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 FAM66D 0 broad.mit.edu 37 8 11986053 11986053 + RNA SNP G G A TCGA-FB-AAPZ-01A-11D-A40W-08 TCGA-FB-AAPZ-11A-11D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2feaf6e8-f76a-4c02-9536-689e3ad149de 3b27aea6-7bdb-48d4-9fef-c5748fef457d g.chr8:11986053G>A ENST00000434078.2 + 0 608 NR_027425.1 CACAATGATAGGCATTCTCTC 0.507000 11 249 0 0 1 0 0 TMEM178A 130733 broad.mit.edu 37 2 39934299 39934299 + Missense_Mutation SNP G G A TCGA-FB-AAPZ-01A-11D-A40W-08 TCGA-FB-AAPZ-11A-11D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2feaf6e8-f76a-4c02-9536-689e3ad149de 3b27aea6-7bdb-48d4-9fef-c5748fef457d g.chr2:39934299G>A ENST00000281961.2 + 3 681 c.625G>A c.(625-627)Gtg>Atg p.V209M TMEM178A_ENST00000482239.1_3'UTR NM_152390.2 NP_689603.2 transmembrane protein 178A GACCCAGCACGTGGCTGGACT 0.602000 11 167 0 0 1 0 0 CD8B 926 broad.mit.edu 37 2 87085431 87085431 + Missense_Mutation SNP C C T TCGA-FB-AAPZ-01A-11D-A40W-08 TCGA-FB-AAPZ-11A-11D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2feaf6e8-f76a-4c02-9536-689e3ad149de 3b27aea6-7bdb-48d4-9fef-c5748fef457d g.chr2:87085431C>T ENST00000390655.6 - 2 210 c.152G>A c.(151-153)cGc>cAc p.R51H CD8B_ENST00000349455.3_Missense_Mutation_p.R51H|CD8B_ENST00000393759.2_Missense_Mutation_p.R51H|CD8B_ENST00000431506.2_Intron|CD8B_ENST00000393761.2_Missense_Mutation_p.R51H|CD8B_ENST00000331469.2_Missense_Mutation_p.R51H NM_004931.4 NP_004922.1 P10966 CD8B_HUMAN CD8b molecule 51 Ig-like V-type. immune response|regulation of defense response to virus by virus|regulation of immune response|T cell activation|transmembrane receptor protein tyrosine kinase signaling pathway|viral reproduction early endosome|extracellular region|integral to plasma membrane|T cell receptor complex coreceptor activity|MHC class I protein binding NS(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(6)|skin(1)|upper_aerodigestive_tract(1) 13 CCAGTAGATGCGCATGTTACT 0.552000 117 225 0 0 1 0 0 APP 351 broad.mit.edu 37 21 27327982 27327982 + Missense_Mutation SNP G G A TCGA-FB-AAPZ-01A-11D-A40W-08 TCGA-FB-AAPZ-11A-11D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2feaf6e8-f76a-4c02-9536-689e3ad149de 3b27aea6-7bdb-48d4-9fef-c5748fef457d g.chr21:27327982G>A ENST00000358918.3 - 12 1745 c.1546C>T c.(1546-1548)Cgc>Tgc p.R516C APP_ENST00000359726.3_Missense_Mutation_p.R460C|APP_ENST00000354192.3_Missense_Mutation_p.R385C|APP_ENST00000348990.5_Missense_Mutation_p.R441C|APP_ENST00000448388.2_Missense_Mutation_p.R406C|APP_ENST00000346798.3_Missense_Mutation_p.R516C|APP_ENST00000440126.3_Missense_Mutation_p.R492C|APP_ENST00000439274.2_Missense_Mutation_p.R460C|APP_ENST00000357903.3_Missense_Mutation_p.R497C NM_001204301.1|NM_001204302.1 NP_001191230.1|NP_001191231.1 P05067 A4_HUMAN amyloid beta (A4) precursor protein 516 Heparin-binding. adult locomotory behavior|axon cargo transport|axon midline choice point recognition|cell adhesion|cellular copper ion homeostasis|collateral sprouting in absence of injury|dendrite development|endocytosis|extracellular matrix organization|G2 phase of mitotic cell cycle|innate immune response|ionotropic glutamate receptor signaling pathway|mating behavior|mRNA polyadenylation|neuron apoptosis|neuron remodeling|Notch signaling pathway|platelet activation|platelet degranulation|positive regulation of mitotic cell cycle|protein phosphorylation|regulation of epidermal growth factor receptor activity|regulation of multicellular organism growth|regulation of synapse structure and activity|regulation of translation|visual learning axon|cell surface|coated pit|dendritic shaft|dendritic spine|extracellular region|Golgi apparatus|integral to plasma membrane|platelet alpha granule lumen acetylcholine receptor binding|DNA binding|heparin binding|identical protein binding|metal ion binding|protein binding|PTB domain binding|serine-type endopeptidase inhibitor activity endometrium(5)|large_intestine(3)|lung(11)|ovary(1)|skin(1)|upper_aerodigestive_tract(1) 22 Breast(209;0.00295) TCCACCATGCGCACATGCTCG 0.502000 5 322 0 0 1 0 0 TBC1D2B 23102 broad.mit.edu 37 15 78290635 78290635 + Missense_Mutation SNP C C T rs117285325 by1000genomes TCGA-FB-AAPZ-01A-11D-A40W-08 TCGA-FB-AAPZ-11A-11D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2feaf6e8-f76a-4c02-9536-689e3ad149de 3b27aea6-7bdb-48d4-9fef-c5748fef457d g.chr15:78290635C>T ENST00000409931.3 - 13 2778 c.2707G>A c.(2707-2709)Gac>Aac p.D903N TBC1D2B_ENST00000492078.1_5'UTR|TBC1D2B_ENST00000300584.3_Missense_Mutation_p.R920Q Q9UPU7 TBD2B_HUMAN TBC1 domain family, member 2B 0 intracellular protein binding|Rab GTPase activator activity p.D903N(3)|p.R920Q(1) breast(3)|cervix(2)|endometrium(4)|kidney(1)|large_intestine(7)|lung(2)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(2) 26 GTAGGCGCGTCGGTTCCGGAT 0.617000 5 45 0 0 1 0 0 ALDOB 229 broad.mit.edu 37 9 104187206 104187206 + Silent SNP C C T TCGA-FB-AAPZ-01A-11D-A40W-08 TCGA-FB-AAPZ-11A-11D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2feaf6e8-f76a-4c02-9536-689e3ad149de 3b27aea6-7bdb-48d4-9fef-c5748fef457d g.chr9:104187206C>T ENST00000374855.4 - 8 1042 c.918G>A c.(916-918)ctG>ctA p.L306L NM_000035.3 NP_000026.2 P05062 ALDOB_HUMAN aldolase B, fructose-bisphosphate 306 fructose 1,6-bisphosphate metabolic process|fructose catabolic process|gluconeogenesis|glycolysis|NADH oxidation|positive regulation of ATPase activity|vacuolar proton-transporting V-type ATPase complex assembly centriolar satellite|cytosol ATPase binding|cytoskeletal protein binding|fructose binding|fructose-bisphosphate aldolase activity|identical protein binding central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(6)|liver(1)|lung(5)|prostate(2)|skin(4)|urinary_tract(1) 24 Acute lymphoblastic leukemia(62;0.0559) CACTGGCCTGCAGGGCCCGTC 0.552000 6 422 0 0 1 0 0 MZT1 440145 broad.mit.edu 37 13 73293170 73293170 + Missense_Mutation SNP G G A TCGA-FB-AAPZ-01A-11D-A40W-08 TCGA-FB-AAPZ-11A-11D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2feaf6e8-f76a-4c02-9536-689e3ad149de 3b27aea6-7bdb-48d4-9fef-c5748fef457d g.chr13:73293170G>A ENST00000377818.3 - 2 229 c.145C>T c.(145-147)Cgg>Tgg p.R49W NM_001071775.2 NP_001065243.1 Q08AG7 MZT1_HUMAN mitotic spindle organizing protein 1 49 gamma-tubulin complex localization centrosome|gamma-tubulin ring complex|spindle protein binding endometrium(1)|kidney(1)|large_intestine(1)|lung(1) 4 TCACAAAGCCGTACACAAATA 0.353000 7 852 0 0 1 0 0 ELAC2 60528 broad.mit.edu 37 17 12898183 12898183 + Missense_Mutation SNP G G A TCGA-FB-AAPZ-01A-11D-A40W-08 TCGA-FB-AAPZ-11A-11D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2feaf6e8-f76a-4c02-9536-689e3ad149de 3b27aea6-7bdb-48d4-9fef-c5748fef457d g.chr17:12898183G>A ENST00000338034.4 - 21 2166 c.1927C>T c.(1927-1929)Cgg>Tgg p.R643W ELAC2_ENST00000395962.2_Missense_Mutation_p.R624W|ELAC2_ENST00000426905.3_Missense_Mutation_p.R603W NM_018127.6|NM_173717.1 NP_060597.4|NP_776065.1 Q9BQ52 RNZ2_HUMAN elaC ribonuclease Z 2 643 tRNA processing nucleus endonuclease activity|metal ion binding|protein binding breast(1)|central_nervous_system(1)|cervix(2)|endometrium(4)|kidney(2)|large_intestine(4)|lung(8)|skin(1) 23 TTGCAGTGCCGCACCAGACAG 0.632000 5 446 0 0 1 0 0 CRB1 23418 broad.mit.edu 37 1 197313436 197313436 + Silent SNP C C T TCGA-FB-AAPZ-01A-11D-A40W-08 TCGA-FB-AAPZ-11A-11D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2feaf6e8-f76a-4c02-9536-689e3ad149de 3b27aea6-7bdb-48d4-9fef-c5748fef457d g.chr1:197313436C>T ENST00000367400.3 + 3 813 c.678C>T c.(676-678)gaC>gaT p.D226D CRB1_ENST00000538660.1_Silent_p.D226D|CRB1_ENST00000535699.1_Silent_p.D157D|CRB1_ENST00000543483.1_5'UTR|CRB1_ENST00000367399.2_Intron NM_201253.2 NP_957705.1 P82279 CRUM1_HUMAN crumbs homolog 1 (Drosophila) 226 EGF-like 6; calcium-binding (Potential). cell-cell signaling|establishment or maintenance of cell polarity apical plasma membrane|extracellular region|integral to membrane calcium ion binding|protein binding NS(1)|breast(4)|central_nervous_system(2)|cervix(3)|endometrium(13)|kidney(4)|large_intestine(21)|lung(58)|ovary(7)|prostate(3)|skin(10)|upper_aerodigestive_tract(4)|urinary_tract(2) 132 TGGAAATTGACGAATGTTGGT 0.418000 6 862 0 0 1 0 0 CHEK2 11200 broad.mit.edu 37 22 29091841 29091841 + Silent SNP G G A rs146546850 byFrequency TCGA-FB-AAPZ-01A-11D-A40W-08 TCGA-FB-AAPZ-11A-11D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2feaf6e8-f76a-4c02-9536-689e3ad149de 3b27aea6-7bdb-48d4-9fef-c5748fef457d g.chr22:29091841G>A ENST00000544772.1 - 12 1889 c.453C>T c.(451-453)tcC>tcT p.S151S CHEK2_ENST00000382565.1_Intron|CHEK2_ENST00000328354.6_Silent_p.S372S|CHEK2_ENST00000382566.1_3'UTR|CHEK2_ENST00000405598.1_Silent_p.S372S|CHEK2_ENST00000402731.1_Silent_p.S343S|CHEK2_ENST00000403642.1_Silent_p.S281S|CHEK2_ENST00000348295.3_Silent_p.S343S|CHEK2_ENST00000382580.2_Silent_p.S415S|CHEK2_ENST00000404276.1_Silent_p.S372S|CHEK2_ENST00000382578.1_Silent_p.S281S NM_001257387.1 NP_001244316.1 O96017 CHK2_HUMAN checkpoint kinase 2 372 FHA. cell cycle|DNA damage checkpoint|DNA damage response, signal transduction resulting in induction of apoptosis|replicative senescence PML body ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity p.S372S(8) central_nervous_system(17)|endometrium(2)|kidney(11)|large_intestine(2)|lung(11)|ovary(1)|prostate(4)|stomach(2) 50 CCAAAATCTTGGAGTGCCCAA 0.413000 F breast Direct reversal of damage;Other conserved DNA damage response genes 12 230 0 0 1 0 0 MX2 4600 broad.mit.edu 37 21 42749046 42749046 + Missense_Mutation SNP G G T rs142593261 TCGA-FB-AAPZ-01A-11D-A40W-08 TCGA-FB-AAPZ-11A-11D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2feaf6e8-f76a-4c02-9536-689e3ad149de 3b27aea6-7bdb-48d4-9fef-c5748fef457d g.chr21:42749046G>T ENST00000330714.3 + 2 397 c.213G>T c.(211-213)caG>caT p.Q71H MX2_ENST00000543692.1_Missense_Mutation_p.Q71H NM_002463.1 NP_002454.1 P20592 MX2_HUMAN myxovirus (influenza virus) resistance 2 (mouse) 71 response to virus|type I interferon-mediated signaling pathway cytoplasm|nucleus GTP binding|GTPase activity breast(2)|endometrium(3)|large_intestine(6)|lung(12)|ovary(2)|prostate(3)|skin(2)|stomach(1)|upper_aerodigestive_tract(3) 34 Prostate(19;1.57e-07)|all_epithelial(19;0.0222) TGAACAATCAGCCACCACCAG 0.552000 302 412 3.24668e-178 3.66069e-178 1 1 0 DNAH7 56171 broad.mit.edu 37 2 196825327 196825327 + Missense_Mutation SNP G G A TCGA-FB-AAPZ-01A-11D-A40W-08 TCGA-FB-AAPZ-11A-11D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2feaf6e8-f76a-4c02-9536-689e3ad149de 3b27aea6-7bdb-48d4-9fef-c5748fef457d g.chr2:196825327G>A ENST00000312428.6 - 18 2648 c.2548C>T c.(2548-2550)Cgc>Tgc p.R850C NM_018897.2 NP_061720.2 Q8WXX0 DYH7_HUMAN dynein, axonemal, heavy chain 7 850 Stem (By similarity). ciliary or flagellar motility|microtubule-based movement axonemal dynein complex|cilium axoneme|cytoplasm|microtubule ATP binding|microtubule motor activity p.R850C(1) NS(4)|breast(2)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(15)|large_intestine(28)|liver(3)|lung(100)|ovary(4)|prostate(5)|skin(26)|upper_aerodigestive_tract(2)|urinary_tract(3) 205 TGCCTGGGGCGCAAACCAGGA 0.453000 6 734 0 0 1 0 0 FAM86HP 0 broad.mit.edu 37 3 129821632 129821632 + RNA SNP C C T rs115468595 by1000genomes TCGA-FB-AAPZ-01A-11D-A40W-08 TCGA-FB-AAPZ-11A-11D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2feaf6e8-f76a-4c02-9536-689e3ad149de 3b27aea6-7bdb-48d4-9fef-c5748fef457d g.chr3:129821632C>T ENST00000500074.2 - 0 513 ACACCTGGCACGTCTCTGGGT 0.662000 7 549 0 0 1 0 0 DENND2C 163259 broad.mit.edu 37 1 115130448 115130448 + Missense_Mutation SNP G G A TCGA-FB-AAPZ-01A-11D-A40W-08 TCGA-FB-AAPZ-11A-11D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2feaf6e8-f76a-4c02-9536-689e3ad149de 3b27aea6-7bdb-48d4-9fef-c5748fef457d g.chr1:115130448G>A ENST00000393274.1 - 19 3182 c.2557C>T c.(2557-2559)Cgt>Tgt p.R853C DENND2C_ENST00000393277.1_Missense_Mutation_p.R741C|DENND2C_ENST00000481894.1_5'UTR|DENND2C_ENST00000393276.3_Missense_Mutation_p.R796C NM_001256404.1 NP_001243333.1 Q68D51 DEN2C_HUMAN DENN/MADD domain containing 2C 853 dDENN. NS(2)|breast(2)|cervix(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(10)|lung(10)|pancreas(1)|skin(3) 37 all_epithelial(7;9.54e-05)|all_lung(7;0.000179)|Lung NSC(6;0.00195)|Lung SC(450;0.211) all_cancers(81;4.64e-07)|all_epithelial(167;4.2e-07)|all_lung(203;9.97e-06)|Lung NSC(69;1.74e-05) Lung(183;0.0234)|Colorectal(144;0.0686)|COAD - Colon adenocarcinoma(174;0.111)|all cancers(265;0.112)|Epithelial(280;0.124)|LUSC - Lung squamous cell carcinoma(189;0.133) TGGGACTTACGGAATGGTTCC 0.483000 4 247 0 0 1 0 0 RBM45 129831 broad.mit.edu 37 2 178990889 178990889 + Missense_Mutation SNP C C G TCGA-FB-AAPZ-01A-11D-A40W-08 TCGA-FB-AAPZ-11A-11D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2feaf6e8-f76a-4c02-9536-689e3ad149de 3b27aea6-7bdb-48d4-9fef-c5748fef457d g.chr2:178990889C>G ENST00000286070.5 + 9 1503 c.1411C>G c.(1411-1413)Caa>Gaa p.Q471E RBM45_ENST00000464647.1_3'UTR NM_152945.2 NP_694453.2 Q8IUH3 RBM45_HUMAN RNA binding motif protein 45 473 cell differentiation|nervous system development cytoplasm|nucleus nucleotide binding|RNA binding endometrium(3)|kidney(2)|large_intestine(8)|lung(10)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1) 27 OV - Ovarian serous cystadenocarcinoma(117;0.00854)|Epithelial(96;0.00957)|all cancers(119;0.037) TAACAAACGGCAAAGAACTTA 0.348000 112 184 0 0 1 0 0 ZC3H11A 9877 broad.mit.edu 37 1 203821508 203821508 + Nonsense_Mutation SNP C C G TCGA-FB-AAPZ-01A-11D-A40W-08 TCGA-FB-AAPZ-11A-11D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2feaf6e8-f76a-4c02-9536-689e3ad149de 3b27aea6-7bdb-48d4-9fef-c5748fef457d g.chr1:203821508C>G ENST00000545588.1 + 17 6241 c.2414C>G c.(2413-2415)tCa>tGa p.S805* ZC3H11A_ENST00000367214.1_Nonsense_Mutation_p.S805*|ZC3H11A_ENST00000332127.4_Nonsense_Mutation_p.S805*|ZC3H11A_ENST00000367212.3_Nonsense_Mutation_p.S805*|ZC3H11A_ENST00000367210.1_Nonsense_Mutation_p.S805* NM_001271675.1 NP_001258604.1 O75152 ZC11A_HUMAN zinc finger CCCH-type containing 11A 805 nucleic acid binding|protein binding|zinc ion binding p.S805*(3) central_nervous_system(1)|endometrium(7)|kidney(1)|large_intestine(4)|lung(15)|prostate(1)|skin(2)|upper_aerodigestive_tract(1) 32 all_cancers(21;0.0904)|all_epithelial(62;0.234) BRCA - Breast invasive adenocarcinoma(75;0.109) CTTGAGCTATCAGAAATGATT 0.378000 5 249 0 0 1 0 0 TXNDC2 0 broad.mit.edu 37 18 9886894 9886894 + Missense_Mutation SNP A A G rs146821851 TCGA-FB-AAPZ-01A-11D-A40W-08 TCGA-FB-AAPZ-11A-11D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2feaf6e8-f76a-4c02-9536-689e3ad149de 3b27aea6-7bdb-48d4-9fef-c5748fef457d g.chr18:9886894A>G ENST00000306084.6 + 2 617 c.418A>G c.(418-420)Aaa>Gaa p.K140E TXNDC2_ENST00000584255.1_3'UTR|TXNDC2_ENST00000426718.3_3'UTR|TXNDC2_ENST00000357775.4_Missense_Mutation_p.K73E|TXNDC2_ENST00000536353.2_Missense_Mutation_p.K73E NM_001098529.1 NP_001091999.1 Q86VQ3 TXND2_HUMAN thioredoxin domain containing 2 (spermatozoa) 140 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 p.K140E(2)|p.K73E(2) 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 GTCCTCAGAAAAAGCCATCCA 0.547000 7 877 0 0 1 0 0 HS3ST1 9957 broad.mit.edu 37 4 11401393 11401393 + Silent SNP G G A TCGA-FB-AAPZ-01A-11D-A40W-08 TCGA-FB-AAPZ-11A-11D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2feaf6e8-f76a-4c02-9536-689e3ad149de 3b27aea6-7bdb-48d4-9fef-c5748fef457d g.chr4:11401393G>A ENST00000002596.5 - 2 1411 c.237C>T c.(235-237)gaC>gaT p.D79D NM_005114.2 NP_005105.1 O14792 HS3S1_HUMAN heparan sulfate (glucosamine) 3-O-sulfotransferase 1 79 Golgi lumen|integral to membrane [heparan sulfate]-glucosamine 3-sulfotransferase 1 activity p.D79D(1) breast(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|liver(1)|lung(6)|skin(3) 15 CGGCCGCCACGTCGGGGTGCA 0.662000 8 313 0 0 1 0 0 ENPP4 22875 broad.mit.edu 37 6 46108833 46108833 + Missense_Mutation SNP A A C TCGA-FB-AAPZ-01A-11D-A40W-08 TCGA-FB-AAPZ-11A-11D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2feaf6e8-f76a-4c02-9536-689e3ad149de 3b27aea6-7bdb-48d4-9fef-c5748fef457d g.chr6:46108833A>C ENST00000321037.4 + 3 1101 c.871A>C c.(871-873)Atg>Ctg p.M291L NM_014936.4 NP_055751.1 Q9Y6X5 ENPP4_HUMAN ectonucleotide pyrophosphatase/phosphodiesterase 4 (putative) 291 integral to membrane hydrolase activity central_nervous_system(1)|large_intestine(2)|lung(7)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(2) 18 TAGCCCTCATATGAATGTTTA 0.323000 136 303 0 0 1 0 0 LL22NC03-80A10.6 0 broad.mit.edu 37 22 22664141 22664141 + RNA SNP G G A TCGA-FB-AAPZ-01A-11D-A40W-08 TCGA-FB-AAPZ-11A-11D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2feaf6e8-f76a-4c02-9536-689e3ad149de 3b27aea6-7bdb-48d4-9fef-c5748fef457d g.chr22:22664141G>A ENST00000426066.1 + 0 664 NR_027293.1 AAATTTGAAGGTGCTGTGATT 0.448000 8 329 0 0 1 0 0 RP11-483E23.2 0 broad.mit.edu 37 15 28600002 28600002 + RNA SNP T T A TCGA-FB-AAPZ-01A-11D-A40W-08 TCGA-FB-AAPZ-11A-11D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2feaf6e8-f76a-4c02-9536-689e3ad149de 3b27aea6-7bdb-48d4-9fef-c5748fef457d g.chr15:28600002T>A ENST00000568624.1 - 0 404 TTCGTATGGTTTGAACCTGGG 0.493000 6 260 0 0 1 0 0 CDIPT 10423 broad.mit.edu 37 16 29872467 29872467 + Missense_Mutation SNP T T C TCGA-FB-AAPZ-01A-11D-A40W-08 TCGA-FB-AAPZ-11A-11D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2feaf6e8-f76a-4c02-9536-689e3ad149de 3b27aea6-7bdb-48d4-9fef-c5748fef457d g.chr16:29872467T>C ENST00000219789.6 - 3 1170 c.292A>G c.(292-294)Atg>Gtg p.M98V CDIPT_ENST00000561555.1_Missense_Mutation_p.M122V|CDIPT_ENST00000566113.1_Missense_Mutation_p.M53V|CDIPT_ENST00000569956.1_Missense_Mutation_p.M98V|CDIPT_ENST00000570016.1_Missense_Mutation_p.M98V|CDIPT_ENST00000563415.1_Missense_Mutation_p.M98V NM_006319.3 NP_006310.1 O14735 CDIPT_HUMAN CDP-diacylglycerol--inositol 3-phosphatidyltransferase 98 endoplasmic reticulum membrane|Golgi membrane|integral to membrane|plasma membrane CDP-diacylglycerol-inositol 3-phosphatidyltransferase activity|phosphatidylinositol transporter activity endometrium(1)|lung(3) 4 TCCAAACTCATGCTGATTTGG 0.607000 78 99 0 0 1 0 0 PIK3AP1 118788 broad.mit.edu 37 10 98388169 98388169 + Missense_Mutation SNP C C T TCGA-FB-AAPZ-01A-11D-A40W-08 TCGA-FB-AAPZ-11A-11D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2feaf6e8-f76a-4c02-9536-689e3ad149de 3b27aea6-7bdb-48d4-9fef-c5748fef457d g.chr10:98388169C>T ENST00000339364.5 - 9 1576 c.1457G>A c.(1456-1458)cGc>cAc p.R486H PIK3AP1_ENST00000371110.2_Missense_Mutation_p.R308H|PIK3AP1_ENST00000468783.1_5'UTR|PIK3AP1_ENST00000371109.3_Missense_Mutation_p.R85H NM_152309.2 NP_689522.2 Q6ZUJ8 BCAP_HUMAN phosphoinositide-3-kinase adaptor protein 1 486 cytoplasm|plasma membrane NS(1)|autonomic_ganglia(1)|breast(1)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(5)|lung(27)|ovary(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(4) 52 Colorectal(252;0.0442) Epithelial(162;6.29e-08)|all cancers(201;3.18e-06) TAAAAACTTGCGGATCATAGA 0.448000 6 874 0 0 1 0 0 CHEK2 11200 broad.mit.edu 37 22 29091840 29091840 + Missense_Mutation SNP T T C rs142470496 byFrequency TCGA-FB-AAPZ-01A-11D-A40W-08 TCGA-FB-AAPZ-11A-11D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2feaf6e8-f76a-4c02-9536-689e3ad149de 3b27aea6-7bdb-48d4-9fef-c5748fef457d g.chr22:29091840T>C ENST00000544772.1 - 12 1890 c.454A>G c.(454-456)Aag>Gag p.K152E CHEK2_ENST00000382565.1_Intron|CHEK2_ENST00000328354.6_Missense_Mutation_p.K373E|CHEK2_ENST00000382566.1_3'UTR|CHEK2_ENST00000405598.1_Missense_Mutation_p.K373E|CHEK2_ENST00000402731.1_Missense_Mutation_p.K344E|CHEK2_ENST00000403642.1_Missense_Mutation_p.K282E|CHEK2_ENST00000348295.3_Missense_Mutation_p.K344E|CHEK2_ENST00000382580.2_Missense_Mutation_p.K416E|CHEK2_ENST00000404276.1_Missense_Mutation_p.K373E|CHEK2_ENST00000382578.1_Missense_Mutation_p.K282E NM_001257387.1 NP_001244316.1 O96017 CHK2_HUMAN checkpoint kinase 2 373 FHA. cell cycle|DNA damage checkpoint|DNA damage response, signal transduction resulting in induction of apoptosis|replicative senescence PML body ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity p.K373E(9) central_nervous_system(17)|endometrium(2)|kidney(11)|large_intestine(2)|lung(11)|ovary(1)|prostate(4)|stomach(2) 50 CCCAAAATCTTGGAGTGCCCA 0.418000 F breast Direct reversal of damage;Other conserved DNA damage response genes 13 232 0 0 1 0 0 TCF7L1 83439 broad.mit.edu 37 2 85532397 85532397 + Missense_Mutation SNP G G A TCGA-FB-AAPZ-01A-11D-A40W-08 TCGA-FB-AAPZ-11A-11D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2feaf6e8-f76a-4c02-9536-689e3ad149de 3b27aea6-7bdb-48d4-9fef-c5748fef457d g.chr2:85532397G>A ENST00000282111.3 + 8 1135 c.860G>A c.(859-861)cGg>cAg p.R287Q NM_031283.2 NP_112573.1 Q9HCS4 TF7L1_HUMAN transcription factor 7-like 1 (T-cell specific, HMG-box) 287 Pro-rich. chromatin organization|regulation of Wnt receptor signaling pathway|Wnt receptor signaling pathway nucleus DNA binding|sequence-specific DNA binding transcription factor activity breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(3)|skin(4)|upper_aerodigestive_tract(1) 18 GTCTCCAGTCGGTTCTCTCCT 0.627000 146 447 0 0 1 0 0 ZNF132 7691 broad.mit.edu 37 19 58944797 58944797 + Missense_Mutation SNP G G A TCGA-FB-AAPZ-01A-11D-A40W-08 TCGA-FB-AAPZ-11A-11D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2feaf6e8-f76a-4c02-9536-689e3ad149de 3b27aea6-7bdb-48d4-9fef-c5748fef457d g.chr19:58944797G>A ENST00000254166.3 - 3 2414 c.2014C>T c.(2014-2016)Cgg>Tgg p.R672W NM_003433.3 NP_003424.3 P52740 ZN132_HUMAN zinc finger protein 132 672 nucleus DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding NS(2)|endometrium(2)|kidney(2)|large_intestine(6)|lung(1)|ovary(2)|pancreas(1)|skin(2)|upper_aerodigestive_tract(1) 19 all_cancers(17;4.4e-22)|all_epithelial(17;2.15e-16)|Lung NSC(17;1.24e-06)|all_lung(17;5.41e-06)|Colorectal(82;3.46e-05)|Renal(17;0.00179)|all_neural(62;0.00607)|Ovarian(87;0.0443)|Breast(46;0.0928)|Medulloblastoma(540;0.184) UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0171)|Lung(386;0.182) TTCTGGTGCCGAACAAGTGTA 0.448000 6 423 0 0 1 0 0 ACSM3 6296 broad.mit.edu 37 16 20781387 20781387 + Missense_Mutation SNP C C T TCGA-FB-AAPZ-01A-11D-A40W-08 TCGA-FB-AAPZ-11A-11D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2feaf6e8-f76a-4c02-9536-689e3ad149de 3b27aea6-7bdb-48d4-9fef-c5748fef457d g.chr16:20781387C>T ENST00000289416.5 + 2 506 c.31C>T c.