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 MAP3K1 4214 broad.mit.edu 37 5 56168713 56168713 + Missense_Mutation SNP G G A TCGA-YL-A8SI-01A-11D-A41K-08 TCGA-YL-A8SI-10A-01D-A41N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0b05122e-49c2-470c-94e2-c5d5199dfa3e 61a6c1de-8124-49df-af36-5bfb52d1b004 g.chr5:56168713G>A ENST00000399503.3 + 9 1567 c.1567G>A c.(1567-1569)Gta>Ata p.V523I NM_005921.1 NP_005912.1 Q13233 M3K1_HUMAN mitogen-activated protein kinase kinase kinase 1, E3 ubiquitin protein ligase 523 cellular response to mechanical stimulus|innate immune response|MyD88-dependent toll-like receptor signaling pathway|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 4 signaling pathway cytosol ATP binding|zinc ion binding NS(1)|breast(19)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(8)|lung(11)|ovary(1)|skin(3)|urinary_tract(1) 57 Lung NSC(810;4.65e-05)|Prostate(74;0.0132)|Breast(144;0.0321)|Ovarian(174;0.223) OV - Ovarian serous cystadenocarcinoma(10;6.08e-40) GCAGCAAACCGTACAGCAGCA 0.413000 3 34 0 0 1 0 0 PPP4R1 9989 broad.mit.edu 37 18 9577161 9577161 + Missense_Mutation SNP C C A TCGA-YL-A8SI-01A-11D-A41K-08 TCGA-YL-A8SI-10A-01D-A41N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0b05122e-49c2-470c-94e2-c5d5199dfa3e 61a6c1de-8124-49df-af36-5bfb52d1b004 g.chr18:9577161C>A ENST00000400556.3 - 10 1020 c.947G>T c.(946-948)gGa>gTa p.G316V PPP4R1_ENST00000580583.1_5'UTR|PPP4R1_ENST00000400555.3_Missense_Mutation_p.G299V NM_001042388.2 NP_001035847.1 Q8TF05 PP4R1_HUMAN protein phosphatase 4, regulatory subunit 1 316 protein phosphorylation|signal transduction protein phosphatase 4 complex protein binding|protein phosphatase type 4 regulator activity large_intestine(1)|skin(2) 3 TATGAAAGGTCCCAGAGACTG 0.338000 6 40 0.00116845 0.00123718 1 1 0 ZNF347 84671 broad.mit.edu 37 19 53644386 53644386 + Silent SNP T T A TCGA-YL-A8SI-01A-11D-A41K-08 TCGA-YL-A8SI-10A-01D-A41N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0b05122e-49c2-470c-94e2-c5d5199dfa3e 61a6c1de-8124-49df-af36-5bfb52d1b004 g.chr19:53644386T>A ENST00000452676.2 - 5 2124 c.1698A>T c.(1696-1698)ggA>ggT p.G566G ZNF347_ENST00000334197.7_Silent_p.G565G|ZNF347_ENST00000601804.1_Intron|ZNF347_ENST00000601469.2_Silent_p.G566G NM_001172674.1 NP_001166145.1 Q96SE7 ZN347_HUMAN zinc finger protein 347 565 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding endometrium(3)|kidney(2)|large_intestine(6)|lung(8)|prostate(3)|skin(1) 23 GBM - Glioblastoma multiforme(134;0.0179) AAGGTTTTTCTCCAGTATGGA 0.408000 5 183 0 0 1 0 0 SLC19A3 80704 broad.mit.edu 37 2 228564080 228564080 + Silent SNP G G A TCGA-YL-A8SI-01A-11D-A41K-08 TCGA-YL-A8SI-10A-01D-A41N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0b05122e-49c2-470c-94e2-c5d5199dfa3e 61a6c1de-8124-49df-af36-5bfb52d1b004 g.chr2:228564080G>A ENST00000258403.3 - 3 422 c.351C>T c.(349-351)acC>acT p.T117T SLC19A3_ENST00000541617.1_Silent_p.T113T|SLC19A3_ENST00000409287.1_Intron NM_025243.3 NP_079519.1 Q9BZV2 S19A3_HUMAN solute carrier family 19 (thiamine transporter), member 3 117 thiamine-containing compound metabolic process integral to membrane|plasma membrane folic acid binding|reduced folate carrier activity|thiamine uptake transmembrane transporter activity p.T117T(1) breast(1)|cervix(1)|endometrium(6)|kidney(4)|large_intestine(5)|lung(8)|ovary(2)|skin(3) 30 Renal(207;0.0112)|all_lung(227;0.0335)|Lung NSC(271;0.142)|all_hematologic(139;0.21)|Esophageal squamous(248;0.236) Epithelial(121;1.58e-10)|all cancers(144;8.55e-08)|Lung(261;0.00948)|LUSC - Lung squamous cell carcinoma(224;0.0125) L-Cysteine(DB00151) CCTCGGCGGCGGTGACCATCC 0.562000 12 46 0 0 1 0 0 BMP10 27302 broad.mit.edu 37 2 69092860 69092860 + Missense_Mutation SNP T T A TCGA-YL-A8SI-01A-11D-A41K-08 TCGA-YL-A8SI-10A-01D-A41N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0b05122e-49c2-470c-94e2-c5d5199dfa3e 61a6c1de-8124-49df-af36-5bfb52d1b004 g.chr2:69092860T>A ENST00000295379.1 - 2 1336 c.1178A>T c.