388 c.1804G>A c.(1804-1806)Gac>Aac p.D602N AOC1_ENST00000416793.2_Missense_Mutation_p.D602N|AOC1_ENST00000480582.1_3'UTR|AOC1_ENST00000467291.1_Missense_Mutation_p.D602N|AOC1_ENST00000360937.4_Missense_Mutation_p.D602N amine oxidase, copper containing 1 CTCCATGGCCGACCAGGTGCT 0.647000 12 72 0 0 1 0 0 FRG1B 0 broad.mit.edu 37 20 29625905 29625905 + Missense_Mutation SNP T T C rs137871677 by1000genomes TCGA-FB-AAQ1-01A-12D-A40W-08 TCGA-FB-AAQ1-11A-11D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx e8f0e3bc-8015-4853-bd15-5c71403806f7 89c6ffd7-52a4-4066-b5bb-e826b90217af g.chr20:29625905T>C ENST00000278882.3 + 5 529 c.149T>C c.(148-150)cTt>cCt p.L50P FRG1B_ENST00000439954.2_Missense_Mutation_p.L55P|FRG1B_ENST00000358464.4_Missense_Mutation_p.L50P p.L50P(2) endometrium(10)|kidney(21)|lung(3)|pancreas(1)|prostate(9)|urinary_tract(9) 53 GGAAAATATCTTGGTATAAAT 0.333000 7 441 0 0 1 0 0 ALMS1 7840 broad.mit.edu 37 2 73677492 73677492 + Missense_Mutation SNP G G A TCGA-FB-AAQ1-01A-12D-A40W-08 TCGA-FB-AAQ1-11A-11D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx e8f0e3bc-8015-4853-bd15-5c71403806f7 89c6ffd7-52a4-4066-b5bb-e826b90217af g.chr2:73677492G>A ENST00000264448.6 + 8 3946 c.3835G>A c.(3835-3837)Gct>Act p.A1279T ALMS1_ENST00000377715.1_Missense_Mutation_p.A1279T|ALMS1_ENST00000409009.1_Missense_Mutation_p.A1237T NM_015120.4 NP_055935.4 Q8TCU4 ALMS1_HUMAN Alstrom syndrome 1 1279 34 X 47 AA approximate tandem repeat. G2/M transition of mitotic cell cycle centrosome|cilium|cytosol|microtubule basal body|spindle pole p.A1279T(1) breast(4)|endometrium(14)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(31)|lung(68)|ovary(4)|pancreas(4)|prostate(3)|skin(8)|upper_aerodigestive_tract(1)|urinary_tract(2) 147 TGGCACACCAGCTGTAACCTC 0.433000 6 427 0 0 1 0 0 LILRA2 0 broad.mit.edu 37 19 55086927 55086927 + Missense_Mutation SNP C C G TCGA-FB-AAQ1-01A-12D-A40W-08 TCGA-FB-AAQ1-11A-11D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx e8f0e3bc-8015-4853-bd15-5c71403806f7 89c6ffd7-52a4-4066-b5bb-e826b90217af g.chr19:55086927C>G ENST00000251377.3 + 6 993 c.860C>G c.(859-861)cCc>cGc p.P287R LILRB1_ENST00000448689.1_Intron|LILRA2_ENST00000391737.1_Missense_Mutation_p.P275R|LILRA2_ENST00000251376.3_Missense_Mutation_p.P287R|LILRB1_ENST00000418536.2_Intron|LILRB1_ENST00000396321.2_Intron|LILRA2_ENST00000391738.3_Missense_Mutation_p.P287R leukocyte immunoglobulin-like receptor, subfamily A (with TM domain), member 2 breast(1)|endometrium(2)|kidney(4)|large_intestine(2)|lung(33)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(2) 50 GBM - Glioblastoma multiforme(193;0.0963) CCTGTGAGCCCCTCCCACGGG 0.637000 7 336 0 0 1 0 0 ZNF443 10224 broad.mit.edu 37 19 12542283 12542283 + Missense_Mutation SNP A A G TCGA-FB-AAQ1-01A-12D-A40W-08 TCGA-FB-AAQ1-11A-11D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx e8f0e3bc-8015-4853-bd15-5c71403806f7 89c6ffd7-52a4-4066-b5bb-e826b90217af g.chr19:12542283A>G ENST00000301547.5 - 4 900 c.703T>C c.(703-705)Tct>Cct p.S235P CTD-3105H18.16_ENST00000595562.1_Intron NM_005815.4 NP_005806.2 Q9Y2A4 ZN443_HUMAN zinc finger protein 443 235 induction of apoptosis|regulation of transcription, DNA-dependent|response to stress|transcription, DNA-dependent nucleus DNA binding|zinc ion binding breast(3)|endometrium(1)|kidney(1)|large_intestine(11)|lung(10)|pancreas(1)|prostate(1) 28 CTGTAAAAAGAAAAGGCTTTA 0.378000 6 775 0 0 1 0 0 FRG1B 0 broad.mit.edu 37 20 29628245 29628245 + Missense_Mutation SNP G G A TCGA-FB-AAQ1-01A-12D-A40W-08 TCGA-FB-AAQ1-11A-11D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx e8f0e3bc-8015-4853-bd15-5c71403806f7 89c6ffd7-52a4-4066-b5bb-e826b90217af g.chr20:29628245G>A ENST00000278882.3 + 6 627 c.247G>A c.(247-249)Gcc>Acc p.A83T FRG1B_ENST00000439954.2_Missense_Mutation_p.A88T|FRG1B_ENST00000358464.4_Missense_Mutation_p.A83T p.A83T(2) endometrium(10)|kidney(21)|lung(3)|pancreas(1)|prostate(9)|urinary_tract(9) 53 GGCTTTGTTGGCCTCAAATAG 0.353000 9 500 0 0 1 0 0 ATP8B2 57198 broad.mit.edu 37 1 154316375 154316375 + Missense_Mutation SNP G G A rs141457358 by1000genomes TCGA-FB-AAQ1-01A-12D-A40W-08 TCGA-FB-AAQ1-11A-11D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx e8f0e3bc-8015-4853-bd15-5c71403806f7 89c6ffd7-52a4-4066-b5bb-e826b90217af g.chr1:154316375G>A ENST00000368489.3 + 18 1864 c.1864G>A c.(1864-1866)Gca>Aca p.A622T NM_020452.3 NP_065185.1 P98198 AT8B2_HUMAN ATPase, aminophospholipid transporter, class I, type 8B, member 2 608 ATP biosynthetic process plasma membrane ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|magnesium ion binding|phospholipid-translocating ATPase activity IL6R/ATP8B2(2) breast(2)|endometrium(4)|kidney(3)|large_intestine(7)|lung(25)|ovary(3)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2) 51 all_lung(78;2.62e-30)|Lung NSC(65;3.94e-28)|Hepatocellular(266;0.0877) LUSC - Lung squamous cell carcinoma(543;0.185) CCAGGAGTACGCAGGGGAAGG 0.592000 44 197 0 0 1 0 0 GYS1 2997 broad.mit.edu 37 19 49485993 49485993 + Missense_Mutation SNP G G A TCGA-FB-AAQ1-01A-12D-A40W-08 TCGA-FB-AAQ1-11A-11D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx e8f0e3bc-8015-4853-bd15-5c71403806f7 89c6ffd7-52a4-4066-b5bb-e826b90217af g.chr19:49485993G>A ENST00000323798.3 - 6 1121 c.925C>T c.(925-927)Cgg>Tgg p.R309W GYS1_ENST00000541188.1_Missense_Mutation_p.R229W|GYS1_ENST00000540532.1_Intron|GYS1_ENST00000263276.6_Missense_Mutation_p.R245W|GYS1_ENST00000544287.1_Intron NM_002103.4 NP_002094.2 P13807 GYS1_HUMAN glycogen synthase 1 (muscle) 309 glucose metabolic process|glycogen biosynthetic process cytosol glycogen (starch) synthase activity|protein binding breast(1)|endometrium(4)|kidney(2)|large_intestine(3)|lung(5)|ovary(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 22 all_lung(116;4.89e-05)|Lung NSC(112;8.3e-05)|all_epithelial(76;8.64e-05)|all_neural(266;0.0506)|Ovarian(192;0.113) OV - Ovarian serous cystadenocarcinoma(262;0.000164)|all cancers(93;0.000226)|GBM - Glioblastoma multiforme(486;0.00561)|Epithelial(262;0.0286) AAATGGCCCCGCACAAACTCC 0.542000 6 519 0 0 1 0 0 KRAS 3845 broad.mit.edu 37 12 25398284 25398284 + Missense_Mutation SNP C C T rs121913529 TCGA-FB-AAQ1-01A-12D-A40W-08 TCGA-FB-AAQ1-11A-11D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx e8f0e3bc-8015-4853-bd15-5c71403806f7 89c6ffd7-52a4-4066-b5bb-e826b90217af g.chr12:25398284C>T ENST00000311936.3 - 2 226 c.35G>A c.(34-36)gGt>gAt p.G12D KRAS_ENST00000256078.4_Missense_Mutation_p.G12D|KRAS_ENST00000556131.1_Missense_Mutation_p.G12D|KRAS_ENST00000557334.1_Missense_Mutation_p.G12D 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) 40 157 0 0 1 0 0 LRFN1 57622 broad.mit.edu 37 19 39804696 39804696 + Silent SNP C C T TCGA-FB-AAQ1-01A-12D-A40W-08 TCGA-FB-AAQ1-11A-11D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx e8f0e3bc-8015-4853-bd15-5c71403806f7 89c6ffd7-52a4-4066-b5bb-e826b90217af g.chr19:39804696C>T ENST00000248668.4 - 1 1280 c.1281G>A c.(1279-1281)cgG>cgA p.R427R NM_020862.1 NP_065913.1 Q9P244 LRFN1_HUMAN leucine rich repeat and fibronectin type III domain containing 1 427 Fibronectin type-III. cell junction|integral to membrane|postsynaptic density|postsynaptic membrane central_nervous_system(2)|cervix(1)|kidney(1)|large_intestine(1)|lung(7)|ovary(2)|prostate(1)|skin(2)|urinary_tract(1) 18 all_cancers(60;1.85e-07)|all_lung(34;4.03e-08)|Lung NSC(34;4.66e-08)|all_epithelial(25;6.4e-07)|Ovarian(47;0.0512) Epithelial(26;1.96e-27)|all cancers(26;2.05e-24)|Lung(45;0.000278)|LUSC - Lung squamous cell carcinoma(53;0.000335) CTGCCACGAGCCGACGCTCAG 0.677000 4 135 0 0 1 0 0 IL31RA 133396 broad.mit.edu 37 5 55203287 55203287 + Splice_Site SNP C C T TCGA-FB-AAQ1-01A-12D-A40W-08 TCGA-FB-AAQ1-11A-11D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx e8f0e3bc-8015-4853-bd15-5c71403806f7 89c6ffd7-52a4-4066-b5bb-e826b90217af g.chr5:55203287C>T ENST00000396834.1 + 12 1792 c.1297_splice c.e12+1 p.G432_splice IL31RA_ENST00000490985.1_Splice_Site_p.G309_splice|IL31RA_ENST00000396836.2_Splice_Site_p.G451_splice|IL31RA_ENST00000447346.2_Splice_Site_p.G451_splice|IL31RA_ENST00000354961.4_Splice_Site_p.G432_splice|IL31RA_ENST00000359040.5_Splice_Site_p.G451_splice|IL31RA_ENST00000297015.3_Splice_Site_p.G309_splice NM_001242638.1 NP_001229567.1 Q8NI17 IL31R_HUMAN interleukin 31 receptor A 419 Fibronectin type-III 5. anti-apoptosis|defense response|homeostatic process|JAK-STAT cascade|macrophage differentiation|MAPKKK cascade|monocyte differentiation|negative regulation of macrophage activation|positive regulation of cell proliferation|positive regulation of transcription, DNA-dependent|positive regulation of tyrosine phosphorylation of Stat3 protein|positive regulation of tyrosine phosphorylation of Stat5 protein|transmembrane receptor protein tyrosine kinase signaling pathway integral to membrane|plasma membrane cytokine receptor activity|protein kinase binding|transcription coactivator activity endometrium(2)|kidney(2)|large_intestine(7)|lung(8)|ovary(1)|stomach(1) 21 Lung NSC(810;6.93e-05)|Prostate(74;0.00741)|Breast(144;0.0544)|Ovarian(174;0.223) CCAAAGAAGGCGGTATGAATG 0.463000 36 216 0 0 1 0 0 UBE2F 140739 broad.mit.edu 37 2 238940869 238940869 + Missense_Mutation SNP G G A TCGA-FB-AAQ1-01A-12D-A40W-08 TCGA-FB-AAQ1-11A-11D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx e8f0e3bc-8015-4853-bd15-5c71403806f7 89c6ffd7-52a4-4066-b5bb-e826b90217af g.chr2:238940869G>A ENST00000272930.4 + 8 612 c.418G>A c.(418-420)Gtt>Att p.V140I UBE2F_ENST00000409332.1_Missense_Mutation_p.V118I|UBE2F_ENST00000414443.1_Missense_Mutation_p.V108I|UBE2F_ENST00000409953.1_Missense_Mutation_p.V116I|UBE2F_ENST00000409633.1_Missense_Mutation_p.V140I|UBE2F-SCLY_ENST00000449191.1_Intron NM_001278305.1|NM_080678.2 NP_001265234.1|NP_542409.1 Q969M7 UBE2F_HUMAN ubiquitin-conjugating enzyme E2F (putative) 140 protein neddylation ATP binding|NEDD8 ligase activity|protein binding endometrium(1)|large_intestine(1) 2 Breast(86;0.0042)|Renal(207;0.00571)|Ovarian(221;0.17)|all_hematologic(139;0.182) Epithelial(121;6.7e-23)|OV - Ovarian serous cystadenocarcinoma(60;1.52e-11)|Kidney(56;3.53e-09)|KIRC - Kidney renal clear cell carcinoma(57;9.79e-08)|BRCA - Breast invasive adenocarcinoma(100;0.000136)|Lung(119;0.0126)|LUSC - Lung squamous cell carcinoma(224;0.0301) TCAGGATGTCGTTTGGGGATT 0.338000 9 157 0 0 1 0 0 TSSC2 0 broad.mit.edu 37 11 3427765 3427765 + RNA SNP G G C TCGA-FB-AAQ1-01A-12D-A40W-08 TCGA-FB-AAQ1-11A-11D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx e8f0e3bc-8015-4853-bd15-5c71403806f7 89c6ffd7-52a4-4066-b5bb-e826b90217af g.chr11:3427765G>C ENST00000529482.1 + 0 882 CACACGTCCTGCAGTGGCCTG 0.602000 5 216 0 0 1 0 0 ZNF443 10224 broad.mit.edu 37 19 12541141 12541141 + Silent SNP C C T TCGA-FB-AAQ1-01A-12D-A40W-08 TCGA-FB-AAQ1-11A-11D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx e8f0e3bc-8015-4853-bd15-5c71403806f7 89c6ffd7-52a4-4066-b5bb-e826b90217af g.chr19:12541141C>T ENST00000301547.5 - 4 2042 c.1845G>A c.(1843-1845)ccG>ccA p.P615P CTD-3105H18.16_ENST00000595562.1_Intron NM_005815.4 NP_005806.2 Q9Y2A4 ZN443_HUMAN zinc finger protein 443 615 induction of apoptosis|regulation of transcription, DNA-dependent|response to stress|transcription, DNA-dependent nucleus DNA binding|zinc ion binding breast(3)|endometrium(1)|kidney(1)|large_intestine(11)|lung(10)|pancreas(1)|prostate(1) 28 TACATTCATACGGGTTCTCTC 0.403000 7 344 0 0 1 0 0 IGHV3-11 0 broad.mit.edu 37 14 106573320 106573320 + RNA SNP G G A TCGA-FB-AAQ1-01A-12D-A40W-08 TCGA-FB-AAQ1-11A-11D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx e8f0e3bc-8015-4853-bd15-5c71403806f7 89c6ffd7-52a4-4066-b5bb-e826b90217af g.chr14:106573320G>A ENST00000390601.2 - 0 383 CCCTGGAGATGGTGAATCGGC 0.537000 6 812 0 0 1 0 0 TPCN2 219931 broad.mit.edu 37 11 68853221 68853221 + Splice_Site SNP G G A TCGA-FB-AAQ1-01A-12D-A40W-08 TCGA-FB-AAQ1-11A-11D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx e8f0e3bc-8015-4853-bd15-5c71403806f7 89c6ffd7-52a4-4066-b5bb-e826b90217af g.chr11:68853221G>A ENST00000294309.3 + 21 2021 c.e21+1 TPCN2_ENST00000442692.2_Splice_Site|TPCN2_ENST00000542467.1_Intron NM_139075.3 NP_620714.2 Q8NHX9 TPC2_HUMAN two pore segment channel 2 cellular calcium ion homeostasis|smooth muscle contraction endosome membrane|integral to membrane|lysosomal membrane NAADP-sensitive calcium-release channel activity|voltage-gated calcium channel activity breast(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(17)|prostate(2)|skin(1)|urinary_tract(1) 32 STAD - Stomach adenocarcinoma(18;0.0208)|LUAD - Lung adenocarcinoma(13;0.0713) TGACTTTGCGGTGAGCCCTGC 0.687000 6 352 0 0 1 0 0 EIF2B2 8892 broad.mit.edu 37 14 75473358 75473358 + Missense_Mutation SNP G G A TCGA-FB-AAQ1-01A-12D-A40W-08 TCGA-FB-AAQ1-11A-11D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx e8f0e3bc-8015-4853-bd15-5c71403806f7 89c6ffd7-52a4-4066-b5bb-e826b90217af g.chr14:75473358G>A ENST00000266126.5 + 6 852 c.772G>A c.