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 OR6N1 128372 broad.mit.edu 37 1 158735834 158735834 + Silent SNP C C A TCGA-VP-A875-01A-31D-A34U-08 TCGA-VP-A875-10A-01D-A34X-08 Untested Somatic Phase_I WXS none Illumina GAIIx b5f978ce-bc06-49da-99f3-b9064fdbe024 2e305204-80d3-4c7c-b416-3ceb01e18ae0 g.chr1:158735834C>A ENST00000335094.2 - 1 658 c.639G>T c.(637-639)ctG>ctT p.L213L NM_001005185.1 NP_001005185.1 Q8NGY5 OR6N1_HUMAN olfactory receptor, family 6, subfamily N, member 1 213 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(12)|lung(22)|ovary(1)|pancreas(1)|prostate(6)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2) 54 all_hematologic(112;0.0378) AGCAGAGGATCAGCAGGAAGG 0.498 7 108 --- --- --- --- CACNA1S 779 broad.mit.edu 37 1 201044699 201044699 + Missense_Mutation SNP G G C TCGA-VP-A875-01A-31D-A34U-08 TCGA-VP-A875-10A-01D-A34X-08 Untested Somatic Phase_I WXS none Illumina GAIIx b5f978ce-bc06-49da-99f3-b9064fdbe024 2e305204-80d3-4c7c-b416-3ceb01e18ae0 g.chr1:201044699G>C ENST00000362061.3 - 13 2098 c.1872C>G c.(1870-1872)atC>atG p.I624M CACNA1S_ENST00000367338.3_Missense_Mutation_p.I624M NM_000069.2 NP_000060.2 Q13698 CAC1S_HUMAN calcium channel, voltage-dependent, L type, alpha 1S subunit 624 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) CGTAGGCCATGATCCCATTGT 0.547 18 61 --- --- --- --- CACNA1S 779 broad.mit.edu 37 1 201046060 201046060 + Silent SNP G G A TCGA-VP-A875-01A-31D-A34U-08 TCGA-VP-A875-10A-01D-A34X-08 Untested Somatic Phase_I WXS none Illumina GAIIx b5f978ce-bc06-49da-99f3-b9064fdbe024 2e305204-80d3-4c7c-b416-3ceb01e18ae0 g.chr1:201046060G>A ENST00000362061.3 - 12 2041 c.1815C>T c.(1813-1815)atC>atT p.I605I CACNA1S_ENST00000367338.3_Silent_p.I605I NM_000069.2 NP_000060.2 Q13698 CAC1S_HUMAN calcium channel, voltage-dependent, L type, alpha 1S subunit 605 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) ggaagacgctgatgagggCTT 0.542 26 34 --- --- --- --- CACNA1S 779 broad.mit.edu 37 1 201046222 201046222 + Silent SNP G G A TCGA-VP-A875-01A-31D-A34U-08 TCGA-VP-A875-10A-01D-A34X-08 Untested Somatic Phase_I WXS none Illumina GAIIx b5f978ce-bc06-49da-99f3-b9064fdbe024 2e305204-80d3-4c7c-b416-3ceb01e18ae0 g.chr1:201046222G>A ENST00000362061.3 - 12 1879 c.1653C>T c.(1651-1653)tcC>tcT p.S551S CACNA1S_ENST00000367338.3_Silent_p.S551S NM_000069.2 NP_000060.2 Q13698 CAC1S_HUMAN calcium channel, voltage-dependent, L type, alpha 1S subunit 551 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) AGTTGAGCAGGGATGCCACCA 0.607 13 33 --- --- --- --- ABHD1 84696 broad.mit.edu 37 2 27351917 27351917 + Missense_Mutation SNP T T G TCGA-VP-A875-01A-31D-A34U-08 TCGA-VP-A875-10A-01D-A34X-08 Untested Somatic Phase_I WXS none Illumina GAIIx b5f978ce-bc06-49da-99f3-b9064fdbe024 2e305204-80d3-4c7c-b416-3ceb01e18ae0 g.chr2:27351917T>G ENST00000316470.4 + 3 494 c.380T>G c.