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 C7orf10 79783 broad.mit.edu 37 7 40220558 40220558 + Missense_Mutation SNP T T C TCGA-EB-A4OZ-01A-12D-A25O-08 TCGA-EB-A4OZ-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx C2C804DA-A41F-451D-93A4-540354DD399E 8D798914-A529-40F5-BBF7-3AC7FCFD3407 g.chr7:40220558T>C ENST00000309930.5 + 2 158 c.134T>C c.(133-135)aTa>aCa p.I45T C7orf10_ENST00000401647.2_Missense_Mutation_p.I45T|C7orf10_ENST00000540834.1_Missense_Mutation_p.I38T|C7orf10_ENST00000335693.4_Missense_Mutation_p.I45T NM_001193311.1|NM_024728.2 NP_001180240.1|NP_079004.1 Q9HAC7 CG010_HUMAN chromosome 7 open reading frame 10 45 transferase activity endometrium(3)|kidney(1)|large_intestine(2)|lung(10)|ovary(2) 18 ATGAACAATATAAAGCCATTG 0.308000 17 151 0 0 1 0 0 HEATR5B 54497 broad.mit.edu 37 2 37229705 37229705 + Missense_Mutation SNP A A C TCGA-EB-A4OZ-01A-12D-A25O-08 TCGA-EB-A4OZ-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx C2C804DA-A41F-451D-93A4-540354DD399E 8D798914-A529-40F5-BBF7-3AC7FCFD3407 g.chr2:37229705A>C ENST00000233099.5 - 32 5156 c.5061T>G c.(5059-5061)gaT>gaG p.D1687E HEATR5B_ENST00000354531.2_Intron NM_019024.1 NP_061897.1 Q9P2D3 HTR5B_HUMAN HEAT repeat containing 5B 1687 binding breast(3)|cervix(3)|endometrium(3)|kidney(3)|large_intestine(11)|lung(31)|ovary(5)|pancreas(1)|prostate(1)|skin(10)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(3) 77 all_hematologic(82;0.21) CTTTTTCCATATCATCTTCAT 0.378000 5 40 0 0 1 0 0 ANKRD11 29123 broad.mit.edu 37 16 89351708 89351708 + Missense_Mutation SNP C C G TCGA-EB-A4OZ-01A-12D-A25O-08 TCGA-EB-A4OZ-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx C2C804DA-A41F-451D-93A4-540354DD399E 8D798914-A529-40F5-BBF7-3AC7FCFD3407 g.chr16:89351708C>G ENST00000301030.4 - 9 1702 c.1242G>C c.(1240-1242)gaG>gaC p.E414D ANKRD11_ENST00000378330.2_Missense_Mutation_p.E414D NM_001256183.1|NM_013275.5 NP_001243112.1|NP_037407.4 Q6UB99 ANR11_HUMAN ankyrin repeat domain 11 414 nucleus breast(4)|central_nervous_system(3)|endometrium(17)|kidney(2)|large_intestine(18)|lung(20)|ovary(6)|pancreas(1)|prostate(2)|skin(6)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 83 all_hematologic(23;0.00824)|Colorectal(91;0.0475) Epithelial(1;5.33e-11)|all cancers(4;2.6e-09)|OV - Ovarian serous cystadenocarcinoma(4;2.29e-07)|BRCA - Breast invasive adenocarcinoma(80;0.0142) CACTCGCGTCCTCCTCGTCCG 0.493000 6 79 0 0 1 0 0 ZSCAN5A 79149 broad.mit.edu 37 19 56733688 56733688 + Silent SNP C C A TCGA-EB-A4OZ-01A-12D-A25O-08 TCGA-EB-A4OZ-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx C2C804DA-A41F-451D-93A4-540354DD399E 8D798914-A529-40F5-BBF7-3AC7FCFD3407 g.chr19:56733688C>A ENST00000587340.1 - 7 1442 c.747G>T c.(745-747)ctG>ctT p.L249L ZSCAN5A_ENST00000391713.1_Silent_p.L249L|ZSCAN5A_ENST00000254165.3_Silent_p.L132L|ZSCAN5A_ENST00000587492.1_Silent_p.L103L|ZSCAN5A_ENST00000592355.1_Silent_p.L248L Q9BUG6 ZSA5A_HUMAN zinc finger and SCAN domain containing 5A 249 viral reproduction nucleus DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding autonomic_ganglia(1)|breast(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(5)|liver(1)|lung(12)|ovary(1)|skin(6)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(2) 37 TTGCTCTCACCAGATCTGCTG 0.473000 9 106 0.000673444 0.000761285 1 1 0 CDH6 1004 broad.mit.edu 37 5 31302285 31302285 + Missense_Mutation SNP C C A TCGA-EB-A4OZ-01A-12D-A25O-08 TCGA-EB-A4OZ-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx C2C804DA-A41F-451D-93A4-540354DD399E 8D798914-A529-40F5-BBF7-3AC7FCFD3407 g.chr5:31302285C>A ENST00000265071.2 + 6 1144 c.879C>A c.(877-879)agC>agA p.S293R CDH6_ENST00000514738.1_Missense_Mutation_p.S238R NM_004932.3 NP_004923.1 P55285 CADH6_HUMAN cadherin 6, type 2, K-cadherin (fetal kidney) 293 Cadherin 3. adherens junction organization|cell junction assembly|homophilic cell adhesion cytoplasm|integral to membrane|nucleus|plasma membrane calcium ion binding NS(3)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(42)|ovary(4)|prostate(6)|skin(7)|upper_aerodigestive_tract(2)|urinary_tract(1) 77 TCAAAGCCAGCGACGCTGATG 0.458000 3 37 1 1 1 1 0 ACSM5 54988 broad.mit.edu 37 16 20435364 20435364 + Silent SNP C C A TCGA-EB-A4OZ-01A-12D-A25O-08 TCGA-EB-A4OZ-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx C2C804DA-A41F-451D-93A4-540354DD399E 8D798914-A529-40F5-BBF7-3AC7FCFD3407 g.chr16:20435364C>A ENST00000331849.4 + 6 1041 c.894C>A c.(892-894)ccC>ccA p.P298P NM_017888.2 NP_060358.2 Q6NUN0 ACSM5_HUMAN acyl-CoA synthetase medium-chain family member 5 298 fatty acid metabolic process mitochondrial matrix ATP binding|butyrate-CoA ligase activity|GTP binding|metal ion binding breast(1)|endometrium(6)|kidney(2)|large_intestine(6)|lung(28)|ovary(3)|prostate(1)|skin(3)|urinary_tract(1) 51 ATGAGCTGCCCCGAGTTGATG 0.463000 5 53 0.014758 0.0156615 1 1 0 ABCC12 94160 broad.mit.edu 37 16 48119613 48119613 + Missense_Mutation SNP A A G TCGA-EB-A4OZ-01A-12D-A25O-08 TCGA-EB-A4OZ-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx C2C804DA-A41F-451D-93A4-540354DD399E 8D798914-A529-40F5-BBF7-3AC7FCFD3407 g.chr16:48119613A>G ENST00000311303.3 - 27 4064 c.3719T>C c.(3718-3720)aTg>aCg p.M1240T ABCC12_ENST00000416054.1_3'UTR|ABCC12_ENST00000448542.1_3'UTR|ABCC12_ENST00000532355.1_5'UTR NM_033226.2 NP_150229.2 Q96J65 MRP9_HUMAN ATP-binding cassette, sub-family C (CFTR/MRP), member 12 1240 ABC transporter 2. integral to membrane ATP binding|ATPase activity, coupled to transmembrane movement of substances NS(1)|breast(5)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(15)|liver(1)|lung(43)|ovary(2)|prostate(3)|skin(7)|urinary_tract(1) 90 all_cancers(37;0.0474)|all_lung(18;0.047) TGGGAGTTTCATTATCTACAA 0.423000 7 73 0 0 1 0 0 CD5L 922 broad.mit.edu 37 1 157803157 157803157 + Silent SNP C C T TCGA-EB-A4OZ-01A-12D-A25O-08 TCGA-EB-A4OZ-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx C2C804DA-A41F-451D-93A4-540354DD399E 8D798914-A529-40F5-BBF7-3AC7FCFD3407 g.chr1:157803157C>T ENST00000368174.4 - 5 960 c.864G>A c.