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 SLITRK5 26050 broad.mit.edu 37 13 88329124 88329124 + Missense_Mutation SNP G G A rs139493330 TCGA-XJ-A83F-01A-11D-A34U-08 TCGA-XJ-A83F-10A-01D-A34X-08 Untested Somatic Phase_I WXS none Illumina GAIIx aaa16e66-2563-4c7c-8209-3e501185226e d7ad26f0-ee2d-4a35-9f25-c860af727cbd g.chr13:88329124G>A ENST00000325089.6 + 2 1700 c.1481G>A c.(1480-1482)cGc>cAc p.R494H SLITRK5_ENST00000400028.3_Missense_Mutation_p.R253H NM_015567.1 NP_056382.1 O94991 SLIK5_HUMAN SLIT and NTRK-like family, member 5 494 integral to membrane breast(1)|central_nervous_system(2)|endometrium(6)|kidney(6)|large_intestine(14)|lung(40)|ovary(2)|pancreas(2)|prostate(3)|skin(1)|upper_aerodigestive_tract(4) 81 all_neural(89;0.101)|Medulloblastoma(90;0.163) AATCTCATCCGCGAGATTCAG 0.542000 8 96 0 0 1 0 0 LRRK2 120892 broad.mit.edu 37 12 40716261 40716261 + Missense_Mutation SNP G G A TCGA-XJ-A83F-01A-11D-A34U-08 TCGA-XJ-A83F-10A-01D-A34X-08 Untested Somatic Phase_I WXS none Illumina GAIIx aaa16e66-2563-4c7c-8209-3e501185226e d7ad26f0-ee2d-4a35-9f25-c860af727cbd g.chr12:40716261G>A ENST00000298910.7 + 37 5516 c.5458G>A c.(5458-5460)Gaa>Aaa p.E1820K NM_198578.3 NP_940980.3 Q5S007 LRRK2_HUMAN leucine-rich repeat kinase 2 1820 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) TAATGATGGTGAAGAACATCA 0.348000 33 50 0 0 1 0 0 KLHL15 80311 broad.mit.edu 37 X 24006924 24006924 + Missense_Mutation SNP A A G TCGA-XJ-A83F-01A-11D-A34U-08 TCGA-XJ-A83F-10A-01D-A34X-08 Untested Somatic Phase_I WXS none Illumina GAIIx aaa16e66-2563-4c7c-8209-3e501185226e d7ad26f0-ee2d-4a35-9f25-c860af727cbd g.chrX:24006924A>G ENST00000328046.8 - 4 1184 c.929T>C c.(928-930)cTa>cCa p.L310P NM_030624.2 NP_085127.2 Q96M94 KLH15_HUMAN kelch-like family member 15 310 autonomic_ganglia(1)|breast(1)|endometrium(8)|kidney(2)|large_intestine(3)|lung(6)|ovary(1) 22 TGGGCCTTCTAGCTCCCACCA 0.463000 3 55 0 0 1 0 0 STOX2 56977 broad.mit.edu 37 4 184930356 184930356 + Missense_Mutation SNP C C T TCGA-XJ-A83F-01A-11D-A34U-08 TCGA-XJ-A83F-10A-01D-A34X-08 Untested Somatic Phase_I WXS none Illumina GAIIx aaa16e66-2563-4c7c-8209-3e501185226e d7ad26f0-ee2d-4a35-9f25-c860af727cbd g.chr4:184930356C>T ENST00000308497.4 + 3 1800 c.365C>T c.(364-366)aCg>aTg p.T122M STOX2_ENST00000438269.1_Missense_Mutation_p.T122M NM_020225.1 NP_064610.1 Q9P2F5 STOX2_HUMAN storkhead box 2 122 embryo development|maternal placenta development breast(1)|endometrium(7)|lung(6) 14 all_lung(41;1.89e-12)|Lung NSC(41;3.48e-12)|Colorectal(36;0.00435)|Renal(120;0.0246)|Hepatocellular(41;0.0268)|all_hematologic(60;0.027)|Prostate(90;0.0283) all cancers(43;2.85e-26)|Epithelial(43;2.27e-22)|OV - Ovarian serous cystadenocarcinoma(60;3.4e-10)|Colorectal(24;8.23e-06)|GBM - Glioblastoma multiforme(59;1.64e-05)|STAD - Stomach adenocarcinoma(60;3.6e-05)|COAD - Colon adenocarcinoma(29;4.37e-05)|LUSC - Lung squamous cell carcinoma(40;0.008)|READ - Rectum adenocarcinoma(43;0.227) ACGCTGAACACGCTGGTACGG 0.438000 4 28 0 0 1 0 0 CDC42BPG 55561 broad.mit.edu 37 11 64601218 64601218 + Missense_Mutation SNP G G A TCGA-XJ-A83F-01A-11D-A34U-08 TCGA-XJ-A83F-10A-01D-A34X-08 Untested Somatic Phase_I WXS none Illumina GAIIx aaa16e66-2563-4c7c-8209-3e501185226e d7ad26f0-ee2d-4a35-9f25-c860af727cbd g.chr11:64601218G>A ENST00000342711.5 - 22 2556 c.2557C>T c.(2557-2559)Cgc>Tgc p.R853C NM_017525.2 NP_059995.2 Q6DT37 MRCKG_HUMAN CDC42 binding protein kinase gamma (DMPK-like) 853 actin cytoskeleton reorganization|intracellular signal transduction cell leading edge|centrosome ATP binding|magnesium ion binding|protein binding|protein serine/threonine kinase activity|small GTPase regulator activity central_nervous_system(1)|lung(3) 4 ACCCCCATGCGCAGGCTGCGT 0.687000 16 39 0 0 1 0 0 MC4R 4160 broad.mit.edu 37 18 58039090 58039090 + Missense_Mutation SNP G G A rs13447332 TCGA-XJ-A83F-01A-11D-A34U-08 TCGA-XJ-A83F-10A-01D-A34X-08 Untested Somatic Phase_I WXS none Illumina GAIIx aaa16e66-2563-4c7c-8209-3e501185226e d7ad26f0-ee2d-4a35-9f25-c860af727cbd g.chr18:58039090G>A ENST00000299766.3 - 1 911 c.493C>T c.(493-495)Cgg>Tgg p.R165W NM_005912.2 NP_005903.2 P32245 MC4R_HUMAN melanocortin 4 receptor 165 R -> Q (in obesity; shows a partial cAMP response to alpha-MSH; dbSNP:rs13447332).