(379-381)cTg>cGg p.L127R NM_032604.3 NP_115993 Q96SE0 ABHD1_HUMAN abhydrolase domain containing 1 127 integral to membrane carboxylesterase activity endometrium(1)|kidney(1)|lung(3) 5 Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215) ATTGTGCTGCTGCTTCCTGGC 0.567 11 28 --- --- --- --- NYAP2 57624 broad.mit.edu 37 2 226447087 226447087 + Silent SNP G G T TCGA-VP-A875-01A-31D-A34U-08 TCGA-VP-A875-10A-01D-A34X-08 Untested Somatic Phase_I WXS none Illumina GAIIx b5f978ce-bc06-49da-99f3-b9064fdbe024 2e305204-80d3-4c7c-b416-3ceb01e18ae0 g.chr2:226447087G>T ENST00000272907.6 + 4 1367 c.954G>T c.(952-954)ctG>ctT p.L318L NYAP2_ENST00000409269.2_Intron NM_020864.1 NP_065915.1 Q9P242 K1486_HUMAN neuronal tyrosine-phosphorylated phosphoinositide-3-kinase adaptor 2 318 Pro-rich. CCAAGGGGCTGCTTTGCGACA 0.632 9 32 --- --- --- --- NT5DC2 64943 broad.mit.edu 37 3 52559262 52559262 + Missense_Mutation SNP A A T TCGA-VP-A875-01A-31D-A34U-08 TCGA-VP-A875-10A-01D-A34X-08 Untested Somatic Phase_I WXS none Illumina GAIIx b5f978ce-bc06-49da-99f3-b9064fdbe024 2e305204-80d3-4c7c-b416-3ceb01e18ae0 g.chr3:52559262A>T ENST00000307076.4 - 11 1458 c.1058T>A c.(1057-1059)gTg>gAg p.V353E NT5DC2_ENST00000307092.4_Missense_Mutation_p.V294E|NT5DC2_ENST00000422318.2_Missense_Mutation_p.V390E|NT5DC2_ENST00000459839.1_Missense_Mutation_p.V365E NM_022908.2 NP_075059.1 Q9H857 NT5D2_HUMAN 5'-nucleotidase domain containing 2 353 hydrolase activity|metal ion binding endometrium(1)|lung(3)|prostate(1)|stomach(1) 6 BRCA - Breast invasive adenocarcinoma(193;1.7e-05)|Kidney(197;0.00177)|KIRC - Kidney renal clear cell carcinoma(197;0.002)|OV - Ovarian serous cystadenocarcinoma(275;0.0476) GAAGTAGAGCACGCGGGGGCC 0.652 4 28 --- --- --- --- IMPG2 50939 broad.mit.edu 37 3 101023020 101023020 + Silent SNP T T C TCGA-VP-A875-01A-31D-A34U-08 TCGA-VP-A875-10A-01D-A34X-08 Untested Somatic Phase_I WXS none Illumina GAIIx b5f978ce-bc06-49da-99f3-b9064fdbe024 2e305204-80d3-4c7c-b416-3ceb01e18ae0 g.chr3:101023020T>C ENST00000193391.7 - 3 658 c.471A>G c.(469-471)gaA>gaG p.E157E NM_016247.3 NP_057331.2 Q9BZV3 IMPG2_HUMAN interphotoreceptor matrix proteoglycan 2 157 visual perception integral to membrane|proteinaceous extracellular matrix extracellular matrix structural constituent|heparin binding|hyaluronic acid binding|receptor activity NS(1)|breast(2)|cervix(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(14)|lung(32)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 64 GTTCCACAGATTCACTAAAAT 0.408 15 76 --- --- --- --- FNDC3B 64778 broad.mit.edu 37 3 172096070 172096070 + Missense_Mutation SNP A A G TCGA-VP-A875-01A-31D-A34U-08 TCGA-VP-A875-10A-01D-A34X-08 Untested Somatic Phase_I WXS none Illumina GAIIx b5f978ce-bc06-49da-99f3-b9064fdbe024 2e305204-80d3-4c7c-b416-3ceb01e18ae0 g.chr3:172096070A>G ENST00000336824.4 + 24 3118 c.3019A>G c.(3019-3021)Atc>Gtc p.I1007V FNDC3B_ENST00000415807.2_Missense_Mutation_p.I1007V|FNDC3B_ENST00000416957.1_Missense_Mutation_p.I1007V NM_001135095.1 NP_001128567.1 Q53EP0 FND3B_HUMAN fibronectin type III domain containing 3B 1007 Fibronectin type-III 8. endoplasmic reticulum|integral to membrane breast(3)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(12)|lung(26)|ovary(3)|prostate(2)|skin(3)|stomach(2)|upper_aerodigestive_tract(4)|urinary_tract(1) 69 all_cancers(22;1.01e-18)|Ovarian(172;0.00167)|Breast(254;0.165) LUSC - Lung squamous cell carcinoma(14;3.57e-14)|Lung(28;9.39e-14) GBM - Glioblastoma multiforme(1;0.0494) GTTTATTTCAATCTACAGAGG 0.453 19 23 --- --- --- --- PEX5L 51555 broad.mit.edu 37 3 179605498 179605498 + Silent SNP C C T TCGA-VP-A875-01A-31D-A34U-08 TCGA-VP-A875-10A-01D-A34X-08 Untested Somatic Phase_I WXS none Illumina GAIIx b5f978ce-bc06-49da-99f3-b9064fdbe024 2e305204-80d3-4c7c-b416-3ceb01e18ae0 g.chr3:179605498C>T ENST00000467460.1 - 4 603 c.273G>A c.(271-273)tcG>tcA p.S91S PEX5L_ENST00000392649.3_Silent_p.S48S|PEX5L_ENST00000476138.1_Silent_p.S48S|PEX5L_ENST00000468741.1_5'UTR|PEX5L_ENST00000485199.1_Silent_p.S56S|PEX5L_ENST00000263962.8_Silent_p.S89S|PEX5L_ENST00000472994.1_Silent_p.S32S|PEX5L_ENST00000464614.1_Silent_p.S48S|PEX5L_ENST00000465751.1_Silent_p.S67S|PEX5L_ENST00000467440.2_5'UTR NM_001256751.1|NM_016559.2 NP_001243680.1|NP_057643.1 Q8IYB4 PEX5R_HUMAN peroxisomal biogenesis factor 5-like 91 protein import into peroxisome matrix|regulation of cAMP-mediated signaling cytosol|peroxisomal membrane peroxisome matrix targeting signal-1 binding breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(7)|lung(23)|ovary(3)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 49 all_cancers(143;3.94e-14)|Ovarian(172;0.0338)|Breast(254;0.183) OV - Ovarian serous cystadenocarcinoma(80;1.75e-26)|GBM - Glioblastoma multiforme(14;0.000518) CTATTGCTTCCGATTTGGTTT 0.413 22 80 --- --- --- --- F11 2160 broad.mit.edu 37 4 187201491 187201491 + Missense_Mutation SNP G G A TCGA-VP-A875-01A-31D-A34U-08 TCGA-VP-A875-10A-01D-A34X-08 Untested Somatic Phase_I WXS none Illumina GAIIx b5f978ce-bc06-49da-99f3-b9064fdbe024 2e305204-80d3-4c7c-b416-3ceb01e18ae0 g.chr4:187201491G>A ENST00000264692.4 + 9 1157 c.824G>A c.(823-825)tGc>tAc p.C275Y F11_ENST00000403665.2_Missense_Mutation_p.C327Y P03951 FA11_HUMAN coagulation factor XI 327 Apple 3. blood coagulation, intrinsic pathway|plasminogen activation|positive regulation of fibrinolysis extracellular space|plasma membrane heparin binding|serine-type endopeptidase activity NS(2)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(5)|lung(15)|prostate(2)|skin(1)|stomach(2)|upper_aerodigestive_tract(1) 32 all_cancers(14;6.2e-52)|all_epithelial(14;1.62e-38)|all_lung(41;1.34e-13)|Lung NSC(41;3.58e-13)|Melanoma(20;1.91e-06)|Hepatocellular(41;0.00886)|Renal(120;0.00988)|Prostate(90;0.00996)|all_hematologic(60;0.014)|Colorectal(36;0.0161)|all_neural(102;0.202) OV - Ovarian serous cystadenocarcinoma(60;2.13e-11)|BRCA - Breast invasive adenocarcinoma(30;4.59e-06)|GBM - Glioblastoma multiforme(59;0.000149)|STAD - Stomach adenocarcinoma(60;0.000314)|LUSC - Lung squamous cell carcinoma(40;0.00112)|READ - Rectum adenocarcinoma(43;0.176) Coagulation Factor IX(DB00100) GCCGTCCGCTGCCAGTTTTTT 0.498 12 101 --- --- --- --- SLC25A46 91137 broad.mit.edu 37 5 110097084 110097084 + Silent SNP C C T TCGA-VP-A875-01A-31D-A34U-08 TCGA-VP-A875-10A-01D-A34X-08 Untested Somatic Phase_I WXS none Illumina GAIIx b5f978ce-bc06-49da-99f3-b9064fdbe024 2e305204-80d3-4c7c-b416-3ceb01e18ae0 g.chr5:110097084C>T ENST00000355943.3 + 8 985 c.859C>T c.