(862-864)ggG>ggA p.G288G NM_005894.2 NP_005885.1 O43866 CD5L_HUMAN CD5 molecule-like 288 SRCR 3. apoptosis|cellular defense response extracellular space|membrane scavenger receptor activity NS(1)|breast(4)|central_nervous_system(1)|endometrium(6)|kidney(2)|large_intestine(9)|lung(25)|ovary(1)|prostate(1)|stomach(1)|urinary_tract(1) 52 all_hematologic(112;0.0378) LUSC - Lung squamous cell carcinoma(543;0.24) AGAGGGACTTCCCACAGCCCA 0.592000 9 106 0 0 1 0 0 EYA1 2138 broad.mit.edu 37 8 72234010 72234010 + Missense_Mutation SNP G G C TCGA-EB-A4OZ-01A-12D-A25O-08 TCGA-EB-A4OZ-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx C2C804DA-A41F-451D-93A4-540354DD399E 8D798914-A529-40F5-BBF7-3AC7FCFD3407 g.chr8:72234010G>C ENST00000340726.3 - 6 1016 c.377C>G c.(376-378)aCg>aGg p.T126R EYA1_ENST00000388742.4_Missense_Mutation_p.T126R|EYA1_ENST00000388741.2_Missense_Mutation_p.T92R|EYA1_ENST00000388740.3_Missense_Mutation_p.T93R|EYA1_ENST00000419131.1_Missense_Mutation_p.T126R|EYA1_ENST00000303824.7_Missense_Mutation_p.T125R|EYA1_ENST00000388743.2_Missense_Mutation_p.T125R NM_000503.4 NP_000494.2 Q99502 EYA1_HUMAN eyes absent homolog 1 (Drosophila) 126 double-strand break repair|histone dephosphorylation|positive regulation of DNA repair|protein sumoylation|regulation of transcription, DNA-dependent|response to ionizing radiation|sensory perception of sound|transcription, DNA-dependent cytoplasm|nucleus metal ion binding|protein tyrosine phosphatase activity NS(2)|breast(3)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(8)|lung(15)|ovary(4)|prostate(2)|skin(3)|upper_aerodigestive_tract(2) 44 Breast(64;0.046) Epithelial(68;0.0837)|all cancers(69;0.247) CTGTGGGTACGTGGCATAGGC 0.502000 4 58 0 0 1 0 0 MFSD7 84179 broad.mit.edu 37 4 679889 679889 + Missense_Mutation SNP A A T TCGA-EB-A4OZ-01A-12D-A25O-08 TCGA-EB-A4OZ-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx C2C804DA-A41F-451D-93A4-540354DD399E 8D798914-A529-40F5-BBF7-3AC7FCFD3407 g.chr4:679889A>T ENST00000322224.4 - 3 810 c.497T>A c.(496-498)cTc>cAc p.L166H MFSD7_ENST00000404286.2_Missense_Mutation_p.L166H|MFSD7_ENST00000513740.1_5'UTR|MFSD7_ENST00000515118.1_Intron|MFSD7_ENST00000503156.1_Missense_Mutation_p.L102H|MFSD7_ENST00000347950.5_Intron Q6UXD7 MFSD7_HUMAN major facilitator superfamily domain containing 7 166 transmembrane transport integral to membrane cervix(1)|kidney(2)|lung(4)|ovary(1)|prostate(1)|skin(1)|urinary_tract(1) 11 CATGGTGGCGAGCATGTTGGC 0.662000 4 36 0 0 1 0 0 STAC 6769 broad.mit.edu 37 3 36484932 36484932 + Missense_Mutation SNP G G A TCGA-EB-A4OZ-01A-12D-A25O-08 TCGA-EB-A4OZ-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx C2C804DA-A41F-451D-93A4-540354DD399E 8D798914-A529-40F5-BBF7-3AC7FCFD3407 g.chr3:36484932G>A ENST00000273183.3 + 2 488 c.188G>A c.(187-189)cGa>cAa p.R63Q STAC_ENST00000476388.1_3'UTR|STAC_ENST00000457375.2_Missense_Mutation_p.R63Q NM_003149.1 NP_003140.1 Q99469 STAC_HUMAN SH3 and cysteine rich domain 63 intracellular signal transduction cytoplasm|soluble fraction metal ion binding p.R63Q(1) endometrium(5)|large_intestine(9)|lung(10)|ovary(1)|pancreas(1)|prostate(1)|skin(5) 32 TTCTTCCAGCGAACCAACAGC 0.512000 6 55 0 0 1 0 0 NCOA3 8202 broad.mit.edu 37 20 46279860 46279860 + Silent SNP G G A rs151060280 byFrequency TCGA-EB-A4OZ-01A-12D-A25O-08 TCGA-EB-A4OZ-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx C2C804DA-A41F-451D-93A4-540354DD399E 8D798914-A529-40F5-BBF7-3AC7FCFD3407 g.chr20:46279860G>A ENST00000372004.3 + 20 3990 c.3774G>A c.(3772-3774)caG>caA p.Q1258Q NCOA3_ENST00000341724.6_Silent_p.Q1188Q|NCOA3_ENST00000371997.3_Silent_p.Q1253Q|NCOA3_ENST00000371998.3_Silent_p.Q1262Q NM_001174087.1|NM_001174088.1|NM_006534.3|NM_181659.2 NP_001167558.1|NP_001167559.1|NP_006525.2|NP_858045.1 Q9Y6Q9 NCOA3_HUMAN nuclear receptor coactivator 3 1262 Acetyltransferase.|Poly-Gln. androgen receptor signaling pathway|cellular lipid metabolic process|positive regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent nucleoplasm androgen receptor binding|histone acetyltransferase activity|ligand-dependent nuclear receptor binding|protein N-terminus binding|signal transducer activity|thyroid hormone receptor binding p.Q1262Q(1) breast(3)|endometrium(3)|kidney(4)|large_intestine(12)|lung(19)|ovary(4)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1) 52 agcagcagcagcagcaacagc 0.567000 5 52 0 0 1 0 0 CEP164 22897 broad.mit.edu 37 11 117266286 117266286 + Silent SNP G G A TCGA-EB-A4OZ-01A-12D-A25O-08 TCGA-EB-A4OZ-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx C2C804DA-A41F-451D-93A4-540354DD399E 8D798914-A529-40F5-BBF7-3AC7FCFD3407 g.chr11:117266286G>A ENST00000278935.3 + 24 3084 c.2937G>A c.(2935-2937)caG>caA p.Q979Q CEP164_ENST00000533706.1_3'UTR NM_014956.4 NP_055771.4 Q9UPV0 CE164_HUMAN centrosomal protein 164kDa 979 cell division|DNA repair|G2/M transition of mitotic cell cycle|mitosis centriole|cytosol|nucleus breast(3)|central_nervous_system(1)|kidney(7)|large_intestine(12)|lung(18)|ovary(3)|prostate(3) 47 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;4e-05)|Epithelial(105;0.0008) CCCATCAGCAGCTGGAGGAGG 0.567000 3 25 0 0 1 0 0 ATP6V1B1 525 broad.mit.edu 37 2 71191922 71191922 + Missense_Mutation SNP G G C TCGA-EB-A4OZ-01A-12D-A25O-08 TCGA-EB-A4OZ-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx C2C804DA-A41F-451D-93A4-540354DD399E 8D798914-A529-40F5-BBF7-3AC7FCFD3407 g.chr2:71191922G>C ENST00000234396.4 + 13 1378 c.1305G>C c.