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 CLCA4 22802 broad.mit.edu 37 1 87045673 87045673 + Missense_Mutation SNP A A G TCGA-EJ-A8FN-01A-11D-A34U-08 TCGA-EJ-A8FN-10A-01D-A34X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4526e2b2-d20d-4290-baf5-8d331fce6902 626f7f57-e6e8-4413-8a05-942c859a6d61 g.chr1:87045673A>G ENST00000370563.3 + 14 2447 c.2405A>G c.(2404-2406)gAc>gGc p.D802G RP4-651E10.4_ENST00000456587.1_RNA NM_012128.3 NP_036260.2 Q14CN2 CLCA4_HUMAN chloride channel accessory 4 802 apical plasma membrane|extracellular region|integral to plasma membrane chloride channel activity breast(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(7)|liver(2)|lung(21)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1) 44 Lung NSC(277;0.238) all cancers(265;0.0202)|Epithelial(280;0.0404) GATCTAAGAGACAGTTTTGAT 0.343 5 51 --- --- --- --- TRIM67 440730 broad.mit.edu 37 1 231337222 231337222 + Missense_Mutation SNP A A C TCGA-EJ-A8FN-01A-11D-A34U-08 TCGA-EJ-A8FN-10A-01D-A34X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4526e2b2-d20d-4290-baf5-8d331fce6902 626f7f57-e6e8-4413-8a05-942c859a6d61 g.chr1:231337222A>C ENST00000444294.3 + 5 2351 c.1493A>C c.(1492-1494)cAg>cCg p.Q498P TRIM67_ENST00000449018.3_Missense_Mutation_p.Q436P|TRIM67_ENST00000366652.2_Missense_Mutation_p.Q498P|TRIM67_ENST00000366653.5_Missense_Mutation_p.Q498P NM_001004342.3 NP_001004342.3 Q6ZTA4 TRI67_HUMAN tripartite motif containing 67 498 COS. cytoplasm|cytoskeleton zinc ion binding breast(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(10)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1) 29 Breast(184;0.0871) all_cancers(173;0.189)|Prostate(94;0.167) CCGCTGCTGCAGGCCATCCAC 0.572 5 19 --- --- --- --- DPP10 57628 broad.mit.edu 37 2 116066820 116066820 + Silent SNP G G T TCGA-EJ-A8FN-01A-11D-A34U-08 TCGA-EJ-A8FN-10A-01D-A34X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4526e2b2-d20d-4290-baf5-8d331fce6902 626f7f57-e6e8-4413-8a05-942c859a6d61 g.chr2:116066820G>T ENST00000410059.1 + 2 546 c.66G>T c.(64-66)ctG>ctT p.L22L DPP10_ENST00000393147.2_Silent_p.L26L|DPP10_ENST00000310323.8_Silent_p.L15L|DPP10_ENST00000409163.1_5'UTR NM_001178037.1|NM_020868.3 NP_001171508.1|NP_065919 Q8N608 DPP10_HUMAN dipeptidyl-peptidase 10 (non-functional) 22 Mediates effects on KCND2. proteolysis integral to membrane|membrane fraction serine-type peptidase activity breast(4)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(24)|liver(2)|lung(48)|ovary(6)|prostate(1)|skin(5)|soft_tissue(1) 101 GGTAGGAACTGGGAAGTAACA 0.393 14 32 --- --- --- --- DPP10 57628 broad.mit.edu 37 2 116066821 116066821 + Nonsense_Mutation SNP G G T TCGA-EJ-A8FN-01A-11D-A34U-08 TCGA-EJ-A8FN-10A-01D-A34X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4526e2b2-d20d-4290-baf5-8d331fce6902 626f7f57-e6e8-4413-8a05-942c859a6d61 g.chr2:116066821G>T ENST00000410059.1 + 2 547 c.67G>T c.