(31-33)Cgt>Tgt p.R11C ACSM3_ENST00000440284.2_Missense_Mutation_p.R11C NM_005622.3 NP_005613.2 Q53FZ2 ACSM3_HUMAN acyl-CoA synthetase medium-chain family member 3 11 regulation of blood pressure mitochondrial matrix ATP binding|butyrate-CoA ligase activity|metal ion binding breast(1)|endometrium(5)|kidney(2)|large_intestine(1)|lung(9)|ovary(1)|prostate(2) 21 GAAGATGCTACGTCATGCCAA 0.438000 171 111 0 0 1 0 0 ZNF546 339327 broad.mit.edu 37 19 40520572 40520572 + Silent SNP T T C TCGA-FB-AAPZ-01A-11D-A40W-08 TCGA-FB-AAPZ-11A-11D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2feaf6e8-f76a-4c02-9536-689e3ad149de 3b27aea6-7bdb-48d4-9fef-c5748fef457d g.chr19:40520572T>C ENST00000347077.4 + 7 1611 c.1395T>C c.(1393-1395)ggT>ggC p.G465G ZNF546_ENST00000600094.1_Silent_p.G439G|ZNF546_ENST00000596894.1_Intron NM_178544.3 NP_848639.2 Q86UE3 ZN546_HUMAN zinc finger protein 546 465 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding breast(1)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(15)|lung(6)|ovary(3)|skin(2)|upper_aerodigestive_tract(3) 34 all_cancers(60;9.55e-06)|all_lung(34;1.17e-07)|Lung NSC(34;1.41e-07)|Ovarian(47;0.0925) CTCATACTGGTGAGAAACCCT 0.403000 205 311 0 0 1 0 0 GTF2IRD2P1 0 broad.mit.edu 37 7 72663998 72663998 + RNA SNP T T G TCGA-FB-AAPZ-01A-11D-A40W-08 TCGA-FB-AAPZ-11A-11D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2feaf6e8-f76a-4c02-9536-689e3ad149de 3b27aea6-7bdb-48d4-9fef-c5748fef457d g.chr7:72663998T>G ENST00000425256.1 - 0 902 NR_002164.1 ATAGCCGGGGTCCTTGAATAC 0.488000 6 178 0 0 1 0 0 GLYAT 10249 broad.mit.edu 37 11 58477299 58477299 + Nonsense_Mutation SNP G G T TCGA-FB-AAPZ-01A-11D-A40W-08 TCGA-FB-AAPZ-11A-11D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2feaf6e8-f76a-4c02-9536-689e3ad149de 3b27aea6-7bdb-48d4-9fef-c5748fef457d g.chr11:58477299G>T ENST00000344743.3 - 6 972 c.831C>A c.(829-831)taC>taA p.Y277* GLYAT_ENST00000529732.1_Nonsense_Mutation_p.Y277* NM_201648.2 NP_964011.2 Q6IB77 GLYAT_HUMAN glycine-N-acyltransferase 277 acyl-CoA metabolic process|response to toxin|xenobiotic metabolic process mitochondrial matrix glycine N-acyltransferase activity|glycine N-benzoyltransferase activity NS(1)|autonomic_ganglia(1)|kidney(1)|large_intestine(3)|lung(8)|skin(1)|urinary_tract(1) 16 Breast(21;0.0044)|all_epithelial(135;0.0157) Glycine(DB00145) GTTGCAGTGTGTAACTCATTT 0.463000 5 243 0.0215528 0.0216818 1 1 0 FAM5C 0 broad.mit.edu 37 1 190067294 190067294 + Missense_Mutation SNP G G A TCGA-FB-AAPZ-01A-11D-A40W-08 TCGA-FB-AAPZ-11A-11D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2feaf6e8-f76a-4c02-9536-689e3ad149de 3b27aea6-7bdb-48d4-9fef-c5748fef457d g.chr1:190067294G>A ENST00000367462.3 - 8 2386 c.2155C>T c.(2155-2157)Cgt>Tgt p.R719C FAM5C_ENST00000484105.1_5'UTR|FAM5C_ENST00000534846.1_Missense_Mutation_p.R617C NM_199051.1 NP_950252.1 Q76B58 FAM5C_HUMAN 719 extracellular region p.R719C(1) NS(1)|breast(5)|endometrium(8)|haematopoietic_and_lymphoid_tissue(6)|kidney(8)|large_intestine(18)|lung(98)|ovary(3)|prostate(3)|skin(5)|upper_aerodigestive_tract(7)|urinary_tract(2) 164 Prostate(682;0.198) TCTAGACGACGCTGACCAGGT 0.488000 139 191 0 0 1 0 0 KRAS 3845 broad.mit.edu 37 12 25398285 25398285 + Missense_Mutation SNP C C G rs121913530 TCGA-FB-AAPZ-01A-11D-A40W-08 TCGA-FB-AAPZ-11A-11D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2feaf6e8-f76a-4c02-9536-689e3ad149de 3b27aea6-7bdb-48d4-9fef-c5748fef457d g.chr12:25398285C>G ENST00000311936.3 - 2 225 c.34G>C c.(34-36)Ggt>Cgt p.G12R KRAS_ENST00000557334.1_Missense_Mutation_p.G12R|KRAS_ENST00000256078.4_Missense_Mutation_p.G12R|KRAS_ENST00000556131.1_Missense_Mutation_p.G12R NM_004985.3 NP_004976.2 P01116 RASK_HUMAN Kirsten rat sarcoma viral oncogene homolog 12 G -> A (in a colorectal cancer sample; somatic mutation).|G -> C (in lung carcinoma; somatic mutation).|G -> D (in pancreatic carcinoma, GASC and lung carcinoma; somatic mutation).|G -> R (in lung cancer and bladder cancer; somatic mutation).|G -> S (in lung carcinoma and GASC; somatic mutation).|G -> V (in lung carcinoma, pancreatic carcinoma, colon cancer and GASC; somatic mutation). activation of MAPKK activity|axon guidance|blood coagulation|epidermal growth factor receptor signaling pathway|insulin receptor signaling pathway|leukocyte migration|nerve growth factor receptor signaling pathway|Ras protein signal transduction plasma membrane GTP binding|GTPase activity|protein binding p.G12C(3001)|p.G12S(1288)|p.G12R(789)|p.G12F(46)|p.G12L(8)|p.G12I(4)|p.G12W(3)|p.A11_G12insGA(2)|p.G12Y(2)|p.G12N(1) UBE2L3/KRAS(2) NS(6)|adrenal_gland(1)|autonomic_ganglia(3)|biliary_tract(532)|bone(2)|breast(32)|central_nervous_system(14)|cervix(50)|endometrium(411)|eye(4)|gastrointestinal_tract_(site_indeterminate)(7)|genital_tract(1)|haematopoietic_and_lymphoid_tissue(385)|kidney(8)|large_intestine(15267)|liver(29)|lung(3407)|oesophagus(16)|ovary(612)|pancreas(3739)|penis(1)|peritoneum(6)|prostate(96)|salivary_gland(6)|skin(45)|small_intestine(68)|soft_tissue(88)|stomach(207)|testis(17)|thymus(5)|thyroid(159)|upper_aerodigestive_tract(68)|urinary_tract(57) 25349 all_cancers(2;1e-35)|all_epithelial(2;1.97e-38)|all_lung(3;2.1e-23)|Lung NSC(3;1.16e-22)|Acute lymphoblastic leukemia(6;0.00231)|all_hematologic(7;0.00259)|Melanoma(3;0.0301)|Colorectal(261;0.11)|Ovarian(17;0.12) OV - Ovarian serous cystadenocarcinoma(3;1.23e-21)|Epithelial(3;1.31e-20)|all cancers(3;5.45e-18)|STAD - Stomach adenocarcinoma(2;2.68e-05) CCTACGCCACCAGCTCCAACT 0.348000 G12C(CALU1_LUNG)|G12C(HCC44_LUNG)|G12C(IALM_LUNG)|G12C(KHM1B_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12C(KYSE410_OESOPHAGUS)|G12C(LU65_LUNG)|G12C(LU99_LUNG)|G12C(MIAPACA2_PANCREAS)|G12C(NCIH1373_LUNG)|G12C(NCIH1792_LUNG)|G12C(NCIH2030_LUNG)|G12C(NCIH2122_LUNG)|G12C(NCIH23_LUNG)|G12C(NCIH358_LUNG)|G12C(OV56_OVARY)|G12C(SW1463_LARGE_INTESTINE)|G12C(SW1573_LUNG)|G12C(SW837_LARGE_INTESTINE)|G12C(UMUC3_URINARY_TRACT)|G12R(CAL62_THYROID)|G12R(HS274T_BREAST)|G12R(HUPT3_PANCREAS)|G12R(KP2_PANCREAS)|G12R(PSN1_PANCREAS)|G12R(TCCPAN2_PANCREAS)|G12S(A549_LUNG)|G12S(KMS20_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12S(LS123_LARGE_INTESTINE) 119 Mis """pancreatic, colorectal, lung, thyroid, AML, others""" Noonan syndrome;Cardiofaciocutaneous syndrome TSP Lung(1;<1E-08)|Multiple Myeloma(2;<1E-6) 79 152 0 0 1 0 0 PSG11 5680 broad.mit.edu 37 19 43523094 43523094 + Silent SNP C C T TCGA-FB-AAPZ-01A-11D-A40W-08 TCGA-FB-AAPZ-11A-11D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2feaf6e8-f76a-4c02-9536-689e3ad149de 3b27aea6-7bdb-48d4-9fef-c5748fef457d g.chr19:43523094C>T ENST00000401740.1 - 3 640 c.537G>A c.(535-537)ctG>ctA p.L179L PSG11_ENST00000595312.1_5'UTR|PSG11_ENST00000403486.1_Silent_p.L57L|PSG11_ENST00000320078.7_Silent_p.L179L|PSG11_ENST00000306322.7_Silent_p.L57L Q9UQ72 PSG11_HUMAN pregnancy specific beta-1-glycoprotein 11 179 Ig-like C2-type 1. female pregnancy extracellular region breast(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(15)|prostate(2)|stomach(1)|upper_aerodigestive_tract(1) 26 Prostate(69;0.00682) TCATCCACCACAGGTAGCTTG 0.512000 766 1160 0 0 1 0 0 TNNI3 7137 broad.mit.edu 37 19 55665406 55665406 + Missense_Mutation SNP T T G TCGA-FB-AAPZ-01A-11D-A40W-08 TCGA-FB-AAPZ-11A-11D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2feaf6e8-f76a-4c02-9536-689e3ad149de 3b27aea6-7bdb-48d4-9fef-c5748fef457d g.chr19:55665406T>G ENST00000344887.5 - 7 683 c.541A>C c.(541-543)Acc>Ccc p.T181P TNNI3_ENST00000588882.1_Missense_Mutation_p.T156P NM_000363.4 NP_000354.4 P19429 TNNI3_HUMAN troponin I type 3 (cardiac) 181 cardiac muscle contraction|cellular calcium ion homeostasis|muscle filament sliding|negative regulation of ATPase activity|regulation of systemic arterial blood pressure by ischemic conditions|vasculogenesis|ventricular cardiac muscle tissue morphogenesis cytosol|troponin complex actin binding|calcium channel inhibitor activity|calcium-dependent protein binding|protein domain specific binding|protein kinase binding|troponin C binding|troponin T binding endometrium(2)|kidney(1)|large_intestine(1)|lung(6)|pancreas(1)|urinary_tract(1) 12 BRCA - Breast invasive adenocarcinoma(297;0.209) GBM - Glioblastoma multiforme(193;0.0452) ACCTTCTCGGTGTCCTCCTTC 0.627000 252 376 0 0 1 0 0 ADAMTS19 171019 broad.mit.edu 37 5 129039960 129039960 + Missense_Mutation SNP G G A TCGA-FB-AAPZ-01A-11D-A40W-08 TCGA-FB-AAPZ-11A-11D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2feaf6e8-f76a-4c02-9536-689e3ad149de 3b27aea6-7bdb-48d4-9fef-c5748fef457d g.chr5:129039960G>A ENST00000274487.4 + 21 3315 c.3170G>A c.(3169-3171)cGt>cAt p.R1057H ADAMTS19_ENST00000509467.1_3'UTR|CTC-575N7.1_ENST00000503616.1_RNA NM_133638.3 NP_598377.3 Q8TE59 ATS19_HUMAN ADAM metallopeptidase with thrombospondin type 1 motif, 19 1057 TSP type-1 4. proteolysis proteinaceous extracellular matrix metalloendopeptidase activity|zinc ion binding NS(1)|breast(4)|endometrium(10)|kidney(9)|large_intestine(14)|lung(34)|ovary(6)|pancreas(1)|prostate(6)|skin(6) 91 all_cancers(142;0.0148)|Prostate(80;0.0494)|Breast(839;0.238) KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365) OV - Ovarian serous cystadenocarcinoma(64;0.222) AAAGGCATACGTCATCGGACC 0.423000 46 687 0 0 1 0 0 GBA 2629 broad.mit.edu 37 1 155209725 155209725 + Translation_Start_Site SNP G G A rs1141814 TCGA-FB-AAPZ-01A-11D-A40W-08 TCGA-FB-AAPZ-11A-11D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2feaf6e8-f76a-4c02-9536-689e3ad149de 3b27aea6-7bdb-48d4-9fef-c5748fef457d g.chr1:155209725G>A ENST00000428024.2 - 0 500 GBA_ENST00000327247.5_Missense_Mutation_p.R87W|GBA_ENST00000368373.3_Missense_Mutation_p.R87W|GBA_ENST00000536770.1_Intron|GBA_ENST00000493842.1_5'UTR|GBA_ENST00000427500.2_Missense_Mutation_p.R87W NM_001171811.1 NP_001165282.1 P04062 GLCM_HUMAN glucosidase, beta, acid carbohydrate metabolic process|cell death|cellular response to tumor necrosis factor|ceramide biosynthetic process|glucosylceramide catabolic process|lysosome organization|negative regulation of interleukin-6 production|negative regulation of MAP kinase activity|positive regulation of protein dephosphorylation|sphingosine biosynthetic process|termination of signal transduction lysosomal lumen|lysosomal membrane cation binding|glucosylceramidase activity|receptor binding breast(1)|central_nervous_system(1)|endometrium(1)|kidney(3)|large_intestine(3)|lung(9)|ovary(3)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(2) 26 all_lung(78;2.32e-23)|Hepatocellular(266;0.0877)|all_hematologic(923;0.088) Epithelial(20;3.72e-10)|all cancers(21;1.19e-09)|BRCA - Breast invasive adenocarcinoma(34;0.000752)|LUSC - Lung squamous cell carcinoma(543;0.193) Alglucerase(DB00088)|Imiglucerase(DB00053) AGCTCCATCCGTCGCCCACTG 0.592000 Gaucher disease type I 13 126 0 0 1 0 0 FRG1B 0 broad.mit.edu 37 20 29625934 29625934 + Missense_Mutation SNP C C T TCGA-FB-AAPZ-01A-11D-A40W-08 TCGA-FB-AAPZ-11A-11D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2feaf6e8-f76a-4c02-9536-689e3ad149de 3b27aea6-7bdb-48d4-9fef-c5748fef457d g.chr20:29625934C>T ENST00000278882.3 + 5 558 c.178C>T c.(178-180)Cat>Tat p.H60Y FRG1B_ENST00000358464.4_Missense_Mutation_p.H60Y|FRG1B_ENST00000439954.2_Missense_Mutation_p.H65Y endometrium(10)|kidney(21)|lung(3)|pancreas(1)|prostate(9)|urinary_tract(9) 53 ACTTGTTGGGCATTCAGATGC 0.338000 10 355 0 0 1 0 0 LL22NC03-80A10.6 0 broad.mit.edu 37 22 22664186 22664186 + RNA SNP A A G TCGA-FB-AAPZ-01A-11D-A40W-08 TCGA-FB-AAPZ-11A-11D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2feaf6e8-f76a-4c02-9536-689e3ad149de 3b27aea6-7bdb-48d4-9fef-c5748fef457d g.chr22:22664186A>G ENST00000426066.1 + 0 709 NR_027293.1 CAGATCAAGAAAGCACTCTGA 0.498000 7 382 0 0 1 0 0 ZNF845 91664 broad.mit.edu 37 19 53856761 53856761 + Missense_Mutation SNP T T C TCGA-FB-AAPZ-01A-11D-A40W-08 TCGA-FB-AAPZ-11A-11D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2feaf6e8-f76a-4c02-9536-689e3ad149de 3b27aea6-7bdb-48d4-9fef-c5748fef457d g.chr19:53856761T>C ENST00000458035.1 + 4 2950 c.2833T>C c.(2833-2835)Tgt>Cgt p.C945R ZNF845_ENST00000595091.1_Missense_Mutation_p.C945R NM_138374.1 NP_612383.1 Q96IR2 ZN845_HUMAN zinc finger protein 845 945 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding p.C945R(1) endometrium(2)|kidney(10)|lung(7)|pancreas(1)|prostate(1)|skin(2)|stomach(1)|urinary_tract(2) 26 ACCTTACAAGTGTAATGAATG 0.348000 8 196 0 0 1 0 0 SPATA31D1 389763 broad.mit.edu 37 9 84606551 84606551 + Missense_Mutation SNP T T C TCGA-FB-AAPZ-01A-11D-A40W-08 TCGA-FB-AAPZ-11A-11D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2feaf6e8-f76a-4c02-9536-689e3ad149de 3b27aea6-7bdb-48d4-9fef-c5748fef457d g.chr9:84606551T>C ENST00000344803.2 + 4 1213 c.1166T>C c.(1165-1167)tTt>tCt p.F389S NM_001001670.2 NP_001001670.1 SPATA31 subfamily D, member 1 TCTGAGGCCTTTTTAGGGGGG 0.473000 7 269 0 0 1 0 0 AMZ2P1 0 broad.mit.edu 37 17 62968690 62968690 + RNA SNP A A G rs138671696 by1000genomes TCGA-FB-AAPZ-01A-11D-A40W-08 TCGA-FB-AAPZ-11A-11D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2feaf6e8-f76a-4c02-9536-689e3ad149de 3b27aea6-7bdb-48d4-9fef-c5748fef457d g.chr17:62968690A>G ENST00000430983.1 - 0 1554 NR_026903.1 AAAATTCCACAAGTCTCTTGG 0.373000 11 471 0 0 1 0 0 PHACTR3 116154 broad.mit.edu 37 20 58381152 58381152 + Missense_Mutation SNP C C T TCGA-FB-AAPZ-01A-11D-A40W-08 TCGA-FB-AAPZ-11A-11D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2feaf6e8-f76a-4c02-9536-689e3ad149de 3b27aea6-7bdb-48d4-9fef-c5748fef457d g.chr20:58381152C>T ENST00000371015.1 + 8 1698 c.1231C>T c.(1231-1233)Cca>Tca p.P411S PHACTR3_ENST00000359926.3_Missense_Mutation_p.P408S|PHACTR3_ENST00000541461.1_Missense_Mutation_p.P370S|PHACTR3_ENST00000395636.2_Missense_Mutation_p.P370S|PHACTR3_ENST00000361300.4_Missense_Mutation_p.P300S|PHACTR3_ENST00000355648.4_Missense_Mutation_p.P370S|PHACTR3_ENST00000395639.4_Missense_Mutation_p.P300S NM_080672.3 NP_542403.1 Q96KR7 PHAR3_HUMAN phosphatase and actin regulator 3 411 nuclear matrix actin binding|protein phosphatase inhibitor activity endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(13)|liver(2)|lung(32)|ovary(3)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2) 59 all_lung(29;0.00344) BRCA - Breast invasive adenocarcinoma(7;2.76e-09) AAGGAACCGGCCAAGCAAACA 0.512000 458 594 0 0 1 0 0 ITSN2 50618 broad.mit.edu 37 2 24432754 24432754 + Missense_Mutation SNP G G A TCGA-FB-AAPZ-01A-11D-A40W-08 TCGA-FB-AAPZ-11A-11D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2feaf6e8-f76a-4c02-9536-689e3ad149de 3b27aea6-7bdb-48d4-9fef-c5748fef457d g.chr2:24432754G>A ENST00000355123.4 - 35 4849 c.4406C>T c.(4405-4407)gCt>gTt p.A1469V ITSN2_ENST00000361999.3_Missense_Mutation_p.A1442V NM_006277.2 NP_006268.2 Q9NZM3 ITSN2_HUMAN intersectin 2 1469 PH. endocytosis|regulation of Rho protein signal transduction cytoplasm calcium ion binding|Rho guanyl-nucleotide exchange factor activity|SH3/SH2 adaptor activity breast(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(8)|large_intestine(11)|liver(3)|lung(28)|ovary(2)|stomach(1) 61 Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215) AGAGGAAACAGCAAACTGCTT 0.448000 6 697 0 0 1 0 0 OR4Q3 441669 broad.mit.edu 37 14 20215715 20215715 + Silent SNP C C A TCGA-FB-AAPZ-01A-11D-A40W-08 TCGA-FB-AAPZ-11A-11D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2feaf6e8-f76a-4c02-9536-689e3ad149de 3b27aea6-7bdb-48d4-9fef-c5748fef457d g.chr14:20215715C>A ENST00000331723.1 + 1 129 c.129C>A c.(127-129)ctC>ctA p.L43L NM_172194.1 NP_751944.1 Q8NH05 OR4Q3_HUMAN olfactory receptor, family 4, subfamily Q, member 3 43 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity NS(2)|breast(4)|endometrium(3)|kidney(2)|large_intestine(1)|lung(28)|pancreas(1)|skin(4)|upper_aerodigestive_tract(2) 47 all_cancers(95;0.00108) Epithelial(56;9.96e-07)|all cancers(55;2.95e-06) GBM - Glioblastoma multiforme(265;0.00327) TGGGAAACCTCTTGATAGTGG 0.408000 436 435 1.03157e-228 1.17097e-228 1 1 0 THRAP3 9967 broad.mit.edu 37 1 36752394 36752394 + Missense_Mutation SNP G G A TCGA-FB-AAPZ-01A-11D-A40W-08 TCGA-FB-AAPZ-11A-11D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2feaf6e8-f76a-4c02-9536-689e3ad149de 3b27aea6-7bdb-48d4-9fef-c5748fef457d g.chr1:36752394G>A ENST00000354618.5 + 4 787 c.563G>A c.(562-564)cGg>cAg p.R188Q THRAP3_ENST00000469141.2_Missense_Mutation_p.R188Q NM_005119.3 NP_005110.2 Q9Y2W1 TR150_HUMAN thyroid hormone receptor associated protein 3 188 Ser-rich. androgen receptor signaling pathway|positive regulation of transcription from RNA polymerase II promoter|transcription initiation from RNA polymerase II promoter mediator complex ATP binding|ligand-dependent nuclear receptor transcription coactivator activity|receptor activity|RNA polymerase II transcription cofactor activity|thyroid hormone receptor binding|vitamin D receptor binding breast(1)|cervix(1)|endometrium(5)|kidney(3)|large_intestine(9)|lung(12)|ovary(5)|stomach(1) 37 Myeloproliferative disorder(586;0.0255)|all_neural(195;0.164) AAGGATAGCCGGCCATCTCAG 0.527000 T USP6 aneurysmal bone cysts 6 785 0 0 1 0 0 SAGE1 55511 broad.mit.edu 37 X 134994561 134994561 + Missense_Mutation SNP A A G TCGA-FB-AAPZ-01A-11D-A40W-08 TCGA-FB-AAPZ-11A-11D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2feaf6e8-f76a-4c02-9536-689e3ad149de 3b27aea6-7bdb-48d4-9fef-c5748fef457d g.chrX:134994561A>G ENST00000535938.1 + 19 2770 c.2603A>G c.(2602-2604)aAg>aGg p.K868R SAGE1_ENST00000324447.3_Missense_Mutation_p.K868R|SAGE1_ENST00000537770.1_Missense_Mutation_p.K492R|SAGE1_ENST00000370709.3_Missense_Mutation_p.K868R NM_018666.2 NP_061136.2 Q9NXZ1 SAGE1_HUMAN sarcoma antigen 1 868 breast(5)|endometrium(5)|large_intestine(10)|lung(23)|ovary(3)|pancreas(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1) 55 Acute lymphoblastic leukemia(192;0.000127) TTTACCATCAAGGAAGCAGCA 0.368000 6 492 0 0 1 0 0 OTUD4 54726 broad.mit.edu 37 4 146059041 146059041 + Silent SNP A A G TCGA-FB-AAPZ-01A-11D-A40W-08 TCGA-FB-AAPZ-11A-11D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2feaf6e8-f76a-4c02-9536-689e3ad149de 3b27aea6-7bdb-48d4-9fef-c5748fef457d g.chr4:146059041A>G ENST00000454497.2 - 21 2828 c.2691T>C c.(2689-2691)caT>caC p.H897H OTUD4_ENST00000455611.2_Intron|OTUD4_ENST00000447906.2_Silent_p.H962H NM_001102653.1 NP_001096123.1 Q01804 OTUD4_HUMAN OTU domain containing 4 961 protein binding breast(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(9)|lung(10)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(2) 33 all_hematologic(180;0.151) GAGTGGGAGGATGAGCCTTTC 0.478000 7 532 0 0 1 0 0 BEGAIN 57596 broad.mit.edu 37 14 101004539 101004539 + Missense_Mutation SNP C C T TCGA-FB-AAPZ-01A-11D-A40W-08 TCGA-FB-AAPZ-11A-11D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2feaf6e8-f76a-4c02-9536-689e3ad149de 3b27aea6-7bdb-48d4-9fef-c5748fef457d g.chr14:101004539C>T ENST00000556751.1 - 5 4761 c.1357G>A c.(1357-1359)Gag>Aag p.E453K BEGAIN_ENST00000443071.2_Missense_Mutation_p.E517K|BEGAIN_ENST00000355173.2_Missense_Mutation_p.E517K Q9BUH8 BEGIN_HUMAN brain-enriched guanylate kinase-associated 517 cytoplasm|membrane protein binding cervix(1)|endometrium(4)|large_intestine(2)|lung(3)|prostate(1)|skin(2)|stomach(1) 14 Melanoma(154;0.212) TCCCCCCCCTCGCTGGGTGCA 0.731000 20 18 0 0 1 0 0 IYD 389434 broad.mit.edu 37 6 150715311 150715311 + Missense_Mutation SNP G G A TCGA-FB-AAPZ-01A-11D-A40W-08 TCGA-FB-AAPZ-11A-11D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2feaf6e8-f76a-4c02-9536-689e3ad149de 3b27aea6-7bdb-48d4-9fef-c5748fef457d g.chr6:150715311G>A ENST00000344419.3 + 4 747 c.607G>A c.(607-609)Gca>Aca p.A203T IYD_ENST00000392255.3_Missense_Mutation_p.A203T|IYD_ENST00000500320.3_Missense_Mutation_p.A203T|IYD_ENST00000425615.3_Missense_Mutation_p.A148T|IYD_ENST00000229447.5_Missense_Mutation_p.A203T|IYD_ENST00000392256.2_Missense_Mutation_p.A203T NM_203395.2 NP_981932.1 Q6PHW0 IYD1_HUMAN iodotyrosine deiodinase 203 cellular nitrogen compound metabolic process|hormone biosynthetic process integral to membrane|plasma membrane breast(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(3)|ovary(2)|upper_aerodigestive_tract(2)|urinary_tract(1) 15 Ovarian(120;0.028) BRCA - Breast invasive adenocarcinoma(37;0.215) OV - Ovarian serous cystadenocarcinoma(155;4.16e-12) TGGTTTCGCCGCAAATGGCAA 0.433000 6 357 0 0 1 0 0 C5orf34 375444 broad.mit.edu 37 5 43508741 43508741 + Nonsense_Mutation SNP G G A rs143336043 TCGA-FB-AAPZ-01A-11D-A40W-08 TCGA-FB-AAPZ-11A-11D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2feaf6e8-f76a-4c02-9536-689e3ad149de 3b27aea6-7bdb-48d4-9fef-c5748fef457d g.chr5:43508741G>A ENST00000306862.2 - 3 598 c.223C>T c.(223-225)Cga>Tga p.R75* RP11-159F24.3_ENST00000505645.1_RNA NM_198566.2 NP_940968.1 Q96MH7 CE034_HUMAN chromosome 5 open reading frame 34 75 p.R75*(1) breast(2)|endometrium(2)|large_intestine(2)|lung(11)|ovary(1)|prostate(1)|stomach(2) 21 Lung NSC(6;2.07e-05) GAAGAGTTTCGAAAATCTAGG 0.289000 179 306 0 0 1 0 0 EHBP1 23301 broad.mit.edu 37 2 63223823 63223823 + Missense_Mutation SNP G G A TCGA-FB-AAPZ-01A-11D-A40W-08 TCGA-FB-AAPZ-11A-11D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2feaf6e8-f76a-4c02-9536-689e3ad149de 3b27aea6-7bdb-48d4-9fef-c5748fef457d g.chr2:63223823G>A ENST00000263991.5 + 21 3720 c.3238G>A c.(3238-3240)Gca>Aca p.A1080T EHBP1_ENST00000431489.1_Missense_Mutation_p.A1009T|EHBP1_ENST00000405289.1_Missense_Mutation_p.A1045T|EHBP1_ENST00000354487.3_Missense_Mutation_p.A1045T|EHBP1_ENST00000496857.1_3'UTR|EHBP1_ENST00000405015.3_Missense_Mutation_p.A1009T NM_015252.3 NP_056067.2 Q8NDI1 EHBP1_HUMAN EH domain binding protein 1 1080 cytoplasm|membrane biliary_tract(1)|breast(3)|cervix(1)|endometrium(4)|kidney(4)|large_intestine(8)|lung(22)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1) 47 Lung NSC(7;0.0951)|all_lung(7;0.169) LUSC - Lung squamous cell carcinoma(7;7.74e-05)|Epithelial(17;0.189) AGAATTGGCAGCACTAGAGAA 0.443000 5 426 0 0 1 0 0 TP53 7157 broad.mit.edu 37 17 7578212 7578212 + Nonsense_Mutation SNP G G A TCGA-FB-AAPZ-01A-11D-A40W-08 TCGA-FB-AAPZ-11A-11D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2feaf6e8-f76a-4c02-9536-689e3ad149de 3b27aea6-7bdb-48d4-9fef-c5748fef457d g.chr17:7578212G>A ENST00000420246.2 - 6 769 c.637C>T c.(637-639)Cga>Tga p.R213* TP53_ENST00000269305.4_Nonsense_Mutation_p.R213*|TP53_ENST00000574684.1_Intron|TP53_ENST00000445888.2_Nonsense_Mutation_p.R213*|TP53_ENST00000359597.4_Nonsense_Mutation_p.R213*|TP53_ENST00000455263.2_Nonsense_Mutation_p.R213*|TP53_ENST00000413465.2_Nonsense_Mutation_p.R213* NM_001126114.2|NM_001276696.1 NP_001119586.1|NP_001263625.1 P04637 P53_HUMAN tumor protein p53 213 Interaction with AXIN1 (By similarity).