(1177-1179)aAg>aTg p.K393M NM_014482.1 NP_055297.1 O95393 BMP10_HUMAN bone morphogenetic protein 10 393 activin receptor signaling pathway|adult heart development|atrial cardiac muscle tissue morphogenesis|BMP signaling pathway|cardiac muscle cell proliferation|heart trabecula formation|negative regulation of cardiac muscle hypertrophy|negative regulation of cell growth|negative regulation of endothelial cell migration|Notch signaling pathway|pathway-restricted SMAD protein phosphorylation|positive regulation of cardiac muscle cell proliferation|positive regulation of cardiac muscle hypertrophy|positive regulation of pathway-restricted SMAD protein phosphorylation|positive regulation of transcription, DNA-dependent|sarcomere organization|ventricular cardiac muscle cell development|ventricular cardiac muscle tissue morphogenesis cell surface|extracellular space|Z disc cytokine activity|growth factor activity|receptor serine/threonine kinase binding breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(6)|lung(15)|ovary(2) 27 GGGCTCTAGCTTTGTGGGCAC 0.498000 4 96 0 0 1 0 0 COMMD8 54951 broad.mit.edu 37 4 47455150 47455150 + Missense_Mutation SNP C C T TCGA-YL-A8SI-01A-11D-A41K-08 TCGA-YL-A8SI-10A-01D-A41N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0b05122e-49c2-470c-94e2-c5d5199dfa3e 61a6c1de-8124-49df-af36-5bfb52d1b004 g.chr4:47455150C>T ENST00000381571.4 - 4 524 c.457G>A c.(457-459)Gta>Ata p.V153I NM_017845.3 NP_060315.1 Q9NX08 COMD8_HUMAN COMM domain containing 8 153 COMM. protein binding large_intestine(2)|lung(5)|prostate(1) 8 TAAGGTTTTACTTCACCATTT 0.353000 7 59 0 0 1 0 0 MAN2B2 23324 broad.mit.edu 37 4 6600070 6600070 + Missense_Mutation SNP C C T rs138386873 TCGA-YL-A8SI-01A-11D-A41K-08 TCGA-YL-A8SI-10A-01D-A41N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0b05122e-49c2-470c-94e2-c5d5199dfa3e 61a6c1de-8124-49df-af36-5bfb52d1b004 g.chr4:6600070C>T ENST00000285599.3 + 9 1430 c.1394C>T c.(1393-1395)gCg>gTg p.A465V MAN2B2_ENST00000504248.1_Missense_Mutation_p.A414V NM_015274.1 NP_056089.1 Q9Y2E5 MA2B2_HUMAN mannosidase, alpha, class 2B, member 2 465 mannose metabolic process extracellular region alpha-mannosidase activity|carbohydrate binding|zinc ion binding breast(2)|cervix(2)|endometrium(4)|kidney(1)|large_intestine(3)|lung(9)|ovary(4)|prostate(2)|skin(2)|urinary_tract(1) 30 GCACCCATGGCGGCCAGCTCC 0.652000 6 18 0 0 1 0 0 NBPF1 55672 broad.mit.edu 37 1 16895621 16895621 + Missense_Mutation SNP C C T TCGA-YL-A8SI-01A-11D-A41K-08 TCGA-YL-A8SI-10A-01D-A41N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0b05122e-49c2-470c-94e2-c5d5199dfa3e 61a6c1de-8124-49df-af36-5bfb52d1b004 g.chr1:16895621C>T ENST00000430580.2 - 23 3448 c.2561G>A c.(2560-2562)gGc>gAc p.G854D NBPF1_ENST00000287968.8_3'UTR|NBPF1_ENST00000432949.1_Intron|NBPF1_ENST00000420031.2_3'UTR NM_017940.3 NP_060410.2 Q3BBV0 NBPF1_HUMAN neuroblastoma breakpoint family, member 1 854 NBPF 4. cytoplasm UCEC - Uterine corpus endometrioid carcinoma (279;0.00459)|BRCA - Breast invasive adenocarcinoma(304;7.52e-06)|COAD - Colon adenocarcinoma(227;1.05e-05)|Kidney(64;0.00016)|KIRC - Kidney renal clear cell carcinoma(64;0.00258)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.179) GTGAAATGTGCCGCTGTAAGA 0.498000 6 906 0 0 1 0 0 NR4A3 0 broad.mit.edu 37 9 102590458 102590458 + Missense_Mutation SNP C C T TCGA-YL-A8SI-01A-11D-A41K-08 TCGA-YL-A8SI-10A-01D-A41N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0b05122e-49c2-470c-94e2-c5d5199dfa3e 61a6c1de-8124-49df-af36-5bfb52d1b004 g.chr9:102590458C>T ENST00000330847.1 + 2 211 c.167C>T c.