|R -> W (in obesity; dbSNP:rs13447332). feeding behavior|G-protein signaling, coupled to cAMP nucleotide second messenger|positive regulation of bone resorption|positive regulation of cAMP biosynthetic process integral to membrane|plasma membrane melanocyte-stimulating hormone receptor activity|neuropeptide binding|ubiquitin protein ligase binding endometrium(2)|kidney(1)|large_intestine(5)|liver(2)|lung(5)|ovary(1)|upper_aerodigestive_tract(1) 17 Colorectal(73;0.0946) ATCCCAACCCGCTTAACTGTC 0.433000 42 15 0 0 1 0 0 AHR 196 broad.mit.edu 37 7 17379808 17379808 + Missense_Mutation SNP C C G TCGA-XJ-A83F-01A-11D-A34U-08 TCGA-XJ-A83F-10A-01D-A34X-08 Untested Somatic Phase_I WXS none Illumina GAIIx aaa16e66-2563-4c7c-8209-3e501185226e d7ad26f0-ee2d-4a35-9f25-c860af727cbd g.chr7:17379808C>G ENST00000242057.4 + 10 3002 c.2359C>G c.(2359-2361)Cag>Gag p.Q787E NM_001621.4 NP_001612.1 P35869 AHR_HUMAN aryl hydrocarbon receptor 787 apoptosis|blood vessel development|cell cycle|regulation of B cell proliferation|response to stress|transcription from RNA polymerase II promoter|xenobiotic metabolic process cytosolic aryl hydrocarbon receptor complex|transcription factor complex Hsp90 protein binding|ligand-dependent nuclear receptor activity|protein heterodimerization activity|sequence-specific DNA binding transcription factor activity|transcription factor binding|transcription regulatory region DNA binding NS(1)|central_nervous_system(1)|endometrium(3)|kidney(4)|large_intestine(8)|lung(11)|ovary(1)|pancreas(1)|urinary_tract(3) 33 Lung NSC(10;0.0392)|all_lung(11;0.0754) GGGTCAGATGCAGTACAATCC 0.448000 33 48 0 0 1 0 0 KCNK17 89822 broad.mit.edu 37 6 39278711 39278711 + Missense_Mutation SNP C C T TCGA-XJ-A83F-01A-11D-A34U-08 TCGA-XJ-A83F-10A-01D-A34X-08 Untested Somatic Phase_I WXS none Illumina GAIIx aaa16e66-2563-4c7c-8209-3e501185226e d7ad26f0-ee2d-4a35-9f25-c860af727cbd g.chr6:39278711C>T ENST00000453413.2 - 2 450 c.310G>A c.(310-312)Gtg>Atg p.V104M KCNK17_ENST00000373231.4_Missense_Mutation_p.V104M NM_001135111.1 NP_001128583.1 Q96T54 KCNKH_HUMAN potassium channel, subfamily K, member 17 104 integral to membrane potassium channel activity|voltage-gated ion channel activity endometrium(1)|kidney(1)|large_intestine(3)|lung(6)|ovary(1)|skin(2) 14 AAGGAGCCCACGAGCTCCCAG 0.607000 23 41 0 0 1 0 0 AURKAIP1 54998 broad.mit.edu 37 1 1309670 1309670 + Missense_Mutation SNP A A C TCGA-XJ-A83F-01A-11D-A34U-08 TCGA-XJ-A83F-10A-01D-A34X-08 Untested Somatic Phase_I WXS none Illumina GAIIx aaa16e66-2563-4c7c-8209-3e501185226e d7ad26f0-ee2d-4a35-9f25-c860af727cbd g.chr1:1309670A>C ENST00000338370.3 - 2 608 c.208T>G c.(208-210)Tcc>Gcc p.S70A AURKAIP1_ENST00000321751.5_Missense_Mutation_p.S70A|AURKAIP1_ENST00000378853.3_Missense_Mutation_p.S70A|AURKAIP1_ENST00000489799.1_5'UTR|AURKAIP1_ENST00000338338.5_Missense_Mutation_p.S70A Q9NWT8 AKIP_HUMAN aurora kinase A interacting protein 1 70 negative regulation of mitosis|positive regulation of proteolysis mitochondrion|nucleus protein binding kidney(1)|lung(2) 3 all_cancers(77;0.00164)|all_epithelial(69;0.000959)|all_lung(157;0.00963)|Lung NSC(156;0.0232)|Ovarian(185;0.0634) all_epithelial(116;9.48e-15)|all_lung(118;9.67e-07)|Lung NSC(185;5.59e-05)|Renal(390;0.00571)|Breast(487;0.0183)|Hepatocellular(190;0.0268)|Myeloproliferative disorder(586;0.028)|Ovarian(437;0.127)|Lung SC(97;0.217) Epithelial(90;5.82e-35)|OV - Ovarian serous cystadenocarcinoma(86;3.77e-21)|Colorectal(212;0.000155)|COAD - Colon adenocarcinoma(227;0.000193)|Kidney(185;0.00227)|BRCA - Breast invasive adenocarcinoma(365;0.00461)|STAD - Stomach adenocarcinoma(132;0.00644)|KIRC - Kidney renal clear cell carcinoma(229;0.0339)|Lung(427;0.145) GGGCTGACGGACATCTTCCTG 0.677000 6 29 0 0 1 0 0 MYH15 22989 broad.mit.edu 37 3 108175727 108175727 + Missense_Mutation SNP A A G TCGA-XJ-A83F-01A-11D-A34U-08 TCGA-XJ-A83F-10A-01D-A34X-08 Untested Somatic Phase_I WXS none Illumina GAIIx aaa16e66-2563-4c7c-8209-3e501185226e d7ad26f0-ee2d-4a35-9f25-c860af727cbd g.chr3:108175727A>G ENST00000273353.3 - 20 2140 c.2084T>C c.(2083-2085)aTa>aCa p.I695T MYH15_ENST00000495753.2_5'UTR NM_014981.1 NP_055796.1 Q9Y2K3 MYH15_HUMAN myosin, heavy chain 15 695 Myosin head-like. myofibril|myosin filament actin binding|ATP binding|calmodulin binding|motor activity NS(1)|breast(3)|central_nervous_system(2)|cervix(4)|endometrium(10)|kidney(4)|large_intestine(14)|lung(47)|ovary(5)|pancreas(2)|prostate(6)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2) 105 AGGGTCCAGTATACCTGGAAA 0.418000 55 73 0 0 1 0 0 ANKRD33 341405 broad.mit.edu 37 12 52284523 52284523 + Missense_Mutation SNP G G C TCGA-XJ-A83F-01A-11D-A34U-08 TCGA-XJ-A83F-10A-01D-A34X-08 Untested Somatic Phase_I WXS none Illumina GAIIx aaa16e66-2563-4c7c-8209-3e501185226e d7ad26f0-ee2d-4a35-9f25-c860af727cbd g.chr12:52284523G>C ENST00000301190.6 + 5 1020 c.793G>C c.