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 HMGCL 3155 broad.mit.edu 37 1 24130988 24130988 + Missense_Mutation SNP C C T TCGA-KK-A8IH-01A-11D-A364-08 TCGA-KK-A8IH-11A-11D-A362-08 Untested Somatic Phase_I WXS none Illumina GAIIx d1652a02-f1e2-4504-bc26-0bc6d272c104 9aec7505-e824-49cf-a520-b4d090863d67 g.chr1:24130988C>T ENST00000374483.4 - 9 1374 c.703G>A c.(703-705)Gtg>Atg p.V235M HMGCL_ENST00000374490.3_Missense_Mutation_p.V260M|HMGCL_ENST00000509389.1_5'UTR|HMGCL_ENST00000436439.2_Missense_Mutation_p.V189M P35914 HMGCL_HUMAN 3-hydroxymethyl-3-methylglutaryl-CoA lyase 260 acetoacetic acid biosynthetic process|ketone body biosynthetic process mitochondrial matrix hydroxymethylglutaryl-CoA lyase activity|metal ion binding central_nervous_system(1)|endometrium(2)|large_intestine(2)|lung(3)|ovary(1)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1) 12 Colorectal(325;3.46e-05)|Renal(390;0.000219)|Lung NSC(340;0.000233)|all_lung(284;0.000321)|Ovarian(437;0.00348)|Breast(348;0.0044)|Myeloproliferative disorder(586;0.0255) UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|OV - Ovarian serous cystadenocarcinoma(117;2.38e-24)|Colorectal(126;5.58e-08)|COAD - Colon adenocarcinoma(152;3.12e-06)|GBM - Glioblastoma multiforme(114;4.9e-06)|BRCA - Breast invasive adenocarcinoma(304;0.000982)|KIRC - Kidney renal clear cell carcinoma(1967;0.0034)|STAD - Stomach adenocarcinoma(196;0.0128)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.0856)|LUSC - Lung squamous cell carcinoma(448;0.188) AGTCCTGCCACAGAAGAGTCC 0.537 15 44 --- --- --- --- KCNK2 3776 broad.mit.edu 37 1 215408426 215408426 + Missense_Mutation SNP C C A TCGA-KK-A8IH-01A-11D-A364-08 TCGA-KK-A8IH-11A-11D-A362-08 Untested Somatic Phase_I WXS none Illumina GAIIx d1652a02-f1e2-4504-bc26-0bc6d272c104 9aec7505-e824-49cf-a520-b4d090863d67 g.chr1:215408426C>A ENST00000444842.2 + 7 1369 c.1219C>A c.(1219-1221)Ctg>Atg p.L407M KCNK2_ENST00000391894.2_Missense_Mutation_p.L392M|KCNK2_ENST00000391895.2_Missense_Mutation_p.L403M NM_001017425.2|NM_014217.3 NP_001017425.2|NP_055032.1 O95069 KCNK2_HUMAN potassium channel, subfamily K, member 2 407 Essential for chloroform and halothane sensitivity (By similarity).|Required for basal channel activity (By similarity). outward rectifier potassium channel activity endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(15)|upper_aerodigestive_tract(1) 30 OV - Ovarian serous cystadenocarcinoma(81;0.0399)|all cancers(67;0.0556)|GBM - Glioblastoma multiforme(131;0.068) Dofetilide(DB00204) GAGTATCTATCTGAATGGTTT 0.478 10 68 --- --- --- --- PIK3CB 5291 broad.mit.edu 37 3 138376590 138376590 + Missense_Mutation SNP A A T TCGA-KK-A8IH-01A-11D-A364-08 TCGA-KK-A8IH-11A-11D-A362-08 Untested Somatic Phase_I WXS none Illumina GAIIx d1652a02-f1e2-4504-bc26-0bc6d272c104 9aec7505-e824-49cf-a520-b4d090863d67 g.chr3:138376590A>T ENST00000477593.1 - 21 2957 c.2884T>A c.