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 USP28 57646 broad.mit.edu 37 11 113670032 113670032 + Missense_Mutation SNP T T C TCGA-IQ-A6SG-01A-12D-A34J-08 TCGA-IQ-A6SG-10A-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 09d1b40f-c5c2-49e7-bc2a-8a076ba59658 7f6c4b53-f204-4f74-a112-83d89e542313 g.chr11:113670032T>C ENST00000003302.4 - 25 3232 c.3164A>G c.(3163-3165)tAt>tGt p.Y1055C USP28_ENST00000260188.5_Missense_Mutation_p.Y1023C|USP28_ENST00000545540.1_Missense_Mutation_p.Y898C|USP28_ENST00000544967.1_Missense_Mutation_p.Y731C NM_020886.2 NP_065937.1 Q96RU2 UBP28_HUMAN ubiquitin specific peptidase 28 1055 cell proliferation|DNA damage checkpoint|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|DNA repair|protein deubiquitination|response to ionizing radiation|ubiquitin-dependent protein catabolic process nucleolus|nucleoplasm protein binding|ubiquitin thiolesterase activity|ubiquitin-specific protease activity breast(4)|cervix(1)|endometrium(2)|kidney(3)|large_intestine(12)|lung(24)|ovary(1)|prostate(5)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1) 59 all_cancers(61;3.74e-18)|all_epithelial(67;3.75e-11)|Melanoma(852;1.46e-05)|all_hematologic(158;4.65e-05)|Acute lymphoblastic leukemia(157;0.000967)|Breast(348;0.0101)|Prostate(24;0.0153)|all_neural(223;0.0281)|Medulloblastoma(222;0.0425) BRCA - Breast invasive adenocarcinoma(274;3.93e-06)|Epithelial(105;0.000122)|all cancers(92;0.00104) ACATAGGTCATAGGGAGAATT 0.473000 67 76 0 0 1 0 0 DLG2 1740 broad.mit.edu 37 11 84028117 84028117 + Silent SNP C C A rs45482499 TCGA-IQ-A6SG-01A-12D-A34J-08 TCGA-IQ-A6SG-10A-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 09d1b40f-c5c2-49e7-bc2a-8a076ba59658 7f6c4b53-f204-4f74-a112-83d89e542313 g.chr11:84028117C>A ENST00000280241.8 - 1 71 c.72G>T c.(70-72)gcG>gcT p.A24A DLG2_ENST00000398301.2_Silent_p.A24A|DLG2_ENST00000398309.2_Intron|DLG2_ENST00000543673.1_Intron|DLG2_ENST00000376104.2_Intron|DLG2_ENST00000532653.1_Intron|DLG2_ENST00000524982.1_Intron NM_001206769.1 NP_001193698.1 Q15700 DLG2_HUMAN discs, large homolog 2 (Drosophila) 0 cell junction|postsynaptic density|postsynaptic membrane guanylate kinase activity|protein binding breast(1)|central_nervous_system(1)|endometrium(8)|kidney(3)|large_intestine(11)|lung(35)|ovary(3)|pancreas(2)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(1) 71 all_cancers(6;0.00791)|Acute lymphoblastic leukemia(157;4.44e-05)|all_hematologic(158;0.0036) TCAGGGTGGGCGCACTCCTGA 0.597000 106 157 9.16818e-52 1.17387e-51 1 1 0 AKR1C2 1646 broad.mit.edu 37 10 5042613 5042613 + Missense_Mutation SNP G G A TCGA-IQ-A6SG-01A-12D-A34J-08 TCGA-IQ-A6SG-10A-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 09d1b40f-c5c2-49e7-bc2a-8a076ba59658 7f6c4b53-f204-4f74-a112-83d89e542313 g.chr10:5042613G>A ENST00000455190.1 - 4 434 c.409C>T c.(409-411)Cat>Tat p.H137Y AKR1C2_ENST00000380753.4_Intron|AKR1C2_ENST00000407674.1_Intron|AKR1C2_ENST00000421196.3_Intron NM_001135241.2 NP_001128713.1 P52895 AK1C2_HUMAN aldo-keto reductase family 1, member C2 0 digestion|prostaglandin metabolic process|steroid metabolic process cytoplasm androsterone dehydrogenase (A-specific) activity|bile acid binding|trans-1,2-dihydrobenzene-1,2-diol dehydrogenase activity breast(1)|large_intestine(5)|lung(3)|skin(1) 10 NADH(DB00157)|Ursodeoxycholic acid(DB01586) TAGGAGTTATGTTTAGGGCTC 0.363000 9 26 0 0 1 0 0 NELL1 4745 broad.mit.edu 37 11 21556011 21556011 + Silent SNP C C T rs147459765 byFrequency TCGA-IQ-A6SG-01A-12D-A34J-08 TCGA-IQ-A6SG-10A-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 09d1b40f-c5c2-49e7-bc2a-8a076ba59658 7f6c4b53-f204-4f74-a112-83d89e542313 g.chr11:21556011C>T ENST00000298925.5 + 17 1974 c.1821C>T c.(1819-1821)agC>agT p.S607S NELL1_ENST00000529218.1_3'UTR|NELL1_ENST00000532434.1_Intron|NELL1_ENST00000325319.5_Silent_p.S522S|NELL1_ENST00000357134.5_Silent_p.S579S Q92832 NELL1_HUMAN NEL-like 1 (chicken) 579 EGF-like 6; calcium-binding (Potential). cell adhesion|nervous system development extracellular region calcium ion binding|structural molecule activity NS(1)|breast(3)|endometrium(5)|kidney(3)|large_intestine(15)|lung(36)|ovary(2)|prostate(3)|skin(1)|urinary_tract(1) 70 AGTGCAGAAGCGGTTTCCATG 0.527000 46 73 0 0 1 0 0 COL4A6 1288 broad.mit.edu 37 X 107449790 107449790 + Silent SNP T T A TCGA-IQ-A6SG-01A-12D-A34J-08 TCGA-IQ-A6SG-10A-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 09d1b40f-c5c2-49e7-bc2a-8a076ba59658 7f6c4b53-f204-4f74-a112-83d89e542313 g.chrX:107449790T>A ENST00000334504.7 - 9 800 c.567A>T c.(565-567)ggA>ggT p.G189G COL4A6_ENST00000545689.1_Silent_p.G189G|COL4A6_ENST00000538570.1_Silent_p.G189G|COL4A6_ENST00000394872.2_Silent_p.G186G|COL4A6_ENST00000372216.4_Silent_p.G190G NM_033641.2 NP_378667.1 Q14031 CO4A6_HUMAN collagen, type IV, alpha 6 190 Triple-helical region. cell adhesion|extracellular matrix organization collagen type IV extracellular matrix structural constituent|protein binding breast(2)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(20)|lung(41)|ovary(7)|prostate(1)|skin(1)|stomach(1)|urinary_tract(2) 92 CTCCAGGAAATCCGGGTGCTC 0.438000 Alport syndrome with Diffuse Leiomyomatosis 17 79 0 0 1 0 0 MUC5B 727897 broad.mit.edu 37 11 1263956 1263956 + Missense_Mutation SNP C C A TCGA-IQ-A6SG-01A-12D-A34J-08 TCGA-IQ-A6SG-10A-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 09d1b40f-c5c2-49e7-bc2a-8a076ba59658 7f6c4b53-f204-4f74-a112-83d89e542313 g.chr11:1263956C>A ENST00000447027.1 + 31 5913 c.5855C>A c.(5854-5856)aCc>aAc p.T1952N RP11-532E4.2_ENST00000532061.2_RNA|MUC5B_ENST00000529681.1_Missense_Mutation_p.T1949N Q9HC84 MUC5B_HUMAN mucin 5B, oligomeric mucus/gel-forming 1949 11 X approximate tandem repeats, Ser/Thr- rich.|7 X Cys-rich subdomain repeats.|Thr-rich. 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) CCCACAGTCACCAGCTCCAAA 0.637000 20 207 1.33834e-09 1.49067e-09 1 1 0 SLC24A4 123041 broad.mit.edu 37 14 92922825 92922825 + Silent SNP C C T TCGA-IQ-A6SG-01A-12D-A34J-08 TCGA-IQ-A6SG-10A-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 09d1b40f-c5c2-49e7-bc2a-8a076ba59658 7f6c4b53-f204-4f74-a112-83d89e542313 g.chr14:92922825C>T ENST00000532405.1 + 12 1354 c.1128C>T c.(1126-1128)aaC>aaT p.N376N SLC24A4_ENST00000298877.1_Silent_p.N359N|SLC24A4_ENST00000556739.1_3'UTR|SLC24A4_ENST00000351924.5_Silent_p.N340N|SLC24A4_ENST00000531433.1_Silent_p.N357N|SLC24A4_ENST00000393265.2_Silent_p.N312N Q8NFF2 NCKX4_HUMAN solute carrier family 24 (sodium/potassium/calcium exchanger), member 4 376 integral to membrane|plasma membrane calcium, potassium:sodium antiporter activity|symporter activity breast(3)|endometrium(2)|kidney(2)|large_intestine(6)|lung(20)|ovary(2)|skin(1) 36 all_cancers(154;0.0347)|all_epithelial(191;0.163) Colorectal(1;0.00242)|COAD - Colon adenocarcinoma(157;0.047)|Epithelial(152;0.0781)|READ - Rectum adenocarcinoma(1;0.176)|all cancers(159;0.182) ACATTGAGAACGGGAATGTTC 0.597000 OREG0022876 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 29 50 0 0 1 0 0 LAMB4 22798 broad.mit.edu 37 7 107669625 107669625 + Missense_Mutation SNP T T C TCGA-IQ-A6SG-01A-12D-A34J-08 TCGA-IQ-A6SG-10A-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 09d1b40f-c5c2-49e7-bc2a-8a076ba59658 7f6c4b53-f204-4f74-a112-83d89e542313 g.chr7:107669625T>C ENST00000388781.3 - 33 5092 c.5009A>G c.(5008-5010)aAa>aGa p.K1670R LAMB4_ENST00000388780.3_Missense_Mutation_p.K1670R|LAMB4_ENST00000205386.4_Missense_Mutation_p.K1670R|LAMB4_ENST00000483484.1_5'UTR NM_007356.2 NP_031382.2 A4D0S4 LAMB4_HUMAN laminin, beta 4 1670 Domain I. cell adhesion basement membrane NS(1)|breast(5)|endometrium(8)|haematopoietic_and_lymphoid_tissue(3)|kidney(5)|large_intestine(22)|lung(40)|ovary(4)|prostate(5)|skin(4) 97 ATATTGTTTTTTCAGCTCAAC 0.343000 21 126 0 0 1 0 0 ARID4A 5926 broad.mit.edu 37 14 58817876 58817876 + Missense_Mutation SNP A A G TCGA-IQ-A6SG-01A-12D-A34J-08 TCGA-IQ-A6SG-10A-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 09d1b40f-c5c2-49e7-bc2a-8a076ba59658 7f6c4b53-f204-4f74-a112-83d89e542313 g.chr14:58817876A>G ENST00000355431.3 + 16 1863 c.1490A>G c.(1489-1491)gAt>gGt p.D497G ARID4A_ENST00000431317.2_Missense_Mutation_p.D497G|ARID4A_ENST00000395168.3_Missense_Mutation_p.D497G|ARID4A_ENST00000348476.3_Missense_Mutation_p.D497G NM_002892.3 NP_002883.3 P29374 ARI4A_HUMAN AT rich interactive domain 4A (RBP1-like) 497 negative regulation of transcription, DNA-dependent|transcription from RNA polymerase II promoter transcriptional repressor complex DNA binding|sequence-specific DNA binding transcription factor activity NS(1)|breast(2)|central_nervous_system(1)|cervix(4)|endometrium(8)|kidney(2)|large_intestine(14)|lung(19)|ovary(3)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1) 60 AAAGATAATGATACAGAAAAT 0.333000 21 60 0 0 1 0 0 PHOX2B 8929 broad.mit.edu 37 4 41750617 41750617 + Missense_Mutation SNP A A C TCGA-IQ-A6SG-01A-12D-A34J-08 TCGA-IQ-A6SG-10A-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 09d1b40f-c5c2-49e7-bc2a-8a076ba59658 7f6c4b53-f204-4f74-a112-83d89e542313 g.chr4:41750617A>C ENST00000226382.2 - 1 370 c.11T>G c.(10-12)aTg>aGg p.M4R RP11-227F19.1_ENST00000508038.1_RNA NM_003924.3 NP_003915.2 Q99453 PHX2B_HUMAN paired-like homeobox 2b 4 positive regulation of transcription from RNA polymerase II promoter nuclear chromatin RNA polymerase II regulatory region sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription cofactor activity autonomic_ganglia(7)|central_nervous_system(1)|endometrium(2)|large_intestine(5)|lung(11)|ovary(2)|skin(1)|urinary_tract(1) 30 AGAATATTCCATTTTATACAT 0.478000 """Mis, F""" neuroblastoma neuroblastoma congenital central hypoventilation syndrome Neuroblastoma, Familial Clustering of;Congenital Central Hypoventilation Syndrome 16 35 0 0 1 0 0 CDH9 1007 broad.mit.edu 37 5 26881432 26881432 + Missense_Mutation SNP C C G TCGA-IQ-A6SG-01A-12D-A34J-08 TCGA-IQ-A6SG-10A-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 09d1b40f-c5c2-49e7-bc2a-8a076ba59658 7f6c4b53-f204-4f74-a112-83d89e542313 g.chr5:26881432C>G ENST00000231021.4 - 12 2355 c.2183G>C c.(2182-2184)aGt>aCt p.S728T NM_016279.3 NP_057363.3 Q9ULB4 CADH9_HUMAN cadherin 9, type 2 (T1-cadherin) 728 adherens junction organization|cell junction assembly|homophilic cell adhesion integral to membrane|plasma membrane calcium ion binding breast(6)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(25)|lung(80)|ovary(5)|prostate(4)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1) 137 TGGAGGTGCACTTGGGTCTGC 0.413000 60 114 0 0 1 0 0 CROCCP2 84809 broad.mit.edu 37 1 16946407 16946407 + RNA SNP T T G rs10796418 by1000genomes TCGA-IQ-A6SG-01A-12D-A34J-08 TCGA-IQ-A6SG-10A-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 09d1b40f-c5c2-49e7-bc2a-8a076ba59658 7f6c4b53-f204-4f74-a112-83d89e542313 g.chr1:16946407T>G ENST00000412962.1 - 0 1112 AGCAATCTCCTCACTCAGCTG 0.672000 3 24 0 0 1 0 0 CHN1 1123 broad.mit.edu 37 2 175673737 175673737 + Missense_Mutation SNP T T G TCGA-IQ-A6SG-01A-12D-A34J-08 TCGA-IQ-A6SG-10A-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 09d1b40f-c5c2-49e7-bc2a-8a076ba59658 7f6c4b53-f204-4f74-a112-83d89e542313 g.chr2:175673737T>G ENST00000409900.3 - 11 1311 c.998A>C c.(997-999)tAt>tCt p.Y333S CHN1_ENST00000295497.7_Missense_Mutation_p.Y208S|CHN1_ENST00000409597.1_Missense_Mutation_p.Y149S|CHN1_ENST00000488080.1_5'UTR|CHN1_ENST00000409156.3_Missense_Mutation_p.Y307S NM_001822.5 NP_001813.1 P15882 CHIN_HUMAN chimerin 1 333 Rho-GAP. regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction cytosol GTPase activator activity|metal ion binding|SH3/SH2 adaptor activity NS(1)|breast(1)|kidney(1)|large_intestine(3)|lung(7)|ovary(2)|prostate(1)|skin(1)|urinary_tract(1) 18 OV - Ovarian serous cystadenocarcinoma(117;0.226) GATATCTTCATACATGTTCAC 0.338000 T TAF15 extraskeletal myxoid chondrosarcoma 20 154 0 0 1 0 0 OR10G4 390264 broad.mit.edu 37 11 123886371 123886371 + Silent SNP G G T TCGA-IQ-A6SG-01A-12D-A34J-08 TCGA-IQ-A6SG-10A-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 09d1b40f-c5c2-49e7-bc2a-8a076ba59658 7f6c4b53-f204-4f74-a112-83d89e542313 g.chr11:123886371G>T ENST00000320891.4 + 1 90 c.90G>T c.(88-90)ctG>ctT p.L30L NM_001004462.1 NP_001004462.1 Q8NGN3 O10G4_HUMAN olfactory receptor, family 10, subfamily G, member 4 30 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity NS(1)|central_nervous_system(1)|endometrium(2)|kidney(4)|large_intestine(8)|lung(19)|ovary(1)|prostate(1)|skin(4)|stomach(6)|upper_aerodigestive_tract(1) 48 Breast(109;0.00867)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|all_neural(223;0.22) BRCA - Breast invasive adenocarcinoma(274;4.88e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0401) GAATCTTCCTGGTGGTTTACG 0.572000 13 38 4.72057e-08 5.17375e-08 1 1 0 FAM180A 389558 broad.mit.edu 37 7 135418804 135418804 + Missense_Mutation SNP G G C TCGA-IQ-A6SG-01A-12D-A34J-08 TCGA-IQ-A6SG-10A-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 09d1b40f-c5c2-49e7-bc2a-8a076ba59658 7f6c4b53-f204-4f74-a112-83d89e542313 g.chr7:135418804G>C ENST00000338588.3 - 3 706 c.441C>G c.(439-441)atC>atG p.I147M FAM180A_ENST00000415751.1_Missense_Mutation_p.I147M NM_205855.3 NP_995327.1 Q6UWF9 F180A_HUMAN family with sequence similarity 180, member A 147 extracellular region endometrium(1)|kidney(2)|large_intestine(2)|lung(6)|ovary(2)|pancreas(1) 14 ACTGCGCCCAGATGTCCTTCT 0.607000 11 42 0 0 1 0 0 TGIF1 7050 broad.mit.edu 37 18 3457732 3457732 + Missense_Mutation SNP G G A TCGA-IQ-A6SG-01A-12D-A34J-08 TCGA-IQ-A6SG-10A-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 09d1b40f-c5c2-49e7-bc2a-8a076ba59658 7f6c4b53-f204-4f74-a112-83d89e542313 g.chr18:3457732G>A ENST00000472042.1 + 2 1537 c.553G>A c.(553-555)Gcc>Acc p.A185T TGIF1_ENST00000407501.2_Missense_Mutation_p.A205T|TGIF1_ENST00000345133.5_Missense_Mutation_p.A185T|TGIF1_ENST00000548489.2_Missense_Mutation_p.A219T|TGIF1_ENST00000400167.2_Missense_Mutation_p.A185T|TGIF1_ENST00000551541.1_Missense_Mutation_p.A185T|TGIF1_ENST00000405385.3_Missense_Mutation_p.A185T|TGIF1_ENST00000343820.5_Missense_Mutation_p.A205T|TGIF1_ENST00000330513.5_Missense_Mutation_p.A334T|TGIF1_ENST00000401449.1_Missense_Mutation_p.A185T Q15583 TGIF1_HUMAN TGFB-induced factor homeobox 1 334 negative regulation of transcription from RNA polymerase II promoter nucleus sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription corepressor activity cervix(1)|endometrium(3)|large_intestine(4)|lung(2)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1) 13 Esophageal squamous(4;0.0859) Colorectal(8;0.0104) GCAGATAGCGGCCAAAAACTT 0.483000 4 55 0 0 1 0 0 ROS1 6098 broad.mit.edu 37 6 117677962 117677962 + Missense_Mutation SNP C C A TCGA-IQ-A6SG-01A-12D-A34J-08 TCGA-IQ-A6SG-10A-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 09d1b40f-c5c2-49e7-bc2a-8a076ba59658 7f6c4b53-f204-4f74-a112-83d89e542313 g.chr6:117677962C>A ENST00000368508.3 - 25 4169 c.3971G>T c.(3970-3972)aGg>aTg p.R1324M GOPC_ENST00000467125.1_Intron|ROS1_ENST00000368507.3_Missense_Mutation_p.R1319M NM_002944.2 NP_002935.2 P08922 ROS_HUMAN c-ros oncogene 1 , receptor tyrosine kinase 1324 transmembrane receptor protein tyrosine kinase signaling pathway membrane fraction|sodium:potassium-exchanging ATPase complex ATP binding|transmembrane receptor protein tyrosine kinase activity TPM3_ENST00000368530/ROS1(4)|LRIG3/ROS1(2)|CD74_ENST00000009530/ROS1(32)|SLC34A2/ROS1(14)|EZR/ROS1(4)|GOPC/ROS1(14)|SDC4/ROS1(7) NS(2)|breast(7)|central_nervous_system(5)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(12)|large_intestine(28)|lung(56)|ovary(8)|prostate(5)|skin(19)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(3) 162 all_cancers(87;0.00846)|all_epithelial(87;0.0242) GBM - Glioblastoma multiforme(226;0.0387)|OV - Ovarian serous cystadenocarcinoma(136;0.0954)|all cancers(137;0.137) ACATTGATTCCTTTTGTTTTG 0.383000 T """GOPC, SDC4, SLC34A2, EZR, LRIG3""" """glioblastoma, NSCLC""" 26 71 3.73988e-18 4.57468e-18 1 1 0 NOS1AP 9722 broad.mit.edu 37 1 162335326 162335326 + Missense_Mutation SNP G G A TCGA-IQ-A6SG-01A-12D-A34J-08 TCGA-IQ-A6SG-10A-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 09d1b40f-c5c2-49e7-bc2a-8a076ba59658 7f6c4b53-f204-4f74-a112-83d89e542313 g.chr1:162335326G>A ENST00000493151.1 + 1 2554 c.187G>A c.