(67-69)Gga>Tga p.G23* DPP10_ENST00000393147.2_Nonsense_Mutation_p.G27*|DPP10_ENST00000310323.8_Nonsense_Mutation_p.G16*|DPP10_ENST00000409163.1_5'UTR NM_001178037.1|NM_020868.3 NP_001171508.1|NP_065919 Q8N608 DPP10_HUMAN dipeptidyl-peptidase 10 (non-functional) 23 Mediates effects on KCND2. proteolysis integral to membrane|membrane fraction serine-type peptidase activity breast(4)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(24)|liver(2)|lung(48)|ovary(6)|prostate(1)|skin(5)|soft_tissue(1) 101 GTAGGAACTGGGAAGTAACAG 0.393 15 32 --- --- --- --- LIMD1 8994 broad.mit.edu 37 3 45637533 45637533 + Missense_Mutation SNP C C T TCGA-EJ-A8FN-01A-11D-A34U-08 TCGA-EJ-A8FN-10A-01D-A34X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4526e2b2-d20d-4290-baf5-8d331fce6902 626f7f57-e6e8-4413-8a05-942c859a6d61 g.chr3:45637533C>T ENST00000273317.4 + 1 1183 c.1162C>T c.(1162-1164)Ctt>Ttt p.L388F LIMD1_ENST00000465039.1_Intron|LIMD1_ENST00000440097.1_Missense_Mutation_p.L388F NM_014240.2 NP_055055.1 Q9UGP4 LIMD1_HUMAN LIM domains containing 1 388 cytoplasmic mRNA processing body assembly|gene silencing by miRNA|multicellular organismal development|negative regulation of transcription, DNA-dependent|signal transduction|transcription, DNA-dependent cytoplasmic mRNA processing body|nucleus|RNA-induced silencing complex protein binding|zinc ion binding endometrium(2)|kidney(1)|large_intestine(1)|lung(4)|ovary(1)|skin(1) 10 BRCA - Breast invasive adenocarcinoma(193;0.011)|KIRC - Kidney renal clear cell carcinoma(197;0.0264)|Kidney(197;0.0315) CCCCACCAGTCTTGTCCATCC 0.612 14 20 --- --- --- --- IMPDH2 3615 broad.mit.edu 37 3 49065748 49065748 + Missense_Mutation SNP C C T TCGA-EJ-A8FN-01A-11D-A34U-08 TCGA-EJ-A8FN-10A-01D-A34X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4526e2b2-d20d-4290-baf5-8d331fce6902 626f7f57-e6e8-4413-8a05-942c859a6d61 g.chr3:49065748C>T ENST00000326739.4 - 4 296 c.257G>A c.(256-258)gGc>gAc p.G86D NM_000884.2 NP_000875.2 P12268 IMDH2_HUMAN IMP (inosine 5'-monophosphate) dehydrogenase 2 86 GMP biosynthetic process|purine base metabolic process cytosol|nucleus IMP dehydrogenase activity|metal ion binding|nucleotide binding|protein binding breast(2)|endometrium(3)|kidney(1)|large_intestine(6)|lung(2)|stomach(1)|urinary_tract(1) 16 BRCA - Breast invasive adenocarcinoma(193;8.01e-05)|Kidney(197;0.00216)|KIRC - Kidney renal clear cell carcinoma(197;0.00244) Mycophenolate mofetil(DB00688)|Mycophenolic acid(DB01024)|NADH(DB00157) GCCAATACCGCCTGTAAGCTA 0.493 8 61 --- --- --- --- PACSIN1 29993 broad.mit.edu 37 6 34499460 34499460 + Missense_Mutation SNP C C A TCGA-EJ-A8FN-01A-11D-A34U-08 TCGA-EJ-A8FN-10A-01D-A34X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4526e2b2-d20d-4290-baf5-8d331fce6902 626f7f57-e6e8-4413-8a05-942c859a6d61 g.chr6:34499460C>A ENST00000538621.1 + 9 1366 c.1121C>A c.(1120-1122)aCc>aAc p.T374N PACSIN1_ENST00000374043.2_Missense_Mutation_p.T332N|PACSIN1_ENST00000244458.2_Missense_Mutation_p.T374N NM_001199583.2 NP_001186512.1 Q9BY11 PACN1_HUMAN protein kinase C and casein kinase substrate in neurons 1 374 endocytosis protein kinase activity endometrium(1)|kidney(1)|large_intestine(3)|lung(6)|prostate(2) 13 GGCAGTGAGACCAACGGGGGC 0.627 13 148 --- --- --- --- HOXA9 3205 broad.mit.edu 37 7 27204581 27204581 + Nonsense_Mutation SNP T T A TCGA-EJ-A8FN-01A-11D-A34U-08 TCGA-EJ-A8FN-10A-01D-A34X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4526e2b2-d20d-4290-baf5-8d331fce6902 626f7f57-e6e8-4413-8a05-942c859a6d61 g.chr7:27204581T>A ENST00000343483.6 - 1 568 c.496A>T c.