(166-168)aCt>aTt p.T56I NR4A3_ENST00000395097.2_Missense_Mutation_p.T45I|NR4A3_ENST00000338488.4_Missense_Mutation_p.T45I Q92570 NR4A3_HUMAN nuclear receptor subfamily 4, group A, member 3 45 regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor steroid hormone receptor activity|thyroid hormone receptor activity|zinc ion binding TCF12/NR4A3(2)|TAF15/NR4A3(33)|EWSR1/NR4A3(146)|TFG/NR4A3(2) Acute lymphoblastic leukemia(62;0.0559)|all_hematologic(171;0.189) CTTGGCAGCACTGAGATCACG 0.567000 T EWSR1 extraskeletal myxoid chondrosarcoma 4 49 0 0 1 0 0 NBPF1 55672 broad.mit.edu 37 1 16918653 16918653 + Splice_Site SNP C C T TCGA-YL-A8SI-01A-11D-A41K-08 TCGA-YL-A8SI-10A-01D-A41N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0b05122e-49c2-470c-94e2-c5d5199dfa3e 61a6c1de-8124-49df-af36-5bfb52d1b004 g.chr1:16918653C>T ENST00000430580.2 - 6 853 c.e6+1 NM_017940.3 NP_060410.2 Q3BBV0 NBPF1_HUMAN neuroblastoma breakpoint family, member 1 cytoplasm UCEC - Uterine corpus endometrioid carcinoma (279;0.00459)|BRCA - Breast invasive adenocarcinoma(304;7.52e-06)|COAD - Colon adenocarcinoma(227;1.05e-05)|Kidney(64;0.00016)|KIRC - Kidney renal clear cell carcinoma(64;0.00258)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.179) TCTTAACTTACTGTTGTGAAA 0.418000 3 24 0 0 1 0 0 MFSD11 79157 broad.mit.edu 37 17 74738072 74738072 + Silent SNP C C T TCGA-YL-A8SI-01A-11D-A41K-08 TCGA-YL-A8SI-10A-01D-A41N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0b05122e-49c2-470c-94e2-c5d5199dfa3e 61a6c1de-8124-49df-af36-5bfb52d1b004 g.chr17:74738072C>T ENST00000588460.1 + 4 2324 c.282C>T c.(280-282)atC>atT p.I94I MFSD11_ENST00000593181.1_Silent_p.I94I|MFSD11_ENST00000590514.1_Silent_p.I94I|MFSD11_ENST00000586622.1_Silent_p.I94I|MFSD11_ENST00000355954.3_Silent_p.I94I|MFSD11_ENST00000336509.4_Silent_p.I94I NM_001242534.1 NP_001229463.1 O43934 MFS11_HUMAN major facilitator superfamily domain containing 11 94 integral to membrane endometrium(1)|kidney(2)|large_intestine(3)|lung(7)|ovary(2)|prostate(1)|skin(1) 17 CCGTTTTCATCCAGCCTTTCC 0.398000 4 168 0 0 1 0 0 DPPA3P2 0 broad.mit.edu 37 14 36840970 36840970 + RNA SNP G G A TCGA-YL-A8SI-01A-11D-A41K-08 TCGA-YL-A8SI-10A-01D-A41N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0b05122e-49c2-470c-94e2-c5d5199dfa3e 61a6c1de-8124-49df-af36-5bfb52d1b004 g.chr14:36840970G>A ENST00000557188.1 + 0 601 AACAAACAAGGAGCCTAAGGG 0.438000 8 77 0 0 1 0 0 MAT1A 4143 broad.mit.edu 37 10 82036308 82036308 + Missense_Mutation SNP C C G TCGA-YL-A8SI-01A-11D-A41K-08 TCGA-YL-A8SI-10A-01D-A41N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0b05122e-49c2-470c-94e2-c5d5199dfa3e 61a6c1de-8124-49df-af36-5bfb52d1b004 g.chr10:82036308C>G ENST00000372213.3 - 6 852 c.592G>C c.(592-594)Gtg>Ctg p.V198L NM_000429.2 NP_000420.1 Q00266 METK1_HUMAN methionine adenosyltransferase I, alpha 198 methylation|S-adenosylmethionine biosynthetic process|xenobiotic metabolic process cytosol ATP binding|metal ion binding|methionine adenosyltransferase activity endometrium(4)|large_intestine(7)|lung(10)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 26 Colorectal(32;0.229) L-Methionine(DB00134)|S-Adenosylmethionine(DB00118) TGGATGCGCACAGGGATGACT 0.577000 9 119 0 0 1 0 0 MIR329-1 0 broad.mit.edu 37 14 101493161 101493161 + RNA SNP A A T TCGA-YL-A8SI-01A-11D-A41K-08 TCGA-YL-A8SI-10A-01D-A41N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0b05122e-49c2-470c-94e2-c5d5199dfa3e 61a6c1de-8124-49df-af36-5bfb52d1b004 g.chr14:101493161A>T ENST00000385028.1 + 0 40 NR_029967.1 TGTTTCTTTAATGAGGACGAA 0.468000 4 129 0 0 1 0 0 TRPA1 8989 broad.mit.edu 37 8 72973925 72973925 + Silent SNP C C T TCGA-YL-A8SI-01A-11D-A41K-08 TCGA-YL-A8SI-10A-01D-A41N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0b05122e-49c2-470c-94e2-c5d5199dfa3e 61a6c1de-8124-49df-af36-5bfb52d1b004 g.chr8:72973925C>T ENST00000262209.4 - 7 1086 c.879G>A c.