(187-189)Gag>Aag p.E63K RP11-565P22.6_ENST00000431696.1_Missense_Mutation_p.E44K|NOS1AP_ENST00000361897.5_Missense_Mutation_p.E358K|NOS1AP_ENST00000530878.1_Missense_Mutation_p.E353K NM_001126060.1 NP_001119532.2 O75052 CAPON_HUMAN nitric oxide synthase 1 (neuronal) adaptor protein 358 PID. 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) GCAGGTGCAAGAGCTGGAACT 0.592000 25 38 0 0 1 0 0 ADPRH 141 broad.mit.edu 37 3 119306398 119306398 + Silent SNP C C T rs148728137 TCGA-IQ-A6SG-01A-12D-A34J-08 TCGA-IQ-A6SG-10A-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 09d1b40f-c5c2-49e7-bc2a-8a076ba59658 7f6c4b53-f204-4f74-a112-83d89e542313 g.chr3:119306398C>T ENST00000478399.1 + 4 2152 c.747C>T c.(745-747)ttC>ttT p.F249F ADPRH_ENST00000357003.3_Silent_p.F249F|ADPRH_ENST00000478927.1_Silent_p.F249F|ADPRH_ENST00000471850.1_3'UTR|ADPRH_ENST00000465513.1_Silent_p.F249F P54922 ADPRH_HUMAN ADP-ribosylarginine hydrolase 249 protein de-ADP-ribosylation ADP-ribosylarginine hydrolase activity|magnesium ion binding breast(1)|kidney(1)|lung(10)|ovary(1) 13 Lung NSC(201;0.0977) GBM - Glioblastoma multiforme(114;0.23) CTGAGTCTTTCGGTGTGAAGG 0.507000 5 119 0 0 1 0 0 HGS 9146 broad.mit.edu 37 17 79652675 79652675 + Silent SNP G G A TCGA-IQ-A6SG-01A-12D-A34J-08 TCGA-IQ-A6SG-10A-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 09d1b40f-c5c2-49e7-bc2a-8a076ba59658 7f6c4b53-f204-4f74-a112-83d89e542313 g.chr17:79652675G>A ENST00000329138.4 + 2 213 c.78G>A c.(76-78)gaG>gaA p.E26E NM_004712.4 NP_004703.1 O14964 HGS_HUMAN hepatocyte growth factor-regulated tyrosine kinase substrate 26 VHS. cellular membrane organization|endosome transport|epidermal growth factor receptor signaling pathway|intracellular protein transport|negative regulation of cell proliferation|negative regulation of epidermal growth factor receptor signaling pathway|negative regulation of JAK-STAT cascade|regulation of protein catabolic process cytosol|early endosome membrane|multivesicular body membrane metal ion binding|protein domain specific binding endometrium(2)|kidney(3)|lung(4)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1) 12 all_neural(118;0.0878)|all_lung(278;0.23) BRCA - Breast invasive adenocarcinoma(99;0.0101)|OV - Ovarian serous cystadenocarcinoma(97;0.0955) CAGATTGGGAGTCCATTTTGC 0.597000 36 79 0 0 1 0 0 TPTE 7179 broad.mit.edu 37 21 10934967 10934967 + Missense_Mutation SNP G G C rs148448130 byFrequency TCGA-IQ-A6SG-01A-12D-A34J-08 TCGA-IQ-A6SG-10A-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 09d1b40f-c5c2-49e7-bc2a-8a076ba59658 7f6c4b53-f204-4f74-a112-83d89e542313 g.chr21:10934967G>C ENST00000298232.7 - 14 1139 c.772C>G c.(772-774)Cga>Gga p.R258G TPTE_ENST00000361285.4_Missense_Mutation_p.R276G|TPTE_ENST00000342420.5_Missense_Mutation_p.R238G|TPTE_ENST00000415664.2_5'UTR NM_199259.2 NP_954868.1 P56180 TPTE_HUMAN transmembrane phosphatase with tensin homology 276 Phosphatase tensin-type. signal transduction integral to membrane ion channel activity|protein tyrosine phosphatase activity|protein tyrosine/serine/threonine phosphatase activity p.R276R(1)|p.R258R(1) NS(1)|breast(1)|central_nervous_system(2)|cervix(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(19)|lung(76)|ovary(2)|prostate(2)|skin(8)|urinary_tract(1) 130 Colorectal(6;3.44e-05)|COAD - Colon adenocarcinoma(6;0.00727)|READ - Rectum adenocarcinoma(6;0.0723) UCEC - Uterine corpus endometrioid carcinoma (6;0.0974)|all cancers(6;2.54e-22)|Epithelial(6;4.21e-19)|OV - Ovarian serous cystadenocarcinoma(6;1.16e-09)|BRCA - Breast invasive adenocarcinoma(6;7.72e-05)|Lung(8;0.000189)|LUSC - Lung squamous cell carcinoma(6;0.00379)|GBM - Glioblastoma multiforme(6;0.00391)|Kidney(17;0.0773)|LUAD - Lung adenocarcinoma(8;0.247) TAGTGGTTTCGGTGTTTCTTA 0.358000 25 267 0 0 1 0 0 SIDT2 51092 broad.mit.edu 37 11 117060985 117060985 + Missense_Mutation SNP C C T TCGA-IQ-A6SG-01A-12D-A34J-08 TCGA-IQ-A6SG-10A-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 09d1b40f-c5c2-49e7-bc2a-8a076ba59658 7f6c4b53-f204-4f74-a112-83d89e542313 g.chr11:117060985C>T ENST00000324225.4 + 17 2128 c.1597C>T c.(1597-1599)Cgc>Tgc p.R533C SIDT2_ENST00000431081.2_Missense_Mutation_p.R530C NM_001040455.1 NP_001035545.1 Q8NBJ9 SIDT2_HUMAN SID1 transmembrane family, member 2 533 integral to membrane|lysosomal membrane NS(1)|breast(2)|endometrium(4)|kidney(1)|large_intestine(9)|lung(11)|ovary(1)|prostate(4)|skin(1)|upper_aerodigestive_tract(2) 36 all_hematologic(175;0.0487) Breast(348;0.00908)|Medulloblastoma(222;0.0425)|all_hematologic(192;0.196)|all_neural(223;0.234) BRCA - Breast invasive adenocarcinoma(274;1.69e-05)|Epithelial(105;0.000219)|all cancers(92;0.00144) GGCCCTGCTGCGCAATGACCT 0.602000 23 90 0 0 1 0 0 LRR1 122769 broad.mit.edu 37 14 50074659 50074659 + Missense_Mutation SNP G G T TCGA-IQ-A6SG-01A-12D-A34J-08 TCGA-IQ-A6SG-10A-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 09d1b40f-c5c2-49e7-bc2a-8a076ba59658 7f6c4b53-f204-4f74-a112-83d89e542313 g.chr14:50074659G>T ENST00000298288.6 + 3 1148 c.824G>T c.(823-825)cGc>cTc p.R275L LRR1_ENST00000318317.4_Intron NM_152329.3 NP_689542.2 Q96L50 LLR1_HUMAN leucine rich repeat protein 1 275 kidney(2)|large_intestine(1)|lung(5)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 11 ATAAACCTTCGCTTTTTGTCA 0.343000 21 70 1.55795e-14 1.85599e-14 1 1 0 KBTBD13 390594 broad.mit.edu 37 15 65370387 65370387 + Missense_Mutation SNP C C A TCGA-IQ-A6SG-01A-12D-A34J-08 TCGA-IQ-A6SG-10A-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 09d1b40f-c5c2-49e7-bc2a-8a076ba59658 7f6c4b53-f204-4f74-a112-83d89e542313 g.chr15:65370387C>A ENST00000432196.2 + 1 1234 c.1234C>A c.(1234-1236)Ctg>Atg p.L412M NM_001101362.2 NP_001094832.1 C9JR72 KBTBD_HUMAN kelch repeat and BTB (POZ) domain containing 13 412 cytoplasm lung(1)|prostate(1)|skin(1) 3 CATGTTCACGCTGCTCTACGC 0.667000 7 27 8.12818e-05 8.50047e-05 1 1 0 ETV3 2117 broad.mit.edu 37 1 157105334 157105334 + Silent SNP C C T TCGA-IQ-A6SG-01A-12D-A34J-08 TCGA-IQ-A6SG-10A-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 09d1b40f-c5c2-49e7-bc2a-8a076ba59658 7f6c4b53-f204-4f74-a112-83d89e542313 g.chr1:157105334C>T ENST00000368192.4 - 3 277 c.213G>A c.(211-213)gaG>gaA p.E71E ETV3_ENST00000326786.4_Silent_p.E71E|ETV3_ENST00000460850.1_5'UTR NM_001145312.1 NP_001138784.1 P41162 ETV3_HUMAN ets variant 3 71 sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity breast(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(2)|prostate(2) 9 Hepatocellular(266;0.158) Prostate(1639;0.174) GGCGGGCCACCTCATCTGGAT 0.547000 13 40 0 0 1 0 0 LMBRD1 55788 broad.mit.edu 37 6 70386387 70386387 + Missense_Mutation SNP C C A TCGA-IQ-A6SG-01A-12D-A34J-08 TCGA-IQ-A6SG-10A-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 09d1b40f-c5c2-49e7-bc2a-8a076ba59658 7f6c4b53-f204-4f74-a112-83d89e542313 g.chr6:70386387C>A ENST00000370577.3 - 15 1693 c.1464G>T c.(1462-1464)tgG>tgT p.W488C LMBRD1_ENST00000370570.1_Missense_Mutation_p.W415C NM_018368.3 NP_060838.3 Q9NUN5 LMBD1_HUMAN LMBR1 domain containing 1 488 interspecies interaction between organisms|transport integral to membrane|lysosomal membrane cobalamin binding breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(4)|large_intestine(7)|lung(11)|ovary(2)|upper_aerodigestive_tract(1) 31 CACTGAAGAACCAGAACTTGT 0.383000 21 35 2.21704e-12 2.53112e-12 1 1 0 KIF2B 84643 broad.mit.edu 37 17 51901844 51901844 + Missense_Mutation SNP G G C TCGA-IQ-A6SG-01A-12D-A34J-08 TCGA-IQ-A6SG-10A-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 09d1b40f-c5c2-49e7-bc2a-8a076ba59658 7f6c4b53-f204-4f74-a112-83d89e542313 g.chr17:51901844G>C ENST00000268919.4 + 1 1606 c.1450G>C c.(1450-1452)Gct>Cct p.A484P NM_032559.4 NP_115948.4 Q8N4N8 KIF2B_HUMAN kinesin family member 2B 484 blood coagulation|cell division|microtubule depolymerization|microtubule-based movement|mitotic prometaphase|regulation of chromosome segregation condensed chromosome kinetochore|cytosol|microtubule|microtubule organizing center|nucleolus|spindle ATP binding|microtubule motor activity NS(1)|breast(2)|endometrium(7)|kidney(2)|large_intestine(15)|lung(58)|ovary(5)|prostate(4)|skin(7)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 104 ATGTATTCTGGCTTTGGGTCA 0.507000 27 34 0 0 1 0 0 GPX5 2880 broad.mit.edu 37 6 28499654 28499654 + Missense_Mutation SNP A A C TCGA-IQ-A6SG-01A-12D-A34J-08 TCGA-IQ-A6SG-10A-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 09d1b40f-c5c2-49e7-bc2a-8a076ba59658 7f6c4b53-f204-4f74-a112-83d89e542313 g.chr6:28499654A>C ENST00000412168.2 + 3 430 c.341A>C c.(340-342)gAg>gCg p.E114A GPX5_ENST00000442674.2_3'UTR|GPX5_ENST00000469384.1_Intron NM_001509.2 NP_001500.1 O75715 GPX5_HUMAN glutathione peroxidase 5 (epididymal androgen-related protein) 114 lipid metabolic process|response to oxidative stress extracellular region glutathione peroxidase activity endometrium(2)|large_intestine(4)|lung(7)|prostate(1)|skin(1)|upper_aerodigestive_tract(1) 16 Glutathione(DB00143) GATAACAAAGAGATTCTTCCT 0.488000 39 237 0 0 1 0 0 KAT6B 23522 broad.mit.edu 37 10 76602906 76602906 + Silent SNP A A G TCGA-IQ-A6SG-01A-12D-A34J-08 TCGA-IQ-A6SG-10A-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 09d1b40f-c5c2-49e7-bc2a-8a076ba59658 7f6c4b53-f204-4f74-a112-83d89e542313 g.chr10:76602906A>G ENST00000287239.4 + 3 780 c.291A>G c.(289-291)ggA>ggG p.G97G KAT6B_ENST00000372724.1_Silent_p.G97G|KAT6B_ENST00000372725.1_Silent_p.G97G|KAT6B_ENST00000372711.1_Silent_p.G97G|KAT6B_ENST00000372714.1_Silent_p.G97G NM_001256468.1|NM_012330.3 NP_001243397.1|NP_036462.2 Q8WYB5 MYST4_HUMAN K(lysine) acetyltransferase 6B 97 histone H3 acetylation|negative regulation of transcription, DNA-dependent|nucleosome assembly|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent MOZ/MORF histone acetyltransferase complex|nucleosome DNA binding|histone acetyltransferase activity|transcription factor binding|zinc ion binding GGTCTAGAGGATCATGTAATG 0.473000 80 86 0 0 1 0 0 MAGOH 4116 broad.mit.edu 37 1 53692748 53692748 + Missense_Mutation SNP A A G TCGA-IQ-A6SG-01A-12D-A34J-08 TCGA-IQ-A6SG-10A-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 09d1b40f-c5c2-49e7-bc2a-8a076ba59658 7f6c4b53-f204-4f74-a112-83d89e542313 g.chr1:53692748A>G ENST00000371470.3 - 5 571 c.410T>C c.(409-411)aTt>aCt p.I137T MAGOH_ENST00000371466.4_Missense_Mutation_p.I100T NM_002370.3 NP_002361.1 P61326 MGN_HUMAN mago-nashi homolog, proliferation-associated (Drosophila) 137 mRNA 3'-end processing|mRNA export from nucleus|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay|regulation of translation|termination of RNA polymerase II transcription catalytic step 2 spliceosome|cytosol|exon-exon junction complex|nuclear speck protein binding|RNA binding p.I137T(1) haematopoietic_and_lymphoid_tissue(1)|lung(4)|urinary_tract(1) 6 GTGTAATCCAATAAGACTGAA 0.378000 3 69 0 0 1 0 0 OR10G9 219870 broad.mit.edu 37 11 123893809 123893809 + Silent SNP G G T TCGA-IQ-A6SG-01A-12D-A34J-08 TCGA-IQ-A6SG-10A-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 09d1b40f-c5c2-49e7-bc2a-8a076ba59658 7f6c4b53-f204-4f74-a112-83d89e542313 g.chr11:123893809G>T ENST00000375024.1 + 1 90 c.90G>T c.(88-90)ctG>ctT p.L30L NM_001001953.1 NP_001001953.1 Q8NGN4 O10G9_HUMAN olfactory receptor, family 10, subfamily G, member 9 30 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(33)|prostate(2)|skin(4)|stomach(8)|urinary_tract(1) 61 Breast(109;0.00867)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|all_neural(223;0.22) BRCA - Breast invasive adenocarcinoma(274;4.88e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0399) GAATCTTCCTGGTGGTTTACG 0.577000 7 268 1.5842e-08 1.75029e-08 1 1 0 C10orf10 11067 broad.mit.edu 37 10 45473232 45473232 + Nonsense_Mutation SNP G G A TCGA-IQ-A6SG-01A-12D-A34J-08 TCGA-IQ-A6SG-10A-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 09d1b40f-c5c2-49e7-bc2a-8a076ba59658 7f6c4b53-f204-4f74-a112-83d89e542313 g.chr10:45473232G>A ENST00000298295.3 - 2 464 c.247C>T c.(247-249)Cga>Tga p.R83* RASSF4_ENST00000334940.6_Intron|RASSF4_ENST00000374417.2_Intron|RASSF4_ENST00000472561.1_Intron|C10orf10_ENST00000496638.1_Intron|RASSF4_ENST00000340258.4_Intron NM_007021.3 NP_008952.1 Q9NTK1 DEPP_HUMAN chromosome 10 open reading frame 10 83 mitochondrion lung(1) 1 GTGATGTCTCGCAGGGACACA 0.667000 21 29 0 0 1 0 0 GBP7 388646 broad.mit.edu 37 1 89630514 89630514 + Missense_Mutation SNP G G C TCGA-IQ-A6SG-01A-12D-A34J-08 TCGA-IQ-A6SG-10A-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 09d1b40f-c5c2-49e7-bc2a-8a076ba59658 7f6c4b53-f204-4f74-a112-83d89e542313 g.chr1:89630514G>C ENST00000294671.2 - 3 356 c.218C>G c.(217-219)tCt>tGt p.S73C NM_207398.2 NP_997281.2 Q8N8V2 GBP7_HUMAN guanylate binding protein 7 73 integral to membrane GTP binding|GTPase activity NS(1)|breast(2)|central_nervous_system(1)|endometrium(2)|large_intestine(9)|lung(5)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 27 Lung NSC(277;0.0908) all cancers(265;0.00835)|Epithelial(280;0.0322) TTTGGTTTCAGACTTCACTGT 0.522000 15 80 0 0 1 0 0 CEACAM5 1048 broad.mit.edu 37 19 42223994 42223994 + Missense_Mutation SNP G G T TCGA-IQ-A6SG-01A-12D-A34J-08 TCGA-IQ-A6SG-10A-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 09d1b40f-c5c2-49e7-bc2a-8a076ba59658 7f6c4b53-f204-4f74-a112-83d89e542313 g.chr19:42223994G>T ENST00000221992.6 + 7 1752 c.1638G>T c.(1636-1638)agG>agT p.R546S CEACAM5_ENST00000405816.1_Missense_Mutation_p.R546S|CEACAM5_ENST00000398599.4_Missense_Mutation_p.R545S|CEA_ENST00000598976.1_Intron NM_004363.2 NP_004354.2 P06731 CEAM5_HUMAN carcinoembryonic antigen-related cell adhesion molecule 5 546 Ig-like 6. anchored to membrane|basolateral plasma membrane|integral to plasma membrane breast(1)|endometrium(3)|kidney(5)|large_intestine(4)|lung(10)|ovary(2)|skin(7)|stomach(1)|urinary_tract(1) 34 OV - Ovarian serous cystadenocarcinoma(3;0.00278)|all cancers(3;0.00625)|Epithelial(262;0.0379)|GBM - Glioblastoma multiforme(1328;0.142) TCAGTCCCAGGCTGCAGCTGT 0.517000 44 171 3.4345e-17 4.12742e-17 1 1 0 PRSS33 260429 broad.mit.edu 37 16 2834670 2834670 + Nonsense_Mutation SNP C C T TCGA-IQ-A6SG-01A-12D-A34J-08 TCGA-IQ-A6SG-10A-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 09d1b40f-c5c2-49e7-bc2a-8a076ba59658 7f6c4b53-f204-4f74-a112-83d89e542313 g.chr16:2834670C>T ENST00000293851.5 - 6 977 c.818G>A c.(817-819)tGg>tAg p.W273* PRSS33_ENST00000570702.1_Nonsense_Mutation_p.W273*|PRSS33_ENST00000576886.1_3'UTR NM_152891.2 NP_690851.2 Q8NF86 PRS33_HUMAN protease, serine, 33 273 Peptidase S1. proteolysis serine-type endopeptidase activity prostate(1) 1 AGCCTGAATCCAGGGGCTATA 0.637000 9 9 0 0 1 0 0 SERPINH1 871 broad.mit.edu 37 11 75277940 75277940 + Silent SNP C C T TCGA-IQ-A6SG-01A-12D-A34J-08 TCGA-IQ-A6SG-10A-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 09d1b40f-c5c2-49e7-bc2a-8a076ba59658 7f6c4b53-f204-4f74-a112-83d89e542313 g.chr11:75277940C>T ENST00000524558.1 + 2 1981 c.546C>T c.