|Interaction with HIPK1 (By similarity).|Required for interaction with FBXO42. R -> G (in sporadic cancers; somatic mutation).|R -> L (in sporadic cancers; somatic mutation).|R -> P (in LFS; germline mutation and in sporadic cancers; somatic mutation).|R -> Q (in LFS; germline mutation and in sporadic cancers; somatic mutation).|R -> W (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.R213*(250)|p.R81*(21)|p.R120*(21)|p.0?(8)|p.?(5)|p.R213G(5)|p.R213fs*35(3)|p.R213fs*34(3)|p.D208_V216delDRNTFRHSV(1)|p.R120G(1)|p.D207_R213delDDRNTFR(1)|p.T211_S215delTFRHS(1)|p.R81fs*>11(1)|p.D208fs*1(1)|p.R120fs*35(1)|p.R81G(1)|p.R209_R213delRNTFR(1)|p.R213fs*2(1)|p.T211fs*28(1)|p.R213_S215>X(1)|p.D207_V216del10(1)|p.R213R(1)|p.R213fs*32(1)|p.R209fs*6(1)|p.R213W(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) ACACTATGTCGAAAAGTGTTT 0.532000 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) 117 53 0 0 1 0 0 ZNF845 91664 broad.mit.edu 37 19 53856702 53856702 + Missense_Mutation SNP G G A rs150688663 by1000genomes TCGA-FB-AAPZ-01A-11D-A40W-08 TCGA-FB-AAPZ-11A-11D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2feaf6e8-f76a-4c02-9536-689e3ad149de 3b27aea6-7bdb-48d4-9fef-c5748fef457d g.chr19:53856702G>A ENST00000458035.1 + 4 2891 c.2774G>A c.(2773-2775)cGt>cAt p.R925H ZNF845_ENST00000595091.1_Missense_Mutation_p.R925H NM_138374.1 NP_612383.1 Q96IR2 ZN845_HUMAN zinc finger protein 845 925 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding p.R925H(3) endometrium(2)|kidney(10)|lung(7)|pancreas(1)|prostate(1)|skin(2)|stomach(1)|urinary_tract(2) 26 AAAACCTTCCGTCACAATTCA 0.363000 5 213 0 0 1 0 0 ZNF48 197407 broad.mit.edu 37 16 30410328 30410328 + Missense_Mutation SNP G G A TCGA-FB-AAPZ-01A-11D-A40W-08 TCGA-FB-AAPZ-11A-11D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2feaf6e8-f76a-4c02-9536-689e3ad149de 3b27aea6-7bdb-48d4-9fef-c5748fef457d g.chr16:30410328G>A ENST00000320159.2 + 2 2133 c.1757G>A c.(1756-1758)cGc>cAc p.R586H NM_001214906.1|NM_001214907.1|NM_001214909.1|NM_152652.2 NP_001201835.1|NP_001201836.1|NP_001201838.1|NP_689865.2 Q96MX3 ZNF48_HUMAN zinc finger protein 48 586 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding breast(1)|endometrium(3)|kidney(1)|large_intestine(1)|lung(11)|ovary(2)|pancreas(1)|skin(1) 21 AGTTCTGCCCGCATCAAGCAC 0.592000 6 568 0 0 1 0 0 PEX7 5191 broad.mit.edu 37 6 137193340 137193340 + Missense_Mutation SNP C C T TCGA-FB-AAPZ-01A-11D-A40W-08 TCGA-FB-AAPZ-11A-11D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2feaf6e8-f76a-4c02-9536-689e3ad149de 3b27aea6-7bdb-48d4-9fef-c5748fef457d g.chr6:137193340C>T ENST00000318471.4 + 8 833 c.752C>T c.(751-753)tCa>tTa p.S251L PEX7_ENST00000541292.1_3'UTR NM_000288.3 NP_000279.1 O00628 PEX7_HUMAN peroxisomal biogenesis factor 7 251 ether lipid biosynthetic process|protein import into peroxisome matrix peroxisome peroxisome matrix targeting signal-2 binding lung(7)|prostate(1) 8 Colorectal(23;0.24) GBM - Glioblastoma multiforme(68;0.000257)|OV - Ovarian serous cystadenocarcinoma(155;0.00492) TTGTAGTTTTCACCATTTCAT 0.303000 7 307 0 0 1 0 0 KANSL1L 151050 broad.mit.edu 37 2 210887849 210887849 + Missense_Mutation SNP A A T rs145783202 TCGA-FB-AAPZ-01A-11D-A40W-08 TCGA-FB-AAPZ-11A-11D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2feaf6e8-f76a-4c02-9536-689e3ad149de 3b27aea6-7bdb-48d4-9fef-c5748fef457d g.chr2:210887849A>T ENST00000281772.9 - 15 3051 c.2788T>A c.(2788-2790)Tta>Ata p.L930I KANSL1L_ENST00000418791.1_Missense_Mutation_p.L888I NM_152519.2 NP_689732.2 A0AUZ9 CB067_HUMAN KAT8 regulatory NSL complex subunit 1-like 930 TGACATAATAAGGCTGCCATG 0.433000 97 403 0 0 1 0 0 ANO1 55107 broad.mit.edu 37 11 69978186 69978186 + Splice_Site SNP G G A TCGA-FB-AAPZ-01A-11D-A40W-08 TCGA-FB-AAPZ-11A-11D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2feaf6e8-f76a-4c02-9536-689e3ad149de 3b27aea6-7bdb-48d4-9fef-c5748fef457d g.chr11:69978186G>A ENST00000355303.5 + 11 1563 c.e11+1 ANO1_ENST00000316296.5_Splice_Site|ANO1_ENST00000538023.1_Splice_Site|ANO1_ENST00000398543.2_Splice_Site|RP11-805J14.3_ENST00000530525.1_RNA|ANO1_ENST00000530676.1_Splice_Site|ANO1_ENST00000531349.1_Splice_Site NM_018043.5 NP_060513.5 Q5XXA6 ANO1_HUMAN anoctamin 1, calcium activated chloride channel multicellular organismal development chloride channel complex|cytoplasm|plasma membrane intracellular calcium activated chloride channel activity central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(3)|lung(12)|ovary(3)|pancreas(1)|upper_aerodigestive_tract(1) 29 GCCCTCTGGGGTAAGCAGGGC 0.597000 19 54 0 0 1 0 0 GGT3P 0 broad.mit.edu 37 22 18769145 18769145 + RNA SNP G G A TCGA-FB-AAPZ-01A-11D-A40W-08 TCGA-FB-AAPZ-11A-11D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2feaf6e8-f76a-4c02-9536-689e3ad149de 3b27aea6-7bdb-48d4-9fef-c5748fef457d g.chr22:18769145G>A ENST00000412448.1 - 0 1141 TGAGGCTGCCGTTGTAGAAGG 0.612000 18 32 0 0 1 0 0 VWF 7450 broad.mit.edu 37 12 6105363 6105363 + Silent SNP C C T TCGA-FB-AAPZ-01A-11D-A40W-08 TCGA-FB-AAPZ-11A-11D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2feaf6e8-f76a-4c02-9536-689e3ad149de 3b27aea6-7bdb-48d4-9fef-c5748fef457d g.chr12:6105363C>T ENST00000261405.5 - 35 6122 c.5868G>A c.(5866-5868)cgG>cgA p.R1956R NM_000552.3 NP_000543.2 P04275 VWF_HUMAN von Willebrand factor 1956 VWFD 4. blood coagulation, intrinsic pathway|cell-substrate adhesion|platelet activation|platelet degranulation|protein homooligomerization endoplasmic reticulum|platelet alpha granule lumen|proteinaceous extracellular matrix|Weibel-Palade body chaperone binding|collagen binding|glycoprotein binding|immunoglobulin binding|integrin binding|protease binding|protein homodimerization activity|protein N-terminus binding NS(1)|breast(6)|central_nervous_system(5)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(25)|lung(41)|ovary(7)|pancreas(2)|prostate(6)|skin(15)|stomach(1)|upper_aerodigestive_tract(5) 129 Antihemophilic Factor(DB00025) TCACGATGTGCCGAGTGGAGC 0.522000 4 160 0 0 1 0 0 ROCK1 6093 broad.mit.edu 37 18 18625398 18625398 + Missense_Mutation SNP G G A TCGA-FB-AAPZ-01A-11D-A40W-08 TCGA-FB-AAPZ-11A-11D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2feaf6e8-f76a-4c02-9536-689e3ad149de 3b27aea6-7bdb-48d4-9fef-c5748fef457d g.chr18:18625398G>A ENST00000399799.1 - 5 1385 c.445C>T c.(445-447)Ctc>Ttc p.L149F NM_005406.2 NP_005397.1 Q13464 ROCK1_HUMAN Rho-associated, coiled-coil containing protein kinase 1 149 Protein kinase. actin cytoskeleton organization|axon guidance|cellular component disassembly involved in apoptosis|cytokinesis|leukocyte tethering or rolling|membrane to membrane docking|Rho protein signal transduction centriole|cytosol|Golgi membrane ATP binding|identical protein binding|metal ion binding|protein serine/threonine kinase activity NS(1)|breast(4)|central_nervous_system(1)|large_intestine(8)|lung(2) 16 Melanoma(1;0.165) ACCATGTAGAGATAACGATCA 0.328000 23 208 0 0 1 0 0 HEY2 23493 broad.mit.edu 37 6 126080635 126080635 + Missense_Mutation SNP C C T TCGA-FB-AAPZ-01A-11D-A40W-08 TCGA-FB-AAPZ-11A-11D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2feaf6e8-f76a-4c02-9536-689e3ad149de 3b27aea6-7bdb-48d4-9fef-c5748fef457d g.chr6:126080635C>T ENST00000368364.3 + 5 898 c.701C>T c.(700-702)gCg>gTg p.A234V HEY2_ENST00000368365.1_Missense_Mutation_p.A188V NM_012259.2 NP_036391.1 Q9UBP5 HEY2_HUMAN hes-related family bHLH transcription factor with YRPW motif 2 234 negative regulation of transcription from RNA polymerase II promoter|negative regulation of transcription initiation from RNA polymerase II promoter|negative regulation of transcription regulatory region DNA binding|Notch signaling pathway|smooth muscle cell differentiation|transcription, DNA-dependent transcriptional repressor complex histone deacetylase binding|RNA polymerase II activating transcription factor binding|sequence-specific DNA binding breast(1)|large_intestine(7)|lung(5)|prostate(1) 14 UCEC - Uterine corpus endometrioid carcinoma (4;0.0608)|GBM - Glioblastoma multiforme(226;0.0361)|all cancers(137;0.193) TTTGCCCATGCGGATTCAGCC 0.647000 7 937 0 0 1 0 0 TUBBP5 0 broad.mit.edu 37 9 141070116 141070116 + RNA SNP G G A rs142836124 by1000genomes TCGA-FB-AAPZ-01A-11D-A40W-08 TCGA-FB-AAPZ-11A-11D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2feaf6e8-f76a-4c02-9536-689e3ad149de 3b27aea6-7bdb-48d4-9fef-c5748fef457d g.chr9:141070116G>A ENST00000503395.1 + 0 1196 p.R77H(1) GACTCTGTGCGCTCGGGGCCC 0.687000 7 368 0 0 1 0 0 NRXN3 9369 broad.mit.edu 37 14 79175640 79175640 + Silent SNP C C T TCGA-FB-AAPZ-01A-11D-A40W-08 TCGA-FB-AAPZ-11A-11D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2feaf6e8-f76a-4c02-9536-689e3ad149de 3b27aea6-7bdb-48d4-9fef-c5748fef457d g.chr14:79175640C>T ENST00000554719.1 + 4 674 c.183C>T c.(181-183)ggC>ggT p.G61G RP11-232C2.2_ENST00000555680.1_RNA|NRXN3_ENST00000335750.5_Silent_p.G61G NM_004796.4 NP_004787.2 Q9HDB5 NRX3B_HUMAN neurexin 3 0 angiogenesis|cell adhesion integral to membrane p.G61G(2) NS(1)|breast(4)|central_nervous_system(1)|endometrium(6)|kidney(2)|large_intestine(23)|lung(40)|ovary(3)|pancreas(2)|prostate(5)|skin(7)|upper_aerodigestive_tract(9)|urinary_tract(1) 104 Renal(4;0.00876) BRCA - Breast invasive adenocarcinoma(234;0.00544)|Kidney(3;0.029)|KIRC - Kidney renal clear cell carcinoma(182;0.223) AAATCTATGGCGAAGTTGTGT 0.468000 209 200 0 0 1 0 0 ZDHHC11 79844 broad.mit.edu 37 5 840661 840661 + Missense_Mutation SNP A A G rs146797259 by1000genomes TCGA-FB-AAPZ-01A-11D-A40W-08 TCGA-FB-AAPZ-11A-11D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2feaf6e8-f76a-4c02-9536-689e3ad149de 3b27aea6-7bdb-48d4-9fef-c5748fef457d g.chr5:840661A>G ENST00000283441.8 - 5 1116 c.733T>C c.(733-735)Ttt>Ctt p.F245L ZDHHC11_ENST00000503758.2_5'UTR|ZDHHC11_ENST00000511539.1_Missense_Mutation_p.F32L|ZDHHC11_ENST00000424784.2_Missense_Mutation_p.F245L NM_024786.2 NP_079062.1 Q9H8X9 ZDH11_HUMAN zinc finger, DHHC-type containing 11 245 integral to membrane acyltransferase activity|zinc ion binding p.F245L(2) haematopoietic_and_lymphoid_tissue(1)|liver(1)|lung(10)|pancreas(1)|prostate(5)|skin(2)|urinary_tract(1) 21 Epithelial(17;0.000445)|all cancers(22;0.00176)|OV - Ovarian serous cystadenocarcinoma(19;0.00227)|Lung(60;0.0863) AAGCCAAGAAAGTCCAGCAGG 0.592000 7 1407 0 0 1 0 0 RP11-114H24.7 0 broad.mit.edu 37 15 78211548 78211548 + RNA SNP T T C TCGA-FB-AAPZ-01A-11D-A40W-08 TCGA-FB-AAPZ-11A-11D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2feaf6e8-f76a-4c02-9536-689e3ad149de 3b27aea6-7bdb-48d4-9fef-c5748fef457d g.chr15:78211548T>C ENST00000565869.1 + 0 111 RP11-114H24.2_ENST00000567226.1_RNA CCACCTGGGATTGGAGCTTTC 0.562000 5 439 0 0 1 0 0 ZIC3 7547 broad.mit.edu 37 X 136651124 136651124 + Missense_Mutation SNP G G A TCGA-FB-AAPZ-01A-11D-A40W-08 TCGA-FB-AAPZ-11A-11D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2feaf6e8-f76a-4c02-9536-689e3ad149de 3b27aea6-7bdb-48d4-9fef-c5748fef457d g.chrX:136651124G>A ENST00000287538.5 + 2 1674 c.1124G>A c.(1123-1125)cGt>cAt p.R375H ZIC3_ENST00000478471.1_3'UTR|ZIC3_ENST00000370606.3_Missense_Mutation_p.R375H NM_003413.3 NP_003404.1 O60481 ZIC3_HUMAN Zic family member 3 375 cell differentiation|positive regulation of transcription from RNA polymerase II promoter cytoplasm|nucleus protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding breast(1)|central_nervous_system(1)|cervix(1)|endometrium(6)|large_intestine(3)|liver(1)|lung(18)|ovary(3)|soft_tissue(2)|urinary_tract(1) 37 Acute lymphoblastic leukemia(192;0.000127) AGCAGCGACCGTAAGAAGCAC 0.502000 6 837 0 0 1 0 0 RNF165 494470 broad.mit.edu 37 18 44030346 44030346 + Missense_Mutation SNP G G A TCGA-FB-AAPZ-01A-11D-A40W-08 TCGA-FB-AAPZ-11A-11D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2feaf6e8-f76a-4c02-9536-689e3ad149de 3b27aea6-7bdb-48d4-9fef-c5748fef457d g.chr18:44030346G>A ENST00000269439.7 + 5 754 c.703G>A c.(703-705)Gta>Ata p.V235I RNF165_ENST00000543885.1_Missense_Mutation_p.V43I NM_152470.2 NP_689683.2 Q6ZSG1 RN165_HUMAN ring finger protein 165 235 zinc ion binding NS(1)|large_intestine(4)|lung(6) 11 READ - Rectum adenocarcinoma(1;0.0873) CACCTCCGCCGTACGGGAGAG 0.522000 76 59 0 0 1 0 0 HLA-V 0 broad.mit.edu 37 6 29761676 29761676 + RNA SNP C C G TCGA-FB-AAPZ-01A-11D-A40W-08 TCGA-FB-AAPZ-11A-11D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2feaf6e8-f76a-4c02-9536-689e3ad149de 3b27aea6-7bdb-48d4-9fef-c5748fef457d g.chr6:29761676C>G ENST00000457107.1 + 0 902 gagagggtttcatattcaaga 0.493000 9 100 0 0 1 0 0 TUBB8P7 0 broad.mit.edu 37 16 90162620 90162620 + RNA SNP T T G TCGA-FB-AAPZ-01A-11D-A40W-08 TCGA-FB-AAPZ-11A-11D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2feaf6e8-f76a-4c02-9536-689e3ad149de 3b27aea6-7bdb-48d4-9fef-c5748fef457d g.chr16:90162620T>G ENST00000564451.1 + 0 1973 CTAGGTAAAGTGGGGAAGCAG 0.483000 8 638 0 0 1 0 0 MLLT3 4300 broad.mit.edu 37 9 20414343 20414343 + Silent SNP A A G TCGA-FB-AAPZ-01A-11D-A40W-08 TCGA-FB-AAPZ-11A-11D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2feaf6e8-f76a-4c02-9536-689e3ad149de 3b27aea6-7bdb-48d4-9fef-c5748fef457d g.chr9:20414343A>G ENST00000380338.4 - 5 787 c.501T>C c.(499-501)agT>agC p.S167S MLLT3_ENST00000475957.1_5'UTR|MLLT3_ENST00000355930.6_5'UTR|MLLT3_ENST00000429426.2_Silent_p.S164S NM_004529.2 NP_004520.2 P42568 AF9_HUMAN myeloid/lymphoid or mixed-lineage leukemia (trithorax homolog, Drosophila); translocated to, 3 167 Poly-Ser. regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus protein binding p.S167S(19) central_nervous_system(1)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(6)|lung(24)|ovary(1)|prostate(4)|skin(1)|urinary_tract(7) 66 GBM - Glioblastoma multiforme(3;4.35e-105)|Lung(42;3.48e-06)|LUSC - Lung squamous cell carcinoma(42;7.92e-05) tgctgctgctactgctgctgc 0.532000 T MLL ALL 12 147 0 0 1 0 0 PSG8 0 broad.mit.edu 37 19 43259170 43259170 + Missense_Mutation SNP G G A TCGA-FB-AAPZ-01A-11D-A40W-08 TCGA-FB-AAPZ-11A-11D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2feaf6e8-f76a-4c02-9536-689e3ad149de 3b27aea6-7bdb-48d4-9fef-c5748fef457d g.chr19:43259170G>A ENST00000404209.4 - 4 1054 c.958C>T c.(958-960)Cgc>Tgc p.R320C PSG8_ENST00000401467.2_Missense_Mutation_p.R227C|PSG8_ENST00000306511.4_Missense_Mutation_p.R320C|PSG8_ENST00000600709.1_Intron|PSG8_ENST00000406636.3_Missense_Mutation_p.R198C NM_001130167.1 NP_001123639.1 Q9UQ74 PSG8_HUMAN pregnancy specific beta-1-glycoprotein 8 320 Ig-like C2-type 2. extracellular region p.R320C(2) breast(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(9)|lung(19)|prostate(1)|skin(3)|upper_aerodigestive_tract(1) 40 Prostate(69;0.00899) GGGTAACTGCGGATGCCACCA 0.483000 302 474 0 0 1 0 0 ZNF844 284391 broad.mit.edu 37 19 12187475 12187475 + Missense_Mutation SNP C C G TCGA-FB-AAPZ-01A-11D-A40W-08 TCGA-FB-AAPZ-11A-11D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2feaf6e8-f76a-4c02-9536-689e3ad149de 3b27aea6-7bdb-48d4-9fef-c5748fef457d g.chr19:12187475C>G ENST00000439326.3 + 4 1715 c.1540C>G c.(1540-1542)Cat>Gat p.H514D ZNF844_ENST00000441304.2_3'UTR NM_001136501.1 NP_001129973.1 Q08AG5 ZN844_HUMAN zinc finger protein 844 514 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding p.H514D(1) NS(1)|breast(2)|central_nervous_system(1)|endometrium(2)|kidney(2)|lung(1)|prostate(1) 10 AAAGCCTTCACATCTGCCTCA 0.408000 5 339 0 0 1 0 0 PCDHB13 0 broad.mit.edu 37 5 140595672 140595672 + Silent SNP C C T TCGA-FB-AAPZ-01A-11D-A40W-08 TCGA-FB-AAPZ-11A-11D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2feaf6e8-f76a-4c02-9536-689e3ad149de 3b27aea6-7bdb-48d4-9fef-c5748fef457d g.chr5:140595672C>T ENST00000341948.4 + 1 2164 c.1977C>T c.(1975-1977)caC>caT p.H659H NM_018933.2 NP_061756.1 Q9Y5F0 PCDBD_HUMAN 659 Cadherin 6. calcium-dependent cell-cell adhesion|homophilic cell adhesion|synapse assembly|synaptic transmission integral to membrane|plasma membrane calcium ion binding NS(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(14)|liver(4)|lung(24)|ovary(5)|pancreas(1)|skin(4)|upper_aerodigestive_tract(1) 66 KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339) CCACGCTGCACGTGCTCCTGG 0.716000 14 486 0 0 1 0 0 PDXDC1 23042 broad.mit.edu 37 16 15116567 15116567 + Missense_Mutation SNP C C T rs151168975 by1000genomes TCGA-FB-AAPZ-01A-11D-A40W-08 TCGA-FB-AAPZ-11A-11D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2feaf6e8-f76a-4c02-9536-689e3ad149de 3b27aea6-7bdb-48d4-9fef-c5748fef457d g.chr16:15116567C>T ENST00000396410.4 + 13 1193 c.1096C>T c.(1096-1098)Cgg>Tgg p.R366W PDXDC1_ENST00000325823.7_Missense_Mutation_p.R351W|PDXDC1_ENST00000563679.1_Missense_Mutation_p.R384W|PDXDC1_ENST00000450288.2_Missense_Mutation_p.R338W|PDXDC1_ENST00000447912.2_Missense_Mutation_p.R275W|PDXDC1_ENST00000569715.1_Missense_Mutation_p.R339W|PDXDC1_ENST00000535621.2_Missense_Mutation_p.R366W|PDXDC1_ENST00000455313.2_Missense_Mutation_p.R343W NM_015027.2 NP_055842.2 Q6P996 PDXD1_HUMAN pyridoxal-dependent decarboxylase domain containing 1 366 carboxylic acid metabolic process carboxy-lyase activity|protein binding|pyridoxal phosphate binding p.R366W(1) central_nervous_system(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|kidney(7)|large_intestine(2)|liver(1)|lung(10)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 38 Pyridoxal Phosphate(DB00114) GCAGAGTCAACGGTTGCAGGA 0.368000 5 213 0 0 1 0 0 MLLT3 4300 broad.mit.edu 37 9 20414379 20414379 + Silent SNP G G A TCGA-FB-AAPZ-01A-11D-A40W-08 TCGA-FB-AAPZ-11A-11D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2feaf6e8-f76a-4c02-9536-689e3ad149de 3b27aea6-7bdb-48d4-9fef-c5748fef457d g.chr9:20414379G>A ENST00000380338.4 - 5 751 c.465C>T c.(463-465)agC>agT p.S155S MLLT3_ENST00000475957.1_5'UTR|MLLT3_ENST00000355930.6_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 4 144 0 0 1 0 0 KCTD16 57528 broad.mit.edu 37 5 143853641 143853641 + Silent SNP T T C TCGA-FB-AAPZ-01A-11D-A40W-08 TCGA-FB-AAPZ-11A-11D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2feaf6e8-f76a-4c02-9536-689e3ad149de 3b27aea6-7bdb-48d4-9fef-c5748fef457d g.chr5:143853641T>C ENST00000507359.2 + 3 2342 c.1251T>C c.(1249-1251)ccT>ccC p.P417P KCTD16_ENST00000512467.1_Silent_p.P417P NM_020768.3 NP_065819.1 Q68DU8 KCD16_HUMAN potassium channel tetramerization domain containing 16 417 cell junction|postsynaptic membrane|presynaptic membrane|voltage-gated potassium channel complex voltage-gated potassium channel activity large_intestine(5)|lung(9)|ovary(2)|prostate(1)|skin(3)|urinary_tract(1) 21 all_hematologic(541;0.118) KIRC - Kidney renal clear cell carcinoma(527;0.00111)|Kidney(363;0.00176) GAAAACATCCTTGGCAATCTG 0.378000 169 329 0 0 1 0 0 PROL1 58503 broad.mit.edu 37 4 71275677 71275677 + Missense_Mutation SNP G G A TCGA-FB-AAPZ-01A-11D-A40W-08 TCGA-FB-AAPZ-11A-11D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2feaf6e8-f76a-4c02-9536-689e3ad149de 3b27aea6-7bdb-48d4-9fef-c5748fef457d g.chr4:71275677G>A ENST00000399575.2 + 3 806 c.632G>A c.(631-633)cGt>cAt p.R211H NM_021225.4 NP_067048.4 Q99935 PROL1_HUMAN proline rich, lacrimal 1 211 Thr-rich. regulation of sensory perception of pain extracellular region endopeptidase inhibitor activity endometrium(1)|kidney(1)|large_intestine(2)|lung(7)|prostate(1)|skin(3) 15 all_hematologic(202;0.196) CTCGCCAACCGTCCTCACACA 0.448000 101 289 0 0 1 0 0 SUMF2 25870 broad.mit.edu 37 7 56142409 56142409 + Missense_Mutation SNP C C T TCGA-FB-AAPZ-01A-11D-A40W-08 TCGA-FB-AAPZ-11A-11D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2feaf6e8-f76a-4c02-9536-689e3ad149de 3b27aea6-7bdb-48d4-9fef-c5748fef457d g.chr7:56142409C>T ENST00000434526.2 + 5 603 c.572C>T c.(571-573)gCc>gTc p.A191V SUMF2_ENST00000395435.2_Intron|SUMF2_ENST00000395436.2_Missense_Mutation_p.A176V|SUMF2_ENST00000342190.6_Missense_Mutation_p.A191V|SUMF2_ENST00000413756.1_Missense_Mutation_p.A172V|SUMF2_ENST00000275607.9_Missense_Mutation_p.A84V|SUMF2_ENST00000437307.2_Intron NM_001042469.1|NM_015411.2 NP_001035934.2|NP_056226.2 Q8NBJ7 SUMF2_HUMAN sulfatase modifying factor 2 172 endoplasmic reticulum lumen metal ion binding breast(2)|endometrium(2)|large_intestine(1)|lung(6)|ovary(2)|skin(1) 14 Breast(14;0.214) Lung(13;0.00024)|LUSC - Lung squamous cell carcinoma(13;0.00099) TGGGAGTTTGCCGCCCGAGGG 0.567000 OREG0018081 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 6 682 0 0 1 0 0 LL22NC03-80A10.6 0 broad.mit.edu 37 22 22664606 22664606 + RNA SNP A A G TCGA-FB-AAPZ-01A-11D-A40W-08 TCGA-FB-AAPZ-11A-11D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2feaf6e8-f76a-4c02-9536-689e3ad149de 3b27aea6-7bdb-48d4-9fef-c5748fef457d g.chr22:22664606A>G ENST00000426066.1 + 0 787 NR_027293.1 GTCTTCATGCAAACTTGGTAT 0.398000 4 89 0 0 1 0 0 ANKRD20A8P 0 broad.mit.edu 37 2 95522772 95522772 + RNA SNP T T C TCGA-FB-AAPZ-01A-11D-A40W-08 TCGA-FB-AAPZ-11A-11D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2feaf6e8-f76a-4c02-9536-689e3ad149de 3b27aea6-7bdb-48d4-9fef-c5748fef457d g.chr2:95522772T>C ENST00000432432.2 - 0 255 NR_040113.1 p.E49G(1) GCGCTCCACCTCCGCGGCGTC 0.682000 6 290 0 0 1 0 0 EPHA8 2046 broad.mit.edu 37 1 22924191 22924191 + Silent SNP C C T TCGA-FB-AAPZ-01A-11D-A40W-08 TCGA-FB-AAPZ-11A-11D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2feaf6e8-f76a-4c02-9536-689e3ad149de 3b27aea6-7bdb-48d4-9fef-c5748fef457d g.chr1:22924191C>T ENST00000166244.3 + 11 2025 c.1953C>T c.(1951-1953)taC>taT p.Y651Y NM_020526.3 NP_065387.1 P29322 EPHA8_HUMAN EPH receptor A8 651 Protein kinase. integral to plasma membrane ATP binding|ephrin receptor activity breast(3)|central_nervous_system(5)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|kidney(9)|large_intestine(6)|lung(22)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2) 61 Colorectal(325;3.46e-05)|Lung NSC(340;6.55e-05)|all_lung(284;9.87e-05)|Renal(390;0.000219)|Breast(348;0.00222)|Ovarian(437;0.00308)|Myeloproliferative disorder(586;0.0255) UCEC - Uterine corpus endometrioid carcinoma (279;0.0227)|OV - Ovarian serous cystadenocarcinoma(117;7.29e-27)|Colorectal(126;1.61e-07)|COAD - Colon adenocarcinoma(152;1.14e-05)|GBM - Glioblastoma multiforme(114;1.74e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000554)|KIRC - Kidney renal clear cell carcinoma(1967;0.00272)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.199) AAGTCTGCTACGGGAGGCTGC 0.692000 49 148 0 0 1 0 0 MKI67 4288 broad.mit.edu 37 10 129906577 129906577 + Missense_Mutation SNP G G A rs117795868 by1000genomes TCGA-FB-AAPZ-01A-11D-A40W-08 TCGA-FB-AAPZ-11A-11D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2feaf6e8-f76a-4c02-9536-689e3ad149de 3b27aea6-7bdb-48d4-9fef-c5748fef457d g.chr10:129906577G>A ENST00000368654.3 - 13 3902 c.3527C>T c.