(859-861)Cta>Tta p.L287L SLC25A46_ENST00000509432.1_Silent_p.L74L|SLC25A46_ENST00000509442.2_Silent_p.L196L|SLC25A46_ENST00000447245.2_Intron|SLC25A46_ENST00000513807.1_Silent_p.L125L|SLC25A46_ENST00000513706.1_3'UTR|SLC25A46_ENST00000504098.1_Silent_p.L141L NM_138773.1 NP_620128.1 Q96AG3 S2546_HUMAN solute carrier family 25, member 46 287 transport integral to membrane|mitochondrial inner membrane breast(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(4)|skin(1) 10 all_cancers(142;0.00203)|all_epithelial(76;4.52e-05)|Prostate(80;0.0115)|Colorectal(57;0.0676)|Ovarian(225;0.156) OV - Ovarian serous cystadenocarcinoma(64;2.58e-09)|Epithelial(69;7.29e-08)|all cancers(49;9.35e-06)|COAD - Colon adenocarcinoma(37;0.211) GAAGTTTGTCCTACTAATTCT 0.408 14 78 --- --- --- --- PCDHB2 56133 broad.mit.edu 37 5 140475876 140475876 + Missense_Mutation SNP C C T TCGA-VP-A875-01A-31D-A34U-08 TCGA-VP-A875-10A-01D-A34X-08 Untested Somatic Phase_I WXS none Illumina GAIIx b5f978ce-bc06-49da-99f3-b9064fdbe024 2e305204-80d3-4c7c-b416-3ceb01e18ae0 g.chr5:140475876C>T ENST00000194155.4 + 1 1650 c.1502C>T c.(1501-1503)cCc>cTc p.P501L NM_018936.2 NP_061759.1 Q9Y5E7 PCDB2_HUMAN 501 Cadherin 5. calcium-dependent cell-cell adhesion|homophilic cell adhesion|synapse assembly|synaptic transmission integral to plasma membrane calcium ion binding NS(1)|breast(1)|endometrium(3)|kidney(1)|large_intestine(22)|lung(24)|ovary(3)|pancreas(1)|prostate(3)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(2) 71 KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339) CCGCACCTGCCCCTCGCCTCC 0.692 8 122 --- --- --- --- ACTB 60 broad.mit.edu 37 7 5568828 5568828 + Silent SNP G G A TCGA-VP-A875-01A-31D-A34U-08 TCGA-VP-A875-10A-01D-A34X-08 Untested Somatic Phase_I WXS none Illumina GAIIx b5f978ce-bc06-49da-99f3-b9064fdbe024 2e305204-80d3-4c7c-b416-3ceb01e18ae0 g.chr7:5568828G>A ENST00000331789.5 - 3 518 c.327C>T c.(325-327)ccC>ccT p.P109P NM_001101.3 NP_001092.1 P60709 ACTB_HUMAN actin, beta 109 'de novo' posttranslational protein folding|adherens junction organization|axon guidance|blood coagulation|cell junction assembly|cellular component movement cytoskeleton|cytosol|MLL5-L complex|NuA4 histone acetyltransferase complex|ribonucleoprotein complex ATP binding|kinesin binding|nitric-oxide synthase binding|structural constituent of cytoskeleton NS(1)|central_nervous_system(1)|large_intestine(2)|lung(2)|prostate(2) 8 Ovarian(82;0.0606) UCEC - Uterine corpus endometrioid carcinoma (126;0.175)|OV - Ovarian serous cystadenocarcinoma(56;4.24e-37) TGGGGTTCAGGGGGGCCTCGG 0.647 10 38 --- --- --- --- THSD7A 221981 broad.mit.edu 37 7 11676141 11676141 + Missense_Mutation SNP C C T TCGA-VP-A875-01A-31D-A34U-08 TCGA-VP-A875-10A-01D-A34X-08 Untested Somatic Phase_I WXS none Illumina GAIIx b5f978ce-bc06-49da-99f3-b9064fdbe024 2e305204-80d3-4c7c-b416-3ceb01e18ae0 g.chr7:11676141C>T ENST00000423059.4 - 2 889 c.638G>A c.