(2884-2886)Tat>Aat p.Y962N PIK3CB_ENST00000289153.2_Missense_Mutation_p.Y962N|PIK3CB_ENST00000544716.1_Missense_Mutation_p.Y413N P42338 PK3CB_HUMAN phosphatidylinositol-4,5-bisphosphate 3-kinase, catalytic subunit beta 962 PI3K/PI4K. activation of MAPK activity|chemotaxis|fibroblast growth factor receptor signaling pathway|G-protein coupled receptor protein signaling pathway|insulin receptor signaling pathway|leukocyte migration|nerve growth factor receptor signaling pathway|phosphatidylinositol-mediated signaling|platelet activation|T cell receptor signaling pathway phosphatidylinositol 3-kinase complex 1-phosphatidylinositol-3-kinase activity|ATP binding|phosphatidylinositol-4,5-bisphosphate 3-kinase activity NS(1)|breast(3)|endometrium(5)|kidney(2)|large_intestine(4)|lung(17)|ovary(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(4) 41 ATGAAATCATAGGTAAGAATA 0.383 4 37 --- --- --- --- FAM13A 10144 broad.mit.edu 37 4 89668954 89668954 + Missense_Mutation SNP T T C TCGA-KK-A8IH-01A-11D-A364-08 TCGA-KK-A8IH-11A-11D-A362-08 Untested Somatic Phase_I WXS none Illumina GAIIx d1652a02-f1e2-4504-bc26-0bc6d272c104 9aec7505-e824-49cf-a520-b4d090863d67 g.chr4:89668954T>C ENST00000264344.5 - 18 2417 c.2210A>G c.(2209-2211)cAg>cGg p.Q737R FAM13A_ENST00000513837.1_Missense_Mutation_p.Q383R|FAM13A_ENST00000508369.1_Missense_Mutation_p.Q411R|FAM13A_ENST00000395002.2_Missense_Mutation_p.Q411R|FAM13A_ENST00000511976.1_Missense_Mutation_p.Q323R|FAM13A_ENST00000503556.1_Missense_Mutation_p.Q397R NM_014883.3 NP_055698.2 O94988 FA13A_HUMAN family with sequence similarity 13, member A 737 regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction cytosol GTPase activator activity NS(1)|breast(2)|central_nervous_system(2)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(11)|liver(1)|lung(22)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(2) 55 GTTGCTTCGCTGCCGCATCCT 0.393 17 69 --- --- --- --- MARCH1 55016 broad.mit.edu 37 4 164534558 164534558 + Missense_Mutation SNP G G C TCGA-KK-A8IH-01A-11D-A364-08 TCGA-KK-A8IH-11A-11D-A362-08 Untested Somatic Phase_I WXS none Illumina GAIIx d1652a02-f1e2-4504-bc26-0bc6d272c104 9aec7505-e824-49cf-a520-b4d090863d67 g.chr4:164534558G>C ENST00000339875.5 - 1 128 c.99C>G c.(97-99)aaC>aaG p.N33K MARCH1_ENST00000503008.1_Intron|MARCH1_ENST00000274056.7_Intron|MARCH1_ENST00000514618.1_Intron NM_017923.3 NP_060393.1 Q8TCQ1 MARH1_HUMAN membrane-associated ring finger (C3HC4) 1, E3 ubiquitin protein ligase 50 Responsible for low stability (By similarity). antigen processing and presentation of peptide antigen via MHC class II|immune response cytoplasmic vesicle membrane|early endosome membrane|Golgi apparatus|integral to membrane|late endosome membrane|lysosomal membrane|plasma membrane MHC protein binding|ubiquitin-protein ligase activity|zinc ion binding endometrium(2)|kidney(3)|large_intestine(3)|lung(20)|prostate(3)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2) 36 all_hematologic(180;0.166) Prostate(90;0.0959)|all_neural(102;0.223) GGAGAAACAAGTTAGATAATT 0.438 17 36 --- --- --- --- KCNK5 8645 broad.mit.edu 37 6 39159466 39159466 + Missense_Mutation SNP C C T TCGA-KK-A8IH-01A-11D-A364-08 TCGA-KK-A8IH-11A-11D-A362-08 Untested Somatic Phase_I WXS none Illumina GAIIx d1652a02-f1e2-4504-bc26-0bc6d272c104 9aec7505-e824-49cf-a520-b4d090863d67 g.chr6:39159466C>T ENST00000359534.3 - 5 1038 c.700G>A c.