(496-498)Aga>Tga p.R166* RP1-170O19.20_ENST00000465941.1_Intron|RP1-170O19.20_ENST00000470747.4_Nonsense_Mutation_p.R6*|HOXA9_ENST00000497089.1_Intron|HOXA9_ENST00000396345.1_3'UTR NM_152739.3 NP_689952.1 P31269 HXA9_HUMAN homeobox A9 166 protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity central_nervous_system(1)|endometrium(1)|lung(5)|prostate(1) 8 TGTTTTTCTCTATCAACTGGA 0.537 T """NUP98, MSI2""" AML* 9 50 --- --- --- --- LMOD2 442721 broad.mit.edu 37 7 123302800 123302800 + Missense_Mutation SNP C C A TCGA-EJ-A8FN-01A-11D-A34U-08 TCGA-EJ-A8FN-10A-01D-A34X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4526e2b2-d20d-4290-baf5-8d331fce6902 626f7f57-e6e8-4413-8a05-942c859a6d61 g.chr7:123302800C>A ENST00000458573.2 + 2 1317 c.1160C>A c.(1159-1161)tCt>tAt p.S387Y LMOD2_ENST00000456238.2_Intron NM_207163.1 NP_997046.1 Q6P5Q4 LMOD2_HUMAN leiomodin 2 (cardiac) 387 Pro-rich. cytoskeleton actin binding|tropomyosin binding ACACCTAGCTCTTCACCTTAT 0.512 31 79 --- --- --- --- RFX3 5991 broad.mit.edu 37 9 3293175 3293175 + Silent SNP G G A TCGA-EJ-A8FN-01A-11D-A34U-08 TCGA-EJ-A8FN-10A-01D-A34X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4526e2b2-d20d-4290-baf5-8d331fce6902 626f7f57-e6e8-4413-8a05-942c859a6d61 g.chr9:3293175G>A ENST00000382004.3 - 7 944 c.633C>T c.(631-633)caC>caT p.H211H RFX3_ENST00000302303.1_Silent_p.H211H|RFX3_ENST00000358730.2_Silent_p.H211H NM_001282116.1|NM_134428.1 NP_001269045.1|NP_602304.1 P48380 RFX3_HUMAN regulatory factor X, 3 (influences HLA class II expression) 211 cell maturation|ciliary cell motility|cilium assembly|cilium movement involved in determination of left/right asymmetry|endocrine pancreas development|negative regulation of transcription, DNA-dependent|positive regulation of transcription from RNA polymerase II promoter|positive regulation of type B pancreatic cell development|regulation of insulin secretion nuclear chromatin protein binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|transcription regulatory region DNA binding central_nervous_system(1)|cervix(2)|endometrium(2)|kidney(11)|large_intestine(3)|lung(14)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1) 40 GBM - Glioblastoma multiforme(50;0.00124)|Lung(2;0.0337) GTTCCTGACAGTGTCGAAGGT 0.463 5 80 --- --- --- --- ADAMTSL1 92949 broad.mit.edu 37 9 18504838 18504838 + Silent SNP C C T TCGA-EJ-A8FN-01A-11D-A34U-08 TCGA-EJ-A8FN-10A-01D-A34X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4526e2b2-d20d-4290-baf5-8d331fce6902 626f7f57-e6e8-4413-8a05-942c859a6d61 g.chr9:18504838C>T ENST00000380548.4 + 2 414 c.75C>T c.(73-75)acC>acT p.T25T ADAMTSL1_ENST00000327883.7_Silent_p.T25T|ADAMTSL1_ENST00000380566.4_Silent_p.T25T|ADAMTSL1_ENST00000431052.2_Silent_p.T25T|ADAMTSL1_ENST00000276935.6_Silent_p.T25T|ADAMTSL1_ENST00000380570.4_Silent_p.T25T NM_001040272.5 NP_001035362.3 Q8N6G6 ATL1_HUMAN ADAMTS-like 1 25 proteinaceous extracellular matrix metallopeptidase activity|zinc ion binding breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|liver(2)|lung(17)|ovary(3)|prostate(2)|skin(1)|upper_aerodigestive_tract(1) 42 GBM - Glioblastoma multiforme(50;1.29e-17) GTTCCAGGACCGCACGCTCCG 0.577 5 81 --- --- --- --- ACBD5 91452 broad.mit.edu 37 10 27499985 27499985 + Missense_Mutation SNP T T C TCGA-EJ-A8FN-01A-11D-A34U-08 TCGA-EJ-A8FN-10A-01D-A34X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4526e2b2-d20d-4290-baf5-8d331fce6902 626f7f57-e6e8-4413-8a05-942c859a6d61 g.chr10:27499985T>C ENST00000396271.3 - 9 1088 c.962A>G c.