(793-795)Gcc>Ccc p.A265P ANKRD33_ENST00000547119.1_3'UTR|ANKRD33_ENST00000538991.1_Missense_Mutation_p.A71P|ANKRD33_ENST00000340970.4_Missense_Mutation_p.A140P NM_001130015.1|NM_182608.3 NP_001123487.1|NP_872414.3 Q7Z3H0 ANR33_HUMAN ankyrin repeat domain 33 140 endometrium(2)|kidney(1)|large_intestine(5)|lung(11)|ovary(1)|skin(1)|urinary_tract(1) 22 BRCA - Breast invasive adenocarcinoma(357;0.0969) CGAGTGGCCGGCCTTGTCCGG 0.667000 5 11 0 0 1 0 0 FAT3 120114 broad.mit.edu 37 11 92534829 92534829 + Missense_Mutation SNP G G A TCGA-XJ-A83F-01A-11D-A34U-08 TCGA-XJ-A83F-10A-01D-A34X-08 Untested Somatic Phase_I WXS none Illumina GAIIx aaa16e66-2563-4c7c-8209-3e501185226e d7ad26f0-ee2d-4a35-9f25-c860af727cbd g.chr11:92534829G>A ENST00000298047.6 + 9 8667 c.8650G>A c.(8650-8652)Gag>Aag p.E2884K FAT3_ENST00000525166.1_Missense_Mutation_p.E2734K|FAT3_ENST00000409404.2_Missense_Mutation_p.E2884K Q8TDW7 FAT3_HUMAN FAT atypical cadherin 3 2884 Cadherin 26. homophilic cell adhesion|multicellular organismal development integral to membrane|plasma membrane calcium ion binding p.E2884K(1) NS(1)|breast(2)|endometrium(10)|kidney(4)|large_intestine(11)|liver(2)|lung(37)|ovary(5)|pancreas(1)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(5) 85 Acute lymphoblastic leukemia(157;3.01e-05)|all_hematologic(158;0.00858) CCTAGATCACGAGACAGACCC 0.512000 TCGA Ovarian(4;0.039) 6 40 0 0 1 0 0 PPFIBP1 8496 broad.mit.edu 37 12 27842018 27842018 + Missense_Mutation SNP T T A TCGA-XJ-A83F-01A-11D-A34U-08 TCGA-XJ-A83F-10A-01D-A34X-08 Untested Somatic Phase_I WXS none Illumina GAIIx aaa16e66-2563-4c7c-8209-3e501185226e d7ad26f0-ee2d-4a35-9f25-c860af727cbd g.chr12:27842018T>A ENST00000318304.8 + 26 2868 c.2585T>A c.(2584-2586)cTg>cAg p.L862Q PPFIBP1_ENST00000537927.1_Missense_Mutation_p.L709Q|PPFIBP1_ENST00000228425.6_Missense_Mutation_p.L856Q|PPFIBP1_ENST00000542629.1_Missense_Mutation_p.L831Q NM_001198916.1|NM_177444.2 NP_001185845.1|NP_803193.2 Q86W92 LIPB1_HUMAN PTPRF interacting protein, binding protein 1 (liprin beta 1) 862 SAM 3. cell adhesion plasma membrane protein binding PPFIBP1/ALK(3) central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(6)|lung(13)|prostate(2)|skin(1) 32 Lung SC(9;0.0873) AAGACTTTGCTGCGAAGACAT 0.433000 65 96 0 0 1 0 0 ALMS1 7840 broad.mit.edu 37 2 73678510 73678510 + Missense_Mutation SNP C C T TCGA-XJ-A83F-01A-11D-A34U-08 TCGA-XJ-A83F-10A-01D-A34X-08 Untested Somatic Phase_I WXS none Illumina GAIIx aaa16e66-2563-4c7c-8209-3e501185226e d7ad26f0-ee2d-4a35-9f25-c860af727cbd g.chr2:73678510C>T ENST00000264448.6 + 8 4964 c.4853C>T c.(4852-4854)gCa>gTa p.A1618V ALMS1_ENST00000377715.1_Missense_Mutation_p.A1618V|ALMS1_ENST00000409009.1_Missense_Mutation_p.A1576V NM_015120.4 NP_055935.4 Q8TCU4 ALMS1_HUMAN Alstrom syndrome 1 1618 34 X 47 AA approximate tandem repeat. 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 GGTTCCAGTGCACTTGGAGAG 0.473000 14 93 0 0 1 0 0 SYNE1 23345 broad.mit.edu 37 6 152751620 152751620 + Silent SNP T T C TCGA-XJ-A83F-01A-11D-A34U-08 TCGA-XJ-A83F-10A-01D-A34X-08 Untested Somatic Phase_I WXS none Illumina GAIIx aaa16e66-2563-4c7c-8209-3e501185226e d7ad26f0-ee2d-4a35-9f25-c860af727cbd g.chr6:152751620T>C ENST00000367255.5 - 35 5287 c.4686A>G c.(4684-4686)agA>agG p.R1562R SYNE1_ENST00000265368.4_Silent_p.R1562R|SYNE1_ENST00000448038.1_Silent_p.R1569R|SYNE1_ENST00000423061.1_Silent_p.R1569R|SYNE1_ENST00000341594.5_Silent_p.R1632R|SYNE1_ENST00000367253.4_Silent_p.R1562R NM_182961.3 NP_892006.3 Q8NF91 SYNE1_HUMAN spectrin repeat containing, nuclear envelope 1 1562 cell death|cytoskeletal anchoring at nuclear membrane|Golgi organization|muscle cell differentiation|nuclear matrix anchoring at nuclear membrane cytoskeleton|Golgi apparatus|integral to membrane|nuclear outer membrane|postsynaptic membrane|sarcomere|SUN-KASH complex actin binding|lamin binding NS(3)|biliary_tract(1)|breast(17)|central_nervous_system(21)|cervix(3)|endometrium(27)|haematopoietic_and_lymphoid_tissue(4)|kidney(16)|large_intestine(138)|liver(1)|lung(190)|ovary(11)|pancreas(5)|prostate(12)|skin(20)|stomach(3)|upper_aerodigestive_tract(33)|urinary_tract(19) 524 Ovarian(120;0.0955) BRCA - Breast invasive adenocarcinoma(37;0.243) OV - Ovarian serous cystadenocarcinoma(155;2.24e-10) TTCTTACCTTTCTAAGGTTCT 0.368000 HNSCC(10;0.0054) 39 52 0 0 1 0 0 GTPBP3 84705 broad.mit.edu 37 19 17452312 17452312 + Missense_Mutation SNP C C G TCGA-XJ-A83F-01A-11D-A34U-08 TCGA-XJ-A83F-10A-01D-A34X-08 Untested Somatic Phase_I WXS none Illumina GAIIx aaa16e66-2563-4c7c-8209-3e501185226e d7ad26f0-ee2d-4a35-9f25-c860af727cbd g.chr19:17452312C>G ENST00000324894.8 + 9 1347 c.1279C>G c.