(1303-1305)gaG>gaC p.E435D ATP6V1B1_ENST00000412314.1_Missense_Mutation_p.E418D|AC007040.11_ENST00000606025.1_Intron NM_001692.3 NP_001683.2 P15313 VATB1_HUMAN ATPase, H+ transporting, lysosomal 56/58kDa, V1 subunit B1 435 ATP hydrolysis coupled proton transport|calcium ion homeostasis|cellular iron ion homeostasis|excretion|inner ear morphogenesis|insulin receptor signaling pathway|ossification|pH reduction|sensory perception of sound|transferrin transport apical plasma membrane|basolateral plasma membrane|cytosol|endomembrane system|lateral plasma membrane|microvillus|proton-transporting V-type ATPase, V1 domain|vacuolar proton-transporting V-type ATPase complex ATP binding|hydrogen ion transporting ATP synthase activity, rotational mechanism|proton-transporting ATPase activity, rotational mechanism endometrium(5)|kidney(1)|large_intestine(5)|liver(1)|lung(5)|prostate(1)|skin(1) 19 TAGTTGGGGAGGAGGCGCTCA 0.607000 OREG0014686 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 4 50 0 0 1 0 0 AFF3 3899 broad.mit.edu 37 2 100210296 100210296 + Silent SNP C C T TCGA-EB-A4OZ-01A-12D-A25O-08 TCGA-EB-A4OZ-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx C2C804DA-A41F-451D-93A4-540354DD399E 8D798914-A529-40F5-BBF7-3AC7FCFD3407 g.chr2:100210296C>T ENST00000317233.4 - 14 2062 c.1827G>A c.(1825-1827)gcG>gcA p.A609A AFF3_ENST00000409579.1_Silent_p.A634A|AFF3_ENST00000356421.2_Silent_p.A634A|AFF3_ENST00000409236.1_Silent_p.A609A NM_002285.2 NP_002276.2 P51826 AFF3_HUMAN AF4/FMR2 family, member 3 609 multicellular organismal development|regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding NS(1)|breast(3)|central_nervous_system(1)|cervix(3)|endometrium(9)|kidney(4)|large_intestine(20)|liver(1)|lung(28)|ovary(3)|pancreas(1)|prostate(4)|skin(5)|urinary_tract(3) 86 CGTCCGCGGCCGCGGGCTCCT 0.746000 6 41 0 0 1 0 0 CHEK2 11200 broad.mit.edu 37 22 29091841 29091841 + Silent SNP G G A rs146546850 byFrequency TCGA-EB-A4OZ-01A-12D-A25O-08 TCGA-EB-A4OZ-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx C2C804DA-A41F-451D-93A4-540354DD399E 8D798914-A529-40F5-BBF7-3AC7FCFD3407 g.chr22:29091841G>A ENST00000544772.1 - 12 1889 c.453C>T c.(451-453)tcC>tcT p.S151S CHEK2_ENST00000382578.1_Silent_p.S281S|CHEK2_ENST00000402731.1_Silent_p.S343S|CHEK2_ENST00000328354.6_Silent_p.S372S|CHEK2_ENST00000403642.1_Silent_p.S281S|CHEK2_ENST00000382565.1_Intron|CHEK2_ENST00000382580.2_Silent_p.S415S|CHEK2_ENST00000405598.1_Silent_p.S372S|CHEK2_ENST00000382566.1_3'UTR|CHEK2_ENST00000404276.1_Silent_p.S372S|CHEK2_ENST00000348295.3_Silent_p.S343S NM_001257387.1 NP_001244316.1 O96017 CHK2_HUMAN checkpoint kinase 2 372 FHA. cell cycle|DNA damage checkpoint|DNA damage response, signal transduction resulting in induction of apoptosis|replicative senescence PML body ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity p.S372S(8) central_nervous_system(17)|endometrium(2)|kidney(11)|large_intestine(2)|lung(11)|ovary(1)|prostate(4)|stomach(2) 50 CCAAAATCTTGGAGTGCCCAA 0.413000 F breast Direct reversal of damage;Other conserved DNA damage response genes 3 67 0 0 1 0 0 TUBA1B 10376 broad.mit.edu 37 12 49523049 49523049 + Silent SNP A A G rs1057072 TCGA-EB-A4OZ-01A-12D-A25O-08 TCGA-EB-A4OZ-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx C2C804DA-A41F-451D-93A4-540354DD399E 8D798914-A529-40F5-BBF7-3AC7FCFD3407 g.chr12:49523049A>G ENST00000336023.5 - 3 445 c.351T>C c.(349-351)ctT>ctC p.L117L RP11-386G11.10_ENST00000547387.1_RNA NM_006082.2 NP_006073.2 P68363 TBA1B_HUMAN tubulin, alpha 1b 117 'de novo' posttranslational protein folding|microtubule-based movement|protein polymerization cytoplasm|microtubule GTP binding|GTPase activity|protein binding breast(2)|cervix(1)|endometrium(3)|large_intestine(2)|lung(4) 12 GGTCCAACACAAGGTCAATGA 0.488000 7 179 0 0 1 0 0 PARP6 56965 broad.mit.edu 37 15 72535015 72535015 + Missense_Mutation SNP C C A TCGA-EB-A4OZ-01A-12D-A25O-08 TCGA-EB-A4OZ-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx C2C804DA-A41F-451D-93A4-540354DD399E 8D798914-A529-40F5-BBF7-3AC7FCFD3407 g.chr15:72535015C>A ENST00000569795.1 - 21 2274 c.1587G>T c.(1585-1587)atG>atT p.M529I PARP6_ENST00000260376.7_Missense_Mutation_p.C506F|PARP6_ENST00000287196.9_Missense_Mutation_p.M529I|PARP6_ENST00000413097.2_5'UTR Q2NL67 PARP6_HUMAN poly (ADP-ribose) polymerase family, member 6 529 PARP catalytic. NAD+ ADP-ribosyltransferase activity NS(1)|breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(8)|skin(1)|urinary_tract(1) 18 CCTTGGAGGGCATCCTGTGCT 0.463000 7 69 0.00448238 0.00495923 1 1 0 ZNF214 7761 broad.mit.edu 37 11 7022511 7022511 + Missense_Mutation SNP T T G TCGA-EB-A4OZ-01A-12D-A25O-08 TCGA-EB-A4OZ-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx C2C804DA-A41F-451D-93A4-540354DD399E 8D798914-A529-40F5-BBF7-3AC7FCFD3407 g.chr11:7022511T>G ENST00000278314.4 - 3 718 c.403A>C c.(403-405)Aat>Cat p.N135H ZNF214_ENST00000536068.1_Missense_Mutation_p.N135H NM_013249.2 NP_037381.2 Q9UL59 ZN214_HUMAN zinc finger protein 214 135 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding NS(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(6)|lung(10)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1) 29 Epithelial(150;3.87e-08)|BRCA - Breast invasive adenocarcinoma(625;0.081) GGCATAAAATTTTTATATTTT 0.398000 6 146 0 0 1 0 0 CHEK2 11200 broad.mit.edu 37 22 29091840 29091840 + Missense_Mutation SNP T T C rs142470496 byFrequency TCGA-EB-A4OZ-01A-12D-A25O-08 TCGA-EB-A4OZ-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx C2C804DA-A41F-451D-93A4-540354DD399E 8D798914-A529-40F5-BBF7-3AC7FCFD3407 g.chr22:29091840T>C ENST00000544772.1 - 12 1890 c.454A>G c.