(961-963)aAt>aGt p.N321S ACBD5_ENST00000375905.4_Missense_Mutation_p.N286S|ACBD5_ENST00000375888.1_Missense_Mutation_p.N330S|ACBD5_ENST00000375897.3_Missense_Mutation_p.N144S|ACBD5_ENST00000375901.1_Missense_Mutation_p.N212S|ACBD5_ENST00000476758.1_5'UTR NM_001271512.1|NM_145698.3 NP_001258441.1|NP_663736.2 Q5T8D3 ACBD5_HUMAN acyl-CoA binding domain containing 5 330 transport integral to membrane|peroxisomal membrane fatty-acyl-CoA binding breast(1)|endometrium(1)|large_intestine(3)|lung(7)|prostate(1) 13 AAATGGTCCATTGTTGGACGT 0.363 13 88 --- --- --- --- NUDT13 25961 broad.mit.edu 37 10 74881976 74881976 + Missense_Mutation SNP A A C TCGA-EJ-A8FN-01A-11D-A34U-08 TCGA-EJ-A8FN-10A-01D-A34X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4526e2b2-d20d-4290-baf5-8d331fce6902 626f7f57-e6e8-4413-8a05-942c859a6d61 g.chr10:74881976A>C ENST00000357321.4 + 4 385 c.267A>C c.(265-267)agA>agC p.R89S NUDT13_ENST00000544879.1_5'UTR|NUDT13_ENST00000537969.1_5'UTR|NUDT13_ENST00000372997.3_Missense_Mutation_p.R89S|NUDT13_ENST00000488223.1_3'UTR|NUDT13_ENST00000349051.5_Missense_Mutation_p.R89S NM_001283016.1|NM_015901.4 NP_001269945.1|NP_056985.3 Q86X67 NUD13_HUMAN nudix (nucleoside diphosphate linked moiety X)-type motif 13 89 hydrolase activity|metal ion binding large_intestine(2)|lung(5) 7 Prostate(51;0.0119) ATGCACAAAGAATAGAAGATT 0.433 5 129 --- --- --- --- NAV2 89797 broad.mit.edu 37 11 20078087 20078087 + Missense_Mutation SNP A A G TCGA-EJ-A8FN-01A-11D-A34U-08 TCGA-EJ-A8FN-10A-01D-A34X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4526e2b2-d20d-4290-baf5-8d331fce6902 626f7f57-e6e8-4413-8a05-942c859a6d61 g.chr11:20078087A>G ENST00000540292.1 + 22 4705 c.4705A>G c.(4705-4707)Aaa>Gaa p.K1569E NAV2_ENST00000311043.8_Intron|NAV2_ENST00000533917.1_Intron|NAV2_ENST00000396087.3_Missense_Mutation_p.K1638E|NAV2_ENST00000396085.1_Intron|NAV2_ENST00000360655.4_Intron|NAV2_ENST00000349880.4_Intron|NAV2_ENST00000527559.2_Missense_Mutation_p.K1567E Q8IVL1 NAV2_HUMAN neuron navigator 2 1638 Ser-rich. nucleus ATP binding|helicase activity NS(1)|breast(2)|central_nervous_system(5)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(26)|lung(38)|ovary(3)|pancreas(1)|prostate(7)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2) 116 ATCATGGGAGAAAAGTTCTGT 0.383 15 49 --- --- --- --- GLYATL2 219970 broad.mit.edu 37 11 58604621 58604621 + Silent SNP T T G TCGA-EJ-A8FN-01A-11D-A34U-08 TCGA-EJ-A8FN-10A-01D-A34X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4526e2b2-d20d-4290-baf5-8d331fce6902 626f7f57-e6e8-4413-8a05-942c859a6d61 g.chr11:58604621T>G ENST00000287275.1 - 5 733 c.343A>C c.(343-345)Aga>Cga p.R115R GLYATL2_ENST00000533636.1_5'UTR|GLYATL2_ENST00000532258.1_Silent_p.R115R NM_145016.3 NP_659453.3 Q8WU03 GLYL2_HUMAN glycine-N-acyltransferase-like 2 115 mitochondrion glycine N-acyltransferase activity breast(1)|kidney(1)|large_intestine(3)|lung(12)|ovary(1)|skin(1)|stomach(2)|upper_aerodigestive_tract(2) 23 Breast(21;0.0044)|all_epithelial(135;0.0216) Glycine(DB00145) GCAACCTTTCTTATTGCTTCA 0.398 42 86 --- --- --- --- BSX 390259 broad.mit.edu 37 11 122848488 122848488 + Missense_Mutation SNP C C A TCGA-EJ-A8FN-01A-11D-A34U-08 TCGA-EJ-A8FN-10A-01D-A34X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4526e2b2-d20d-4290-baf5-8d331fce6902 626f7f57-e6e8-4413-8a05-942c859a6d61 g.chr11:122848488C>A ENST00000343035.2 - 3 619 c.571G>T c.