(1279-1281)Ccg>Gcg p.P427A GTPBP3_ENST00000600625.1_Missense_Mutation_p.P406A|GTPBP3_ENST00000598038.1_3'UTR|GTPBP3_ENST00000361619.5_Missense_Mutation_p.P449A|GTPBP3_ENST00000358792.7_Missense_Mutation_p.P459A NM_032620.3|NM_133644.3 NP_116009.2|NP_598399.2 Q969Y2 GTPB3_HUMAN GTP binding protein 3 (mitochondrial) 427 tRNA modification mitochondrion GTP binding|GTPase activity breast(1)|endometrium(1)|kidney(1)|large_intestine(5)|lung(7)|skin(2)|upper_aerodigestive_tract(1) 18 CACAGATCCCCCGCTGCTGAC 0.597000 23 66 0 0 1 0 0 AHNAK2 113146 broad.mit.edu 37 14 105418145 105418145 + Missense_Mutation SNP G G A TCGA-XJ-A83F-01A-11D-A34U-08 TCGA-XJ-A83F-10A-01D-A34X-08 Untested Somatic Phase_I WXS none Illumina GAIIx aaa16e66-2563-4c7c-8209-3e501185226e d7ad26f0-ee2d-4a35-9f25-c860af727cbd g.chr14:105418145G>A ENST00000333244.5 - 7 3762 c.3643C>T c.(3643-3645)Ccc>Tcc p.P1215S AHNAK2_ENST00000557457.1_Intron NM_138420.2 NP_612429.2 Q8IVF2 AHNK2_HUMAN AHNAK nucleoprotein 2 1215 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) GCGGAAGGGGGCTGAATGCTG 0.647000 3 1 0 0 1 0 0 ADAMTS5 11096 broad.mit.edu 37 21 28306854 28306854 + Silent SNP C C T TCGA-XJ-A83F-01A-11D-A34U-08 TCGA-XJ-A83F-10A-01D-A34X-08 Untested Somatic Phase_I WXS none Illumina GAIIx aaa16e66-2563-4c7c-8209-3e501185226e d7ad26f0-ee2d-4a35-9f25-c860af727cbd g.chr21:28306854C>T ENST00000284987.5 - 4 1741 c.1620G>A c.(1618-1620)acG>acA p.T540T AP001601.2_ENST00000426771.1_RNA NM_007038.3 NP_008969.2 Q9UNA0 ATS5_HUMAN ADAM metallopeptidase with thrombospondin type 1 motif, 5 540 Disintegrin. proteolysis proteinaceous extracellular matrix integrin binding|metalloendopeptidase activity|zinc ion binding breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(17)|lung(34)|ovary(3)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(3) 72 TTCCACAAGGCGTCCCTTCCA 0.522000 17 59 0 0 1 0 0 TAAR6 319100 broad.mit.edu 37 6 132891554 132891554 + Missense_Mutation SNP C C T TCGA-XJ-A83F-01A-11D-A34U-08 TCGA-XJ-A83F-10A-01D-A34X-08 Untested Somatic Phase_I WXS none Illumina GAIIx aaa16e66-2563-4c7c-8209-3e501185226e d7ad26f0-ee2d-4a35-9f25-c860af727cbd g.chr6:132891554C>T ENST00000275198.1 + 1 94 c.94C>T c.(94-96)Cgg>Tgg p.R32W NM_175067.1 NP_778237.1 Q96RI8 TAAR6_HUMAN trace amine associated receptor 6 32 plasma membrane G-protein coupled receptor activity cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|liver(2)|lung(19)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1) 41 Breast(56;0.112) OV - Ovarian serous cystadenocarcinoma(155;0.006)|GBM - Glioblastoma multiforme(226;0.00792) GCCGGGATCCCGGGTGATTCT 0.532000 22 105 0 0 1 0 0 LARP1 23367 broad.mit.edu 37 5 154173201 154173201 + Missense_Mutation SNP A A C TCGA-XJ-A83F-01A-11D-A34U-08 TCGA-XJ-A83F-10A-01D-A34X-08 Untested Somatic Phase_I WXS none Illumina GAIIx aaa16e66-2563-4c7c-8209-3e501185226e d7ad26f0-ee2d-4a35-9f25-c860af727cbd g.chr5:154173201A>C ENST00000336314.4 + 5 579 c.555A>C c.(553-555)gaA>gaC p.E185D NM_015315.3 NP_056130.2 Q6PKG0 LARP1_HUMAN La ribonucleoprotein domain family, member 1 262 protein binding|RNA binding breast(1)|endometrium(3)|kidney(2)|large_intestine(10)|lung(9)|ovary(3)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1) 33 Renal(175;0.00488) Medulloblastoma(196;0.0354)|all_neural(177;0.147) KIRC - Kidney renal clear cell carcinoma(527;0.00112) TGAAGCCTGAAGTGCCCAGAG 0.527000 65 94 0 0 1 0 0 FLT4 2324 broad.mit.edu 37 5 180030327 180030327 + Silent SNP C C T TCGA-XJ-A83F-01A-11D-A34U-08 TCGA-XJ-A83F-10A-01D-A34X-08 Untested Somatic Phase_I WXS none Illumina GAIIx aaa16e66-2563-4c7c-8209-3e501185226e d7ad26f0-ee2d-4a35-9f25-c860af727cbd g.chr5:180030327C>T ENST00000261937.6 - 30 4035 c.3957G>A c.(3955-3957)cgG>cgA p.R1319R NM_182925.4 NP_891555.2 P35916 VGFR3_HUMAN fms-related tyrosine kinase 4 0 positive regulation of cell proliferation integral to plasma membrane ATP binding|protein phosphatase binding|vascular endothelial growth factor receptor activity NS(1)|breast(3)|central_nervous_system(2)|endometrium(1)|kidney(6)|large_intestine(5)|liver(2)|lung(37)|ovary(6)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 71 all_cancers(89;2.21e-05)|all_epithelial(37;5.29e-06)|Renal(175;0.000159)|Lung NSC(126;0.00199)|all_lung(126;0.00351)|Breast(19;0.114) all_cancers(40;0.00245)|Medulloblastoma(196;0.0133)|all_neural(177;0.0199)|all_hematologic(541;0.163)|Ovarian(839;0.238) Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178) all cancers(165;0.134) Sorafenib(DB00398)|Sunitinib(DB01268) CAGGCCGCCGCCGCCTCCCTT 0.627000 10 7 0 0 1 0 0 ABCB9 23457 broad.mit.edu 37 12 123419855 123419855 + Missense_Mutation SNP C C T rs147328787 TCGA-XJ-A83F-01A-11D-A34U-08 TCGA-XJ-A83F-10A-01D-A34X-08 Untested Somatic Phase_I WXS none Illumina GAIIx aaa16e66-2563-4c7c-8209-3e501185226e d7ad26f0-ee2d-4a35-9f25-c860af727cbd g.chr12:123419855C>T ENST00000542678.1 - 10 4705 c.1867G>A c.