(700-702)Ggg>Agg p.G234R NM_003740.3 NP_003731.1 O95279 KCNK5_HUMAN potassium channel, subfamily K, member 5 234 excretion integral to plasma membrane potassium channel activity|voltage-gated ion channel activity central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(6)|lung(4)|skin(3) 19 CAGGCCAGCCCCAAGTAGATC 0.577 17 62 --- --- --- --- MTMR7 9108 broad.mit.edu 37 8 17188685 17188685 + Missense_Mutation SNP C C T TCGA-KK-A8IH-01A-11D-A364-08 TCGA-KK-A8IH-11A-11D-A362-08 Untested Somatic Phase_I WXS none Illumina GAIIx d1652a02-f1e2-4504-bc26-0bc6d272c104 9aec7505-e824-49cf-a520-b4d090863d67 g.chr8:17188685C>T ENST00000180173.5 - 7 873 c.839G>A c.(838-840)aGg>aAg p.R280K MTMR7_ENST00000521857.1_Missense_Mutation_p.R280K NM_004686.4 NP_004677.3 Q9Y216 MTMR7_HUMAN myotubularin related protein 7 280 Myotubularin phosphatase. protein tyrosine phosphatase activity breast(1)|endometrium(5)|kidney(2)|large_intestine(5)|liver(1)|lung(8)|prostate(3)|skin(5)|stomach(1)|upper_aerodigestive_tract(1) 32 Colorectal(111;0.112) CAGACTGTTCCTCATGACATG 0.383 7 45 --- --- --- --- BAI1 575 broad.mit.edu 37 8 143565394 143565394 + Silent SNP G G A TCGA-KK-A8IH-01A-11D-A364-08 TCGA-KK-A8IH-11A-11D-A362-08 Untested Somatic Phase_I WXS none Illumina GAIIx d1652a02-f1e2-4504-bc26-0bc6d272c104 9aec7505-e824-49cf-a520-b4d090863d67 g.chr8:143565394G>A ENST00000517894.1 + 12 3081 c.2187G>A c.(2185-2187)gaG>gaA p.E729E BAI1_ENST00000323289.5_Silent_p.E729E O14514 BAI1_HUMAN brain-specific angiogenesis inhibitor 1 729 axonogenesis|cell adhesion|negative regulation of angiogenesis|negative regulation of cell proliferation|neuropeptide signaling pathway|peripheral nervous system development cell-cell junction|integral to plasma membrane G-protein coupled receptor activity|protein binding NS(1)|breast(3)|central_nervous_system(2)|cervix(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(2)|lung(28)|ovary(4)|pancreas(1)|prostate(7) 57 all_cancers(97;2.84e-12)|all_epithelial(106;5.91e-09)|Lung NSC(106;0.000322)|all_lung(105;0.000616)|Medulloblastoma(13;0.00276)|all_neural(13;0.00559)|Ovarian(258;0.0315)|Acute lymphoblastic leukemia(118;0.155) ACAAGTGGGAGGAGGCCCAGC 0.622 5 95 --- --- --- --- TTC18 118491 broad.mit.edu 37 10 75029417 75029417 + Missense_Mutation SNP G G C TCGA-KK-A8IH-01A-11D-A364-08 TCGA-KK-A8IH-11A-11D-A362-08 Untested Somatic Phase_I WXS none Illumina GAIIx d1652a02-f1e2-4504-bc26-0bc6d272c104 9aec7505-e824-49cf-a520-b4d090863d67 g.chr10:75029417G>C ENST00000310715.3 - 26 3312 c.3192C>G c.(3190-3192)aaC>aaG p.N1064K TTC18_ENST00000493787.1_Intron|TTC18_ENST00000394865.1_Missense_Mutation_p.N1034K|TTC18_ENST00000340329.3_Missense_Mutation_p.N304K|DNAJC9-AS1_ENST00000440197.2_RNA|TTC18_ENST00000401621.2_Missense_Mutation_p.N1064K|TTC18_ENST00000355577.3_Missense_Mutation_p.N533K NM_145170.3 NP_660153.3 Q5T0N1 TTC18_HUMAN tetratricopeptide repeat domain 18 1064 binding breast(1)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(6)|lung(13)|ovary(2)|prostate(2)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(1) 