(571-573)Ggt>Tgt p.G191C NM_001098169.1 NP_001091639.1 Q3C1V8 BSH_HUMAN brain-specific homeobox 191 endometrium(1)|kidney(1)|large_intestine(3)|lung(3)|prostate(2) 10 Breast(109;0.00249)|Lung NSC(97;0.0177)|all_lung(97;0.0179)|Medulloblastoma(222;0.0425)|all_neural(223;0.112) BRCA - Breast invasive adenocarcinoma(274;4.88e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0361) GCCTCTGAACCGCGGGGGCTG 0.657 10 25 --- --- --- --- PPP2R5E 5529 broad.mit.edu 37 14 64006397 64006397 + Missense_Mutation SNP A A G TCGA-EJ-A8FN-01A-11D-A34U-08 TCGA-EJ-A8FN-10A-01D-A34X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4526e2b2-d20d-4290-baf5-8d331fce6902 626f7f57-e6e8-4413-8a05-942c859a6d61 g.chr14:64006397A>G ENST00000337537.3 - 2 609 c.7T>C c.(7-9)Tca>Cca p.S3P PPP2R5E_ENST00000553266.1_5'UTR|PPP2R5E_ENST00000555899.1_Missense_Mutation_p.S3P NM_001282179.1|NM_001282180.1|NM_001282181.1|NM_001282182.1|NM_006246.2 NP_001269108.1|NP_001269109.1|NP_001269110.1|NP_001269111.1|NP_006237.1 Q16537 2A5E_HUMAN protein phosphatase 2, regulatory subunit B', epsilon isoform 3 signal transduction cytoplasm|intracellular membrane-bounded organelle|protein phosphatase type 2A complex protein binding|protein phosphatase type 2A regulator activity endometrium(1)|large_intestine(2)|lung(5)|ovary(1)|pancreas(1)|prostate(3)|skin(1)|soft_tissue(1) 15 OV - Ovarian serous cystadenocarcinoma(108;0.00197)|all cancers(60;0.0153)|BRCA - Breast invasive adenocarcinoma(234;0.128) GTTGGTGCTGAGGACATATCC 0.418 14 48 --- --- --- --- BBS4 585 broad.mit.edu 37 15 73007695 73007695 + Missense_Mutation SNP T T A TCGA-EJ-A8FN-01A-11D-A34U-08 TCGA-EJ-A8FN-10A-01D-A34X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4526e2b2-d20d-4290-baf5-8d331fce6902 626f7f57-e6e8-4413-8a05-942c859a6d61 g.chr15:73007695T>A ENST00000268057.4 + 5 325 c.284T>A c.(283-285)gTt>gAt p.V95D BBS4_ENST00000542334.1_5'UTR|BBS4_ENST00000539603.1_Missense_Mutation_p.V83D|BBS4_ENST00000564239.1_3'UTR|BBS4_ENST00000395205.2_Missense_Mutation_p.V103D NM_033028.4 NP_149017.2 Q96RK4 BBS4_HUMAN Bardet-Biedl syndrome 4 95 adult behavior|brain morphogenesis|cell cycle cytokinesis|centrosome organization|cerebral cortex development|convergent extension involved in gastrulation|dendrite development|fat cell differentiation|heart looping|hippocampus development|intracellular transport|maintenance of protein location in nucleus|melanosome transport|microtubule anchoring at centrosome|neural tube closure|nonmotile primary cilium assembly|photoreceptor cell maintenance|pigment granule aggregation in cell center|positive regulation of flagellum assembly|regulation of cilium beat frequency involved in ciliary motility|regulation of cytokinesis|regulation of lipid metabolic process|retina homeostasis|retinal rod cell development|sensory perception of smell|sensory processing|spermatid development|striatum development BBSome|centriolar satellite|centriole|cilium membrane|microtubule basal body|motile cilium|nonmotile primary