(1867-1869)Ggc>Agc p.G623S ABCB9_ENST00000344275.7_Missense_Mutation_p.G623S|ABCB9_ENST00000392439.3_Missense_Mutation_p.G623S|ABCB9_ENST00000280560.8_Missense_Mutation_p.G623S|ABCB9_ENST00000346530.5_Missense_Mutation_p.G580S|ABCB9_ENST00000442028.2_Missense_Mutation_p.G623S|ABCB9_ENST00000442833.2_Missense_Mutation_p.G623S|ABCB9_ENST00000540285.1_Missense_Mutation_p.G560S Q9NP78 ABCB9_HUMAN ATP-binding cassette, sub-family B (MDR/TAP), member 9 623 ABC transporter. positive regulation of T cell mediated cytotoxicity|protein transport lysosomal membrane|plasma membrane|TAP complex ATP binding|MHC class I protein binding|oligopeptide-transporting ATPase activity|peptide antigen binding|protein homodimerization activity|TAP1 binding|TAP2 binding|tapasin binding central_nervous_system(1)|endometrium(2)|large_intestine(2)|lung(9)|ovary(2)|prostate(1)|skin(1) 18 all_neural(191;0.0837)|Medulloblastoma(191;0.163) OV - Ovarian serous cystadenocarcinoma(86;6.84e-05)|Epithelial(86;0.000152)|BRCA - Breast invasive adenocarcinoma(302;0.111) ATGATGAAGCCGTGGGCATTG 0.627000 14 22 0 0 1 0 0 MAGI1 9223 broad.mit.edu 37 3 65425585 65425585 + Silent SNP C C T TCGA-XJ-A83F-01A-11D-A34U-08 TCGA-XJ-A83F-10A-01D-A34X-08 Untested Somatic Phase_I WXS none Illumina GAIIx aaa16e66-2563-4c7c-8209-3e501185226e d7ad26f0-ee2d-4a35-9f25-c860af727cbd g.chr3:65425585C>T ENST00000330909.8 - 9 1238 c.1239G>A c.(1237-1239)caG>caA p.Q413Q MAGI1_ENST00000483466.1_Silent_p.Q413Q|MAGI1_ENST00000497477.2_Silent_p.Q413Q|MAGI1_ENST00000402939.2_Silent_p.Q413Q|MAGI1_ENST00000470990.1_5'UTR NM_015520.1 NP_056335.1 Q96QZ7 MAGI1_HUMAN membrane associated guanylate kinase, WW and PDZ domain containing 1 413 Poly-Gln. cell adhesion|cell surface receptor linked signaling pathway|protein complex assembly tight junction ATP binding|protein C-terminus binding breast(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(11)|liver(1)|lung(21)|pancreas(1)|skin(5) 51 Lung NSC(201;0.0016) BRCA - Breast invasive adenocarcinoma(55;0.00138)|KIRC - Kidney renal clear cell carcinoma(15;0.0988)|Kidney(15;0.133) gctgctgctgctgctgttgct 0.537000 OREG0015658 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 5 110 0 0 1 0 0 HIST1H2BL 8340 broad.mit.edu 37 6 27775389 27775389 + Missense_Mutation SNP A A T TCGA-XJ-A83F-01A-11D-A34U-08 TCGA-XJ-A83F-10A-01D-A34X-08 Untested Somatic Phase_I WXS none Illumina GAIIx aaa16e66-2563-4c7c-8209-3e501185226e d7ad26f0-ee2d-4a35-9f25-c860af727cbd g.chr6:27775389A>T ENST00000377401.2 - 1 320 c.296T>A c.(295-297)gTg>gAg p.V99E NM_003519.3 NP_003510.1 Q99880 H2B1L_HUMAN histone cluster 1, H2bl 99 nucleosome assembly nucleosome|nucleus DNA binding cervix(1)|endometrium(1)|large_intestine(2)|lung(7)|urinary_tract(1) 12 CAGCAGGCGCACGGCGGTCTG 0.617000 41 74 0 0 1 0 0 ATP2A1 487 broad.mit.edu 37 16 28898525 28898525 + Missense_Mutation SNP T T C TCGA-XJ-A83F-01A-11D-A34U-08 TCGA-XJ-A83F-10A-01D-A34X-08 Untested Somatic Phase_I WXS none Illumina GAIIx aaa16e66-2563-4c7c-8209-3e501185226e d7ad26f0-ee2d-4a35-9f25-c860af727cbd g.chr16:28898525T>C ENST00000395503.4 + 7 744 c.560T>C c.(559-561)gTc>gCc p.V187A ATP2A1_ENST00000536376.1_Missense_Mutation_p.V62A|ATP2A1_ENST00000357084.3_Missense_Mutation_p.V187A NM_004320.4 NP_004311.1 O14983 AT2A1_HUMAN ATPase, Ca++ transporting, cardiac muscle, fast twitch 1 187 apoptosis in response to endoplasmic reticulum stress|apoptotic mitochondrial changes|ATP biosynthetic process|calcium ion import|elevation of endoplasmic reticulum calcium ion concentration|elevation of mitochondrial calcium ion concentration|maintenance of mitochondrion location|negative regulation of striated muscle contraction|platelet activation|positive regulation of fast-twitch skeletal muscle fiber contraction|reduction of endoplasmic reticulum calcium ion concentration|relaxation of skeletal muscle|response to endoplasmic reticulum stress endoplasmic reticulum membrane|ER-Golgi intermediate compartment|H zone|I band|microsome|perinuclear region of cytoplasm|platelet dense tubular network membrane|sarcoplasmic reticulum|sarcoplasmic reticulum membrane ATP binding|calcium ion binding|calcium-transporting ATPase activity|protein homodimerization activity breast(1)|central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(7)|lung(10)|ovary(4)|pancreas(1)|prostate(2)|skin(3)|urinary_tract(2) 38 TCTGTATCTGTCATCAAACAC 0.562000 10 76 0 0 1 0 0 COL7A1 1294 broad.mit.edu 37 3 48611982 48611982 + Splice_Site SNP C C T