(544-546)gaC>gaT p.D182D SERPINH1_ENST00000530284.1_Silent_p.D182D|SERPINH1_ENST00000358171.3_Silent_p.D182D|SERPINH1_ENST00000533603.1_Silent_p.D182D P50454 SERPH_HUMAN serpin peptidase inhibitor, clade H (heat shock protein 47), member 1, (collagen binding protein 1) 182 regulation of proteolysis|response to unfolded protein endoplasmic reticulum lumen|ER-Golgi intermediate compartment collagen binding|serine-type endopeptidase inhibitor activity endometrium(4)|large_intestine(3)|liver(1)|lung(4)|ovary(2)|stomach(1) 15 Ovarian(111;0.11) AGACCACCGACGGCAAGCTGC 0.647000 40 43 0 0 1 0 0 OBSCN 84033 broad.mit.edu 37 1 228509168 228509168 + Missense_Mutation SNP G G A TCGA-IQ-A6SG-01A-12D-A34J-08 TCGA-IQ-A6SG-10A-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 09d1b40f-c5c2-49e7-bc2a-8a076ba59658 7f6c4b53-f204-4f74-a112-83d89e542313 g.chr1:228509168G>A ENST00000570156.2 + 66 17571 c.17497G>A c.(17497-17499)Gct>Act p.A5833T OBSCN_ENST00000366709.4_Missense_Mutation_p.A1995T|OBSCN_ENST00000422127.1_Missense_Mutation_p.A4876T|OBSCN_ENST00000366707.4_Missense_Mutation_p.A2510T|OBSCN_ENST00000284548.11_Missense_Mutation_p.A4876T NM_001271223.2 NP_001258152.2 Q5VST9 OBSCN_HUMAN obscurin, cytoskeletal calmodulin and titin-interacting RhoGEF 4876 DH. apoptosis|cell differentiation|induction of apoptosis by extracellular signals|multicellular organismal development|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction cytosol|M band|Z disc ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity|protein tyrosine kinase activity|Rho guanyl-nucleotide exchange factor activity|structural constituent of muscle|titin binding NS(2)|breast(7)|central_nervous_system(5)|cervix(2)|endometrium(30)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(37)|lung(89)|ovary(8)|pancreas(3)|prostate(13)|skin(6)|stomach(11)|upper_aerodigestive_tract(2)|urinary_tract(3) 223 Prostate(94;0.0405) GGACAAGGCAGCTGTGAAGAT 0.592000 8 11 0 0 1 0 0 OBSCN 84033 broad.mit.edu 37 1 228558449 228558449 + Missense_Mutation SNP C C T TCGA-IQ-A6SG-01A-12D-A34J-08 TCGA-IQ-A6SG-10A-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 09d1b40f-c5c2-49e7-bc2a-8a076ba59658 7f6c4b53-f204-4f74-a112-83d89e542313 g.chr1:228558449C>T ENST00000570156.2 + 104 23181 c.23107C>T c.(23107-23109)Cgc>Tgc p.R7703C OBSCN_ENST00000422127.1_Missense_Mutation_p.R6746C|OBSCN_ENST00000366707.4_Missense_Mutation_p.R4380C NM_001271223.2 NP_001258152.2 Q5VST9 OBSCN_HUMAN obscurin, cytoskeletal calmodulin and titin-interacting RhoGEF 6746 Protein kinase 2. apoptosis|cell differentiation|induction of apoptosis by extracellular signals|multicellular organismal development|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction cytosol|M band|Z disc ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity|protein tyrosine kinase activity|Rho guanyl-nucleotide exchange factor activity|structural constituent of muscle|titin binding NS(2)|breast(7)|central_nervous_system(5)|cervix(2)|endometrium(30)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(37)|lung(89)|ovary(8)|pancreas(3)|prostate(13)|skin(6)|stomach(11)|upper_aerodigestive_tract(2)|urinary_tract(3) 223 Prostate(94;0.0405) GGCCCGAAGTCGCTGGCAGGT 0.637000 13 113 0 0 1 0 0 MRPL33 9553 broad.mit.edu 37 2 28002301 28002301 + Splice_Site SNP G G T TCGA-IQ-A6SG-01A-12D-A34J-08 TCGA-IQ-A6SG-10A-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 09d1b40f-c5c2-49e7-bc2a-8a076ba59658 7f6c4b53-f204-4f74-a112-83d89e542313 g.chr2:28002301G>T ENST00000296102.3 + 4 211 c.148_splice c.e4-1 p.V50_splice MRPL33_ENST00000379666.3_Splice_Site_p.E15_splice|AC110084.1_ENST00000601759.1_Intron|MRPL33_ENST00000483992.1_3'UTR NM_004891.3 NP_004882.1 O75394 RM33_HUMAN mitochondrial ribosomal protein L33 50 translation mitochondrion|ribosome structural constituent of ribosome breast(1)|large_intestine(1) 2 Acute lymphoblastic leukemia(172;0.155) CCTCCATAGTGAAACAAAGAG 0.358000 15 139 3.45872e-05 3.64496e-05 1 1 0 HERC2 8924 broad.mit.edu 37 15 28515878 28515878 + Missense_Mutation SNP C C T TCGA-IQ-A6SG-01A-12D-A34J-08 TCGA-IQ-A6SG-10A-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 09d1b40f-c5c2-49e7-bc2a-8a076ba59658 7f6c4b53-f204-4f74-a112-83d89e542313 g.chr15:28515878C>T ENST00000261609.7 - 10 1328 c.1220G>A c.(1219-1221)tGt>tAt p.C407Y NM_004667.5 NP_004658.3 O95714 HERC2_HUMAN HECT and RLD domain containing E3 ubiquitin protein ligase 2 407 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 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) CGGAGGCATACAGGGCGTAGC 0.512000 4 70 0 0 1 0 0 SLCO6A1 133482 broad.mit.edu 37 5 101834536 101834536 + Missense_Mutation SNP C C T TCGA-IQ-A6SG-01A-12D-A34J-08 TCGA-IQ-A6SG-10A-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 09d1b40f-c5c2-49e7-bc2a-8a076ba59658 7f6c4b53-f204-4f74-a112-83d89e542313 g.chr5:101834536C>T ENST00000506729.1 - 1 184 c.13G>A c.(13-15)Gtc>Atc p.V5I SLCO6A1_ENST00000379810.1_Missense_Mutation_p.V5I|SLCO6A1_ENST00000379807.3_Missense_Mutation_p.V5I|SLCO6A1_ENST00000389019.3_Missense_Mutation_p.V5I|SLCO6A1_ENST00000513675.1_Missense_Mutation_p.V5I Q86UG4 SO6A1_HUMAN solute carrier organic anion transporter family, member 6A1 5 integral to membrane|plasma membrane transporter activity breast(1)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(17)|lung(22)|ovary(3)|prostate(4)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(1) 60 all_cancers(142;8e-09)|all_epithelial(76;2.83e-12)|Prostate(80;0.00125)|Colorectal(57;0.00342)|Ovarian(225;0.024)|Lung NSC(167;0.0259)|all_lung(232;0.0323) Epithelial(69;1.47e-15)|COAD - Colon adenocarcinoma(37;0.0113) TGCCGGGCGACGCCTACGAAC 0.701000 64 100 0 0 1 0 0 IFT81 28981 broad.mit.edu 37 12 110600833 110600833 + Missense_Mutation SNP G G T TCGA-IQ-A6SG-01A-12D-A34J-08 TCGA-IQ-A6SG-10A-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 09d1b40f-c5c2-49e7-bc2a-8a076ba59658 7f6c4b53-f204-4f74-a112-83d89e542313 g.chr12:110600833G>T ENST00000242591.5 + 11 1657 c.1151G>T c.(1150-1152)cGt>cTt p.R384L IFT81_ENST00000552912.1_Missense_Mutation_p.R384L|IFT81_ENST00000549009.1_3'UTR|IFT81_ENST00000361948.4_Missense_Mutation_p.R384L NM_014055.3 NP_054774.2 Q8WYA0 IFT81_HUMAN intraflagellar transport 81 homolog (Chlamydomonas) 384 cell differentiation|multicellular organismal development|spermatogenesis intraflagellar transport particle B|microtubule-based flagellum endometrium(1)|large_intestine(2)|lung(5)|ovary(1)|stomach(1) 10 AATCAGACCCGTGAATTTGAT 0.418000 37 69 2.59497e-14 3.06475e-14 1 1 0 GABPB2 126626 broad.mit.edu 37 1 151090449 151090449 + Missense_Mutation SNP A A T TCGA-IQ-A6SG-01A-12D-A34J-08 TCGA-IQ-A6SG-10A-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 09d1b40f-c5c2-49e7-bc2a-8a076ba59658 7f6c4b53-f204-4f74-a112-83d89e542313 g.chr1:151090449A>T ENST00000368918.3 + 9 1395 c.1064A>T c.(1063-1065)gAg>gTg p.E355V GABPB2_ENST00000467551.1_3'UTR|GABPB2_ENST00000368916.1_Missense_Mutation_p.E317V|GABPB2_ENST00000368917.1_Missense_Mutation_p.E317V NM_144618.2 NP_653219.1 Q8TAK5 GABP2_HUMAN GA binding protein transcription factor, beta subunit 2 355 positive regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent nucleus protein heterodimerization activity|transcription regulatory region DNA binding breast(1)|endometrium(2)|large_intestine(3)|liver(2)|lung(7) 15 all cancers(107;7.17e-05)|GBM - Glioblastoma multiforme(94;0.000662) AATGAAAGAGAGCTACTACAG 0.468000 20 75 0 0 1 0 0 ASPM 259266 broad.mit.edu 37 1 197094227 197094227 + Missense_Mutation SNP T T C TCGA-IQ-A6SG-01A-12D-A34J-08 TCGA-IQ-A6SG-10A-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 09d1b40f-c5c2-49e7-bc2a-8a076ba59658 7f6c4b53-f204-4f74-a112-83d89e542313 g.chr1:197094227T>C ENST00000367409.4 - 11 3287 c.3031A>G c.(3031-3033)Att>Gtt p.I1011V ASPM_ENST00000367408.1_Missense_Mutation_p.I261V|ASPM_ENST00000294732.7_Missense_Mutation_p.I1011V NM_018136.4 NP_060606.3 Q8IZT6 ASPM_HUMAN asp (abnormal spindle) homolog, microcephaly associated (Drosophila) 1011 CH 1. mitosis cytoplasm|nucleus calmodulin binding breast(6)|central_nervous_system(2)|cervix(2)|endometrium(10)|kidney(9)|large_intestine(28)|liver(1)|lung(87)|ovary(5)|pancreas(2)|prostate(6)|skin(4)|urinary_tract(3) 165 TGAAGAACAATGTCAACATTG 0.393000 26 71 0 0 1 0 0 MROH2B 133558 broad.mit.edu 37 5 41052690 41052690 + Splice_Site SNP C C T TCGA-IQ-A6SG-01A-12D-A34J-08 TCGA-IQ-A6SG-10A-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 09d1b40f-c5c2-49e7-bc2a-8a076ba59658 7f6c4b53-f204-4f74-a112-83d89e542313 g.chr5:41052690C>T ENST00000399564.4 - 12 1558 c.e12-1 MROH2B_ENST00000506092.2_Intron NM_173489.4 NP_775760.3 maestro heat-like repeat family member 2B AATTTCTTACCTAGGGTAAGA 0.353000 14 23 0 0 1 0 0 TAF1 6872 broad.mit.edu 37 X 70607209 70607209 + Silent SNP G G A TCGA-IQ-A6SG-01A-12D-A34J-08 TCGA-IQ-A6SG-10A-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 09d1b40f-c5c2-49e7-bc2a-8a076ba59658 7f6c4b53-f204-4f74-a112-83d89e542313 g.chrX:70607209G>A ENST00000449580.1 + 15 2373 c.2322G>A c.(2320-2322)cgG>cgA p.R774R TAF1_ENST00000373790.4_Silent_p.R774R|TAF1_ENST00000276072.3_Silent_p.R795R|TAF1_ENST00000423759.1_Silent_p.R795R P21675 TAF1_HUMAN TAF1 RNA polymerase II, TATA box binding protein (TBP)-associated factor, 250kDa 774 G1 phase of mitotic cell cycle|interspecies interaction between organisms|peptidyl-serine phosphorylation|peptidyl-threonine phosphorylation|positive regulation of proteasomal ubiquitin-dependent protein catabolic process|positive regulation of transcription from RNA polymerase II promoter|positive regulation of transcription initiation from RNA polymerase II promoter|protein autophosphorylation|regulation of transcription involved in G2/M-phase of mitotic cell cycle|RNA polymerase II transcriptional preinitiation complex assembly|transcription elongation from RNA polymerase II promoter|viral reproduction MLL1 complex|transcription factor TFIID complex ATP binding|histone acetyl-lysine binding|histone acetyltransferase activity|p53 binding|protein binding|protein serine/threonine kinase activity|sequence-specific DNA binding|TBP-class protein binding|transcription coactivator activity breast(13)|central_nervous_system(6)|cervix(1)|endometrium(25)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(16)|lung(34)|ovary(9)|prostate(3)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(3) 124 Renal(35;0.156) all_lung(315;0.000321) ACTATATTCGGGAATTAGTGG 0.418000 28 185 0 0 1 0 0 VEGFB 7423 broad.mit.edu 37 11 64004683 64004683 + Silent SNP G G T TCGA-IQ-A6SG-01A-12D-A34J-08 TCGA-IQ-A6SG-10A-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 09d1b40f-c5c2-49e7-bc2a-8a076ba59658 7f6c4b53-f204-4f74-a112-83d89e542313 g.chr11:64004683G>T ENST00000309422.2 + 5 695 c.399G>T c.(397-399)gtG>gtT p.V133V VEGFB_ENST00000426086.2_Silent_p.V133V NM_001243733.1|NM_003377.4 NP_001230662.1|NP_003368.1 P49765 VEGFB_HUMAN vascular endothelial growth factor B 133 anti-apoptosis|induction of positive chemotaxis|negative regulation of gene expression|negative regulation of neuron apoptosis|platelet activation|platelet degranulation|positive regulation of cell division|positive regulation of endothelial cell proliferation|positive regulation of ERK1 and ERK2 cascade|positive regulation of mast cell chemotaxis|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of protein kinase B signaling cascade|positive regulation of vascular endothelial growth factor receptor signaling pathway|positive regulation of vascular wound healing|vascular endothelial growth factor receptor signaling pathway extracellular region|extracellular space|membrane|platelet alpha granule lumen chemoattractant activity|growth factor activity|heparin binding|vascular endothelial growth factor receptor 1 binding endometrium(2)|large_intestine(2)|prostate(1)|stomach(1) 6 ACAGTGCTGTGAAGCCAGACA 0.488000 35 120 1.04594e-18 1.29093e-18 1 1 0 NPBWR2 2832 broad.mit.edu 37 20 62737418 62737418 + Missense_Mutation SNP C C T TCGA-IQ-A6SG-01A-12D-A34J-08 TCGA-IQ-A6SG-10A-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 09d1b40f-c5c2-49e7-bc2a-8a076ba59658 7f6c4b53-f204-4f74-a112-83d89e542313 g.chr20:62737418C>T ENST00000369768.1 - 1 1106 c.767G>A c.(766-768)cGg>cAg p.R256Q NM_005286.2 NP_005277.2 P48146 NPBW2_HUMAN neuropeptides B/W receptor 2 256 plasma membrane opioid receptor activity|protein binding p.R256L(1) haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(12)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 18 all_cancers(38;2.58e-11)|all_epithelial(29;6.4e-13)|Lung NSC(23;1.25e-09)|all_lung(23;4.21e-09) GGTCACCTTCCGCCTGGCCTT 0.687000 6 17 0 0 1 0 0 TTN 7273 broad.mit.edu 37 2 179604205 179604205 + Silent SNP A A G TCGA-IQ-A6SG-01A-12D-A34J-08 TCGA-IQ-A6SG-10A-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 09d1b40f-c5c2-49e7-bc2a-8a076ba59658 7f6c4b53-f204-4f74-a112-83d89e542313 g.chr2:179604205A>G ENST00000589042.1 - 48 13979 c.13755T>C c.(13753-13755)acT>acC p.T4585T TTN-AS1_ENST00000590773.1_RNA|TTN_ENST00000359218.5_Silent_p.T4347T|TTN_ENST00000591111.1_Silent_p.T4268T|TTN_ENST00000342175.6_Silent_p.T4414T|TTN-AS1_ENST00000582847.1_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000460472.2_Silent_p.T4222T|TTN_ENST00000342992.6_Intron NM_001267550.1 NP_001254479.1 Q8WZ42 TITIN_HUMAN titin 4268 Ig-like 26. ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26) 1448 OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134) CAACCTCCTCAGTACCACTTT 0.453000 16 122 0 0 1 0 0 MTUS2 23281 broad.mit.edu 37 13 29608146 29608146 + Missense_Mutation SNP G G A TCGA-IQ-A6SG-01A-12D-A34J-08 TCGA-IQ-A6SG-10A-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 09d1b40f-c5c2-49e7-bc2a-8a076ba59658 7f6c4b53-f204-4f74-a112-83d89e542313 g.chr13:29608146G>A ENST00000431530.3 + 2 2418 c.2360G>A c.(2359-2361)cGt>cAt p.R787H NM_001033602.2 NP_001028774.2 Q5JR59 MTUS2_HUMAN microtubule associated tumor suppressor candidate 2 777 Mediates interaction with MAPRE1. cytoplasm|microtubule microtubule binding|protein homodimerization activity NS(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(3)|prostate(1)|skin(1) 20 GCAATGTCCCGTTTACCATCT 0.512000 7 33 0 0 1 0 0 ASNSD1 54529 broad.mit.edu 37 2 190530956 190530956 + Missense_Mutation SNP A A G TCGA-IQ-A6SG-01A-12D-A34J-08 TCGA-IQ-A6SG-10A-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 09d1b40f-c5c2-49e7-bc2a-8a076ba59658 7f6c4b53-f204-4f74-a112-83d89e542313 g.chr2:190530956A>G ENST00000260952.4 + 4 511 c.98A>G c.(97-99)aAt>aGt p.N33S ASNSD1_ENST00000607829.1_3'UTR|ASNSD1_ENST00000607535.1_3'UTR|ASNSD1_ENST00000607690.1_3'UTR|ASNSD1_ENST00000607062.1_Intron NM_019048.2 NP_061921.1 Q9NWL6 ASND1_HUMAN asparagine synthetase domain containing 1 33 Glutamine amidotransferase type-2. asparagine biosynthetic process|glutamine metabolic process asparagine synthase (glutamine-hydrolyzing) activity breast(2)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(4)|lung(7)|ovary(2)|prostate(1)|skin(3) 25 OV - Ovarian serous cystadenocarcinoma(117;0.00318)|Epithelial(96;0.0449)|all cancers(119;0.118) CGGGGACCCAATAGTAGTAAA 0.383000 138 140 0 0 1 0 0 ALMS1 7840 broad.mit.edu 37 2 73830430 73830430 + Splice_Site SNP C C T TCGA-IQ-A6SG-01A-12D-A34J-08 TCGA-IQ-A6SG-10A-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 09d1b40f-c5c2-49e7-bc2a-8a076ba59658 7f6c4b53-f204-4f74-a112-83d89e542313 g.chr2:73830430C>T ENST00000264448.6 + 21 12469 c.12359_splice c.e21+1 p.R4120_splice ALMS1_ENST00000409009.1_Splice_Site_p.R4078_splice|ALMS1_ENST00000464408.2_3'UTR NM_015120.4 NP_055935.4 Q8TCU4 ALMS1_HUMAN Alstrom syndrome 1 4120 G2/M transition of mitotic cell cycle centrosome|cilium|cytosol|microtubule basal body|spindle pole breast(4)|endometrium(14)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(31)|lung(68)|ovary(4)|pancreas(4)|prostate(3)|skin(8)|upper_aerodigestive_tract(1)|urinary_tract(2) 147 GAGGTCCAAACGGTAAGACCA 0.448000 26 108 0 0 1 0 0 C4orf40 401137 broad.mit.edu 37 4 71024190 71024190 + Nonsense_Mutation SNP C C A TCGA-IQ-A6SG-01A-12D-A34J-08 TCGA-IQ-A6SG-10A-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 09d1b40f-c5c2-49e7-bc2a-8a076ba59658 7f6c4b53-f204-4f74-a112-83d89e542313 g.chr4:71024190C>A ENST00000344526.5 + 3 410 c.221C>A c.