(772-774)Gca>Aca p.A258T RP11-950C14.3_ENST00000554430.1_RNA NM_014239.3 NP_055054.1 P49770 EI2BB_HUMAN eukaryotic translation initiation factor 2B, subunit 2 beta, 39kDa 258 cellular response to stimulus|myelination|oligodendrocyte development|ovarian follicle development|regulation of translational initiation|response to glucose stimulus|response to heat|response to peptide hormone stimulus cytosol|eukaryotic translation initiation factor 2B complex ATP binding|GTP binding|protein binding|translation initiation factor activity endometrium(2)|kidney(1)|large_intestine(1)|lung(5)|ovary(1)|prostate(1) 11 BRCA - Breast invasive adenocarcinoma(234;0.00661) GGCACTGGCAGCAAAACACCA 0.498000 6 904 0 0 1 0 0 NRF1 4899 broad.mit.edu 37 7 129349051 129349051 + Missense_Mutation SNP G G A TCGA-FB-AAQ1-01A-12D-A40W-08 TCGA-FB-AAQ1-11A-11D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx e8f0e3bc-8015-4853-bd15-5c71403806f7 89c6ffd7-52a4-4066-b5bb-e826b90217af g.chr7:129349051G>A ENST00000393232.1 + 6 860 c.743G>A c.(742-744)cGc>cAc p.R248H NRF1_ENST00000353868.4_Missense_Mutation_p.R248H|NRF1_ENST00000311967.2_Missense_Mutation_p.R248H|NRF1_ENST00000539636.1_Missense_Mutation_p.R87H|NRF1_ENST00000223190.4_Missense_Mutation_p.R248H|NRF1_ENST00000393231.3_Missense_Mutation_p.R248H|NRF1_ENST00000393230.2_Missense_Mutation_p.R248H NM_005011.3 NP_005002.3 Q16656 NRF1_HUMAN nuclear respiratory factor 1 248 generation of precursor metabolites and energy|regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent nucleus DNA binding p.R248L(1) breast(2)|central_nervous_system(1)|cervix(1)|kidney(1)|large_intestine(5)|lung(12)|ovary(1)|prostate(1) 24 AGTGATGTCCGCACAGAAGAG 0.493000 9 741 0 0 1 0 0 NCKAP5 344148 broad.mit.edu 37 2 133541011 133541011 + Missense_Mutation SNP C C T TCGA-FB-AAQ1-01A-12D-A40W-08 TCGA-FB-AAQ1-11A-11D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx e8f0e3bc-8015-4853-bd15-5c71403806f7 89c6ffd7-52a4-4066-b5bb-e826b90217af g.chr2:133541011C>T ENST00000409261.1 - 14 3746 c.3373G>A c.(3373-3375)Gcc>Acc p.A1125T NCKAP5_ENST00000317721.6_Missense_Mutation_p.A1125T|NCKAP5_ENST00000409213.1_Intron|NCKAP5_ENST00000405974.3_Intron NM_207363.2 NP_997246.2 O14513 NCKP5_HUMAN NCK-associated protein 5 1125 Ser-rich. protein binding p.A1125S(1) 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 TGGCTTTTGGCGGGTGATGAG 0.502000 6 779 0 0 1 0 0 AC024560.3 0 broad.mit.edu 37 3 197348674 197348674 + RNA SNP A A G rs144273946 by1000genomes TCGA-FB-AAQ1-01A-12D-A40W-08 TCGA-FB-AAQ1-11A-11D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx e8f0e3bc-8015-4853-bd15-5c71403806f7 89c6ffd7-52a4-4066-b5bb-e826b90217af g.chr3:197348674A>G ENST00000418868.1 - 0 585 NR_003266.2 GGCTCTGTCCACCAAATGCAC 0.478000 5 486 0 0 1 0 0 SMG1 23049 broad.mit.edu 37 16 18896929 18896929 + Silent SNP A A G rs140363576 by1000genomes TCGA-FB-AAQ1-01A-12D-A40W-08 TCGA-FB-AAQ1-11A-11D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx e8f0e3bc-8015-4853-bd15-5c71403806f7 89c6ffd7-52a4-4066-b5bb-e826b90217af g.chr16:18896929A>G ENST00000446231.2 - 7 1294 c.882T>C c.(880-882)tgT>tgC p.C294C SMG1_ENST00000389467.3_Silent_p.C294C|SMG1_ENST00000565224.1_Silent_p.C268C Q96Q15 SMG1_HUMAN SMG1 phosphatidylinositol 3-kinase-related kinase 294 Interaction with SMG8 and SMG9. 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 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 TAACACATTTACAAAGCAATT 0.373000 7 366 0 0 1 0 0 RELN 5649 broad.mit.edu 37 7 103180720 103180720 + Missense_Mutation SNP C C T rs116394157 by1000genomes TCGA-FB-AAQ1-01A-12D-A40W-08 TCGA-FB-AAQ1-11A-11D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx e8f0e3bc-8015-4853-bd15-5c71403806f7 89c6ffd7-52a4-4066-b5bb-e826b90217af g.chr7:103180720C>T ENST00000424685.2 - 44 7013 c.6854G>A c.(6853-6855)cGt>cAt p.R2285H RELN_ENST00000428762.1_Missense_Mutation_p.R2285H|RELN_ENST00000343529.5_Missense_Mutation_p.R2285H P78509 RELN_HUMAN reelin 2285 axon guidance|cell adhesion|cerebral cortex tangential migration|glial cell differentiation|neuron migration|peptidyl-tyrosine phosphorylation|positive regulation of protein kinase activity|positive regulation of small GTPase mediated signal transduction|response to pain|spinal cord patterning cytoplasm|dendrite|extracellular space|proteinaceous extracellular matrix metal ion binding|protein serine/threonine/tyrosine kinase activity|serine-type peptidase activity NS(3)|breast(8)|central_nervous_system(3)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(4)|kidney(6)|large_intestine(43)|lung(101)|ovary(9)|pancreas(2)|prostate(4)|skin(14)|stomach(2)|upper_aerodigestive_tract(12)|urinary_tract(2) 227 COAD - Colon adenocarcinoma(1;8.98e-05)|Colorectal(1;0.00184) AGAACCAGAACGGGCTTTCAA 0.527000 91 345 0 0 1 0 0 MUC21 394263 broad.mit.edu 37 6 30955025 30955025 + Missense_Mutation SNP G G A rs55763085 TCGA-FB-AAQ1-01A-12D-A40W-08 TCGA-FB-AAQ1-11A-11D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx e8f0e3bc-8015-4853-bd15-5c71403806f7 89c6ffd7-52a4-4066-b5bb-e826b90217af g.chr6:30955025G>A ENST00000376296.3 + 2 1314 c.1073G>A c.(1072-1074)aGc>aAc p.S358N MUC21_ENST00000486149.2_5'UTR NM_001010909.2 NP_001010909.2 Q5SSG8 MUC21_HUMAN mucin 21, cell surface associated 358 28 X 15 AA approximate tandem repeats.|Ser-rich. integral to membrane|plasma membrane p.S358N(1) NS(4)|breast(1)|central_nervous_system(2)|endometrium(1)|kidney(1)|large_intestine(7)|lung(11)|ovary(3)|prostate(4)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(1) 42 AGTGGGGCCAGCACAGCCACC 0.642000 9 1112 0 0 1 0 0 HAS1 3036 broad.mit.edu 37 19 52217079 52217079 + Silent SNP C C T TCGA-FB-AAQ1-01A-12D-A40W-08 TCGA-FB-AAQ1-11A-11D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx e8f0e3bc-8015-4853-bd15-5c71403806f7 89c6ffd7-52a4-4066-b5bb-e826b90217af g.chr19:52217079C>T ENST00000540069.2 - 5 1395 c.1335G>A c.(1333-1335)gcG>gcA p.A445A HAS1_ENST00000222115.1_Silent_p.A446A|HAS1_ENST00000601714.1_Silent_p.A453A Q92839 HAS1_HUMAN hyaluronan synthase 1 446 cell adhesion integral to plasma membrane hyaluronan synthase activity|protein binding breast(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|lung(13)|ovary(1)|pancreas(1)|prostate(1)|skin(4) 40 all_neural(266;0.0189)|Medulloblastoma(540;0.146) GBM - Glioblastoma multiforme(134;0.00102)|OV - Ovarian serous cystadenocarcinoma(262;0.0177) CCGCGAAGGCCGCCTTGGCCA 0.697000 12 66 0 0 1 0 0 SLC7A7 9056 broad.mit.edu 37 14 23244654 23244654 + Splice_Site SNP T T A TCGA-FB-AAQ1-01A-12D-A40W-08 TCGA-FB-AAQ1-11A-11D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx e8f0e3bc-8015-4853-bd15-5c71403806f7 89c6ffd7-52a4-4066-b5bb-e826b90217af g.chr14:23244654T>A ENST00000397532.3 - 7 1619 c.1095_splice c.e7+1 p.N365_splice SLC7A7_ENST00000555702.1_Splice_Site_p.N365_splice|SLC7A7_ENST00000285850.7_Splice_Site_p.N365_splice|SLC7A7_ENST00000554517.1_Splice_Site_p.N99_splice|SLC7A7_ENST00000554061.1_5'UTR|SLC7A7_ENST00000397529.2_Splice_Site_p.N365_splice|SLC7A7_ENST00000397528.4_Splice_Site_p.N365_splice Q9UM01 YLAT1_HUMAN solute carrier family 7 (amino acid transporter light chain, y+L system), member 7 365 N -> Y (in LPI). blood coagulation|cellular amino acid metabolic process|ion transport|leukocyte migration|protein complex assembly basolateral plasma membrane|integral to plasma membrane amino acid transmembrane transporter activity breast(2)|central_nervous_system(2)|endometrium(1)|kidney(1)|large_intestine(3)|lung(8)|ovary(1)|skin(2) 20 all_cancers(95;8.44e-05) GBM - Glioblastoma multiforme(265;0.00741) TTCACTTACATTGAAGAGCAG 0.473000 47 331 0 0 1 0 0 PRDM10 56980 broad.mit.edu 37 11 129800938 129800938 + Silent SNP G G A TCGA-FB-AAQ1-01A-12D-A40W-08 TCGA-FB-AAQ1-11A-11D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx e8f0e3bc-8015-4853-bd15-5c71403806f7 89c6ffd7-52a4-4066-b5bb-e826b90217af g.chr11:129800938G>A ENST00000358825.5 - 11 1734 c.1503C>T c.(1501-1503)gaC>gaT p.D501D PRDM10_ENST00000526082.1_Silent_p.D415D|PRDM10_ENST00000360871.3_Silent_p.D501D|PRDM10_ENST00000528746.1_Silent_p.D475D|PRDM10_ENST00000304538.6_Silent_p.D415D|PRDM10_ENST00000423662.2_Silent_p.D415D NM_020228.2 NP_064613.2 Q9NQV6 PRD10_HUMAN PR domain containing 10 501 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding breast(2)|endometrium(6)|kidney(3)|large_intestine(14)|lung(15)|pancreas(2)|skin(1)|stomach(3)|urinary_tract(2) 48 all_hematologic(175;0.0537) Breast(109;0.000496)|Lung NSC(97;0.000693)|all_lung(97;0.00151)|Medulloblastoma(222;0.0425)|all_neural(223;0.0837) OV - Ovarian serous cystadenocarcinoma(99;0.0174)|Lung(977;0.176)|LUSC - Lung squamous cell carcinoma(976;0.185) TGCGCATGTCGTCGGCTGTCA 0.622000 59 259 0 0 1 0 0 OR10H1 26539 broad.mit.edu 37 19 15918678 15918678 + Missense_Mutation SNP G G A TCGA-FB-AAQ1-01A-12D-A40W-08 TCGA-FB-AAQ1-11A-11D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx e8f0e3bc-8015-4853-bd15-5c71403806f7 89c6ffd7-52a4-4066-b5bb-e826b90217af g.chr19:15918678G>A ENST00000334920.2 - 1 258 c.170C>T c.(169-171)aCg>aTg p.T57M NM_013940.2 NP_039228.1 Q9Y4A9 O10H1_HUMAN olfactory receptor, family 10, subfamily H, member 1 57 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity cervix(1)|endometrium(3)|kidney(4)|large_intestine(6)|lung(8)|ovary(4)|skin(2)|urinary_tract(1) 29 GTACATGGGCGTGTGGAGGCT 0.632000 4 237 0 0 1 0 0 TNXB 7148 broad.mit.edu 37 6 32012898 32012898 + Silent SNP G G A TCGA-FB-AAQ1-01A-12D-A40W-08 TCGA-FB-AAQ1-11A-11D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx e8f0e3bc-8015-4853-bd15-5c71403806f7 89c6ffd7-52a4-4066-b5bb-e826b90217af g.chr6:32012898G>A ENST00000375244.3 - 32 11013 c.10812C>T c.(10810-10812)ggC>ggT p.G3604G TNXB_ENST00000451343.1_Silent_p.G33G|TNXB_ENST00000375247.2_Silent_p.G3602G P22105 TENX_HUMAN tenascin XB 3649 Fibronectin type-III 28. 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 TGCTCTGGTCGCCGTCCACGA 0.647000 5 158 0 0 1 0 0 NIPBL 25836 broad.mit.edu 37 5 36985035 36985035 + Missense_Mutation SNP A A G TCGA-FB-AAQ1-01A-12D-A40W-08 TCGA-FB-AAQ1-11A-11D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx e8f0e3bc-8015-4853-bd15-5c71403806f7 89c6ffd7-52a4-4066-b5bb-e826b90217af g.chr5:36985035A>G ENST00000282516.8 + 10 2252 c.1753A>G c.(1753-1755)Att>Gtt p.I585V NIPBL_ENST00000448238.2_Missense_Mutation_p.I585V|NIPBL_ENST00000504430.1_3'UTR NM_015384.4|NM_133433.3 NP_056199.2|NP_597677.2 Q6KC79 NIPBL_HUMAN Nipped-B homolog (Drosophila) 585 brain development|cellular protein localization|cellular response to X-ray|cognition|developmental growth|ear morphogenesis|embryonic arm morphogenesis|embryonic digestive tract morphogenesis|external genitalia morphogenesis|eye morphogenesis|face morphogenesis|gall bladder development|maintenance of mitotic sister chromatid cohesion|metanephros development|negative regulation of transcription from RNA polymerase II promoter|outflow tract morphogenesis|positive regulation of histone deacetylation|regulation of developmental growth|regulation of embryonic development|regulation of hair cycle|response to DNA damage stimulus|sensory perception of sound|uterus morphogenesis SMC loading complex chromo shadow domain binding|histone deacetylase binding|protein C-terminus binding|protein N-terminus binding autonomic_ganglia(1)|breast(4)|endometrium(9)|kidney(22)|large_intestine(21)|liver(1)|lung(47)|ovary(7)|pancreas(1)|prostate(1)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(4) 128 all_lung(31;0.000447)|Hepatocellular(1;0.108) Epithelial(62;0.072)|COAD - Colon adenocarcinoma(61;0.14)|all cancers(62;0.191)|Colorectal(62;0.202) TCAGGAAGATATTGTTGGAAG 0.373000 27 353 0 0 1 0 0 VWA7 80737 broad.mit.edu 37 6 31737463 31737463 + Missense_Mutation SNP G G A TCGA-FB-AAQ1-01A-12D-A40W-08 TCGA-FB-AAQ1-11A-11D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx e8f0e3bc-8015-4853-bd15-5c71403806f7 89c6ffd7-52a4-4066-b5bb-e826b90217af g.chr6:31737463G>A ENST00000375686.3 - 9 1543 c.1306C>T c.(1306-1308)Cgg>Tgg p.R436W VWA7_ENST00000447450.1_Missense_Mutation_p.R436W|VWA7_ENST00000375688.4_Missense_Mutation_p.R436W|VWA7_ENST00000467576.1_5'UTR NM_025258.2 NP_079534.2 Q9Y334 G7C_HUMAN von Willebrand factor A domain containing 7 436 extracellular region CGGCAGCGCCGCTCCTGAGTC 0.572000 47 389 0 0 1 0 0 PLEKHG5 57449 broad.mit.edu 37 1 6536011 6536013 + In_Frame_Del DEL CTC CTC - TCGA-FB-AAQ1-01A-12D-A40W-08 TCGA-FB-AAQ1-11A-11D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx e8f0e3bc-8015-4853-bd15-5c71403806f7 89c6ffd7-52a4-4066-b5bb-e826b90217af g.chr1:6536011_6536013delCTC ENST00000377748.1 - 4 855_857 c.358_360delGAG c.