(877-879)tcG>tcA p.S293S NM_007332.2 NP_015628.2 O75762 TRPA1_HUMAN transient receptor potential cation channel, subfamily A, member 1 293 integral to plasma membrane NS(1)|breast(2)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(26)|lung(44)|ovary(4)|prostate(6)|stomach(1) 98 Epithelial(68;0.223) Menthol(DB00825) CAGAATAGGACGATATCATCA 0.423000 5 47 0 0 1 0 0 NOTCH2 4853 broad.mit.edu 37 1 120468195 120468195 + Missense_Mutation SNP G G A TCGA-YL-A8SI-01A-11D-A41K-08 TCGA-YL-A8SI-10A-01D-A41N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0b05122e-49c2-470c-94e2-c5d5199dfa3e 61a6c1de-8124-49df-af36-5bfb52d1b004 g.chr1:120468195G>A ENST00000256646.2 - 25 4463 c.4244C>T c.(4243-4245)aCg>aTg p.T1415M NM_024408.3 NP_077719.2 Q04721 NOTC2_HUMAN notch 2 1415 anti-apoptosis|bone remodeling|cell cycle arrest|cell fate determination|cell growth|hemopoiesis|induction of apoptosis|negative regulation of cell proliferation|nervous system development|Notch receptor processing|Notch signaling pathway|organ morphogenesis|positive regulation of Ras protein signal transduction|regulation of transcription, DNA-dependent|stem cell maintenance|transcription, DNA-dependent cell surface|cytosol|endoplasmic reticulum lumen|extracellular region|Golgi lumen|integral to plasma membrane|nucleoplasm calcium ion binding|ligand-regulated transcription factor activity|protein binding|receptor activity breast(4)|central_nervous_system(6)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(9)|kidney(9)|large_intestine(19)|liver(1)|lung(57)|ovary(4)|pancreas(1)|prostate(7)|skin(24)|stomach(2)|upper_aerodigestive_tract(5)|urinary_tract(1) 158 all_neural(166;0.153) all_lung(203;1.96e-06)|Lung NSC(69;1.47e-05)|all_epithelial(167;0.000809) Lung(183;0.0242)|LUSC - Lung squamous cell carcinoma(189;0.133) GGGGGGTGCCGTGTAGAGTTC 0.642000 """N, F, Mis""" """marginal zone lymphoma, DLBCL""" Alagille Syndrome 4 56 0 0 1 0 0 COL11A1 1301 broad.mit.edu 37 1 103405948 103405948 + Nonsense_Mutation SNP G G A TCGA-YL-A8SI-01A-11D-A41K-08 TCGA-YL-A8SI-10A-01D-A41N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0b05122e-49c2-470c-94e2-c5d5199dfa3e 61a6c1de-8124-49df-af36-5bfb52d1b004 g.chr1:103405948G>A ENST00000358392.2 - 43 3672 c.3355C>T c.(3355-3357)Caa>Taa p.Q1119* COL11A1_ENST00000353414.4_Nonsense_Mutation_p.Q1068*|COL11A1_ENST00000512756.1_Nonsense_Mutation_p.Q991*|COL11A1_ENST00000370096.3_Nonsense_Mutation_p.Q1107* NM_080629.2 NP_542196.2 P12107 COBA1_HUMAN collagen, type XI, alpha 1 1107 Triple-helical region. collagen fibril organization|detection of mechanical stimulus involved in sensory perception of sound|visual perception collagen type XI extracellular matrix binding|extracellular matrix structural constituent|protein binding, bridging p.Q1119E(1) NS(3)|biliary_tract(1)|breast(5)|central_nervous_system(2)|cervix(1)|endometrium(17)|kidney(8)|large_intestine(28)|lung(157)|ovary(6)|pancreas(2)|prostate(6)|skin(9)|stomach(1)|upper_aerodigestive_tract(11)|urinary_tract(1) 258 all_epithelial(167;2.52e-07)|all_lung(203;3.11e-05)|Lung NSC(277;6.61e-05)|Breast(1374;0.181) Lung(183;0.186)|all cancers(265;0.242)|Epithelial(280;0.248) ACAGGACCTTGAACTCCATCT 0.493000 7 25 0 0 1 0 0 PLA2R1 0 broad.mit.edu 37 2 160833917 160833917 + Missense_Mutation SNP G G A TCGA-YL-A8SI-01A-11D-A41K-08 TCGA-YL-A8SI-10A-01D-A41N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0b05122e-49c2-470c-94e2-c5d5199dfa3e 61a6c1de-8124-49df-af36-5bfb52d1b004 g.chr2:160833917G>A ENST00000283243.7 - 15 2485 c.2279C>T c.