(220-222)tCg>tAg p.S74* C4orf40_ENST00000502441.2_Intron|C4orf40_ENST00000502294.1_Nonsense_Mutation_p.S74* NM_214711.3 NP_999876.2 Q6MZM9 CD040_HUMAN chromosome 4 open reading frame 40 74 extracellular region breast(2)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1) 12 GGGTTACCTTCGTATCCCTGG 0.473000 31 160 4.15321e-07 4.51579e-07 1 1 0 FRMPD4 9758 broad.mit.edu 37 X 12735636 12735636 + Silent SNP G G T TCGA-IQ-A6SG-01A-12D-A34J-08 TCGA-IQ-A6SG-10A-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 09d1b40f-c5c2-49e7-bc2a-8a076ba59658 7f6c4b53-f204-4f74-a112-83d89e542313 g.chrX:12735636G>T ENST00000380682.1 + 16 3197 c.2691G>T c.(2689-2691)cgG>cgT p.R897R NM_014728.3 NP_055543.2 Q14CM0 FRPD4_HUMAN FERM and PDZ domain containing 4 897 positive regulation of synapse structural plasticity cytoskeleton|dendritic spine phosphatidylinositol-4,5-bisphosphate binding|protein binding breast(1)|central_nervous_system(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(1)|ovary(3)|pancreas(1)|skin(3) 22 CCATCTTGCGGGCTTATAGTC 0.438000 30 102 9.17885e-22 1.15367e-21 1 1 0 SPTBN2 6712 broad.mit.edu 37 11 66460751 66460751 + Missense_Mutation SNP G G A TCGA-IQ-A6SG-01A-12D-A34J-08 TCGA-IQ-A6SG-10A-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 09d1b40f-c5c2-49e7-bc2a-8a076ba59658 7f6c4b53-f204-4f74-a112-83d89e542313 g.chr11:66460751G>A ENST00000533211.1 - 24 5091 c.4760C>T c.(4759-4761)gCc>gTc p.A1587V SPTBN2_ENST00000529997.1_Missense_Mutation_p.A1587V|SPTBN2_ENST00000309996.2_Missense_Mutation_p.A1587V O15020 SPTN2_HUMAN spectrin, beta, non-erythrocytic 2 1587 actin filament capping|axon guidance|cell death|vesicle-mediated transport cytosol|spectrin actin binding|structural constituent of cytoskeleton autonomic_ganglia(1)|breast(1)|central_nervous_system(4)|cervix(1)|endometrium(10)|kidney(5)|large_intestine(15)|liver(1)|lung(22)|ovary(2)|pancreas(1)|prostate(3)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1) 74 GGCTCGCAGGGCATCCTCCAG 0.632000 4 111 0 0 1 0 0 PIP 5304 broad.mit.edu 37 7 142836630 142836630 + Silent SNP C C G TCGA-IQ-A6SG-01A-12D-A34J-08 TCGA-IQ-A6SG-10A-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 09d1b40f-c5c2-49e7-bc2a-8a076ba59658 7f6c4b53-f204-4f74-a112-83d89e542313 g.chr7:142836630C>G ENST00000291009.3 + 4 376 c.336C>G c.(334-336)gcC>gcG p.A112A NM_002652.2 NP_002643.1 P12273 PIP_HUMAN prolactin-induced protein 112 extracellular region actin binding p.A112A(1) NS(1)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(4)|lung(7)|ovary(1)|skin(1) 18 Melanoma(164;0.059) Ovarian(593;2.82e-05)|Breast(660;0.012) BRCA - Breast invasive adenocarcinoma(188;0.0026)|LUSC - Lung squamous cell carcinoma(290;0.0733)|Lung(243;0.08) AAATTGCAGCCGTCGTTGATG 0.463000 24 181 0 0 1 0 0 PCDH11X 27328 broad.mit.edu 37 X 91133749 91133749 + Missense_Mutation SNP G G A TCGA-IQ-A6SG-01A-12D-A34J-08 TCGA-IQ-A6SG-10A-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 09d1b40f-c5c2-49e7-bc2a-8a076ba59658 7f6c4b53-f204-4f74-a112-83d89e542313 g.chrX:91133749G>A ENST00000373094.1 + 2 3355 c.2510G>A c.(2509-2511)cGc>cAc p.R837H PCDH11X_ENST00000395337.2_Missense_Mutation_p.R837H|PCDH11X_ENST00000373088.1_Missense_Mutation_p.R837H|PCDH11X_ENST00000504220.1_Missense_Mutation_p.R837H|PCDH11X_ENST00000298274.8_Missense_Mutation_p.R837H|PCDH11X_ENST00000373097.1_Missense_Mutation_p.R837H|PCDH11X_ENST00000406881.1_Missense_Mutation_p.R837H|PCDH11X_ENST00000361724.1_Missense_Mutation_p.R837H|PCDH11X_ENST00000361655.2_Missense_Mutation_p.R837H NM_032968.3 NP_116750.1 Q9BZA7 PC11X_HUMAN protocadherin 11 X-linked 837 homophilic cell adhesion integral to plasma membrane calcium ion binding NS(1)|autonomic_ganglia(1)|biliary_tract(1)|central_nervous_system(1)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(30)|liver(4)|lung(92)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(1) 159 GTAAGATGTCGCCAGGCACCA 0.448000 19 115 0 0 1 0 0 MAML2 84441 broad.mit.edu 37 11 95826425 95826425 + Missense_Mutation SNP A A G TCGA-IQ-A6SG-01A-12D-A34J-08 TCGA-IQ-A6SG-10A-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 09d1b40f-c5c2-49e7-bc2a-8a076ba59658 7f6c4b53-f204-4f74-a112-83d89e542313 g.chr11:95826425A>G ENST00000524717.1 - 2 2054 c.770T>C c.(769-771)cTg>cCg p.L257P NM_032427.1 NP_115803.1 Q8IZL2 MAML2_HUMAN mastermind-like 2 (Drosophila) 257 Notch signaling pathway|positive regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent nuclear speck transcription coactivator activity CRTC3/MAML2(26)|CRTC1/MAML2(516) breast(2)|cervix(1)|endometrium(11)|kidney(4)|large_intestine(8)|lung(12)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1) 43 Acute lymphoblastic leukemia(157;2.63e-05)|all_hematologic(158;0.00837) CATGTTAAACAGGCCATTGCC 0.478000 T """MECT1, CRTC3""" salivary gland mucoepidermoid 30 53 0 0 1 0 0 FAT4 79633 broad.mit.edu 37 4 126371057 126371057 + Silent SNP C C A TCGA-IQ-A6SG-01A-12D-A34J-08 TCGA-IQ-A6SG-10A-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 09d1b40f-c5c2-49e7-bc2a-8a076ba59658 7f6c4b53-f204-4f74-a112-83d89e542313 g.chr4:126371057C>A ENST00000394329.3 + 9 8899 c.8886C>A c.(8884-8886)tcC>tcA p.S2962S FAT4_ENST00000335110.5_Silent_p.S1260S NM_024582.4 NP_078858.4 Q6V0I7 FAT4_HUMAN FAT atypical cadherin 4 2962 Cadherin 28. homophilic cell adhesion integral to membrane|plasma membrane calcium ion binding NS(6)|autonomic_ganglia(1)|breast(4)|central_nervous_system(3)|cervix(3)|endometrium(27)|haematopoietic_and_lymphoid_tissue(3)|kidney(10)|large_intestine(93)|liver(3)|lung(120)|ovary(9)|pancreas(2)|prostate(21)|skin(31)|stomach(1)|upper_aerodigestive_tract(12)|urinary_tract(6) 355 GTAAACCTTCCTTAATTAGTG 0.333000 9 64 1.12685e-05 1.19673e-05 1 1 0 PKHD1L1 93035 broad.mit.edu 37 8 110478858 110478858 + Missense_Mutation SNP A A G TCGA-IQ-A6SG-01A-12D-A34J-08 TCGA-IQ-A6SG-10A-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 09d1b40f-c5c2-49e7-bc2a-8a076ba59658 7f6c4b53-f204-4f74-a112-83d89e542313 g.chr8:110478858A>G ENST00000378402.5 + 50 8569 c.8465A>G c.(8464-8466)cAt>cGt p.H2822R NM_177531.4 NP_803875.2 Q86WI1 PKHL1_HUMAN polycystic kidney and hepatic disease 1 (autosomal recessive)-like 1 2822 immune response cytosol|extracellular space|integral to membrane receptor activity NS(4)|breast(13)|central_nervous_system(6)|cervix(1)|endometrium(19)|kidney(17)|large_intestine(34)|lung(122)|ovary(11)|pancreas(3)|prostate(9)|skin(3)|stomach(4)|upper_aerodigestive_tract(13)|urinary_tract(4) 263 OV - Ovarian serous cystadenocarcinoma(57;9.88e-13) GACCCTTCTCATTGTACTCAG 0.438000 HNSCC(38;0.096) 5 20 0 0 1 0 0 L1CAM 3897 broad.mit.edu 37 X 153130126 153130126 + Missense_Mutation SNP G G T TCGA-IQ-A6SG-01A-12D-A34J-08 TCGA-IQ-A6SG-10A-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 09d1b40f-c5c2-49e7-bc2a-8a076ba59658 7f6c4b53-f204-4f74-a112-83d89e542313 g.chrX:153130126G>T ENST00000370060.1 - 24 3269 c.3080C>A c.(3079-3081)gCg>gAg p.A1027E L1CAM_ENST00000361699.4_Missense_Mutation_p.A1027E|L1CAM_ENST00000370057.3_Missense_Mutation_p.A1027E|L1CAM_ENST00000370055.1_Missense_Mutation_p.A1022E|L1CAM_ENST00000361981.3_Missense_Mutation_p.A1022E|L1CAM_ENST00000543994.1_Missense_Mutation_p.A1029E|L1CAM_ENST00000538883.1_Missense_Mutation_p.A1029E NM_001278116.1 NP_001265045.1 P32004 L1CAM_HUMAN L1 cell adhesion molecule 1027 Fibronectin type-III 5. axon guidance|blood coagulation|cell death|leukocyte migration integral to membrane NS(1)|breast(4)|central_nervous_system(3)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(5)|liver(1)|lung(31)|ovary(13)|pancreas(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 81 all_cancers(53;6.72e-15)|all_epithelial(53;3.19e-09)|all_lung(58;3.39e-06)|all_hematologic(71;4.25e-06)|Lung NSC(58;4.7e-06)|Acute lymphoblastic leukemia(192;6.56e-05) GTTTTCACCCGCTGTGGCTGA 0.567000 33 142 1.22384e-17 1.48377e-17 1 1 0 PAPPA2 60676 broad.mit.edu 37 1 176525772 176525772 + Missense_Mutation SNP G G A TCGA-IQ-A6SG-01A-12D-A34J-08 TCGA-IQ-A6SG-10A-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 09d1b40f-c5c2-49e7-bc2a-8a076ba59658 7f6c4b53-f204-4f74-a112-83d89e542313 g.chr1:176525772G>A ENST00000367662.3 + 2 1478 c.314G>A c.(313-315)aGc>aAc p.S105N PAPPA2_ENST00000367661.3_Missense_Mutation_p.S105N NM_020318.2 NP_064714.2 Q9BXP8 PAPP2_HUMAN pappalysin 2 105 cell differentiation|proteolysis|regulation of cell growth extracellular region|intracellular|membrane metalloendopeptidase activity|zinc ion binding NS(3)|breast(3)|central_nervous_system(7)|cervix(5)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(19)|lung(136)|ovary(7)|pancreas(1)|prostate(4)|skin(10)|upper_aerodigestive_tract(8)|urinary_tract(1) 226 AATGCTGTGAGCCTTGTTCCC 0.567000 23 175 0 0 1 0 0 GPX5 2880 broad.mit.edu 37 6 28499613 28499613 + Silent SNP C C A TCGA-IQ-A6SG-01A-12D-A34J-08 TCGA-IQ-A6SG-10A-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 09d1b40f-c5c2-49e7-bc2a-8a076ba59658 7f6c4b53-f204-4f74-a112-83d89e542313 g.chr6:28499613C>A ENST00000412168.2 + 3 389 c.300C>A c.(298-300)ccC>ccA p.P100P GPX5_ENST00000442674.2_3'UTR|GPX5_ENST00000469384.1_Intron NM_001509.2 NP_001500.1 O75715 GPX5_HUMAN glutathione peroxidase 5 (epididymal androgen-related protein) 100 lipid metabolic process|response to oxidative stress extracellular region glutathione peroxidase activity endometrium(2)|large_intestine(4)|lung(7)|prostate(1)|skin(1)|upper_aerodigestive_tract(1) 16 Glutathione(DB00143) TGGGCTTTCCCTGCAACCAAT 0.468000 80 233 1.10345e-40 1.39975e-40 1 1 0 SLC6A17 388662 broad.mit.edu 37 1 110716721 110716721 + Splice_Site SNP G G A TCGA-IQ-A6SG-01A-12D-A34J-08 TCGA-IQ-A6SG-10A-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 09d1b40f-c5c2-49e7-bc2a-8a076ba59658 7f6c4b53-f204-4f74-a112-83d89e542313 g.chr1:110716721G>A ENST00000331565.4 + 4 1056 c.571_splice c.e4+1 p.V191_splice NM_001010898.2 NP_001010898.1 Q9H1V8 S6A17_HUMAN solute carrier family 6 (neutral amino acid transporter), member 17 191 alanine transport|glycine transport|leucine transport|proline transport cell junction|integral to plasma membrane|synaptic vesicle membrane neurotransmitter:sodium symporter activity breast(1)|endometrium(4)|kidney(4)|large_intestine(8)|lung(13)|ovary(1)|pancreas(1)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1) 37 all_cancers(81;9.9e-06)|all_epithelial(167;3.24e-06)|all_lung(203;0.000116)|Lung NSC(277;0.000233) Lung(183;0.0282)|Epithelial(280;0.0372)|all cancers(265;0.0378)|Colorectal(144;0.0438)|LUSC - Lung squamous cell carcinoma(189;0.151)|COAD - Colon adenocarcinoma(174;0.151) GAGCGTGGCAGGCAAGTATGG 0.547000 16 43 0 0 1 0 0 NLRC4 58484 broad.mit.edu 37 2 32460556 32460556 + Missense_Mutation SNP A A G TCGA-IQ-A6SG-01A-12D-A34J-08 TCGA-IQ-A6SG-10A-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 09d1b40f-c5c2-49e7-bc2a-8a076ba59658 7f6c4b53-f204-4f74-a112-83d89e542313 g.chr2:32460556A>G ENST00000404025.2 - 9 3184 c.2696T>C c.(2695-2697)cTg>cCg p.L899P NLRC4_ENST00000360906.5_Missense_Mutation_p.L899P|NLRC4_ENST00000342905.6_Missense_Mutation_p.L234P|NLRC4_ENST00000402280.1_Missense_Mutation_p.L899P Q9NPP4 NLRC4_HUMAN NLR family, CARD domain containing 4 899 activation of caspase activity|defense response to bacterium|detection of bacterium|interleukin-1 beta secretion|positive regulation of apoptosis cytoplasm ATP binding|magnesium ion binding|protein homodimerization activity breast(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(6)|lung(1)|ovary(3)|skin(2)|stomach(2) 16 Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.208) ATGTTTCAACAGGCTGCTCAG 0.498000 139 67 0 0 1 0 0 DUSP22 56940 broad.mit.edu 37 6 348269 348269 + Missense_Mutation SNP C C A TCGA-IQ-A6SG-01A-12D-A34J-08 TCGA-IQ-A6SG-10A-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 09d1b40f-c5c2-49e7-bc2a-8a076ba59658 7f6c4b53-f204-4f74-a112-83d89e542313 g.chr6:348269C>A ENST00000604971.1 + 3 1234 c.121C>A c.(121-123)Cat>Aat p.H41N DUSP22_ENST00000419235.2_Missense_Mutation_p.H144N|DUSP22_ENST00000603453.1_Missense_Mutation_p.H41N|DUSP22_ENST00000605315.1_Missense_Mutation_p.H41N|DUSP22_ENST00000344450.5_Missense_Mutation_p.H144N|DUSP22_ENST00000605035.1_Missense_Mutation_p.H41N|DUSP22_ENST00000605863.1_Missense_Mutation_p.H41N Q9NRW4 DUS22_HUMAN dual specificity phosphatase 22 144 apoptosis|cell proliferation|inactivation of MAPK activity|multicellular organismal development|positive regulation of JNK cascade|regulation of cell proliferation|transforming growth factor beta receptor signaling pathway cytoplasm|nucleus protein tyrosine phosphatase activity|protein tyrosine/serine/threonine phosphatase activity central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(16)|ovary(1)|skin(2) 26 all_hematologic(77;0.228) Breast(5;0.0249)|all_hematologic(90;0.0489) OV - Ovarian serous cystadenocarcinoma(45;0.0277)|BRCA - Breast invasive adenocarcinoma(62;0.0669) GCATGAGGTCCATCAGGTAAG 0.582000 11 80 3.07112e-06 3.31294e-06 1 1 0 ATRN 8455 broad.mit.edu 37 20 3575126 3575126 + Splice_Site SNP C C A TCGA-IQ-A6SG-01A-12D-A34J-08 TCGA-IQ-A6SG-10A-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 09d1b40f-c5c2-49e7-bc2a-8a076ba59658 7f6c4b53-f204-4f74-a112-83d89e542313 g.chr20:3575126C>A ENST00000262919.5 + 20 3391 c.3322_splice c.e20-1 p.P1108_splice ATRN_ENST00000446916.2_Splice_Site_p.P1108_splice NM_139321.2 NP_647537.1 O75882 ATRN_HUMAN attractin 1108 Laminin EGF-like 1. inflammatory response extracellular space|integral to plasma membrane receptor activity|sugar binding breast(2)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(16)|lung(22)|ovary(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1) 59 TTCTCTGCAGCATGCAAGTGC 0.473000 3 31 0.004672 0.00470635 1 1 0 HIST1H2BO 8348 broad.mit.edu 37 6 27861564 27861564 + Silent SNP C C T TCGA-IQ-A6SG-01A-12D-A34J-08 TCGA-IQ-A6SG-10A-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 09d1b40f-c5c2-49e7-bc2a-8a076ba59658 7f6c4b53-f204-4f74-a112-83d89e542313 g.chr6:27861564C>T ENST00000303806.4 + 1 362 c.324C>T c.(322-324)gcC>gcT p.A108A NM_003527.4 NP_003518.2 P23527 H2B1O_HUMAN histone cluster 1, H2bo 108 nucleosome assembly nucleosome|nucleus DNA binding GGGAGCTGGCCAAGCACGCCG 0.637000 6 91 0 0 1 0 0 TP53 7157 broad.mit.edu 37 17 7577094 7577094 + Missense_Mutation SNP G G A rs28934574 TCGA-IQ-A6SG-01A-12D-A34J-08 TCGA-IQ-A6SG-10A-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 09d1b40f-c5c2-49e7-bc2a-8a076ba59658 7f6c4b53-f204-4f74-a112-83d89e542313 g.chr17:7577094G>A ENST00000420246.2 - 8 976 c.844C>T c.(844-846)Cgg>Tgg p.R282W TP53_ENST00000269305.4_Missense_Mutation_p.R282W|TP53_ENST00000413465.2_Intron|TP53_ENST00000359597.4_Missense_Mutation_p.R282W|TP53_ENST00000445888.2_Missense_Mutation_p.R282W|TP53_ENST00000455263.2_Missense_Mutation_p.R282W NM_001126114.2|NM_001276696.1 NP_001119586.1|NP_001263625.1 P04637 P53_HUMAN tumor protein p53 282 Interaction with AXIN1 (By similarity).|Interaction with E4F1.|Interaction with HIPK1 (By similarity). DR -> EW (in sporadic cancers; somatic mutation).|R -> G (in LFS; germline mutation and in sporadic cancers; somatic mutation).|R -> H (in a sporadic cancer; somatic mutation).|R -> L (in sporadic cancers; somatic mutation).|R -> P (in sporadic cancers; somatic mutation).|R -> Q (in a familial cancer not matching LFS; germline mutation and in sporadic cancers; somatic mutation).|R -> W (in LFS; germline mutation and in sporadic cancers; somatic mutation; dbSNP:rs28934574). 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.R282W(401)|p.R282G(29)|p.0?(8)|p.R282fs*24(4)|p.R282R(3)|p.?