(3526-3528)aCg>aTg p.T1176M MKI67_ENST00000368653.3_Missense_Mutation_p.T816M NM_002417.4 NP_002408.3 P46013 KI67_HUMAN marker of proliferation Ki-67 1176 16 X 122 AA approximate repeats. cell proliferation nucleolus ATP binding|protein C-terminus binding NS(2)|autonomic_ganglia(1)|breast(2)|central_nervous_system(2)|cervix(2)|endometrium(14)|haematopoietic_and_lymphoid_tissue(5)|kidney(7)|large_intestine(30)|lung(64)|ovary(4)|pancreas(1)|prostate(4)|skin(2)|soft_tissue(1)|stomach(10)|upper_aerodigestive_tract(4)|urinary_tract(4) 159 all_epithelial(44;2.12e-05)|all_lung(145;0.00679)|Lung NSC(174;0.00998)|all_neural(114;0.0936)|Colorectal(57;0.14)|Breast(234;0.166)|Melanoma(40;0.203) TGGTTTGGGCGTAAGCATGGC 0.463000 7 1183 0 0 1 0 0 RHOA 387 broad.mit.edu 37 3 49412957 49412957 + Silent SNP G G A TCGA-FB-AAPZ-01A-11D-A40W-08 TCGA-FB-AAPZ-11A-11D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2feaf6e8-f76a-4c02-9536-689e3ad149de 3b27aea6-7bdb-48d4-9fef-c5748fef457d g.chr3:49412957G>A ENST00000418115.1 - 2 450 c.66C>T c.(64-66)ctC>ctT p.L22L RHOA_ENST00000454011.2_Silent_p.L22L|RHOA_ENST00000422781.1_Silent_p.L22L NM_001664.2 NP_001655.1 P61586 RHOA_HUMAN ras homolog family member A 22 axon guidance|interspecies interaction between organisms|negative regulation of axonogenesis|nerve growth factor receptor signaling pathway|phosphatidylinositol-mediated signaling|platelet activation|positive regulation of axonogenesis|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of neuron differentiation|positive regulation of NF-kappaB import into nucleus|positive regulation of stress fiber assembly|regulation of cell migration|regulation of small GTPase mediated signal transduction|Rho protein signal transduction|spindle assembly involved in mitosis cytoskeleton|cytosol|plasma membrane GTP binding|GTPase activity|myosin binding cervix(1)|kidney(1)|large_intestine(5)|lung(1)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1) 12 BRCA - Breast invasive adenocarcinoma(193;8.58e-05)|Kidney(197;0.0023)|KIRC - Kidney renal clear cell carcinoma(197;0.00258) Atorvastatin(DB01076)|Simvastatin(DB00641) TGAAGACTATGAGCAAGCATG 0.473000 141 290 0 0 1 0 0 MEF2C 4208 broad.mit.edu 37 5 88027589 88027589 + Missense_Mutation SNP C C T TCGA-FB-AAPZ-01A-11D-A40W-08 TCGA-FB-AAPZ-11A-11D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2feaf6e8-f76a-4c02-9536-689e3ad149de 3b27aea6-7bdb-48d4-9fef-c5748fef457d g.chr5:88027589C>T ENST00000504921.2 - 7 1439 c.767G>A c.(766-768)cGa>cAa p.R256Q MEF2C_ENST00000514015.1_Missense_Mutation_p.R256Q|MEF2C_ENST00000514028.1_Missense_Mutation_p.R256Q|MEF2C_ENST00000508569.1_Missense_Mutation_p.R256Q|MEF2C_ENST00000340208.5_Missense_Mutation_p.R274Q|MEF2C_ENST00000424173.2_Missense_Mutation_p.R254Q|MEF2C_ENST00000506554.1_Missense_Mutation_p.R256Q|MEF2C_ENST00000437473.2_Missense_Mutation_p.R256Q|MEF2C_ENST00000510942.1_Missense_Mutation_p.R256Q|MEF2C_ENST00000539796.1_Missense_Mutation_p.R208Q Q06413 MEF2C_HUMAN myocyte enhancer factor 2C 256 apoptosis|B cell proliferation|innate immune response|learning or memory|muscle cell differentiation|muscle organ development|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|negative regulation of transcription from RNA polymerase II promoter|nerve growth factor receptor signaling pathway|neuron development|positive regulation of muscle cell differentiation|positive regulation of survival gene product expression|positive regulation of transcription from RNA polymerase II promoter|regulation of germinal center formation|regulation of megakaryocyte differentiation|regulation of synaptic activity|stress-activated MAPK cascade|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway nuclear speck activating transcription factor binding|protein heterodimerization activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding p.R256L(2)|p.R254L(1) breast(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(9)|lung(9)|ovary(2)|pancreas(1)|prostate(4)|skin(1)|upper_aerodigestive_tract(4)|urinary_tract(1) 40 all_cancers(142;6.67e-05)|all_epithelial(76;7.77e-07)|Lung NSC(167;0.00566)|all_lung(232;0.00732)|Colorectal(57;0.0959)|Ovarian(174;0.1) OV - Ovarian serous cystadenocarcinoma(54;1.04e-33)|Epithelial(54;1.6e-28)|all cancers(79;2.9e-25) AATAAGAACTCGGAGATCTGG 0.378000 HNSCC(66;0.2) 88 144 0 0 1 0 0 MLLT3 4300 broad.mit.edu 37 9 20414340 20414340 + Silent SNP G G A TCGA-FB-AAPZ-01A-11D-A40W-08 TCGA-FB-AAPZ-11A-11D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2feaf6e8-f76a-4c02-9536-689e3ad149de 3b27aea6-7bdb-48d4-9fef-c5748fef457d g.chr9:20414340G>A ENST00000380338.4 - 5 790 c.504C>T c.(502-504)agC>agT p.S168S MLLT3_ENST00000475957.1_5'UTR|MLLT3_ENST00000355930.6_5'UTR|MLLT3_ENST00000429426.2_Silent_p.S165S NM_004529.2 NP_004520.2 P42568 AF9_HUMAN myeloid/lymphoid or mixed-lineage leukemia (trithorax homolog, Drosophila); translocated to, 3 168 Poly-Ser. regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus protein binding p.S168S(5) central_nervous_system(1)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(6)|lung(24)|ovary(1)|prostate(4)|skin(1)|urinary_tract(7) 66 GBM - Glioblastoma multiforme(3;4.35e-105)|Lung(42;3.48e-06)|LUSC - Lung squamous cell carcinoma(42;7.92e-05) tgctgctgctgctactgctgc 0.537000 T MLL ALL 7 154 0 0 1 0 0 LL22NC03-80A10.6 0 broad.mit.edu 37 22 22664240 22664240 + RNA SNP T T G TCGA-FB-AAPZ-01A-11D-A40W-08 TCGA-FB-AAPZ-11A-11D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2feaf6e8-f76a-4c02-9536-689e3ad149de 3b27aea6-7bdb-48d4-9fef-c5748fef457d g.chr22:22664240T>G ENST00000426066.1 + 0 763 NR_027293.1 GATAAGCTGCTGATGAGCGGT 0.532000 5 286 0 0 1 0 0 NTF3 4908 broad.mit.edu 37 12 5603793 5603793 + Missense_Mutation SNP G G A TCGA-FB-AAPZ-01A-11D-A40W-08 TCGA-FB-AAPZ-11A-11D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2feaf6e8-f76a-4c02-9536-689e3ad149de 3b27aea6-7bdb-48d4-9fef-c5748fef457d g.chr12:5603793G>A ENST00000423158.3 + 2 664 c.452G>A c.(451-453)cGg>cAg p.R151Q NTF3_ENST00000535299.1_Intron|NTF3_ENST00000331010.6_Missense_Mutation_p.R138Q NM_001102654.1 NP_001096124.1 P20783 NTF3_HUMAN neurotrophin 3 138 signal transduction extracellular region growth factor activity|neurotrophin receptor binding p.R138Q(1) endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(10)|ovary(1)|pancreas(3)|upper_aerodigestive_tract(1) 22 CGGCGGAAACGGTACGCGGAG 0.602000 222 285 0 0 1 0 0 NACA 4666 broad.mit.edu 37 12 57111912 57111912 + Silent SNP G G A rs2926744 TCGA-FB-AAPZ-01A-11D-A40W-08 TCGA-FB-AAPZ-11A-11D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2feaf6e8-f76a-4c02-9536-689e3ad149de 3b27aea6-7bdb-48d4-9fef-c5748fef457d g.chr12:57111912G>A ENST00000454682.1 - 3 3683 c.3402C>T c.(3400-3402)ccC>ccT p.P1134P NACA_ENST00000550952.1_Intron|NACA_ENST00000546392.1_Intron|NACA_ENST00000393891.4_Intron|NACA_ENST00000548563.1_Intron|NACA_ENST00000356769.3_Intron|NACA_ENST00000552540.1_Intron|NACA_ENST00000551793.1_Intron NM_001113203.2 NP_001106674.2 Q13765 NACA_HUMAN nascent polypeptide-associated complex alpha subunit 0 interspecies interaction between organisms|protein transport|transcription, DNA-dependent|translation nascent polypeptide-associated complex|nucleus DNA binding breast(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(1)|ovary(2)|upper_aerodigestive_tract(1) 10 CTTTTGGGGAGGGAGGAGTTG 0.642000 T BCL6 NHL 5 165 0 0 1 0 0 PCDHB7 0 broad.mit.edu 37 5 140553994 140553994 + Silent SNP G G T TCGA-FB-AAPZ-01A-11D-A40W-08 TCGA-FB-AAPZ-11A-11D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2feaf6e8-f76a-4c02-9536-689e3ad149de 3b27aea6-7bdb-48d4-9fef-c5748fef457d g.chr5:140553994G>T ENST00000231137.3 + 1 1752 c.1578G>T c.(1576-1578)gcG>gcT p.A526A NM_018940.2 NP_061763.1 Q9Y5E2 PCDB7_HUMAN 526 Cadherin 5. calcium-dependent cell-cell adhesion|homophilic cell adhesion integral to membrane|plasma membrane calcium ion binding p.A526A(1) NS(2)|breast(2)|central_nervous_system(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(20)|lung(54)|ovary(5)|prostate(7)|skin(7)|upper_aerodigestive_tract(4)|urinary_tract(1) 119 KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339) CCCTGCAGGCGTTCGAGTTCC 0.706000 7 532 2.27111e-07 2.41485e-07 1 1 0 COL1A2 1278 broad.mit.edu 37 7 94042405 94042405 + Missense_Mutation SNP G G A TCGA-FB-AAPZ-01A-11D-A40W-08 TCGA-FB-AAPZ-11A-11D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2feaf6e8-f76a-4c02-9536-689e3ad149de 3b27aea6-7bdb-48d4-9fef-c5748fef457d g.chr7:94042405G>A ENST00000297268.6 + 26 1985 c.1514G>A c.(1513-1515)gGc>gAc p.G505D NM_000089.3 NP_000080.2 P08123 CO1A2_HUMAN collagen, type I, alpha 2 505 axon guidance|blood vessel development|collagen fibril organization|leukocyte migration|odontogenesis|platelet activation|regulation of blood pressure|Rho protein signal transduction|skeletal system development|skin morphogenesis|transforming growth factor beta receptor signaling pathway collagen type I|extracellular space|plasma membrane extracellular matrix structural constituent|identical protein binding|platelet-derived growth factor binding|protein binding, bridging COL1A2/PLAG1(3) NS(2)|breast(2)|central_nervous_system(4)|cervix(1)|endometrium(6)|kidney(8)|large_intestine(21)|lung(51)|ovary(2)|prostate(1)|skin(7)|stomach(1)|upper_aerodigestive_tract(8)|urinary_tract(1) 115 all_cancers(62;2.46e-09)|all_epithelial(64;2.7e-08) STAD - Stomach adenocarcinoma(171;0.0031) Collagenase(DB00048) GGTGATCCTGGCAAAAACGGT 0.398000 HNSCC(75;0.22) 5 502 0 0 1 0 0 ABCD2 225 broad.mit.edu 37 12 40012541 40012541 + Missense_Mutation SNP G G A TCGA-FB-AAPZ-01A-11D-A40W-08 TCGA-FB-AAPZ-11A-11D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2feaf6e8-f76a-4c02-9536-689e3ad149de 3b27aea6-7bdb-48d4-9fef-c5748fef457d g.chr12:40012541G>A ENST00000308666.3 - 1 1012 c.877C>T c.(877-879)Cgg>Tgg p.R293W NM_005164.3 NP_005155.1 Q9UBJ2 ABCD2_HUMAN ATP-binding cassette, sub-family D (ALD), member 2 293 ABC transmembrane type-1. fatty acid metabolic process|transport ATP-binding cassette (ABC) transporter complex|integral to plasma membrane|peroxisomal membrane ATP binding|ATPase activity|protein binding breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(10)|lung(24)|ovary(2)|pancreas(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(2) 52 TGCACATACCGCAAATAGCCT 0.413000 6 596 0 0 1 0 0 FRG1B 0 broad.mit.edu 37 20 29625971 29625971 + Missense_Mutation SNP C C A rs145033899 TCGA-FB-AAPZ-01A-11D-A40W-08 TCGA-FB-AAPZ-11A-11D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2feaf6e8-f76a-4c02-9536-689e3ad149de 3b27aea6-7bdb-48d4-9fef-c5748fef457d g.chr20:29625971C>A ENST00000278882.3 + 5 595 c.215C>A c.(214-216)cCa>cAa p.P72Q FRG1B_ENST00000358464.4_Missense_Mutation_p.P72Q|FRG1B_ENST00000439954.2_Missense_Mutation_p.P77Q endometrium(10)|kidney(21)|lung(3)|pancreas(1)|prostate(9)|urinary_tract(9) 53 CAATGGGAACCAGTCTTTCAA 0.328000 10 429 8.10497e-08 8.67284e-08 1 1 0 OTUD4 54726 broad.mit.edu 37 4 146059006 146059006 + Missense_Mutation SNP G G A TCGA-FB-AAPZ-01A-11D-A40W-08 TCGA-FB-AAPZ-11A-11D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2feaf6e8-f76a-4c02-9536-689e3ad149de 3b27aea6-7bdb-48d4-9fef-c5748fef457d g.chr4:146059006G>A ENST00000454497.2 - 21 2863 c.2726C>T c.(2725-2727)aCt>aTt p.T909I OTUD4_ENST00000455611.2_Intron|OTUD4_ENST00000447906.2_Missense_Mutation_p.T974I NM_001102653.1 NP_001096123.1 Q01804 OTUD4_HUMAN OTU domain containing 4 973 protein binding breast(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(9)|lung(10)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(2) 33 all_hematologic(180;0.151) AACAGGCACAGTTTCTCTCTC 0.463000 10 646 0 0 1 0 0 TAS1R2 80834 broad.mit.edu 37 1 19183978 19183978 + Silent SNP C C T TCGA-FB-AAPZ-01A-11D-A40W-08 TCGA-FB-AAPZ-11A-11D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2feaf6e8-f76a-4c02-9536-689e3ad149de 3b27aea6-7bdb-48d4-9fef-c5748fef457d g.chr1:19183978C>T ENST00000375371.3 - 2 351 c.330G>A c.(328-330)ccG>ccA p.P110P RP13-279N23.2_ENST00000494072.3_3'UTR NM_152232.2 NP_689418.2 Q8TE23 TS1R2_HUMAN taste receptor, type 1, member 2 110 detection of chemical stimulus involved in sensory perception of sweet taste plasma membrane protein heterodimerization activity|taste receptor activity NS(1)|breast(1)|central_nervous_system(1)|endometrium(5)|kidney(4)|large_intestine(10)|lung(14)|ovary(1)|pancreas(3)|prostate(1)|skin(3)|stomach(1) 45 Colorectal(325;3.46e-05)|all_lung(284;0.000321)|Lung NSC(340;0.000398)|Renal(390;0.000518)|Breast(348;0.000812)|Ovarian(437;0.00764)|Myeloproliferative disorder(586;0.0255) UCEC - Uterine corpus endometrioid carcinoma (279;0.00466)|BRCA - Breast invasive adenocarcinoma(304;3.56e-05)|Kidney(64;0.000177)|KIRC - Kidney renal clear cell carcinoma(64;0.00262)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649) Aspartame(DB00168) AGTAGAGCACCGGCTGGACAT 0.542000 27 376 0 0 1 0 0 COPA 1314 broad.mit.edu 37 1 160261696 160261696 + Silent SNP G G A TCGA-FB-AAPZ-01A-11D-A40W-08 TCGA-FB-AAPZ-11A-11D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2feaf6e8-f76a-4c02-9536-689e3ad149de 3b27aea6-7bdb-48d4-9fef-c5748fef457d g.chr1:160261696G>A ENST00000241704.7 - 30 3400 c.3171C>T c.(3169-3171)tgC>tgT p.C1057C COPA_ENST00000368069.3_Silent_p.C1066C NM_001098398.1|NM_004371.3 NP_001091868.1|NP_004362.2 P53621 COPA_HUMAN coatomer protein complex, subunit alpha 1057 COPI coating of Golgi vesicle|intracellular protein transport|pancreatic juice secretion|retrograde vesicle-mediated transport, Golgi to ER COPI vesicle coat|cytosol|extracellular space|microsome|soluble fraction hormone activity|structural molecule activity central_nervous_system(1)|endometrium(5)|kidney(5)|large_intestine(2)|lung(25)|ovary(1)|prostate(3)|skin(1)|stomach(1)|urinary_tract(2) 46 all_cancers(52;8.15e-18)|all_hematologic(112;0.093) BRCA - Breast invasive adenocarcinoma(70;0.111) TGTACTCACGGCAAATGGTGA 0.522000 OREG0013929 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 6 880 0 0 1 0 0 FEM1B 10116 broad.mit.edu 37 15 68570843 68570843 + Missense_Mutation SNP A A G TCGA-FB-AAPZ-01A-11D-A40W-08 TCGA-FB-AAPZ-11A-11D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2feaf6e8-f76a-4c02-9536-689e3ad149de 3b27aea6-7bdb-48d4-9fef-c5748fef457d g.chr15:68570843A>G ENST00000306917.4 + 1 703 c.88A>G c.(88-90)Agc>Ggc p.S30G NM_015322.3 NP_056137.1 Q9UK73 FEM1B_HUMAN fem-1 homolog b (C. elegans) 30 apoptosis|induction of apoptosis|regulation of DNA damage checkpoint|regulation of ubiquitin-protein ligase activity cytoplasm|nucleus death receptor binding|ubiquitin-protein ligase activity endometrium(1)|kidney(1)|large_intestine(1)|lung(4)|ovary(1)|urinary_tract(1) 9 CCGGTCTGAAAGCGACATCCG 0.632000 124 61 0 0 1 0 0 WASH3P 0 broad.mit.edu 37 15 102515299 102515299 + RNA SNP G G A TCGA-FB-AAPZ-01A-11D-A40W-08 TCGA-FB-AAPZ-11A-11D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2feaf6e8-f76a-4c02-9536-689e3ad149de 3b27aea6-7bdb-48d4-9fef-c5748fef457d g.chr15:102515299G>A ENST00000557932.1 + 0 1145 p.G374S(10) central_nervous_system(1)|endometrium(6)|kidney(11)|prostate(5)|stomach(1)|urinary_tract(1) 25 TGGGGGCATCGGCAAGGCCAA 0.652000 7 35 0 0 1 0 0 LBR 3930 broad.mit.edu 37 1 225611758 225611758 + Missense_Mutation SNP G G A TCGA-FB-AAPZ-01A-11D-A40W-08 TCGA-FB-AAPZ-11A-11D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2feaf6e8-f76a-4c02-9536-689e3ad149de 3b27aea6-7bdb-48d4-9fef-c5748fef457d g.chr1:225611758G>A ENST00000338179.2 - 2 145 c.20C>T c.(19-21)gCc>gTc p.A7V LBR_ENST00000272163.4_Missense_Mutation_p.A7V NM_194442.2 NP_919424.1 Q14739 LBR_HUMAN lamin B receptor 7 Nucleoplasmic (Potential). cholesterol biosynthetic process integral to nuclear inner membrane chromo shadow domain binding|delta14-sterol reductase activity|DNA binding|lamin binding|receptor activity breast(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(5)|ovary(2)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1) 22 Breast(184;0.165) GBM - Glioblastoma multiforme(131;0.117) TTCACCATCGGCAAATTTCCT 0.373000 9 1592 0 0 1 0 0 ADAMTS18 170692 broad.mit.edu 37 16 77327045 77327045 + Silent SNP C C T TCGA-FB-AAPZ-01A-11D-A40W-08 TCGA-FB-AAPZ-11A-11D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2feaf6e8-f76a-4c02-9536-689e3ad149de 3b27aea6-7bdb-48d4-9fef-c5748fef457d g.chr16:77327045C>T ENST00000282849.5 - 20 3535 c.3117G>A c.(3115-3117)ctG>ctA p.L1039L NM_199355.2 NP_955387.1 Q8TE60 ATS18_HUMAN ADAM metallopeptidase with thrombospondin type 1 motif, 18 1039 TSP type-1 3. proteolysis proteinaceous extracellular matrix metalloendopeptidase activity|zinc ion binding NS(1)|breast(5)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|kidney(9)|large_intestine(26)|lung(44)|ovary(2)|pancreas(1)|prostate(1)|skin(19)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 118 AGCCCTCCTGCAGCTCAGGTC 0.607000 154 287 0 0 1 0 0 CYBB 1536 broad.mit.edu 37 X 37653065 37653065 + Splice_Site SNP T T C TCGA-FB-AAPZ-01A-11D-A40W-08 TCGA-FB-AAPZ-11A-11D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2feaf6e8-f76a-4c02-9536-689e3ad149de 3b27aea6-7bdb-48d4-9fef-c5748fef457d g.chrX:37653065T>C ENST00000378588.4 + 5 550 c.e5+2 CYBB_ENST00000545017.1_Splice_Site|CYBB_ENST00000536160.1_Intron|TM4SF2_ENST00000465127.1_Intron NM_000397.3 NP_000388.2 P04839 CY24B_HUMAN cytochrome b-245, beta polypeptide electron transport chain|inflammatory response|innate immune response|respiratory burst|superoxide anion generation NADPH oxidase complex electron carrier activity|flavin adenine dinucleotide binding|heme binding|protein heterodimerization activity|superoxide-generating NADPH oxidase activity|voltage-gated ion channel activity central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(20)|prostate(2)|skin(2) 32 AGAATAAAGGTAAGCCTCTCA 0.373000 26 168 0 0 1 0 0 ATP10A 57194 broad.mit.edu 37 15 25924552 25924552 + Missense_Mutation SNP C C T TCGA-FB-AAPZ-01A-11D-A40W-08 TCGA-FB-AAPZ-11A-11D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2feaf6e8-f76a-4c02-9536-689e3ad149de 3b27aea6-7bdb-48d4-9fef-c5748fef457d g.chr15:25924552C>T ENST00000356865.6 - 21 4547 c.4436G>A c.(4435-4437)cGa>cAa p.R1479Q NM_024490.3 NP_077816.1 O60312 AT10A_HUMAN ATPase, class V, type 10A 1479 ATP biosynthetic process|regulation of cell shape integral to membrane|plasma membrane ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|magnesium ion binding|phospholipid-translocating ATPase activity NS(1)|breast(2)|endometrium(8)|kidney(2)|large_intestine(33)|liver(1)|lung(41)|ovary(3)|pancreas(2)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(2) 103 all_cancers(20;5.16e-25)|all_lung(180;1.51e-14)|Acute lymphoblastic leukemia(1;2.53e-05)|all_hematologic(1;0.000267)|Breast(32;0.00125) all cancers(64;9.48e-07)|Epithelial(43;1.69e-06)|BRCA - Breast invasive adenocarcinoma(123;0.0252)|Lung(196;0.244) AAGTCCTGATCGGCCTGAGTG 0.512000 19 269 0 0 1 0 0 CLEC1B 51266 broad.mit.edu 37 12 10147796 10147796 + Missense_Mutation SNP C C A TCGA-FB-AAPZ-01A-11D-A40W-08 TCGA-FB-AAPZ-11A-11D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2feaf6e8-f76a-4c02-9536-689e3ad149de 3b27aea6-7bdb-48d4-9fef-c5748fef457d g.chr12:10147796C>A ENST00000428126.2 - 6 658 c.389G>T c.(388-390)cGc>cTc p.R130L CLEC1B_ENST00000348658.4_Missense_Mutation_p.R130L|CLEC1B_ENST00000298527.6_Missense_Mutation_p.R163L Q9P126 CLC1B_HUMAN C-type lectin domain family 1, member B 163 C-type lectin. cell surface receptor linked signaling pathway|defense response integral to plasma membrane protein binding|sugar binding|transmembrane receptor activity NS(1)|breast(1)|central_nervous_system(1)|large_intestine(2)|lung(12)|stomach(1)|urinary_tract(1) 19 CGACTTCTGGCGAGATAATCC 0.433000 92 1986 1.47197e-15 1.61628e-15 1 1 0 SKA3 221150 broad.mit.edu 37 13 21742393 21742393 + Silent SNP T T A TCGA-FB-AAPZ-01A-11D-A40W-08 TCGA-FB-AAPZ-11A-11D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2feaf6e8-f76a-4c02-9536-689e3ad149de 3b27aea6-7bdb-48d4-9fef-c5748fef457d g.chr13:21742393T>A ENST00000314759.5 - 4 601 c.477A>T c.(475-477)tcA>tcT p.S159S SKA3_ENST00000400018.3_Silent_p.S159S NM_145061.5 NP_659498.4 Q8IX90 SKA3_HUMAN spindle and kinetochore associated complex subunit 3 159 cell division|chromosome segregation|mitosis|regulation of microtubule polymerization or depolymerization condensed chromosome outer kinetochore|cytoplasm|spindle microtubule protein binding breast(1)|endometrium(3)|kidney(2)|large_intestine(2)|lung(6)|ovary(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1) 19 GTCCAAAATCTGAAAGTTGTG 0.438000 5 575 0 0 1 0 0 SYNE2 23224 broad.mit.edu 37 14 64681074 64681074 + Missense_Mutation SNP G G A TCGA-FB-AAPZ-01A-11D-A40W-08 TCGA-FB-AAPZ-11A-11D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2feaf6e8-f76a-4c02-9536-689e3ad149de 3b27aea6-7bdb-48d4-9fef-c5748fef457d g.chr14:64681074G>A ENST00000357395.3 + 107 19518 c.8374G>A c.(8374-8376)Gag>Aag p.E2792K SYNE2_ENST00000344113.4_Missense_Mutation_p.E6407K|SYNE2_ENST00000458046.2_Missense_Mutation_p.E41K|SYNE2_ENST00000555022.1_Missense_Mutation_p.E285K|SYNE2_ENST00000554805.1_Missense_Mutation_p.E190K|SYNE2_ENST00000554584.1_Missense_Mutation_p.E6349K|SYNE2_ENST00000555002.1_Missense_Mutation_p.E3041K|ESR2_ENST00000542956.1_Intron|SYNE2_ENST00000394768.2_Missense_Mutation_p.E2792K|SYNE2_ENST00000358025.3_Missense_Mutation_p.E6407K Q8WXH0 SYNE2_HUMAN spectrin repeat containing, nuclear envelope 2 6407 centrosome localization|cytoskeletal anchoring at nuclear membrane|nuclear migration along microfilament|positive regulation of cell migration cytoskeleton|filopodium membrane|focal adhesion|integral to membrane|lamellipodium membrane|mitochondrial part|nuclear outer membrane|nucleoplasm|sarcoplasmic reticulum membrane|SUN-KASH complex|Z disc actin binding|protein binding NS(5)|breast(17)|central_nervous_system(3)|cervix(8)|endometrium(17)|haematopoietic_and_lymphoid_tissue(2)|kidney(21)|large_intestine(34)|lung(75)|ovary(10)|pancreas(2)|prostate(8)|skin(8)|stomach(1)|upper_aerodigestive_tract(9)|urinary_tract(4) 224 all cancers(60;0.00153)|OV - Ovarian serous cystadenocarcinoma(108;0.00444)|BRCA - Breast invasive adenocarcinoma(234;0.0681) GTCTGGCTGCGAGACCCCTGT 0.632000 214 227 0 0 1 0 0 PKD1L1 168507 broad.mit.edu 37 7 47933504 47933504 + Silent SNP G G A TCGA-FB-AAPZ-01A-11D-A40W-08 TCGA-FB-AAPZ-11A-11D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2feaf6e8-f76a-4c02-9536-689e3ad149de 3b27aea6-7bdb-48d4-9fef-c5748fef457d g.chr7:47933504G>A ENST00000289672.2 - 15 2474 c.2424C>T c.