(2278-2280)tCg>tTg p.S760L PLA2R1_ENST00000392771.1_Missense_Mutation_p.S760L NM_001195641.1|NM_007366.4 NP_001182570.1|NP_031392.3 Q13018 PLA2R_HUMAN phospholipase A2 receptor 1, 180kDa 760 C-type lectin 4. endocytosis extracellular space|integral to plasma membrane receptor activity|sugar binding PLA2R1/RBMS1(2) central_nervous_system(1)|endometrium(8)|kidney(2)|large_intestine(17)|lung(20)|ovary(1)|pancreas(1)|prostate(1)|skin(7)|stomach(1)|upper_aerodigestive_tract(1) 60 GTCTAAAAACGAAGAGACAAC 0.388000 5 77 0 0 1 0 0 LRIT2 340745 broad.mit.edu 37 10 85981739 85981739 + Silent SNP G G A TCGA-YL-A8SI-01A-11D-A41K-08 TCGA-YL-A8SI-10A-01D-A41N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0b05122e-49c2-470c-94e2-c5d5199dfa3e 61a6c1de-8124-49df-af36-5bfb52d1b004 g.chr10:85981739G>A ENST00000372113.4 - 3 1595 c.1590C>T c.(1588-1590)gaC>gaT p.D530D LRIT2_ENST00000538192.1_Silent_p.D540D NM_001017924.2 NP_001017924.1 A6NDA9 LRIT2_HUMAN leucine-rich repeat, immunoglobulin-like and transmembrane domains 2 530 integral to membrane central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(13)|ovary(3)|prostate(6)|urinary_tract(1) 32 GCCCTTCACCGTCATCACAGA 0.587000 5 69 0 0 1 0 0 VASN 114990 broad.mit.edu 37 16 4432517 4432517 + Missense_Mutation SNP G G A TCGA-YL-A8SI-01A-11D-A41K-08 TCGA-YL-A8SI-10A-01D-A41N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0b05122e-49c2-470c-94e2-c5d5199dfa3e 61a6c1de-8124-49df-af36-5bfb52d1b004 g.chr16:4432517G>A ENST00000304735.3 + 2 1794 c.1639G>A c.(1639-1641)Gag>Aag p.E547K CORO7_ENST00000251166.4_Intron|CORO7_ENST00000537233.2_Intron|CORO7-PAM16_ENST00000572467.1_Intron|CORO7_ENST00000423908.2_Intron|CORO7_ENST00000574025.1_Intron|CORO7_ENST00000539968.1_Intron NM_138440.2 NP_612449.2 Q6EMK4 VASN_HUMAN vasorin 547 Fibronectin type-III. extracellular region|integral to membrane breast(1)|lung(3)|prostate(1)|skin(1) 6 GCCGGAGGGCGAGGAGGCCTG 0.711000 3 4 0 0 1 0 0 ZNF846 162993 broad.mit.edu 37 19 9869005 9869005 + Missense_Mutation SNP C C T TCGA-YL-A8SI-01A-11D-A41K-08 TCGA-YL-A8SI-10A-01D-A41N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0b05122e-49c2-470c-94e2-c5d5199dfa3e 61a6c1de-8124-49df-af36-5bfb52d1b004 g.chr19:9869005C>T ENST00000397902.2 - 6 1161 c.748G>A c.(748-750)Gga>Aga p.G250R ZNF846_ENST00000586293.1_3'UTR|ZNF846_ENST00000588267.1_Missense_Mutation_p.G121R|ZNF846_ENST00000592859.1_Missense_Mutation_p.G121R NM_001077624.1 NP_001071092.1 Q147U1 ZN846_HUMAN zinc finger protein 846 250 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding NS(1)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(7)|lung(8)|ovary(1)|upper_aerodigestive_tract(1) 22 GGCTTCTCTCCACTGTGAATT 0.383000 7 62 0 0 1 0 0 ANK2 287 broad.mit.edu 37 4 114279456 114279456 + Missense_Mutation SNP G G A rs141013157 by1000genomes TCGA-YL-A8SI-01A-11D-A41K-08 TCGA-YL-A8SI-10A-01D-A41N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0b05122e-49c2-470c-94e2-c5d5199dfa3e 61a6c1de-8124-49df-af36-5bfb52d1b004 g.chr4:114279456G>A ENST00000357077.4 + 38 9735 c.9682G>A c.