34 Prostate(51;0.0119) CAGCATTGTAGTTGTTCAATG 0.463 5 37 --- --- --- --- SNX19 399979 broad.mit.edu 37 11 130775905 130775905 + Missense_Mutation SNP C C T TCGA-KK-A8IH-01A-11D-A364-08 TCGA-KK-A8IH-11A-11D-A362-08 Untested Somatic Phase_I WXS none Illumina GAIIx d1652a02-f1e2-4504-bc26-0bc6d272c104 9aec7505-e824-49cf-a520-b4d090863d67 g.chr11:130775905C>T ENST00000265909.4 - 7 2955 c.2386G>A c.(2386-2388)Gac>Aac p.D796N SNX19_ENST00000539184.1_Missense_Mutation_p.D239N|SNX19_ENST00000534726.1_Missense_Mutation_p.D36N|SNX19_ENST00000528555.1_Missense_Mutation_p.D176N|SNX19_ENST00000533318.1_5'UTR|SNX19_ENST00000545537.1_Missense_Mutation_p.D36N|SNX19_ENST00000533214.1_Missense_Mutation_p.D779N|SNX19_ENST00000530356.1_Missense_Mutation_p.D176N NM_014758.2 NP_055573 Q92543 SNX19_HUMAN sorting nexin 19 796 cell communication|protein transport cytoplasmic vesicle membrane phosphatidylinositol binding|protein binding central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(8)|ovary(3)|prostate(1)|skin(6)|urinary_tract(1) 35 all_hematologic(175;0.0597) Lung NSC(97;0.000272)|all_lung(97;0.000608)|Breast(109;0.000962)|all_neural(223;0.0298)|Medulloblastoma(222;0.0425) OV - Ovarian serous cystadenocarcinoma(99;0.0195)|Lung(977;0.233) ACGCAACTGTCCACACGTCCT 0.527 9 40 --- --- --- --- GUCY2C 2984 broad.mit.edu 37 12 14766078 14766078 + Silent SNP G G A TCGA-KK-A8IH-01A-11D-A364-08 TCGA-KK-A8IH-11A-11D-A362-08 Untested Somatic Phase_I WXS none Illumina GAIIx d1652a02-f1e2-4504-bc26-0bc6d272c104 9aec7505-e824-49cf-a520-b4d090863d67 g.chr12:14766078G>A ENST00000261170.3 - 27 3331 c.3195C>T c.(3193-3195)acC>acT p.T1065T RP11-695J4.2_ENST00000542401.1_RNA|RP11-695J4.2_ENST00000545424.1_RNA NM_004963.3 NP_004954.2 P25092 GUC2C_HUMAN guanylate cyclase 2C (heat stable enterotoxin receptor) 1065 intracellular signal transduction|receptor guanylyl cyclase signaling pathway integral to membrane ATP binding|GTP binding|guanylate cyclase activity|protein binding|protein kinase activity|receptor activity p.T1065T(1) breast(3)|endometrium(7)|kidney(3)|large_intestine(9)|lung(17)|ovary(4)|skin(7)|urinary_tract(1) 51 CCTTGTCTGTGGTATTCAGCT 0.438 58 98 --- --- --- --- PRKAB1 5564 broad.mit.edu 37 12 120110138 120110138 + Silent SNP G G A TCGA-KK-A8IH-01A-11D-A364-08 TCGA-KK-A8IH-11A-11D-A362-08 Untested Somatic Phase_I WXS none Illumina GAIIx d1652a02-f1e2-4504-bc26-0bc6d272c104 9aec7505-e824-49cf-a520-b4d090863d67 g.chr12:120110138G>A ENST00000229328.5 + 2 684 c.192G>A c.(190-192)caG>caA p.Q64Q PRKAB1_ENST00000540121.1_5'UTR|PRKAB1_ENST00000541640.1_Silent_p.Q64Q NM_006253.4 NP_006244.2 Q9Y478 AAKB1_HUMAN protein kinase, AMP-activated, beta 1 non-catalytic subunit 64 cell cycle arrest|fatty acid biosynthetic process|insulin receptor signaling pathway|regulation of fatty acid oxidation cytosol endometrium(2)|large_intestine(3)|lung(5) 10 all_neural(191;0.0804)|Medulloblastoma(191;0.0922) BRCA - Breast invasive adenocarcinoma(302;0.166) Adenosine monophosphate(DB00131)|Metformin(DB00331) TGGCCTGGCAGCATGATCTGG 0.512 4 121 --- --- --- --- CIT 11113 broad.mit.edu 37 12 120214536 120214536 + Silent SNP A A C TCGA-KK-A8IH-01A-11D-A364-08 TCGA-KK-A8IH-11A-11D-A362-08 Untested Somatic Phase_I WXS none Illumina GAIIx d1652a02-f1e2-4504-bc26-0bc6d272c104 9aec7505-e824-49cf-a520-b4d090863d67 g.chr12:120214536A>C ENST00000392521.2 - 14 1831 c.1776T>G c.