(2422-2424)ttC>ttT p.F808F NM_138295.3 NP_612152.1 Q8TDX9 PK1L1_HUMAN polycystic kidney disease 1 like 1 808 REJ. cell-cell adhesion integral to membrane BBS9/PKD1L1(2) NS(1)|breast(9)|central_nervous_system(1)|cervix(2)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(27)|lung(44)|ovary(12)|prostate(5)|skin(8)|stomach(4)|upper_aerodigestive_tract(5) 142 CGTCAGGGTCGAAGGACTGGG 0.617000 56 88 0 0 1 0 0 MUC5B 727897 broad.mit.edu 37 11 1268736 1268736 + Silent SNP A A G rs71469870 TCGA-FB-AAPZ-01A-11D-A40W-08 TCGA-FB-AAPZ-11A-11D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2feaf6e8-f76a-4c02-9536-689e3ad149de 3b27aea6-7bdb-48d4-9fef-c5748fef457d g.chr11:1268736A>G ENST00000447027.1 + 31 10693 c.10635A>G c.(10633-10635)acA>acG p.T3545T RP11-532E4.2_ENST00000532061.2_RNA|MUC5B_ENST00000529681.1_Silent_p.T3542T Q9HC84 MUC5B_HUMAN mucin 5B, oligomeric mucus/gel-forming 3542 7 X Cys-rich subdomain repeats.|Thr-rich. Missing (in Ref. 6; AAB61398). cell adhesion extracellular region extracellular matrix structural constituent|protein binding cervix(2)|endometrium(36)|kidney(9)|lung(89)|urinary_tract(1) 137 all_cancers(49;6.97e-08)|all_epithelial(84;3.45e-05)|Breast(177;0.000307)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.229) BRCA - Breast invasive adenocarcinoma(625;0.00141)|Lung(200;0.0853)|LUSC - Lung squamous cell carcinoma(625;0.1) CCACAGCCACAGCCACACCCA 0.687000 5 524 0 0 1 0 0 ZNF845 91664 broad.mit.edu 37 19 53856730 53856730 + Silent SNP G G A TCGA-FB-AAPZ-01A-11D-A40W-08 TCGA-FB-AAPZ-11A-11D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2feaf6e8-f76a-4c02-9536-689e3ad149de 3b27aea6-7bdb-48d4-9fef-c5748fef457d g.chr19:53856730G>A ENST00000458035.1 + 4 2919 c.2802G>A c.(2800-2802)aaG>aaA p.K934K ZNF845_ENST00000595091.1_Silent_p.K934K NM_138374.1 NP_612383.1 Q96IR2 ZN845_HUMAN zinc finger protein 845 934 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding p.K934K(3) endometrium(2)|kidney(10)|lung(7)|pancreas(1)|prostate(1)|skin(2)|stomach(1)|urinary_tract(2) 26 TAATTCATAAGACAATTCATA 0.368000 8 216 0 0 1 0 0 NBPF10 100132406 broad.mit.edu 37 1 145324376 145324376 + Missense_Mutation SNP G G T TCGA-FB-AAPZ-01A-11D-A40W-08 TCGA-FB-AAPZ-11A-11D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2feaf6e8-f76a-4c02-9536-689e3ad149de 3b27aea6-7bdb-48d4-9fef-c5748fef457d g.chr1:145324376G>T ENST00000342960.5 + 28 3606 c.3571G>T c.(3571-3573)Gcg>Tcg p.A1191S NBPF10_ENST00000369338.1_Intron|NBPF10_ENST00000369339.2_Intron NM_001039703.4 NP_001034792.4 A6NDV3 A6NDV3_HUMAN neuroblastoma breakpoint family, member 10 1191 NS(3)|breast(1)|central_nervous_system(3)|endometrium(12)|kidney(23)|lung(15)|ovary(1)|prostate(7)|skin(6)|urinary_tract(2) 73 all_hematologic(923;0.032) Colorectal(1306;1.36e-07)|KIRC - Kidney renal clear cell carcinoma(1967;0.00258) GGAGGTAGTAGCGCCTGAAGT 0.483000 7 59 0.000157383 0.000160245 1 1 0 TRAT1 50852 broad.mit.edu 37 3 108572493 108572493 + Nonsense_Mutation SNP C C A TCGA-FB-AAPZ-01A-11D-A40W-08 TCGA-FB-AAPZ-11A-11D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2feaf6e8-f76a-4c02-9536-689e3ad149de 3b27aea6-7bdb-48d4-9fef-c5748fef457d g.chr3:108572493C>A ENST00000295756.6 + 6 560 c.330C>A c.(328-330)taC>taA p.Y110* TRAT1_ENST00000426646.1_Nonsense_Mutation_p.Y73* NM_016388.2 NP_057472.2 Q6PIZ9 TRAT1_HUMAN T cell receptor associated transmembrane adaptor 1 110 cellular defense response|negative regulation of receptor recycling|negative regulation of transport|positive regulation of calcium-mediated signaling|positive regulation of T cell receptor signaling pathway|T cell receptor signaling pathway integral to plasma membrane|T cell receptor complex phosphatidylinositol-4,5-bisphosphate 3-kinase activity|transmembrane receptor protein tyrosine kinase adaptor activity endometrium(2)|kidney(2)|large_intestine(2)|lung(18)|prostate(1)|skin(3) 28 AGATGTGCTACGCCTCACTTG 0.413000 58 413 3.74213e-36 4.19118e-36 1 1 0 SEPT7 989 broad.mit.edu 37 7 35923505 35923505 + Missense_Mutation SNP G G A TCGA-FB-AAPZ-01A-11D-A40W-08 TCGA-FB-AAPZ-11A-11D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2feaf6e8-f76a-4c02-9536-689e3ad149de 3b27aea6-7bdb-48d4-9fef-c5748fef457d g.chr7:35923505G>A ENST00000494488.2 + 8 686 c.686G>A c.(685-687)cGt>cAt p.R229H SEPT7_ENST00000399035.3_Missense_Mutation_p.R242H|SEPT7_ENST00000469679.2_Intron|SEPT7_ENST00000350320.6_Missense_Mutation_p.R242H|SEPT7_ENST00000435235.1_Missense_Mutation_p.R190H|SEPT7_ENST00000399034.2_Missense_Mutation_p.R244H|SEPT7_ENST00000432293.2_Intron Q16181 SEPT7_HUMAN septin 7 243 cilium morphogenesis|cytokinesis|mitosis|protein heterooligomerization|regulation of embryonic cell shape cilium axoneme|cleavage furrow|condensed chromosome kinetochore|midbody|nucleus|septin complex|spindle|stress fiber GTP binding|protein binding|structural molecule activity central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(2)|lung(7)|prostate(1) 14 TTATAGGACCGTTTACCTCTT 0.358000 13 280 0 0 1 0 0 HTRA1 5654 broad.mit.edu 37 10 124266340 124266340 + Missense_Mutation SNP G G A TCGA-FB-AAPZ-01A-11D-A40W-08 TCGA-FB-AAPZ-11A-11D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2feaf6e8-f76a-4c02-9536-689e3ad149de 3b27aea6-7bdb-48d4-9fef-c5748fef457d g.chr10:124266340G>A ENST00000368984.3 + 4 1039 c.911G>A c.(910-912)gGc>gAc p.G304D NM_002775.4 NP_002766.1 Q92743 HTRA1_HUMAN HtrA serine peptidase 1 304 Serine protease. proteolysis|regulation of cell growth extracellular space insulin-like growth factor binding|serine-type endopeptidase activity endometrium(1)|kidney(1)|large_intestine(8)|lung(7) 17 all_neural(114;0.0765)|Lung NSC(174;0.133)|all_lung(145;0.163)|Breast(234;0.238) CAGCGAGGCGGCAAAGAGCTG 0.617000 6 286 0 0 1 0 0 DSCAM 1826 broad.mit.edu 37 21 42080519 42080519 + Silent SNP G G A TCGA-FB-AAPZ-01A-11D-A40W-08 TCGA-FB-AAPZ-11A-11D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2feaf6e8-f76a-4c02-9536-689e3ad149de 3b27aea6-7bdb-48d4-9fef-c5748fef457d g.chr21:42080519G>A ENST00000400454.1 - 2 699 c.222C>T c.(220-222)caC>caT p.H74H NM_001389.3 NP_001380.2 O60469 DSCAM_HUMAN Down syndrome cell adhesion molecule 74 Ig-like C2-type 1. cell adhesion|dendrite self-avoidance|negative regulation of cell adhesion|positive regulation of axon extension involved in axon guidance|positive regulation of phosphorylation axon|extracellular region|growth cone|integral to plasma membrane|membrane fraction protein binding NS(2)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(22)|haematopoietic_and_lymphoid_tissue(4)|kidney(6)|large_intestine(22)|lung(47)|ovary(7)|pancreas(2)|prostate(3)|skin(14)|upper_aerodigestive_tract(6)|urinary_tract(4) 142 all_cancers(19;0.186)|Prostate(19;1.15e-05)|all_epithelial(19;0.0103) TGGGGTGGACGTGGCGGATCC 0.542000 51 363 0 0 1 0 0 AJAP1 55966 broad.mit.edu 37 1 4772583 4772585 + In_Frame_Del DEL CCA CCA - rs141981296 byFrequency TCGA-FB-AAPZ-01A-11D-A40W-08 TCGA-FB-AAPZ-11A-11D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2feaf6e8-f76a-4c02-9536-689e3ad149de 3b27aea6-7bdb-48d4-9fef-c5748fef457d g.chr1:4772583_4772585delCCA ENST00000378191.4 + 2 1034_1036 c.653_655delCCA c.(652-657)gcc>g p.AT218del AJAP1_ENST00000378190.3_In_Frame_Del_p.AT218del NM_018836.3 NP_061324.1 Q9UKB5 AJAP1_HUMAN adherens junctions associated protein 1 218 Thr-rich. cell adhesion adherens junction|apical plasma membrane|basolateral plasma membrane|integral to membrane p.T225_A226insT(1) endometrium(4)|large_intestine(6)|lung(11)|ovary(1)|prostate(1)|urinary_tract(1) 24 all_cancers(77;0.071)|Ovarian(185;0.0721) all_cancers(23;1.77e-36)|all_epithelial(116;1.26e-21)|all_lung(118;3.51e-08)|Lung NSC(185;3.47e-06)|all_neural(13;8.84e-06)|all_hematologic(16;7.61e-05)|Breast(487;0.000507)|Renal(390;0.0007)|Colorectal(325;0.00117)|Hepatocellular(190;0.0071)|Glioma(11;0.0155)|Myeloproliferative disorder(586;0.0258)|Ovarian(437;0.0409)|Lung SC(97;0.133)|Medulloblastoma(700;0.215) Epithelial(90;3.89e-35)|OV - Ovarian serous cystadenocarcinoma(86;1.97e-19)|GBM - Glioblastoma multiforme(42;3.71e-19)|Colorectal(212;4.57e-06)|COAD - Colon adenocarcinoma(227;0.00019)|Kidney(185;0.000969)|BRCA - Breast invasive adenocarcinoma(365;0.00122)|STAD - Stomach adenocarcinoma(132;0.00578)|KIRC - Kidney renal clear cell carcinoma(229;0.0126)|READ - Rectum adenocarcinoma(331;0.0689) ACTGTGGccgccaccaccaccac 0.635 9 100 --- --- --- --- VAMP3 9341 broad.mit.edu 37 1 7838212 7838214 + In_Frame_Del DEL TCA TCA - TCGA-FB-AAPZ-01A-11D-A40W-08 TCGA-FB-AAPZ-11A-11D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2feaf6e8-f76a-4c02-9536-689e3ad149de 3b27aea6-7bdb-48d4-9fef-c5748fef457d g.chr1:7838212_7838214delTCA ENST00000054666.6 + 4 381_383 c.266_268delTCA c.(265-270)ttc>t p.FI89del VAMP3_ENST00000470357.1_In_Frame_Del_p.FI61del NM_004781.3 NP_004772.1 Q15836 VAMP3_HUMAN vesicle-associated membrane protein 3 89 cellular membrane fusion|positive regulation of receptor recycling|protein complex assembly|protein transport|retrograde transport, endosome to Golgi|substrate adhesion-dependent cell spreading|vesicle docking involved in exocytosis cell junction|clathrin-coated vesicle|integral to membrane|recycling endosome|synapse|synaptosome protein binding breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3) 6 Ovarian(185;0.0634)|all_lung(157;0.178) all_epithelial(116;9.35e-21)|all_lung(118;7.57e-07)|Lung NSC(185;4.52e-06)|Renal(390;0.000147)|Breast(487;0.00086)|Colorectal(325;0.000959)|Hepatocellular(190;0.00825)|Ovarian(437;0.0253)|Myeloproliferative disorder(586;0.0255) UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|all cancers(8;6.33e-69)|GBM - Glioblastoma multiforme(8;2.07e-34)|Colorectal(212;1.36e-07)|COAD - Colon adenocarcinoma(227;1.38e-05)|Kidney(185;4.89e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000805)|KIRC - Kidney renal clear cell carcinoma(229;0.000917)|STAD - Stomach adenocarcinoma(132;0.000985)|READ - Rectum adenocarcinoma(331;0.0642) CTGGTTATCTTCATCATCATCAT 0.365 7 825 --- --- --- --- AADACL3 126767 broad.mit.edu 37 1 12785492 12785493 + Frame_Shift_Ins INS - - T TCGA-FB-AAPZ-01A-11D-A40W-08 TCGA-FB-AAPZ-11A-11D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2feaf6e8-f76a-4c02-9536-689e3ad149de 3b27aea6-7bdb-48d4-9fef-c5748fef457d g.chr1:12785492_12785493insT ENST00000332530.3 + 3 598_599 c.372_373insT c.(370-375)tagtttfs p.*F124fs AADACL3_ENST00000359318.5_Frame_Shift_Ins_p.*F194fs NM_001103169.1 NP_001096639.1 Q5VUY0 ADCL3_HUMAN arylacetamide deacetylase-like 3 194 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) TCATCTGCTACTGTTTTTTTCA 0.455 9 896 --- --- --- --- ARID1A 8289 broad.mit.edu 37 1 27100182 27100184 + In_Frame_Del DEL GCA GCA - TCGA-FB-AAPZ-01A-11D-A40W-08 TCGA-FB-AAPZ-11A-11D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2feaf6e8-f76a-4c02-9536-689e3ad149de 3b27aea6-7bdb-48d4-9fef-c5748fef457d g.chr1:27100182_27100184delGCA ENST00000324856.7 + 16 4349_4351 c.3978_3980delGCA c.(3976-3981)ccg>cc p.PQ1326del ARID1A_ENST00000540690.1_5'UTR|ARID1A_ENST00000457599.2_In_Frame_Del_p.PQ1326del|ARID1A_ENST00000374152.2_In_Frame_Del_p.PQ943del NM_006015.4 NP_006006.3 O14497 ARI1A_HUMAN AT rich interactive domain 1A (SWI-like) 1326 androgen receptor signaling pathway|chromatin-mediated maintenance of transcription|estrogen receptor signaling pathway|glucocorticoid receptor signaling pathway|nervous system development|nucleosome mobilization|transcription, DNA-dependent nBAF complex|npBAF complex|SWI/SNF complex DNA binding|protein binding p.Q1327*(1)|p.Q1334delQ(1) ARID1A/MAST2_ENST00000361297(2) NS(1)|autonomic_ganglia(1)|biliary_tract(1)|breast(13)|central_nervous_system(6)|cervix(2)|endometrium(56)|haematopoietic_and_lymphoid_tissue(8)|kidney(10)|large_intestine(41)|liver(31)|lung(34)|ovary(130)|pancreas(18)|prostate(8)|skin(9)|stomach(14)|upper_aerodigestive_tract(4)|urinary_tract(24) 411 all_cancers(24;6.36e-27)|all_epithelial(13;5.93e-24)|Colorectal(325;3.46e-05)|all_lung(284;4.76e-05)|Lung NSC(340;5.83e-05)|Breast(348;9.7e-05)|Renal(390;0.0007)|Ovarian(437;0.00473)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0381) UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|all cancers(4;2.61e-56)|Epithelial(14;7.53e-55)|OV - Ovarian serous cystadenocarcinoma(117;4.5e-30)|Colorectal(126;2.07e-09)|COAD - Colon adenocarcinoma(152;4.29e-07)|BRCA - Breast invasive adenocarcinoma(304;4.13e-05)|STAD - Stomach adenocarcinoma(196;0.000279)|KIRC - Kidney renal clear cell carcinoma(1967;0.000794)|GBM - Glioblastoma multiforme(114;0.0132)|READ - Rectum adenocarcinoma(331;0.0469)|Lung(427;0.167)|LUSC - Lung squamous cell carcinoma(448;0.242) GCTACCCCCCgcagcagcagcag 0.591 """Mis, N, F, S, D""" """clear cell ovarian carcinoma, RCC""" 20 456 --- --- --- --- DLGAP3 58512 broad.mit.edu 37 1 35365852 35365852 + Frame_Shift_Del DEL C C - TCGA-FB-AAPZ-01A-11D-A40W-08 TCGA-FB-AAPZ-11A-11D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2feaf6e8-f76a-4c02-9536-689e3ad149de 3b27aea6-7bdb-48d4-9fef-c5748fef457d g.chr1:35365852delC ENST00000373347.1 - 4 1398 c.1130delG c.(1129-1131)gtfs p.G377fs DLGAP3_ENST00000235180.4_Frame_Shift_Del_p.G377fs O95886 DLGP3_HUMAN discs, large (Drosophila) homolog-associated protein 3 377 cell-cell signaling cell junction|postsynaptic density|postsynaptic membrane central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(6)|lung(23)|ovary(4)|prostate(3)|skin(3)|urinary_tract(1) 46 Myeloproliferative disorder(586;0.0393) GGTGGGGTAACCCCCCCAGTC 0.602 7 756 --- --- --- --- PTPRF 5792 broad.mit.edu 37 1 44071946 44071948 + In_Frame_Del DEL GCG GCG - TCGA-FB-AAPZ-01A-11D-A40W-08 TCGA-FB-AAPZ-11A-11D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2feaf6e8-f76a-4c02-9536-689e3ad149de 3b27aea6-7bdb-48d4-9fef-c5748fef457d g.chr1:44071946_44071948delGCG ENST00000359947.4 + 20 3859_3861 c.3519_3521delGCG c.(3517-3522)cag>ca p.QR1173del PTPRF_ENST00000496447.1_3'UTR|PTPRF_ENST00000438120.1_In_Frame_Del_p.QR1164del|PTPRF_ENST00000372413.3_In_Frame_Del_p.QR1164del|PTPRF_ENST00000372414.3_In_Frame_Del_p.QR1173del|PTPRF_ENST00000422171.2_In_Frame_Del_p.QR521del NM_002840.3 NP_002831.2 P10586 PTPRF_HUMAN protein tyrosine phosphatase, receptor type, F 1173 transmembrane receptor protein tyrosine phosphatase signaling pathway integral to plasma membrane transmembrane receptor protein tyrosine phosphatase activity NS(2)|breast(4)|central_nervous_system(3)|endometrium(9)|kidney(4)|large_intestine(11)|liver(1)|lung(24)|ovary(4)|prostate(2)|skin(5)|upper_aerodigestive_tract(3) 72 all_hematologic(146;0.0958)|Acute lymphoblastic leukemia(166;0.155) Myeloproliferative disorder(586;0.0333) GAGAGGAGCAGCGGCGGCGGCGG 0.631 10 593 --- --- --- --- SLC6A9 6536 broad.mit.edu 37 1 44489938 44489938 + Frame_Shift_Del DEL T T - TCGA-FB-AAPZ-01A-11D-A40W-08 TCGA-FB-AAPZ-11A-11D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2feaf6e8-f76a-4c02-9536-689e3ad149de 3b27aea6-7bdb-48d4-9fef-c5748fef457d g.chr1:44489938delT ENST00000372310.3 - 2 177 c.12delA c.(10-12)aafs p.K4fs SLC6A9_ENST00000537678.1_5'UTR|SLC6A9_ENST00000475075.2_5'UTR|SLC6A9_ENST00000492434.2_5'UTR|SLC6A9_ENST00000372306.3_Frame_Shift_Del_p.K4fs NM_001024845.2 NP_001020016.1 P48067 SC6A9_HUMAN solute carrier family 6 (neurotransmitter transporter, glycine), member 9 335 integral to plasma membrane|membrane fraction glycine:sodium symporter activity|neurotransmitter:sodium symporter activity endometrium(3)|large_intestine(8)|lung(7)|ovary(1)|skin(1)|urinary_tract(2) 22 Acute lymphoblastic leukemia(166;0.155) Myeloproliferative disorder(586;0.0511) Glycine(DB00145) CTTTGGCACCTTTTCCTACCA 0.627 7 1578 --- --- --- --- TNNI3K 51086 broad.mit.edu 37 1 74957824 74957826 + In_Frame_Del DEL CTT CTT - TCGA-FB-AAPZ-01A-11D-A40W-08 TCGA-FB-AAPZ-11A-11D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2feaf6e8-f76a-4c02-9536-689e3ad149de 3b27aea6-7bdb-48d4-9fef-c5748fef457d g.chr1:74957824_74957826delCTT ENST00000370891.2 + 25 2544_2546 c.2528_2530delCTT c.(2527-2532)cct>c p.PS843del FPGT-TNNI3K_ENST00000557284.1_In_Frame_Del_p.PS843del|TNNI3K_ENST00000326637.3_In_Frame_Del_p.PS742del|LRRC53_ENST00000294635.4_Intron NM_001112808.2 NP_001106279.1 TNNI3 interacting kinase cervix(1)|endometrium(3)|kidney(5)|large_intestine(21)|lung(31)|ovary(4)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(3) 76 TCTCTCTCACCTTCTTCTTCTTC 0.473 12 962 --- --- --- --- NGF 4803 broad.mit.edu 37 1 115828721 115828722 + Frame_Shift_Del DEL CA CA - TCGA-FB-AAPZ-01A-11D-A40W-08 TCGA-FB-AAPZ-11A-11D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2feaf6e8-f76a-4c02-9536-689e3ad149de 3b27aea6-7bdb-48d4-9fef-c5748fef457d g.chr1:115828721_115828722delCA ENST00000369512.2 - 3 863_864 c.695_696delTG c.(694-696)gfs p.V232fs RP4-663N10.1_ENST00000425449.1_RNA NM_002506.2 NP_002497.2 P01138 NGF_HUMAN nerve growth factor (beta polypeptide) 232 activation of MAPKK activity|activation of phospholipase C activity|anti-apoptosis|apoptosis|induction of apoptosis by extracellular signals|negative regulation of cell cycle|nerve growth factor processing|nerve growth factor receptor signaling pathway|phosphatidylinositol-mediated signaling|Ras protein signal transduction endosome|Golgi lumen growth factor activity|nerve growth factor receptor binding breast(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(2)|lung(2)|ovary(1)|skin(2)|upper_aerodigestive_tract(2) 13 Lung SC(450;0.211) all_cancers(81;1.07e-06)|all_epithelial(167;4.43e-06)|all_lung(203;2.86e-05)|Lung NSC(69;4.99e-05) Lung(183;0.0234)|Colorectal(144;0.0686)|COAD - Colon adenocarcinoma(174;0.111)|LUSC - Lung squamous cell carcinoma(189;0.133)|all cancers(265;0.159)|Epithelial(280;0.179) Clenbuterol(DB01407) TCCTGCTGAGCACACACACACA 0.579 9 404 --- --- --- --- NOS1AP 9722 broad.mit.edu 37 1 162326888 162326890 + In_Frame_Del DEL CAG CAG - TCGA-FB-AAPZ-01A-11D-A40W-08 TCGA-FB-AAPZ-11A-11D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2feaf6e8-f76a-4c02-9536-689e3ad149de 3b27aea6-7bdb-48d4-9fef-c5748fef457d g.chr1:162326888_162326890delCAG ENST00000361897.5 + 8 1303_1305 c.901_903delCAG c.(901-903)del p.Q306del NOS1AP_ENST00000530878.1_In_Frame_Del_p.Q301del NM_001164757.1|NM_014697.2 NP_001158229.1|NP_055512.1 O75052 CAPON_HUMAN nitric oxide synthase 1 (neuronal) adaptor protein 306 Poly-Gln. regulation of apoptosis|regulation of nitric oxide biosynthetic process|regulation of nitric-oxide synthase activity nitric-oxide synthase binding|PDZ domain binding NS(1)|breast(1)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(7)|lung(12)|skin(1)|upper_aerodigestive_tract(2) 32 all_hematologic(112;0.203) BRCA - Breast invasive adenocarcinoma(70;0.0537) gcagctcctccagcagcAGCAGC 0.611 7 268 --- --- --- --- RYR2 6262 broad.mit.edu 37 1 237969494 237969494 + Frame_Shift_Del DEL T T - TCGA-FB-AAPZ-01A-11D-A40W-08 TCGA-FB-AAPZ-11A-11D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2feaf6e8-f76a-4c02-9536-689e3ad149de 3b27aea6-7bdb-48d4-9fef-c5748fef457d g.chr1:237969494delT ENST00000366574.2 + 99 14526 c.14209delT c.(14209-14211)ttfs p.F4739fs RYR2_ENST00000542537.1_Frame_Shift_Del_p.F4723fs|RYR2_ENST00000360064.6_Frame_Shift_Del_p.F4745fs NM_001035.2 NP_001026.2 Q92736 RYR2_HUMAN ryanodine receptor 2 (cardiac) 4739 cardiac muscle contraction|detection of calcium ion|induction of apoptosis by ionic changes|regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion|release of sequestered calcium ion into cytosol by sarcoplasmic reticulum|response to caffeine|response to hypoxia|response to redox state calcium channel complex|cytosol|plasma membrane|plasma membrane enriched fraction|sarcoplasmic reticulum membrane calcium ion binding|calmodulin binding|identical protein binding|protein kinase A catalytic subunit binding|protein kinase A regulatory subunit binding|receptor activity|ryanodine-sensitive calcium-release channel activity|suramin binding NS(4)|breast(8)|central_nervous_system(11)|cervix(2)|endometrium(39)|haematopoietic_and_lymphoid_tissue(5)|kidney(17)|large_intestine(83)|liver(4)|lung(353)|ovary(18)|pancreas(5)|prostate(12)|skin(8)|stomach(1)|upper_aerodigestive_tract(12)|urinary_tract(4) 586 Ovarian(103;0.103) all_cancers(173;0.000368)|Melanoma(53;0.0179)|all_epithelial(177;0.0225) OV - Ovarian serous cystadenocarcinoma(106;0.00606) CTATAACAACTTTTTTTTTGC 0.403 7 203 --- --- --- --- RTN4 57142 broad.mit.edu 37 2 55253745 55253746 + Frame_Shift_Ins INS - - T TCGA-FB-AAPZ-01A-11D-A40W-08 TCGA-FB-AAPZ-11A-11D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2feaf6e8-f76a-4c02-9536-689e3ad149de 3b27aea6-7bdb-48d4-9fef-c5748fef457d g.chr2:55253745_55253746insT ENST00000337526.6 - 3 1732_1733 c.1489_1490insA c.(1489-1491)agafs p.R497fs RTN4_ENST00000357732.4_Intron|RTN4_ENST00000317610.7_Intron|RTN4_ENST00000404909.1_Frame_Shift_Ins_p.R291fs|RTN4_ENST00000405240.1_Frame_Shift_Ins_p.R291fs|RTN4_ENST00000402434.2_Intron|RTN4_ENST00000394611.2_Frame_Shift_Ins_p.R291fs|RTN4_ENST00000357376.3_Frame_Shift_Ins_p.R291fs|RTN4_ENST00000354474.6_Frame_Shift_Ins_p.R265fs 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 9 487 --- --- --- --- USP34 9736 broad.mit.edu 37 2 61575023 61575025 + In_Frame_Del DEL TGG TGG - TCGA-FB-AAPZ-01A-11D-A40W-08 TCGA-FB-AAPZ-11A-11D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2feaf6e8-f76a-4c02-9536-689e3ad149de 3b27aea6-7bdb-48d4-9fef-c5748fef457d g.chr2:61575023_61575025delTGG ENST00000398571.2 - 15 2341_2343 c.2265_2267delCCA c.(2263-2268)cat>ca p.HH759del NM_014709.3 NP_055524.3 Q70CQ2 UBP34_HUMAN ubiquitin specific peptidase 34 759 positive regulation of canonical Wnt receptor signaling pathway|protein K48-linked deubiquitination|ubiquitin-dependent protein catabolic process|Wnt receptor signaling pathway cysteine-type endopeptidase activity|protein binding|ubiquitin thiolesterase activity|ubiquitin-specific protease activity autonomic_ganglia(1)|breast(14)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(24)|lung(52)|ovary(8)|prostate(10)|skin(6)|urinary_tract(2) 138 Epithelial(17;0.229) gtggtggtgatggtggtggtggt 0.389 7 359 --- --- --- --- WBP1 23559 broad.mit.edu 37 2 74687550 74687550 + Frame_Shift_Del DEL T T - rs8469 byFrequency TCGA-FB-AAPZ-01A-11D-A40W-08 TCGA-FB-AAPZ-11A-11D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2feaf6e8-f76a-4c02-9536-689e3ad149de 3b27aea6-7bdb-48d4-9fef-c5748fef457d g.chr2:74687550delT ENST00000393972.3 + 5 857 c.654delT c.