(9682-9684)Gtg>Atg p.V3228M ANK2_ENST00000510275.2_Intron|ANK2_ENST00000264366.6_Missense_Mutation_p.V3195M|ANK2_ENST00000509550.1_Intron|ANK2_ENST00000506722.1_Intron|ANK2_ENST00000394537.3_Intron NM_001148.4 NP_001139.3 Q01484 ANK2_HUMAN ankyrin 2, neuronal 3195 axon guidance|signal transduction apical plasma membrane|basolateral plasma membrane|cytoskeleton|cytosol|sarcomere protein binding NS(1)|biliary_tract(1)|breast(9)|central_nervous_system(10)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(54)|liver(2)|lung(112)|ovary(8)|pancreas(1)|prostate(7)|skin(11)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(10) 248 Ovarian(17;0.0448)|Hepatocellular(203;0.218) OV - Ovarian serous cystadenocarcinoma(123;4.92e-05) CCTCCCCACCGTGCAAACGGG 0.488000 5 36 0 0 1 0 0 IGKV2D-29 0 broad.mit.edu 37 2 89986987 89986987 + RNA SNP A A T TCGA-YL-A8SI-01A-11D-A41K-08 TCGA-YL-A8SI-10A-01D-A41N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0b05122e-49c2-470c-94e2-c5d5199dfa3e 61a6c1de-8124-49df-af36-5bfb52d1b004 g.chr2:89986987A>T ENST00000491977.1 + 0 298 GTTCAGTGGCAGCGGGTCAGG 0.512000 6 59 0 0 1 0 0 TGFBRAP1 9392 broad.mit.edu 37 2 105900818 105900818 + Missense_Mutation SNP A A G TCGA-YL-A8SI-01A-11D-A41K-08 TCGA-YL-A8SI-10A-01D-A41N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0b05122e-49c2-470c-94e2-c5d5199dfa3e 61a6c1de-8124-49df-af36-5bfb52d1b004 g.chr2:105900818A>G ENST00000393359.2 - 5 1502 c.1076T>C c.(1075-1077)aTa>aCa p.I359T TGFBRAP1_ENST00000258449.1_Missense_Mutation_p.I359T Q8WUH2 TGFA1_HUMAN transforming growth factor, beta receptor associated protein 1 359 regulation of transcription, DNA-dependent|transforming growth factor beta receptor signaling pathway cytoplasm|membrane SMAD binding|small GTPase regulator activity|transforming growth factor beta receptor binding central_nervous_system(1)|cervix(1)|endometrium(7)|kidney(2)|large_intestine(5)|lung(11)|prostate(1)|skin(1)|stomach(1)|urinary_tract(1) 31 TGCAAACTGTATAAATCCCGC 0.463000 11 136 0 0 1 0 0 CPT2 1376 broad.mit.edu 37 1 53676058 53676058 + Missense_Mutation SNP G G A TCGA-YL-A8SI-01A-11D-A41K-08 TCGA-YL-A8SI-10A-01D-A41N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0b05122e-49c2-470c-94e2-c5d5199dfa3e 61a6c1de-8124-49df-af36-5bfb52d1b004 g.chr1:53676058G>A ENST00000371486.3 + 4 1227 c.712G>A c.(712-714)Gac>Aac p.D238N NM_000098.2 NP_000089.1 P23786 CPT2_HUMAN carnitine palmitoyltransferase 2 238 carnitine shuttle|fatty acid beta-oxidation|regulation of fatty acid oxidation mitochondrial inner membrane carnitine O-palmitoyltransferase activity breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(2)|lung(7)|skin(1)|upper_aerodigestive_tract(1) 15 L-Carnitine(DB00583)|Perhexiline(DB01074) CTTCACTGATGACAAGGCCAG 0.473000 6 42 0 0 1 0 0 FAM199X 139231 broad.mit.edu 37 X 103420367 103420367 + Silent SNP A A G TCGA-YL-A8SI-01A-11D-A41K-08 TCGA-YL-A8SI-10A-01D-A41N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0b05122e-49c2-470c-94e2-c5d5199dfa3e 61a6c1de-8124-49df-af36-5bfb52d1b004 g.chrX:103420367A>G ENST00000493442.1 + 2 427 c.261A>G c.(259-261)tcA>tcG p.S87S NM_207318.3 NP_997201.1 Q6PEV8 F199X_HUMAN family with sequence similarity 199, X-linked 87 breast(1)|cervix(1)|endometrium(1)|large_intestine(3)|lung(2)|ovary(1)|prostate(1)|skin(1) 11 AGCTGTTTTCATCTGTGTCTG 0.423000 4 38 0 0 1 0 0 ATP2B2 491 broad.mit.edu 37 3 10491116 10491116 + Missense_Mutation SNP G G A TCGA-YL-A8SI-01A-11D-A41K-08 TCGA-YL-A8SI-10A-01D-A41N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0b05122e-49c2-470c-94e2-c5d5199dfa3e 61a6c1de-8124-49df-af36-5bfb52d1b004 g.chr3:10491116G>A ENST00000397077.1 - 4 687 c.112C>T c.