(358-360)del p.E120del PLEKHG5_ENST00000537245.1_In_Frame_Del_p.E122del|PLEKHG5_ENST00000377725.1_In_Frame_Del_p.E43del|PLEKHG5_ENST00000400915.3_In_Frame_Del_p.E99del|PLEKHG5_ENST00000377737.2_In_Frame_Del_p.E43del|PLEKHG5_ENST00000377740.3_In_Frame_Del_p.E120del|PLEKHG5_ENST00000377728.3_In_Frame_Del_p.E43del|PLEKHG5_ENST00000340850.5_In_Frame_Del_p.E43del|PLEKHG5_ENST00000377732.1_In_Frame_Del_p.E80del|PLEKHG5_ENST00000535355.1_In_Frame_Del_p.E112del|PLEKHG5_ENST00000400913.1_In_Frame_Del_p.E43del|PLEKHG5_ENST00000544978.1_In_Frame_Del_p.E43del NM_198681.3 NP_941374.2 O94827 PKHG5_HUMAN pleckstrin homology domain containing, family G (with RhoGef domain) member 5 99 apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|positive regulation of I-kappaB kinase/NF-kappaB cascade|regulation of Rho protein signal transduction|small GTPase mediated signal transduction cytosol|perinuclear region of cytoplasm Rho guanyl-nucleotide exchange factor activity|signal transducer activity liver(1) 1 Ovarian(185;0.02)|all_lung(157;0.154) all_cancers(23;1.7e-35)|all_epithelial(116;2.78e-22)|all_lung(118;7.57e-07)|Lung NSC(185;4.26e-06)|Colorectal(325;4.47e-05)|all_hematologic(16;0.00014)|Breast(487;0.000688)|Renal(390;0.0007)|Hepatocellular(190;0.00308)|Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.0448) Epithelial(90;5.51e-35)|GBM - Glioblastoma multiforme(13;3.57e-27)|Colorectal(212;6.23e-08)|COAD - Colon adenocarcinoma(227;1.33e-05)|Kidney(185;4.89e-05)|KIRC - Kidney renal clear cell carcinoma(229;0.000894)|BRCA - Breast invasive adenocarcinoma(365;0.00107)|STAD - Stomach adenocarcinoma(132;0.00159)|READ - Rectum adenocarcinoma(331;0.0419) CCACAGAGCTCTCCTCCTCCTCC 0.631 OREG0013041 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 7 356 --- --- --- --- AADACL3 126767 broad.mit.edu 37 1 12785494 12785494 + Frame_Shift_Del DEL G G - rs7513079 by1000genomes TCGA-FB-AAQ1-01A-12D-A40W-08 TCGA-FB-AAQ1-11A-11D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx e8f0e3bc-8015-4853-bd15-5c71403806f7 89c6ffd7-52a4-4066-b5bb-e826b90217af g.chr1:12785494delG ENST00000332530.3 + 3 600 c.374delG c.(373-375)ttfs p.C125fs AADACL3_ENST00000359318.5_Frame_Shift_Del_p.C195fs NM_001103169.1 NP_001096639.1 Q5VUY0 ADCL3_HUMAN arylacetamide deacetylase-like 3 195 hydrolase activity breast(1)|kidney(1)|large_intestine(2)|lung(8)|ovary(1)|prostate(1)|skin(1) 15 Ovarian(185;0.249) Lung NSC(185;8.27e-05)|all_lung(284;9.47e-05)|Renal(390;0.000147)|Colorectal(325;0.000583)|Breast(348;0.000596)|Ovarian(437;0.00965)|Hepatocellular(190;0.0245)|Myeloproliferative disorder(586;0.0255) UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;6.13e-06)|COAD - Colon adenocarcinoma(227;0.000274)|BRCA - Breast invasive adenocarcinoma(304;0.000311)|Kidney(185;0.00217)|KIRC - Kidney renal clear cell carcinoma(229;0.00579)|STAD - Stomach adenocarcinoma(313;0.00743)|READ - Rectum adenocarcinoma(331;0.0649) ATCTGCTACTGTTTTTTTCAA 0.458 7 735 --- --- --- --- SNHG12 0 broad.mit.edu 37 1 28906820 28906820 + RNA DEL A A - rs11325748 TCGA-FB-AAQ1-01A-12D-A40W-08 TCGA-FB-AAQ1-11A-11D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx e8f0e3bc-8015-4853-bd15-5c71403806f7 89c6ffd7-52a4-4066-b5bb-e826b90217af g.chr1:28906820delA ENST00000488745.1 - 0 1100 SNHG12_ENST00000483436.1_RNA|SNHG12_ENST00000531126.1_RNA|SNHG12_ENST00000475441.1_RNA actccgtctcaaaaaaaaaaa 0.493 7 35 --- --- --- --- ZRANB2 9406 broad.mit.edu 37 1 71532487 71532487 + Frame_Shift_Del DEL T T - TCGA-FB-AAQ1-01A-12D-A40W-08 TCGA-FB-AAQ1-11A-11D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx e8f0e3bc-8015-4853-bd15-5c71403806f7 89c6ffd7-52a4-4066-b5bb-e826b90217af g.chr1:71532487delT ENST00000370920.3 - 9 1202 c.901delA c.(901-903)gafs p.R302fs ZRANB2_ENST00000477096.1_5'UTR|ZRANB2-AS1_ENST00000450461.1_RNA|ZRANB2_ENST00000254821.6_Frame_Shift_Del_p.R302fs|ZRANB2-AS1_ENST00000426999.1_RNA NM_203350.2 NP_976225.1 O95218 ZRAB2_HUMAN zinc finger, RAN-binding domain containing 2 302 Required for nuclear targeting. mRNA processing|RNA splicing nucleus protein binding|RNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding p.R301*(1) breast(1)|central_nervous_system(1)|cervix(1)|endometrium(1)|large_intestine(4)|lung(4)|ovary(2)|stomach(1) 15 CTTGTTCGTCTTTTTTTGCGA 0.383 7 581 --- --- --- --- AGL 178 broad.mit.edu 37 1 100378028 100378028 + Frame_Shift_Del DEL A A - TCGA-FB-AAQ1-01A-12D-A40W-08 TCGA-FB-AAQ1-11A-11D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx e8f0e3bc-8015-4853-bd15-5c71403806f7 89c6ffd7-52a4-4066-b5bb-e826b90217af g.chr1:100378028delA ENST00000294724.4 + 29 4382 c.3904delA c.(3904-3906)aafs p.K1303fs AGL_ENST00000370161.2_Frame_Shift_Del_p.K1287fs|AGL_ENST00000361522.4_Frame_Shift_Del_p.K1286fs|AGL_ENST00000361915.3_Frame_Shift_Del_p.K1303fs|AGL_ENST00000361302.3_Frame_Shift_Del_p.K1287fs|AGL_ENST00000370163.3_Frame_Shift_Del_p.K1303fs|AGL_ENST00000370165.3_Frame_Shift_Del_p.K1303fs NM_000028.2 NP_000019.2 P35573 GDE_HUMAN amylo-alpha-1, 6-glucosidase, 4-alpha-glucanotransferase 1303 glucose metabolic process|glycogen biosynthetic process|glycogen catabolic process cytosol|isoamylase complex|nucleus 4-alpha-glucanotransferase activity|amylo-alpha-1,6-glucosidase activity|cation binding NS(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(6)|large_intestine(9)|lung(35)|ovary(1)|prostate(4)|skin(3)|urinary_tract(1) 69 all_epithelial(167;2.2e-06)|all_lung(203;0.000295)|Lung NSC(277;0.00131) Epithelial(280;0.15)|COAD - Colon adenocarcinoma(174;0.151)|Lung(183;0.209)|all cancers(265;0.237) GGAATTATCCAAAAAAAATAT 0.323 7 369 --- --- --- --- BCL9 607 broad.mit.edu 37 1 147091501 147091501 + Frame_Shift_Del DEL C C - TCGA-FB-AAQ1-01A-12D-A40W-08 TCGA-FB-AAQ1-11A-11D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx e8f0e3bc-8015-4853-bd15-5c71403806f7 89c6ffd7-52a4-4066-b5bb-e826b90217af g.chr1:147091501delC ENST00000234739.3 + 8 2280 c.1540delC c.(1540-1542)ccfs p.P517fs NM_004326.2 NP_004317.2 O00512 BCL9_HUMAN B-cell CLL/lymphoma 9 517 Poly-Pro.|Pro-rich. Wnt receptor signaling pathway nucleus protein binding breast(1)|large_intestine(2)|ovary(2)|skin(1)|upper_aerodigestive_tract(1) 7 all_hematologic(923;0.115) GGTCCGAGGACCCCCCCCTCC 0.582 T """IGH@, IGL@""" B-ALL 9 664 --- --- --- --- PVRL4 81607 broad.mit.edu 37 1 161059028 161059030 + In_Frame_Del DEL AGC AGC - TCGA-FB-AAQ1-01A-12D-A40W-08 TCGA-FB-AAQ1-11A-11D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx e8f0e3bc-8015-4853-bd15-5c71403806f7 89c6ffd7-52a4-4066-b5bb-e826b90217af g.chr1:161059028_161059030delAGC ENST00000368012.3 - 1 359_361 c.57_59delGCT c.(55-60)cta>ct p.LL21del NM_030916.2 NP_112178.2 Q96NY8 PVRL4_HUMAN poliovirus receptor-related 4 21 adherens junction organization|cell adhesion|cell junction assembly adherens junction|extracellular region|integral to membrane breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(9)|ovary(2)|urinary_tract(1) 20 all_cancers(52;8.9e-20)|Breast(13;0.00188)|all_hematologic(112;0.093) BRCA - Breast invasive adenocarcinoma(70;0.00165) TGCCAGCAGTAGCAGCAGCAGCA 0.567 12 616 --- --- --- --- KCTD3 51133 broad.mit.edu 37 1 215747170 215747171 + Frame_Shift_Ins INS - - T TCGA-FB-AAQ1-01A-12D-A40W-08 TCGA-FB-AAQ1-11A-11D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx e8f0e3bc-8015-4853-bd15-5c71403806f7 89c6ffd7-52a4-4066-b5bb-e826b90217af g.chr1:215747170_215747171insT ENST00000259154.4 + 2 419_420 c.125_126insT c.(124-126)tttfs p.F42fs NM_016121.3 NP_057205.2 Q9Y597 KCTD3_HUMAN potassium channel tetramerization domain containing 3 42 BTB. voltage-gated potassium channel complex protein binding|voltage-gated potassium channel activity breast(4)|endometrium(2)|kidney(1)|large_intestine(5)|lung(16)|ovary(3)|prostate(1)|skin(1) 33 all cancers(67;0.0164)|OV - Ovarian serous cystadenocarcinoma(81;0.019)|GBM - Glioblastoma multiforme(131;0.0862)|Epithelial(68;0.13) ATTCCAGATTCTTTTTTTTCCA 0.228 8 817 --- --- --- --- MTR 4548 broad.mit.edu 37 1 237024474 237024474 + Frame_Shift_Del DEL A A - TCGA-FB-AAQ1-01A-12D-A40W-08 TCGA-FB-AAQ1-11A-11D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx e8f0e3bc-8015-4853-bd15-5c71403806f7 89c6ffd7-52a4-4066-b5bb-e826b90217af g.chr1:237024474delA ENST00000366577.5 + 20 2487 c.2093delA c.(2092-2094)cafs p.Q698fs MTR_ENST00000535889.1_Intron NM_000254.2 NP_000245.2 Q99707 METH_HUMAN 5-methyltetrahydrofolate-homocysteine methyltransferase 698 B12-binding N-terminal. nervous system development|xenobiotic metabolic process cytosol cobalamin binding|homocysteine S-methyltransferase activity|methionine synthase activity|protein binding|zinc ion binding breast(4)|central_nervous_system(1)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(8)|lung(30)|ovary(1)|pancreas(1)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(1) 67 Ovarian(103;0.0634)|Breast(184;0.221) all_cancers(173;2.79e-22)|all_epithelial(177;4.84e-14)|Breast(1374;0.00123)|Prostate(94;0.0181)|Lung SC(1967;0.0262)|Acute lymphoblastic leukemia(190;0.117) OV - Ovarian serous cystadenocarcinoma(106;0.0106) KIRC - Kidney renal clear cell carcinoma(1967;0.248) Hydroxocobalamin(DB00200)|L-Methionine(DB00134)|Tetrahydrofolic acid(DB00116) AGGTTAAACCAAAAAAAATAT 0.308 9 374 --- --- --- --- OR2T2 401992 broad.mit.edu 37 1 248616705 248616711 + Frame_Shift_Del DEL TGCTGCG TGCTGCG - TCGA-FB-AAQ1-01A-12D-A40W-08 TCGA-FB-AAQ1-11A-11D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx e8f0e3bc-8015-4853-bd15-5c71403806f7 89c6ffd7-52a4-4066-b5bb-e826b90217af g.chr1:248616705_248616711delTGCTGCG ENST00000342927.3 + 1 629_635 c.607_613delTGCTGCG c.(607-615)tgfs p.CCV203fs NM_001004136.1 NP_001004136.1 Q6IF00 OR2T2_HUMAN olfactory receptor, family 2, subfamily T, member 2 203 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity cervix(1)|endometrium(5)|kidney(1)|large_intestine(2)|lung(21)|ovary(1)|skin(5)|upper_aerodigestive_tract(1) 37 all_cancers(71;0.000108)|all_epithelial(71;1.03e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136) OV - Ovarian serous cystadenocarcinoma(106;0.0265) GATGTATGCCTGCTGCGTGCTGATGCT 0.527 7 309 --- --- --- --- ASXL2 55252 broad.mit.edu 37 2 26022304 26022306 + In_Frame_Del DEL CTG CTG - TCGA-FB-AAQ1-01A-12D-A40W-08 TCGA-FB-AAQ1-11A-11D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx e8f0e3bc-8015-4853-bd15-5c71403806f7 89c6ffd7-52a4-4066-b5bb-e826b90217af 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_ENST00000272341.4_5'UTR|ASXL2_ENST00000497092.1_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 7 640 --- --- --- --- RTN4 57142 broad.mit.edu 37 2 55253745 55253746 + Frame_Shift_Ins INS - - T TCGA-FB-AAQ1-01A-12D-A40W-08 TCGA-FB-AAQ1-11A-11D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx e8f0e3bc-8015-4853-bd15-5c71403806f7 89c6ffd7-52a4-4066-b5bb-e826b90217af g.chr2:55253745_55253746insT ENST00000337526.6 - 3 1732_1733 c.1489_1490insA c.(1489-1491)agafs p.R497fs RTN4_ENST00000354474.6_Frame_Shift_Ins_p.R265fs|RTN4_ENST00000402434.2_Intron|RTN4_ENST00000394611.2_Frame_Shift_Ins_p.R291fs|RTN4_ENST00000405240.1_Frame_Shift_Ins_p.R291fs|RTN4_ENST00000357376.3_Frame_Shift_Ins_p.R291fs|RTN4_ENST00000404909.1_Frame_Shift_Ins_p.R291fs|RTN4_ENST00000357732.4_Intron|RTN4_ENST00000317610.7_Intron NM_020532.4 NP_065393.1 Q9NQC3 RTN4_HUMAN reticulon 4 497 apoptosis|axonal fasciculation|cerebral cortex radial glia guided migration|endoplasmic reticulum tubular network organization|negative regulation of anti-apoptosis|negative regulation of axon extension|nerve growth factor receptor signaling pathway|regulation of apoptosis|regulation of branching morphogenesis of a nerve|regulation of cell migration integral to endoplasmic reticulum membrane|nuclear envelope|plasma membrane protein binding NS(2)|breast(4)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(11)|lung(9)|ovary(2)|prostate(1)|skin(1)|stomach(1) 36 CTTTTCTTCTATTTTTTTTTCA 0.381 9 329 --- --- --- --- GCC2 9648 broad.mit.edu 37 2 109087883 109087884 + Frame_Shift_Ins INS - - A TCGA-FB-AAQ1-01A-12D-A40W-08 TCGA-FB-AAQ1-11A-11D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx e8f0e3bc-8015-4853-bd15-5c71403806f7 89c6ffd7-52a4-4066-b5bb-e826b90217af g.chr2:109087883_109087884insA ENST00000309863.6 + 6 2812_2813 c.2098_2099insA c.(2098-2100)aaafs p.K700fs NM_181453.3 NP_852118.1 Q8IWJ2 GCC2_HUMAN GRIP and coiled-coil domain containing 2 700 Golgi ribbon formation|late endosome to Golgi transport|microtubule anchoring|microtubule organizing center organization|protein localization in Golgi apparatus|protein targeting to lysosome|recycling endosome to Golgi transport|regulation of protein exit from endoplasmic reticulum membrane|trans-Golgi network identical protein binding breast(8)|central_nervous_system(1)|endometrium(2)|kidney(5)|large_intestine(10)|lung(19)|ovary(2)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(3) 54 ACTCAGTTCAGAAAAAAAACAG 0.307 15 1054 --- --- --- --- EPC2 26122 broad.mit.edu 37 2 149447828 149447829 + Frame_Shift_Ins INS - - A TCGA-FB-AAQ1-01A-12D-A40W-08 TCGA-FB-AAQ1-11A-11D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx e8f0e3bc-8015-4853-bd15-5c71403806f7 89c6ffd7-52a4-4066-b5bb-e826b90217af g.chr2:149447828_149447829insA ENST00000258484.6 + 2 233_234 c.199_200insA c.