(2)|p.D281fs*63(2)|p.D281_R282>EW(2)|p.A276_R283delACPGRDRR(1)|p.D281_R282insXX(1)|p.C275fs*20(1)|p.R282_E287delRRTEEE(1)|p.L265_K305del41(1)|p.D281_R282delDR(1)|p.G279fs*59(1)|p.R280fs*62(1)|p.S269fs*21(1)|p.R282fs*63(1)|p.V272_K292del21(1)|p.C275_R283delCACPGRDRR(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) TCTGTGCGCCGGTCTCTCCCA 0.557000 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) 9 12 0 0 1 0 0 STAB2 55576 broad.mit.edu 37 12 104131454 104131454 + Missense_Mutation SNP C C T TCGA-IQ-A6SG-01A-12D-A34J-08 TCGA-IQ-A6SG-10A-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 09d1b40f-c5c2-49e7-bc2a-8a076ba59658 7f6c4b53-f204-4f74-a112-83d89e542313 g.chr12:104131454C>T ENST00000388887.2 + 53 5797 c.5593C>T c.(5593-5595)Cgg>Tgg p.R1865W NM_017564.9 NP_060034.9 Q8WWQ8 STAB2_HUMAN stabilin 2 1865 FAS1 6. angiogenesis|cell adhesion|defense response to bacterium|receptor-mediated endocytosis cytoplasm|external side of plasma membrane|integral to plasma membrane Gram-negative bacterial cell surface binding|hyaluronic acid binding|low-density lipoprotein receptor activity|protein disulfide oxidoreductase activity|scavenger receptor activity NS(4)|breast(7)|central_nervous_system(1)|cervix(1)|endometrium(15)|kidney(11)|large_intestine(26)|lung(77)|ovary(10)|pancreas(1)|prostate(5)|skin(14)|stomach(2) 174 AATTGTGCAGCGGGAGCTCTT 0.483000 15 81 0 0 1 0 0 TRIM55 84675 broad.mit.edu 37 8 67062073 67062073 + Missense_Mutation SNP T T C TCGA-IQ-A6SG-01A-12D-A34J-08 TCGA-IQ-A6SG-10A-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 09d1b40f-c5c2-49e7-bc2a-8a076ba59658 7f6c4b53-f204-4f74-a112-83d89e542313 g.chr8:67062073T>C ENST00000315962.4 + 5 1170 c.797T>C c.(796-798)aTt>aCt p.I266T TRIM55_ENST00000353317.5_Missense_Mutation_p.I266T|TRIM55_ENST00000276573.7_Missense_Mutation_p.I266T|TRIM55_ENST00000350034.4_Intron NM_184085.1 NP_908973.1 Q9BYV6 TRI55_HUMAN tripartite motif containing 55 266 cytoplasm|microtubule|nucleus signal transducer activity|zinc ion binding breast(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|lung(13)|ovary(1)|prostate(2)|skin(6)|upper_aerodigestive_tract(2) 39 Lung NSC(129;0.138)|all_lung(136;0.221) Epithelial(68;0.0136)|all cancers(69;0.0582)|BRCA - Breast invasive adenocarcinoma(89;0.0628)|OV - Ovarian serous cystadenocarcinoma(28;0.0904) GAGTCAGGAATTCAGTTTATG 0.418000 19 95 0 0 1 0 0 OR4K13 390433 broad.mit.edu 37 14 20502685 20502685 + Missense_Mutation SNP G G A TCGA-IQ-A6SG-01A-12D-A34J-08 TCGA-IQ-A6SG-10A-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 09d1b40f-c5c2-49e7-bc2a-8a076ba59658 7f6c4b53-f204-4f74-a112-83d89e542313 g.chr14:20502685G>A ENST00000315693.2 - 1 234 c.233C>T c.(232-234)aCc>aTc p.T78I NM_001004714.1 NP_001004714.1 Q8NH42 OR4KD_HUMAN olfactory receptor, family 4, subfamily K, member 13 78 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity endometrium(3)|kidney(1)|large_intestine(2)|lung(11)|ovary(3)|skin(4) 24 all_cancers(95;0.00108) Epithelial(56;4.65e-07)|all cancers(55;2.9e-06) GBM - Glioblastoma multiforme(265;0.0064) CATCTTAGGGGTAGCAAAAGA 0.458000 20 52 0 0 1 0 0 ITM2A 9452 broad.mit.edu 37 X 78616623 78616623 + Missense_Mutation SNP T T G TCGA-IQ-A6SG-01A-12D-A34J-08 TCGA-IQ-A6SG-10A-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 09d1b40f-c5c2-49e7-bc2a-8a076ba59658 7f6c4b53-f204-4f74-a112-83d89e542313 g.chrX:78616623T>G ENST00000434584.2 - 5 959 c.623A>C c.(622-624)aAc>aCc p.N208T ITM2A_ENST00000373298.2_Missense_Mutation_p.N252T|ITM2A_ENST00000469541.1_5'UTR NM_001171581.1 NP_001165052.1 O43736 ITM2A_HUMAN integral membrane protein 2A 252 BRICHOS. integral to membrane protein binding breast(1)|kidney(1)|large_intestine(1)|lung(10)|ovary(1)|skin(3)|upper_aerodigestive_tract(1) 18 AATAAATTCGTTGGGGAAGTG 0.353000 6 61 0 0 1 0 0 CXorf22 170063 broad.mit.edu 37 X 35989810 35989810 + Missense_Mutation SNP C C T TCGA-IQ-A6SG-01A-12D-A34J-08 TCGA-IQ-A6SG-10A-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 09d1b40f-c5c2-49e7-bc2a-8a076ba59658 7f6c4b53-f204-4f74-a112-83d89e542313 g.chrX:35989810C>T ENST00000297866.5 + 12 2144 c.2078C>T c.(2077-2079)gCa>gTa p.A693V NM_152632.3 NP_689845.2 Q6ZTR5 CX022_HUMAN chromosome X open reading frame 22 693 breast(2)|central_nervous_system(2)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(9)|lung(18)|ovary(1)|pancreas(1)|upper_aerodigestive_tract(3) 44 CTGTCTTCAGCAGCAAATTCA 0.433000 5 33 0 0 1 0 0 ADCK3 56997 broad.mit.edu 37 1 227174271 227174271 + Missense_Mutation SNP G G A TCGA-IQ-A6SG-01A-12D-A34J-08 TCGA-IQ-A6SG-10A-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 09d1b40f-c5c2-49e7-bc2a-8a076ba59658 7f6c4b53-f204-4f74-a112-83d89e542313 g.chr1:227174271G>A ENST00000366779.1 + 20 4548 c.1777G>A c.(1777-1779)Gtc>Atc p.V593I ADCK3_ENST00000478406.1_3'UTR|ADCK3_ENST00000366778.1_Missense_Mutation_p.V541I|ADCK3_ENST00000366777.3_Missense_Mutation_p.V593I|ADCK3_ENST00000433743.2_Missense_Mutation_p.V267I|ADCK3_ENST00000366775.1_Missense_Mutation_p.V438I|ADCK3_ENST00000366776.1_Missense_Mutation_p.V518I|ADCK3_ENST00000458507.2_Missense_Mutation_p.V314I Q8NI60 ADCK3_HUMAN aarF domain containing kinase 3 593 cell death mitochondrion ATP binding|protein serine/threonine kinase activity endometrium(1)|kidney(2)|large_intestine(1)|prostate(1)|skin(1)|stomach(1)|urinary_tract(2) 9 CCTGATTCCCGTCATGCTGAG 0.592000 19 48 0 0 1 0 0 NME8 51314 broad.mit.edu 37 7 37890314 37890314 + Missense_Mutation SNP G G T TCGA-IQ-A6SG-01A-12D-A34J-08 TCGA-IQ-A6SG-10A-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 09d1b40f-c5c2-49e7-bc2a-8a076ba59658 7f6c4b53-f204-4f74-a112-83d89e542313 g.chr7:37890314G>T ENST00000199447.4 + 5 547 c.175G>T c.(175-177)Gac>Tac p.D59Y EPDR1_ENST00000476620.1_Intron|NME8_ENST00000440017.1_Missense_Mutation_p.D59Y NM_016616.4 NP_057700.3 Q8N427 TXND3_HUMAN NME/NM23 family member 8 59 Thioredoxin. cell differentiation|cell redox homeostasis|CTP biosynthetic process|GTP biosynthetic process|multicellular organismal development|spermatogenesis|UTP biosynthetic process cytoplasm|microtubule cytoskeleton ATP binding|nucleoside diphosphate kinase activity ACTGAACGAAGACGAAATTCT 0.318000 20 131 0.000132079 0.000136051 1 1 0 TLL1 7092 broad.mit.edu 37 4 166935659 166935659 + Missense_Mutation SNP C C A TCGA-IQ-A6SG-01A-12D-A34J-08 TCGA-IQ-A6SG-10A-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 09d1b40f-c5c2-49e7-bc2a-8a076ba59658 7f6c4b53-f204-4f74-a112-83d89e542313 g.chr4:166935659C>A ENST00000061240.2 + 8 1636 c.989C>A c.(988-990)aCc>aAc p.T330N TLL1_ENST00000507499.1_Missense_Mutation_p.T330N|TLL1_ENST00000513213.1_Missense_Mutation_p.T330N NM_012464.4 NP_036596.3 O43897 TLL1_HUMAN tolloid-like 1 330 Metalloprotease (By similarity). cell differentiation|proteolysis|skeletal system development extracellular region calcium ion binding|metalloendopeptidase activity|zinc ion binding NS(1)|breast(1)|central_nervous_system(1)|endometrium(7)|kidney(4)|large_intestine(21)|lung(26)|ovary(2)|prostate(5)|skin(6)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 77 all_hematologic(180;0.221) Melanoma(52;0.0315)|Prostate(90;0.0405) GBM - Glioblastoma multiforme(119;0.103) GGTCAGCGAACCCGTCTAAGC 0.463000 5 213 0.000602214 0.000615697 1 1 0 CDH3 1001 broad.mit.edu 37 16 68710361 68710361 + Silent SNP C C T TCGA-IQ-A6SG-01A-12D-A34J-08 TCGA-IQ-A6SG-10A-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 09d1b40f-c5c2-49e7-bc2a-8a076ba59658 7f6c4b53-f204-4f74-a112-83d89e542313 g.chr16:68710361C>T ENST00000264012.4 + 3 778 c.234C>T c.(232-234)ggC>ggT p.G78G CDH3_ENST00000581171.1_Silent_p.G23G|CDH3_ENST00000429102.2_Silent_p.G78G NM_001793.4 NP_001784.2 P22223 CADH3_HUMAN cadherin 3, type 1, P-cadherin (placental) 78 adherens junction organization|cell junction assembly|homophilic cell adhesion|response to stimulus|visual perception integral to membrane calcium ion binding p.?(2) NS(1)|breast(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(4)|ovary(3)|skin(1)|urinary_tract(1) 25 Ovarian(137;0.0564) OV - Ovarian serous cystadenocarcinoma(108;0.000782)|Epithelial(162;0.0054)|all cancers(182;0.0384) TGCGGAATGGCGAGACAGTCC 0.517000 11 45 0 0 1 0 0 LRRK2 120892 broad.mit.edu 37 12 40651059 40651059 + Missense_Mutation SNP G G A TCGA-IQ-A6SG-01A-12D-A34J-08 TCGA-IQ-A6SG-10A-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 09d1b40f-c5c2-49e7-bc2a-8a076ba59658 7f6c4b53-f204-4f74-a112-83d89e542313 g.chr12:40651059G>A ENST00000298910.7 + 12 1356 c.1298G>A c.(1297-1299)aGa>aAa p.R433K LRRK2_ENST00000343742.2_Missense_Mutation_p.R433K NM_198578.3 NP_940980.3 Q5S007 LRRK2_HUMAN leucine-rich repeat kinase 2 433 activation of MAPKK activity|determination of adult lifespan|exploration behavior|intracellular distribution of mitochondria|negative regulation of branching morphogenesis of a nerve|negative regulation of dendritic spine morphogenesis|negative regulation of neuroblast proliferation|negative regulation of neuron maturation|neuromuscular junction development|neuron death|peptidyl-serine phosphorylation|positive regulation of autophagy|positive regulation of dopamine receptor signaling pathway|positive regulation of programmed cell death|positive regulation of proteasomal ubiquitin-dependent protein catabolic process|positive regulation of protein phosphorylation|positive regulation of protein ubiquitination|protein autophosphorylation|regulation of kidney size|regulation of locomotion|regulation of membrane potential|response to oxidative stress|small GTPase mediated signal transduction|tangential migration from the subventricular zone to the olfactory bulb external side of mitochondrial outer membrane ATP binding|GTP binding|GTP-dependent protein kinase activity|GTPase activator activity|MAP kinase kinase activity|protein homodimerization activity|tubulin binding NS(3)|biliary_tract(1)|breast(6)|central_nervous_system(2)|cervix(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(1)|kidney(23)|large_intestine(31)|lung(55)|ovary(15)|pancreas(2)|prostate(4)|skin(4)|stomach(9)|upper_aerodigestive_tract(7)|urinary_tract(2) 181 all_cancers(12;0.00108)|Breast(8;0.218) Lung NSC(34;0.0942)|all_lung(34;0.11) GTTAATTTCAGAAAAATACTG 0.274000 33 64 0 0 1 0 0 ZNF107 51427 broad.mit.edu 37 7 64167752 64167752 + Missense_Mutation SNP A A T TCGA-IQ-A6SG-01A-12D-A34J-08 TCGA-IQ-A6SG-10A-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 09d1b40f-c5c2-49e7-bc2a-8a076ba59658 7f6c4b53-f204-4f74-a112-83d89e542313 g.chr7:64167752A>T ENST00000395391.1 + 4 2445 c.1070A>T c.(1069-1071)aAa>aTa p.K357I ZNF107_ENST00000344930.3_Missense_Mutation_p.K357I|ZNF107_ENST00000423627.1_Missense_Mutation_p.K357I Q9UII5 ZN107_HUMAN zinc finger protein 107 357 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding breast(1)|central_nervous_system(1)|cervix(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(10)|lung(18)|ovary(1)|stomach(1) 37 Lung NSC(55;0.00948)|all_lung(88;0.0249) AAACCCTACAAATGTAAAGAA 0.348000 23 41 0 0 1 0 0 MRPL2 51069 broad.mit.edu 37 6 43023876 43023876 + Missense_Mutation SNP C C T TCGA-IQ-A6SG-01A-12D-A34J-08 TCGA-IQ-A6SG-10A-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 09d1b40f-c5c2-49e7-bc2a-8a076ba59658 7f6c4b53-f204-4f74-a112-83d89e542313 g.chr6:43023876C>T ENST00000388752.3 - 4 887 c.463G>A c.(463-465)Gaa>Aaa p.E155K MRPL2_ENST00000489623.1_Intron|MRPL2_ENST00000230413.5_Missense_Mutation_p.E155K NM_015950.3 NP_057034.2 Q5T653 RM02_HUMAN mitochondrial ribosomal protein L2 155 translation mitochondrion|ribosome structural constituent of ribosome breast(1)|endometrium(2)|kidney(3)|large_intestine(1)|lung(2) 9 Ovarian(999;0.0014) Colorectal(64;0.00237)|COAD - Colon adenocarcinoma(64;0.00473)|all cancers(41;0.00708)|OV - Ovarian serous cystadenocarcinoma(102;0.0442) BRCA - Breast invasive adenocarcinoma(397;0.0026) TGCATGTTTTCTGTGGCGATG 0.547000 12 94 0 0 1 0 0 ENPP1 5167 broad.mit.edu 37 6 132198300 132198300 + Splice_Site SNP C C T TCGA-IQ-A6SG-01A-12D-A34J-08 TCGA-IQ-A6SG-10A-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 09d1b40f-c5c2-49e7-bc2a-8a076ba59658 7f6c4b53-f204-4f74-a112-83d89e542313 g.chr6:132198300C>T ENST00000360971.2 + 18 1912 c.1893_splice c.e18+1 p.S631_splice NM_006208.2 NP_006199.2 P22413 ENPP1_HUMAN ectonucleotide pyrophosphatase/phosphodiesterase 1 631 3'-phosphoadenosine 5'-phosphosulfate metabolic process|biomineral tissue development|cellular phosphate ion homeostasis|cellular response to insulin stimulus|generation of precursor metabolites and energy|immune response|inorganic diphosphate transport|negative regulation of cell growth|negative regulation of fat cell differentiation|negative regulation of glucose import|negative regulation of glycogen biosynthetic process|negative regulation of insulin receptor signaling pathway|negative regulation of protein autophosphorylation|nucleoside triphosphate catabolic process|phosphate metabolic process|sequestering of triglyceride|water-soluble vitamin metabolic process basolateral plasma membrane|cell surface|extracellular space|integral to membrane ATP binding|insulin receptor binding|metal ion binding|nucleic acid binding|nucleoside-triphosphate diphosphatase activity|nucleotide diphosphatase activity|phosphodiesterase I activity|polysaccharide binding|protein homodimerization activity|scavenger receptor activity autonomic_ganglia(1)|breast(2)|endometrium(1)|kidney(3)|large_intestine(8)|lung(22)|ovary(2)|prostate(2)|skin(3)|upper_aerodigestive_tract(2) 46 Breast(56;0.0505) GBM - Glioblastoma multiforme(226;0.0216)|OV - Ovarian serous cystadenocarcinoma(155;0.022) Amifostine(DB01143)|Ribavirin(DB00811) TGTAACCCTTCGGTAAGTATC 0.428000 5 23 0 0 1 0 0 AHNAK2 113146 broad.mit.edu 37 14 105407146 105407146 + Missense_Mutation SNP T T C TCGA-IQ-A6SG-01A-12D-A34J-08 TCGA-IQ-A6SG-10A-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 09d1b40f-c5c2-49e7-bc2a-8a076ba59658 7f6c4b53-f204-4f74-a112-83d89e542313 g.chr14:105407146T>C ENST00000333244.5 - 7 14761 c.14642A>G c.(14641-14643)gAg>gGg p.E4881G AHNAK2_ENST00000557457.1_Intron NM_138420.2 NP_612429.2 Q8IVF2 AHNK2_HUMAN AHNAK nucleoprotein 2 4881 nucleus cervix(4)|endometrium(4)|large_intestine(3)|lung(14)|ovary(2)|prostate(2)|skin(1)|stomach(3) 33 all_cancers(154;0.115)|Melanoma(154;0.155)|all_epithelial(191;0.183) all cancers(16;0.000479)|OV - Ovarian serous cystadenocarcinoma(23;0.00659)|Epithelial(46;0.0151)|GBM - Glioblastoma multiforme(11;0.116) TAGGTCTCCCTCAGGAACTGC 0.502000 10 41 0 0 1 0 0 EPX 8288 broad.mit.edu 37 17 56281637 56281637 + Missense_Mutation SNP C C A TCGA-IQ-A6SG-01A-12D-A34J-08 TCGA-IQ-A6SG-10A-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 09d1b40f-c5c2-49e7-bc2a-8a076ba59658 7f6c4b53-f204-4f74-a112-83d89e542313 g.chr17:56281637C>A ENST00000225371.5 + 12 2111 c.2001C>A c.(1999-2001)agC>agA p.S667R NM_000502.4 NP_000493.1 P11678 PERE_HUMAN eosinophil peroxidase 667 hydrogen peroxide catabolic process heme binding|peroxidase activity|protein binding breast(2)|endometrium(9)|kidney(1)|large_intestine(9)|liver(2)|lung(20)|ovary(2)|prostate(2)|upper_aerodigestive_tract(1) 48 AGGCCCTGAGCAGAATTTCCT 0.502000 17 109 9.7654e-05 0.000101353 1 1 0 PAPPA2 60676 broad.mit.edu 37 1 176525773 176525773 + Silent SNP C C T TCGA-IQ-A6SG-01A-12D-A34J-08 TCGA-IQ-A6SG-10A-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 09d1b40f-c5c2-49e7-bc2a-8a076ba59658 7f6c4b53-f204-4f74-a112-83d89e542313 g.chr1:176525773C>T ENST00000367662.3 + 2 1479 c.315C>T c.(313-315)agC>agT p.S105S PAPPA2_ENST00000367661.3_Silent_p.S105S NM_020318.2 NP_064714.2 Q9BXP8 PAPP2_HUMAN pappalysin 2 105 cell differentiation|proteolysis|regulation of cell growth extracellular region|intracellular|membrane metalloendopeptidase activity|zinc ion binding NS(3)|breast(3)|central_nervous_system(7)|cervix(5)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(19)|lung(136)|ovary(7)|pancreas(1)|prostate(4)|skin(10)|upper_aerodigestive_tract(8)|urinary_tract(1) 226 ATGCTGTGAGCCTTGTTCCCC 0.567000 23 176 0 0 1 0 0 SFI1 9814 broad.mit.edu 37 22 32007791 32007791 + Missense_Mutation SNP C C A TCGA-IQ-A6SG-01A-12D-A34J-08 TCGA-IQ-A6SG-10A-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 09d1b40f-c5c2-49e7-bc2a-8a076ba59658 7f6c4b53-f204-4f74-a112-83d89e542313 g.chr22:32007791C>A ENST00000432498.1 + 23 2755 c.2362C>A c.