(454-456)Aag>Gag p.K152E CHEK2_ENST00000382578.1_Missense_Mutation_p.K282E|CHEK2_ENST00000402731.1_Missense_Mutation_p.K344E|CHEK2_ENST00000328354.6_Missense_Mutation_p.K373E|CHEK2_ENST00000403642.1_Missense_Mutation_p.K282E|CHEK2_ENST00000382565.1_Intron|CHEK2_ENST00000382580.2_Missense_Mutation_p.K416E|CHEK2_ENST00000405598.1_Missense_Mutation_p.K373E|CHEK2_ENST00000382566.1_3'UTR|CHEK2_ENST00000404276.1_Missense_Mutation_p.K373E|CHEK2_ENST00000348295.3_Missense_Mutation_p.K344E NM_001257387.1 NP_001244316.1 O96017 CHK2_HUMAN checkpoint kinase 2 373 FHA. cell cycle|DNA damage checkpoint|DNA damage response, signal transduction resulting in induction of apoptosis|replicative senescence PML body ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity p.K373E(9) central_nervous_system(17)|endometrium(2)|kidney(11)|large_intestine(2)|lung(11)|ovary(1)|prostate(4)|stomach(2) 50 CCCAAAATCTTGGAGTGCCCA 0.418000 F breast Direct reversal of damage;Other conserved DNA damage response genes 3 68 0 0 1 0 0 GAGE2A 729447 broad.mit.edu 37 X 49355893 49355893 + Missense_Mutation SNP C C G rs147803166 by1000genomes TCGA-EB-A4OZ-01A-12D-A25O-08 TCGA-EB-A4OZ-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx C2C804DA-A41F-451D-93A4-540354DD399E 8D798914-A529-40F5-BBF7-3AC7FCFD3407 g.chrX:49355893C>G ENST00000362097.1 + 3 258 c.175C>G c.(175-177)Cag>Gag p.Q59E NM_001127212.1 NP_001120684.1 G antigen 2A p.Q59E(8) endometrium(4) 4 Ovarian(276;0.236) TCAGGAGGGACAGGATGAGGG 0.562000 6 763 0 0 1 0 0 PCSK5 5125 broad.mit.edu 37 9 78790192 78790192 + Missense_Mutation SNP C C G TCGA-EB-A4OZ-01A-12D-A25O-08 TCGA-EB-A4OZ-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx C2C804DA-A41F-451D-93A4-540354DD399E 8D798914-A529-40F5-BBF7-3AC7FCFD3407 g.chr9:78790192C>G ENST00000376767.3 + 14 2559 c.2047C>G c.(2047-2049)Cga>Gga p.R683G PCSK5_ENST00000376752.4_Intron|PCSK5_ENST00000545128.1_Intron Q92824 PCSK5_HUMAN proprotein convertase subtilisin/kexin type 5 0 CRM (Cys-rich motif). anterior/posterior pattern formation|cell-cell signaling|cytokine biosynthetic process|embryo implantation|embryonic digestive tract development|embryonic skeletal system development|heart development|kidney development|limb morphogenesis|nerve growth factor processing|nerve growth factor receptor signaling pathway|peptide biosynthetic process|renin secretion into blood stream|respiratory tube development|signal peptide processing|viral assembly, maturation, egress, and release extracellular space|Golgi lumen|stored secretory granule peptide binding|serine-type endopeptidase activity NS(1)|breast(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(7)|liver(2)|lung(25)|ovary(2)|pancreas(1)|prostate(2)|skin(3) 55 ggaatggaatcgaatcgaatc 0.373000 3 2 0 0 1 0 0 CACNA1S 779 broad.mit.edu 37 1 201081402 201081402 + Missense_Mutation SNP C C A TCGA-EB-A4OZ-01A-12D-A25O-08 TCGA-EB-A4OZ-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx C2C804DA-A41F-451D-93A4-540354DD399E 8D798914-A529-40F5-BBF7-3AC7FCFD3407 g.chr1:201081402C>A ENST00000362061.3 - 1 292 c.66G>T c.(64-66)gaG>gaT p.E22D CACNA1S_ENST00000367338.3_Missense_Mutation_p.E22D NM_000069.2 NP_000060.2 Q13698 CAC1S_HUMAN calcium channel, voltage-dependent, L type, alpha 1S subunit 22 axon guidance I band|T-tubule|voltage-gated calcium channel complex high voltage-gated calcium channel activity NS(2)|breast(4)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(13)|large_intestine(19)|lung(37)|ovary(6)|prostate(3)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(2) 102 Magnesium Sulfate(DB00653)|Verapamil(DB00661) TTGGCAGAATCTCAGGAACTG 0.582000 10 101 7.48243e-07 8.84287e-07 1 1 0 AMD1 262 broad.mit.edu 37 6 111210061 111210061 + Splice_Site SNP G G C TCGA-EB-A4OZ-01A-12D-A25O-08 TCGA-EB-A4OZ-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx C2C804DA-A41F-451D-93A4-540354DD399E 8D798914-A529-40F5-BBF7-3AC7FCFD3407 g.chr6:111210061G>C ENST00000368885.3 + 3 535 c.197_splice c.e3-1 p.E67_splice AMD1_ENST00000368876.1_5'UTR|AMD1_ENST00000368877.5_Splice_Site_p.E38_splice|AMD1_ENST00000451850.2_Intron|AMD1_ENST00000368882.3_Intron NM_001634.4 NP_001625.2 P17707 DCAM_HUMAN adenosylmethionine decarboxylase 1 67 Cleavage (non-hydrolytic); by autolysis. spermidine biosynthetic process|spermine biosynthetic process cytosol adenosylmethionine decarboxylase activity breast(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(2)|upper_aerodigestive_tract(2) 8 all_cancers(87;3.83e-05)|Acute lymphoblastic leukemia(125;2.13e-07)|all_hematologic(75;5.28e-06)|all_epithelial(87;0.00225)|Colorectal(196;0.0209) OV - Ovarian serous cystadenocarcinoma(136;0.0522)|Epithelial(106;0.111)|all cancers(137;0.143) S-Adenosylmethionine(DB00118) CAACTGCAGTGAGAGTAGCAT 0.383000 10 63 0 0 1 0 0 NUMB 8650 broad.mit.edu 37 14 73743661 73743661 + Silent SNP C C A TCGA-EB-A4OZ-01A-12D-A25O-08 TCGA-EB-A4OZ-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx C2C804DA-A41F-451D-93A4-540354DD399E 8D798914-A529-40F5-BBF7-3AC7FCFD3407 g.chr14:73743661C>A ENST00000556772.1 - 7 3436 c.1149G>T c.