TCGA-XJ-A83F-01A-11D-A34U-08 TCGA-XJ-A83F-10A-01D-A34X-08 Untested Somatic Phase_I WXS none Illumina GAIIx aaa16e66-2563-4c7c-8209-3e501185226e d7ad26f0-ee2d-4a35-9f25-c860af727cbd g.chr3:48611982C>T ENST00000328333.8 - 78 6502 c.6393_splice c.e78-1 p.G2132_splice COL7A1_ENST00000454817.1_Splice_Site_p.G2100_splice NM_000094.3 NP_000085.1 Q02388 CO7A1_HUMAN collagen, type VII, alpha 1 2132 Triple-helical region. G -> D (in RDEB). cell adhesion|epidermis development basement membrane|collagen type VII protein binding|serine-type endopeptidase inhibitor activity NS(3)|breast(8)|central_nervous_system(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(18)|lung(57)|ovary(7)|prostate(5)|skin(9)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(5) 137 BRCA - Breast invasive adenocarcinoma(193;0.000293)|KIRC - Kidney renal clear cell carcinoma(197;0.00558)|Kidney(197;0.00632) GCCTGGCACACCCTGAAGGCA 0.627000 9 27 0 0 1 0 0 SDK1 221935 broad.mit.edu 37 7 4007037 4007037 + Missense_Mutation SNP C C T TCGA-XJ-A83F-01A-11D-A34U-08 TCGA-XJ-A83F-10A-01D-A34X-08 Untested Somatic Phase_I WXS none Illumina GAIIx aaa16e66-2563-4c7c-8209-3e501185226e d7ad26f0-ee2d-4a35-9f25-c860af727cbd g.chr7:4007037C>T ENST00000404826.2 + 10 1656 c.1517C>T c.(1516-1518)gCt>gTt p.A506V SDK1_ENST00000389531.3_Missense_Mutation_p.A506V NM_152744.3 NP_689957.3 Q7Z5N4 SDK1_HUMAN sidekick cell adhesion molecule 1 506 Ig-like C2-type 5. cell adhesion integral to membrane NS(1)|breast(6)|central_nervous_system(3)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(42)|lung(55)|ovary(4)|pancreas(1)|prostate(4)|skin(6)|upper_aerodigestive_tract(4)|urinary_tract(4) 153 all_cancers(1;0.127)|Ovarian(82;0.0177)|Myeloproliferative disorder(862;0.194) UCEC - Uterine corpus endometrioid carcinoma (126;0.121)|OV - Ovarian serous cystadenocarcinoma(56;9.65e-15) GTGTCCGGGGCTCCCAAACCC 0.562000 10 58 0 0 1 0 0 HUNK 30811 broad.mit.edu 37 21 33318387 33318387 + Missense_Mutation SNP C C T TCGA-XJ-A83F-01A-11D-A34U-08 TCGA-XJ-A83F-10A-01D-A34X-08 Untested Somatic Phase_I WXS none Illumina GAIIx aaa16e66-2563-4c7c-8209-3e501185226e d7ad26f0-ee2d-4a35-9f25-c860af727cbd g.chr21:33318387C>T ENST00000270112.2 + 4 1010 c.650C>T c.(649-651)tCg>tTg p.S217L NM_014586.1 NP_055401.1 P57058 HUNK_HUMAN hormonally up-regulated Neu-associated kinase 217 Protein kinase. multicellular organismal development|signal transduction ATP binding|protein serine/threonine kinase activity breast(1)|endometrium(3)|kidney(1)|large_intestine(6)|lung(15)|ovary(1)|skin(2)|stomach(1) 30 CTGGGTTACTCGGATCCGTTC 0.522000 53 99 0 0 1 0 0 ZNF445 353274 broad.mit.edu 37 3 44488987 44488987 + Missense_Mutation SNP C C A TCGA-XJ-A83F-01A-11D-A34U-08 TCGA-XJ-A83F-10A-01D-A34X-08 Untested Somatic Phase_I WXS none Illumina GAIIx aaa16e66-2563-4c7c-8209-3e501185226e d7ad26f0-ee2d-4a35-9f25-c860af727cbd g.chr3:44488987C>A ENST00000425708.2 - 7 2517 c.2176G>T c.(2176-2178)Gtt>Ttt p.V726F ZNF445_ENST00000396077.2_Missense_Mutation_p.V726F P59923 ZN445_HUMAN zinc finger protein 445 726 viral reproduction nucleus DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding breast(1)|endometrium(5)|kidney(3)|large_intestine(8)|lung(8)|ovary(2)|pancreas(1)|skin(3) 31 KIRC - Kidney renal clear cell carcinoma(197;0.0514)|Kidney(197;0.0646) TTCTTATGAACAATAAAGGCT 0.458000 52 117 9.45407e-15 9.45407e-15 1 1 0 SLC12A2 6558 broad.mit.edu 37 5 127516605 127516605 + Missense_Mutation SNP C C T TCGA-XJ-A83F-01A-11D-A34U-08 TCGA-XJ-A83F-10A-01D-A34X-08 Untested Somatic Phase_I WXS none Illumina GAIIx aaa16e66-2563-4c7c-8209-3e501185226e d7ad26f0-ee2d-4a35-9f25-c860af727cbd g.chr5:127516605C>T ENST00000262461.2 + 23 3320 c.3131C>T c.(3130-3132)aCg>aTg p.T1044M SLC12A2_ENST00000507791.1_3'UTR|SLC12A2_ENST00000343225.4_Missense_Mutation_p.T1028M NM_001046.2 NP_001037.1 P55011 S12A2_HUMAN solute carrier family 12 (sodium/potassium/chloride transporter), member 2 1044 potassium ion transport|sodium ion transport|transepithelial ammonium transport|transepithelial chloride transport integral to plasma membrane|membrane fraction ammonia transmembrane transporter activity|sodium:potassium:chloride symporter activity breast(3)|endometrium(5)|kidney(5)|large_intestine(12)|lung(16)|ovary(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2) 48 all_cancers(142;0.0972)|Prostate(80;0.151) KIRC - Kidney renal clear cell carcinoma(527;0.0268)|Kidney(363;0.0488) Epithelial(69;0.0433)|OV - Ovarian serous cystadenocarcinoma(64;0.0978) Bumetanide(DB00887)|Potassium Chloride(DB00761) TACCTTCTGACGACCAAGAAA 0.318000 39 72 0 0 1 0 0 SERPINF2 5345 broad.mit.edu 37 17 1649162 1649162 + Missense_Mutation SNP C C T TCGA-XJ-A83F-01A-11D-A34U-08 TCGA-XJ-A83F-10A-01D-A34X-08 Untested Somatic Phase_I WXS none Illumina GAIIx aaa16e66-2563-4c7c-8209-3e501185226e d7ad26f0-ee2d-4a35-9f25-c860af727cbd g.chr17:1649162C>T ENST00000324015.3 + 5 403 c.326C>T c.