(652-654)ccfs p.P218fs WBP1_ENST00000233615.2_Frame_Shift_Del_p.P184fs|WBP1_ENST00000409737.1_Frame_Shift_Del_p.P181fs|WBP1_ENST00000494741.1_3'UTR Q96G27 WBP1_HUMAN WW domain binding protein 1 184 WW domain binding endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(1)|ovary(1)|urinary_tract(1) 8 GTGCCCCCCCTCATCAGGAGG 0.612 8 798 --- --- --- --- TMEM127 55654 broad.mit.edu 37 2 96919781 96919783 + In_Frame_Del DEL TGC TGC - TCGA-FB-AAPZ-01A-11D-A40W-08 TCGA-FB-AAPZ-11A-11D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2feaf6e8-f76a-4c02-9536-689e3ad149de 3b27aea6-7bdb-48d4-9fef-c5748fef457d g.chr2:96919781_96919783delTGC ENST00000258439.2 - 4 736_738 c.480_482delGCA c.(478-483)cat>ca p.QH160del TMEM127_ENST00000435268.1_In_Frame_Del_p.QH76del|TMEM127_ENST00000432959.1_In_Frame_Del_p.QH160del NM_001193304.2|NM_017849.3 NP_001180233.1|NP_060319.1 O75204 TM127_HUMAN transmembrane protein 127 160 negative regulation of cell proliferation|negative regulation of TOR signaling cascade cytoplasm|integral to membrane|plasma membrane endometrium(1)|large_intestine(1)|lung(1)|prostate(1)|stomach(1) 5 GTACTTCTTATGCTGCTGCTGCT 0.557 9 490 --- --- --- --- SSB 6741 broad.mit.edu 37 2 170665008 170665008 + Frame_Shift_Del DEL A A - TCGA-FB-AAPZ-01A-11D-A40W-08 TCGA-FB-AAPZ-11A-11D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2feaf6e8-f76a-4c02-9536-689e3ad149de 3b27aea6-7bdb-48d4-9fef-c5748fef457d g.chr2:170665008delA ENST00000409333.1 + 7 818 c.571delA c.(571-573)aafs p.K192fs SSB_ENST00000260956.4_Frame_Shift_Del_p.K192fs P05455 LA_HUMAN Sjogren syndrome antigen B (autoantigen La) 192 histone mRNA metabolic process|tRNA modification nucleus|ribonucleoprotein complex mRNA binding|nucleotide binding|protein binding|tRNA binding endometrium(3)|large_intestine(2)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1) 12 TTACTTTGCCAAAAAAAATGA 0.323 10 426 --- --- --- --- IRS1 3667 broad.mit.edu 37 2 227660808 227660810 + In_Frame_Del DEL GCT GCT - TCGA-FB-AAPZ-01A-11D-A40W-08 TCGA-FB-AAPZ-11A-11D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2feaf6e8-f76a-4c02-9536-689e3ad149de 3b27aea6-7bdb-48d4-9fef-c5748fef457d g.chr2:227660808_227660810delGCT ENST00000305123.4 - 1 3665_3667 c.2645_2647delAGC c.(2644-2649)ccc>c p.QP882del NM_005544.2 NP_005535.1 P35568 IRS1_HUMAN insulin receptor substrate 1 882 Poly-Gln. fibroblast growth factor receptor signaling pathway|glucose homeostasis|insulin receptor signaling pathway|negative regulation of insulin receptor signaling pathway|negative regulation of insulin secretion|nerve growth factor receptor signaling pathway|phosphatidylinositol 3-kinase cascade|phosphatidylinositol-mediated signaling|positive regulation of fatty acid beta-oxidation|positive regulation of glucose import|positive regulation of glycogen biosynthetic process|positive regulation of insulin receptor signaling pathway|positive regulation of phosphatidylinositol 3-kinase activity caveola|cytosol|insulin receptor complex|microsome|nucleus insulin receptor binding|insulin-like growth factor receptor binding|phosphatidylinositol 3-kinase binding|protein kinase C binding|SH2 domain binding|transmembrane receptor protein tyrosine kinase adaptor activity autonomic_ganglia(1)|breast(2)|central_nervous_system(4)|endometrium(5)|kidney(4)|large_intestine(10)|lung(33)|ovary(6)|pancreas(1)|prostate(1)|urinary_tract(2) 69 Renal(207;0.023)|all_lung(227;0.0994)|all_hematologic(139;0.118)|Esophageal squamous(248;0.23) Epithelial(121;3.03e-11)|all cancers(144;2.42e-08)|Lung(261;0.00712)|LUSC - Lung squamous cell carcinoma(224;0.0137) TGCAGCAAGGgctgctgctgctg 0.626 8 444 --- --- --- --- COL4A4 1286 broad.mit.edu 37 2 227896886 227896886 + Frame_Shift_Del DEL C C - rs2229812 by1000genomes TCGA-FB-AAPZ-01A-11D-A40W-08 TCGA-FB-AAPZ-11A-11D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2feaf6e8-f76a-4c02-9536-689e3ad149de 3b27aea6-7bdb-48d4-9fef-c5748fef457d g.chr2:227896886delC ENST00000396625.3 - 39 3891 c.3684delG c.(3682-3684)aafs p.K1229fs COL4A4_ENST00000329662.7_Frame_Shift_Del_p.K1229fs NM_000092.4 NP_000083.3 P53420 CO4A4_HUMAN collagen, type IV, alpha 4 1229 Triple-helical region. axon guidance|glomerular basement membrane development basal lamina|collagen type IV extracellular matrix structural constituent|protein binding breast(2)|central_nervous_system(3)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(15)|lung(35)|ovary(5)|pancreas(3)|prostate(2)|skin(12)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(3) 98 Renal(207;0.00844)|all_lung(227;0.0187)|Lung NSC(271;0.0879)|all_hematologic(139;0.21)|Esophageal squamous(248;0.242) Epithelial(121;6.7e-11)|all cancers(144;5.39e-08)|Lung(261;0.0132)|LUSC - Lung squamous cell carcinoma(224;0.0181) GGGGACCTTTCTTTCCACGAG 0.522 10 707 --- --- --- --- AC034193.5 0 broad.mit.edu 37 3 10035779 10035783 + RNA DEL AGTCT AGTCT - rs35714562 TCGA-FB-AAPZ-01A-11D-A40W-08 TCGA-FB-AAPZ-11A-11D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2feaf6e8-f76a-4c02-9536-689e3ad149de 3b27aea6-7bdb-48d4-9fef-c5748fef457d g.chr3:10035779_10035783delAGTCT ENST00000326237.3 + 0 354 GGGGAAGAGAAGTCTGATCTGACAT 0.380 19 153 --- --- --- --- PDCD6IP 10015 broad.mit.edu 37 3 33866811 33866811 + Frame_Shift_Del DEL T T - TCGA-FB-AAPZ-01A-11D-A40W-08 TCGA-FB-AAPZ-11A-11D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2feaf6e8-f76a-4c02-9536-689e3ad149de 3b27aea6-7bdb-48d4-9fef-c5748fef457d g.chr3:33866811delT ENST00000307296.3 + 5 972 c.595delT c.(595-597)ttfs p.F200fs PDCD6IP_ENST00000457054.2_Frame_Shift_Del_p.F200fs Q8WUM4 PDC6I_HUMAN programmed cell death 6 interacting protein 200 BRO1.|Interaction with CHMP4A, CHMP4B and CHMP4C.|Interaction with EIAV p9. apoptosis|cell cycle|cell division|interspecies interaction between organisms|protein transport cytosol|melanosome|microtubule organizing center calcium-dependent protein binding central_nervous_system(3)|endometrium(1)|kidney(2)|large_intestine(7)|lung(6)|ovary(2)|skin(1)|stomach(1) 23 TCAAGAAGTATTTTTTTTAAA 0.368 9 446 --- --- --- --- ERC2 26059 broad.mit.edu 37 3 55733470 55733472 + In_Frame_Del DEL TGG TGG - TCGA-FB-AAPZ-01A-11D-A40W-08 TCGA-FB-AAPZ-11A-11D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2feaf6e8-f76a-4c02-9536-689e3ad149de 3b27aea6-7bdb-48d4-9fef-c5748fef457d g.chr3:55733470_55733472delTGG ENST00000288221.6 - 16 3036_3038 c.2781_2783delCCA c.(2779-2784)cat>ca p.HH931del NM_015576.1 NP_056391.1 O15083 ERC2_HUMAN ELKS/RAB6-interacting/CAST family member 2 931 Poly-His. cell junction|cytoplasm|cytoskeleton|growth cone|presynaptic membrane|synaptosome protein binding breast(2)|endometrium(5)|large_intestine(6)|liver(1)|lung(14)|ovary(2)|urinary_tract(1) 31 KIRC - Kidney renal clear cell carcinoma(284;0.0667)|Kidney(284;0.0873)|OV - Ovarian serous cystadenocarcinoma(275;0.219) gtggtggtgatggtggtggtggt 0.502 8 943 --- --- --- --- LNP1 348801 broad.mit.edu 37 3 100148586 100148588 + In_Frame_Del DEL GAT GAT - TCGA-FB-AAPZ-01A-11D-A40W-08 TCGA-FB-AAPZ-11A-11D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2feaf6e8-f76a-4c02-9536-689e3ad149de 3b27aea6-7bdb-48d4-9fef-c5748fef457d 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 10 1230 --- --- --- --- FAM86JP 0 broad.mit.edu 37 3 125647339 125647339 + RNA DEL C C - TCGA-FB-AAPZ-01A-11D-A40W-08 TCGA-FB-AAPZ-11A-11D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2feaf6e8-f76a-4c02-9536-689e3ad149de 3b27aea6-7bdb-48d4-9fef-c5748fef457d g.chr3:125647339delC ENST00000485843.1 + 0 484 NR_024251.1 TGTTTCCAGGCCAGGCCAGGA 0.557 7 558 --- --- --- --- PCOLCE2 26577 broad.mit.edu 37 3 142548586 142548586 + Frame_Shift_Del DEL T T - TCGA-FB-AAPZ-01A-11D-A40W-08 TCGA-FB-AAPZ-11A-11D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2feaf6e8-f76a-4c02-9536-689e3ad149de 3b27aea6-7bdb-48d4-9fef-c5748fef457d g.chr3:142548586delT ENST00000295992.3 - 6 1119 c.813delA c.(811-813)aafs p.K271fs PCOLCE2_ENST00000485766.1_Intron NM_013363.3 NP_037495.1 Q9UKZ9 PCOC2_HUMAN procollagen C-endopeptidase enhancer 2 271 extracellular region collagen binding|heparin binding|peptidase activator activity NS(1)|endometrium(1)|large_intestine(11)|lung(15)|ovary(2)|skin(1)|upper_aerodigestive_tract(1) 32 TTGTAGGCAGTTTTTTTGGCC 0.383 7 973 --- --- --- --- WWTR1 25937 broad.mit.edu 37 3 149260194 149260196 + In_Frame_Del DEL CTG CTG - TCGA-FB-AAPZ-01A-11D-A40W-08 TCGA-FB-AAPZ-11A-11D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2feaf6e8-f76a-4c02-9536-689e3ad149de 3b27aea6-7bdb-48d4-9fef-c5748fef457d 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 11 336 --- --- --- --- MED12L 116931 broad.mit.edu 37 3 150877786 150877786 + Frame_Shift_Del DEL C C - TCGA-FB-AAPZ-01A-11D-A40W-08 TCGA-FB-AAPZ-11A-11D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2feaf6e8-f76a-4c02-9536-689e3ad149de 3b27aea6-7bdb-48d4-9fef-c5748fef457d g.chr3:150877786delC ENST00000474524.1 + 7 1043 c.1005delC c.(1003-1005)ggfs p.G335fs MED12L_ENST00000422248.2_Frame_Shift_Del_p.G335fs|MED12L_ENST00000309237.4_Frame_Shift_Del_p.G335fs|MED12L_ENST00000273432.4_Intron NM_053002.4 NP_443728.3 Q86YW9 MD12L_HUMAN mediator complex subunit 12-like 335 regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent mediator complex NS(1)|breast(3)|central_nervous_system(3)|cervix(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|kidney(9)|large_intestine(27)|lung(50)|ovary(6)|prostate(3)|skin(4)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(1) 128 LUSC - Lung squamous cell carcinoma(72;0.0394)|Lung(72;0.0517) CCAGCCCTGGCCCCCCCGGCC 0.582 8 841 --- --- --- --- TIGD2 166815 broad.mit.edu 37 4 90035666 90035667 + Frame_Shift_Ins INS - - A TCGA-FB-AAPZ-01A-11D-A40W-08 TCGA-FB-AAPZ-11A-11D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2feaf6e8-f76a-4c02-9536-689e3ad149de 3b27aea6-7bdb-48d4-9fef-c5748fef457d g.chr4:90035666_90035667insA ENST00000317005.2 + 1 1699_1700 c.1541_1542insA c.(1540-1542)aaafs p.K514fs NM_145715.2 NP_663761.1 Q4W5G0 TIGD2_HUMAN tigger transposable element derived 2 514 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) ACCATAATAAGAAAAAAACAGA 0.337 85 412 --- --- --- --- CXXC4 80319 broad.mit.edu 37 4 105412465 105412467 + In_Frame_Del DEL GCC GCC - TCGA-FB-AAPZ-01A-11D-A40W-08 TCGA-FB-AAPZ-11A-11D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2feaf6e8-f76a-4c02-9536-689e3ad149de 3b27aea6-7bdb-48d4-9fef-c5748fef457d g.chr4:105412465_105412467delGCC ENST00000394767.2 - 2 943_945 c.493_495delGGC c.(493-495)del p.G165del CXXC4_ENST00000466963.1_Intron|CXXC4_ENST00000426831.1_5'UTR|AC004053.1_ENST00000500179.1_RNA NM_025212.2 NP_079488.2 Q9H2H0 CXXC4_HUMAN CXXC finger protein 4 0 Interaction with DVL1 (By similarity). negative regulation of Wnt receptor signaling pathway|Wnt receptor signaling pathway|zygotic specification of dorsal/ventral axis DNA binding|PDZ domain binding|zinc ion binding kidney(1)|large_intestine(1)|lung(5)|ovary(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 11 OV - Ovarian serous cystadenocarcinoma(123;3.05e-08) TGGTCCTgctgccgccgccgccg 0.695 7 360 --- --- --- --- TRIO 7204 broad.mit.edu 37 5 14358383 14358385 + In_Frame_Del DEL CAG CAG - TCGA-FB-AAPZ-01A-11D-A40W-08 TCGA-FB-AAPZ-11A-11D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2feaf6e8-f76a-4c02-9536-689e3ad149de 3b27aea6-7bdb-48d4-9fef-c5748fef457d g.chr5:14358383_14358385delCAG ENST00000344204.4 + 12 2167_2169 c.2143_2145delCAG c.(2143-2145)del p.Q718del TRIO_ENST00000509967.2_In_Frame_Del_p.Q669del|TRIO_ENST00000537187.1_In_Frame_Del_p.Q718del NM_007118.2 NP_009049.2 O75962 TRIO_HUMAN trio Rho guanine nucleotide exchange factor 718 Poly-Gln. apoptosis|axon guidance|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction|transmembrane receptor protein tyrosine phosphatase signaling pathway cytosol ATP binding|protein serine/threonine kinase activity|Rho guanyl-nucleotide exchange factor activity NS(2)|breast(6)|central_nervous_system(4)|endometrium(16)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(21)|lung(34)|ovary(4)|prostate(2)|skin(11)|stomach(3)|upper_aerodigestive_tract(3)|urinary_tract(4) 118 Lung NSC(4;0.000742) GCGCTTTGGCCAGCAGCAGCAGA 0.631 7 570 --- --- --- --- C6 729 broad.mit.edu 37 5 41160299 41160300 + Frame_Shift_Del DEL AC AC - TCGA-FB-AAPZ-01A-11D-A40W-08 TCGA-FB-AAPZ-11A-11D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2feaf6e8-f76a-4c02-9536-689e3ad149de 3b27aea6-7bdb-48d4-9fef-c5748fef457d g.chr5:41160299_41160300delAC ENST00000263413.3 - 11 1892_1893 c.1628_1629delGT c.(1627-1629)tfs p.C543fs C6_ENST00000337836.5_Frame_Shift_Del_p.C543fs NM_001115131.1 NP_001108603.2 P13671 CO6_HUMAN complement component 6 543 EGF-like. complement activation, classical pathway|cytolysis|innate immune response membrane attack complex protein binding central_nervous_system(2)|cervix(2)|endometrium(2)|kidney(7)|large_intestine(16)|liver(1)|lung(51)|ovary(3)|prostate(1)|skin(9)|upper_aerodigestive_tract(2) 96 Breast(839;1.07e-05)|Ovarian(839;0.0228)|Lung SC(612;0.0548)|Lung NSC(810;0.128)|all_neural(839;0.157) TGCCACTCTGACACACACACAG 0.475 8 746 --- --- --- --- MSH3 4437 broad.mit.edu 37 5 79950724 79950725 + In_Frame_Ins INS - - CCGCAGCGC rs70991168 TCGA-FB-AAPZ-01A-11D-A40W-08 TCGA-FB-AAPZ-11A-11D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2feaf6e8-f76a-4c02-9536-689e3ad149de 3b27aea6-7bdb-48d4-9fef-c5748fef457d g.chr5:79950724_79950725insCCGCAGCGC ENST00000265081.6 + 1 258_259 c.178_179insCCGCAGCGC c.(178-180)cgc>CCGCAGCGCcgc p.59_60insPQR DHFR_ENST00000439211.2_5'UTR NM_002439.4 NP_002430.3 P20585 MSH3_HUMAN mutS homolog 3 59 Poly-Ala. Missing. 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) ggccgcagcggccgcagcgCCC 0.708 Mismatch excision repair (MMR) 16 25 --- --- --- --- DND1 373863 broad.mit.edu 37 5 140052285 140052285 + Frame_Shift_Del DEL T T - TCGA-FB-AAPZ-01A-11D-A40W-08 TCGA-FB-AAPZ-11A-11D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2feaf6e8-f76a-4c02-9536-689e3ad149de 3b27aea6-7bdb-48d4-9fef-c5748fef457d g.chr5:140052285delT ENST00000542735.1 - 3 392 c.349delA c.(349-351)cgfs p.T117fs NM_194249.2 NP_919225.1 Q8IYX4 DND1_HUMAN DND microRNA-mediated repression inhibitor 1 117 RRM 1. multicellular organismal development|negative regulation of gene silencing by miRNA cytoplasm|nucleus AU-rich element binding|nucleotide binding p.T117fs*24(1) central_nervous_system(1)|prostate(4) 5 KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191) TTGTGCAGCGTGGCGATGGCG 0.682 18 63 --- --- --- --- BNIP1 662 broad.mit.edu 37 5 172578611 172578611 + Frame_Shift_Del DEL T T - TCGA-FB-AAPZ-01A-11D-A40W-08 TCGA-FB-AAPZ-11A-11D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2feaf6e8-f76a-4c02-9536-689e3ad149de 3b27aea6-7bdb-48d4-9fef-c5748fef457d g.chr5:172578611delT ENST00000231668.9 + 3 324 c.220delT c.(220-222)ttfs p.F76fs BNIP1_ENST00000351486.5_Intron|BNIP1_ENST00000393770.4_Intron|BNIP1_ENST00000352523.6_Frame_Shift_Del_p.F76fs NM_013979.2 NP_053582.2 Q12981 SEC20_HUMAN BCL2/adenovirus E1B 19kDa interacting protein 1 59 anti-apoptosis|apoptosis|endoplasmic reticulum membrane fusion|endoplasmic reticulum organization|induction of apoptosis|vesicle-mediated transport integral to endoplasmic reticulum membrane|nuclear envelope|SNARE complex protein binding breast(1)|kidney(2)|large_intestine(2)|lung(3)|ovary(1)|pancreas(1)|skin(1) 11 Renal(175;0.000159)|Lung NSC(126;0.00199)|all_lung(126;0.00351) Medulloblastoma(196;0.0208)|all_neural(177;0.0416) Kidney(164;3.85e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000183) TGCTTCCACATTTTTTTTTAA 0.348 21 474 --- --- --- --- RIOK1 83732 broad.mit.edu 37 6 7393450 7393452 + In_Frame_Del DEL GAC GAC - rs2274212 byFrequency TCGA-FB-AAPZ-01A-11D-A40W-08 TCGA-FB-AAPZ-11A-11D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2feaf6e8-f76a-4c02-9536-689e3ad149de 3b27aea6-7bdb-48d4-9fef-c5748fef457d g.chr6:7393450_7393452delGAC ENST00000379834.2 + 2 697_699 c.190_192delGAC c.(190-192)del p.D69del NM_031480.2|NM_153005.1 NP_113668.2|NP_694550.1 Q9BRS2 RIOK1_HUMAN RIO kinase 1 69 ATP binding|protein serine/threonine kinase activity p.D57G(1) cervix(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(6)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1) 19 Ovarian(93;0.0418) ggagggttatgacgatgatgatg 0.433 7 427 --- --- --- --- SYNGAP1 8831 broad.mit.edu 37 6 33411201 33411203 + In_Frame_Del DEL CAC CAC - TCGA-FB-AAPZ-01A-11D-A40W-08 TCGA-FB-AAPZ-11A-11D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2feaf6e8-f76a-4c02-9536-689e3ad149de 3b27aea6-7bdb-48d4-9fef-c5748fef457d g.chr6:33411201_33411203delCAC ENST00000418600.2 + 15 2973_2975 c.2872_2874delCAC c.(2872-2874)del p.H966del SYNGAP1_ENST00000428982.2_In_Frame_Del_p.H907del|SYNGAP1_ENST00000293748.5_In_Frame_Del_p.H966del|SYNGAP1_ENST00000496374.1_3'UTR NM_006772.2 NP_006763.2 Q96PV0 SYGP1_HUMAN synaptic Ras GTPase activating protein 1 966 negative regulation of Ras protein signal transduction|signal transduction cytoplasm|intrinsic to internal side of plasma membrane Ras GTPase activator activity|SH3 domain binding breast(2)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(9)|lung(15)|ovary(7)|pancreas(1)|stomach(1)|urinary_tract(1) 43 TTCCTCccatcaccaccaccacc 0.645 10 921 --- --- --- --- RUNX2 860 broad.mit.edu 37 6 45296446 45296446 + Frame_Shift_Del DEL A A - TCGA-FB-AAPZ-01A-11D-A40W-08 TCGA-FB-AAPZ-11A-11D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2feaf6e8-f76a-4c02-9536-689e3ad149de 3b27aea6-7bdb-48d4-9fef-c5748fef457d g.chr6:45296446delA ENST00000352853.5 + 2 187 c.187delA c.(187-189)aafs p.K65fs SUPT3H_ENST00000371459.1_Intron|SUPT3H_ENST00000371460.1_Intron|RUNX2_ENST00000371438.1_5'UTR|SUPT3H_ENST00000459689.1_Intron|SUPT3H_ENST00000306867.5_Intron|RUNX2_ENST00000541979.1_Frame_Shift_Del_p.K65fs|RUNX2_ENST00000483243.1_3'UTR|RUNX2_ENST00000465038.2_5'UTR Q13950 RUNX2_HUMAN runt-related transcription factor 2 0 Poly-Gln. negative regulation of transcription, DNA-dependent|osteoblast differentiation|positive regulation of transcription, DNA-dependent nucleus ATP binding|DNA binding|protein binding|sequence-specific DNA binding transcription factor activity breast(2)|endometrium(2)|kidney(1)|large_intestine(5)|liver(1)|lung(18)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1) 34 GTTCTATCTGAAAAAAAAAGG 0.388 8 387 --- --- --- --- CCDC28A 25901 broad.mit.edu 37 6 139097330 139097330 + Frame_Shift_Del DEL A A - TCGA-FB-AAPZ-01A-11D-A40W-08 TCGA-FB-AAPZ-11A-11D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2feaf6e8-f76a-4c02-9536-689e3ad149de 3b27aea6-7bdb-48d4-9fef-c5748fef457d g.chr6:139097330delA ENST00000332797.6 + 2 498 c.343delA c.(343-345)aafs p.K116fs NM_015439.2 NP_056254.1 Q8IWP9 CC28A_HUMAN coiled-coil domain containing 28A 116 p.N117fs*5(2) autonomic_ganglia(1)|large_intestine(3)|lung(8)|ovary(1) 13 OV - Ovarian serous cystadenocarcinoma(155;0.000201)|GBM - Glioblastoma multiforme(68;0.000306) TGTCAATGCCAAAAAAAATGC 0.413 8 340 --- --- --- --- PMS2CL 0 broad.mit.edu 37 7 6775132 6775133 + RNA INS - - TT rs72390141 TCGA-FB-AAPZ-01A-11D-A40W-08 TCGA-FB-AAPZ-11A-11D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2feaf6e8-f76a-4c02-9536-689e3ad149de 3b27aea6-7bdb-48d4-9fef-c5748fef457d g.chr7:6775132_6775133insTT ENST00000486256.1 + 0 833 NR_002217.1 GGTCATGTAAGTTTTTTTTTTT 0.401 7 21 --- --- --- --- GARS 2617 broad.mit.edu 37 7 30634583 30634585 + In_Frame_Del DEL CTG CTG - TCGA-FB-AAPZ-01A-11D-A40W-08 TCGA-FB-AAPZ-11A-11D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2feaf6e8-f76a-4c02-9536-689e3ad149de 3b27aea6-7bdb-48d4-9fef-c5748fef457d g.chr7:30634583_30634585delCTG ENST00000389266.3 + 1 287_289 c.46_48delCTG c.(46-48)del p.L20del NM_002047.2 NP_002038.2 P41250 SYG_HUMAN glycyl-tRNA synthetase 20 cell death|diadenosine tetraphosphate biosynthetic process|glycyl-tRNA aminoacylation cytosol|mitochondrial matrix|soluble fraction ATP binding|glycine-tRNA ligase activity|protein dimerization activity breast(3)|endometrium(2)|kidney(1)|large_intestine(4)|lung(9)|ovary(1)|skin(3)|urinary_tract(1) 24 Glycine(DB00145) TCGCGCCGCTCTGCTGCTGCTGC 0.749 7 105 --- --- --- --- STAG3L2 0 broad.mit.edu 37 7 74300557 74300564 + RNA DEL AGAGCTCC AGAGCTCC - TCGA-FB-AAPZ-01A-11D-A40W-08 TCGA-FB-AAPZ-11A-11D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2feaf6e8-f76a-4c02-9536-689e3ad149de 3b27aea6-7bdb-48d4-9fef-c5748fef457d g.chr7:74300557_74300564delAGAGCTCC ENST00000423186.1 - 0 573_580 P0CL84 ST3L2_HUMAN nucleus binding p.E82fs*32(2) breast(1)|central_nervous_system(1)|large_intestine(1)|lung(1)|pancreas(1) 5 CGGCCAGTGAAGAGCTCCAGGCGTGCGG 0.572 19 44 --- --- --- --- SRRT 51593 broad.mit.edu 37 7 100479332 100479332 + Frame_Shift_Del DEL G G - TCGA-FB-AAPZ-01A-11D-A40W-08 TCGA-FB-AAPZ-11A-11D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2feaf6e8-f76a-4c02-9536-689e3ad149de 3b27aea6-7bdb-48d4-9fef-c5748fef457d g.chr7:100479332delG ENST00000388793.4 + 4 524 c.304delG c.(304-306)ggfs p.G106fs SRRT_ENST00000432932.1_Frame_Shift_Del_p.G106fs|SRRT_ENST00000457580.2_Frame_Shift_Del_p.G106fs|SRRT_ENST00000347433.4_Frame_Shift_Del_p.G106fs NM_001128852.1|NM_015908.5 NP_001122324.1|NP_056992.4 Q9BXP5 SRRT_HUMAN serrate RNA effector molecule homolog (Arabidopsis) 106 G -> GG (in Ref. 3; CAB46374). cell proliferation|primary miRNA processing|response to arsenic-containing substance cytoplasm|nucleoplasm protein binding p.G104fs*45(1) breast(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|lung(5)|ovary(3)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1) 40 GCCCTATGCTGGGGGGGGTGG 0.607 10 316 --- --- --- --- ANGPT2 285 broad.mit.edu 37 8 6378797 6378798 + Frame_Shift_Ins INS - - T rs34047276 TCGA-FB-AAPZ-01A-11D-A40W-08 TCGA-FB-AAPZ-11A-11D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2feaf6e8-f76a-4c02-9536-689e3ad149de 3b27aea6-7bdb-48d4-9fef-c5748fef457d g.chr8:6378797_6378798insT ENST00000325203.5 - 4 1174_1175 c.700_701insA c.