(1774-1776)tcT>tcG p.S592S CIT_ENST00000537607.1_5'UTR|CIT_ENST00000261833.7_Silent_p.S592S NM_001206999.1 NP_001193928.1 O14578 CTRO_HUMAN citron (rho-interacting, serine/threonine kinase 21) 592 intracellular signal transduction ATP binding|metal ion binding|protein serine/threonine kinase activity|SH3 domain binding|small GTPase regulator activity breast(6)|endometrium(9)|kidney(4)|large_intestine(15)|liver(1)|lung(29)|ovary(7)|prostate(4)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(6) 86 all_neural(191;0.0804)|Medulloblastoma(191;0.0922) Myeloproliferative disorder(1001;0.0255) BRCA - Breast invasive adenocarcinoma(302;0.211) CAGCAAGCCGAGACTCTCTCA 0.468 7 73 --- --- --- --- CES1 1066 broad.mit.edu 37 16 55866955 55866955 + Missense_Mutation SNP C C A TCGA-KK-A8IH-01A-11D-A364-08 TCGA-KK-A8IH-11A-11D-A362-08 Untested Somatic Phase_I WXS none Illumina GAIIx d1652a02-f1e2-4504-bc26-0bc6d272c104 9aec7505-e824-49cf-a520-b4d090863d67 g.chr16:55866955C>A ENST00000422046.2 - 1 294 c.13G>T c.(13-15)Gcc>Tcc p.A5S CES1_ENST00000360526.3_Missense_Mutation_p.A5S|CES1_ENST00000361503.4_Missense_Mutation_p.A5S P23141 EST1_HUMAN carboxylesterase 1 5 RAFI -> PALV (in Ref. 3; BAA04650, 8; BAC87749/BAC87751, 9; BAF83312/BAF84898 and 11; AAH12418). response to toxin endoplasmic reticulum lumen carboxylesterase activity|methyl indole-3-acetate esterase activity|methyl jasmonate esterase activity|methyl salicylate esterase activity all cancers(182;0.13)|Epithelial(162;0.137) Aminoglutethimide(DB00357)|Bezafibrate(DB01393)|Cholestyramine(DB01432)|Moexipril(DB00691) AGGATAAAGGCACGGAGCCAC 0.602 5 11 --- --- --- --- GOT2 2806 broad.mit.edu 37 16 58752108 58752108 + Missense_Mutation SNP C C T TCGA-KK-A8IH-01A-11D-A364-08 TCGA-KK-A8IH-11A-11D-A362-08 Untested Somatic Phase_I WXS none Illumina GAIIx d1652a02-f1e2-4504-bc26-0bc6d272c104 9aec7505-e824-49cf-a520-b4d090863d67 g.chr16:58752108C>T ENST00000245206.5 - 6 822 c.694G>A c.(694-696)Gtg>Atg p.V232M GOT2_ENST00000564400.1_5'UTR|GOT2_ENST00000434819.2_Missense_Mutation_p.V189M NM_002080.2 NP_002071.2 P00505 AATM_HUMAN glutamic-oxaloacetic transaminase 2, mitochondrial 232 aspartate catabolic process|fatty acid transport|gluconeogenesis|response to ethanol mitochondrial matrix|plasma membrane L-aspartate:2-oxoglutarate aminotransferase activity|protein binding|pyridoxal phosphate binding breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(2)|lung(8)|prostate(2)|skin(1) 22 L-Aspartic Acid(DB00128)|L-Glutamic Acid(DB00142)|Pyridoxal Phosphate(DB00114) ACCTTCACCACTGTTGCTATT 0.498 9 55 --- --- --- --- TRIM37 4591 broad.mit.edu 37 17 57140009 57140009 + Splice_Site SNP G G C TCGA-KK-A8IH-01A-11D-A364-08 TCGA-KK-A8IH-11A-11D-A362-08 Untested Somatic Phase_I WXS none Illumina GAIIx d1652a02-f1e2-4504-bc26-0bc6d272c104 9aec7505-e824-49cf-a520-b4d090863d67 g.chr17:57140009G>C ENST00000376149.3 - 11 1304 c.495C>G c.