(112-114)Cgg>Tgg p.R38W ATP2B2_ENST00000383800.4_Missense_Mutation_p.R38W|ATP2B2_ENST00000343816.4_Missense_Mutation_p.R38W|ATP2B2_ENST00000352432.4_Missense_Mutation_p.R38W|ATP2B2_ENST00000360273.2_Missense_Mutation_p.R38W Q01814 AT2B2_HUMAN ATPase, Ca++ transporting, plasma membrane 2 38 ATP biosynthetic process|cytosolic calcium ion homeostasis|platelet activation cytosol|integral to membrane|plasma membrane ATP binding|calcium ion binding|calcium-transporting ATPase activity|calmodulin binding|metal ion binding|PDZ domain binding|protein C-terminus binding breast(1)|central_nervous_system(2)|cervix(1)|endometrium(7)|large_intestine(19)|lung(29)|ovary(5)|prostate(2)|skin(4)|stomach(2)|urinary_tract(2) 74 TCAGTGCCCCGCAGCTCCATG 0.552000 5 42 0 0 1 0 0 MS4A5 64232 broad.mit.edu 37 11 60201358 60201358 + Missense_Mutation SNP A A T TCGA-YL-A8SI-01A-11D-A41K-08 TCGA-YL-A8SI-10A-01D-A41N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0b05122e-49c2-470c-94e2-c5d5199dfa3e 61a6c1de-8124-49df-af36-5bfb52d1b004 g.chr11:60201358A>T ENST00000300190.2 + 4 546 c.460A>T c.(460-462)Agt>Tgt p.S154C MS4A5_ENST00000534071.1_3'UTR NM_023945.2 NP_076434.2 Q9H3V2 MS4A5_HUMAN membrane-spanning 4-domains, subfamily A, member 5 154 integral to membrane receptor activity large_intestine(7)|lung(7)|ovary(1)|skin(1) 16 TCACCAAAATAGTCAGTGTAA 0.363000 11 64 0 0 1 0 0 C1orf173 127254 broad.mit.edu 37 1 75038795 75038795 + Missense_Mutation SNP C C T rs140579756 TCGA-YL-A8SI-01A-11D-A41K-08 TCGA-YL-A8SI-10A-01D-A41N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0b05122e-49c2-470c-94e2-c5d5199dfa3e 61a6c1de-8124-49df-af36-5bfb52d1b004 g.chr1:75038795C>T ENST00000326665.5 - 14 2817 c.2599G>A c.(2599-2601)Gct>Act p.A867T C1orf173_ENST00000433746.2_5'UTR NM_001002912.4 NP_001002912.4 Q5RHP9 CA173_HUMAN chromosome 1 open reading frame 173 867 Glu-rich. NS(1)|breast(1)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(23)|lung(123)|ovary(3)|prostate(10)|skin(10)|stomach(1)|upper_aerodigestive_tract(5) 184 AGACCCACAGCATCTTTTGCT 0.537000 8 114 0 0 1 0 0 FLG2 388698 broad.mit.edu 37 1 152327338 152327338 + Missense_Mutation SNP C C T TCGA-YL-A8SI-01A-11D-A41K-08 TCGA-YL-A8SI-10A-01D-A41N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0b05122e-49c2-470c-94e2-c5d5199dfa3e 61a6c1de-8124-49df-af36-5bfb52d1b004 g.chr1:152327338C>T ENST00000388718.5 - 3 2996 c.2924G>A c.(2923-2925)gGa>gAa p.G975E FLG-AS1_ENST00000445097.1_RNA|FLG-AS1_ENST00000392688.2_RNA NM_001014342.2 NP_001014364.1 Q5D862 FILA2_HUMAN filaggrin family member 2 975 Ser-rich. calcium ion binding|structural molecule activity NS(2)|breast(7)|cervix(3)|endometrium(11)|kidney(9)|large_intestine(24)|liver(1)|lung(85)|ovary(12)|pancreas(1)|prostate(6)|skin(17)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(5) 188 Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127) LUSC - Lung squamous cell carcinoma(543;0.206) CTCATGTTGTCCAAAGCCAGA 0.493000 9 245 0 0 1 0 0 RYR3 6263 broad.mit.edu 37 15 34093025 34093025 + Silent SNP G G C TCGA-YL-A8SI-01A-11D-A41K-08 TCGA-YL-A8SI-10A-01D-A41N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0b05122e-49c2-470c-94e2-c5d5199dfa3e 61a6c1de-8124-49df-af36-5bfb52d1b004 g.chr15:34093025G>C ENST00000389232.4 + 68 9955 c.9885G>C c.(9883-9885)gtG>gtC p.V3295V RYR3_ENST00000415757.3_Silent_p.V3295V NM_001036.3 NP_001027.3 Q15413 RYR3_HUMAN ryanodine receptor 3 3295 cellular calcium ion homeostasis integral to membrane calcium ion binding|receptor activity|ryanodine-sensitive calcium-release channel activity NS(3)|breast(9)|central_nervous_system(8)|cervix(2)|endometrium(29)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(55)|lung(148)|ovary(7)|pancreas(1)|prostate(13)|skin(4)|stomach(1)|upper_aerodigestive_tract(8)|urinary_tract(3) 311 all_lung(180;7.18e-09) all cancers(64;8.95e-12)|GBM - Glioblastoma multiforme(186;0.00109)|BRCA - Breast invasive adenocarcinoma(123;0.0363) TCCGCATGGTGGCAGAAGTCT 0.433000 7 36 0 0 1 0 0 AC008103.5 