(700-702)agtfs p.S234fs ANGPT2_ENST00000415216.1_Frame_Shift_Ins_p.S234fs|MCPH1_ENST00000344683.5_Intron|ANGPT2_ENST00000523120.1_Frame_Shift_Ins_p.S234fs|ANGPT2_ENST00000338312.6_Frame_Shift_Ins_p.S182fs O15123 ANGP2_HUMAN angiopoietin 2 234 angiogenesis|blood coagulation|leukocyte migration|negative regulation of blood vessel endothelial cell migration|negative regulation of positive chemotaxis|Tie receptor signaling pathway extracellular space metal ion binding|receptor tyrosine kinase binding breast(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(6)|skin(1)|upper_aerodigestive_tract(1) 17 Hepatocellular(245;0.0663) Colorectal(4;0.0142)|READ - Rectum adenocarcinoma(4;0.19)|COAD - Colon adenocarcinoma(4;0.226) GGCAGTCACTATTTTTTTTTCT 0.366 7 282 --- --- --- --- ATAD2 29028 broad.mit.edu 37 8 124368685 124368685 + Frame_Shift_Del DEL A A - TCGA-FB-AAPZ-01A-11D-A40W-08 TCGA-FB-AAPZ-11A-11D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2feaf6e8-f76a-4c02-9536-689e3ad149de 3b27aea6-7bdb-48d4-9fef-c5748fef457d g.chr8:124368685delA ENST00000287394.5 - 13 1697 c.1590delT c.(1588-1590)ttfs p.F530fs ATAD2_ENST00000521903.1_5'UTR NM_014109.3 NP_054828.2 Q6PL18 ATAD2_HUMAN ATPase family, AAA domain containing 2 530 regulation of transcription, DNA-dependent|transcription, DNA-dependent mitochondrion|nucleus ATP binding|ATPase activity breast(3)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(12)|lung(16)|ovary(3)|prostate(3)|skin(1)|urinary_tract(2) 48 Lung NSC(37;1.25e-09)|Ovarian(258;0.00838) STAD - Stomach adenocarcinoma(47;0.00288) CAATTTCGTCAAAAAAAATAA 0.413 8 462 --- --- --- --- FOXD4 2298 broad.mit.edu 37 9 118004 118005 + In_Frame_Ins INS - - CCTCGTCTTCCA TCGA-FB-AAPZ-01A-11D-A40W-08 TCGA-FB-AAPZ-11A-11D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2feaf6e8-f76a-4c02-9536-689e3ad149de 3b27aea6-7bdb-48d4-9fef-c5748fef457d g.chr9:118004_118005insCCTCGTCTTCCA ENST00000382500.2 - 1 412_413 c.115_116insTGGAAGACGAGG c.(115-117)gga>TGGAAGACGAGGgga p.38_39insWKTR NM_207305.4 NP_997188.2 Q12950 FOXD4_HUMAN forkhead box D4 38 axon extension involved in axon guidance|cartilage development|dichotomous subdivision of terminal units involved in ureteric bud branching|embryo development|enteric nervous system development|iridophore differentiation|lateral line nerve glial cell development|melanocyte differentiation|neural crest cell migration|pattern specification process|peripheral nervous system development|positive regulation of BMP signaling pathway|positive regulation of kidney development|positive regulation of transcription from RNA polymerase II promoter|regulation of sequence-specific DNA binding transcription factor activity|sympathetic nervous system development transcription factor complex DNA bending activity|double-stranded DNA binding|promoter binding|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|specific RNA polymerase II transcription factor activity|specific transcriptional repressor activity|transcription activator activity|transcription factor binding endometrium(5)|large_intestine(2)|lung(3)|prostate(1)|skin(3) 14 all_lung(41;0.218) all_cancers(5;0.0395)|Acute lymphoblastic leukemia(5;1.91e-07)|all_hematologic(5;1.95e-06) Kidney(42;0.112)|KIRC - Kidney renal clear cell carcinoma(5;0.157) all cancers(5;0.000704)|Lung(218;0.00755)|GBM - Glioblastoma multiforme(5;0.0149)|Epithelial(6;0.0154) CGCCGCCTCCTCCTCGTCTTCA 0.668 15 348 --- --- --- --- TAF1L 138474 broad.mit.edu 37 9 32633584 32633584 + Frame_Shift_Del DEL T T - TCGA-FB-AAPZ-01A-11D-A40W-08 TCGA-FB-AAPZ-11A-11D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2feaf6e8-f76a-4c02-9536-689e3ad149de 3b27aea6-7bdb-48d4-9fef-c5748fef457d g.chr9:32633584delT ENST00000242310.4 - 1 2083 c.1994delA c.(1993-1995)agfs p.K665fs RP11-555J4.4_ENST00000430787.1_RNA NM_153809.2 NP_722516.1 Q8IZX4 TAF1L_HUMAN TAF1 RNA polymerase II, TATA box binding protein (TBP)-associated factor, 210kDa-like 665 male meiosis|positive regulation of transcription, DNA-dependent|regulation of transcription from RNA polymerase II promoter|transcription initiation, DNA-dependent transcription factor TFIID complex DNA binding|histone acetyltransferase activity|protein serine/threonine kinase activity|TBP-class protein binding p.K665fs*4(2) breast(6)|central_nervous_system(4)|endometrium(14)|kidney(11)|large_intestine(32)|liver(2)|lung(68)|ovary(2)|pancreas(2)|prostate(7)|skin(9)|stomach(1)|upper_aerodigestive_tract(1) 159 LUSC - Lung squamous cell carcinoma(29;0.0181) GBM - Glioblastoma multiforme(74;0.00301) CATCTTGGCCTTTTTTTTGAT 0.478 7 692 --- --- --- --- FOXE1 2304 broad.mit.edu 37 9 100616701 100616706 + In_Frame_Del DEL GCCGCC GCCGCC - rs11279082 TCGA-FB-AAPZ-01A-11D-A40W-08 TCGA-FB-AAPZ-11A-11D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2feaf6e8-f76a-4c02-9536-689e3ad149de 3b27aea6-7bdb-48d4-9fef-c5748fef457d g.chr9:100616701_100616706delGCCGCC ENST00000375123.3 + 1 1166_1171 c.505_510delGCCGCC c.(505-510)del p.AA177del NM_004473.3 NP_004464.2 O00358 FOXE1_HUMAN forkhead box E1 (thyroid transcription factor 2) 177 Ala-rich.|Poly-Ala. cell migration|embryonic organ morphogenesis|hair follicle morphogenesis|hard palate development|lens morphogenesis in camera-type eye|negative regulation of transcription from RNA polymerase II promoter|pattern specification process|peripheral nervous system development|pharynx development|positive regulation of transcription from RNA polymerase II promoter|regulation of sequence-specific DNA binding transcription factor activity|soft palate development|thymus development|thyroid gland development|thyroid hormone generation transcription factor complex DNA bending activity|double-stranded DNA binding|promoter binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|specific RNA polymerase II transcription factor activity|specific transcriptional repressor activity|transcription activator activity|transcription factor binding central_nervous_system(1)|endometrium(1)|lung(2)|upper_aerodigestive_tract(1) 5 Acute lymphoblastic leukemia(62;0.158) Ggctgccgcagccgccgccgccgccg 0.767 13 61 --- --- --- --- STAMBPL1 57559 broad.mit.edu 37 10 90682146 90682146 + Frame_Shift_Del DEL A A - TCGA-FB-AAPZ-01A-11D-A40W-08 TCGA-FB-AAPZ-11A-11D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2feaf6e8-f76a-4c02-9536-689e3ad149de 3b27aea6-7bdb-48d4-9fef-c5748fef457d g.chr10:90682146delA ENST00000371927.3 + 10 2165 c.1207delA c.(1207-1209)aafs p.K405fs STAMBPL1_ENST00000371922.1_Frame_Shift_Del_p.K239fs|STAMBPL1_ENST00000371926.3_Frame_Shift_Del_p.K405fs|STAMBPL1_ENST00000371924.1_Frame_Shift_Del_p.K405fs Q96FJ0 STALP_HUMAN STAM binding protein-like 1 405 metal ion binding|metallopeptidase activity|protein binding breast(2)|endometrium(1)|large_intestine(2)|liver(2)|lung(2)|ovary(1)|skin(1) 11 Colorectal(252;0.0381) Colorectal(12;6.38e-05)|COAD - Colon adenocarcinoma(12;7.75e-05) TTCTGCTTGTAAAAAAAAGGG 0.423 7 399 --- --- --- --- RP11-452K12.7 0 broad.mit.edu 37 10 99161158 99161162 + RNA DEL CCTCC CCTCC - rs138147671 by1000genomes TCGA-FB-AAPZ-01A-11D-A40W-08 TCGA-FB-AAPZ-11A-11D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2feaf6e8-f76a-4c02-9536-689e3ad149de 3b27aea6-7bdb-48d4-9fef-c5748fef457d g.chr10:99161158_99161162delCCTCC ENST00000422848.1 + 0 259 CGGTTTTACACCTCCTCCTGGCTTC 0.527 12 9 --- --- --- --- INA 9118 broad.mit.edu 37 10 105048271 105048273 + In_Frame_Del DEL GAG GAG - TCGA-FB-AAPZ-01A-11D-A40W-08 TCGA-FB-AAPZ-11A-11D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2feaf6e8-f76a-4c02-9536-689e3ad149de 3b27aea6-7bdb-48d4-9fef-c5748fef457d g.chr10:105048271_105048273delGAG ENST00000369849.4 + 3 1394_1396 c.1345_1347delGAG c.(1345-1347)del p.E454del NM_032727.3 NP_116116.1 Q16352 AINX_HUMAN internexin neuronal intermediate filament protein, alpha 454 Poly-Glu.|Tail. cell differentiation|nervous system development neurofilament structural constituent of cytoskeleton p.E449_E450delEE(1) breast(2)|endometrium(2)|large_intestine(2)|lung(4)|ovary(1)|prostate(2) 13 Epithelial(162;3.45e-09)|all cancers(201;9.17e-08)|BRCA - Breast invasive adenocarcinoma(275;0.198) ACTTAAGAAAGAGGAGGAGGAGG 0.458 10 550 --- --- --- --- SLK 9748 broad.mit.edu 37 10 105727547 105727549 + In_Frame_Del DEL AGA AGA - TCGA-FB-AAPZ-01A-11D-A40W-08 TCGA-FB-AAPZ-11A-11D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2feaf6e8-f76a-4c02-9536-689e3ad149de 3b27aea6-7bdb-48d4-9fef-c5748fef457d g.chr10:105727547_105727549delAGA ENST00000369755.3 + 1 589_591 c.44_46delAGA c.(43-48)gag>g p.EK15del SLK_ENST00000335753.4_In_Frame_Del_p.EK15del NM_014720.2 NP_055535.2 Q9H2G2 SLK_HUMAN STE20-like kinase 15 apoptosis|nucleotide-excision repair cytoplasm|plasma membrane ATP binding|DNA binding|nuclease activity|protein serine/threonine kinase activity kidney(1)|lung(1)|ovary(2)|skin(2)|stomach(2) 8 Colorectal(252;0.178) Epithelial(162;5.81e-10)|all cancers(201;2.35e-08)|BRCA - Breast invasive adenocarcinoma(275;0.0165) TTGGGGAGCGAGAAGAAGAAGAA 0.448 7 512 --- --- --- --- ADD3 120 broad.mit.edu 37 10 111893350 111893350 + Frame_Shift_Del DEL A A - TCGA-FB-AAPZ-01A-11D-A40W-08 TCGA-FB-AAPZ-11A-11D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2feaf6e8-f76a-4c02-9536-689e3ad149de 3b27aea6-7bdb-48d4-9fef-c5748fef457d g.chr10:111893350delA ENST00000277900.8 + 14 2364 c.1999delA c.(1999-2001)aafs p.K669fs ADD3_ENST00000360162.3_Frame_Shift_Del_p.K669fs|ADD3_ENST00000356080.4_Frame_Shift_Del_p.K701fs NM_001121.2 NP_001112.2 Q9UEY8 ADDG_HUMAN adducin 3 (gamma) 701 cytoskeleton actin binding|calmodulin binding|metal ion binding|structural constituent of cytoskeleton central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(4)|lung(9)|ovary(2)|pancreas(1)|prostate(1)|skin(3) 29 Breast(234;0.052)|Lung NSC(174;0.223) Epithelial(162;4.15e-05)|all cancers(201;0.000587)|BRCA - Breast invasive adenocarcinoma(275;0.0742) GAAAAAGAACAAAAAAAAGGA 0.333 8 633 --- --- --- --- NUP98 4928 broad.mit.edu 37 11 3720389 3720389 + Frame_Shift_Del DEL T T - TCGA-FB-AAPZ-01A-11D-A40W-08 TCGA-FB-AAPZ-11A-11D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2feaf6e8-f76a-4c02-9536-689e3ad149de 3b27aea6-7bdb-48d4-9fef-c5748fef457d g.chr11:3720389delT ENST00000324932.7 - 25 4352 c.3932delA c.(3931-3933)acfs p.N1311fs NUP98_ENST00000355260.3_Frame_Shift_Del_p.N1311fs|NUP98_ENST00000359171.4_Frame_Shift_Del_p.N1311fs NM_016320.4|NM_139132.3 NP_057404.2|NP_624358.2 P52948 NUP98_HUMAN nucleoporin 98kDa 1328 carbohydrate metabolic process|DNA replication|glucose transport|interspecies interaction between organisms|mitotic prometaphase|mRNA transport|nuclear pore organization|protein import into nucleus, docking|regulation of glucose transport|transmembrane transport|viral reproduction cytosol|nuclear membrane|nucleoplasm|Nup107-160 complex protein binding|structural constituent of nuclear pore|transporter activity NS(1)|autonomic_ganglia(1)|breast(8)|central_nervous_system(1)|endometrium(5)|kidney(5)|large_intestine(13)|liver(1)|lung(15)|ovary(2)|prostate(2)|skin(9)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 66 Medulloblastoma(188;0.0025)|Breast(177;0.00328)|all_neural(188;0.0227) BRCA - Breast invasive adenocarcinoma(625;0.0403)|LUSC - Lung squamous cell carcinoma(625;0.116)|Lung(200;0.199) CACAGGGCTGTTTTTTTGGGT 0.512 T """HOXA9, NSD1, WHSC1L1, DDX10, TOP1, HOXD13, PMX1, HOXA13, HOXD11, HOXA11, RAP1GDS1, HOXC11""" AML 8 959 --- --- --- --- FAM111B 374393 broad.mit.edu 37 11 58892377 58892377 + Frame_Shift_Del DEL A A - TCGA-FB-AAPZ-01A-11D-A40W-08 TCGA-FB-AAPZ-11A-11D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2feaf6e8-f76a-4c02-9536-689e3ad149de 3b27aea6-7bdb-48d4-9fef-c5748fef457d g.chr11:58892377delA ENST00000343597.3 + 4 998 c.807delA c.(805-807)tcfs p.S269fs FAM111B_ENST00000411426.1_Frame_Shift_Del_p.S239fs|FAM111B_ENST00000529618.1_Frame_Shift_Del_p.S239fs NM_198947.3 NP_945185.1 Q6SJ93 F111B_HUMAN family with sequence similarity 111, member B 269 catalytic activity p.A273fs*9(1)|p.K272delK(1)|p.A273fs*26(1) endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(13)|liver(1)|lung(12)|ovary(3)|pancreas(1)|skin(1) 40 TGGACATTTCAAAAAAAAAAG 0.313 10 181 --- --- --- --- KDM2A 22992 broad.mit.edu 37 11 67018079 67018081 + In_Frame_Del DEL GAG GAG - TCGA-FB-AAPZ-01A-11D-A40W-08 TCGA-FB-AAPZ-11A-11D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2feaf6e8-f76a-4c02-9536-689e3ad149de 3b27aea6-7bdb-48d4-9fef-c5748fef457d g.chr11:67018079_67018081delGAG ENST00000529006.2 + 17 3024_3026 c.2578_2580delGAG c.(2578-2580)del p.E866del KDM2A_ENST00000398645.2_Intron|KDM2A_ENST00000308783.5_In_Frame_Del_p.E324del|KDM2A_ENST00000530342.1_In_Frame_Del_p.E427del|KDM2A_ENST00000526258.1_3'UTR 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 9 118 --- --- --- --- MRPL48 51642 broad.mit.edu 37 11 73555855 73555857 + In_Frame_Del DEL AAG AAG - TCGA-FB-AAPZ-01A-11D-A40W-08 TCGA-FB-AAPZ-11A-11D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2feaf6e8-f76a-4c02-9536-689e3ad149de 3b27aea6-7bdb-48d4-9fef-c5748fef457d g.chr11:73555855_73555857delAAG ENST00000535529.1 + 6 363_365 c.151_153delAAG c.(151-153)del p.K54del MRPL48_ENST00000411840.2_5'UTR|MRPL48_ENST00000542303.1_Intron|MRPL48_ENST00000310614.7_In_Frame_Del_p.K72del|MRPL48_ENST00000314282.7_5'UTR|MRPL48_ENST00000398483.3_5'UTR Q96GC5 RM48_HUMAN mitochondrial ribosomal protein L48 72 translation mitochondrial ribosome protein binding|structural constituent of ribosome kidney(1) 1 TCTTCAGCCCAAGAAGAAGAAGG 0.305 7 286 --- --- --- --- RP11-551L14.1 0 broad.mit.edu 37 12 31269189 31269190 + RNA INS - - ATCAT rs35880498 TCGA-FB-AAPZ-01A-11D-A40W-08 TCGA-FB-AAPZ-11A-11D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2feaf6e8-f76a-4c02-9536-689e3ad149de 3b27aea6-7bdb-48d4-9fef-c5748fef457d g.chr12:31269189_31269190insATCAT ENST00000542490.1 - 0 165 central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(2)|lung(25)|prostate(3)|stomach(3)|urinary_tract(1) 41 CATGAGAACTCATTACCATGAT 0.351 8 25 --- --- --- --- OR10A7 121364 broad.mit.edu 37 12 55615114 55615116 + In_Frame_Del DEL CTT CTT - TCGA-FB-AAPZ-01A-11D-A40W-08 TCGA-FB-AAPZ-11A-11D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2feaf6e8-f76a-4c02-9536-689e3ad149de 3b27aea6-7bdb-48d4-9fef-c5748fef457d g.chr12:55615114_55615116delCTT ENST00000326258.1 + 1 306_308 c.306_308delCTT c.(304-309)tac>ta p.YF102del NM_001005280.1 NP_001005280.1 Q8NGE5 O10A7_HUMAN olfactory receptor, family 10, subfamily A, member 7 102 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity endometrium(3)|kidney(1)|lung(11)|ovary(4)|prostate(2)|skin(3) 24 CCCAGATGTACTTCTTCTTCTTC 0.414 7 930 --- --- --- --- B4GALNT1 2583 broad.mit.edu 37 12 58025102 58025103 + Frame_Shift_Ins INS - - C TCGA-FB-AAPZ-01A-11D-A40W-08 TCGA-FB-AAPZ-11A-11D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2feaf6e8-f76a-4c02-9536-689e3ad149de 3b27aea6-7bdb-48d4-9fef-c5748fef457d g.chr12:58025102_58025103insC ENST00000341156.4 - 3 847_848 c.263_264insG c.(262-264)gctfs p.A88fs B4GALNT1_ENST00000418555.2_Intron|B4GALNT1_ENST00000550764.1_Frame_Shift_Ins_p.A88fs|B4GALNT1_ENST00000449184.3_Frame_Shift_Ins_p.A88fs|B4GALNT1_ENST00000552350.1_Frame_Shift_Ins_p.A88fs|B4GALNT1_ENST00000550943.1_Intron NM_001478.3 NP_001469.1 Q00973 B4GN1_HUMAN beta-1,4-N-acetyl-galactosaminyl transferase 1 88 lipid glycosylation integral to Golgi membrane|membrane fraction (N-acetylneuraminyl)-galactosylglucosylceramide N-acetylgalactosaminyltransferase activity p.G88fs*24(1) breast(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(4)|lung(6)|prostate(1)|stomach(1)|urinary_tract(1) 20 Melanoma(17;0.122) BRCA - Breast invasive adenocarcinoma(9;0.109) GGAGGGGGAGGCCCCCCCCACT 0.589 7 661 --- --- --- --- CUX2 23316 broad.mit.edu 37 12 111758235 111758237 + In_Frame_Del DEL TCC TCC - TCGA-FB-AAPZ-01A-11D-A40W-08 TCGA-FB-AAPZ-11A-11D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2feaf6e8-f76a-4c02-9536-689e3ad149de 3b27aea6-7bdb-48d4-9fef-c5748fef457d g.chr12:111758235_111758237delTCC ENST00000261726.6 + 17 2576_2578 c.2422_2424delTCC c.(2422-2424)del p.S813del NM_015267.3 NP_056082.2 O14529 CUX2_HUMAN cut-like homeobox 2 813 Poly-Ser. nucleus sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity NS(1)|breast(2)|central_nervous_system(1)|endometrium(2)|large_intestine(9)|lung(24)|ovary(5)|prostate(4)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(2) 55 GCCCTCGCTGTCCTCCTCCTCCT 0.749 12 348 --- --- --- --- POP5 51367 broad.mit.edu 37 12 121017154 121017156 + In_Frame_Del DEL CTC CTC - TCGA-FB-AAPZ-01A-11D-A40W-08 TCGA-FB-AAPZ-11A-11D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2feaf6e8-f76a-4c02-9536-689e3ad149de 3b27aea6-7bdb-48d4-9fef-c5748fef457d g.chr12:121017154_121017156delCTC ENST00000341039.2 - 4 323_325 c.307_309delGAG c.(307-309)del p.E103del POP5_ENST00000542776.1_5'UTR|POP5_ENST00000357500.4_In_Frame_Del_p.E153del NM_198202.1 NP_937845.1 Q969H6 POP5_HUMAN processing of precursor 5, ribonuclease P/MRP subunit (S. cerevisiae) 153 tRNA processing protein binding|ribonuclease P activity breast(1)|endometrium(1)|large_intestine(2)|lung(2)|ovary(1) 7 all_neural(191;0.077)|Medulloblastoma(191;0.0922) CCTCACCTGACTCCTCCTCCTCC 0.517 8 751 --- --- --- --- TPTE2 93492 broad.mit.edu 37 13 20041394 20041394 + Frame_Shift_Del DEL A A - TCGA-FB-AAPZ-01A-11D-A40W-08 TCGA-FB-AAPZ-11A-11D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2feaf6e8-f76a-4c02-9536-689e3ad149de 3b27aea6-7bdb-48d4-9fef-c5748fef457d g.chr13:20041394delA ENST00000400230.2 - 7 527 c.483delT c.(481-483)ttfs p.F161fs TPTE2_ENST00000382977.4_Frame_Shift_Del_p.F161fs|TPTE2_ENST00000382975.4_Intron|TPTE2_ENST00000457266.2_Intron|TPTE2_ENST00000382978.1_Intron|TPTE2_ENST00000390680.2_Intron|TPTE2_ENST00000255310.6_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 10 380 --- --- --- --- ZMYM5 9205 broad.mit.edu 37 13 20426143 20426145 + In_Frame_Del DEL CAT CAT - TCGA-FB-AAPZ-01A-11D-A40W-08 TCGA-FB-AAPZ-11A-11D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2feaf6e8-f76a-4c02-9536-689e3ad149de 3b27aea6-7bdb-48d4-9fef-c5748fef457d g.chr13:20426143_20426145delCAT ENST00000337963.4 - 3 440_442 c.176_178delATG c.(175-180)gtt>g p.DV59del ZMYM5_ENST00000382905.4_In_Frame_Del_p.DV59del|ZMYM5_ENST00000382907.4_In_Frame_Del_p.DV59del NM_001142684.1 NP_001136156.1 Q9UJ78 ZMYM5_HUMAN zinc finger, MYM-type 5 59 Poly-Asp. nucleus zinc ion binding kidney(1)|large_intestine(5)|lung(9) 15 all_cancers(29;2.96e-22)|all_epithelial(30;3.76e-20)|all_lung(29;4.38e-20)|Lung NSC(5;5.8e-17)|Lung SC(185;0.0262)|Ovarian(182;0.162) all cancers(112;1.61e-05)|Epithelial(112;4.89e-05)|OV - Ovarian serous cystadenocarcinoma(117;0.00171)|Lung(94;0.00942)|LUSC - Lung squamous cell carcinoma(192;0.0431) ATAAACACAAcatcatcatcatc 0.379 7 389 --- --- --- --- RNF6 6049 broad.mit.edu 37 13 26788241 26788241 + Frame_Shift_Del DEL A A - TCGA-FB-AAPZ-01A-11D-A40W-08 TCGA-FB-AAPZ-11A-11D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2feaf6e8-f76a-4c02-9536-689e3ad149de 3b27aea6-7bdb-48d4-9fef-c5748fef457d g.chr13:26788241delA ENST00000381588.4 - 5 2530 c.1778delT c.(1777-1779)tafs p.L594fs RNF6_ENST00000468480.1_Intron|RNF6_ENST00000399762.2_Frame_Shift_Del_p.L238fs|RNF6_ENST00000346166.3_Frame_Shift_Del_p.L594fs|RNF6_ENST00000381570.3_Frame_Shift_Del_p.L594fs NM_005977.3 NP_005968.1 Q9Y252 RNF6_HUMAN ring finger protein (C3H2C3 type) 6 594 negative regulation of axon extension|positive regulation of transcription, DNA-dependent|protein K27-linked ubiquitination|protein K48-linked ubiquitination|protein K6-linked ubiquitination|regulation of androgen receptor signaling pathway|ubiquitin-dependent protein catabolic process axon|cytoplasm|PML body androgen receptor binding|ubiquitin-protein ligase activity|zinc ion binding breast(2)|endometrium(2)|kidney(1)|large_intestine(9)|lung(3)|ovary(2)|prostate(2)|skin(2) 23 Colorectal(5;0.000442) Lung SC(185;0.0156)|Breast(139;0.147) all cancers(112;0.00893)|Epithelial(112;0.0481)|OV - Ovarian serous cystadenocarcinoma(117;0.148)|GBM - Glioblastoma multiforme(144;0.23)|Lung(94;0.245) TTCATTTAGTAAAAAAAAGTG 0.403 7 583 --- --- --- --- EBPL 84650 broad.mit.edu 37 13 50235208 50235209 + Frame_Shift_Ins INS - - A TCGA-FB-AAPZ-01A-11D-A40W-08 TCGA-FB-AAPZ-11A-11D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2feaf6e8-f76a-4c02-9536-689e3ad149de 3b27aea6-7bdb-48d4-9fef-c5748fef457d g.chr13:50235208_50235209insA ENST00000242827.6 - 4 566_567 c.516_517insT c.(514-519)ttacggfs p.LR172fs EBPL_ENST00000378284.2_3'UTR|EBPL_ENST00000495963.2_5'UTR|EBPL_ENST00000378272.5_3'UTR|EBPL_ENST00000378270.5_Stop_Codon_Ins NM_032565.3 NP_115954.1 Q9BY08 EBPL_HUMAN emopamil binding protein-like 172 sterol metabolic process endoplasmic reticulum membrane|integral to membrane cholestenol delta-isomerase activity p.F172fs*7(1) endometrium(8)|kidney(6)|lung(3)|ovary(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 21 Lung NSC(96;0.000468)|Breast(56;0.0011)|Prostate(109;0.00243)|Hepatocellular(98;0.0556)|Glioma(44;0.236) GBM - Glioblastoma multiforme(99;2.06e-09) CACACACCGTTAAAAAAAAACA 0.480 10 279 --- --- --- --- FBXL3 26224 broad.mit.edu 37 13 77581683 77581683 + Frame_Shift_Del DEL A A - TCGA-FB-AAPZ-01A-11D-A40W-08 TCGA-FB-AAPZ-11A-11D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2feaf6e8-f76a-4c02-9536-689e3ad149de 3b27aea6-7bdb-48d4-9fef-c5748fef457d g.chr13:77581683delA ENST00000355619.5 - 5 1208 c.884delT c.(883-885)tafs p.L295fs FBXL3_ENST00000477982.1_Intron NM_012158.2 NP_036290.1 Q9UKT7 FBXL3_HUMAN F-box and leucine-rich repeat protein 3 295 regulation of circadian rhythm|rhythmic process|SCF-dependent proteasomal ubiquitin-dependent protein catabolic process cytoplasm|nucleus|SCF ubiquitin ligase complex protein binding|ubiquitin-protein ligase activity p.L295fs*3(1) breast(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(5)|urinary_tract(1) 16 Breast(118;0.212)|Acute lymphoblastic leukemia(28;0.218) GBM - Glioblastoma multiforme(99;0.0521) TTCTTCATATAAAAAAAAATA 0.418 7 325 --- --- --- --- OR4M1 441670 broad.mit.edu 37 14 20248931 20248931 + Frame_Shift_Del DEL G G - TCGA-FB-AAPZ-01A-11D-A40W-08 TCGA-FB-AAPZ-11A-11D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2feaf6e8-f76a-4c02-9536-689e3ad149de 3b27aea6-7bdb-48d4-9fef-c5748fef457d g.chr14:20248931delG ENST00000315957.4 + 1 531 c.450delG c.