(199-201)aaafs p.K67fs EPC2_ENST00000409654.1_Frame_Shift_Ins_p.K67fs NM_015630.3 NP_056445.3 Q52LR7 EPC2_HUMAN enhancer of polycomb homolog 2 (Drosophila) 67 chromatin modification|DNA repair|regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(5)|ovary(1)|pancreas(1)|prostate(1) 13 BRCA - Breast invasive adenocarcinoma(221;0.0516) AGTGTTTAGAGAAAAAAAAGAG 0.366 9 382 --- --- --- --- XPC 7508 broad.mit.edu 37 3 14219966 14219968 + Splice_Site DEL CCT CCT - rs72561774 TCGA-FB-AAQ1-01A-12D-A40W-08 TCGA-FB-AAQ1-11A-11D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx e8f0e3bc-8015-4853-bd15-5c71403806f7 89c6ffd7-52a4-4066-b5bb-e826b90217af g.chr3:14219966_14219968delCCT ENST00000285021.7 - 1 315_317 c.103_splice c.e1+1 p.ED34_splice XPC_ENST00000449060.2_Splice_Site_p.ED34_splice|LSM3_ENST00000306024.3_5'UTR NM_001145769.1|NM_004628.4 NP_001139241.1|NP_004619.3 Q01831 XPC_HUMAN xeroderma pigmentosum, complementation group C 34 Glu-rich (acidic).|Poly-Glu. nucleotide-excision repair, DNA damage recognition|nucleotide-excision repair, DNA damage removal cytoplasm|nucleoplasm|XPC complex bubble DNA binding|damaged DNA binding|loop DNA binding|protein binding|single-stranded DNA binding p.E34delE(1) NS(1)|breast(2)|endometrium(1)|kidney(3)|large_intestine(4)|lung(5)|ovary(3)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 22 TCGCTCTCACCCTCCTCCTCCTC 0.734 """Mis, N, F, S""" """skin basal cell, skin squamous cell, melanoma""" Nucleotide excision repair (NER) Xeroderma Pigmentosum 9 242 --- --- --- --- NKTR 4820 broad.mit.edu 37 3 42680269 42680271 + In_Frame_Del DEL GAG GAG - TCGA-FB-AAQ1-01A-12D-A40W-08 TCGA-FB-AAQ1-11A-11D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx e8f0e3bc-8015-4853-bd15-5c71403806f7 89c6ffd7-52a4-4066-b5bb-e826b90217af g.chr3:42680269_42680271delGAG ENST00000232978.8 + 13 3261_3263 c.3073_3075delGAG c.(3073-3075)del p.E1029del RP4-613B23.1_ENST00000438017.1_RNA|RP4-613B23.1_ENST00000434363.1_RNA|RP4-613B23.1_ENST00000445452.1_RNA NM_005385.3 NP_005376.2 P30414 NKTR_HUMAN natural killer-tumor recognition sequence 1029 protein folding membrane cyclosporin A binding|peptidyl-prolyl cis-trans isomerase activity breast(3)|central_nervous_system(1)|endometrium(7)|kidney(2)|large_intestine(6)|lung(10)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(4) 41 KIRC - Kidney renal clear cell carcinoma(284;0.24) ATTTGGTGAAGAGGAGGAGGAGG 0.355 7 481 --- --- --- --- LIMD1 8994 broad.mit.edu 37 3 45636543 45636545 + In_Frame_Del DEL CAG CAG - TCGA-FB-AAQ1-01A-12D-A40W-08 TCGA-FB-AAQ1-11A-11D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx e8f0e3bc-8015-4853-bd15-5c71403806f7 89c6ffd7-52a4-4066-b5bb-e826b90217af g.chr3:45636543_45636545delCAG ENST00000273317.4 + 1 193_195 c.172_174delCAG c.(172-174)del p.Q63del LIMD1_ENST00000440097.1_In_Frame_Del_p.Q63del|LIMD1_ENST00000465039.1_Intron NM_014240.2 NP_055055.1 Q9UGP4 LIMD1_HUMAN LIM domains containing 1 63 Mediates nuclear export. cytoplasmic mRNA processing body assembly|gene silencing by miRNA|multicellular organismal development|negative regulation of transcription, DNA-dependent|signal transduction|transcription, DNA-dependent cytoplasmic mRNA processing body|nucleus|RNA-induced silencing complex protein binding|zinc ion binding endometrium(2)|kidney(1)|large_intestine(1)|lung(4)|ovary(1)|skin(1) 10 BRCA - Breast invasive adenocarcinoma(193;0.011)|KIRC - Kidney renal clear cell carcinoma(197;0.0264)|Kidney(197;0.0315) AATCCACCTCCAGCAGCAGCAGC 0.626 9 155 --- --- --- --- BSN 8927 broad.mit.edu 37 3 49662573 49662574 + In_Frame_Ins INS - - GTA TCGA-FB-AAQ1-01A-12D-A40W-08 TCGA-FB-AAQ1-11A-11D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx e8f0e3bc-8015-4853-bd15-5c71403806f7 89c6ffd7-52a4-4066-b5bb-e826b90217af g.chr3:49662573_49662574insGTA ENST00000296452.4 + 2 504_505 c.390_391insGTA c.(388-393)cataga>caGTAtaga p.130_130H>QY NM_003458.3 NP_003449.2 Q9UPA5 BSN_HUMAN bassoon presynaptic cytomatrix protein 130 synaptic transmission cell junction|cytoplasm|cytoskeleton|nucleus|synaptosome metal ion binding breast(8)|central_nervous_system(2)|cervix(2)|endometrium(16)|kidney(3)|large_intestine(17)|lung(37)|ovary(7)|pancreas(1)|prostate(4)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1) 106 BRCA - Breast invasive adenocarcinoma(193;6.66e-05)|KIRC - Kidney renal clear cell carcinoma(197;0.0032)|Kidney(197;0.00336) GGACGCTGCAGGTAGACAGCAG 0.653 33 138 --- --- --- --- CACNA1D 776 broad.mit.edu 37 3 53529193 53529195 + Translation_Start_Site DEL GAT GAT - TCGA-FB-AAQ1-01A-12D-A40W-08 TCGA-FB-AAQ1-11A-11D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx e8f0e3bc-8015-4853-bd15-5c71403806f7 89c6ffd7-52a4-4066-b5bb-e826b90217af g.chr3:53529193_53529195delGAT ENST00000288139.3 + 0 118_120 CACNA1D_ENST00000422281.2_Start_Codon_Del|CACNA1D_ENST00000350061.5_Start_Codon_Del NM_000720.2 NP_000711.1 Q01668 CAC1D_HUMAN calcium channel, voltage-dependent, L type, alpha 1D subunit axon guidance|energy reserve metabolic process|regulation of insulin secretion voltage-gated calcium channel complex voltage-gated calcium channel activity breast(3)|central_nervous_system(9)|cervix(2)|endometrium(11)|kidney(7)|large_intestine(13)|liver(1)|lung(29)|ovary(6)|prostate(2)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1) 90 BRCA - Breast invasive adenocarcinoma(193;0.00029)|KIRC - Kidney renal clear cell carcinoma(284;0.0145)|Kidney(284;0.0175)|OV - Ovarian serous cystadenocarcinoma(275;0.0613) Verapamil(DB00661) aatgttcgtGgatgatgatgatg 0.581 7 480 --- --- --- --- FILIP1L 11259 broad.mit.edu 37 3 99648785 99648785 + Frame_Shift_Del DEL T T - TCGA-FB-AAQ1-01A-12D-A40W-08 TCGA-FB-AAQ1-11A-11D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx e8f0e3bc-8015-4853-bd15-5c71403806f7 89c6ffd7-52a4-4066-b5bb-e826b90217af g.chr3:99648785delT ENST00000331335.5 - 3 811 c.341delA c.(340-342)agfs p.K114fs CMSS1_ENST00000421999.2_Intron|FILIP1L_ENST00000354552.3_Frame_Shift_Del_p.K114fs|FILIP1L_ENST00000398326.2_Frame_Shift_Del_p.K114fs|CMSS1_ENST00000496116.1_Intron NM_001042459.1 NP_001035924.1 Q4L180 FIL1L_HUMAN filamin A interacting protein 1-like 114 cytoplasm|membrane|myosin complex|nucleus breast(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(13)|lung(11)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1) 35 CTCTAACACCTTTTTTGGAGT 0.443 8 577 --- --- --- --- LNP1 348801 broad.mit.edu 37 3 100148586 100148588 + In_Frame_Del DEL GAT GAT - TCGA-FB-AAQ1-01A-12D-A40W-08 TCGA-FB-AAQ1-11A-11D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx e8f0e3bc-8015-4853-bd15-5c71403806f7 89c6ffd7-52a4-4066-b5bb-e826b90217af g.chr3:100148586_100148588delGAT ENST00000383693.3 + 2 1293_1295 c.13_15delGAT c.(13-15)del p.D10del LNP1_ENST00000489752.1_In_Frame_Del_p.D10del NM_001085451.1 NP_001078920.1 A1A4G5 LNP1_HUMAN leukemia NUP98 fusion partner 1 10 Poly-Asp. cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(1) 6 GGAGCACAAAGATGATGATGATG 0.507 15 1100 --- --- --- --- WWTR1 25937 broad.mit.edu 37 3 149260194 149260196 + In_Frame_Del DEL CTG CTG - TCGA-FB-AAQ1-01A-12D-A40W-08 TCGA-FB-AAQ1-11A-11D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx e8f0e3bc-8015-4853-bd15-5c71403806f7 89c6ffd7-52a4-4066-b5bb-e826b90217af g.chr3:149260194_149260196delCTG ENST00000465804.1 - 5 953_955 c.697_699delCAG c.(697-699)del p.Q233del WWTR1_ENST00000467467.1_In_Frame_Del_p.Q233del|WWTR1_ENST00000360632.3_In_Frame_Del_p.Q233del NM_001168278.1 NP_001161750.1 Q9GZV5 WWTR1_HUMAN WW domain containing transcription regulator 1 233 Gln-rich. hippo signaling cascade|negative regulation of canonical Wnt receptor signaling pathway|negative regulation of catenin import into nucleus|negative regulation of protein kinase activity|negative regulation of protein phosphorylation|positive regulation of cell proliferation|positive regulation of epithelial to mesenchymal transition|regulation of SMAD protein import into nucleus|stem cell division|transcription, DNA-dependent cytoplasm transcription coactivator activity breast(5)|cervix(1)|endometrium(2)|large_intestine(2)|lung(10)|ovary(1)|prostate(1)|skin(1) 23 LUSC - Lung squamous cell carcinoma(72;0.0378)|Lung(72;0.048) GCCGCAGTTTCTGCTGCTGCTGC 0.581 T CAMTA1 epitheliod hemangioendothelioma 8 310 --- --- --- --- PHC3 80012 broad.mit.edu 37 3 169896635 169896637 + In_Frame_Del DEL TGG TGG - TCGA-FB-AAQ1-01A-12D-A40W-08 TCGA-FB-AAQ1-11A-11D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx e8f0e3bc-8015-4853-bd15-5c71403806f7 89c6ffd7-52a4-4066-b5bb-e826b90217af g.chr3:169896635_169896637delTGG ENST00000494943.1 - 2 136_138 c.68_70delCCA c.(67-72)atc>a p.TI23del PHC3_ENST00000474275.1_In_Frame_Del_p.TI23del|PHC3_ENST00000467570.1_In_Frame_Del_p.TI35del|PHC3_ENST00000495893.1_In_Frame_Del_p.TI35del|PHC3_ENST00000497658.1_In_Frame_Del_p.TI35del|PHC3_ENST00000481639.1_In_Frame_Del_p.TI35del Q8NDX5 PHC3_HUMAN polyhomeotic homolog 3 (Drosophila) 23 Poly-Thr. multicellular organismal development PcG protein complex DNA binding|zinc ion binding breast(1)|central_nervous_system(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(12)|ovary(1)|upper_aerodigestive_tract(2) 26 all_cancers(22;2.67e-22)|all_epithelial(15;4.73e-27)|all_lung(20;6.31e-17)|Lung NSC(18;2.61e-16)|Ovarian(172;0.000337)|Breast(254;0.169) Lung(28;2.71e-13)|STAD - Stomach adenocarcinoma(35;0.0655) GAAgtggtgatggtggtggtggt 0.493 7 1294 --- --- --- --- TMEM175 84286 broad.mit.edu 37 4 946206 946207 + Frame_Shift_Del DEL TG TG - TCGA-FB-AAQ1-01A-12D-A40W-08 TCGA-FB-AAQ1-11A-11D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx e8f0e3bc-8015-4853-bd15-5c71403806f7 89c6ffd7-52a4-4066-b5bb-e826b90217af g.chr4:946206_946207delTG ENST00000264771.4 + 7 615_616 c.430_431delTG c.(430-432)tfs p.C144fs TMEM175_ENST00000508204.1_Frame_Shift_Del_p.C62fs|TMEM175_ENST00000515740.1_Frame_Shift_Del_p.C28fs|TMEM175_ENST00000504180.1_3'UTR NM_032326.2 NP_115702.1 Q9BSA9 TM175_HUMAN transmembrane protein 175 144 integral to membrane NS(1)|endometrium(1)|large_intestine(2)|lung(6)|pancreas(1)|upper_aerodigestive_tract(3) 14 OV - Ovarian serous cystadenocarcinoma(23;0.0158) CTTCTTGTTCTGTGTGTGTGTG 0.515 10 677 --- --- --- --- HGFAC 3083 broad.mit.edu 37 4 3443798 3443800 + In_Frame_Del DEL CTG CTG - TCGA-FB-AAQ1-01A-12D-A40W-08 TCGA-FB-AAQ1-11A-11D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx e8f0e3bc-8015-4853-bd15-5c71403806f7 89c6ffd7-52a4-4066-b5bb-e826b90217af 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 8 178 --- --- --- --- OTOP1 133060 broad.mit.edu 37 4 4228274 4228282 + In_Frame_Del DEL CCACAGCAG CCACAGCAG - rs111245977 TCGA-FB-AAQ1-01A-12D-A40W-08 TCGA-FB-AAQ1-11A-11D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx e8f0e3bc-8015-4853-bd15-5c71403806f7 89c6ffd7-52a4-4066-b5bb-e826b90217af g.chr4:4228274_4228282delCCACAGCAG ENST00000296358.4 - 1 334_342 c.310_318delCTGCTGTGG c.(310-318)del p.LLW104del NM_177998.1 NP_819056.1 Q7RTM1 OTOP1_HUMAN otopetrin 1 104 biomineral tissue development extracellular space|integral to membrane p.L104_W106delLLW(1) NS(1)|breast(1)|central_nervous_system(2)|endometrium(1)|kidney(2)|large_intestine(3)|liver(4)|lung(14)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(1) 34 UCEC - Uterine corpus endometrioid carcinoma (64;0.168) ACCACAGCATCCACAGCAGCTGCAGCAGC 0.727 12 77 --- --- --- --- WDFY3 23001 broad.mit.edu 37 4 85611708 85611709 + Frame_Shift_Del DEL CA CA - TCGA-FB-AAQ1-01A-12D-A40W-08 TCGA-FB-AAQ1-11A-11D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx e8f0e3bc-8015-4853-bd15-5c71403806f7 89c6ffd7-52a4-4066-b5bb-e826b90217af g.chr4:85611708_85611709delCA ENST00000322366.6 - 60 9669_9670 c.9262_9263delTG c.(9262-9264)gfs p.W3088fs WDFY3_ENST00000295888.4_Frame_Shift_Del_p.W3105fs Q8IZQ1 WDFY3_HUMAN WD repeat and FYVE domain containing 3 3105 cytoplasmic part|extrinsic to membrane|nuclear envelope 1-phosphatidylinositol binding|metal ion binding|protein binding breast(5)|central_nervous_system(5)|endometrium(15)|haematopoietic_and_lymphoid_tissue(3)|kidney(8)|large_intestine(32)|lung(50)|ovary(3)|prostate(5)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(2) 134 Hepatocellular(203;0.114) OV - Ovarian serous cystadenocarcinoma(123;0.000808) GCCCATCTCCCACACACACACA 0.510 7 311 --- --- --- --- PPP3CA 5530 broad.mit.edu 37 4 102117102 102117102 + Frame_Shift_Del DEL T T - TCGA-FB-AAQ1-01A-12D-A40W-08 TCGA-FB-AAQ1-11A-11D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx e8f0e3bc-8015-4853-bd15-5c71403806f7 89c6ffd7-52a4-4066-b5bb-e826b90217af g.chr4:102117102delT ENST00000394854.3 - 2 913 c.230delA c.