(1147-1149)gtG>gtT p.V383V NUMB_ENST00000557597.1_Silent_p.V516V|NUMB_ENST00000554546.1_Silent_p.V468V|NUMB_ENST00000555394.1_Silent_p.V479V|NUMB_ENST00000355058.3_Silent_p.V527V|NUMB_ENST00000555738.2_Silent_p.V370V|NUMB_ENST00000560335.1_Silent_p.V381V|NUMB_ENST00000554521.2_Silent_p.V321V|NUMB_ENST00000559312.1_Silent_p.V332V|NUMB_ENST00000356296.4_Silent_p.V479V|NUMB_ENST00000544991.3_Silent_p.V332V|NUMB_ENST00000555238.1_Silent_p.V527V|NUMB_ENST00000454166.4_Silent_p.V381V|NUMB_ENST00000359560.3_Silent_p.V516V|NUMB_ENST00000535282.1_Silent_p.V516V P49757 NUMB_HUMAN numb homolog (Drosophila) 527 axon guidance|lateral ventricle development|neuroblast division in subventricular zone|positive regulation of neurogenesis integral to plasma membrane breast(2)|central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(4)|lung(8)|ovary(3)|prostate(1)|skin(3)|urinary_tract(1) 28 BRCA - Breast invasive adenocarcinoma(234;0.00471)|OV - Ovarian serous cystadenocarcinoma(108;0.161) GAGTGATGCCCACCACAGGCA 0.617000 4 37 0.00909568 0.00985365 1 1 0 SPTB 6710 broad.mit.edu 37 14 65239464 65239464 + Missense_Mutation SNP G G T TCGA-EB-A4OZ-01A-12D-A25O-08 TCGA-EB-A4OZ-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx C2C804DA-A41F-451D-93A4-540354DD399E 8D798914-A529-40F5-BBF7-3AC7FCFD3407 g.chr14:65239464G>T ENST00000389722.3 - 25 5440 c.5387C>A c.(5386-5388)tCc>tAc p.S1796Y SPTB_ENST00000542895.1_Missense_Mutation_p.S1796Y|SPTB_ENST00000389720.3_Missense_Mutation_p.S1796Y|SPTB_ENST00000389721.5_Missense_Mutation_p.S1796Y|SPTB_ENST00000556626.1_Missense_Mutation_p.S1796Y NM_001024858.2 NP_001020029.1 P11277 SPTB1_HUMAN spectrin, beta, erythrocytic 1796 actin filament capping|axon guidance cell surface|cytosol|intrinsic to internal side of plasma membrane|protein complex|spectrin|spectrin-associated cytoskeleton actin filament binding|structural constituent of cytoskeleton breast(5)|central_nervous_system(4)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(18)|lung(36)|ovary(8)|pancreas(1)|prostate(4)|skin(10)|urinary_tract(3) 106 all_lung(585;4.15e-09) all cancers(60;4.33e-34)|OV - Ovarian serous cystadenocarcinoma(108;8.32e-20)|BRCA - Breast invasive adenocarcinoma(234;0.0628) CAGGTCATAGGAGGCGGCCAG 0.662000 12 72 5.50884e-06 6.36577e-06 1 1 0 HDAC9 9734 broad.mit.edu 37 7 18767317 18767317 + Missense_Mutation SNP C C T TCGA-EB-A4OZ-01A-12D-A25O-08 TCGA-EB-A4OZ-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx C2C804DA-A41F-451D-93A4-540354DD399E 8D798914-A529-40F5-BBF7-3AC7FCFD3407 g.chr7:18767317C>T ENST00000406451.3 + 13 1987 c.1837C>T c.(1837-1839)Cct>Tct p.P613S HDAC9_ENST00000401921.1_Missense_Mutation_p.P572S|HDAC9_ENST00000441542.2_Missense_Mutation_p.P616S|HDAC9_ENST00000432645.2_Missense_Mutation_p.P613S NM_178423.1|NM_178425.2 NP_848510.1|NP_848512.1 Q9UKV0 HDAC9_HUMAN histone deacetylase 9 613 B cell differentiation|cellular response to insulin stimulus|heart development|histone H3 deacetylation|histone H4 deacetylation|inflammatory response|negative regulation of transcription from RNA polymerase II promoter|negative regulation of transcription, DNA-dependent|peptidyl-lysine deacetylation|positive regulation of cell migration involved in sprouting angiogenesis|regulation of skeletal muscle fiber development|transcription, DNA-dependent cytoplasm|histone deacetylase complex|histone methyltransferase complex|transcription factor complex histone deacetylase activity (H3-K16 specific)|histone deacetylase binding|NAD-dependent histone deacetylase activity (H3-K14 specific)|NAD-dependent histone deacetylase activity (H3-K9 specific)|NAD-dependent histone deacetylase activity (H4-K16 specific)|protein binding|protein kinase C binding|repressing transcription factor binding|transcription corepressor activity breast(3)|central_nervous_system(4)|cervix(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(18)|liver(2)|lung(37)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2) 82 all_lung(11;0.187) Valproic Acid(DB00313) TCACTCTTCCCCTGCTGCCTC 0.582000 3 12 0 0 1 0 0 COG2 22796 broad.mit.edu 37 1 230807286 230807286 + Missense_Mutation SNP T T G TCGA-EB-A4OZ-01A-12D-A25O-08 TCGA-EB-A4OZ-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx C2C804DA-A41F-451D-93A4-540354DD399E 8D798914-A529-40F5-BBF7-3AC7FCFD3407 g.chr1:230807286T>G ENST00000534989.1 + 8 957 c.622T>G c.(622-624)Tct>Gct p.S208A COG2_ENST00000535166.1_Missense_Mutation_p.S151A|COG2_ENST00000494371.1_3'UTR|COG2_ENST00000366668.3_Missense_Mutation_p.S267A|COG2_ENST00000366669.4_Missense_Mutation_p.S267A Q14746 COG2_HUMAN component of oligomeric golgi complex 2 267 Golgi organization|intra-Golgi vesicle-mediated transport|intracellular protein transport|oligosaccharide biosynthetic process|protein glycosylation Golgi membrane|Golgi stack|Golgi transport complex protein binding|protein transporter activity NS(1)|cervix(1)|endometrium(1)|large_intestine(6)|lung(11)|prostate(2)|skin(2)|urinary_tract(3) 27 Breast(184;0.0871)|Ovarian(103;0.183) Prostate(94;0.178) GTTTGTTGAATCTCATCCCAA 0.373000 19 95 0 0 1 0 0 BCRP7 100133163 broad.mit.edu 37 22 18844900 18844900 + RNA SNP C C T TCGA-EB-A4OZ-01A-12D-A25O-08 TCGA-EB-A4OZ-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx C2C804DA-A41F-451D-93A4-540354DD399E 8D798914-A529-40F5-BBF7-3AC7FCFD3407 g.chr22:18844900C>T ENST00000412938.1 + 0 3150 ACAGCTTCAGCGTGCCTGCGA 0.577000 4 58 0 0 1 0 0 RAB11FIP4 84440 broad.mit.edu 37 17 29848969 29848969 + Silent SNP C C T TCGA-EB-A4OZ-01A-12D-A25O-08 TCGA-EB-A4OZ-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx C2C804DA-A41F-451D-93A4-540354DD399E 8D798914-A529-40F5-BBF7-3AC7FCFD3407 g.chr17:29848969C>T ENST00000325874.8 + 6 1024 c.795C>T c.(793-795)taC>taT p.Y265Y RAB11FIP4_ENST00000394744.2_Silent_p.Y163Y NM_032932.3 NP_116321.2 Q86YS3 RFIP4_HUMAN RAB11 family interacting protein 4 (class II) 265 Necessary for interaction with RAB11A, subcellular location, homo- or heterooligomerization. cytokinesis|interspecies interaction between organisms|protein transport cleavage furrow|endocytic vesicle|midbody|recycling endosome membrane ADP-ribosylation factor binding|calcium ion binding|protein homodimerization activity|Rab GTPase binding endometrium(2)|kidney(1)|large_intestine(5)|lung(3)|pancreas(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 19 all_cancers(10;3.62e-13)|all_epithelial(10;0.000387)|all_lung(9;0.0132)|Breast(31;0.014)|all_hematologic(16;0.015)|Myeloproliferative disorder(56;0.0255)|Acute lymphoblastic leukemia(14;0.0259)|Ovarian(249;0.0423)|Lung NSC(157;0.066) GGCACGTGTACAACAGCGAAT 0.507000 6 72 0 0 1 0 0 OR4A5 81318 broad.mit.edu 37 11 51412296 51412296 + Missense_Mutation SNP A A C TCGA-EB-A4OZ-01A-12D-A25O-08 TCGA-EB-A4OZ-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx C2C804DA-A41F-451D-93A4-540354DD399E 8D798914-A529-40F5-BBF7-3AC7FCFD3407 g.chr11:51412296A>C ENST00000319760.6 - 1 152 c.100T>G c.