(2362-2364)Ctc>Atc p.L788I SFI1_ENST00000540643.1_Missense_Mutation_p.L764I|SFI1_ENST00000400288.2_Missense_Mutation_p.L819I|SFI1_ENST00000400289.1_Missense_Mutation_p.L737I|SFI1_ENST00000443326.1_Missense_Mutation_p.L737I|SFI1_ENST00000443011.1_Missense_Mutation_p.L666I|SFI1_ENST00000414585.1_Missense_Mutation_p.L666I NM_014775.3 NP_055590.2 A8K8P3 SFI1_HUMAN Sfi1 homolog, spindle assembly associated (yeast) 819 G2/M transition of mitotic cell cycle centriole|cytosol NS(2)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(5)|large_intestine(7)|liver(1)|lung(11)|ovary(1)|prostate(3)|upper_aerodigestive_tract(3) 38 GGCACAGAGACTCAGCCGGAC 0.637000 4 26 0.014758 0.014758 1 1 0 HAL 3034 broad.mit.edu 37 12 96384170 96384170 + Splice_Site SNP C C G TCGA-IQ-A6SG-01A-12D-A34J-08 TCGA-IQ-A6SG-10A-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 09d1b40f-c5c2-49e7-bc2a-8a076ba59658 7f6c4b53-f204-4f74-a112-83d89e542313 g.chr12:96384170C>G ENST00000261208.3 - 10 1224 c.e10+1 HAL_ENST00000538703.1_Splice_Site|HAL_ENST00000541929.1_Splice_Site|HAL_ENST00000551562.1_Splice_Site NM_002108.3 NP_002099.1 P42357 HUTH_HUMAN histidine ammonia-lyase biosynthetic process|histidine catabolic process cytosol histidine ammonia-lyase activity NS(2)|breast(1)|central_nervous_system(2)|endometrium(6)|kidney(1)|large_intestine(8)|lung(8)|ovary(2)|pancreas(1)|prostate(1)|skin(2) 34 L-Histidine(DB00117) ACGAGTCTTACGTATTTAGCA 0.522000 30 51 0 0 1 0 0 NBPF10 100132406 broad.mit.edu 37 1 145367739 145367739 + Silent SNP A A G rs146714035 by1000genomes TCGA-IQ-A6SG-01A-12D-A34J-08 TCGA-IQ-A6SG-10A-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 09d1b40f-c5c2-49e7-bc2a-8a076ba59658 7f6c4b53-f204-4f74-a112-83d89e542313 g.chr1:145367739A>G ENST00000342960.5 + 83 10370 c.10335A>G c.(10333-10335)aaA>aaG p.K3445K NBPF10_ENST00000369338.1_Intron|NBPF10_ENST00000369339.2_Intron NM_001039703.4 NP_001034792.4 A6NDV3 A6NDV3_HUMAN neuroblastoma breakpoint family, member 10 3445 p.K3445K(4) 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) ggaaggggaaaaaaagaaggg 0.413000 7 150 0 0 1 0 0 NLRP10 338322 broad.mit.edu 37 11 7982173 7982173 + Missense_Mutation SNP G G A TCGA-IQ-A6SG-01A-12D-A34J-08 TCGA-IQ-A6SG-10A-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 09d1b40f-c5c2-49e7-bc2a-8a076ba59658 7f6c4b53-f204-4f74-a112-83d89e542313 g.chr11:7982173G>A ENST00000328600.2 - 2 1147 c.986C>T c.(985-987)aCg>aTg p.T329M NM_176821.3 NP_789791.1 Q86W26 NAL10_HUMAN NLR family, pyrin domain containing 10 329 NACHT. ATP binding breast(1)|endometrium(2)|kidney(2)|large_intestine(8)|liver(1)|lung(28)|ovary(2)|pancreas(1)|prostate(2)|skin(8)|upper_aerodigestive_tract(1)|urinary_tract(2) 58 Epithelial(150;1.47e-07)|BRCA - Breast invasive adenocarcinoma(625;0.189) CTTCTCATCCGTGAAATAGGA 0.507000 39 105 0 0 1 0 0 MUC17 140453 broad.mit.edu 37 7 100680623 100680623 + Missense_Mutation SNP C C T TCGA-IQ-A6SG-01A-12D-A34J-08 TCGA-IQ-A6SG-10A-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 09d1b40f-c5c2-49e7-bc2a-8a076ba59658 7f6c4b53-f204-4f74-a112-83d89e542313 g.chr7:100680623C>T ENST00000306151.4 + 3 5990 c.5926C>T c.(5926-5928)Cca>Tca p.P1976S NM_001040105.1 NP_001035194.1 Q685J3 MUC17_HUMAN mucin 17, cell surface associated 1976 59 X approximate tandem repeats.|Ser-rich. extracellular region|integral to membrane|plasma membrane extracellular matrix constituent, lubricant activity NS(3)|breast(14)|central_nervous_system(2)|cervix(2)|endometrium(27)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(28)|lung(179)|ovary(19)|pancreas(1)|prostate(13)|skin(26)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(4) 343 Lung NSC(181;0.136)|all_lung(186;0.182) TACCAGCATGCCAACCCCAGC 0.498000 6 689 0 0 1 0 0 ANKEF1 63926 broad.mit.edu 37 20 10018979 10018979 + Silent SNP C C T TCGA-IQ-A6SG-01A-12D-A34J-08 TCGA-IQ-A6SG-10A-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 09d1b40f-c5c2-49e7-bc2a-8a076ba59658 7f6c4b53-f204-4f74-a112-83d89e542313 g.chr20:10018979C>T ENST00000378380.3 + 2 359 c.30C>T c.(28-30)aaC>aaT p.N10N SNAP25-AS1_ENST00000603542.1_RNA|ANKEF1_ENST00000488991.1_3'UTR|SNAP25-AS1_ENST00000421143.2_RNA|ANKEF1_ENST00000378392.1_Silent_p.N10N NM_198798.1 NP_942093.1 ankyrin repeat and EF-hand domain containing 1 GACTTGAGAACTTACAGATCT 0.383000 6 64 0 0 1 0 0 AHCTF1 25909 broad.mit.edu 37 1 247027358 247027358 + Silent SNP C C T TCGA-IQ-A6SG-01A-12D-A34J-08 TCGA-IQ-A6SG-10A-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 09d1b40f-c5c2-49e7-bc2a-8a076ba59658 7f6c4b53-f204-4f74-a112-83d89e542313 g.chr1:247027358C>T ENST00000366508.1 - 27 3649 c.3513G>A c.(3511-3513)caG>caA p.Q1171Q AHCTF1_ENST00000326225.3_Silent_p.Q1145Q|AHCTF1_ENST00000470300.1_5'UTR|AHCTF1_ENST00000391829.2_Silent_p.Q1136Q Q8WYP5 ELYS_HUMAN AT hook containing transcription factor 1 1136 Necessary for nuclear localization (By similarity). cytokinesis|mitotic prometaphase|mRNA transport|nuclear pore complex assembly|protein transport|transmembrane transport condensed chromosome kinetochore|cytosol|nuclear matrix|nuclear membrane|nuclear pore|nucleoplasm DNA binding NS(1)|breast(6)|cervix(3)|endometrium(8)|kidney(6)|large_intestine(12)|liver(2)|lung(21)|ovary(5)|prostate(1)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(2) 74 all_cancers(71;3.05e-05)|all_epithelial(71;6.72e-06)|Ovarian(71;0.0173)|Breast(184;0.0318)|all_lung(81;0.0458)|Lung NSC(105;0.0518) all_cancers(173;0.0266) OV - Ovarian serous cystadenocarcinoma(106;0.00271) TGGAGCTTTGCTGAATAAACT 0.453000 16 64 0 0 1 0 0 TRGC2 6967 broad.mit.edu 37 7 38288928 38288928 + RNA SNP C C T TCGA-IQ-A6SG-01A-12D-A34J-08 TCGA-IQ-A6SG-10A-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 09d1b40f-c5c2-49e7-bc2a-8a076ba59658 7f6c4b53-f204-4f74-a112-83d89e542313 g.chr7:38288928C>T ENST00000436911.2 - 0 245 TGTTCTTTGTCCAGTGACTCT 0.403000 61 92 0 0 1 0 0 ADORA3 140 broad.mit.edu 37 1 112031544 112031544 + Missense_Mutation SNP C C A TCGA-IQ-A6SG-01A-12D-A34J-08 TCGA-IQ-A6SG-10A-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 09d1b40f-c5c2-49e7-bc2a-8a076ba59658 7f6c4b53-f204-4f74-a112-83d89e542313 g.chr1:112031544C>A ENST00000369716.4 - 3 693 c.560G>T c.(559-561)tGg>tTg p.W187L ADORA3_ENST00000369717.4_Missense_Mutation_p.W106L NM_020683.6 NP_065734.5 P33765 AA3R_HUMAN adenosine A3 receptor 0 activation of adenylate cyclase activity|inflammatory response|regulation of heart contraction integral to plasma membrane adenosine receptor activity, G-protein coupled NS(1)|breast(2)|endometrium(1)|large_intestine(2)|lung(3)|ovary(2)|skin(1) 12 all_cancers(81;1.63e-06)|all_epithelial(167;5.01e-06)|all_lung(203;8.02e-05)|Lung NSC(277;0.000156) all cancers(265;0.0185)|Colorectal(144;0.0186)|Lung(183;0.0238)|COAD - Colon adenocarcinoma(174;0.0644)|Epithelial(280;0.0872)|LUSC - Lung squamous cell carcinoma(189;0.134) Adenosine(DB00640)|Aminophylline(DB01223) GCCTCGGCACCAGTATTTGGG 0.517000 14 77 9.31168e-06 9.96641e-06 1 1 0 GPLD1 2822 broad.mit.edu 37 6 24467490 24467490 + Silent SNP G G C TCGA-IQ-A6SG-01A-12D-A34J-08 TCGA-IQ-A6SG-10A-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 09d1b40f-c5c2-49e7-bc2a-8a076ba59658 7f6c4b53-f204-4f74-a112-83d89e542313 g.chr6:24467490G>C ENST00000230036.1 - 8 668 c.558C>G c.(556-558)gtC>gtG p.V186V GPLD1_ENST00000474784.1_5'UTR NM_001503.3 NP_001494.2 P80108 PHLD_HUMAN glycosylphosphatidylinositol specific phospholipase D1 186 extracellular region glycosylphosphatidylinositol phospholipase D activity breast(3)|endometrium(5)|kidney(1)|large_intestine(11)|lung(8)|ovary(2)|prostate(1)|urinary_tract(1) 32 GTAGATCTTTGACTGGCACAT 0.368000 20 56 0 0 1 0 0 AHNAK 79026 broad.mit.edu 37 11 62287002 62287002 + Missense_Mutation SNP T T C TCGA-IQ-A6SG-01A-12D-A34J-08 TCGA-IQ-A6SG-10A-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 09d1b40f-c5c2-49e7-bc2a-8a076ba59658 7f6c4b53-f204-4f74-a112-83d89e542313 g.chr11:62287002T>C ENST00000378024.4 - 5 15161 c.14887A>G c.(14887-14889)Att>Gtt p.I4963V AHNAK_ENST00000257247.7_Intron|AHNAK_ENST00000530124.1_Intron NM_001620.1 NP_001611.1 Q09666 AHNK_HUMAN AHNAK nucleoprotein 4963 nervous system development nucleus protein binding NS(3)|autonomic_ganglia(1)|breast(10)|central_nervous_system(5)|endometrium(17)|haematopoietic_and_lymphoid_tissue(2)|kidney(33)|large_intestine(40)|liver(1)|lung(108)|ovary(13)|pancreas(4)|prostate(5)|skin(16)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(6) 268 Melanoma(852;0.155) TCGATGTTAATATCTGGGCTG 0.443000 43 136 0 0 1 0 0 VPS13D 55187 broad.mit.edu 37 1 12422808 12422808 + Missense_Mutation SNP A A G TCGA-IQ-A6SG-01A-12D-A34J-08 TCGA-IQ-A6SG-10A-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 09d1b40f-c5c2-49e7-bc2a-8a076ba59658 7f6c4b53-f204-4f74-a112-83d89e542313 g.chr1:12422808A>G ENST00000358136.3 + 51 10304 c.10174A>G c.(10174-10176)Att>Gtt p.I3392V VPS13D_ENST00000356315.4_Missense_Mutation_p.I3367V NM_015378.2 NP_056193.2 Q5THJ4 VP13D_HUMAN vacuolar protein sorting 13 homolog D (S. cerevisiae) 3391 protein localization NS(1)|breast(6)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(13)|large_intestine(28)|lung(44)|ovary(5)|pancreas(1)|prostate(8)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(4) 130 Ovarian(185;0.249) Lung NSC(185;4.08e-05)|all_lung(284;4.55e-05)|Renal(390;0.000147)|Colorectal(325;0.00058)|Breast(348;0.00093)|Ovarian(437;0.00965)|Hepatocellular(190;0.0202)|Myeloproliferative disorder(586;0.0255) UCEC - Uterine corpus endometrioid carcinoma (279;0.0327)|Colorectal(212;4.63e-06)|BRCA - Breast invasive adenocarcinoma(304;0.000289)|COAD - Colon adenocarcinoma(227;0.000801)|Kidney(185;0.00216)|KIRC - Kidney renal clear cell carcinoma(229;0.00544)|STAD - Stomach adenocarcinoma(313;0.012)|READ - Rectum adenocarcinoma(331;0.0476)|Lung(427;0.209) AGGTCGATACATTGATACCTG 0.413000 35 185 0 0 1 0 0 AGL 178 broad.mit.edu 37 1 100353650 100353650 + Missense_Mutation SNP A A G TCGA-IQ-A6SG-01A-12D-A34J-08 TCGA-IQ-A6SG-10A-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 09d1b40f-c5c2-49e7-bc2a-8a076ba59658 7f6c4b53-f204-4f74-a112-83d89e542313 g.chr1:100353650A>G ENST00000294724.4 + 21 3276 c.2798A>G c.(2797-2799)tAt>tGt p.Y933C AGL_ENST00000370163.3_Missense_Mutation_p.Y933C|AGL_ENST00000361915.3_Missense_Mutation_p.Y933C|AGL_ENST00000361302.3_Missense_Mutation_p.Y917C|AGL_ENST00000370165.3_Missense_Mutation_p.Y933C|AGL_ENST00000370161.2_Missense_Mutation_p.Y917C|AGL_ENST00000361522.4_Missense_Mutation_p.Y916C NM_000028.2 NP_000019.2 P35573 GDE_HUMAN amylo-alpha-1, 6-glucosidase, 4-alpha-glucanotransferase 933 glucose metabolic process|glycogen biosynthetic process|glycogen catabolic process cytosol|isoamylase complex|nucleus 4-alpha-glucanotransferase activity|amylo-alpha-1,6-glucosidase activity|cation binding NS(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(6)|large_intestine(9)|lung(35)|ovary(1)|prostate(4)|skin(3)|urinary_tract(1) 69 all_epithelial(167;2.2e-06)|all_lung(203;0.000295)|Lung NSC(277;0.00131) Epithelial(280;0.15)|COAD - Colon adenocarcinoma(174;0.151)|Lung(183;0.209)|all cancers(265;0.237) GCCCTTAAATATGCAGGTCTT 0.418000 18 41 0 0 1 0 0 ZFP62 643836 broad.mit.edu 37 5 180277793 180277793 + Silent SNP G G A TCGA-IQ-A6SG-01A-12D-A34J-08 TCGA-IQ-A6SG-10A-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 09d1b40f-c5c2-49e7-bc2a-8a076ba59658 7f6c4b53-f204-4f74-a112-83d89e542313 g.chr5:180277793G>A ENST00000359141.6 - 3 841 c.522C>T c.(520-522)ttC>ttT p.F174F ZFP62_ENST00000502412.1_Silent_p.F234F|ZFP62_ENST00000506377.1_Intron|ZFP62_ENST00000512132.1_Silent_p.F201F NM_152283.4 NP_689496.4 Q8NB50 ZFP62_HUMAN ZFP62 zinc finger protein 234 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus nucleic acid binding|zinc ion binding NS(1)|endometrium(2)|pancreas(1) 4 all_cancers(89;4.01e-05)|all_epithelial(37;4.69e-06)|Renal(175;0.000159)|Lung NSC(126;0.0027)|all_lung(126;0.00469)|Breast(19;0.114) all_cancers(40;0.00336)|Medulloblastoma(196;0.0133)|all_neural(177;0.0199)|all_hematologic(541;0.163)|Ovarian(839;0.238)|all_lung(500;0.248) Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178) AGCTATAATTGAAGGATTTTC 0.468000 3 19 0 0 1 0 0 MAGEA10 4109 broad.mit.edu 37 X 151303172 151303172 + Missense_Mutation SNP C C A TCGA-IQ-A6SG-01A-12D-A34J-08 TCGA-IQ-A6SG-10A-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 09d1b40f-c5c2-49e7-bc2a-8a076ba59658 7f6c4b53-f204-4f74-a112-83d89e542313 g.chrX:151303172C>A ENST00000370323.4 - 4 1237 c.921G>T c.(919-921)agG>agT p.R307S MAGEA10_ENST00000244096.3_Missense_Mutation_p.R307S|RP11-1007I13.4_ENST00000509345.2_RNA NM_001251828.1|NM_021048.4 NP_001238757.1|NP_066386.2 P43363 MAGAA_HUMAN melanoma antigen family A, 10 307 MAGE. endometrium(2)|kidney(2)|large_intestine(4)|lung(11)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 23 Acute lymphoblastic leukemia(192;6.56e-05) GACTCATCTTCCTAATTTCAG 0.498000 32 191 9.65021e-13 1.11099e-12 1 1 0 ABCC11 85320 broad.mit.edu 37 16 48210931 48210931 + Missense_Mutation SNP T T A TCGA-IQ-A6SG-01A-12D-A34J-08 TCGA-IQ-A6SG-10A-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 09d1b40f-c5c2-49e7-bc2a-8a076ba59658 7f6c4b53-f204-4f74-a112-83d89e542313 g.chr16:48210931T>A ENST00000394747.1 - 24 3791 c.3442A>T c.(3442-3444)Atg>Ttg p.M1148L ABCC11_ENST00000356608.2_Missense_Mutation_p.M1148L|ABCC11_ENST00000394748.1_Missense_Mutation_p.M1148L|ABCC11_ENST00000353782.5_Missense_Mutation_p.M1148L|ABCC11_ENST00000565329.1_5'UTR NM_033151.3 NP_149163.2 Q96J66 ABCCB_HUMAN ATP-binding cassette, sub-family C (CFTR/MRP), member 11 1148 ABC transporter 2. integral to membrane ATP binding|ATPase activity, coupled to transmembrane movement of substances breast(3)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(12)|lung(42)|ovary(3)|prostate(2)|skin(5)|urinary_tract(2) 83 all_cancers(37;0.127)|all_lung(18;0.132)|Breast(268;0.166) CTGTATTTCATGTGATAATCC 0.532000 44 16 0 0 1 0 0 ASH2L 9070 broad.mit.edu 37 8 37978466 37978466 + Missense_Mutation SNP G G T TCGA-IQ-A6SG-01A-12D-A34J-08 TCGA-IQ-A6SG-10A-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 09d1b40f-c5c2-49e7-bc2a-8a076ba59658 7f6c4b53-f204-4f74-a112-83d89e542313 g.chr8:37978466G>T ENST00000343823.6 + 10 1273 c.964G>T c.(964-966)Gct>Tct p.A322S ASH2L_ENST00000545394.1_Missense_Mutation_p.A183S|ASH2L_ENST00000521652.1_Missense_Mutation_p.A228S|ASH2L_ENST00000428278.2_Missense_Mutation_p.A228S|ASH2L_ENST00000250635.7_Missense_Mutation_p.A228S NM_004674.4 NP_004665.2 Q9UBL3 ASH2L_HUMAN ash2 (absent, small, or homeotic)-like (Drosophila) 322 hemopoiesis|histone H3-K4 methylation|positive regulation of cell proliferation|regulation of transcription, DNA-dependent|response to estrogen stimulus|transcription from RNA polymerase II promoter Set1C/COMPASS complex metal ion binding|protein binding|transcription regulatory region DNA binding NS(1)|endometrium(5)|kidney(2)|large_intestine(3)|lung(6)|ovary(1)|stomach(1) 19 Colorectal(12;0.000501) Lung NSC(58;0.0295)|all_lung(54;0.0413) TTTGTTTTCTGCTCAGCGCCT 0.468000 OREG0018719 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 20 44 1.50039e-11 1.69879e-11 1 1 0 HYAL1 3373 broad.mit.edu 37 3 50339652 50339652 + Missense_Mutation SNP T T C TCGA-IQ-A6SG-01A-12D-A34J-08 TCGA-IQ-A6SG-10A-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 09d1b40f-c5c2-49e7-bc2a-8a076ba59658 7f6c4b53-f204-4f74-a112-83d89e542313 g.chr3:50339652T>C ENST00000266031.4 - 1 1351 c.736A>G c.