(229-231)atfs p.N77fs PPP3CA_ENST00000323055.6_Frame_Shift_Del_p.N77fs|PPP3CA_ENST00000507176.1_Intron|PPP3CA_ENST00000512215.1_Frame_Shift_Del_p.N77fs|PPP3CA_ENST00000523694.2_Intron|PPP3CA_ENST00000394853.4_Frame_Shift_Del_p.N77fs NM_000944.4 NP_000935.1 Q08209 PP2BA_HUMAN protein phosphatase 3, catalytic subunit, alpha isozyme 77 Catalytic. protein dephosphorylation calcineurin complex|cytosol|nucleus calcium ion binding|calmodulin binding breast(1)|cervix(1)|endometrium(3)|large_intestine(4)|lung(8)|ovary(1)|skin(1)|urinary_tract(1) 20 OV - Ovarian serous cystadenocarcinoma(123;6.79e-08) ATCCAGCAAATTTTTTTCCTG 0.418 7 415 --- --- --- --- DDX60 55601 broad.mit.edu 37 4 169182016 169182016 + Splice_Site DEL A A - TCGA-FB-AAQ1-01A-12D-A40W-08 TCGA-FB-AAQ1-11A-11D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx e8f0e3bc-8015-4853-bd15-5c71403806f7 89c6ffd7-52a4-4066-b5bb-e826b90217af g.chr4:169182016delA ENST00000393743.3 - 25 3689 c.3398_splice c.e25+1 p.L1133_splice DDX60_ENST00000505393.1_5'UTR NM_017631.5 NP_060101.3 Q8IY21 DDX60_HUMAN DEAD (Asp-Glu-Ala-Asp) box polypeptide 60 1133 ATP binding|ATP-dependent helicase activity|RNA binding breast(1)|central_nervous_system(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(15)|liver(1)|lung(21)|ovary(1)|pancreas(2)|prostate(1)|skin(4)|urinary_tract(4) 63 Prostate(90;0.00876)|Renal(120;0.0183)|all_neural(102;0.0837)|Melanoma(52;0.132) GBM - Glioblastoma multiforme(119;0.0485) AATAACTTACAAAAAAAATAG 0.383 7 366 --- --- --- --- FGF10 2255 broad.mit.edu 37 5 44388715 44388717 + In_Frame_Del DEL AGC AGC - TCGA-FB-AAQ1-01A-12D-A40W-08 TCGA-FB-AAQ1-11A-11D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx e8f0e3bc-8015-4853-bd15-5c71403806f7 89c6ffd7-52a4-4066-b5bb-e826b90217af g.chr5:44388715_44388717delAGC ENST00000264664.4 - 1 182_184 c.68_70delGCT c.(67-72)ttt>t p.CF23del NM_004465.1 NP_004456.1 O15520 FGF10_HUMAN fibroblast growth factor 10 23 actin cytoskeleton reorganization|activation of MAPK activity|bud outgrowth involved in lung branching|ERK1 and ERK2 cascade|fibroblast growth factor receptor signaling pathway involved in mammary gland specification|insulin receptor signaling pathway|lacrimal gland development|lung saccule development|mesonephros development|negative regulation of cell cycle arrest|positive regulation of ATPase activity|positive regulation of cyclin-dependent protein kinase activity involved in G1/S|positive regulation of DNA repair|positive regulation of DNA replication|positive regulation of epithelial cell migration|positive regulation of epithelial cell proliferation involved in wound healing|positive regulation of ERK1 and ERK2 cascade|positive regulation of hair follicle cell proliferation|positive regulation of keratinocyte migration|positive regulation of keratinocyte proliferation|positive regulation of lymphocyte proliferation|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of Ras protein signal transduction|positive regulation of transcription, DNA-dependent|positive regulation of urothelial cell proliferation|protein localization at cell surface|radial glial cell differentiation|regulation of saliva secretion|response to protein stimulus|secretion by lung epithelial cell involved in lung growth|tear secretion|thymus development|urothelial cell proliferation cell surface|extracellular space|nucleus|plasma membrane chemoattractant activity|growth factor activity|heparin binding|type 2 fibroblast growth factor receptor binding haematopoietic_and_lymphoid_tissue(1)|lung(11)|skin(1) 13 Lung NSC(6;1.12e-06) AGCAACAAAAAGCAGCAGCAGCA 0.537 7 258 --- --- --- --- THBS4 7060 broad.mit.edu 37 5 79372774 79372776 + In_Frame_Del DEL TGA TGA - TCGA-FB-AAQ1-01A-12D-A40W-08 TCGA-FB-AAQ1-11A-11D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx e8f0e3bc-8015-4853-bd15-5c71403806f7 89c6ffd7-52a4-4066-b5bb-e826b90217af g.chr5:79372774_79372776delTGA ENST00000350881.2 + 16 2179_2181 c.1989_1991delTGA c.(1987-1992)tgt>tg p.CD663del THBS4_ENST00000511733.1_In_Frame_Del_p.CD572del|CTD-2201I18.1_ENST00000514042.1_RNA|CTD-2201I18.1_ENST00000503007.1_RNA 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 12 1217 --- --- --- --- MSH3 4437 broad.mit.edu 37 5 79970915 79970915 + Frame_Shift_Del DEL A A - TCGA-FB-AAQ1-01A-12D-A40W-08 TCGA-FB-AAQ1-11A-11D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx e8f0e3bc-8015-4853-bd15-5c71403806f7 89c6ffd7-52a4-4066-b5bb-e826b90217af g.chr5:79970915delA ENST00000265081.6 + 7 1221 c.1141delA c.(1141-1143)aafs p.K383fs NM_002439.4 NP_002430.3 P20585 MSH3_HUMAN mutS homolog 3 383 maintenance of DNA repeat elements|meiotic mismatch repair|negative regulation of DNA recombination|positive regulation of helicase activity|reciprocal meiotic recombination|somatic recombination of immunoglobulin gene segments MutSbeta complex|nuclear chromosome ATP binding|DNA-dependent ATPase activity|double-strand/single-strand DNA junction binding|enzyme binding|loop DNA binding|Y-form DNA binding NS(1)|breast(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(12)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(2) 29 Lung NSC(167;0.00479)|all_lung(232;0.00507)|Ovarian(174;0.0261)|Breast(144;0.244) OV - Ovarian serous cystadenocarcinoma(54;2.38e-45)|Epithelial(54;1.58e-38)|all cancers(79;4.93e-33) TGTTAGGGACAAAAAAAAGGG 0.348 Mismatch excision repair (MMR) 14 742 --- --- --- --- SPRY4 81848 broad.mit.edu 37 5 141694361 141694363 + In_Frame_Del DEL TGC TGC - TCGA-FB-AAQ1-01A-12D-A40W-08 TCGA-FB-AAQ1-11A-11D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx e8f0e3bc-8015-4853-bd15-5c71403806f7 89c6ffd7-52a4-4066-b5bb-e826b90217af g.chr5:141694361_141694363delTGC ENST00000344120.4 - 3 566_568 c.380_382delGCA c.(379-384)aca>a p.ST127del SPRY4_ENST00000434127.2_In_Frame_Del_p.ST104del NM_030964.3 NP_112226.2 Q9C004 SPY4_HUMAN sprouty homolog 4 (Drosophila) 104 multicellular organismal development cytoplasm|ruffle membrane protein binding breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(3)|lung(7)|ovary(1) 18 all_hematologic(541;0.118) KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191) TCAGAGGATGTGCTGCTGCTGCT 0.660 Testicular Cancer, Familial Clustering of 9 577 --- --- --- --- HLA-G 3135 broad.mit.edu 37 6 29797195 29797196 + Splice_Site INS - - C TCGA-FB-AAQ1-01A-12D-A40W-08 TCGA-FB-AAQ1-11A-11D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx e8f0e3bc-8015-4853-bd15-5c71403806f7 89c6ffd7-52a4-4066-b5bb-e826b90217af g.chr6:29797195_29797196insC ENST00000428701.1 + 5 798_799 c.619_splice c.e5-1 p.A207_splice HLA-G_ENST00000376818.3_Splice_Site_p.T115_splice|HLA-G_ENST00000360323.6_Splice_Site_p.A207_splice|HLA-G_ENST00000376815.3_Intron|HLA-G_ENST00000376828.2_Splice_Site_p.A212_splice NM_002127.5 NP_002118.1 P17693 HLAG_HUMAN major histocompatibility complex, class I, G 207 Alpha-3. antigen processing and presentation of peptide antigen via MHC class I|cellular defense response|interferon-gamma-mediated signaling pathway|regulation of immune response|type I interferon-mediated signaling pathway integral to membrane|MHC class I protein complex MHC class I receptor activity central_nervous_system(1)|endometrium(1)|large_intestine(5)|lung(4)|ovary(3)|pancreas(1)|prostate(5)|skin(1) 21 TTCCTTTCAGACCCCCCCAAGA 0.540 9 824 --- --- --- --- ZNRD1-AS1 0 broad.mit.edu 37 6 29977389 29977393 + RNA DEL CTTCT CTTCT - TCGA-FB-AAQ1-01A-12D-A40W-08 TCGA-FB-AAQ1-11A-11D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx e8f0e3bc-8015-4853-bd15-5c71403806f7 89c6ffd7-52a4-4066-b5bb-e826b90217af g.chr6:29977389_29977393delCTTCT ENST00000376797.3 - 0 731 ZNRD1-AS1_ENST00000448093.1_RNA|HLA-J_ENST00000462773.1_RNA|ZNRD1-AS1_ENST00000425604.1_RNA|ZNRD1-AS1_ENST00000420251.1_RNA AGAACCCTGACTTCTCTTTCTGCAA 0.488 21 179 --- --- --- --- PPP1R10 5514 broad.mit.edu 37 6 30570264 30570266 + In_Frame_Del DEL GGA GGA - TCGA-FB-AAQ1-01A-12D-A40W-08 TCGA-FB-AAQ1-11A-11D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx e8f0e3bc-8015-4853-bd15-5c71403806f7 89c6ffd7-52a4-4066-b5bb-e826b90217af g.chr6:30570264_30570266delGGA ENST00000376511.2 - 19 2712_2714 c.2160_2162delTCC c.(2158-2163)cca>cc p.PP720del NM_002714.3 NP_002705.2 Q96QC0 PP1RA_HUMAN protein phosphatase 1, regulatory subunit 10 720 Gly-rich. protein import into nucleus|transcription, DNA-dependent PTW/PP1 phosphatase complex DNA binding|protein phosphatase inhibitor activity|RNA binding|zinc ion binding cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(2)|lung(9)|ovary(2)|prostate(3)|skin(1) 25 GCCTCGGAATggaggaggaggag 0.670 8 271 --- --- --- --- AARS2 57505 broad.mit.edu 37 6 44269188 44269189 + Frame_Shift_Ins INS - - T TCGA-FB-AAQ1-01A-12D-A40W-08 TCGA-FB-AAQ1-11A-11D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx e8f0e3bc-8015-4853-bd15-5c71403806f7 89c6ffd7-52a4-4066-b5bb-e826b90217af g.chr6:44269188_44269189insT ENST00000244571.4 - 20 2613_2614 c.2611_2612insA c.(2611-2613)tcafs p.S871fs TMEM151B_ENST00000438774.2_Intron NM_020745.3 NP_065796.1 Q5JTZ9 SYAM_HUMAN alanyl-tRNA synthetase 2, mitochondrial 871 alanyl-tRNA aminoacylation mitochondrion alanine-tRNA ligase activity|ATP binding|metal ion binding|tRNA binding breast(1)|central_nervous_system(1)|cervix(2)|endometrium(2)|kidney(1)|large_intestine(7)|lung(11)|ovary(3)|prostate(3)|skin(2)|stomach(1) 34 Hepatocellular(11;0.00908)|all_lung(25;0.0101)|Ovarian(13;0.0273) Colorectal(64;0.00337)|COAD - Colon adenocarcinoma(64;0.00536) L-Alanine(DB00160) CAGCTCCTGAGTTTTCTTTGCA 0.584 8 620 --- --- --- --- LINC00271 0 broad.mit.edu 37 6 135853918 135853920 + RNA DEL GAG GAG - TCGA-FB-AAQ1-01A-12D-A40W-08 TCGA-FB-AAQ1-11A-11D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx e8f0e3bc-8015-4853-bd15-5c71403806f7 89c6ffd7-52a4-4066-b5bb-e826b90217af g.chr6:135853918_135853920delGAG ENST00000421378.2 + 0 147 NR_026805.1 ggaagaggaagaggaggaggaag 0.478 23 14 --- --- --- --- ZDHHC4 55146 broad.mit.edu 37 7 6621848 6621849 + Frame_Shift_Ins INS - - T rs34551853 TCGA-FB-AAQ1-01A-12D-A40W-08 TCGA-FB-AAQ1-11A-11D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx e8f0e3bc-8015-4853-bd15-5c71403806f7 89c6ffd7-52a4-4066-b5bb-e826b90217af g.chr7:6621848_6621849insT ENST00000396706.2 + 5 779_780 c.336_337insT c.(334-339)ctttttfs p.LF112fs ZDHHC4_ENST00000405731.3_Frame_Shift_Ins_p.LF112fs|ZDHHC4_ENST00000396709.1_Frame_Shift_Ins_p.LF112fs|AC079742.4_ENST00000434951.1_RNA|ZDHHC4_ENST00000335965.6_Frame_Shift_Ins_p.LF112fs|ZDHHC4_ENST00000396707.2_Frame_Shift_Ins_p.LF112fs|ZDHHC4_ENST00000396713.2_Frame_Shift_Ins_p.LF112fs Q9NPG8 ZDHC4_HUMAN zinc finger, DHHC-type containing 4 112 integral to membrane acyltransferase activity|zinc ion binding p.F115fs*3(2) breast(2)|endometrium(2)|kidney(1)|large_intestine(3)|lung(5)|ovary(1)|pancreas(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1) 19 Ovarian(82;0.232) UCEC - Uterine corpus endometrioid carcinoma (126;0.1) GTGTAAACCTGTTTTTTTTCAC 0.450 10 944 --- --- --- --- OGDH 4967 broad.mit.edu 37 7 44684936 44684936 + Frame_Shift_Del DEL T T - TCGA-FB-AAQ1-01A-12D-A40W-08 TCGA-FB-AAQ1-11A-11D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx e8f0e3bc-8015-4853-bd15-5c71403806f7 89c6ffd7-52a4-4066-b5bb-e826b90217af g.chr7:44684936delT ENST00000222673.5 + 3 275 c.233delT c.(232-234)atfs p.I78fs OGDH_ENST00000543843.1_Frame_Shift_Del_p.I18fs|OGDH_ENST00000449767.1_Frame_Shift_Del_p.I78fs|OGDH_ENST00000444676.1_Frame_Shift_Del_p.I78fs|OGDH_ENST00000447398.1_Frame_Shift_Del_p.I78fs|OGDH_ENST00000443864.2_Frame_Shift_Del_p.I78fs|OGDH_ENST00000439616.2_Intron NM_002541.3 NP_002532.2 Q02218 ODO1_HUMAN oxoglutarate (alpha-ketoglutarate) dehydrogenase (lipoamide) 78 glycolysis|lysine catabolic process|tricarboxylic acid cycle mitochondrial matrix|mitochondrial membrane oxoglutarate dehydrogenase (succinyl-transferring) activity|thiamine pyrophosphate binding p.R81fs*19(1) breast(2)|endometrium(5)|kidney(2)|large_intestine(6)|lung(13)|ovary(1)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(4) 36 NADH(DB00157) TCATGGGACATTTTTTTTCGC 0.577 8 772 --- --- --- --- DTX2 113878 broad.mit.edu 37 7 76112249 76112249 + Frame_Shift_Del DEL A A - rs147779783 byFrequency TCGA-FB-AAQ1-01A-12D-A40W-08 TCGA-FB-AAQ1-11A-11D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx e8f0e3bc-8015-4853-bd15-5c71403806f7 89c6ffd7-52a4-4066-b5bb-e826b90217af g.chr7:76112249delA ENST00000324432.5 + 5 1203 c.693delA c.