(100-102)Ttg>Gtg p.L34V NM_001005272.3 NP_001005272.3 Q8NH83 OR4A5_HUMAN olfactory receptor, family 4, subfamily A, member 5 34 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity NS(1)|breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(8)|lung(28)|ovary(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1) 49 all_lung(304;0.236) ACTGTCACCAAGTATGTGAGT 0.423000 4 54 0 0 1 0 0 IGHV4OR15-8 28317 broad.mit.edu 37 15 22473333 22473333 + RNA SNP A A G TCGA-EB-A4OZ-01A-12D-A25O-08 TCGA-EB-A4OZ-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx C2C804DA-A41F-451D-93A4-540354DD399E 8D798914-A529-40F5-BBF7-3AC7FCFD3407 g.chr15:22473333A>G ENST00000557788.2 - 0 20 CCAGGAGGAGAAAGAACCACA 0.512000 4 53 0 0 1 0 0 BRAF 673 broad.mit.edu 37 7 140453136 140453136 + Missense_Mutation SNP A A T rs121913377 TCGA-EB-A4OZ-01A-12D-A25O-08 TCGA-EB-A4OZ-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx C2C804DA-A41F-451D-93A4-540354DD399E 8D798914-A529-40F5-BBF7-3AC7FCFD3407 g.chr7:140453136A>T ENST00000288602.6 - 15 1859 c.1799T>A c.(1798-1800)gTg>gAg p.V600E NM_004333.4 NP_004324.2 P15056 BRAF_HUMAN v-raf murine sarcoma viral oncogene homolog B 600 Protein kinase. V -> D (in a melanoma cell line; requires 2 nucleotide substitutions).|V -> E (in sarcoma, colorectal adenocarcinoma, metastatic melanoma, ovarian serous carcinoma, pilocytic astrocytoma; somatic mutation; most common mutation; constitutive and elevated kinase activity; efficiently induces cell transformation; suppression of mutation in melanoma causes growth arrest and promotes apoptosis). activation of MAPKK activity|anti-apoptosis|nerve growth factor receptor signaling pathway|organ morphogenesis|positive regulation of peptidyl-serine phosphorylation|small GTPase mediated signal transduction|synaptic transmission cytosol|nucleus|plasma membrane ATP binding|metal ion binding p.V600E(15453)|p.V600K(252)|p.V600R(44)|p.V600D(16)|p.V600A(12)|p.V600_K601>E(12)|p.V600G(11)|p.T599_R603>I(2)|p.V600Q(2)|p.V600_S605>EK(1)|p.V600_S605>DV(1)|p.V600_S605>D(1)|p.T599_V600insDFGLAT(1) SLC45A3/BRAF(2)|AGTRAP/BRAF(2)|FAM131B_ENST00000443739/BRAF(7)|AKAP9_ENST00000356239/BRAF(10)|KIAA1549/BRAF(703)|FCHSD1/BRAF(2) NS(588)|adrenal_gland(3)|autonomic_ganglia(3)|biliary_tract(29)|bone(7)|breast(21)|central_nervous_system(99)|cervix(6)|endometrium(33)|eye(72)|gastrointestinal_tract_(site_indeterminate)(2)|genital_tract(4)|haematopoietic_and_lymphoid_tissue(436)|kidney(3)|large_intestine(6953)|liver(17)|lung(192)|oesophagus(4)|ovary(275)|pancreas(15)|pituitary(1)|prostate(25)|salivary_gland(1)|skin(6285)|small_intestine(12)|soft_tissue(40)|stomach(11)|testis(7)|thyroid(12220)|upper_aerodigestive_tract(13)|urinary_tract(3) 27380 Melanoma(164;0.00956) Sorafenib(DB00398) TCGAGATTTCACTGTAGCTAG 0.368000 V600D(K029AX_SKIN)|V600D(WM115_SKIN)|V600D(WM2664_SKIN)|V600E(8505C_THYROID)|V600E(A101D_SKIN)|V600E(A2058_SKIN)|V600E(A375_SKIN)|V600E(A673_BONE)|V600E(AM38_CENTRAL_NERVOUS_SYSTEM)|V600E(BCPAP_THYROID)|V600E(BHT101_THYROID)|V600E(BT474_BREAST)|V600E(C32_SKIN)|V600E(CL34_LARGE_INTESTINE)|V600E(COLO205_LARGE_INTESTINE)|V600E(COLO679_SKIN)|V600E(COLO741_SKIN)|V600E(COLO783_SKIN)|V600E(COLO800_SKIN)|V600E(COLO818_SKIN)|V600E(COLO829_SKIN)|V600E(COLO849_SKIN)|V600E(DBTRG05MG_CENTRAL_NERVOUS_SYSTEM)|V600E(DU4475_BREAST)|V600E(ES2_OVARY)|V600E(G361_SKIN)|V600E(GCT_SOFT_TISSUE)|V600E(HS294T_SKIN)|V600E(HS695T_SKIN)|V600E(HS939T_SKIN)|V600E(IGR1_SKIN)|V600E(IGR37_SKIN)|V600E(IGR39_SKIN)|V600E(K029AX_SKIN)|V600E(KG1C_CENTRAL_NERVOUS_SYSTEM)|V600E(LOXIMVI_SKIN)|V600E(MALME3M_SKIN)|V600E(MELHO_SKIN)|V600E(OUMS23_LARGE_INTESTINE)|V600E(RKO_LARGE_INTESTINE)|V600E(RPMI7951_SKIN)|V600E(RVH421_SKIN)|V600E(SH4_SKIN)|V600E(SIGM5_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|V600E(SKHEP1_LIVER)|V600E(SKMEL24_SKIN)|V600E(SKMEL28_SKIN)|V600E(SKMEL5_SKIN)|V600E(SW1417_LARGE_INTESTINE)|V600E(UACC257_SKIN)|V600E(UACC62_SKIN)|V600E(WM793_SKIN)|V600E(WM88_SKIN)|V600E(WM983B_SKIN) 61 """Mis, T, O""" """AKAP9, KIAA1549""" """melanoma, colorectal, papillary thyroid, borderline ov, Non small-cell lung cancer (NSCLC), cholangiocarcinoma, pilocytic astrocytoma""" Cardio-facio-cutaneous syndrome Cardiofaciocutaneous syndrome 14 59 0 0 1 0 0 BCRP7 100133163 broad.mit.edu 37 22 18844888 18844888 + RNA SNP A A G TCGA-EB-A4OZ-01A-12D-A25O-08 TCGA-EB-A4OZ-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx C2C804DA-A41F-451D-93A4-540354DD399E 8D798914-A529-40F5-BBF7-3AC7FCFD3407 g.chr22:18844888A>G ENST00000412938.1 + 0 3138 GCTCACGGAAATACAGCTTCA 0.587000 4 56 0 0 1 0 0 PLA2G4D 283748 broad.mit.edu 37 15 42371952 42371952 + Missense_Mutation SNP A A G TCGA-EB-A4OZ-01A-12D-A25O-08 TCGA-EB-A4OZ-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx C2C804DA-A41F-451D-93A4-540354DD399E 8D798914-A529-40F5-BBF7-3AC7FCFD3407 g.chr15:42371952A>G ENST00000290472.3 - 13 1194 c.1100T>C c.