(736-738)Atc>Gtc p.I246V HYAL1_ENST00000395143.2_Missense_Mutation_p.I246V|HYAL1_ENST00000395144.2_Missense_Mutation_p.I246V|HYAL1_ENST00000447605.2_Intron|HYAL1_ENST00000457214.2_Missense_Mutation_p.I64V|HYAL1_ENST00000320295.8_Missense_Mutation_p.I246V Q12794 HYAL1_HUMAN hyaluronoglucosaminidase 1 246 extracellular space|lysosome hyalurononglucosaminidase activity cervix(1)|endometrium(2)|large_intestine(1)|lung(6)|prostate(1) 11 BRCA - Breast invasive adenocarcinoma(193;0.000272)|KIRC - Kidney renal clear cell carcinoma(197;0.00544)|Kidney(197;0.00607) Hyaluronidase(DB00070) GGCATGTAGATGCTGGGATAG 0.617000 16 17 0 0 1 0 0 CLIP1 6249 broad.mit.edu 37 12 122825429 122825429 + Silent SNP C C T TCGA-IQ-A6SG-01A-12D-A34J-08 TCGA-IQ-A6SG-10A-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 09d1b40f-c5c2-49e7-bc2a-8a076ba59658 7f6c4b53-f204-4f74-a112-83d89e542313 g.chr12:122825429C>T ENST00000358808.2 - 10 2443 c.2289G>A c.(2287-2289)ttG>ttA p.L763L CLIP1_ENST00000302528.7_Silent_p.L763L|CLIP1_ENST00000545889.1_Intron|CLIP1_ENST00000540338.1_Silent_p.L774L|CLIP1_ENST00000537178.1_Silent_p.L728L|CLIP1_ENST00000361654.4_Intron NM_001247997.1|NM_002956.2 NP_001234926.1|NP_002947.1 P30622 CLIP1_HUMAN CAP-GLY domain containing linker protein 1 774 mitotic prometaphase|positive regulation of microtubule polymerization centrosome|cytosol|endosome|intermediate filament|kinetochore nucleic acid binding|protein homodimerization activity|zinc ion binding NS(1)|breast(5)|endometrium(4)|kidney(5)|large_intestine(16)|liver(1)|lung(21)|ovary(2)|prostate(3)|upper_aerodigestive_tract(1)|urinary_tract(1) 60 all_neural(191;0.0837)|Medulloblastoma(191;0.163) OV - Ovarian serous cystadenocarcinoma(86;1.81e-05)|Epithelial(86;6.85e-05)|BRCA - Breast invasive adenocarcinoma(302;0.226) CATCAAGATCCAAGAGCTTTT 0.408000 34 134 0 0 1 0 0 CCDC67 159989 broad.mit.edu 37 11 93141395 93141395 + Splice_Site SNP A A G TCGA-IQ-A6SG-01A-12D-A34J-08 TCGA-IQ-A6SG-10A-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 09d1b40f-c5c2-49e7-bc2a-8a076ba59658 7f6c4b53-f204-4f74-a112-83d89e542313 g.chr11:93141395A>G ENST00000298050.3 + 12 1426 c.e12-1 CCDC67_ENST00000525646.1_Splice_Site NM_181645.3 NP_857596.2 Q05D60 CCD67_HUMAN coiled-coil domain containing 67 endometrium(3)|kidney(1)|large_intestine(1)|lung(10)|ovary(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 22 Acute lymphoblastic leukemia(157;2.35e-05)|all_hematologic(158;0.00824) TTTATTCTCTAGAGTATGGAC 0.353000 7 12 0 0 1 0 0 SHANK1 50944 broad.mit.edu 37 19 51219708 51219708 + Missense_Mutation SNP T T C TCGA-IQ-A6SG-01A-12D-A34J-08 TCGA-IQ-A6SG-10A-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 09d1b40f-c5c2-49e7-bc2a-8a076ba59658 7f6c4b53-f204-4f74-a112-83d89e542313 g.chr19:51219708T>C ENST00000293441.1 - 2 301 c.283A>G c.(283-285)Acc>Gcc p.T95A SHANK1_ENST00000359082.3_Missense_Mutation_p.T95A|SHANK1_ENST00000391814.1_Missense_Mutation_p.T95A NM_016148.2 NP_057232.2 Q9Y566 SHAN1_HUMAN SH3 and multiple ankyrin repeat domains 1 95 cytoskeletal anchoring at plasma membrane cell junction|cytoplasm|dendrite|membrane fraction|postsynaptic density|postsynaptic membrane ionotropic glutamate receptor binding breast(1)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(4)|kidney(5)|large_intestine(15)|liver(1)|lung(21)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(3) 64 all_neural(266;0.057) OV - Ovarian serous cystadenocarcinoma(262;0.00493)|GBM - Glioblastoma multiforme(134;0.0199) GTCCAGATGGTGGCATCGGGG 0.632000 6 39 0 0 1 0 0 SPATS2L 26010 broad.mit.edu 37 2 201305466 201305466 + Silent SNP C C A TCGA-IQ-A6SG-01A-12D-A34J-08 TCGA-IQ-A6SG-10A-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 09d1b40f-c5c2-49e7-bc2a-8a076ba59658 7f6c4b53-f204-4f74-a112-83d89e542313 g.chr2:201305466C>A ENST00000409988.3 + 8 1270 c.747C>A c.(745-747)tcC>tcA p.S249S SPATS2L_ENST00000409755.3_Silent_p.S279S|SPATS2L_ENST00000409718.1_Silent_p.S249S|SPATS2L_ENST00000360760.5_Silent_p.S180S|SPATS2L_ENST00000409385.1_Silent_p.S189S|SPATS2L_ENST00000409140.3_Silent_p.S249S|SPATS2L_ENST00000358677.4_Silent_p.S249S|SPATS2L_ENST00000409151.1_Silent_p.S257S|SPATS2L_ENST00000451764.2_Silent_p.S249S NM_001100422.1 NP_001093892.1 Q9NUQ6 SPS2L_HUMAN spermatogenesis associated, serine-rich 2-like 249 cytoplasm|nucleolus endometrium(1)|kidney(1)|lung(4)|ovary(2)|pancreas(1)|prostate(1) 10 TGGATAGTTCCGTGAAGAAGA 0.408000 17 24 6.49762e-13 7.54385e-13 1 1 0 PPFIBP2 8495 broad.mit.edu 37 11 7674313 7674313 + Missense_Mutation SNP C C T TCGA-IQ-A6SG-01A-12D-A34J-08 TCGA-IQ-A6SG-10A-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 09d1b40f-c5c2-49e7-bc2a-8a076ba59658 7f6c4b53-f204-4f74-a112-83d89e542313 g.chr11:7674313C>T ENST00000299492.4 + 24 2883 c.2495C>T c.(2494-2496)tCg>tTg p.S832L PPFIBP2_ENST00000530582.1_3'UTR|PPFIBP2_ENST00000533792.1_Missense_Mutation_p.S674L|PPFIBP2_ENST00000528883.1_Missense_Mutation_p.S720L|PPFIBP2_ENST00000530181.1_Missense_Mutation_p.S689L NM_003621.3 NP_003612.2 Q8ND30 LIPB2_HUMAN PTPRF interacting protein, binding protein 2 (liprin beta 2) 832 cell communication|DNA integration intracellular DNA binding|integrase activity|protein binding breast(8)|cervix(1)|kidney(1)|large_intestine(8)|lung(8)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(2) 32 Epithelial(150;2.01e-07)|BRCA - Breast invasive adenocarcinoma(625;0.236) TTCGATGAATCGACGGACTAC 0.473000 31 209 0 0 1 0 0 SLC34A1 6569 broad.mit.edu 37 5 176812989 176812989 + Splice_Site SNP C C T TCGA-IQ-A6SG-01A-12D-A34J-08 TCGA-IQ-A6SG-10A-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 09d1b40f-c5c2-49e7-bc2a-8a076ba59658 7f6c4b53-f204-4f74-a112-83d89e542313 g.chr5:176812989C>T ENST00000324417.5 + 3 202 c.109_splice c.e3-1 p.V37_splice SLC34A1_ENST00000512593.1_Splice_Site_p.V37_splice NM_003052.4 NP_003043.3 Q06495 NPT2A_HUMAN solute carrier family 34 (type II sodium/phosphate contransporter), member 1 37 phosphate ion homeostasis|response to cadmium ion|response to lead ion|response to mercury ion|sodium ion transport brush border membrane|integral to plasma membrane protein binding|sodium-dependent phosphate transmembrane transporter activity|symporter activity breast(1)|central_nervous_system(2)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(4)|lung(5)|ovary(1)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2) 24 all_cancers(89;2.04e-05)|Renal(175;0.000269)|Lung NSC(126;0.000832)|all_lung(126;0.00152) all_neural(177;0.00409)|Medulloblastoma(196;0.00498)|all_hematologic(541;0.21) Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178) CCTCCCTAGTCCTACACAGGA 0.692000 7 46 0 0 1 0 0 ERBB3 2065 broad.mit.edu 37 12 56480395 56480395 + Missense_Mutation SNP A A G TCGA-IQ-A6SG-01A-12D-A34J-08 TCGA-IQ-A6SG-10A-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 09d1b40f-c5c2-49e7-bc2a-8a076ba59658 7f6c4b53-f204-4f74-a112-83d89e542313 g.chr12:56480395A>G ENST00000267101.3 + 4 942 c.502A>G c.(502-504)Agg>Ggg p.R168G ERBB3_ENST00000415288.2_Missense_Mutation_p.R109G|ERBB3_ENST00000450146.2_Intron NM_001982.3 NP_001973.2 P21860 ERBB3_HUMAN v-erb-b2 avian erythroblastic leukemia viral oncogene homolog 3 168 cranial nerve development|heart development|negative regulation of cell adhesion|negative regulation of neuron apoptosis|negative regulation of secretion|negative regulation of signal transduction|neuron apoptosis|phosphatidylinositol 3-kinase cascade|positive regulation of phosphatidylinositol 3-kinase cascade|regulation of cell proliferation|Schwann cell differentiation|transmembrane receptor protein tyrosine kinase signaling pathway|wound healing basolateral plasma membrane|extracellular space|integral to plasma membrane|receptor complex ATP binding|growth factor binding|protein heterodimerization activity|protein homodimerization activity|protein tyrosine kinase activator activity|receptor signaling protein tyrosine kinase activity|transmembrane receptor protein tyrosine kinase activity central_nervous_system(2)|lung(3)|ovary(1)|skin(1)|stomach(1) 8 OV - Ovarian serous cystadenocarcinoma(18;0.112) GGACATCGTGAGGGACCGAGA 0.498000 5 89 0 0 1 0 0 NOTCH2 4853 broad.mit.edu 37 1 120491110 120491110 + Silent SNP G G A TCGA-IQ-A6SG-01A-12D-A34J-08 TCGA-IQ-A6SG-10A-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 09d1b40f-c5c2-49e7-bc2a-8a076ba59658 7f6c4b53-f204-4f74-a112-83d89e542313 g.chr1:120491110G>A ENST00000256646.2 - 17 2898 c.2679C>T c.(2677-2679)ggC>ggT p.G893G NM_024408.3 NP_077719.2 Q04721 NOTC2_HUMAN notch 2 893 EGF-like 23; calcium-binding (Potential). anti-apoptosis|bone remodeling|cell cycle arrest|cell fate determination|cell growth|hemopoiesis|induction of apoptosis|negative regulation of cell proliferation|nervous system development|Notch receptor processing|Notch signaling pathway|organ morphogenesis|positive regulation of Ras protein signal transduction|regulation of transcription, DNA-dependent|stem cell maintenance|transcription, DNA-dependent cell surface|cytosol|endoplasmic reticulum lumen|extracellular region|Golgi lumen|integral to plasma membrane|nucleoplasm calcium ion binding|ligand-regulated transcription factor activity|protein binding|receptor activity breast(4)|central_nervous_system(6)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(9)|kidney(9)|large_intestine(19)|liver(1)|lung(57)|ovary(4)|pancreas(1)|prostate(7)|skin(24)|stomach(2)|upper_aerodigestive_tract(5)|urinary_tract(1) 158 all_neural(166;0.153) all_lung(203;1.96e-06)|Lung NSC(69;1.47e-05)|all_epithelial(167;0.000809) Lung(183;0.0242)|LUSC - Lung squamous cell carcinoma(189;0.133) ACATGTAGCTGCCCTGGGTGT 0.517000 """N, F, Mis""" """marginal zone lymphoma, DLBCL""" Alagille Syndrome OREG0013733 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 30 61 0 0 1 0 0 RNF8 9025 broad.mit.edu 37 6 37342436 37342436 + Missense_Mutation SNP A A G TCGA-IQ-A6SG-01A-12D-A34J-08 TCGA-IQ-A6SG-10A-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 09d1b40f-c5c2-49e7-bc2a-8a076ba59658 7f6c4b53-f204-4f74-a112-83d89e542313 g.chr6:37342436A>G ENST00000373479.4 + 5 1272 c.1079A>G c.(1078-1080)gAc>gGc p.D360G RNF8_ENST00000469731.1_Missense_Mutation_p.D360G NM_003958.3|NM_183078.2 NP_003949.1|NP_898901.1 O76064 RNF8_HUMAN ring finger protein 8, E3 ubiquitin protein ligase 360 cell division|double-strand break repair|histone H2A ubiquitination|histone H2B ubiquitination|mitosis|positive regulation of DNA repair|response to ionizing radiation midbody|nucleus|ubiquitin ligase complex chromatin binding|histone binding|ubiquitin-protein ligase activity|zinc ion binding endometrium(1)|kidney(1)|large_intestine(2)|lung(7)|ovary(1)|urinary_tract(1) 13 AGCAAGAAGGACTTTGAAGCA 0.408000 27 55 0 0 1 0 0 GGPS1 9453 broad.mit.edu 37 1 235505557 235505557 + Missense_Mutation SNP G G A TCGA-IQ-A6SG-01A-12D-A34J-08 TCGA-IQ-A6SG-10A-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 09d1b40f-c5c2-49e7-bc2a-8a076ba59658 7f6c4b53-f204-4f74-a112-83d89e542313 g.chr1:235505557G>A ENST00000282841.5 + 4 605 c.373G>A c.(373-375)Gga>Aga p.G125R GGPS1_ENST00000476121.1_Missense_Mutation_p.G125R|GGPS1_ENST00000488594.1_Missense_Mutation_p.G125R|GGPS1_ENST00000391855.2_Missense_Mutation_p.G71R|GGPS1_ENST00000358966.2_Missense_Mutation_p.G125R O95749 GGPPS_HUMAN geranylgeranyl diphosphate synthase 1 125 cholesterol biosynthetic process|isoprenoid biosynthetic process cytosol|soluble fraction dimethylallyltranstransferase activity|farnesyltranstransferase activity|geranyltranstransferase activity|metal ion binding central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(3)|ovary(1) 8 Ovarian(103;0.0634)|Breast(184;0.23) all_cancers(173;0.00192)|Prostate(94;0.0294)|all_epithelial(177;0.155)|Lung SC(1967;0.238) OV - Ovarian serous cystadenocarcinoma(106;1.39e-05) ACTCCATCAGGGACAAGGCCT 0.438000 21 55 0 0 1 0 0 CEACAM5 1048 broad.mit.edu 37 19 42223995 42223995 + Silent SNP C C T TCGA-IQ-A6SG-01A-12D-A34J-08 TCGA-IQ-A6SG-10A-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 09d1b40f-c5c2-49e7-bc2a-8a076ba59658 7f6c4b53-f204-4f74-a112-83d89e542313 g.chr19:42223995C>T ENST00000221992.6 + 7 1753 c.1639C>T c.(1639-1641)Ctg>Ttg p.L547L CEACAM5_ENST00000405816.1_Silent_p.L547L|CEACAM5_ENST00000398599.4_Silent_p.L546L|CEA_ENST00000598976.1_Intron NM_004363.2 NP_004354.2 P06731 CEAM5_HUMAN carcinoembryonic antigen-related cell adhesion molecule 5 547 Ig-like 6. anchored to membrane|basolateral plasma membrane|integral to plasma membrane breast(1)|endometrium(3)|kidney(5)|large_intestine(4)|lung(10)|ovary(2)|skin(7)|stomach(1)|urinary_tract(1) 34 OV - Ovarian serous cystadenocarcinoma(3;0.00278)|all cancers(3;0.00625)|Epithelial(262;0.0379)|GBM - Glioblastoma multiforme(1328;0.142) CAGTCCCAGGCTGCAGCTGTC 0.517000 44 172 0 0 1 0 0 PCDH11X 27328 broad.mit.edu 37 X 91873878 91873878 + Missense_Mutation SNP C C T TCGA-IQ-A6SG-01A-12D-A34J-08 TCGA-IQ-A6SG-10A-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 09d1b40f-c5c2-49e7-bc2a-8a076ba59658 7f6c4b53-f204-4f74-a112-83d89e542313 g.chrX:91873878C>T ENST00000373094.1 + 7 4828 c.3983C>T c.(3982-3984)cCa>cTa p.P1328L PCDH11X_ENST00000373088.1_Missense_Mutation_p.P1291L|PCDH11X_ENST00000504220.1_3'UTR|PCDH11X_ENST00000298274.8_Missense_Mutation_p.P1291L|PCDH11X_ENST00000373097.1_Missense_Mutation_p.P1318L|PCDH11X_ENST00000406881.1_Missense_Mutation_p.P1320L|PCDH11X_ENST00000361655.2_Missense_Mutation_p.P1310L NM_032968.3 NP_116750.1 Q9BZA7 PC11X_HUMAN protocadherin 11 X-linked 1328 homophilic cell adhesion integral to plasma membrane calcium ion binding NS(1)|autonomic_ganglia(1)|biliary_tract(1)|central_nervous_system(1)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(30)|liver(4)|lung(92)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(1) 159 ACCTTCACTCCACGCCAACAG 0.413000 79 82 0 0 1 0 0 FSTL5 56884 broad.mit.edu 37 4 163032430 163032430 + Missense_Mutation SNP C C T TCGA-IQ-A6SG-01A-12D-A34J-08 TCGA-IQ-A6SG-10A-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 09d1b40f-c5c2-49e7-bc2a-8a076ba59658 7f6c4b53-f204-4f74-a112-83d89e542313 g.chr4:163032430C>T ENST00000306100.5 - 2 555 c.119G>A c.(118-120)cGa>cAa p.R40Q FSTL5_ENST00000536695.1_Missense_Mutation_p.R40Q|FSTL5_ENST00000379164.4_Missense_Mutation_p.R40Q|FSTL5_ENST00000427802.2_Missense_Mutation_p.R40Q NM_001128427.2|NM_020116.4 NP_001121899.1|NP_064501.2 Q8N475 FSTL5_HUMAN follistatin-like 5 40 extracellular region calcium ion binding p.R40Q(1) central_nervous_system(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(4)|kidney(3)|large_intestine(18)|lung(43)|ovary(4)|pancreas(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(2) 91 all_hematologic(180;0.24) COAD - Colon adenocarcinoma(41;0.179) TACCTTATGTCGCAATCTCAT 0.393000 38 124 0 0 1 0 0 DUSP21 63904 broad.mit.edu 37 X 44703764 44703764 + Missense_Mutation SNP T T C TCGA-IQ-A6SG-01A-12D-A34J-08 TCGA-IQ-A6SG-10A-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 09d1b40f-c5c2-49e7-bc2a-8a076ba59658 7f6c4b53-f204-4f74-a112-83d89e542313 g.chrX:44703764T>C ENST00000339042.4 + 1 516 c.386T>C c.(385-387)cTg>cCg p.L129P NM_022076.3 NP_071359.3 Q9H596 DUS21_HUMAN dual specificity phosphatase 21 129 Tyrosine-protein phosphatase. cytoplasm|nucleus MAP kinase tyrosine/serine/threonine phosphatase activity|protein tyrosine phosphatase activity breast(1)|endometrium(3)|kidney(1)|large_intestine(3)|lung(8)|skin(3) 19 TCCATGTCGCTGCTGGACGCC 0.557000 12 63 0 0 1 0 0 OIT3 170392 broad.mit.edu 37 10 74690334 74690334 + Missense_Mutation SNP G G A TCGA-IQ-A6SG-01A-12D-A34J-08 TCGA-IQ-A6SG-10A-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 09d1b40f-c5c2-49e7-bc2a-8a076ba59658 7f6c4b53-f204-4f74-a112-83d89e542313 g.chr10:74690334G>A ENST00000334011.5 + 8 1624 c.1406G>A c.