(637-639)gGg>gAg p.G213E NM_015204.2 NP_056019.1 Q9UPZ6 THS7A_HUMAN thrombospondin, type I, domain containing 7A TSP type-1 2. integral to membrane NS(1)|autonomic_ganglia(1)|breast(5)|cervix(1)|endometrium(8)|kidney(2)|large_intestine(7)|lung(68)|ovary(3)|pancreas(1)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(11) 113 UCEC - Uterine corpus endometrioid carcinoma (126;0.163) GTGCTGGAGCCCGCTGCCGCA 0.607 HNSCC(18;0.044) 23 19 --- --- --- --- KRIT1 889 broad.mit.edu 37 7 91830634 91830634 + Missense_Mutation SNP A A C TCGA-VP-A875-01A-31D-A34U-08 TCGA-VP-A875-10A-01D-A34X-08 Untested Somatic Phase_I WXS none Illumina GAIIx b5f978ce-bc06-49da-99f3-b9064fdbe024 2e305204-80d3-4c7c-b416-3ceb01e18ae0 g.chr7:91830634A>C ENST00000394507.1 - 19 2912 c.2129T>G c.(2128-2130)gTa>gGa p.V710G KRIT1_ENST00000412043.2_Missense_Mutation_p.V710G|KRIT1_ENST00000394505.2_Missense_Mutation_p.V710G|AC000120.7_ENST00000414227.1_RNA|KRIT1_ENST00000340022.2_Missense_Mutation_p.V710G|KRIT1_ENST00000394503.2_Missense_Mutation_p.V662G NM_194456.1 NP_919438.1 O00522 KRIT1_HUMAN KRIT1, ankyrin repeat containing 710 FERM.|Required for RAP1A binding. angiogenesis|cell redox homeostasis|negative regulation of angiogenesis|negative regulation of endothelial cell apoptosis|negative regulation of endothelial cell migration|negative regulation of endothelial cell proliferation|regulation of establishment of cell polarity|small GTPase mediated signal transduction cell-cell junction|cytoskeleton protein binding|small GTPase regulator activity p.V710E(1) autonomic_ganglia(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(9)|ovary(2)|stomach(1) 22 all_cancers(62;1.04e-09)|all_epithelial(64;5.75e-09)|Breast(17;0.00206)|all_lung(186;0.0509)|Lung NSC(181;0.0692) STAD - Stomach adenocarcinoma(171;6.16e-05)|Lung(22;0.123)|LUSC - Lung squamous cell carcinoma(200;0.225) TTTTGTATGTACTATAAAGCT 0.289 5 134 --- --- --- --- KMT2C 58508 broad.mit.edu 37 7 151884803 151884803 + Missense_Mutation SNP G G A TCGA-VP-A875-01A-31D-A34U-08 TCGA-VP-A875-10A-01D-A34X-08 Untested Somatic Phase_I WXS none Illumina GAIIx b5f978ce-bc06-49da-99f3-b9064fdbe024 2e305204-80d3-4c7c-b416-3ceb01e18ae0 g.chr7:151884803G>A ENST00000355193.2 - 32 5008 c.4790C>T c.(4789-4791)gCc>gTc p.A1597V KMT2C_ENST00000262189.6_Missense_Mutation_p.A1597V lysine (K)-specific methyltransferase 2C CTTGTACCTGGCATCAGGATA 0.368 4 73 --- --- --- --- VPS13B 157680 broad.mit.edu 37 8 100789020 100789020 + Missense_Mutation SNP G G C TCGA-VP-A875-01A-31D-A34U-08 TCGA-VP-A875-10A-01D-A34X-08 Untested Somatic Phase_I WXS none Illumina GAIIx b5f978ce-bc06-49da-99f3-b9064fdbe024 2e305204-80d3-4c7c-b416-3ceb01e18ae0 g.chr8:100789020G>C ENST00000358544.2 + 41 7451 c.7340G>C c.(7339-7341)gGt>gCt p.G2447A VPS13B_ENST00000357162.2_Missense_Mutation_p.G2422A|VPS13B_ENST00000395996.1_3'UTR NM_017890.4 NP_060360.3 Q7Z7G8 VP13B_HUMAN vacuolar protein sorting 13 homolog B (yeast) 2447 protein transport NS(1)|autonomic_ganglia(1)|breast(6)|central_nervous_system(4)|cervix(3)|endometrium(11)|haematopoietic_and_lymphoid_tissue(4)|kidney(10)|large_intestine(37)|lung(78)|ovary(8)|pancreas(3)|prostate(5)|skin(9)|upper_aerodigestive_tract(4)|urinary_tract(9) 193 Breast(36;3.73e-07) OV - Ovarian serous cystadenocarcinoma(57;0.00636) AGTGAGTCTGGTTCTCAAAGC 0.428 39 45 --- --- --- --- YME1L1 10730 broad.mit.edu 37 10 27436406 27436406 + Silent SNP T T C TCGA-VP-A875-01A-31D-A34U-08 TCGA-VP-A875-10A-01D-A34X-08 Untested Somatic Phase_I WXS none Illumina GAIIx b5f978ce-bc06-49da-99f3-b9064fdbe024 2e305204-80d3-4c7c-b416-3ceb01e18ae0 g.chr10:27436406T>C ENST00000477432.1 - 3 1415 c.360A>G c.