0 broad.mit.edu 37 22 18844888 18844888 + RNA SNP A A G TCGA-YL-A8SI-01A-11D-A41K-08 TCGA-YL-A8SI-10A-01D-A41N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0b05122e-49c2-470c-94e2-c5d5199dfa3e 61a6c1de-8124-49df-af36-5bfb52d1b004 g.chr22:18844888A>G ENST00000412938.1 + 0 3138 GCTCACGGAAATACAGCTTCA 0.587000 5 30 0 0 1 0 0 NR4A3 0 broad.mit.edu 37 9 102590448 102590448 + Missense_Mutation SNP C C A TCGA-YL-A8SI-01A-11D-A41K-08 TCGA-YL-A8SI-10A-01D-A41N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0b05122e-49c2-470c-94e2-c5d5199dfa3e 61a6c1de-8124-49df-af36-5bfb52d1b004 g.chr9:102590448C>A ENST00000330847.1 + 2 201 c.157C>A c.(157-159)Ctt>Att p.L53I NR4A3_ENST00000395097.2_Missense_Mutation_p.L42I|NR4A3_ENST00000338488.4_Missense_Mutation_p.L42I Q92570 NR4A3_HUMAN nuclear receptor subfamily 4, group A, member 3 42 regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor steroid hormone receptor activity|thyroid hormone receptor activity|zinc ion binding TCF12/NR4A3(2)|TAF15/NR4A3(33)|EWSR1/NR4A3(146)|TFG/NR4A3(2) Acute lymphoblastic leukemia(62;0.0559)|all_hematologic(171;0.189) GACCATGGACCTTGGCAGCAC 0.572000 T EWSR1 extraskeletal myxoid chondrosarcoma 6 46 0.248553 0.248553 1 1 0 GBA3 57733 broad.mit.edu 37 4 22729111 22729111 + RNA SNP C C A TCGA-YL-A8SI-01A-11D-A41K-08 TCGA-YL-A8SI-10A-01D-A41N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0b05122e-49c2-470c-94e2-c5d5199dfa3e 61a6c1de-8124-49df-af36-5bfb52d1b004 g.chr4:22729111C>A ENST00000508166.1 + 0 160 GBA3_ENST00000503442.1_RNA|GBA3_ENST00000511446.1_RNA NM_020973.4 NP_066024.1 Q9H227 GBA3_HUMAN glucosidase, beta, acid 3 (gene/pseudogene) glycoside catabolic process|glycosylceramide catabolic process cytosol beta-galactosidase activity|beta-glucosidase activity|cation binding|glycosylceramidase activity breast(1)|kidney(2)|large_intestine(4)|lung(20)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 33 GAACACTCCACATACTTGACA 0.488000 4 122 0.150653 0.154958 1 1 0 EFNA5 1946 broad.mit.edu 37 5 107006189 107006189 + Splice_Site DEL C C - TCGA-YL-A8SI-01A-11D-A41K-08 TCGA-YL-A8SI-10A-01D-A41N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0b05122e-49c2-470c-94e2-c5d5199dfa3e 61a6c1de-8124-49df-af36-5bfb52d1b004 g.chr5:107006189delC ENST00000333274.6 - 1 407 c.e1+1 EFNA5_ENST00000509503.1_Splice_Site NM_001962.2 NP_001953.1 P52803 EFNA5_HUMAN ephrin-A5 cell-cell signaling anchored to plasma membrane|caveola|extracellular space ephrin receptor binding large_intestine(6) 6 all_cancers(142;5.15e-06)|all_epithelial(76;4.39e-07)|Prostate(80;0.00726)|Lung NSC(167;0.0736)|Ovarian(225;0.0797)|all_lung(232;0.0854)|Colorectal(57;0.241) Epithelial(69;1.25e-12)|OV - Ovarian serous cystadenocarcinoma(64;1.32e-11)|BRCA - Breast invasive adenocarcinoma(61;0.0376)|COAD - Colon adenocarcinoma(37;0.109) TATCGGCTTACCTGGGGTTGC 0.692 2 4 --- --- --- --- MYH16 0 broad.mit.edu 37 7 98845201 98845201 + RNA DEL C C - TCGA-YL-A8SI-01A-11D-A41K-08 TCGA-YL-A8SI-10A-01D-A41N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0b05122e-49c2-470c-94e2-c5d5199dfa3e 61a6c1de-8124-49df-af36-5bfb52d1b004 g.chr7:98845201delC ENST00000453194.1 + 0 272 TGACCATCTTCCCTCCCTCCC 0.572 2 4 --- --- --- --- KMT2D 8085 broad.mit.edu 37 12 49434129 49434129 + Frame_Shift_Del DEL G G - TCGA-YL-A8SI-01A-11D-A41K-08 TCGA-YL-A8SI-10A-01D-A41N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0b05122e-49c2-470c-94e2-c5d5199dfa3e 61a6c1de-8124-49df-af36-5bfb52d1b004 g.chr12:49434129delG ENST00000301067.7 - 31 7423 c.7424delC c.(7423-7425)ctfs p.P2475fs NM_003482.3 NP_003473.3 lysine (K)-specific methyltransferase 2D GGCAACTTCAGGGGGCTGGGG 0.662 7 47 --- --- --- ---