(1405-1407)cGg>cAg p.R469Q NM_152635.1 NP_689848.1 Q8WWZ8 OIT3_HUMAN oncoprotein induced transcript 3 469 ZP. nuclear envelope calcium ion binding autonomic_ganglia(1)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(9)|liver(2)|lung(14)|ovary(2)|prostate(1)|skin(2) 35 Prostate(51;0.0198) TACACATCCCGGGATCACCTA 0.438000 39 145 0 0 1 0 0 RB1 5925 broad.mit.edu 37 13 48951141 48951141 + Nonsense_Mutation SNP G G T TCGA-IQ-A6SG-01A-12D-A34J-08 TCGA-IQ-A6SG-10A-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 09d1b40f-c5c2-49e7-bc2a-8a076ba59658 7f6c4b53-f204-4f74-a112-83d89e542313 g.chr13:48951141G>T ENST00000267163.4 + 13 1441 c.1303G>T c.(1303-1305)Gga>Tga p.G435* NM_000321.2 NP_000312.2 P06400 RB_HUMAN retinoblastoma 1 435 Domain A.|Pocket; binds T and E1A. androgen receptor signaling pathway|cell cycle arrest|chromatin remodeling|G1 phase of mitotic cell cycle|interspecies interaction between organisms|maintenance of mitotic sister chromatid cohesion|mitotic cell cycle G1/S transition checkpoint|myoblast differentiation|negative regulation of cell growth|negative regulation of protein kinase activity|negative regulation of S phase of mitotic cell cycle|negative regulation of sequence-specific DNA binding transcription factor activity|positive regulation of mitotic metaphase/anaphase transition|protein localization to chromosome, centromeric region|Ras protein signal transduction|regulation of centromere complex assembly|regulation of cohesin localization to chromatin|regulation of lipid kinase activity|regulation of transcription involved in G1/S phase of mitotic cell cycle|S phase of mitotic cell cycle|sister chromatid biorientation chromatin|PML body|Rb-E2F complex|SWI/SNF complex androgen receptor binding|DNA binding|kinase binding|phosphoprotein binding|sequence-specific DNA binding transcription factor activity|transcription coactivator activity|transcription factor binding|ubiquitin protein ligase binding p.0?(15)|p.?(8)|p.G435*(1) NS(3)|adrenal_gland(1)|bone(22)|breast(30)|central_nervous_system(48)|cervix(3)|endometrium(14)|eye(95)|gastrointestinal_tract_(site_indeterminate)(1)|haematopoietic_and_lymphoid_tissue(20)|kidney(3)|large_intestine(10)|liver(3)|lung(153)|oesophagus(1)|ovary(13)|pancreas(5)|pituitary(1)|prostate(14)|salivary_gland(2)|skin(9)|soft_tissue(9)|stomach(4)|upper_aerodigestive_tract(1)|urinary_tract(31) 496 all_cancers(8;6.9e-71)|all_epithelial(8;4.61e-22)|Acute lymphoblastic leukemia(8;1.1e-21)|all_hematologic(8;2.3e-21)|all_lung(13;1.51e-09)|Lung NSC(96;7.03e-07)|Breast(56;1.53e-05)|Prostate(109;0.000493)|Myeloproliferative disorder(33;0.0179)|Hepatocellular(98;0.0207)|all_neural(104;0.0227)|Glioma(44;0.0286)|Lung SC(185;0.0301) GBM - Glioblastoma multiforme(2;9.98e-18)|LUSC - Lung squamous cell carcinoma(3;0.013) Insulin Glargine recombinant(DB00047)|Insulin Lyspro recombinant(DB00046)|Insulin recombinant(DB00030)|Insulin, porcine(DB00071) TAAAGCTGTGGGACAGGGTTG 0.353000 6 """D, Mis, N, F, S""" """retinoblastoma, sarcoma, breast, small cell lung""" """retinoblastoma, sarcoma, breast, small cell lung""" Hereditary Retinoblastoma TCGA GBM(7;6.82e-08)|TSP Lung(12;0.097)|TCGA Ovarian(6;0.080) 51 45 7.05377e-20 8.78515e-20 1 1 0 ANKRD36 375248 broad.mit.edu 37 2 97875549 97875549 + Missense_Mutation SNP G G A TCGA-IQ-A6SG-01A-12D-A34J-08 TCGA-IQ-A6SG-10A-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 09d1b40f-c5c2-49e7-bc2a-8a076ba59658 7f6c4b53-f204-4f74-a112-83d89e542313 g.chr2:97875549G>A ENST00000420699.2 + 56 3551 c.3307G>A c.(3307-3309)Gag>Aag p.E1103K ANKRD36_ENST00000461153.2_Missense_Mutation_p.E1103K NM_001164315.1 NP_001157787.1 A6QL64 AN36A_HUMAN ankyrin repeat domain 36 1103 p.E1103K(1)|p.E933K(1) endometrium(9)|kidney(5)|liver(1)|lung(3)|ovary(2)|prostate(2)|upper_aerodigestive_tract(1) 23 TACAAGTGACGAGAAAGATTC 0.323000 5 55 0 0 1 0 0 OR10G7 390265 broad.mit.edu 37 11 123909619 123909619 + Silent SNP C C A TCGA-IQ-A6SG-01A-12D-A34J-08 TCGA-IQ-A6SG-10A-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 09d1b40f-c5c2-49e7-bc2a-8a076ba59658 7f6c4b53-f204-4f74-a112-83d89e542313 g.chr11:123909619C>A ENST00000330487.5 - 1 98 c.90G>T c.(88-90)ctG>ctT p.L30L NM_001004463.1 NP_001004463.1 Q8NGN6 O10G7_HUMAN olfactory receptor, family 10, subfamily G, member 7 30 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(7)|large_intestine(6)|lung(20)|ovary(2)|prostate(2)|stomach(3)|urinary_tract(1) 47 Breast(109;0.00867)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|all_neural(223;0.22) BRCA - Breast invasive adenocarcinoma(274;4.88e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0521) CGTAAACCACCAGGAAGATTC 0.572000 16 145 1.64293e-13 1.92378e-13 1 1 0 CSMD1 64478 broad.mit.edu 37 8 3063085 3063085 + Missense_Mutation SNP G G T TCGA-IQ-A6SG-01A-12D-A34J-08 TCGA-IQ-A6SG-10A-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 09d1b40f-c5c2-49e7-bc2a-8a076ba59658 7f6c4b53-f204-4f74-a112-83d89e542313 g.chr8:3063085G>T ENST00000520002.1 - 32 5483 c.4928C>A c.(4927-4929)cCc>cAc p.P1643H CSMD1_ENST00000602723.1_Missense_Mutation_p.P1643H|CSMD1_ENST00000400186.3_Missense_Mutation_p.P1643H|CSMD1_ENST00000602557.1_Missense_Mutation_p.P1643H|CSMD1_ENST00000542608.1_Missense_Mutation_p.P1642H|CSMD1_ENST00000539096.1_Missense_Mutation_p.P1642H|CSMD1_ENST00000537824.1_Missense_Mutation_p.P1642H|CSMD1_ENST00000523387.1_5'UTR Q96PZ7 CSMD1_HUMAN CUB and Sushi multiple domains 1 1643 CUB 10. integral to membrane p.P1642L(1)|p.P1371L(1) breast(20)|large_intestine(5) 25 all_cancers(1;5.7e-41)|all_epithelial(1;2.54e-36)|Lung NSC(1;7.54e-11)|all_lung(1;3.2e-10)|Hepatocellular(1;3.78e-05)|Breast(1;0.000196)|Myeloproliferative disorder(4;0.000374)|Esophageal squamous(1;0.0157)|Ovarian(12;0.091)|Renal(68;0.144)|Colorectal(14;0.234) all cancers(1;5.03e-41)|Epithelial(1;4.78e-31)|Lung(1;1.14e-14)|LUSC - Lung squamous cell carcinoma(1;2.34e-14)|GBM - Glioblastoma multiforme(1;4.49e-10)|Colorectal(4;1.18e-07)|OV - Ovarian serous cystadenocarcinoma(1;3.2e-07)|BRCA - Breast invasive adenocarcinoma(1;6.17e-07)|COAD - Colon adenocarcinoma(4;0.000539)|READ - Rectum adenocarcinoma(4;0.00896)|Kidney(5;0.00957)|KIRC - Kidney renal clear cell carcinoma(5;0.0689) GTAATTATGGGGGTAGTTTGG 0.408000 6 14 1.26484e-09 1.42036e-09 1 1 0 PITX1 5307 broad.mit.edu 37 5 134364505 134364505 + Silent SNP C C T TCGA-IQ-A6SG-01A-12D-A34J-08 TCGA-IQ-A6SG-10A-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 09d1b40f-c5c2-49e7-bc2a-8a076ba59658 7f6c4b53-f204-4f74-a112-83d89e542313 g.chr5:134364505C>T ENST00000265340.7 - 3 1325 c.909G>A c.(907-909)ccG>ccA p.P303P PITX1_ENST00000506438.1_Silent_p.P303P NM_002653.4 NP_002644.4 P78337 PITX1_HUMAN paired-like homeodomain 1 303 nucleolus sequence-specific DNA binding central_nervous_system(1)|cervix(3)|endometrium(3)|large_intestine(1)|lung(5)|ovary(1) 14 KIRC - Kidney renal clear cell carcinoma(527;0.0101)|Kidney(363;0.0233) READ - Rectum adenocarcinoma(2;0.0607) GGCCCGAGGCCGGGCCCTGCA 0.731000 7 16 0 0 1 0 0 RELB 5971 broad.mit.edu 37 19 45515405 45515405 + Silent SNP G G A TCGA-IQ-A6SG-01A-12D-A34J-08 TCGA-IQ-A6SG-10A-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 09d1b40f-c5c2-49e7-bc2a-8a076ba59658 7f6c4b53-f204-4f74-a112-83d89e542313 g.chr19:45515405G>A ENST00000221452.8 + 4 525 c.375G>A c.(373-375)ccG>ccA p.P125P RELB_ENST00000540120.1_Silent_p.P125P|RELB_ENST00000505236.1_Silent_p.P122P NM_006509.3 NP_006500.2 Q01201 RELB_HUMAN v-rel avian reticuloendotheliosis viral oncogene homolog B 125 RHD. nucleus protein binding|sequence-specific DNA binding transcription factor activity|transcription corepressor activity breast(1)|endometrium(1)|kidney(2)|large_intestine(1)|lung(3)|ovary(3)|skin(1) 12 Ovarian(192;0.0728)|all_neural(266;0.112) OV - Ovarian serous cystadenocarcinoma(262;0.00986) GCCCGCAGCCGCACCTGGTCA 0.761000 7 23 0 0 1 0 0 EIF4G3 8672 broad.mit.edu 37 1 21205835 21205836 + Frame_Shift_Del DEL AT AT - TCGA-IQ-A6SG-01A-12D-A34J-08 TCGA-IQ-A6SG-10A-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 09d1b40f-c5c2-49e7-bc2a-8a076ba59658 7f6c4b53-f204-4f74-a112-83d89e542313 g.chr1:21205835_21205836delAT ENST00000602326.1 - 18 3035_3036 c.2452_2453delAT c.(2452-2454)gfs p.M818fs EIF4G3_ENST00000536266.1_Frame_Shift_Del_p.M416fs|EIF4G3_ENST00000374935.3_Frame_Shift_Del_p.M532fs|EIF4G3_ENST00000374937.3_Frame_Shift_Del_p.M818fs|EIF4G3_ENST00000264211.8_Frame_Shift_Del_p.M812fs|EIF4G3_ENST00000537738.1_Frame_Shift_Del_p.M302fs|EIF4G3_ENST00000400422.1_Frame_Shift_Del_p.M812fs NM_001198802.1 NP_001185731.1 O43432 IF4G3_HUMAN eukaryotic translation initiation factor 4 gamma, 3 812 MIF4G.|eIF3/EIF4A-binding (By similarity). interspecies interaction between organisms|regulation of translational initiation|RNA metabolic process eukaryotic translation initiation factor 4F complex protein binding|RNA cap binding|translation initiation factor activity endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(18)|lung(20)|ovary(1)|prostate(4)|skin(3)|stomach(1)|urinary_tract(3) 70 all_lung(284;2.61e-06)|Lung NSC(340;2.81e-06)|Colorectal(325;3.46e-05)|Renal(390;9.67e-05)|Breast(348;0.00149)|Ovarian(437;0.00338)|Myeloproliferative disorder(586;0.0256) UCEC - Uterine corpus endometrioid carcinoma (279;0.023)|COAD - Colon adenocarcinoma(152;5.42e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000327)|GBM - Glioblastoma multiforme(114;0.000696)|Kidney(64;0.0018)|STAD - Stomach adenocarcinoma(196;0.00644)|KIRC - Kidney renal clear cell carcinoma(64;0.0185)|READ - Rectum adenocarcinoma(331;0.124)|Lung(427;0.191) ACATCGACACATGTTTGCGTAA 0.441 42 156 --- --- --- --- ANKRD44 91526 broad.mit.edu 37 2 197943383 197943384 + Frame_Shift_Del DEL TG TG - TCGA-IQ-A6SG-01A-12D-A34J-08 TCGA-IQ-A6SG-10A-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 09d1b40f-c5c2-49e7-bc2a-8a076ba59658 7f6c4b53-f204-4f74-a112-83d89e542313 g.chr2:197943383_197943384delTG ENST00000409153.1 - 16 1875_1876 c.1693_1694delCA c.(1693-1695)tfs p.H565fs ANKRD44_ENST00000539527.1_Frame_Shift_Del_p.H493fs|ANKRD44_ENST00000328737.2_Intron|ANKRD44_ENST00000450567.1_Intron|ANKRD44_ENST00000337207.5_Intron|ANKRD44_ENST00000282272.8_Intron Q8N8A2 ANR44_HUMAN ankyrin repeat domain 44 811 protein binding NS(1)|endometrium(3)|kidney(2)|large_intestine(9)|lung(20)|ovary(4)|skin(3)|stomach(1)|upper_aerodigestive_tract(2) 45 OV - Ovarian serous cystadenocarcinoma(117;0.246) ATTTGGGGTATGTGTGTGTGTG 0.411 7 28 --- --- --- --- KLC4 89953 broad.mit.edu 37 6 43039083 43039083 + Frame_Shift_Del DEL C C - TCGA-IQ-A6SG-01A-12D-A34J-08 TCGA-IQ-A6SG-10A-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 09d1b40f-c5c2-49e7-bc2a-8a076ba59658 7f6c4b53-f204-4f74-a112-83d89e542313 g.chr6:43039083delC ENST00000394056.2 + 10 1721 c.1226delC c.(1225-1227)gcfs p.A409fs KLC4_ENST00000347162.5_Frame_Shift_Del_p.A409fs|KLC4_ENST00000259708.3_Frame_Shift_Del_p.A427fs|KLC4_ENST00000453940.2_Frame_Shift_Del_p.A332fs|KLC4_ENST00000394058.1_Frame_Shift_Del_p.A409fs|KLC4_ENST00000479388.1_Frame_Shift_Del_p.A409fs Q9NSK0 KLC4_HUMAN kinesin light chain 4 409 cytoplasm|kinesin complex|microtubule microtubule motor activity|protein binding endometrium(2)|large_intestine(7)|lung(5)|ovary(1)|pancreas(1)|skin(3)|urinary_tract(4) 23 all cancers(41;0.00169)|Colorectal(64;0.00245)|COAD - Colon adenocarcinoma(64;0.00536)|OV - Ovarian serous cystadenocarcinoma(102;0.0376)|KIRC - Kidney renal clear cell carcinoma(2;0.0453) CTGACCCGTGCCCATGTACAG 0.517 14 75 --- --- --- --- AC006988.1 0 broad.mit.edu 37 7 88269890 88269891 + RNA INS - - T rs113056340 TCGA-IQ-A6SG-01A-12D-A34J-08 TCGA-IQ-A6SG-10A-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 09d1b40f-c5c2-49e7-bc2a-8a076ba59658 7f6c4b53-f204-4f74-a112-83d89e542313 g.chr7:88269890_88269891insT ENST00000390184.1 + 0 56_57 AGAAGGAGCACTTTTTTTTTTT 0.317 2 4 --- --- --- --- SPAG1 6674 broad.mit.edu 37 8 101178178 101178179 + Frame_Shift_Ins INS - - A TCGA-IQ-A6SG-01A-12D-A34J-08 TCGA-IQ-A6SG-10A-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 09d1b40f-c5c2-49e7-bc2a-8a076ba59658 7f6c4b53-f204-4f74-a112-83d89e542313 g.chr8:101178178_101178179insA ENST00000388798.2 + 3 468_469 c.277_278insA c.(277-279)aaafs p.K93fs SPAG1_ENST00000520643.1_Frame_Shift_Ins_p.K93fs|SPAG1_ENST00000520508.1_Frame_Shift_Ins_p.K93fs|SPAG1_ENST00000251809.3_Frame_Shift_Ins_p.K93fs NM_003114.4 NP_003105.2 Q07617 SPAG1_HUMAN sperm associated antigen 1 93 single fertilization cytoplasm GTP binding|hydrolase activity central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(6)|lung(10)|ovary(2)|pancreas(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3) 30 all_cancers(14;2.35e-05)|all_epithelial(15;5.2e-08)|Lung NSC(17;0.000283)|all_lung(17;0.000823) Breast(495;0.195) Epithelial(11;1.12e-09)|all cancers(13;1.26e-07)|OV - Ovarian serous cystadenocarcinoma(57;4.37e-05)|STAD - Stomach adenocarcinoma(118;0.0525) KIRC - Kidney renal clear cell carcinoma(542;0.00178)|READ - Rectum adenocarcinoma(644;0.236) TGAAGAATGGGAAAAAATTGAT 0.361 11 88 --- --- --- --- BTBD6 90135 broad.mit.edu 37 14 105716856 105716856 + Frame_Shift_Del DEL C C - TCGA-IQ-A6SG-01A-12D-A34J-08 TCGA-IQ-A6SG-10A-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 09d1b40f-c5c2-49e7-bc2a-8a076ba59658 7f6c4b53-f204-4f74-a112-83d89e542313 g.chr14:105716856delC ENST00000463376.2 + 3 1621 c.1080delC c.(1078-1080)gtfs p.V360fs BRF1_ENST00000327359.3_Intron|BRF1_ENST00000546474.1_Intron|BTBD6_ENST00000392554.3_Frame_Shift_Del_p.V435fs|BRF1_ENST00000440513.3_Intron|BTBD6_ENST00000536364.1_Frame_Shift_Del_p.V435fs|BTBD6_ENST00000327471.3_Frame_Shift_Del_p.V360fs|BRF1_ENST00000379937.2_Intron Q96KE9 BTBD6_HUMAN BTB (POZ) domain containing 6 435 cytoplasmic mRNA processing body endometrium(1)|lung(3) 4 Melanoma(154;0.226) OV - Ovarian serous cystadenocarcinoma(23;0.0163)|Epithelial(46;0.0391) Epithelial(152;0.18) CCAGTGCCGTCCTGGACGGCA 0.572 39 82 --- --- --- --- MIR7162 102466227 broad.mit.edu 37 15 62538522 62538523 + RNA INS - - GA rs3055695 TCGA-IQ-A6SG-01A-12D-A34J-08 TCGA-IQ-A6SG-10A-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 09d1b40f-c5c2-49e7-bc2a-8a076ba59658 7f6c4b53-f204-4f74-a112-83d89e542313 g.chr15:62538522_62538523insGA ENST00000570077.1 - 0 693_694 GGGGGCTCCGGGTAGGGGTTCA 0.609 2 4 --- --- --- --- RP11-863P13.2 0 broad.mit.edu 37 16 88226616 88226618 + RNA DEL TGA TGA - rs149645617 by1000genomes TCGA-IQ-A6SG-01A-12D-A34J-08 TCGA-IQ-A6SG-10A-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 09d1b40f-c5c2-49e7-bc2a-8a076ba59658 7f6c4b53-f204-4f74-a112-83d89e542313 g.chr16:88226616_88226618delTGA ENST00000568587.1 - 0 91 gtgatggtggtgatggtggtggt 0.527 2 4 --- --- --- --- KRT16P6 353194 broad.mit.edu 37 17 16723089 16723092 + RNA DEL TTTG TTTG - TCGA-IQ-A6SG-01A-12D-A34J-08 TCGA-IQ-A6SG-10A-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 09d1b40f-c5c2-49e7-bc2a-8a076ba59658 7f6c4b53-f204-4f74-a112-83d89e542313 g.chr17:16723089_16723092delTTTG ENST00000417510.1 - 0 871 tttttttttttttgacagggtcta 0.490 2 4 --- --- --- --- CTC-264K15.6 0 broad.mit.edu 37 17 62052593 62052593 + RNA DEL C C - TCGA-IQ-A6SG-01A-12D-A34J-08 TCGA-IQ-A6SG-10A-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 09d1b40f-c5c2-49e7-bc2a-8a076ba59658 7f6c4b53-f204-4f74-a112-83d89e542313 g.chr17:62052593delC ENST00000577329.1 - 0 55 ACTGCCCTCTCCACCCTCCAC 0.572 2 4 --- --- --- --- CTNNBL1 56259 broad.mit.edu 37 20 36361471 36361471 + Splice_Site DEL T T - TCGA-IQ-A6SG-01A-12D-A34J-08 TCGA-IQ-A6SG-10A-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 09d1b40f-c5c2-49e7-bc2a-8a076ba59658 7f6c4b53-f204-4f74-a112-83d89e542313 g.chr20:36361471delT ENST00000405275.2 + 3 381 c.e3+2 CTNNBL1_ENST00000361383.6_Splice_Site Q8WYA6 CTBL1_HUMAN catenin, beta like 1 apoptosis|positive regulation of apoptosis|somatic diversification of immunoglobulins nucleus enzyme binding autonomic_ganglia(1)|breast(2)|endometrium(9)|large_intestine(6)|lung(6)|ovary(3)|urinary_tract(1) 28 Myeloproliferative disorder(115;0.00878) GAGGAAGAGGTAACGTGGCAG 0.483 16 15 --- --- --- ---