(1099-1101)aTg>aCg p.M367T NM_178034.3 NP_828848.3 Q86XP0 PA24D_HUMAN phospholipase A2, group IVD (cytosolic) 367 PLA2c. phospholipid catabolic process cytoplasmic vesicle membrane|cytosol metal ion binding|phospholipase A2 activity NS(1)|breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(4)|lung(7)|ovary(1)|skin(2)|stomach(1) 27 all_cancers(109;6.37e-17)|all_epithelial(112;3.78e-15)|Lung NSC(122;5.01e-09)|all_lung(180;2.24e-08)|Melanoma(134;0.019)|Ovarian(310;0.143)|Colorectal(260;0.245) OV - Ovarian serous cystadenocarcinoma(18;4.9e-17)|GBM - Glioblastoma multiforme(94;1.02e-06) CAGGTGGGCCATTGTCCTGGA 0.627000 5 46 0 0 1 0 0 AP1G2 8906 broad.mit.edu 37 14 24035813 24035813 + Missense_Mutation SNP T T C TCGA-EB-A4OZ-01A-12D-A25O-08 TCGA-EB-A4OZ-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx C2C804DA-A41F-451D-93A4-540354DD399E 8D798914-A529-40F5-BBF7-3AC7FCFD3407 g.chr14:24035813T>C ENST00000308724.5 - 2 1042 c.287A>G c.(286-288)gAg>gGg p.E96G RP11-66N24.3_ENST00000555968.1_RNA|AP1G2_ENST00000397120.3_Missense_Mutation_p.E96G|AP1G2_ENST00000556277.1_5'UTR NM_003917.2 NP_003908.1 O75843 AP1G2_HUMAN adaptor-related protein complex 1, gamma 2 subunit 96 interspecies interaction between organisms|intracellular protein transport|vesicle-mediated transport AP-1 adaptor complex|endosome membrane protein binding|protein transporter activity breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(10)|lung(4)|ovary(1)|pancreas(1)|stomach(1) 28 all_cancers(95;0.000251) GBM - Glioblastoma multiforme(265;0.00672) ATCGTGCCTCTCATCCAATAG 0.537000 20 182 0 0 1 0 0 DYSF 8291 broad.mit.edu 37 2 71896855 71896855 + Missense_Mutation SNP A A T TCGA-EB-A4OZ-01A-12D-A25O-08 TCGA-EB-A4OZ-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx C2C804DA-A41F-451D-93A4-540354DD399E 8D798914-A529-40F5-BBF7-3AC7FCFD3407 g.chr2:71896855A>T ENST00000258104.3 + 50 5923 c.5646A>T c.(5644-5646)caA>caT p.Q1882H DYSF_ENST00000409366.1_Missense_Mutation_p.Q1904H|DYSF_ENST00000409582.3_Missense_Mutation_p.Q1920H|DYSF_ENST00000479049.2_3'UTR|DYSF_ENST00000413539.2_Missense_Mutation_p.Q1913H|DYSF_ENST00000394120.2_Missense_Mutation_p.Q1883H|DYSF_ENST00000429174.2_Missense_Mutation_p.Q1903H|DYSF_ENST00000410020.3_Missense_Mutation_p.Q1921H|DYSF_ENST00000410041.1_Missense_Mutation_p.Q1900H|DYSF_ENST00000409744.1_Missense_Mutation_p.Q1890H|DYSF_ENST00000409762.1_Missense_Mutation_p.Q1899H|DYSF_ENST00000409651.1_Missense_Mutation_p.Q1914H NM_001130976.1|NM_003494.3 NP_001124448.1|NP_003485.1 O75923 DYSF_HUMAN dysferlin 1882 cytoplasmic vesicle membrane|integral to membrane|sarcolemma calcium-dependent phospholipid binding autonomic_ganglia(2)|breast(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(22)|lung(57)|ovary(3)|pancreas(1)|prostate(2)|skin(6)|upper_aerodigestive_tract(3)|urinary_tract(2) 111 CAGCTGAGCAAGTCTGTACCA 0.532000 7 90 0 0 1 0 0 RBM10 8241 broad.mit.edu 37 X 47030582 47030582 + Missense_Mutation SNP G G T TCGA-EB-A4OZ-01A-12D-A25O-08 TCGA-EB-A4OZ-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx C2C804DA-A41F-451D-93A4-540354DD399E 8D798914-A529-40F5-BBF7-3AC7FCFD3407 g.chrX:47030582G>T ENST00000377604.3 + 4 1099 c.357G>T c.(355-357)gaG>gaT p.E119D RBM10_ENST00000345781.6_Intron|RBM10_ENST00000468791.1_3'UTR|RBM10_ENST00000329236.7_Intron NM_001204467.1|NM_001204468.1|NM_005676.4 NP_001191396.1|NP_001191397.1|NP_005667.2 P98175 RBM10_HUMAN RNA binding motif protein 10 119 Poly-Glu. mRNA processing|RNA splicing chromatin remodeling complex nucleotide binding|RNA binding|zinc ion binding breast(3)|central_nervous_system(1)|cervix(1)|endometrium(8)|large_intestine(10)|liver(1)|lung(14)|ovary(2)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(3) 48 aggaggaggaggatgaggagg 0.662000 3 28 1 1 1 1 0 LCE1F 353137 broad.mit.edu 37 1 152748940 152748940 + Silent SNP A A G rs137888629 TCGA-EB-A4OZ-01A-12D-A25O-08 TCGA-EB-A4OZ-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx C2C804DA-A41F-451D-93A4-540354DD399E 8D798914-A529-40F5-BBF7-3AC7FCFD3407 g.chr1:152748940A>G ENST00000334371.2 + 1 93 c.93A>G c.(91-93)ccA>ccG p.P31P NM_178354.2 NP_848131.1 Q5T754 LCE1F_HUMAN late cornified envelope 1F 31 Pro-rich. keratinization kidney(1)|large_intestine(2)|lung(7)|prostate(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 15 Hepatocellular(266;0.0877)|all_hematologic(923;0.127)|Melanoma(130;0.242) LUSC - Lung squamous cell carcinoma(543;0.206) agtgccccccaaagtgtcccc 0.662000 9 100 0 0 1 0 0 C3orf27 23434 broad.mit.edu 37 3 128292319 128292320 + Frame_Shift_Del DEL TC TC - TCGA-EB-A4OZ-01A-12D-A25O-08 TCGA-EB-A4OZ-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx C2C804DA-A41F-451D-93A4-540354DD399E 8D798914-A529-40F5-BBF7-3AC7FCFD3407 g.chr3:128292319_128292320delTC ENST00000356020.2 - 3 1219_1220 c.253_254delGA c.(253-255)tfs p.D86fs NM_007354.2 NP_031380.1 O15544 GR6_HUMAN chromosome 3 open reading frame 27 86 large_intestine(2)|lung(5)|prostate(1) 8 GBM - Glioblastoma multiforme(114;0.176) GAGCTCGTCATCTCTCTCTCTC 0.599 9 80 --- --- --- --- PCDHGB4 8641 broad.mit.edu 37 5 140767492 140767497 + In_Frame_Del DEL TGCCAG TGCCAG - TCGA-EB-A4OZ-01A-12D-A25O-08 TCGA-EB-A4OZ-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx C2C804DA-A41F-451D-93A4-540354DD399E 8D798914-A529-40F5-BBF7-3AC7FCFD3407 g.chr5:140767492_140767497delTGCCAG ENST00000519479.1 + 1 41_46 c.41_46delTGCCAG c.