cilium|nucleus|pericentriolar material alpha-tubulin binding|beta-tubulin binding|dynactin binding|microtubule motor activity autonomic_ganglia(1)|biliary_tract(1)|breast(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(7)|prostate(2)|urinary_tract(1) 19 ACATGTGCAGTTCTTAGTCCT 0.433 Bardet-Biedl syndrome 16 33 --- --- --- --- MAN2C1 4123 broad.mit.edu 37 15 75651127 75651127 + Missense_Mutation SNP C C T rs140277288 byFrequency TCGA-EJ-A8FN-01A-11D-A34U-08 TCGA-EJ-A8FN-10A-01D-A34X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4526e2b2-d20d-4290-baf5-8d331fce6902 626f7f57-e6e8-4413-8a05-942c859a6d61 g.chr15:75651127C>T ENST00000565683.1 - 19 2226 c.2215G>A c.(2215-2217)Gtg>Atg p.V739M MAN2C1_ENST00000267978.5_Missense_Mutation_p.V722M|MAN2C1_ENST00000563622.1_Missense_Mutation_p.V623M|MAN2C1_ENST00000569482.1_Missense_Mutation_p.V722M NM_001256494.1 NP_001243423.1 Q9NTJ4 MA2C1_HUMAN mannosidase, alpha, class 2C, member 1 722 mannose metabolic process alpha-mannosidase activity|carbohydrate binding|protein binding|zinc ion binding central_nervous_system(4)|endometrium(4)|kidney(6)|large_intestine(6)|lung(20)|prostate(1)|stomach(1)|upper_aerodigestive_tract(2) 44 TGGTTCCCCACGGCGCCCTCA 0.572 3 41 --- --- --- --- ITFG1 81533 broad.mit.edu 37 16 47493029 47493029 + Missense_Mutation SNP A A G TCGA-EJ-A8FN-01A-11D-A34U-08 TCGA-EJ-A8FN-10A-01D-A34X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4526e2b2-d20d-4290-baf5-8d331fce6902 626f7f57-e6e8-4413-8a05-942c859a6d61 g.chr16:47493029A>G ENST00000320640.6 - 2 494 c.266T>C c.(265-267)gTa>gCa p.V89A ITFG1_ENST00000544001.2_5'UTR NM_030790.3 NP_110417.2 Q8TB96 TIP_HUMAN integrin alpha FG-GAP repeat containing 1 89 extracellular region|integral to membrane breast(1)|central_nervous_system(2)|kidney(1)|large_intestine(2)|lung(7)|ovary(2)|pancreas(1)|prostate(1)|skin(1)|urinary_tract(1) 19 all_cancers(37;0.0613)|all_lung(18;0.0543)|Lung NSC(13;0.227) AGATACCTTTACTTTGGGTTT 0.274 14 57 --- --- --- --- DYNC1LI2 1783 broad.mit.edu 37 16 66770010 66770010 + Silent SNP G G A TCGA-EJ-A8FN-01A-11D-A34U-08 TCGA-EJ-A8FN-10A-01D-A34X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4526e2b2-d20d-4290-baf5-8d331fce6902 626f7f57-e6e8-4413-8a05-942c859a6d61 g.chr16:66770010G>A ENST00000258198.2 - 5 873 c.667C>T c.(667-669)Ctg>Ttg p.L223L DYNC1LI2_ENST00000443351.2_Silent_p.L146L|DYNC1LI2_ENST00000440564.2_Silent_p.L184L|DYNC1LI2_ENST00000379482.2_Intron NM_006141.2 NP_006132.1 O43237 DC1L2_HUMAN dynein, cytoplasmic 1, light intermediate chain 2 223 transport centrosome|cytoplasmic dynein complex|microtubule ATP binding|motor activity central_nervous_system(3)|endometrium(1)|large_intestine(3)|lung(2)|ovary(1)|skin(4)|stomach(1) 15 Ovarian(137;0.0563) OV - Ovarian serous cystadenocarcinoma(108;0.0907)|Epithelial(162;0.212) GGGATCCCCAGGTTATGAGTC 0.552 4 50 --- --- --- --- KMT2B 9757 broad.mit.edu 37 19 36213342 36213342 + Missense_Mutation SNP G G A TCGA-EJ-A8FN-01A-11D-A34U-08 TCGA-EJ-A8FN-10A-01D-A34X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4526e2b2-d20d-4290-baf5-8d331fce6902 626f7f57-e6e8-4413-8a05-942c859a6d61 g.chr19:36213342G>A ENST00000222270.7 + 4 2539 c.2539G>A c.