(448-450)atfs p.M150fs NM_001005500.1 NP_001005500.1 Q8NGD0 OR4M1_HUMAN olfactory receptor, family 4, subfamily M, member 1 150 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity NS(1)|breast(1)|endometrium(1)|large_intestine(4)|lung(32)|prostate(1)|skin(2) 42 all_cancers(95;0.00108) Epithelial(56;9.96e-07)|all cancers(55;2.95e-06) GBM - Glioblastoma multiforme(265;0.00327) TCTCCTGGATGGGGGGCTTCA 0.502 7 1110 --- --- --- --- ESR2 0 broad.mit.edu 37 14 64746715 64746715 + Frame_Shift_Del DEL A A - TCGA-FB-AAPZ-01A-11D-A40W-08 TCGA-FB-AAPZ-11A-11D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2feaf6e8-f76a-4c02-9536-689e3ad149de 3b27aea6-7bdb-48d4-9fef-c5748fef457d g.chr14:64746715delA ENST00000557772.1 - 2 518 c.519delT c.(517-519)ttfs p.F173fs ESR2_ENST00000357782.2_Frame_Shift_Del_p.F173fs|ESR2_ENST00000542956.1_Frame_Shift_Del_p.F173fs|ESR2_ENST00000358599.5_Frame_Shift_Del_p.F173fs|ESR2_ENST00000553796.1_Frame_Shift_Del_p.F173fs|ESR2_ENST00000353772.3_Frame_Shift_Del_p.F173fs|ESR2_ENST00000554572.1_Frame_Shift_Del_p.F173fs|ESR2_ENST00000555278.1_Frame_Shift_Del_p.F173fs|ESR2_ENST00000341099.4_Frame_Shift_Del_p.F173fs|ESR2_ENST00000267525.6_Frame_Shift_Del_p.F173fs|ESR2_ENST00000555483.1_Intron NM_001214903.1 NP_001201832.1 Q92731 ESR2_HUMAN estrogen receptor 2 (ER beta) 173 cell-cell signaling|negative regulation of cell growth|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor mitochondrion|nucleoplasm enzyme binding|estrogen receptor activity|receptor antagonist activity|sequence-specific DNA binding transcription factor activity|steroid binding|transcription coactivator activity|zinc ion binding central_nervous_system(2)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(4)|lung(5)|ovary(1)|prostate(1)|skin(3)|stomach(1)|urinary_tract(1) 23 all cancers(60;0.00916)|OV - Ovarian serous cystadenocarcinoma(108;0.0111)|BRCA - Breast invasive adenocarcinoma(234;0.0437) Bicalutamide(DB01128)|Estradiol(DB00783)|Estramustine(DB01196)|Raloxifene(DB00481)|Tamoxifen(DB00675)|Trilostane(DB01108) TGCTTCTTTTAAAAAAGGCCT 0.413 8 1537 --- --- --- --- CTD-2540L5.5 0 broad.mit.edu 37 14 71067484 71067504 + RNA DEL GGCAGGAGAGAGGCAGGGGGT GGCAGGAGAGAGGCAGGGGGT - TCGA-FB-AAPZ-01A-11D-A40W-08 TCGA-FB-AAPZ-11A-11D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2feaf6e8-f76a-4c02-9536-689e3ad149de 3b27aea6-7bdb-48d4-9fef-c5748fef457d g.chr14:71067484_71067504delGGCAGGAGAGAGGCAGGGGGT ENST00000553982.1 - 0 294 gggcggggcgggcaggagagaggcagggggtggaggtgcgg 0.710 8 6 --- --- --- --- GOLGA8DP 0 broad.mit.edu 37 15 22709778 22709779 + RNA DEL TC TC - TCGA-FB-AAPZ-01A-11D-A40W-08 TCGA-FB-AAPZ-11A-11D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2feaf6e8-f76a-4c02-9536-689e3ad149de 3b27aea6-7bdb-48d4-9fef-c5748fef457d g.chr15:22709778_22709779delTC ENST00000314246.8 - 0 1069 CATGCTACCATCTCTCTCTCTG 0.535 7 612 --- --- --- --- HERC2 8924 broad.mit.edu 37 15 28518115 28518115 + Frame_Shift_Del DEL C C - TCGA-FB-AAPZ-01A-11D-A40W-08 TCGA-FB-AAPZ-11A-11D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2feaf6e8-f76a-4c02-9536-689e3ad149de 3b27aea6-7bdb-48d4-9fef-c5748fef457d g.chr15:28518115delC ENST00000261609.7 - 8 944 c.836delG c.(835-837)gafs p.G279fs NM_004667.5 NP_004658.3 O95714 HERC2_HUMAN HECT and RLD domain containing E3 ubiquitin protein ligase 2 279 DNA repair|intracellular protein transport|protein ubiquitination involved in ubiquitin-dependent protein catabolic process nucleus guanyl-nucleotide exchange factor activity|heme binding|protein binding|ubiquitin-protein ligase activity|zinc ion binding p.G279V(1)|p.G279fs*25(1) NS(1)|autonomic_ganglia(1)|breast(3)|central_nervous_system(3)|cervix(3)|endometrium(20)|kidney(11)|large_intestine(33)|lung(95)|ovary(7)|prostate(8)|skin(7)|upper_aerodigestive_tract(8)|urinary_tract(4) 204 all_lung(180;1.3e-11)|Breast(32;0.000194)|Colorectal(260;0.227) all cancers(64;3.93e-09)|Epithelial(43;9.99e-08)|BRCA - Breast invasive adenocarcinoma(123;0.0271)|GBM - Glioblastoma multiforme(186;0.0497)|Lung(196;0.199) GGGGATGCTTCCTGGCCCTTT 0.592 16 196 --- --- --- --- TMOD3 29766 broad.mit.edu 37 15 52161561 52161562 + Frame_Shift_Ins INS - - A TCGA-FB-AAPZ-01A-11D-A40W-08 TCGA-FB-AAPZ-11A-11D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2feaf6e8-f76a-4c02-9536-689e3ad149de 3b27aea6-7bdb-48d4-9fef-c5748fef457d g.chr15:52161561_52161562insA ENST00000308580.7 + 3 555_556 c.274_275insA c.(274-276)aaafs p.K92fs TMOD3_ENST00000544199.1_Frame_Shift_Ins_p.K92fs NM_014547.4 NP_055362.1 Q9NYL9 TMOD3_HUMAN tropomodulin 3 (ubiquitous) 92 cytoplasm|cytoskeleton actin binding|tropomyosin binding breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(5)|ovary(1)|pancreas(1)|stomach(1) 14 all cancers(107;0.00194) CTACACTGGAGAAAAAAAAGGT 0.391 7 319 --- --- --- --- VPS33B 26276 broad.mit.edu 37 15 91550236 91550238 + In_Frame_Del DEL TCC TCC - rs147271815 TCGA-FB-AAPZ-01A-11D-A40W-08 TCGA-FB-AAPZ-11A-11D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2feaf6e8-f76a-4c02-9536-689e3ad149de 3b27aea6-7bdb-48d4-9fef-c5748fef457d g.chr15:91550236_91550238delTCC ENST00000333371.3 - 9 995_997 c.642_644delGGA c.(640-645)gat>ga p.ED214del VPS33B_ENST00000535843.1_In_Frame_Del_p.ED123del|VPS33B_ENST00000535906.1_In_Frame_Del_p.ED187del NM_018668.3 NP_061138.3 Q9H267 VP33B_HUMAN vacuolar protein sorting 33 homolog B (yeast) 214 cellular membrane fusion|lysosome localization|melanosome localization|platelet alpha granule organization|protein transport|vesicle docking involved in exocytosis late endosome membrane|lysosomal membrane|perinuclear region of cytoplasm|platelet alpha granule protein binding central_nervous_system(1)|endometrium(2)|large_intestine(2)|lung(5)|ovary(2)|prostate(2)|stomach(2) 16 Lung NSC(78;0.0987)|all_lung(78;0.175) GGTTTCGCCATCCTCCTCCTCCT 0.522 7 559 --- --- --- --- RP11-266O8.1 0 broad.mit.edu 37 15 93974510 93974510 + RNA DEL C C - rs57286078 TCGA-FB-AAPZ-01A-11D-A40W-08 TCGA-FB-AAPZ-11A-11D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2feaf6e8-f76a-4c02-9536-689e3ad149de 3b27aea6-7bdb-48d4-9fef-c5748fef457d g.chr15:93974510delC ENST00000543286.1 + 0 545 TGGCTGGGTTCtttttttttt 0.433 8 85 --- --- --- --- NPIPA5 100288332 broad.mit.edu 37 16 15457565 15457566 + Frame_Shift_Del DEL AC AC - TCGA-FB-AAPZ-01A-11D-A40W-08 TCGA-FB-AAPZ-11A-11D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2feaf6e8-f76a-4c02-9536-689e3ad149de 3b27aea6-7bdb-48d4-9fef-c5748fef457d g.chr16:15457565_15457566delAC ENST00000360151.4 - 8 1002_1003 c.1003_1004delGT c.(1003-1005)cfs p.V335fs NM_001277325.1 NP_001264254.1 nuclear pore complex interacting protein family, member A5 GAGTGAGCAGACACACTCGGGA 0.446 7 371 --- --- --- --- SLFN12 55106 broad.mit.edu 37 17 33749493 33749493 + Frame_Shift_Del DEL A A - TCGA-FB-AAPZ-01A-11D-A40W-08 TCGA-FB-AAPZ-11A-11D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2feaf6e8-f76a-4c02-9536-689e3ad149de 3b27aea6-7bdb-48d4-9fef-c5748fef457d g.chr17:33749493delA ENST00000394562.1 - 4 1078 c.555delT c.(553-555)ttfs p.F185fs SLFN12_ENST00000452764.3_Frame_Shift_Del_p.F185fs|SLFN12_ENST00000304905.5_Frame_Shift_Del_p.F185fs Q8IYM2 SLN12_HUMAN schlafen family member 12 185 ATP binding breast(1)|kidney(2)|large_intestine(3)|lung(8)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1) 18 Ovarian(249;0.17) UCEC - Uterine corpus endometrioid carcinoma (308;0.0182) CTGTTCTATCAAAAAAAACCC 0.368 7 410 --- --- --- --- RP11-115K3.2 0 broad.mit.edu 37 17 36214141 36214141 + RNA DEL A A - rs76035088 TCGA-FB-AAPZ-01A-11D-A40W-08 TCGA-FB-AAPZ-11A-11D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2feaf6e8-f76a-4c02-9536-689e3ad149de 3b27aea6-7bdb-48d4-9fef-c5748fef457d g.chr17:36214141delA ENST00000590732.1 - 0 325 NR_024178.1 CAGCaaaattaaaaaaaaaaa 0.328 7 96 --- --- --- --- VEZF1 7716 broad.mit.edu 37 17 56056605 56056607 + In_Frame_Del DEL TGC TGC - rs61731354 byFrequency TCGA-FB-AAPZ-01A-11D-A40W-08 TCGA-FB-AAPZ-11A-11D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2feaf6e8-f76a-4c02-9536-689e3ad149de 3b27aea6-7bdb-48d4-9fef-c5748fef457d 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 8 942 --- --- --- --- SRP68 6730 broad.mit.edu 37 17 74068528 74068530 + In_Frame_Del DEL GCC GCC - TCGA-FB-AAPZ-01A-11D-A40W-08 TCGA-FB-AAPZ-11A-11D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2feaf6e8-f76a-4c02-9536-689e3ad149de 3b27aea6-7bdb-48d4-9fef-c5748fef457d g.chr17:74068528_74068530delGCC ENST00000307877.2 - 1 204_206 c.43_45delGGC c.(43-45)del p.G15del SRP68_ENST00000539137.1_In_Frame_Del_p.G15del|SRP68_ENST00000355113.5_5'UTR NM_014230.3 NP_055045.2 Q9UHB9 SRP68_HUMAN signal recognition particle 68kDa 15 Poly-Gly. Missing (in Ref. 1). response to drug cytosol|endoplasmic reticulum|nucleolus|ribosome|signal recognition particle, endoplasmic reticulum targeting RNA binding|signal recognition particle binding NS(1)|cervix(1)|endometrium(3)|kidney(4)|large_intestine(5)|lung(4)|ovary(2)|prostate(3) 23 cgccgccactgccgccgccgccg 0.709 8 318 --- --- --- --- MYOM1 8736 broad.mit.edu 37 18 3086037 3086046 + Splice_Site DEL TCTGTTATAA TCTGTTATAA - rs146346828 by1000genomes TCGA-FB-AAPZ-01A-11D-A40W-08 TCGA-FB-AAPZ-11A-11D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2feaf6e8-f76a-4c02-9536-689e3ad149de 3b27aea6-7bdb-48d4-9fef-c5748fef457d g.chr18:3086037_3086046delTCTGTTATAA ENST00000400569.3 - 30 4574_4583 c.4251_splice c.e30+1 p.LITE1414_splice MYOM1_ENST00000356443.4_Splice_Site_p.LITE1414_splice|MYOM1_ENST00000261606.7_Splice_Site_p.LITE1318_splice P52179 MYOM1_HUMAN myomesin 1 1414 Ig-like C2-type 4. striated muscle myosin thick filament structural constituent of muscle NS(2)|autonomic_ganglia(1)|central_nervous_system(2)|endometrium(15)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(15)|lung(20)|ovary(4)|pancreas(1)|prostate(4)|skin(1)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1) 77 ATCGCCTACCTCTGTTATAAGCAGGGTACA 0.371 31 248 --- --- --- --- FHOD3 80206 broad.mit.edu 37 18 34261459 34261460 + Frame_Shift_Del DEL AG AG - TCGA-FB-AAPZ-01A-11D-A40W-08 TCGA-FB-AAPZ-11A-11D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2feaf6e8-f76a-4c02-9536-689e3ad149de 3b27aea6-7bdb-48d4-9fef-c5748fef457d g.chr18:34261459_34261460delAG ENST00000257209.4 + 12 1493_1494 c.1371_1372delAG c.(1369-1374)gcagfs p.AE457fs FHOD3_ENST00000445677.1_Frame_Shift_Del_p.AE419fs|FHOD3_ENST00000590592.1_Frame_Shift_Del_p.AE632fs|FHOD3_ENST00000359247.4_Frame_Shift_Del_p.AE457fs|FHOD3_ENST00000591635.1_Intron NM_025135.2 NP_079411.2 Q2V2M9 FHOD3_HUMAN formin homology 2 domain containing 3 457 actin cytoskeleton organization cytoplasm|cytoskeleton actin binding NS(1)|breast(5)|central_nervous_system(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(25)|liver(2)|lung(29)|ovary(3)|prostate(4)|skin(5)|upper_aerodigestive_tract(1) 90 all_epithelial(2;0.0181)|Colorectal(2;0.0195) CACTGGCAGCAGAGAGAGAGAG 0.460 12 219 --- --- --- --- ZNF443 10224 broad.mit.edu 37 19 12542364 12542364 + Frame_Shift_Del DEL A A - TCGA-FB-AAPZ-01A-11D-A40W-08 TCGA-FB-AAPZ-11A-11D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2feaf6e8-f76a-4c02-9536-689e3ad149de 3b27aea6-7bdb-48d4-9fef-c5748fef457d g.chr19:12542364delA ENST00000301547.5 - 4 819 c.622delT c.(622-624)ggfs p.W208fs CTD-3105H18.16_ENST00000595562.1_Intron NM_005815.4 NP_005806.2 Q9Y2A4 ZN443_HUMAN zinc finger protein 443 208 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 AAACTGGGCCAAAAAAACGCT 0.408 8 909 --- --- --- --- HAMP 57817 broad.mit.edu 37 19 35773520 35773522 + In_Frame_Del DEL CTC CTC - TCGA-FB-AAPZ-01A-11D-A40W-08 TCGA-FB-AAPZ-11A-11D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2feaf6e8-f76a-4c02-9536-689e3ad149de 3b27aea6-7bdb-48d4-9fef-c5748fef457d g.chr19:35773520_35773522delCTC ENST00000598398.1 + 2 336_338 c.40_42delCTC c.(40-42)del p.L18del HAMP_ENST00000222304.3_In_Frame_Del_p.L18del NM_021175.2 NP_066998.1 P81172 HEPC_HUMAN hepcidin antimicrobial peptide 18 defense response to bacterium|defense response to fungus|immune response|killing of cells of other organism extracellular region hormone activity breast(1)|central_nervous_system(1)|large_intestine(1)|lung(1) 4 all_lung(56;2.37e-08)|Lung NSC(56;3.66e-08)|Esophageal squamous(110;0.162) Epithelial(14;7.4e-20)|OV - Ovarian serous cystadenocarcinoma(14;6.47e-19)|all cancers(14;4.17e-17)|LUSC - Lung squamous cell carcinoma(66;0.0417) TTGCCTCCTGCTCCTCCTCCTCC 0.640 10 1067 --- --- --- --- FFAR2 2867 broad.mit.edu 37 19 35940788 35940790 + In_Frame_Del DEL CTG CTG - TCGA-FB-AAPZ-01A-11D-A40W-08 TCGA-FB-AAPZ-11A-11D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2feaf6e8-f76a-4c02-9536-689e3ad149de 3b27aea6-7bdb-48d4-9fef-c5748fef457d g.chr19:35940788_35940790delCTG ENST00000599180.1 + 2 252_254 c.172_174delCTG c.(172-174)del p.L62del FFAR2_ENST00000601590.1_Intron|FFAR2_ENST00000246549.2_In_Frame_Del_p.L62del 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 8 255 --- --- --- --- ATP4A 495 broad.mit.edu 37 19 36054349 36054351 + In_Frame_Del DEL CTT CTT - TCGA-FB-AAPZ-01A-11D-A40W-08 TCGA-FB-AAPZ-11A-11D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2feaf6e8-f76a-4c02-9536-689e3ad149de 3b27aea6-7bdb-48d4-9fef-c5748fef457d g.chr19:36054349_36054351delCTT ENST00000262623.3 - 2 119_121 c.91_93delAAG c.(91-93)del p.K31del NM_000704.2 NP_000695.2 P20648 ATP4A_HUMAN ATPase, H+/K+ exchanging, alpha polypeptide 31 ATP biosynthetic process|ATP hydrolysis coupled proton transport integral to plasma membrane ATP binding|hydrogen:potassium-exchanging ATPase activity|magnesium ion binding breast(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(12)|lung(26)|ovary(2)|prostate(2)|upper_aerodigestive_tract(1) 53 all_lung(56;1.05e-07)|Lung NSC(56;1.63e-07)|Esophageal squamous(110;0.162) LUSC - Lung squamous cell carcinoma(66;0.0724) Esomeprazole(DB00736)|Lansoprazole(DB00448)|Omeprazole(DB00338)|Pantoprazole(DB00213)|Rabeprazole(DB01129)|Trifluoperazine(DB00831) CGCCACCCGCCTTCTTCTTCTTG 0.601 7 1474 --- --- --- --- WDR62 284403 broad.mit.edu 37 19 36583666 36583668 + In_Frame_Del DEL GCA GCA - TCGA-FB-AAPZ-01A-11D-A40W-08 TCGA-FB-AAPZ-11A-11D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2feaf6e8-f76a-4c02-9536-689e3ad149de 3b27aea6-7bdb-48d4-9fef-c5748fef457d g.chr19:36583666_36583668delGCA ENST00000401500.2 + 19 2321_2323 c.2286_2288delGCA c.(2284-2289)cgg>cg p.RQ762del WDR62_ENST00000270301.7_In_Frame_Del_p.RQ762del NM_001083961.1|NM_173636.4 NP_001077430.1|NP_775907.4 O43379 WDR62_HUMAN WD repeat domain 62 762 cerebral cortex development nucleus cervix(1)|endometrium(8)|kidney(2)|large_intestine(8)|lung(15)|prostate(4)|stomach(2)|urinary_tract(3) 43 Esophageal squamous(110;0.162) LUSC - Lung squamous cell carcinoma(66;0.06) TTGACCACCGGCAGCAGCAGCAG 0.616 9 830 --- --- --- --- SPRED3 399473 broad.mit.edu 37 19 38882864 38882866 + In_Frame_Del DEL CCT CCT - TCGA-FB-AAPZ-01A-11D-A40W-08 TCGA-FB-AAPZ-11A-11D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2feaf6e8-f76a-4c02-9536-689e3ad149de 3b27aea6-7bdb-48d4-9fef-c5748fef457d g.chr19:38882864_38882866delCCT ENST00000587013.1 + 3 569_571 c.491_493delCCT c.(490-495)ccc>c p.PS164del SPRED3_ENST00000586301.1_In_Frame_Del_p.PS120del|SPRED3_ENST00000587564.2_3'UTR|SPRED3_ENST00000338502.4_In_Frame_Del_p.PS120del Q2MJR0 SPRE3_HUMAN sprouty-related, EVH1 domain containing 3 120 multicellular organismal development central_nervous_system(2)|large_intestine(1)|lung(5)|skin(1) 9 all_cancers(60;3.4e-06) Lung(45;0.00172)|LUSC - Lung squamous cell carcinoma(53;0.00272) TCACTCAccccctcctcctcctc 0.645 7 126 --- --- --- --- PRX 57716 broad.mit.edu 37 19 40900180 40900182 + In_Frame_Del DEL TCC TCC - TCGA-FB-AAPZ-01A-11D-A40W-08 TCGA-FB-AAPZ-11A-11D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2feaf6e8-f76a-4c02-9536-689e3ad149de 3b27aea6-7bdb-48d4-9fef-c5748fef457d g.chr19:40900180_40900182delTCC ENST00000324001.7 - 7 4347_4349 c.4077_4079delGGA c.(4075-4080)gaa>ga p.EE1359del PRX_ENST00000291825.7_3'UTR NM_181882.2 NP_870998.2 Q9BXM0 PRAX_HUMAN periaxin 1359 Poly-Glu. Missing. axon ensheathment cytoplasm|nucleus|plasma membrane protein binding breast(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(7)|lung(12)|ovary(2)|prostate(3)|skin(1)|urinary_tract(9) 47 Lung(22;6.24e-05)|LUSC - Lung squamous cell carcinoma(20;0.000384) ACTGCcctcttcctcctcctcct 0.695 7 130 --- --- --- --- FLT3LG 0 broad.mit.edu 37 19 49978960 49978962 + In_Frame_Del DEL CTG CTG - TCGA-FB-AAPZ-01A-11D-A40W-08 TCGA-FB-AAPZ-11A-11D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2feaf6e8-f76a-4c02-9536-689e3ad149de 3b27aea6-7bdb-48d4-9fef-c5748fef457d g.chr19:49978960_49978962delCTG ENST00000594009.1 + 2 125_127 c.46_48delCTG c.(46-48)del p.L20del FLT3LG_ENST00000597551.1_In_Frame_Del_p.L20del|FLT3LG_ENST00000596435.1_In_Frame_Del_p.L20del|FLT3LG_ENST00000595510.1_5'UTR|FLT3LG_ENST00000600429.1_In_Frame_Del_p.L20del|CTD-3148I10.9_ENST00000599536.1_Intron|FLT3LG_ENST00000204637.2_5'UTR|FLT3LG_ENST00000344019.3_In_Frame_Del_p.L20del|FLT3LG_ENST00000595815.1_3'UTR NM_001204503.1 NP_001191432.1 P49771 FLT3L_HUMAN fms-related tyrosine kinase 3 ligand 20 positive regulation of cell proliferation|signal transduction extracellular space|integral to membrane|plasma membrane|soluble fraction cytokine activity large_intestine(2)|lung(3)|skin(2)|stomach(1)|upper_aerodigestive_tract(2) 10 all_lung(116;1.62e-07)|Lung NSC(112;8.47e-07)|all_neural(266;0.0381)|Ovarian(192;0.0392) OV - Ovarian serous cystadenocarcinoma(262;0.00154)|GBM - Glioblastoma multiforme(486;0.0246) CTATCTCCTCCTGCTGCTGCTGC 0.621 9 444 --- --- --- --- TMC4 147798 broad.mit.edu 37 19 54675747 54675749 + In_Frame_Del DEL TCC TCC - TCGA-FB-AAPZ-01A-11D-A40W-08 TCGA-FB-AAPZ-11A-11D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2feaf6e8-f76a-4c02-9536-689e3ad149de 3b27aea6-7bdb-48d4-9fef-c5748fef457d g.chr19:54675747_54675749delTCC ENST00000376591.4 - 2 332_334 c.201_203delGGA c.(199-204)gat>ga p.ED67del TMC4_ENST00000301187.4_In_Frame_Del_p.ED61del NM_001145303.1|NM_144686.2 NP_001138775.1|NP_653287.1 Q7Z404 TMC4_HUMAN transmembrane channel-like 4 67 Poly-Glu. integral to membrane breast(2)|endometrium(7)|large_intestine(4)|lung(6)|pancreas(1)|skin(1)|urinary_tract(1) 22 all_cancers(19;0.0065)|all_epithelial(19;0.00348)|all_lung(19;0.0175)|Lung NSC(19;0.0325)|Ovarian(34;0.19) CCTTCCTCCATCCTCCTCCTCCT 0.645 14 479 --- --- --- --- KIR2DL4 0 broad.mit.edu 37 19 55324675 55324675 + Frame_Shift_Del DEL A A - rs148484482 TCGA-FB-AAPZ-01A-11D-A40W-08 TCGA-FB-AAPZ-11A-11D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2feaf6e8-f76a-4c02-9536-689e3ad149de 3b27aea6-7bdb-48d4-9fef-c5748fef457d g.chr19:55324675delA ENST00000396284.2 + 6 796 c.796delA c.(796-798)aafs p.K268fs KIR2DL4_ENST00000346587.4_Intron|KIR2DL4_ENST00000345540.5_Intron|KIR2DL4_ENST00000463062.1_3'UTR|KIR2DL4_ENST00000357494.4_Intron|KIR3DL1_ENST00000541392.1_Intron|KIR3DL1_ENST00000538269.1_Intron|KIR2DL4_ENST00000396293.1_Intron|KIR3DL1_ENST00000402254.2_Intron|KIR2DL4_ENST00000359085.4_Frame_Shift_Del_p.K270fs killer cell immunoglobulin-like receptor, two domains, long cytoplasmic tail, 4 p.M271fs*>3(1) NS(1)|breast(2)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|liver(2)|lung(2)|ovary(2)|prostate(3)|skin(1) 17 GBM - Glioblastoma multiforme(193;0.0192) CTGGTGCTCCAAAAAAAAAGT 0.532 11 327 --- --- --- --- GZF1 64412 broad.mit.edu 37 20 23345921 23345923 + In_Frame_Del DEL GAG GAG - TCGA-FB-AAPZ-01A-11D-A40W-08 TCGA-FB-AAPZ-11A-11D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2feaf6e8-f76a-4c02-9536-689e3ad149de 3b27aea6-7bdb-48d4-9fef-c5748fef457d g.chr20:23345921_23345923delGAG ENST00000338121.5 + 2 978_980 c.901_903delGAG c.(901-903)del p.E306del GZF1_ENST00000544236.1_Intron|GZF1_ENST00000542987.1_Intron|GZF1_ENST00000461789.1_3'UTR|GZF1_ENST00000377051.2_In_Frame_Del_p.E306del Q9H116 GZF1_HUMAN GDNF-inducible zinc finger protein 1 306 transcription, DNA-dependent nucleolus|nucleoplasm sequence-specific DNA binding|zinc ion binding endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(5)|lung(7)|prostate(1)|urinary_tract(2) 24 Lung NSC(19;0.0605)|Colorectal(13;0.0993)|all_lung(19;0.135) ggaggaggaagaggaggaggagg 0.532 10 393 --- --- --- --- AC008103.5 0 broad.mit.edu 37 22 18842473 18842473 + RNA DEL G G - rs66618606 TCGA-FB-AAPZ-01A-11D-A40W-08 TCGA-FB-AAPZ-11A-11D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2feaf6e8-f76a-4c02-9536-689e3ad149de 3b27aea6-7bdb-48d4-9fef-c5748fef457d g.chr22:18842473delG ENST00000412938.1 + 0 2208 AGCTGCTGGTGGGGAGGTCTT 0.647 11 16 --- --- --- --- PHF8 23133 broad.mit.edu 37 X 54011405 54011407 + In_Frame_Del DEL CTC CTC - TCGA-FB-AAPZ-01A-11D-A40W-08 TCGA-FB-AAPZ-11A-11D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2feaf6e8-f76a-4c02-9536-689e3ad149de 3b27aea6-7bdb-48d4-9fef-c5748fef457d g.chrX:54011405_54011407delCTC ENST00000338154.6 - 18 2887_2889 c.2383_2385delGAG c.(2383-2385)del p.E795del PHF8_ENST00000322659.8_In_Frame_Del_p.E778del|PHF8_ENST00000357988.5_In_Frame_Del_p.E831del|PHF8_ENST00000338946.6_In_Frame_Del_p.E694del NM_015107.2 NP_055922.1 Q9UPP1 PHF8_HUMAN PHD finger protein 8 831 Ser-rich. brain development|G1/S transition of mitotic cell cycle|negative regulation of chromatin silencing at rDNA|positive regulation of transcription from RNA polymerase I promoter|transcription, DNA-dependent nucleolus chromatin binding|histone demethylase activity (H3-K27 specific)|histone demethylase activity (H3-K36 specific)|histone demethylase activity (H3-K9 specific)|histone demethylase activity (H4-K20 specific)|iron ion binding|methylated histone residue binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|zinc ion binding endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(7)|lung(10)|ovary(4)|pancreas(1)|skin(2)|upper_aerodigestive_tract(1) 40 GACTGGCGTTCTCCTCCTCCTCC 0.591 9 462 --- --- --- --- CUL4B 8450 broad.mit.edu 37 X 119694117 119694119 + In_Frame_Del DEL GAG GAG - TCGA-FB-AAPZ-01A-11D-A40W-08 TCGA-FB-AAPZ-11A-11D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2feaf6e8-f76a-4c02-9536-689e3ad149de 3b27aea6-7bdb-48d4-9fef-c5748fef457d g.chrX:119694117_119694119delGAG ENST00000371322.5 - 1 436_438 c.375_377delCTC c.(373-378)tca>tc p.SS127del CUL4B_ENST00000336592.6_In_Frame_Del_p.SS132del|CUL4B_ENST00000404115.3_In_Frame_Del_p.SS145del NM_001079872.1 NP_001073341.1 Q13620 CUL4B_HUMAN cullin 4B 145 Ser-rich. cell cycle|DNA repair|ubiquitin-dependent protein catabolic process Cul4B-RING ubiquitin ligase complex|nucleus protein binding|ubiquitin protein ligase binding NS(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(7)|lung(14)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 36 TGGTGAAGATgaggaggaggagg 0.488 8 215 --- --- --- ---