(40-48)ctg>c p.LPV14del PCDHGA3_ENST00000253812.6_Intron|PCDHGB3_ENST00000576222.1_Intron|PCDHGA7_ENST00000518325.1_Intron|PCDHGA6_ENST00000517434.1_Intron|PCDHGB2_ENST00000522605.1_Intron|PCDHGA2_ENST00000394576.2_Intron|PCDHGB1_ENST00000523390.1_Intron|PCDHGA1_ENST00000517417.1_Intron|PCDHGA5_ENST00000518069.1_Intron|PCDHGA4_ENST00000571252.1_Intron NM_003736.2|NM_018925.2|NM_032098.1 NP_003727.1|NP_061748.1|NP_115269.1 p.P15_V16delPV(1) endometrium(9)|kidney(3)|large_intestine(4)|lung(14)|ovary(1)|prostate(1)|stomach(3)|urinary_tract(2) 37 KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191) GCTGAGAGGCTGCCAGTGCTCTTTCT 0.617 OREG0016859 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 3 3 --- --- --- --- CYP21A1P 1590 broad.mit.edu 37 6 31973890 31973891 + RNA INS - - T TCGA-EB-A4OZ-01A-12D-A25O-08 TCGA-EB-A4OZ-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx C2C804DA-A41F-451D-93A4-540354DD399E 8D798914-A529-40F5-BBF7-3AC7FCFD3407 g.chr6:31973890_31973891insT ENST00000342991.6 + 0 478_479 NR_040090.1 Q5ST44 Q5ST44_HUMAN electron carrier activity|heme binding|monooxygenase activity|oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen tcttaaacaaattttttttttg 0.495 3 4 --- --- --- --- RRP36 88745 broad.mit.edu 37 6 42989414 42989419 + In_Frame_Del DEL GCCGGG GCCGGG - rs60664426 TCGA-EB-A4OZ-01A-12D-A25O-08 TCGA-EB-A4OZ-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx C2C804DA-A41F-451D-93A4-540354DD399E 8D798914-A529-40F5-BBF7-3AC7FCFD3407 g.chr6:42989414_42989419delGCCGGG ENST00000244496.5 + 1 32_37 c.22_27delGCCGGG c.(22-27)del p.AG14del NM_033112.2 NP_149103.1 Q96EU6 RRP36_HUMAN ribosomal RNA processing 36 homolog (S. cerevisiae) 14 ribosomal small subunit biogenesis|rRNA processing nucleolus p.A8_G9delAG(2) NS(1)|breast(1)|central_nervous_system(1)|large_intestine(5)|lung(1)|ovary(1)|prostate(1) 11 TAACTAccgcgccggggccggggccg 0.777 5 5 --- --- --- --- EEF1D 1936 broad.mit.edu 37 8 144662231 144662234 + Frame_Shift_Del DEL TTGT TTGT - TCGA-EB-A4OZ-01A-12D-A25O-08 TCGA-EB-A4OZ-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx C2C804DA-A41F-451D-93A4-540354DD399E 8D798914-A529-40F5-BBF7-3AC7FCFD3407 g.chr8:144662231_144662234delTTGT ENST00000532741.1 - 7 2231_2234 c.2003_2006delACAA c.(2002-2007)ggfs p.DK668fs EEF1D_ENST00000395119.3_Frame_Shift_Del_p.DK252fs|EEF1D_ENST00000442189.2_Frame_Shift_Del_p.DK618fs|EEF1D_ENST00000528610.1_Frame_Shift_Del_p.DK228fs|EEF1D_ENST00000526838.1_Frame_Shift_Del_p.DK233fs|EEF1D_ENST00000317198.6_Frame_Shift_Del_p.DK252fs|EEF1D_ENST00000532400.1_Frame_Shift_Del_p.TR68fs|EEF1D_ENST00000423316.2_Frame_Shift_Del_p.DK618fs|EEF1D_ENST00000531621.1_Frame_Shift_Del_p.DK209fs|EEF1D_ENST00000419152.2_Frame_Shift_Del_p.DK252fs|EEF1D_ENST00000524624.1_Frame_Shift_Del_p.DK228fs|EEF1D_ENST00000529272.1_Frame_Shift_Del_p.DK252fs|RP11-661A12.7_ENST00000529247.1_RNA P29692 EF1D_HUMAN eukaryotic translation elongation factor 1 delta (guanine nucleotide exchange protein) 252 positive regulation of I-kappaB kinase/NF-kappaB cascade cytosol|eukaryotic translation elongation factor 1 complex protein binding|signal transducer activity|translation elongation factor activity breast(2)|cervix(1)|endometrium(1)|kidney(4)|lung(2)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1) 14 all_cancers(97;3.74e-11)|all_epithelial(106;2.62e-09)|Lung NSC(106;0.00013)|all_lung(105;0.000374)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155) Colorectal(110;0.134)|BRCA - Breast invasive adenocarcinoma(115;0.239) TGTCCCCACCTTGTCGTCCTCCAC 0.632 13 94 --- --- --- --- CCNT1 904 broad.mit.edu 37 12 49087434 49087436 + In_Frame_Del DEL ATG ATG - TCGA-EB-A4OZ-01A-12D-A25O-08 TCGA-EB-A4OZ-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx C2C804DA-A41F-451D-93A4-540354DD399E 8D798914-A529-40F5-BBF7-3AC7FCFD3407 g.chr12:49087434_49087436delATG ENST00000261900.3 - 9 1783_1785 c.1561_1563delCAT c.(1561-1563)del p.H521del NM_001240.3 NP_001231.2 O60563 CCNT1_HUMAN cyclin T1 521 His-rich. cell cycle|cell division|interspecies interaction between organisms|positive regulation of viral transcription|protein phosphorylation|regulation of cyclin-dependent protein kinase activity|regulation of transcription, DNA-dependent|transcription elongation from RNA polymerase II promoter|viral reproduction nucleoplasm DNA binding|protein kinase binding breast(3)|endometrium(1)|kidney(1)|large_intestine(4)|lung(13)|ovary(3)|skin(2) 27 AGTGGTGATTATGATGATGATGA 0.443 8 464 --- --- --- --- CDC27 996 broad.mit.edu 37 17 45247389 45247389 + Frame_Shift_Del DEL T T - TCGA-EB-A4OZ-01A-12D-A25O-08 TCGA-EB-A4OZ-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx C2C804DA-A41F-451D-93A4-540354DD399E 8D798914-A529-40F5-BBF7-3AC7FCFD3407 g.chr17:45247389delT ENST00000066544.3 - 4 364 c.271delA c.(271-273)tcfs p.I91fs CDC27_ENST00000527547.1_Frame_Shift_Del_p.I91fs|CDC27_ENST00000528748.1_5'UTR|CDC27_ENST00000446365.2_Frame_Shift_Del_p.I30fs|RP5-867C24.5_ENST00000572193.1_RNA|CDC27_ENST00000531206.1_Frame_Shift_Del_p.I91fs NM_001114091.1|NM_001256.3 NP_001107563.1|NP_001247.3 P30260 CDC27_HUMAN cell division cycle 27 91 anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|cell proliferation|mitotic cell cycle spindle assembly checkpoint|mitotic metaphase/anaphase transition|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|protein K11-linked ubiquitination anaphase-promoting complex|centrosome|cytosol|nucleoplasm|spindle microtubule protein phosphatase binding p.I91fs*54(1) NS(1)|breast(5)|central_nervous_system(3)|cervix(1)|endometrium(2)|kidney(17)|large_intestine(18)|lung(11)|ovary(5)|pancreas(1)|prostate(19)|skin(5)|upper_aerodigestive_tract(2) 90 CCAGATAAGATTTGTTCCCCT 0.323 10 157 --- --- --- --- GAGE10 643832 broad.mit.edu 37 X 49173752 49173752 + Frame_Shift_Del DEL A A - TCGA-EB-A4OZ-01A-12D-A25O-08 TCGA-EB-A4OZ-10A-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx C2C804DA-A41F-451D-93A4-540354DD399E 8D798914-A529-40F5-BBF7-3AC7FCFD3407 g.chrX:49173752delA ENST00000407599.3 + 4 406 c.313delA c.(313-315)aafs p.K105fs NM_001098413.2 NP_001091883.2 A6NGK3 GAG10_HUMAN G antigen 10 105 breast(1)|central_nervous_system(1)|large_intestine(1)|lung(1) 4 Ovarian(276;0.236) AGAGGAGGTGAAAAGGCCTGA 0.468 7 276 --- --- --- ---