(691-693)ccfs p.P231fs DTX2_ENST00000307569.8_Frame_Shift_Del_p.P231fs|DTX2_ENST00000413936.2_Frame_Shift_Del_p.P231fs|DTX2_ENST00000446820.2_Frame_Shift_Del_p.P231fs|DTX2_ENST00000430490.2_Frame_Shift_Del_p.P231fs|DTX2_ENST00000446600.1_Frame_Shift_Del_p.P140fs NM_020892.2 NP_065943.2 Q86UW9 DTX2_HUMAN deltex homolog 2 (Drosophila) 231 Notch signaling pathway cytoplasm|nucleus protein binding|zinc ion binding NS(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(14)|ovary(1)|skin(1)|stomach(2) 27 AGCACCCCCCACACAGGACCG 0.657 7 1542 --- --- --- --- AKAP9 10142 broad.mit.edu 37 7 91671392 91671393 + Frame_Shift_Del DEL AG AG - TCGA-FB-AAQ1-01A-12D-A40W-08 TCGA-FB-AAQ1-11A-11D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx e8f0e3bc-8015-4853-bd15-5c71403806f7 89c6ffd7-52a4-4066-b5bb-e826b90217af g.chr7:91671392_91671393delAG ENST00000359028.2 + 20 5211_5212 c.4986_4987delAG c.(4984-4989)tcagfs p.SE1662fs AKAP9_ENST00000358100.2_Frame_Shift_Del_p.SE1662fs|AKAP9_ENST00000356239.3_Frame_Shift_Del_p.SE1650fs Q99996 AKAP9_HUMAN A kinase (PRKA) anchor protein 9 1662 G2/M transition of mitotic cell cycle|signal transduction|synaptic transmission|transport centrosome|cytosol|Golgi apparatus receptor binding NS(1)|autonomic_ganglia(2)|breast(14)|central_nervous_system(3)|cervix(1)|endometrium(13)|kidney(12)|large_intestine(35)|lung(49)|ovary(8)|prostate(6)|skin(8)|stomach(1)|urinary_tract(2) 155 all_cancers(62;2.46e-09)|all_epithelial(64;4.42e-08)|Breast(17;0.00206)|all_lung(186;0.185)|all_hematologic(106;0.215)|Lung NSC(181;0.249) STAD - Stomach adenocarcinoma(171;6.16e-05)|Lung(22;0.123)|LUSC - Lung squamous cell carcinoma(200;0.225) ACCTGGTTTCAGAGAGAGAGAG 0.411 T BRAF papillary thyroid 7 360 --- --- --- --- TRBV6-8 0 broad.mit.edu 37 7 142124496 142124497 + RNA INS - - G rs72463875 TCGA-FB-AAQ1-01A-12D-A40W-08 TCGA-FB-AAQ1-11A-11D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx e8f0e3bc-8015-4853-bd15-5c71403806f7 89c6ffd7-52a4-4066-b5bb-e826b90217af g.chr7:142124496_142124497insG ENST00000390376.2 - 0 49 AATCCACGCAAGGGCCCTGCCC 0.614 8 665 --- --- --- --- PCMTD1 115294 broad.mit.edu 37 8 52733063 52733063 + Frame_Shift_Del DEL T T - TCGA-FB-AAQ1-01A-12D-A40W-08 TCGA-FB-AAQ1-11A-11D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx e8f0e3bc-8015-4853-bd15-5c71403806f7 89c6ffd7-52a4-4066-b5bb-e826b90217af g.chr8:52733063delT ENST00000360540.5 - 7 1328 c.922delA c.(922-924)tgfs p.M308fs PCMTD1_ENST00000522514.1_Frame_Shift_Del_p.M308fs|PCMTD1_ENST00000519559.1_5'UTR|PCMTD1_ENST00000544451.1_Frame_Shift_Del_p.M232fs NM_052937.2 NP_443169.2 Q96MG8 PCMD1_HUMAN protein-L-isoaspartate (D-aspartate) O-methyltransferase domain containing 1 308 cytoplasm protein-L-isoaspartate (D-aspartate) O-methyltransferase activity NS(2)|endometrium(1)|kidney(3)|large_intestine(3)|lung(17)|prostate(2)|skin(8)|soft_tissue(1) 37 Lung NSC(129;0.0795)|all_lung(136;0.144) tcctcttccattttttcatcc 0.373 13 342 --- --- --- --- KIAA1462 57608 broad.mit.edu 37 10 30316501 30316503 + In_Frame_Del DEL CTG CTG - TCGA-FB-AAQ1-01A-12D-A40W-08 TCGA-FB-AAQ1-11A-11D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx e8f0e3bc-8015-4853-bd15-5c71403806f7 89c6ffd7-52a4-4066-b5bb-e826b90217af g.chr10:30316501_30316503delCTG ENST00000375377.1 - 3 2675_2677 c.2574_2576delCAG c.(2572-2577)agt>ag p.SS858del NM_020848.2 NP_065899.1 Q9P266 K1462_HUMAN KIAA1462 858 Ser-rich. breast(3)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(17)|lung(23)|ovary(6)|prostate(3)|skin(5)|upper_aerodigestive_tract(1) 75 ACTCTCCTCActgctgctgctgc 0.571 8 341 --- --- --- --- PCDH15 65217 broad.mit.edu 37 10 55587198 55587200 + In_Frame_Del DEL GGC GGC - rs12246234 TCGA-FB-AAQ1-01A-12D-A40W-08 TCGA-FB-AAQ1-11A-11D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx e8f0e3bc-8015-4853-bd15-5c71403806f7 89c6ffd7-52a4-4066-b5bb-e826b90217af g.chr10:55587198_55587200delGGC ENST00000373965.2 - 33 4735_4737 c.4341_4343delGCC c.(4339-4344)cct>cc p.PP1449del PCDH15_ENST00000395442.1_Intron|PCDH15_ENST00000395440.1_Intron|PCDH15_ENST00000373957.3_Intron|PCDH15_ENST00000395432.2_In_Frame_Del_p.PP1402del|PCDH15_ENST00000409834.1_In_Frame_Del_p.PP1053del|PCDH15_ENST00000395445.1_In_Frame_Del_p.PP1449del|PCDH15_ENST00000395446.1_Intron|PCDH15_ENST00000395438.1_In_Frame_Del_p.PP1442del|PCDH15_ENST00000320301.6_In_Frame_Del_p.PP1442del|PCDH15_ENST00000437009.1_In_Frame_Del_p.PP1371del|PCDH15_ENST00000395430.1_In_Frame_Del_p.PP1439del|PCDH15_ENST00000414778.1_In_Frame_Del_p.PP1444del|PCDH15_ENST00000361849.3_In_Frame_Del_p.PP1442del|PCDH15_ENST00000463095.1_5'UTR|PCDH15_ENST00000395433.1_In_Frame_Del_p.PP1417del 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) 7 329 --- --- --- --- RUFY2 55680 broad.mit.edu 37 10 70156583 70156583 + Frame_Shift_Del DEL T T - TCGA-FB-AAQ1-01A-12D-A40W-08 TCGA-FB-AAQ1-11A-11D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx e8f0e3bc-8015-4853-bd15-5c71403806f7 89c6ffd7-52a4-4066-b5bb-e826b90217af g.chr10:70156583delT ENST00000388768.2 - 4 783 c.457delA c.(457-459)tgfs p.M153fs RUFY2_ENST00000602465.1_Frame_Shift_Del_p.M118fs|RUFY2_ENST00000454950.2_Frame_Shift_Del_p.M60fs|RUFY2_ENST00000472394.2_5'UTR|RUFY2_ENST00000399200.2_Intron|RUFY2_ENST00000342616.4_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 14 362 --- --- --- --- RP11-34D15.2 0 broad.mit.edu 37 10 102104600 102104601 + RNA INS - - T TCGA-FB-AAQ1-01A-12D-A40W-08 TCGA-FB-AAQ1-11A-11D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx e8f0e3bc-8015-4853-bd15-5c71403806f7 89c6ffd7-52a4-4066-b5bb-e826b90217af g.chr10:102104600_102104601insT ENST00000429420.1 - 0 103 AAAAATCACAAttttttttttt 0.401 7 36 --- --- --- --- TSPAN4 0 broad.mit.edu 37 11 864443 864445 + In_Frame_Del DEL CTG CTG - rs61867552 byFrequency TCGA-FB-AAQ1-01A-12D-A40W-08 TCGA-FB-AAQ1-11A-11D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx e8f0e3bc-8015-4853-bd15-5c71403806f7 89c6ffd7-52a4-4066-b5bb-e826b90217af g.chr11:864443_864445delCTG ENST00000397404.1 + 5 521_523 c.262_264delCTG c.(262-264)del p.L92del TSPAN4_ENST00000397397.2_In_Frame_Del_p.L92del|TSPAN4_ENST00000346501.4_In_Frame_Del_p.L92del|TSPAN4_ENST00000397406.1_In_Frame_Del_p.L92del|TSPAN4_ENST00000525201.1_In_Frame_Del_p.L28del|TSPAN4_ENST00000397408.1_In_Frame_Del_p.L92del|TSPAN4_ENST00000409531.1_In_Frame_Del_p.L111del|TSPAN4_ENST00000397411.2_In_Frame_Del_p.L92del|TSPAN4_ENST00000409543.2_In_Frame_Del_p.L92del|TSPAN4_ENST00000397396.1_In_Frame_Del_p.L28del 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 15 683 --- --- --- --- TMEM41B 440026 broad.mit.edu 37 11 9304991 9304992 + Frame_Shift_Ins INS - - T TCGA-FB-AAQ1-01A-12D-A40W-08 TCGA-FB-AAQ1-11A-11D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx e8f0e3bc-8015-4853-bd15-5c71403806f7 89c6ffd7-52a4-4066-b5bb-e826b90217af g.chr11:9304991_9304992insT ENST00000528080.1 - 7 1193_1194 c.855_856insA c.(853-858)aataaafs p.NK285fs NM_015012.3 NP_055827.1 Q5BJD5 TM41B_HUMAN transmembrane protein 41B 285 integral to membrane kidney(1)|large_intestine(2)|lung(1)|prostate(1)|urinary_tract(2) 7 all cancers(16;9.96e-08)|Epithelial(150;4.89e-07)|BRCA - Breast invasive adenocarcinoma(625;0.0972) TTCTGCTTTAGTTTTTTTTGGA 0.342 7 188 --- --- --- --- SPON1 10418 broad.mit.edu 37 11 14276276 14276277 + RNA DEL GT GT - TCGA-FB-AAQ1-01A-12D-A40W-08 TCGA-FB-AAQ1-11A-11D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx e8f0e3bc-8015-4853-bd15-5c71403806f7 89c6ffd7-52a4-4066-b5bb-e826b90217af g.chr11:14276276_14276277delGT ENST00000310358.7 + 0 1627 Q9HCB6 SPON1_HUMAN spondin 1, extracellular matrix protein cell adhesion extracellular space|proteinaceous extracellular matrix protein binding NS(1)|endometrium(1)|large_intestine(5)|lung(11)|prostate(2)|upper_aerodigestive_tract(1) 21 Epithelial(150;0.00898) GACCTATGAGGTGTGTGTGTGT 0.594 9 300 --- --- --- --- MYRF 745 broad.mit.edu 37 11 61549225 61549226 + Frame_Shift_Ins INS - - C TCGA-FB-AAQ1-01A-12D-A40W-08 TCGA-FB-AAQ1-11A-11D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx e8f0e3bc-8015-4853-bd15-5c71403806f7 89c6ffd7-52a4-4066-b5bb-e826b90217af g.chr11:61549225_61549226insC ENST00000278836.5 + 22 3041_3042 c.2945_2946insC c.(2944-2946)gcgfs p.A982fs MYRF_ENST00000265460.5_Frame_Shift_Ins_p.A947fs|TMEM258_ENST00000535042.1_Intron|MYRF_ENST00000389602.4_Frame_Shift_Ins_p.A373fs NM_001127392.1 NP_001120864.1 myelin regulatory factor GGTTTCCATGGCCGGGCCCGCC 0.673 66 271 --- --- --- --- KDM2A 22992 broad.mit.edu 37 11 67018079 67018081 + In_Frame_Del DEL GAG GAG - TCGA-FB-AAQ1-01A-12D-A40W-08 TCGA-FB-AAQ1-11A-11D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx e8f0e3bc-8015-4853-bd15-5c71403806f7 89c6ffd7-52a4-4066-b5bb-e826b90217af g.chr11:67018079_67018081delGAG ENST00000529006.2 + 17 3024_3026 c.2578_2580delGAG c.(2578-2580)del p.E866del KDM2A_ENST00000530342.1_In_Frame_Del_p.E427del|KDM2A_ENST00000526258.1_3'UTR|KDM2A_ENST00000308783.5_In_Frame_Del_p.E324del|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 8 107 --- --- --- --- RP11-377D9.3 0 broad.mit.edu 37 12 13174142 13174147 + RNA DEL AACAAC AACAAC - rs113537246 TCGA-FB-AAQ1-01A-12D-A40W-08 TCGA-FB-AAQ1-11A-11D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx e8f0e3bc-8015-4853-bd15-5c71403806f7 89c6ffd7-52a4-4066-b5bb-e826b90217af g.chr12:13174142_13174147delAACAAC ENST00000543321.1 + 0 1025 ctgtctcaaaaacaacaacaacaaca 0.553 26 36 --- --- --- --- KRT1 3848 broad.mit.edu 37 12 53069236 53069256 + In_Frame_Del DEL TAGCTGCTACCTCCGGAGCCA TAGCTGCTACCTCCGGAGCCA - rs66529359 by1000genomes TCGA-FB-AAQ1-01A-12D-A40W-08 TCGA-FB-AAQ1-11A-11D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx e8f0e3bc-8015-4853-bd15-5c71403806f7 89c6ffd7-52a4-4066-b5bb-e826b90217af g.chr12:53069236_53069256delTAGCTGCTACCTCCGGAGCCA ENST00000252244.3 - 9 1714_1734 c.1656_1676delTGGCTCCGGAGGTAGCAGCTA c.(1654-1677)tac>ta p.YGSGGSSY552del NM_006121.3 NP_006112.3 P04264 K2C1_HUMAN keratin 1 552 Gly/Ser-rich.|Tail. complement activation, lectin pathway|epidermis development|fibrinolysis|regulation of angiogenesis|response to oxidative stress plasma membrane protein binding|receptor activity|structural constituent of cytoskeleton|sugar binding p.S557_G563delSSYGSGG(3) breast(2)|central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(7)|lung(11)|ovary(1)|prostate(7)|skin(3) 39 tccggagccgtagctgctacctccggagccatagctgccac 0.688 15 26 --- --- --- --- RP11-114H23.1 0 broad.mit.edu 37 12 76082473 76082474 + RNA INS - - T rs34373540 TCGA-FB-AAQ1-01A-12D-A40W-08 TCGA-FB-AAQ1-11A-11D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx e8f0e3bc-8015-4853-bd15-5c71403806f7 89c6ffd7-52a4-4066-b5bb-e826b90217af g.chr12:76082473_76082474insT ENST00000552856.1 - 0 401 ggtaattgaagttaaagcattc 0.312 4 6 --- --- --- --- TPTE2 93492 broad.mit.edu 37 13 20041394 20041394 + Frame_Shift_Del DEL A A - TCGA-FB-AAQ1-01A-12D-A40W-08 TCGA-FB-AAQ1-11A-11D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx e8f0e3bc-8015-4853-bd15-5c71403806f7 89c6ffd7-52a4-4066-b5bb-e826b90217af g.chr13:20041394delA ENST00000400230.2 - 7 527 c.483delT c.(481-483)ttfs p.F161fs TPTE2_ENST00000382978.1_Intron|TPTE2_ENST00000382977.4_Frame_Shift_Del_p.F161fs|TPTE2_ENST00000390680.2_Intron|TPTE2_ENST00000382975.4_Intron|TPTE2_ENST00000255310.6_Intron|TPTE2_ENST00000457266.2_Intron|TPTE2_ENST00000400103.2_Intron Q6XPS3 TPTE2_HUMAN transmembrane phosphoinositide 3-phosphatase and tensin homolog 2 161 endoplasmic reticulum membrane|integral to membrane ion channel activity|phosphatidylinositol-3,4,5-trisphosphate 3-phosphatase activity|protein tyrosine phosphatase activity|protein tyrosine/serine/threonine phosphatase activity NS(2)|breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|kidney(7)|large_intestine(8)|lung(21)|pancreas(1)|prostate(8)|skin(6)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 65 all_cancers(29;1.23e-20)|all_lung(29;1.97e-20)|all_epithelial(30;5.86e-20)|Lung NSC(5;3.36e-17)|Lung SC(185;0.0262)|Ovarian(182;0.162) all cancers(112;1.73e-05)|Epithelial(112;7.42e-05)|OV - Ovarian serous cystadenocarcinoma(117;0.000785)|Lung(94;0.0176)|LUSC - Lung squamous cell carcinoma(192;0.089) ACTTAATGTCAAAAAAAATGT 0.303 10 300 --- --- --- --- TPTE2P1 0 broad.mit.edu 37 13 25517702 25517702 + RNA DEL T T - TCGA-FB-AAQ1-01A-12D-A40W-08 TCGA-FB-AAQ1-11A-11D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx e8f0e3bc-8015-4853-bd15-5c71403806f7 89c6ffd7-52a4-4066-b5bb-e826b90217af g.chr13:25517702delT ENST00000429698.1 - 0 374 CCATTTGCTATTTTTTTTTCT 0.423 7 299 --- --- --- --- RP11-29G8.3 0 broad.mit.edu 37 13 76123902 76123916 + RNA DEL GGCGGCGGCGGCGAA GGCGGCGGCGGCGAA - rs8192737 TCGA-FB-AAQ1-01A-12D-A40W-08 TCGA-FB-AAQ1-11A-11D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx e8f0e3bc-8015-4853-bd15-5c71403806f7 89c6ffd7-52a4-4066-b5bb-e826b90217af g.chr13:76123902_76123916delGGCGGCGGCGGCGAA ENST00000563635.1 + 0 0_8 GggcggaagcggcggcggcggcgaaggcggcggcT 0.716 OREG0022446 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 7 10 --- --- --- --- ZNF219 0 broad.mit.edu 37 14 21559652 21559653 + Frame_Shift_Ins INS - - C TCGA-FB-AAQ1-01A-12D-A40W-08 TCGA-FB-AAQ1-11A-11D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx e8f0e3bc-8015-4853-bd15-5c71403806f7 89c6ffd7-52a4-4066-b5bb-e826b90217af g.chr14:21559652_21559653insC ENST00000360947.3 - 4 1892_1893 c.1481_1482insG c.