(493-495)agC>agG p.S165R TRIM37_ENST00000262294.7_Splice_Site_p.S287R|TRIM37_ENST00000393066.3_Splice_Site_p.S287R|TRIM37_ENST00000393065.2_Splice_Site_p.S253R O94972 TRI37_HUMAN tripartite motif containing 37 287 perinuclear region of cytoplasm|peroxisome ligase activity|protein binding|zinc ion binding breast(1)|endometrium(3)|kidney(3)|large_intestine(10)|lung(13)|ovary(1)|pancreas(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2) 37 Medulloblastoma(34;0.0922)|all_neural(34;0.101) GACGCAAAGTGCTAACGAAAA 0.383 Mulibrey Nanism 3 19 --- --- --- --- BIRC5 332 broad.mit.edu 37 17 76212836 76212836 + Missense_Mutation SNP G G T TCGA-KK-A8IH-01A-11D-A364-08 TCGA-KK-A8IH-11A-11D-A362-08 Untested Somatic Phase_I WXS none Illumina GAIIx d1652a02-f1e2-4504-bc26-0bc6d272c104 9aec7505-e824-49cf-a520-b4d090863d67 g.chr17:76212836G>T ENST00000301633.4 + 4 513 c.382G>T c.(382-384)Gac>Tac p.D128Y AC087645.1_ENST00000600484.1_Missense_Mutation_p.S254Y|BIRC5_ENST00000592734.1_Intron|BIRC5_ENST00000350051.3_Missense_Mutation_p.D105Y|BIRC5_ENST00000374948.2_Intron|BIRC5_ENST00000589892.1_3'UTR NM_001012271.1 NP_001012271.1 O15392 BIRC5_HUMAN baculoviral IAP repeat containing 5 105 A -> V (in Ref. 9; CAG46540). anti-apoptosis|apoptosis|cell division|chromosome segregation|cytokinesis|establishment of chromosome localization|G2/M transition of mitotic cell cycle|mitosis|mitotic prometaphase|positive regulation of exit from mitosis|positive regulation of mitotic cell cycle|protein complex localization|spindle checkpoint centriole|chromosome passenger complex|chromosome, centromeric region|cytoplasm|cytoplasmic microtubule|cytosol|interphase microtubule organizing center|midbody|nuclear chromosome|spindle|spindle microtubule caspase inhibitor activity|chaperone binding|cobalt ion binding|cofactor binding|cysteine-type endopeptidase inhibitor activity|metal ion binding|microtubule binding|protein heterodimerization activity|protein homodimerization activity|Ran GTPase binding|zinc ion binding kidney(1)|urinary_tract(1) 2 BRCA - Breast invasive adenocarcinoma(99;0.00269)|OV - Ovarian serous cystadenocarcinoma(97;0.153) TTTGAAACTGGACAGAGAAAG 0.388 19 40 --- --- --- --- SIGLEC12 89858 broad.mit.edu 37 19 52001535 52001535 + Missense_Mutation SNP G G T TCGA-KK-A8IH-01A-11D-A364-08 TCGA-KK-A8IH-11A-11D-A362-08 Untested Somatic Phase_I WXS none Illumina GAIIx d1652a02-f1e2-4504-bc26-0bc6d272c104 9aec7505-e824-49cf-a520-b4d090863d67 g.chr19:52001535G>T ENST00000291707.3 - 5 1197 c.1142C>A c.