(2539-2541)Gag>Aag p.E847K KMT2B_ENST00000607650.1_RNA|KMT2B_ENST00000420124.1_Missense_Mutation_p.E847K NM_014727.1 NP_055542.1 lysine (K)-specific methyltransferase 2B GTCTGAAGATGAGTCGGTGGA 0.637 6 18 --- --- --- --- PSG4 5672 broad.mit.edu 37 19 43698504 43698504 + Missense_Mutation SNP C C T TCGA-EJ-A8FN-01A-11D-A34U-08 TCGA-EJ-A8FN-10A-01D-A34X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4526e2b2-d20d-4290-baf5-8d331fce6902 626f7f57-e6e8-4413-8a05-942c859a6d61 g.chr19:43698504C>T ENST00000405312.3 - 5 1468 c.1231G>A c.(1231-1233)Gtc>Atc p.V411I PSG4_ENST00000244295.9_Missense_Mutation_p.V318I|PSG4_ENST00000433626.2_Missense_Mutation_p.V318I NM_002780.3 NP_002771.2 Q00888 PSG4_HUMAN pregnancy specific beta-1-glycoprotein 4 411 defense response|female pregnancy extracellular region central_nervous_system(1)|endometrium(2)|large_intestine(8)|lung(10)|ovary(1)|pancreas(1)|upper_aerodigestive_tract(1) 24 Prostate(69;0.00682) GAGACTTTGACTGTGATGGAT 0.453 76 210 --- --- --- --- LILRB5 10990 broad.mit.edu 37 19 54760375 54760375 + Missense_Mutation SNP T T A TCGA-EJ-A8FN-01A-11D-A34U-08 TCGA-EJ-A8FN-10A-01D-A34X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4526e2b2-d20d-4290-baf5-8d331fce6902 626f7f57-e6e8-4413-8a05-942c859a6d61 g.chr19:54760375T>A ENST00000450632.1 - 3 409 c.332A>T c.(331-333)gAc>gTc p.D111V LILRB5_ENST00000316219.5_Missense_Mutation_p.D111V|LILRB5_ENST00000345866.6_Missense_Mutation_p.D111V|LILRB5_ENST00000449561.2_Missense_Mutation_p.D111V O75023 LIRB5_HUMAN leukocyte immunoglobulin-like receptor, subfamily B (with TM and ITIM domains), member 5 111 Ig-like C2-type 1.|Ig-like C2-type 2. cell surface receptor linked signaling pathway|defense response integral to membrane transmembrane receptor activity NS(1)|breast(1)|endometrium(3)|kidney(5)|large_intestine(12)|lung(25)|ovary(1)|pancreas(1)|prostate(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 56 all_cancers(19;0.00681)|all_epithelial(19;0.00368)|all_lung(19;0.016)|Lung NSC(19;0.0296)|Ovarian(34;0.19) GBM - Glioblastoma multiforme(193;0.105) CTCCAGGGGGTCACTGGGCTC 0.622 32 93 --- --- --- --- TTLL12 23170 broad.mit.edu 37 22 43576901 43576901 + Silent SNP C C T TCGA-EJ-A8FN-01A-11D-A34U-08 TCGA-EJ-A8FN-10A-01D-A34X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4526e2b2-d20d-4290-baf5-8d331fce6902 626f7f57-e6e8-4413-8a05-942c859a6d61 g.chr22:43576901C>T ENST00000216129.6 - 3 456 c.393G>A c.(391-393)gcG>gcA p.A131A NM_015140.3 NP_055955.1 Q14166 TTL12_HUMAN tubulin tyrosine ligase-like family, member 12 131 protein modification process tubulin-tyrosine ligase activity central_nervous_system(1)|endometrium(1)|large_intestine(1)|lung(7)|ovary(2)|prostate(1) 13 Ovarian(80;0.221)|Glioma(61;0.222) GCTGCTGGCGCGCGTGCTCCA 0.667 4 69 --- --- --- --- VCX 26609 broad.mit.edu 37 X 7811726 7811726 + Missense_Mutation SNP A A G TCGA-EJ-A8FN-01A-11D-A34U-08 TCGA-EJ-A8FN-10A-01D-A34X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4526e2b2-d20d-4290-baf5-8d331fce6902 626f7f57-e6e8-4413-8a05-942c859a6d61 g.chrX:7811726A>G ENST00000381059.3 + 3 509 c.290A>G c.