(325-327)tCa>tTa p.S109L SERPINF2_ENST00000450523.2_Intron|SERPINF2_ENST00000382061.4_Missense_Mutation_p.S109L NM_000934.3 NP_000925.2 P08697 A2AP_HUMAN serpin peptidase inhibitor, clade F (alpha-2 antiplasmin, pigment epithelium derived factor), member 2 109 acute-phase response|fibrinolysis|platelet activation|platelet degranulation|regulation of proteolysis extracellular space|platelet alpha granule lumen protease binding|serine-type endopeptidase inhibitor activity breast(2)|endometrium(1)|kidney(2)|lung(4)|prostate(1)|skin(1)|upper_aerodigestive_tract(1) 12 UCEC - Uterine corpus endometrioid carcinoma (25;0.0822) Streptokinase(DB00086) CTCATCCTGTCACCCCTGAGT 0.627000 40 80 0 0 1 0 0 FCRL3 115352 broad.mit.edu 37 1 157668405 157668405 + Missense_Mutation SNP C C G TCGA-XJ-A83F-01A-11D-A34U-08 TCGA-XJ-A83F-10A-01D-A34X-08 Untested Somatic Phase_I WXS none Illumina GAIIx aaa16e66-2563-4c7c-8209-3e501185226e d7ad26f0-ee2d-4a35-9f25-c860af727cbd g.chr1:157668405C>G ENST00000368184.3 - 4 358 c.67G>C c.(67-69)Gct>Cct p.A23P FCRL3_ENST00000368186.5_Missense_Mutation_p.A23P NM_052939.3 NP_443171.2 Q96P31 FCRL3_HUMAN Fc receptor-like 3 23 Ig-like C2-type 1. integral to membrane|plasma membrane receptor activity autonomic_ganglia(1)|breast(3)|endometrium(7)|kidney(1)|large_intestine(13)|lung(31)|ovary(3)|prostate(3)|skin(5)|upper_aerodigestive_tract(2) 69 all_hematologic(112;0.0378) AGAAGTACAGCTTTTGGGGCC 0.527000 11 53 0 0 1 0 0 TTN 7273 broad.mit.edu 37 2 179592369 179592369 + Missense_Mutation SNP A A G TCGA-XJ-A83F-01A-11D-A34U-08 TCGA-XJ-A83F-10A-01D-A34X-08 Untested Somatic Phase_I WXS none Illumina GAIIx aaa16e66-2563-4c7c-8209-3e501185226e d7ad26f0-ee2d-4a35-9f25-c860af727cbd g.chr2:179592369A>G ENST00000589042.1 - 68 20160 c.19936T>C c.(19936-19938)Tgc>Cgc p.C6646R TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000460472.2_Intron|TTN_ENST00000342992.6_Missense_Mutation_p.C5402R|TTN_ENST00000359218.5_Intron|TTN_ENST00000342175.6_Intron|TTN_ENST00000591111.1_Missense_Mutation_p.C6329R NM_001267550.1 NP_001254479.1 Q8WZ42 TITIN_HUMAN titin 6329 Ig-like 48. 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) GTAACATGGCAAGTATACTGT 0.423000 70 136 0 0 1 0 0 METTL13 51603 broad.mit.edu 37 1 171756946 171756946 + Silent SNP C C T TCGA-XJ-A83F-01A-11D-A34U-08 TCGA-XJ-A83F-10A-01D-A34X-08 Untested Somatic Phase_I WXS none Illumina GAIIx aaa16e66-2563-4c7c-8209-3e501185226e d7ad26f0-ee2d-4a35-9f25-c860af727cbd g.chr1:171756946C>T ENST00000361735.3 + 4 1451 c.1185C>T c.(1183-1185)agC>agT p.S395S METTL13_ENST00000362019.3_Silent_p.S309S|METTL13_ENST00000458517.1_Silent_p.S394S|METTL13_ENST00000367737.5_Silent_p.S239S NM_015935.4 NP_057019.3 Q8N6R0 MTL13_HUMAN methyltransferase like 13 395 methyltransferase activity|protein binding breast(3)|cervix(1)|endometrium(4)|kidney(5)|large_intestine(8)|lung(17)|stomach(3) 41 GCCCCTTGAGCGGTGACTATG 0.547000 13 15 0 0 1 0 0 ZNF835 90485 broad.mit.edu 37 19 57175802 57175802 + Silent SNP G G A TCGA-XJ-A83F-01A-11D-A34U-08 TCGA-XJ-A83F-10A-01D-A34X-08 Untested Somatic Phase_I WXS none Illumina GAIIx aaa16e66-2563-4c7c-8209-3e501185226e d7ad26f0-ee2d-4a35-9f25-c860af727cbd g.chr19:57175802G>A ENST00000537055.2 - 2 996 c.765C>T c.(763-765)tgC>tgT p.C255C NM_001005850.2 NP_001005850.2 zinc finger protein 835 endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(10)|lung(22)|pancreas(3)|prostate(3)|skin(1)|stomach(1)|upper_aerodigestive_tract(3) 47 AGGCCTTGGCGCACGCGGAGC 0.682000 22 20 0 0 1 0 0 OR8D4 338662 broad.mit.edu 37 11 123777934 123777934 + Missense_Mutation SNP A A T TCGA-XJ-A83F-01A-11D-A34U-08 TCGA-XJ-A83F-10A-01D-A34X-08 Untested Somatic Phase_I WXS none Illumina GAIIx aaa16e66-2563-4c7c-8209-3e501185226e d7ad26f0-ee2d-4a35-9f25-c860af727cbd g.chr11:123777934A>T ENST00000321355.2 + 1 826 c.796A>T c.