(1141-1143)aCa>aAa p.T381K SIGLEC12_ENST00000598614.1_Missense_Mutation_p.T263K NM_053003.2 NP_443729.1 Q96PQ1 SIG12_HUMAN sialic acid binding Ig-like lectin 12 (gene/pseudogene) 381 Ig-like C2-type 2. cell adhesion integral to membrane sugar binding NS(2)|biliary_tract(1)|breast(1)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(8)|liver(1)|lung(23)|ovary(4)|prostate(2)|skin(8)|stomach(3)|upper_aerodigestive_tract(2) 61 all_neural(266;0.0199) GBM - Glioblastoma multiforme(134;0.00161)|OV - Ovarian serous cystadenocarcinoma(262;0.0102) CCTCAAGGTTGTGGATGCTGT 0.557 5 1 --- --- --- --- IL3RA 3563 broad.mit.edu 37 X 1499970 1499970 + Silent SNP C C T TCGA-KK-A8IH-01A-11D-A364-08 TCGA-KK-A8IH-11A-11D-A362-08 Untested Somatic Phase_I WXS none Illumina GAIIx d1652a02-f1e2-4504-bc26-0bc6d272c104 9aec7505-e824-49cf-a520-b4d090863d67 g.chrX:1499970C>T ENST00000331035.4 + 11 1384 c.1035C>T c.(1033-1035)atC>atT p.I345I IL3RA_ENST00000381469.2_Silent_p.I267I NM_001267713.1|NM_002183.3 NP_001254642.1|NP_002174.1 P26951 IL3RA_HUMAN interleukin 3 receptor, alpha (low affinity) 345 integral to membrane|plasma membrane interleukin-3 receptor activity lung(1)|skin(2) 3 all_cancers(21;4.28e-07)|all_epithelial(21;2.07e-08)|all_lung(23;2.81e-05)|Lung NSC(23;0.000693)|Lung SC(21;0.122) Sargramostim(DB00020) AAGACCCCATCGGTGACAGCT 0.567 89 159 --- --- --- --- KLHL15 80311 broad.mit.edu 37 X 24007025 24007025 + Silent SNP A A G TCGA-KK-A8IH-01A-11D-A364-08 TCGA-KK-A8IH-11A-11D-A362-08 Untested Somatic Phase_I WXS none Illumina GAIIx d1652a02-f1e2-4504-bc26-0bc6d272c104 9aec7505-e824-49cf-a520-b4d090863d67 g.chrX:24007025A>G ENST00000328046.8 - 4 1083 c.828T>C c.(826-828)cgT>cgC p.R276R NM_030624.2 NP_085127.2 Q96M94 KLH15_HUMAN kelch-like family member 15 276 autonomic_ganglia(1)|breast(1)|endometrium(8)|kidney(2)|large_intestine(3)|lung(6)|ovary(1) 22 GTTTTGCAGAACGGATGCGGC 0.433 5 86 --- --- --- --- CAMKMT 79823 broad.mit.edu 37 2 44599960 44599960 + Frame_Shift_Del DEL G G - TCGA-KK-A8IH-01A-11D-A364-08 TCGA-KK-A8IH-11A-11D-A362-08 Untested Somatic Phase_I WXS none Illumina GAIIx d1652a02-f1e2-4504-bc26-0bc6d272c104 9aec7505-e824-49cf-a520-b4d090863d67 g.chr2:44599960delG ENST00000378494.3 + 2 288 c.244delG c.(244-246)gaafs p.E84fs CAMKMT_ENST00000402247.1_Frame_Shift_Del_p.E84fs|CAMKMT_ENST00000477623.1_3'UTR|CAMKMT_ENST00000403853.3_Frame_Shift_Del_p.E84fs|CAMKMT_ENST00000407131.1_Frame_Shift_Del_p.E84fs NM_024766.4 NP_079042.1 Q7Z624 CMKMT_HUMAN calmodulin-lysine N-methyltransferase 84 cytoplasm calmodulin-lysine N-methyltransferase activity breast(2)|large_intestine(3)|lung(5) 10 AAGGGAAACTGAAGAGGAGGT 0.373 20 30 --- --- --- --- BAZ2B 29994 broad.mit.edu 37 2 160285752 160285754 + In_Frame_Del DEL TCT TCT - TCGA-KK-A8IH-01A-11D-A364-08 TCGA-KK-A8IH-11A-11D-A362-08 Untested Somatic Phase_I WXS none Illumina GAIIx d1652a02-f1e2-4504-bc26-0bc6d272c104 9aec7505-e824-49cf-a520-b4d090863d67 g.chr2:160285752_160285754delTCT ENST00000392783.2 - 11 2707_2709 c.2212_2214delAGA c.(2212-2214)agadel p.R738del BAZ2B_ENST00000355831.2_In_Frame_Del_p.R738del|BAZ2B_ENST00000343439.5_In_Frame_Del_p.R638del|BAZ2B_ENST00000392782.1_In_Frame_Del_p.R736del NM_013450.2 NP_038478.2 Q9UIF8 BAZ2B_HUMAN bromodomain adjacent to zinc finger domain, 2B 738 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|protein binding|zinc ion binding NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(11)|large_intestine(7)|liver(2)|lung(41)|ovary(3)|prostate(1)|skin(2)|soft_tissue(1)|urinary_tract(1) 82 CATCTGTTACTCTTCTTCTTTTG 0.266 9 35 --- --- --- --- CYP2W1 54905 broad.mit.edu 37 7 1027017 1027017 + Frame_Shift_Del DEL C C - TCGA-KK-A8IH-01A-11D-A364-08 TCGA-KK-A8IH-11A-11D-A362-08 Untested Somatic Phase_I WXS none Illumina GAIIx d1652a02-f1e2-4504-bc26-0bc6d272c104 9aec7505-e824-49cf-a520-b4d090863d67 g.chr7:1027017delC ENST00000340150.6 + 7 847 c.825delC c.