(289-291)gAg>gGg p.E97G VCX_ENST00000341408.4_Missense_Mutation_p.E97G NM_013452.2 NP_038480.2 Q9H320 VCX1_HUMAN variable charge, X-linked 97 Glu-rich. chromatin organization|ribosome assembly|spermatogenesis nucleolus chromatin binding NS(1)|endometrium(4)|large_intestine(2)|lung(1)|skin(1)|upper_aerodigestive_tract(1) 10 Colorectal(8;0.0136)|Medulloblastoma(8;0.184) CCAGTGAGCGAGGGGACCCAG 0.697 4 79 --- --- --- --- L1CAM 3897 broad.mit.edu 37 X 153137810 153137810 + Splice_Site SNP C C T TCGA-EJ-A8FN-01A-11D-A34U-08 TCGA-EJ-A8FN-10A-01D-A34X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4526e2b2-d20d-4290-baf5-8d331fce6902 626f7f57-e6e8-4413-8a05-942c859a6d61 g.chrX:153137810C>T ENST00000370060.1 - 5 387 c.e5-1 L1CAM_ENST00000543994.1_Splice_Site|L1CAM_ENST00000361981.3_Splice_Site|L1CAM_ENST00000361699.4_Splice_Site|L1CAM_ENST00000538883.1_Splice_Site|L1CAM_ENST00000370057.3_Splice_Site|L1CAM_ENST00000370055.1_Splice_Site NM_001278116.1 NP_001265045.1 P32004 L1CAM_HUMAN L1 cell adhesion molecule 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) CCAGCGGAACCTGTGGGCGGA 0.647 7 9 --- --- --- --- SGCD 6444 broad.mit.edu 37 5 156186353 156186353 + Frame_Shift_Del DEL G G - TCGA-EJ-A8FN-01A-11D-A34U-08 TCGA-EJ-A8FN-10A-01D-A34X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4526e2b2-d20d-4290-baf5-8d331fce6902 626f7f57-e6e8-4413-8a05-942c859a6d61 g.chr5:156186353delG ENST00000435422.3 + 8 1309 c.822delG c.(820-822)cagfs p.Q274fs SGCD_ENST00000337851.4_Frame_Shift_Del_p.Q275fs NM_001128209.1 NP_001121681.1 Q92629 SGCD_HUMAN sarcoglycan, delta (35kDa dystrophin-associated glycoprotein) 274 cytoskeleton organization|muscle organ development cytoplasm|cytoskeleton|integral to membrane|sarcoglycan complex|sarcolemma breast(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(16)|prostate(1) 24 Renal(175;0.00488) Medulloblastoma(196;0.0378)|all_neural(177;0.106) Kidney(164;0.000171)|KIRC - Kidney renal clear cell carcinoma(164;0.000785) TCCTGTCTCAGGCAGGAGCTG 0.502 9 157 --- --- --- --- KMT2D 8085 broad.mit.edu 37 12 49445273 49445274 + Frame_Shift_Del DEL CT CT - TCGA-EJ-A8FN-01A-11D-A34U-08 TCGA-EJ-A8FN-10A-01D-A34X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4526e2b2-d20d-4290-baf5-8d331fce6902 626f7f57-e6e8-4413-8a05-942c859a6d61 g.chr12:49445273_49445274delCT ENST00000301067.7 - 10 2191_2192 c.2192_2193delAG c.(2191-2193)gagfs p.E731fs NM_003482.3 NP_003473.3 lysine (K)-specific methyltransferase 2D AGAGTTGCGGCTCCTCAGGTAG 0.688 28 59 --- --- --- --- SMARCA1 6594 broad.mit.edu 37 X 128631828 128631829 + Frame_Shift_Ins INS - - T TCGA-EJ-A8FN-01A-11D-A34U-08 TCGA-EJ-A8FN-10A-01D-A34X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4526e2b2-d20d-4290-baf5-8d331fce6902 626f7f57-e6e8-4413-8a05-942c859a6d61 g.chrX:128631828_128631829insT ENST00000371122.4 - 11 1626_1627 c.1497_1498insA c.(1495-1500)aaagaafs p.E500fs SMARCA1_ENST00000371121.3_Frame_Shift_Ins_p.E500fs|SMARCA1_ENST00000371123.1_Frame_Shift_Ins_p.E500fs NM_003069.3 NP_003060.2 P28370 SMCA1_HUMAN SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily a, member 1 500 Helicase C-terminal. ATP-dependent chromatin remodeling|brain development|neuron differentiation|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent NURF complex ATP binding|DNA binding|helicase activity|nucleosome binding|protein binding biliary_tract(1)|breast(1)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(11)|liver(1)|lung(13)|ovary(5)|prostate(1)|skin(1) 45 TCACCCTGTTCTTTGAGTTTGG 0.312 28 18 --- --- --- ---