(358-360)caA>caG p.Q120Q YME1L1_ENST00000375972.3_Intron|YME1L1_ENST00000326799.3_Intron|YME1L1_ENST00000376016.3_Intron Q96TA2 YMEL1_HUMAN YME1-like 1 ATPase 0 protein catabolic process|proteolysis membrane|mitochondrion ATP binding|metal ion binding|metalloendopeptidase activity|nucleoside-triphosphatase activity breast(1)|endometrium(2)|kidney(4)|large_intestine(6)|lung(6)|ovary(1)|skin(2)|upper_aerodigestive_tract(1) 23 CAATAGGCATTTGGAGAAACC 0.463 3 15 --- --- --- --- CPN1 1369 broad.mit.edu 37 10 101802208 101802208 + Silent SNP C C T TCGA-VP-A875-01A-31D-A34U-08 TCGA-VP-A875-10A-01D-A34X-08 Untested Somatic Phase_I WXS none Illumina GAIIx b5f978ce-bc06-49da-99f3-b9064fdbe024 2e305204-80d3-4c7c-b416-3ceb01e18ae0 g.chr10:101802208C>T ENST00000370418.3 - 9 1604 c.1353G>A c.(1351-1353)agG>agA p.R451R NM_001308.2 NP_001299.1 P15169 CBPN_HUMAN carboxypeptidase N, polypeptide 1 451 proteolysis extracellular space metallocarboxypeptidase activity|zinc ion binding breast(1)|central_nervous_system(3)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(9)|lung(14)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1) 33 Colorectal(252;0.234) Epithelial(162;4.77e-10)|all cancers(201;3.82e-08) TCTGCAGCTGCCTCATCTCCA 0.532 9 55 --- --- --- --- GPR84 53831 broad.mit.edu 37 12 54756711 54756711 + Missense_Mutation SNP C C A TCGA-VP-A875-01A-31D-A34U-08 TCGA-VP-A875-10A-01D-A34X-08 Untested Somatic Phase_I WXS none Illumina GAIIx b5f978ce-bc06-49da-99f3-b9064fdbe024 2e305204-80d3-4c7c-b416-3ceb01e18ae0 g.chr12:54756711C>A ENST00000551809.1 - 1 1560 c.925G>T c.(925-927)Gat>Tat p.D309Y RP11-753H16.5_ENST00000552785.1_RNA|GPR84_ENST00000267015.3_Missense_Mutation_p.D309Y|RP11-753H16.3_ENST00000550474.1_RNA Q9NQS5 GPR84_HUMAN G protein-coupled receptor 84 309 integral to membrane|plasma membrane G-protein coupled receptor activity NS(1)|breast(2)|kidney(2)|large_intestine(6)|lung(5)|skin(1)|urinary_tract(1) 18 GATGAAGAATCCGGAGCTCTT 0.498 19 94 --- --- --- --- COG3 83548 broad.mit.edu 37 13 46050413 46050413 + Silent SNP A A G TCGA-VP-A875-01A-31D-A34U-08 TCGA-VP-A875-10A-01D-A34X-08 Untested Somatic Phase_I WXS none Illumina GAIIx b5f978ce-bc06-49da-99f3-b9064fdbe024 2e305204-80d3-4c7c-b416-3ceb01e18ae0 g.chr13:46050413A>G ENST00000349995.5 + 2 364 c.252A>G c.