(796-798)Agt>Tgt p.S266C NM_001005197.1 NP_001005197.1 Q8NGM9 OR8D4_HUMAN olfactory receptor, family 8, subfamily D, member 4 266 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity large_intestine(1)|lung(16)|prostate(1)|skin(2)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1) 25 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;4.93e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0409) TGCTTCTAGCAGTTCACTCAC 0.428000 13 95 0 0 1 0 0 CYP2D7P1 0 broad.mit.edu 37 22 42538870 42538870 + RNA SNP A A C rs2982057 by1000genomes TCGA-XJ-A83F-01A-11D-A34U-08 TCGA-XJ-A83F-10A-01D-A34X-08 Untested Somatic Phase_I WXS none Illumina GAIIx aaa16e66-2563-4c7c-8209-3e501185226e d7ad26f0-ee2d-4a35-9f25-c860af727cbd g.chr22:42538870A>C ENST00000358097.4 - 0 449 CYP2D7P1_ENST00000424775.1_RNA|CYP2D7P1_ENST00000433992.1_RNA endometrium(1) 1 CCATAGCGCGACAGGAACACC 0.687000 3 29 0 0 1 0 0 SEMA7A 8482 broad.mit.edu 37 15 74703250 74703250 + Silent SNP G G A TCGA-XJ-A83F-01A-11D-A34U-08 TCGA-XJ-A83F-10A-01D-A34X-08 Untested Somatic Phase_I WXS none Illumina GAIIx aaa16e66-2563-4c7c-8209-3e501185226e d7ad26f0-ee2d-4a35-9f25-c860af727cbd g.chr15:74703250G>A ENST00000261918.4 - 14 2264 c.1716C>T c.(1714-1716)caC>caT p.H572H SEMA7A_ENST00000542748.1_Silent_p.H407H|SEMA7A_ENST00000543145.2_Silent_p.H558H NM_003612.3 NP_003603.1 O75326 SEM7A_HUMAN semaphorin 7A, GPI membrane anchor (John Milton Hagen blood group) 572 Ig-like C2-type. axon guidance|immune response|inflammatory response|integrin-mediated signaling pathway|positive regulation of axon extension|positive regulation of ERK1 and ERK2 cascade|positive regulation of macrophage cytokine production|regulation of inflammatory response anchored to membrane|external side of plasma membrane receptor activity breast(3)|central_nervous_system(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(4)|large_intestine(3)|lung(12)|upper_aerodigestive_tract(1) 30 AGTAGGTGGCGTGGCGGGATT 0.622000 41 70 0 0 1 0 0 TMEM257 9142 broad.mit.edu 37 X 144909435 144909435 + Silent SNP G G A TCGA-XJ-A83F-01A-11D-A34U-08 TCGA-XJ-A83F-10A-01D-A34X-08 Untested Somatic Phase_I WXS none Illumina GAIIx aaa16e66-2563-4c7c-8209-3e501185226e d7ad26f0-ee2d-4a35-9f25-c860af727cbd g.chrX:144909435G>A ENST00000408967.2 + 1 508 c.240G>A c.(238-240)acG>acA p.T80T NM_004709.2 NP_004700.1 transmembrane protein 257 p.T80T(1) GCTTTAAGACGTATGAGCATC 0.398000 3 32 0 0 1 0 0 AASDH 132949 broad.mit.edu 37 4 57216169 57216171 + In_Frame_Del DEL AAG AAG - TCGA-XJ-A83F-01A-11D-A34U-08 TCGA-XJ-A83F-10A-01D-A34X-08 Untested Somatic Phase_I WXS none Illumina GAIIx aaa16e66-2563-4c7c-8209-3e501185226e d7ad26f0-ee2d-4a35-9f25-c860af727cbd g.chr4:57216169_57216171delAAG ENST00000205214.6 - 11 1926_1928 c.1746_1748delCTT c.(1744-1749)tta>tt p.FL582del AASDH_ENST00000434343.2_In_Frame_Del_p.FL97del|AASDH_ENST00000451613.1_In_Frame_Del_p.FL582del|AASDH_ENST00000502617.1_In_Frame_Del_p.FL582del|AASDH_ENST00000513376.1_In_Frame_Del_p.FL482del|AASDH_ENST00000602986.1_In_Frame_Del_p.FL429del NM_181806.2 NP_861522.2 Q4L235 ACSF4_HUMAN aminoadipate-semialdehyde dehydrogenase 582 Acyl carrier. fatty acid metabolic process acid-thiol ligase activity|acyl carrier activity|ATP binding|cofactor binding endometrium(2)|kidney(2)|large_intestine(8)|lung(17)|ovary(4)|prostate(3)|skin(2)|stomach(1)|urinary_tract(1) 40 Glioma(25;0.08)|all_neural(26;0.101) all_hematologic(202;0.0017) ACCACTATTTAAGAAGAGTGACT 0.414 14 26 --- --- --- --- STRC 161497 broad.mit.edu 37 15 43910307 43910307 + Frame_Shift_Del DEL G G - TCGA-XJ-A83F-01A-11D-A34U-08 TCGA-XJ-A83F-10A-01D-A34X-08 Untested Somatic Phase_I WXS none Illumina GAIIx aaa16e66-2563-4c7c-8209-3e501185226e d7ad26f0-ee2d-4a35-9f25-c860af727cbd g.chr15:43910307delG ENST00000450892.2 - 2 389 c.312delC c.(310-312)ccfs p.P104fs STRC_ENST00000541030.1_5'UTR NM_153700.2 NP_714544.1 Q7RTU9 STRC_HUMAN stereocilin 104 sensory perception of sound cell surface skin(4) 4 all_cancers(109;3.26e-15)|all_epithelial(112;1.48e-12)|Lung NSC(122;2.76e-08)|all_lung(180;3.1e-07)|Melanoma(134;0.027)|Colorectal(260;0.215) GBM - Glioblastoma multiforme(94;3.56e-07) GCTCCCAGTCGGGGCTACCTC 0.622 2 4 --- --- --- --- HIRA 7290 broad.mit.edu 37 22 19365430 19365430 + Frame_Shift_Del DEL G G - TCGA-XJ-A83F-01A-11D-A34U-08 TCGA-XJ-A83F-10A-01D-A34X-08 Untested Somatic Phase_I WXS none Illumina GAIIx aaa16e66-2563-4c7c-8209-3e501185226e d7ad26f0-ee2d-4a35-9f25-c860af727cbd g.chr22:19365430delG ENST00000263208.5 - 14 1831 c.1575delC c.(1573-1575)gcfs p.A525fs HIRA_ENST00000340170.4_Frame_Shift_Del_p.A525fs|HIRA_ENST00000541063.1_Frame_Shift_Del_p.A481fs|HIRA_ENST00000546308.1_Frame_Shift_Del_p.A481fs NM_003325.3 NP_003316.3 P54198 HIRA_HUMAN histone cell cycle regulator 525 Interaction with CCNA1. chromatin modification|regulation of transcription from RNA polymerase II promoter PML body chromatin binding|protein binding|sequence-specific DNA binding transcription factor activity|transcription corepressor activity autonomic_ganglia(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(14)|ovary(2)|prostate(1)|skin(1) 37 Colorectal(54;0.0993) GTCTGGCACTGGCAGCCACCA 0.547 53 97 --- --- --- ---