(1480-1482)ggcfs p.G494fs RP11-998D10.7_ENST00000554733.2_lincRNA|ZNF219_ENST00000421093.2_Frame_Shift_Ins_p.G494fs|ZNF219_ENST00000451119.2_Frame_Shift_Ins_p.G494fs NM_016423.2 NP_057507.2 Q9P2Y4 ZN219_HUMAN zinc finger protein 219 494 negative regulation of transcription, DNA-dependent integral to membrane|nucleus DNA binding|histamine receptor activity|protein binding|sequence-specific DNA binding transcription factor activity|zinc ion binding breast(1)|central_nervous_system(1)|cervix(1)|large_intestine(1)|lung(1)|ovary(1)|prostate(2) 8 all_cancers(95;0.00185) OV - Ovarian serous cystadenocarcinoma(11;9.86e-11)|Epithelial(56;1.27e-08)|all cancers(55;6.06e-08) GBM - Glioblastoma multiforme(265;0.0191) TGCCGGTGGCGCCCCGGCCCCC 0.599 9 462 --- --- --- --- LRP10 26020 broad.mit.edu 37 14 23341527 23341529 + In_Frame_Del DEL CCT CCT - TCGA-FB-AAQ1-01A-12D-A40W-08 TCGA-FB-AAQ1-11A-11D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx e8f0e3bc-8015-4853-bd15-5c71403806f7 89c6ffd7-52a4-4066-b5bb-e826b90217af g.chr14:23341527_23341529delCCT ENST00000359591.4 + 1 706_708 c.15_17delCCT c.(13-18)acc>ac p.TL5del LRP10_ENST00000546834.1_In_Frame_Del_p.TL5del NM_014045.3 NP_054764.2 Q7Z4F1 LRP10_HUMAN low density lipoprotein receptor-related protein 10 5 endocytosis coated pit|integral to membrane central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|liver(2)|lung(7)|ovary(2)|prostate(2)|skin(5)|stomach(1)|urinary_tract(2) 32 all_cancers(95;4.69e-05) GBM - Glioblastoma multiforme(265;0.00549) TGTTGGCCACCCTCCTCCTCCTC 0.670 9 397 --- --- --- --- ACIN1 22985 broad.mit.edu 37 14 23528502 23528503 + Frame_Shift_Del DEL TC TC - TCGA-FB-AAQ1-01A-12D-A40W-08 TCGA-FB-AAQ1-11A-11D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx e8f0e3bc-8015-4853-bd15-5c71403806f7 89c6ffd7-52a4-4066-b5bb-e826b90217af g.chr14:23528502_23528503delTC ENST00000262710.1 - 19 4207_4208 c.3880_3881delGA c.(3880-3882)afs p.E1294fs ACIN1_ENST00000555053.1_Frame_Shift_Del_p.E1281fs|ACIN1_ENST00000397341.3_Frame_Shift_Del_p.E536fs|ACIN1_ENST00000357481.2_Frame_Shift_Del_p.E536fs|ACIN1_ENST00000457657.1_Frame_Shift_Del_p.E1254fs|ACIN1_ENST00000605057.1_Frame_Shift_Del_p.E1236fs|ACIN1_ENST00000338631.6_Frame_Shift_Del_p.E567fs|ACIN1_ENST00000557515.1_Frame_Shift_Del_p.E535fs NM_001164814.1|NM_014977.3 NP_001158286.1|NP_055792.1 Q9UKV3 ACINU_HUMAN apoptotic chromatin condensation inducer 1 1294 Arg/Asp/Glu/Lys-rich. apoptotic chromosome condensation|erythrocyte differentiation|positive regulation of monocyte differentiation cytosol ATPase activity|enzyme binding|nucleic acid binding|nucleotide binding breast(1)|endometrium(6)|kidney(4)|large_intestine(9)|lung(10)|ovary(2)|prostate(3)|skin(1)|upper_aerodigestive_tract(1) 37 all_cancers(95;1.36e-05) GBM - Glioblastoma multiforme(265;0.00816) ccgctccctttctctctctctc 0.629 OREG0022595 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 7 247 --- --- --- --- MGAT2 4247 broad.mit.edu 37 14 50088320 50088321 + Frame_Shift_Ins INS - - C TCGA-FB-AAQ1-01A-12D-A40W-08 TCGA-FB-AAQ1-11A-11D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx e8f0e3bc-8015-4853-bd15-5c71403806f7 89c6ffd7-52a4-4066-b5bb-e826b90217af g.chr14:50088320_50088321insC ENST00000305386.2 + 1 832_833 c.334_335insC c.(334-336)ctgfs p.L112fs RP11-649E7.5_ENST00000555043.1_RNA NM_002408.3 NP_002399.1 Q10469 MGAT2_HUMAN mannosyl (alpha-1,6-)-glycoprotein beta-1,2-N-acetylglucosaminyltransferase 112 oligosaccharide biosynthetic process|post-translational protein modification|protein N-linked glycosylation via asparagine Golgi membrane|Golgi stack|integral to membrane|membrane fraction alpha-1,6-mannosylglycoprotein 2-beta-N-acetylglucosaminyltransferase activity cervix(1)|endometrium(3)|large_intestine(1)|lung(6) 11 all_epithelial(31;0.0021)|Breast(41;0.0124) TAAGGCTGGCACCTGGGCCCCC 0.614 7 725 --- --- --- --- OTX2-AS1 0 broad.mit.edu 37 14 57509058 57509064 + RNA DEL TCCAAGC TCCAAGC - TCGA-FB-AAQ1-01A-12D-A40W-08 TCGA-FB-AAQ1-11A-11D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx e8f0e3bc-8015-4853-bd15-5c71403806f7 89c6ffd7-52a4-4066-b5bb-e826b90217af g.chr14:57509058_57509064delTCCAAGC ENST00000554725.1 + 0 344 CCAGAAGCCTTCCAAGCTCCAAGCCCT 0.483 11 60 --- --- --- --- SYNE3 161176 broad.mit.edu 37 14 95921888 95921890 + In_Frame_Del DEL CTC CTC - TCGA-FB-AAQ1-01A-12D-A40W-08 TCGA-FB-AAQ1-11A-11D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx e8f0e3bc-8015-4853-bd15-5c71403806f7 89c6ffd7-52a4-4066-b5bb-e826b90217af g.chr14:95921888_95921890delCTC ENST00000334258.5 - 5 975_977 c.961_963delGAG c.(961-963)del p.E321del SYNE3_ENST00000554873.1_In_Frame_Del_p.E78del|SYNE3_ENST00000553340.1_In_Frame_Del_p.E321del|SYNE3_ENST00000557275.1_In_Frame_Del_p.E321del NM_152592.3 NP_689805.3 spectrin repeat containing, nuclear envelope family member 3 breast(1)|endometrium(2)|lung(25) 28 CCCGCAGCCGCTCCTCCTCCTCC 0.616 7 571 --- --- --- --- HERC2P2 0 broad.mit.edu 37 15 23283336 23283337 + RNA INS - - T TCGA-FB-AAQ1-01A-12D-A40W-08 TCGA-FB-AAQ1-11A-11D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx e8f0e3bc-8015-4853-bd15-5c71403806f7 89c6ffd7-52a4-4066-b5bb-e826b90217af g.chr15:23283336_23283337insT ENST00000560464.1 - 0 5097 CTTCCCAATGAGAATCTCTGAA 0.426 14 106 --- --- --- --- IL16 3603 broad.mit.edu 37 15 81592162 81592164 + In_Frame_Del DEL CCT CCT - TCGA-FB-AAQ1-01A-12D-A40W-08 TCGA-FB-AAQ1-11A-11D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx e8f0e3bc-8015-4853-bd15-5c71403806f7 89c6ffd7-52a4-4066-b5bb-e826b90217af g.chr15:81592162_81592164delCCT ENST00000394660.2 + 14 2855_2857 c.2495_2497delCCT c.(2494-2499)gcc>g p.AS832del IL16_ENST00000394652.2_In_Frame_Del_p.AS131del|IL16_ENST00000302987.4_In_Frame_Del_p.AS832del|IL16_ENST00000560230.1_3'UTR NM_001172128.1|NM_172217.3 NP_001165599.1|NP_757366.2 Q14005 IL16_HUMAN interleukin 16 832 immune response|interspecies interaction between organisms|regulation of transcription, DNA-dependent|transcription, DNA-dependent cytoplasm|extracellular space|nucleus|plasma membrane cytokine activity p.S792delS(1)|p.S838delS(1) NS(1)|autonomic_ganglia(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(5)|large_intestine(12)|lung(20)|ovary(3)|skin(3)|stomach(1)|urinary_tract(1) 57 CACATCCGGGcctcctcctcctc 0.586 7 227 --- --- --- --- EME2 197342 broad.mit.edu 37 16 1824298 1824300 + In_Frame_Del DEL TGC TGC - TCGA-FB-AAQ1-01A-12D-A40W-08 TCGA-FB-AAQ1-11A-11D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx e8f0e3bc-8015-4853-bd15-5c71403806f7 89c6ffd7-52a4-4066-b5bb-e826b90217af g.chr16:1824298_1824300delTGC ENST00000307394.7 + 3 422_424 c.422_424delTGC c.(421-426)ttg>t p.LL143del EME2_ENST00000568449.1_In_Frame_Del_p.LL143del A4GXA9 EME2_HUMAN essential meiotic structure-specific endonuclease subunit 2 143 DNA recombination|DNA repair nucleus DNA binding|endonuclease activity central_nervous_system(1)|kidney(2)|lung(5)|pancreas(1) 9 GAACAGGAATTGCTGCTGCTGCT 0.655 Direct reversal of damage;Homologous recombination 7 578 --- --- --- --- C16orf62 57020 broad.mit.edu 37 16 19580800 19580802 + In_Frame_Del DEL TCC TCC - TCGA-FB-AAQ1-01A-12D-A40W-08 TCGA-FB-AAQ1-11A-11D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx e8f0e3bc-8015-4853-bd15-5c71403806f7 89c6ffd7-52a4-4066-b5bb-e826b90217af g.chr16:19580800_19580802delTCC ENST00000438132.3 + 3 487_489 c.439_441delTCC c.(439-441)del p.S153del C16orf62_ENST00000538853.1_In_Frame_Del_p.S153del|C16orf62_ENST00000542263.1_In_Frame_Del_p.S153del|C16orf62_ENST00000251143.5_In_Frame_Del_p.S64del|C16orf62_ENST00000417362.2_In_Frame_Del_p.S64del NM_020314.5 NP_064710.4 Q7Z3J2 CP062_HUMAN chromosome 16 open reading frame 62 64 integral to membrane breast(2)|central_nervous_system(1)|endometrium(3)|kidney(5)|large_intestine(7)|liver(1)|lung(11)|ovary(1)|prostate(2)|skin(1)|urinary_tract(2) 36 TTCTTCCACGTCCTCCTCCTCCT 0.562 7 344 --- --- --- --- PRRT2 112476 broad.mit.edu 37 16 29825016 29825016 + Frame_Shift_Del DEL C C - TCGA-FB-AAQ1-01A-12D-A40W-08 TCGA-FB-AAQ1-11A-11D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx e8f0e3bc-8015-4853-bd15-5c71403806f7 89c6ffd7-52a4-4066-b5bb-e826b90217af g.chr16:29825016delC ENST00000300797.6 + 2 815 c.641delC c.(640-642)gcfs p.A214fs AC009133.20_ENST00000569039.1_RNA|PRRT2_ENST00000358758.7_Frame_Shift_Del_p.A214fs|PRRT2_ENST00000567659.1_Frame_Shift_Del_p.A214fs|PRRT2_ENST00000567551.1_3'UTR Q7Z6L0 PRRT2_HUMAN proline-rich transmembrane protein 2 214 Pro-rich. A -> AP (in Ref. 3; CAD38881). response to biotic stimulus integral to membrane p.R217fs*12(1) central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(3)|ovary(1)|upper_aerodigestive_tract(1) 8 GCCAATGGGGCCCCCCCCCGA 0.652 7 111 --- --- --- --- SRCAP 10847 broad.mit.edu 37 16 30750551 30750552 + Frame_Shift_Ins INS - - C TCGA-FB-AAQ1-01A-12D-A40W-08 TCGA-FB-AAQ1-11A-11D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx e8f0e3bc-8015-4853-bd15-5c71403806f7 89c6ffd7-52a4-4066-b5bb-e826b90217af g.chr16:30750551_30750552insC ENST00000262518.4 + 34 9575_9576 c.9190_9191insC c.(9190-9192)ccgfs p.P3064fs SRCAP_ENST00000395059.2_Frame_Shift_Ins_p.P3002fs|SRCAP_ENST00000344771.4_Frame_Shift_Ins_p.P2906fs NM_006662.2 NP_006653.2 Q6ZRS2 SRCAP_HUMAN Snf2-related CREBBP activator protein 3064 interspecies interaction between organisms|regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent Golgi apparatus|nucleus|protein complex ATP binding|DNA binding|helicase activity|histone acetyltransferase activity|transcription coactivator activity NS(1)|breast(3)|cervix(3)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(22)|liver(3)|lung(62)|ovary(6)|pancreas(1)|prostate(4)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(5) 136 Colorectal(24;0.198) CCGCCCCCTCACCCGCCTGGCC 0.604 8 261 --- --- --- --- SLC9A5 6553 broad.mit.edu 37 16 67300017 67300019 + In_Frame_Del DEL GAG GAG - TCGA-FB-AAQ1-01A-12D-A40W-08 TCGA-FB-AAQ1-11A-11D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx e8f0e3bc-8015-4853-bd15-5c71403806f7 89c6ffd7-52a4-4066-b5bb-e826b90217af g.chr16:67300017_67300019delGAG ENST00000299798.11 + 15 2172_2174 c.2107_2109delGAG c.(2107-2109)del p.E708del NM_004594.2 NP_004585.1 Q14940 SL9A5_HUMAN solute carrier family 9, subfamily A (NHE5, cation proton antiporter 5), member 5 708 regulation of pH integral to membrane|plasma membrane sodium:hydrogen antiporter activity breast(1)|cervix(1)|endometrium(5)|kidney(4)|large_intestine(3)|lung(9)|ovary(2)|pancreas(1)|prostate(1) 27 Ovarian(137;0.0563) OV - Ovarian serous cystadenocarcinoma(108;0.00376)|Epithelial(162;0.0173)|all cancers(182;0.116) CGTGGAGTCTGAGGAGGAGGAGG 0.571 9 261 --- --- --- --- AP1G1 164 broad.mit.edu 37 16 71803440 71803440 + Splice_Site DEL A A - TCGA-FB-AAQ1-01A-12D-A40W-08 TCGA-FB-AAQ1-11A-11D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx e8f0e3bc-8015-4853-bd15-5c71403806f7 89c6ffd7-52a4-4066-b5bb-e826b90217af g.chr16:71803440delA ENST00000423132.2 - 7 921 c.e7-1 AP1G1_ENST00000393512.3_Intron|AP1G1_ENST00000299980.4_Intron|AP1G1_ENST00000569748.1_Intron|AP1G1_ENST00000433195.2_Intron O43747 AP1G1_HUMAN adaptor-related protein complex 1, gamma 1 subunit endocytosis|intracellular protein transport|post-Golgi vesicle-mediated transport|regulation of defense response to virus by virus|viral reproduction clathrin adaptor complex|clathrin coated vesicle membrane|cytosol|Golgi membrane|lysosomal membrane|recycling endosome kinesin binding|protein transporter activity breast(1)|endometrium(8)|large_intestine(6)|lung(7)|ovary(4)|pancreas(1)|urinary_tract(1) 28 Ovarian(137;0.125) GCTTGCTTTCAAAAAAAAATA 0.378 7 147 --- --- --- --- RP11-252A24.2 0 broad.mit.edu 37 16 74372915 74372915 + RNA DEL T T - rs67181940 TCGA-FB-AAQ1-01A-12D-A40W-08 TCGA-FB-AAQ1-11A-11D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx e8f0e3bc-8015-4853-bd15-5c71403806f7 89c6ffd7-52a4-4066-b5bb-e826b90217af g.chr16:74372915delT ENST00000429810.2 - 0 1404 ACGTAGtttgttttttttttt 0.438 7 23 --- --- --- --- TERF2IP 54386 broad.mit.edu 37 16 75690204 75690206 + In_Frame_Del DEL GAA GAA - rs140846731 TCGA-FB-AAQ1-01A-12D-A40W-08 TCGA-FB-AAQ1-11A-11D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx e8f0e3bc-8015-4853-bd15-5c71403806f7 89c6ffd7-52a4-4066-b5bb-e826b90217af g.chr16:75690204_75690206delGAA ENST00000300086.4 + 3 992_994 c.895_897delGAA c.