(823-825)ggcfs p.G275fs CYP2W1_ENST00000308919.7_Frame_Shift_Del_p.G331fs Q8TAV3 CP2W1_HUMAN cytochrome P450, family 2, subfamily W, polypeptide 1 331 xenobiotic metabolic process endoplasmic reticulum membrane electron carrier activity|heme binding|monooxygenase activity|oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen breast(1)|large_intestine(1)|lung(4)|urinary_tract(1) 7 Ovarian(82;0.0112) UCEC - Uterine corpus endometrioid carcinoma (27;0.0178)|OV - Ovarian serous cystadenocarcinoma(56;1.74e-15) GCGTGCTGGGCCCTGGGCGGA 0.731 2 4 --- --- --- --- VAPA 9218 broad.mit.edu 37 18 9954142 9954143 + Frame_Shift_Del DEL TC TC - TCGA-KK-A8IH-01A-11D-A364-08 TCGA-KK-A8IH-11A-11D-A362-08 Untested Somatic Phase_I WXS none Illumina GAIIx d1652a02-f1e2-4504-bc26-0bc6d272c104 9aec7505-e824-49cf-a520-b4d090863d67 g.chr18:9954142_9954143delTC ENST00000400000.2 + 6 939_940 c.684_685delTC c.(682-687)cttcctfs p.P229fs VAPA_ENST00000340541.4_Frame_Shift_Del_p.P274fs NM_003574.5|NM_194434.2 NP_003565.4|NP_919415.2 Q9P0L0 VAPA_HUMAN VAMP (vesicle-associated membrane protein)-associated protein A, 33kDa 229 cell death|cellular membrane fusion|neuron projection development|positive regulation of I-kappaB kinase/NF-kappaB cascade|protein localization in endoplasmic reticulum|sphingolipid metabolic process endoplasmic reticulum membrane|integral to membrane|plasma membrane|vesicle protein heterodimerization activity|signal transducer activity|structural molecule activity breast(1)|lung(2)|prostate(1) 4 CCAGTCCTCTTCCTTCACTTCT 0.391 11 97 --- --- --- --- MCM8 84515 broad.mit.edu 37 20 5965634 5965639 + In_Frame_Del DEL AGAAAG AGAAAG - TCGA-KK-A8IH-01A-11D-A364-08 TCGA-KK-A8IH-11A-11D-A362-08 Untested Somatic Phase_I WXS none Illumina GAIIx d1652a02-f1e2-4504-bc26-0bc6d272c104 9aec7505-e824-49cf-a520-b4d090863d67 g.chr20:5965634_5965639delAGAAAG ENST00000378896.3 + 15 2318_2323 c.1941_1946delAGAAAG c.(1939-1947)tcagaaaga>tca p.ER648del MCM8_ENST00000378886.2_In_Frame_Del_p.ER688del|MCM8_ENST00000378883.1_In_Frame_Del_p.ER601del|MCM8_ENST00000265187.4_In_Frame_Del_p.ER632del NM_001281520.1|NM_032485.4|NM_182802.1 NP_001268449.1|NP_115874.3|NP_877954.1 Q9UJA3 MCM8_HUMAN minichromosome maintenance complex component 8 648 cell cycle checkpoint|DNA strand elongation involved in DNA replication|G1/S transition of mitotic cell cycle|M/G1 transition of mitotic cell cycle|regulation of transcription, DNA-dependent|S phase of mitotic cell cycle|transcription, DNA-dependent nucleoplasm ATP binding|DNA binding|nucleoside-triphosphatase activity cervix(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(9)|prostate(2)|skin(3)|upper_aerodigestive_tract(2) 23 AGCCATTATCAGAAAGACTAAAGGTA 0.374 9 26 --- --- --- ---