(250-252)acA>acG p.T84T NM_031431.3 NP_113619 Q96JB2 COG3_HUMAN component of oligomeric golgi complex 3 84 ER to Golgi vesicle-mediated transport|intra-Golgi vesicle-mediated transport|intracellular protein transport|protein glycosylation|protein localization to organelle|protein stabilization|retrograde vesicle-mediated transport, Golgi to ER cis-Golgi network|Golgi cisterna membrane|Golgi transport complex protein binding|protein transporter activity breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(8)|prostate(2)|skin(2)|stomach(1) 24 Lung NSC(96;0.000145)|Breast(56;0.000596)|Prostate(109;0.00438)|Hepatocellular(98;0.0207)|Lung SC(185;0.0262) KIRC - Kidney renal clear cell carcinoma(16;0.234) GBM - Glioblastoma multiforme(144;0.000124) CTGAATCTACAGAAGACATTC 0.408 3 32 --- --- --- --- BTBD1 53339 broad.mit.edu 37 15 83710528 83710528 + Missense_Mutation SNP G G A TCGA-VP-A875-01A-31D-A34U-08 TCGA-VP-A875-10A-01D-A34X-08 Untested Somatic Phase_I WXS none Illumina GAIIx b5f978ce-bc06-49da-99f3-b9064fdbe024 2e305204-80d3-4c7c-b416-3ceb01e18ae0 g.chr15:83710528G>A ENST00000261721.4 - 4 1016 c.814C>T c.(814-816)Ctt>Ttt p.L272F BTBD1_ENST00000379403.2_Missense_Mutation_p.L272F|BTBD1_ENST00000560015.1_5'UTR|RP11-382A20.7_ENST00000570202.1_RNA|RP11-382A20.6_ENST00000568441.1_RNA|RP11-382A20.5_ENST00000566841.1_RNA NM_001011885.1|NM_025238.3 NP_001011885.1|NP_079514.1 Q9H0C5 BTBD1_HUMAN BTB (POZ) domain containing 1 272 cytoplasmic mRNA processing body|protein complex protein binding central_nervous_system(1)|endometrium(1)|large_intestine(4)|lung(2)|ovary(1)|prostate(1) 10 all cancers(203;0.000186) ATTAAGGAAAGTGCTTTTCCT 0.388 23 93 --- --- --- --- C16orf59 80178 broad.mit.edu 37 16 2512433 2512433 + Silent SNP C C T TCGA-VP-A875-01A-31D-A34U-08 TCGA-VP-A875-10A-01D-A34X-08 Untested Somatic Phase_I WXS none Illumina GAIIx b5f978ce-bc06-49da-99f3-b9064fdbe024 2e305204-80d3-4c7c-b416-3ceb01e18ae0 g.chr16:2512433C>T ENST00000569496.1 + 7 827 c.768C>T c.(766-768)ccC>ccT p.P256P C16orf59_ENST00000563531.1_Silent_p.P256P|C16orf59_ENST00000361837.4_Silent_p.P256P|C16orf59_ENST00000483320.1_Silent_p.P89P Q7L2K0 CP059_HUMAN chromosome 16 open reading frame 59 256 lung(1)|skin(1)|urinary_tract(1) 3 Ovarian(90;0.17) GGCCCCAGCCCAGGCTCAGTG 0.682 3 22 --- --- --- --- SF3B3 23450 broad.mit.edu 37 16 70569246 70569246 + Missense_Mutation SNP A A T TCGA-VP-A875-01A-31D-A34U-08 TCGA-VP-A875-10A-01D-A34X-08 Untested Somatic Phase_I WXS none Illumina GAIIx b5f978ce-bc06-49da-99f3-b9064fdbe024 2e305204-80d3-4c7c-b416-3ceb01e18ae0 g.chr16:70569246A>T ENST00000302516.5 + 6 959 c.748A>T c.(748-750)Atc>Ttc p.I250F NM_012426.4 NP_036558.3 Q15393 SF3B3_HUMAN splicing factor 3b, subunit 3, 130kDa 250 protein complex assembly catalytic step 2 spliceosome|nucleoplasm|small nuclear ribonucleoprotein complex|U12-type spliceosomal complex nucleic acid binding|protein binding breast(2)|endometrium(8)|kidney(2)|large_intestine(8)|liver(3)|lung(21)|ovary(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2) 53 Ovarian(137;0.0694) TGGAGTACTGATCTGCTCTGA 0.418 6 190 --- --- --- --- PER1 5187 broad.mit.edu 37 17 8045265 8045265 + Missense_Mutation SNP G G A TCGA-VP-A875-01A-31D-A34U-08 TCGA-VP-A875-10A-01D-A34X-08 Untested Somatic Phase_I WXS none Illumina GAIIx b5f978ce-bc06-49da-99f3-b9064fdbe024 2e305204-80d3-4c7c-b416-3ceb01e18ae0 g.chr17:8045265G>A ENST00000317276.4 - 22 3695 c.3458C>T c.