(895-897)del p.E304del NM_018975.3 NP_061848.2 Q9NYB0 TE2IP_HUMAN telomeric repeat binding factor 2, interacting protein 304 Asp/Glu-rich (acidic). negative regulation of DNA recombination at telomere|negative regulation of telomere maintenance|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of NF-kappaB transcription factor activity|protection from non-homologous end joining at telomere|protein localization to chromosome, telomeric region|regulation of double-strand break repair via homologous recombination|telomere maintenance via telomerase|transcription, DNA-dependent cytoplasm|nuclear telomere cap complex|nucleoplasm DNA binding|protein binding central_nervous_system(1)|endometrium(1)|large_intestine(2)|lung(1) 5 TGATgaggaggaagaagaagaag 0.424 13 342 --- --- --- --- TP53 7157 broad.mit.edu 37 17 7579470 7579471 + Frame_Shift_Ins INS - - G rs56275308 TCGA-FB-AAQ1-01A-12D-A40W-08 TCGA-FB-AAQ1-11A-11D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx e8f0e3bc-8015-4853-bd15-5c71403806f7 89c6ffd7-52a4-4066-b5bb-e826b90217af g.chr17:7579470_7579471insG ENST00000420246.2 - 4 348_349 c.216_217insC c.(214-219)cctggcfs p.G73fs TP53_ENST00000413465.2_Frame_Shift_Ins_p.G73fs|TP53_ENST00000445888.2_Frame_Shift_Ins_p.G73fs|TP53_ENST00000269305.4_Frame_Shift_Ins_p.G73fs|TP53_ENST00000359597.4_Frame_Shift_Ins_p.G73fs|TP53_ENST00000455263.2_Frame_Shift_Ins_p.G73fs NM_001126114.2|NM_001276696.1 NP_001119586.1|NP_001263625.1 P04637 P53_HUMAN tumor protein p53 73 Interaction with HRMT1L2.|Interaction with WWOX. V -> E (in a sporadic cancer; somatic mutation).|V -> L (in sporadic cancers; somatic mutation).|V -> M (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.V73fs*76(11)|p.0?(8)|p.V73L(3)|p.G59fs*23(3)|p.R72fs*51(2)|p.V73M(2)|p.V73fs*9(1)|p.R65fs*38(1)|p.E68fs*76(1)|p.V73fs*50(1)|p.D48fs*55(1)|p.P13fs*18(1)|p.S33fs*23(1)|p.D57_A76del20(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) GCAGGGGCCACGGGGGGAGCAG 0.604 111 """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) 169 587 --- --- --- --- UBBP4 0 broad.mit.edu 37 17 21731489 21731489 + Frame_Shift_Del DEL C C - TCGA-FB-AAQ1-01A-12D-A40W-08 TCGA-FB-AAQ1-11A-11D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx e8f0e3bc-8015-4853-bd15-5c71403806f7 89c6ffd7-52a4-4066-b5bb-e826b90217af g.chr17:21731489delC ENST00000578713.1 + 2 568 c.564delC c.(562-564)atfs p.I188fs UBBP4_ENST00000583708.1_3'UTR|UBBP4_ENST00000584755.1_3'UTR endometrium(9)|kidney(4)|lung(4)|prostate(3)|urinary_tract(4) 24 AAGAAGGCATCCCCCCCGATC 0.537 7 194 --- --- --- --- CCDC103 388389 broad.mit.edu 37 17 42980014 42980015 + Frame_Shift_Del DEL AG AG - TCGA-FB-AAQ1-01A-12D-A40W-08 TCGA-FB-AAQ1-11A-11D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx e8f0e3bc-8015-4853-bd15-5c71403806f7 89c6ffd7-52a4-4066-b5bb-e826b90217af g.chr17:42980014_42980015delAG ENST00000417826.2 + 4 653_654 c.558_559delAG c.(556-561)gcagfs p.AE186fs FAM187A_ENST00000331733.4_5'UTR|FAM187A_ENST00000412523.2_Intron|CCDC103_ENST00000410006.2_Frame_Shift_Del_p.AE186fs NM_001258399.1|NM_213607.2 NP_001245328.1|NP_998772.1 Q8IW40 CC103_HUMAN coiled-coil domain containing 103 186 p.E187K(1) endometrium(1)|kidney(1)|large_intestine(3)|prostate(1)|skin(1) 7 Prostate(33;0.109) TGAGCCGGGCAGAGAGAGAGAG 0.644 8 237 --- --- --- --- VEZF1 7716 broad.mit.edu 37 17 56056605 56056607 + In_Frame_Del DEL TGC TGC - rs61731354 byFrequency TCGA-FB-AAQ1-01A-12D-A40W-08 TCGA-FB-AAQ1-11A-11D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx e8f0e3bc-8015-4853-bd15-5c71403806f7 89c6ffd7-52a4-4066-b5bb-e826b90217af g.chr17:56056605_56056607delTGC ENST00000584396.1 - 5 1105_1107 c.1017_1019delGCA c.(1015-1020)caa>ca p.QQ343del VEZF1_ENST00000581208.1_In_Frame_Del_p.QQ352del Q14119 VEZF1_HUMAN vascular endothelial zinc finger 1 352 Poly-Gln. cellular defense response|regulation of transcription from RNA polymerase II promoter|transcription from RNA polymerase II promoter nucleus DNA binding|zinc ion binding breast(1)|endometrium(1)|kidney(2)|lung(5)|ovary(1) 10 ttgttgttgttgctgctgctgct 0.463 9 922 --- --- --- --- RBBP8 5932 broad.mit.edu 37 18 20572853 20572853 + Frame_Shift_Del DEL A A - TCGA-FB-AAQ1-01A-12D-A40W-08 TCGA-FB-AAQ1-11A-11D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx e8f0e3bc-8015-4853-bd15-5c71403806f7 89c6ffd7-52a4-4066-b5bb-e826b90217af g.chr18:20572853delA ENST00000399722.2 + 11 1414 c.1063delA c.(1063-1065)aafs p.K357fs RBBP8_ENST00000360790.5_Frame_Shift_Del_p.K357fs|RBBP8_ENST00000327155.5_Frame_Shift_Del_p.K357fs|RBBP8_ENST00000399725.2_Frame_Shift_Del_p.K357fs NM_203291.1 NP_976036.1 Q99708 COM1_HUMAN retinoblastoma binding protein 8 357 K -> N (in dbSNP:rs34678569). cell cycle checkpoint|DNA double-strand break processing involved in repair via single-strand annealing|meiosis|regulation of transcription from RNA polymerase II promoter nucleus damaged DNA binding|protein binding|single-stranded DNA specific endodeoxyribonuclease activity p.K357fs*3(2)|p.K355E(2) central_nervous_system(1)|cervix(2)|endometrium(5)|large_intestine(2)|lung(9)|ovary(3)|prostate(1)|skin(1) 24 all_cancers(21;4.34e-05)|all_epithelial(16;8.3e-07)|Lung NSC(20;0.0107)|Colorectal(14;0.0202)|all_lung(20;0.0291)|Ovarian(20;0.19) OV - Ovarian serous cystadenocarcinoma(1;0.00196) ACAGCCTGGGAAAAAAAAACA 0.363 Homologous recombination 8 574 --- --- --- --- FFAR2 2867 broad.mit.edu 37 19 35940788 35940790 + In_Frame_Del DEL CTG CTG - TCGA-FB-AAQ1-01A-12D-A40W-08 TCGA-FB-AAQ1-11A-11D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx e8f0e3bc-8015-4853-bd15-5c71403806f7 89c6ffd7-52a4-4066-b5bb-e826b90217af g.chr19:35940788_35940790delCTG ENST00000599180.1 + 2 252_254 c.172_174delCTG c.(172-174)del p.L62del FFAR2_ENST00000246549.2_In_Frame_Del_p.L62del|FFAR2_ENST00000601590.1_Intron O15552 FFAR2_HUMAN free fatty acid receptor 2 62 integral to plasma membrane G-protein coupled receptor activity|lipid binding NS(1)|breast(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(7)|lung(6)|skin(1)|urinary_tract(1) 22 all_lung(56;1.89e-08)|Lung NSC(56;2.9e-08)|Esophageal squamous(110;0.162) LUSC - Lung squamous cell carcinoma(66;0.0724) CGACCTCCTCCTGCTGCTGCTGC 0.645 7 190 --- --- --- --- PRX 57716 broad.mit.edu 37 19 40900180 40900182 + In_Frame_Del DEL TCC TCC - TCGA-FB-AAQ1-01A-12D-A40W-08 TCGA-FB-AAQ1-11A-11D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx e8f0e3bc-8015-4853-bd15-5c71403806f7 89c6ffd7-52a4-4066-b5bb-e826b90217af 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 8 98 --- --- --- --- RSPH6A 81492 broad.mit.edu 37 19 46299165 46299167 + In_Frame_Del DEL CCT CCT - rs62639328 byFrequency TCGA-FB-AAQ1-01A-12D-A40W-08 TCGA-FB-AAQ1-11A-11D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx e8f0e3bc-8015-4853-bd15-5c71403806f7 89c6ffd7-52a4-4066-b5bb-e826b90217af 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 10 515 --- --- --- --- FLT3LG 0 broad.mit.edu 37 19 49978960 49978962 + In_Frame_Del DEL CTG CTG - TCGA-FB-AAQ1-01A-12D-A40W-08 TCGA-FB-AAQ1-11A-11D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx e8f0e3bc-8015-4853-bd15-5c71403806f7 89c6ffd7-52a4-4066-b5bb-e826b90217af g.chr19:49978960_49978962delCTG ENST00000594009.1 + 2 125_127 c.46_48delCTG c.(46-48)del p.L20del FLT3LG_ENST00000595815.1_3'UTR|FLT3LG_ENST00000597551.1_In_Frame_Del_p.L20del|FLT3LG_ENST00000344019.3_In_Frame_Del_p.L20del|FLT3LG_ENST00000600429.1_In_Frame_Del_p.L20del|FLT3LG_ENST00000595510.1_5'UTR|CTD-3148I10.9_ENST00000599536.1_Intron|FLT3LG_ENST00000204637.2_5'UTR|FLT3LG_ENST00000596435.1_In_Frame_Del_p.L20del NM_001204503.1 NP_001191432.1 P49771 FLT3L_HUMAN fms-related tyrosine kinase 3 ligand 20 positive regulation of cell proliferation|signal transduction extracellular space|integral to membrane|plasma membrane|soluble fraction cytokine activity large_intestine(2)|lung(3)|skin(2)|stomach(1)|upper_aerodigestive_tract(2) 10 all_lung(116;1.62e-07)|Lung NSC(112;8.47e-07)|all_neural(266;0.0381)|Ovarian(192;0.0392) OV - Ovarian serous cystadenocarcinoma(262;0.00154)|GBM - Glioblastoma multiforme(486;0.0246) CTATCTCCTCCTGCTGCTGCTGC 0.621 8 343 --- --- --- --- SIGLEC8 27181 broad.mit.edu 37 19 51961617 51961619 + In_Frame_Del DEL GCA GCA - TCGA-FB-AAQ1-01A-12D-A40W-08 TCGA-FB-AAQ1-11A-11D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx e8f0e3bc-8015-4853-bd15-5c71403806f7 89c6ffd7-52a4-4066-b5bb-e826b90217af g.chr19:51961617_51961619delGCA ENST00000321424.3 - 1 89_91 c.23_25delTGC c.(22-27)ccc>c p.LP8del SIGLEC8_ENST00000340550.5_In_Frame_Del_p.LP8del|SIGLEC8_ENST00000430817.1_In_Frame_Del_p.LP8del NM_014442.2 NP_055257.2 Q9NYZ4 SIGL8_HUMAN sialic acid binding Ig-like lectin 8 8 cell adhesion integral to membrane sugar binding|transmembrane receptor activity NS(1)|central_nervous_system(3)|endometrium(2)|kidney(4)|large_intestine(11)|liver(3)|lung(15)|ovary(2)|skin(4)|stomach(3)|urinary_tract(2) 50 all_neural(266;0.0199) GBM - Glioblastoma multiforme(134;0.000627)|OV - Ovarian serous cystadenocarcinoma(262;0.00979) CAGagcaggggcagcagcagcag 0.596 8 365 --- --- --- --- DDX27 55661 broad.mit.edu 37 20 47858504 47858504 + Frame_Shift_Del DEL A A - TCGA-FB-AAQ1-01A-12D-A40W-08 TCGA-FB-AAQ1-11A-11D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx e8f0e3bc-8015-4853-bd15-5c71403806f7 89c6ffd7-52a4-4066-b5bb-e826b90217af g.chr20:47858504delA ENST00000371764.4 + 17 2074 c.2065delA c.(2065-2067)aafs p.K691fs DDX27_ENST00000484427.1_3'UTR|ZNFX1_ENST00000469991.1_Intron|ZNFX1_ENST00000371754.4_Intron NM_017895.7 NP_060365.7 Q96GQ7 DDX27_HUMAN DEAD (Asp-Glu-Ala-Asp) box polypeptide 27 691 nucleus ATP binding|ATP-dependent helicase activity|nucleic acid binding|protein binding p.K691fs*4(3) NS(1)|breast(1)|endometrium(2)|kidney(3)|large_intestine(12)|lung(19)|ovary(1)|prostate(2)|skin(3)|urinary_tract(1) 45 BRCA - Breast invasive adenocarcinoma(12;0.000899)|COAD - Colon adenocarcinoma(4;0.14)|Colorectal(8;0.166) GAAGGATGCCAAAAAAAAGGG 0.488 16 465 --- --- --- --- PRDM15 63977 broad.mit.edu 37 21 43221415 43221417 + In_Frame_Del DEL CTG CTG - TCGA-FB-AAQ1-01A-12D-A40W-08 TCGA-FB-AAQ1-11A-11D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx e8f0e3bc-8015-4853-bd15-5c71403806f7 89c6ffd7-52a4-4066-b5bb-e826b90217af g.chr21:43221415_43221417delCTG ENST00000422911.1 - 25 3681_3683 c.3580_3582delCAG c.(3580-3582)del p.Q1194del PRDM15_ENST00000398548.1_In_Frame_Del_p.Q1174del|PRDM15_ENST00000269844.3_In_Frame_Del_p.Q1503del|PRDM15_ENST00000470586.1_5'UTR|PRDM15_ENST00000538201.1_In_Frame_Del_p.Q1157del|PRDM15_ENST00000447207.2_In_Frame_Del_p.Q1137del P57071 PRD15_HUMAN PR domain containing 15 1503 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding NS(2)|breast(1)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|lung(11)|ovary(3)|skin(2)|stomach(2)|urinary_tract(1) 43 AGCTGTACATCTGCTGCTGCTGC 0.611 8 498 --- --- --- --- TCF20 6942 broad.mit.edu 37 22 42610776 42610778 + In_Frame_Del DEL TGC TGC - TCGA-FB-AAQ1-01A-12D-A40W-08 TCGA-FB-AAQ1-11A-11D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx e8f0e3bc-8015-4853-bd15-5c71403806f7 89c6ffd7-52a4-4066-b5bb-e826b90217af g.chr22:42610776_42610778delTGC ENST00000359486.3 - 1 670_672 c.534_536delGCA c.(532-537)caa>ca p.QQ178del TCF20_ENST00000335626.4_In_Frame_Del_p.QQ178del NM_005650.1 NP_005641.1 Q9UGU0 TCF20_HUMAN transcription factor 20 (AR1) 178 Poly-Gln. regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|transcription coactivator activity|zinc ion binding breast(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(7)|large_intestine(13)|lung(22)|ovary(5)|prostate(1)|skin(2)|soft_tissue(1)|upper_aerodigestive_tract(2)|urinary_tract(5) 66 CTGCTGGACTTGCTGCTGCTGCT 0.571 12 312 --- --- --- --- RP11-258C19.5 0 broad.mit.edu 37 X 53142506 53142507 + RNA INS - - A rs146094031 TCGA-FB-AAQ1-01A-12D-A40W-08 TCGA-FB-AAQ1-11A-11D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx e8f0e3bc-8015-4853-bd15-5c71403806f7 89c6ffd7-52a4-4066-b5bb-e826b90217af g.chrX:53142506_53142507insA ENST00000604849.1 + 0 96 AAAACACACACACAAAAAAAAA 0.356 8 29 --- --- --- --- F8 2157 broad.mit.edu 37 X 154157686 154157686 + Frame_Shift_Del DEL T T - TCGA-FB-AAQ1-01A-12D-A40W-08 TCGA-FB-AAQ1-11A-11D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx e8f0e3bc-8015-4853-bd15-5c71403806f7 89c6ffd7-52a4-4066-b5bb-e826b90217af g.chrX:154157686delT ENST00000360256.4 - 14 4579 c.4379delA c.(4378-4380)atfs p.N1461fs NM_000132.3 NP_000123.1 P00451 FA8_HUMAN coagulation factor VIII, procoagulant component 1461 B. acute-phase response|blood coagulation, intrinsic pathway|cell adhesion|platelet activation|platelet degranulation extracellular space|plasma membrane|platelet alpha granule lumen copper ion binding|oxidoreductase activity|protein binding p.N1460fs*5(2)|p.N1460fs*2(2) NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(3)|kidney(6)|large_intestine(27)|liver(1)|lung(47)|ovary(5)|pancreas(3)|prostate(1)|skin(5)|upper_aerodigestive_tract(5)|urinary_tract(2) 120 all_cancers(53;7.19e-17)|all_epithelial(53;9.83e-11)|all_lung(58;6.63e-07)|Lung NSC(58;2.08e-06)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176)|Renal(33;0.214) Antihemophilic Factor(DB00025)|Coagulation Factor IX(DB00100)|Drotrecogin alfa(DB00055) AGAAAGGTTATTTTTTTTGGC 0.413 7 366 --- --- --- ---