(3457-3459)aCc>aTc p.T1153I PER1_ENST00000581082.1_Missense_Mutation_p.T1130I NM_002616.2 NP_002607.2 O15534 PER1_HUMAN period circadian clock 1 1153 CRY binding domain (By similarity). circadian rhythm|entrainment of circadian clock|negative regulation of transcription, DNA-dependent|transcription, DNA-dependent cytoplasm|nucleus signal transducer activity breast(4)|central_nervous_system(1)|endometrium(2)|kidney(7)|large_intestine(3)|lung(15)|ovary(4)|pancreas(1)|prostate(5)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 47 CAGCACAGAGGTCATGTCCCT 0.622 T ETV6 """AML, CMML""" Other conserved DNA damage response genes 5 40 --- --- --- --- AKAP1 8165 broad.mit.edu 37 17 55197639 55197639 + Missense_Mutation SNP A A G TCGA-VP-A875-01A-31D-A34U-08 TCGA-VP-A875-10A-01D-A34X-08 Untested Somatic Phase_I WXS none Illumina GAIIx b5f978ce-bc06-49da-99f3-b9064fdbe024 2e305204-80d3-4c7c-b416-3ceb01e18ae0 g.chr17:55197639A>G ENST00000337714.3 + 11 2899 c.2666A>G c.(2665-2667)gAg>gGg p.E889G AKAP1_ENST00000572557.1_Missense_Mutation_p.E889G|AKAP1_ENST00000539273.1_Missense_Mutation_p.E889G|AKAP1_ENST00000571629.1_Missense_Mutation_p.E889G NM_003488.3 NP_003479.1 Q92667 AKAP1_HUMAN A kinase (PRKA) anchor protein 1 889 blood coagulation cytosol|integral to membrane|mitochondrial outer membrane protein binding|RNA binding endometrium(2)|liver(1)|lung(7)|ovary(2)|pancreas(1)|skin(1) 14 Breast(9;5.46e-08) TCCCTGGTGGAGCGAGGCCTT 0.512 19 16 --- --- --- --- AFG3L2 10939 broad.mit.edu 37 18 12360038 12360038 + Missense_Mutation SNP A A G TCGA-VP-A875-01A-31D-A34U-08 TCGA-VP-A875-10A-01D-A34X-08 Untested Somatic Phase_I WXS none Illumina GAIIx b5f978ce-bc06-49da-99f3-b9064fdbe024 2e305204-80d3-4c7c-b416-3ceb01e18ae0 g.chr18:12360038A>G ENST00000269143.3 - 7 871 c.640T>C c.(640-642)Ttt>Ctt p.F214L NM_006796.2 NP_006787.2 Q9Y4W6 AFG32_HUMAN AFG3-like AAA ATPase 2 214 cell death|protein catabolic process|proteolysis integral to membrane ATP binding|metalloendopeptidase activity|nucleoside-triphosphatase activity|unfolded protein binding|zinc ion binding NS(1)|endometrium(1)|kidney(2)|large_intestine(3)|lung(12)|prostate(3)|skin(1)|stomach(3)|urinary_tract(1) 27 Adenosine triphosphate(DB00171) CCAATATTAAACCAAACGTAT 0.353 10 39 --- --- --- --- NAGA 4668 broad.mit.edu 37 22 42461779 42461779 + Missense_Mutation SNP G G A TCGA-VP-A875-01A-31D-A34U-08 TCGA-VP-A875-10A-01D-A34X-08 Untested Somatic Phase_I WXS none Illumina GAIIx b5f978ce-bc06-49da-99f3-b9064fdbe024 2e305204-80d3-4c7c-b416-3ceb01e18ae0 g.chr22:42461779G>A ENST00000396398.3 - 6 1254 c.722C>T c.(721-723)cCa>cTa p.P241L NAGA_ENST00000402937.1_Missense_Mutation_p.P241L|NAGA_ENST00000403363.1_Missense_Mutation_p.P241L NM_000262.2 NP_000253.1 P17050 NAGAB_HUMAN N-acetylgalactosaminidase, alpha- 241 glycoside catabolic process|glycosylceramide catabolic process|oligosaccharide metabolic process lysosome alpha-galactosidase activity|alpha-N-acetylgalactosaminidase activity|cation binding|protein homodimerization activity central_nervous_system(1)|endometrium(2)|large_intestine(2)|lung(5)|upper_aerodigestive_tract(1) 11 GCCGGCCACTGGCTGCAGTAT 0.597 4 37 --- --- --- ---