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 MAP1B 4131 broad.mit.edu 37 5 71492290 71492290 + Silent SNP G G A rs150527364 TCGA-WB-A81S-01A-11D-A35I-08 TCGA-WB-A81S-10A-01D-A35G-08 Untested Somatic Phase_I WXS none Illumina GAIIx d64bff8a-a1fc-43a6-b127-c48ce4b97fb3 7f750dc8-a5e7-4ed1-8248-d66f3a6c7629 g.chr5:71492290G>A ENST00000296755.7 + 5 3406 c.3108G>A c.(3106-3108)ccG>ccA p.P1036P NM_005909.3 NP_005900.2 P46821 MAP1B_HUMAN microtubule-associated protein 1B 1036 microtubule|microtubule associated complex structural molecule activity p.P1036P(1) NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(42)|liver(1)|lung(28)|ovary(1)|pancreas(1)|prostate(3)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(3) 104 Lung NSC(167;0.00202)|Ovarian(174;0.0175)|Prostate(461;0.142)|Breast(144;0.198) OV - Ovarian serous cystadenocarcinoma(47;7.99e-54) AATATGAGCCGGAAAAAATGG 0.517000 3 50 0 0 1 0 0 IGHG4 3503 broad.mit.edu 37 14 106090814 106090814 + RNA SNP C C G TCGA-WB-A81S-01A-11D-A35I-08 TCGA-WB-A81S-10A-01D-A35G-08 Untested Somatic Phase_I WXS none Illumina GAIIx d64bff8a-a1fc-43a6-b127-c48ce4b97fb3 7f750dc8-a5e7-4ed1-8248-d66f3a6c7629 g.chr14:106090814C>G ENST00000390543.2 - 0 982 CCCTGGCACTCATTTACCCAG 0.632000 10 47 0 0 1 0 0 LPPR1 54886 broad.mit.edu 37 9 104075136 104075136 + Silent SNP G G T rs144819698 TCGA-WB-A81S-01A-11D-A35I-08 TCGA-WB-A81S-10A-01D-A35G-08 Untested Somatic Phase_I WXS none Illumina GAIIx d64bff8a-a1fc-43a6-b127-c48ce4b97fb3 7f750dc8-a5e7-4ed1-8248-d66f3a6c7629 g.chr9:104075136G>T ENST00000374874.3 + 6 1132 c.693G>T c.(691-693)ctG>ctT p.L231L LPPR1_ENST00000395056.2_Silent_p.L231L NM_207299.1 NP_997182.1 Q8TBJ4 LPPR1_HUMAN 231 integral to membrane catalytic activity AGCCGGTGCTGTGCCTCGGAA 0.562000 4 74 0.00909568 0.00909568 1 1 0 P4HTM 54681 broad.mit.edu 37 3 49028318 49028318 + Missense_Mutation SNP G G A TCGA-WB-A81S-01A-11D-A35I-08 TCGA-WB-A81S-10A-01D-A35G-08 Untested Somatic Phase_I WXS none Illumina GAIIx d64bff8a-a1fc-43a6-b127-c48ce4b97fb3 7f750dc8-a5e7-4ed1-8248-d66f3a6c7629 g.chr3:49028318G>A ENST00000343546.4 + 2 775 c.407G>A c.(406-408)cGa>cAa p.R136Q P4HTM_ENST00000383729.4_Missense_Mutation_p.R136Q|P4HTM_ENST00000468374.1_3'UTR NM_177938.2 NP_808807.2 Q9NXG6 P4HTM_HUMAN prolyl 4-hydroxylase, transmembrane (endoplasmic reticulum) 136 endoplasmic reticulum membrane|integral to membrane calcium ion binding|iron ion binding|L-ascorbic acid binding|oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen NS(1)|breast(2)|kidney(1)|large_intestine(1)|lung(10)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|urinary_tract(1) 21 Vitamin C(DB00126) CACTTCATCCGAACCCTCAGC 0.642000 5 13 0 0 1 0 0 PKD1L2 114780 broad.mit.edu 37 16 81253679 81253679 + Silent SNP C C A TCGA-WB-A81S-01A-11D-A35I-08 TCGA-WB-A81S-10A-01D-A35G-08 Untested Somatic Phase_I WXS none Illumina GAIIx d64bff8a-a1fc-43a6-b127-c48ce4b97fb3 7f750dc8-a5e7-4ed1-8248-d66f3a6c7629 g.chr16:81253679C>A ENST00000599697.1 - 1 296 c.297G>T c.(295-297)acG>acT p.T99T PKD1L2_ENST00000525539.1_RNA|PKD1L2_ENST00000337114.4_RNA Q7Z442 PK1L2_HUMAN polycystic kidney disease 1-like 2 99 C-type lectin. neuropeptide signaling pathway integral to membrane calcium ion binding|ion channel activity|sugar binding breast(2)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(9)|lung(20)|ovary(2)|pancreas(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 44 ACCTACCCTCCGTGGTTCCAT 0.488000 11 39 9.05144e-12 1.0444e-11 1 1 0 STOML3 161003 broad.mit.edu 37 13 39544453 39544453 + Missense_Mutation SNP C C T TCGA-WB-A81S-01A-11D-A35I-08 TCGA-WB-A81S-10A-01D-A35G-08 Untested Somatic Phase_I WXS none Illumina GAIIx d64bff8a-a1fc-43a6-b127-c48ce4b97fb3 7f750dc8-a5e7-4ed1-8248-d66f3a6c7629 g.chr13:39544453C>T ENST00000379631.4 - 5 729 c.385G>A c.(385-387)Gca>Aca p.A129T STOML3_ENST00000423210.1_Missense_Mutation_p.A120T NM_145286.2 NP_660329.1 Q8TAV4 STML3_HUMAN stomatin (EPB72)-like 3 129 integral to membrane|plasma membrane breast(1)|large_intestine(2)|lung(5)|ovary(1)|prostate(1)|skin(1) 11 Lung NSC(96;1.42e-05)|Prostate(109;0.00851)|Breast(139;0.0199)|Lung SC(185;0.0743) all cancers(112;2.93e-08)|Epithelial(112;3.64e-06)|OV - Ovarian serous cystadenocarcinoma(117;0.00107)|BRCA - Breast invasive adenocarcinoma(63;0.00349)|GBM - Glioblastoma multiforme(144;0.0137) TTAGCCACTGCTGAGACAGCA 0.458000 5 121 0 0 1 0 0 LOC101927209 101927209 broad.mit.edu 37 1 142713773 142713773 + RNA SNP C C G TCGA-WB-A81S-01A-11D-A35I-08 TCGA-WB-A81S-10A-01D-A35G-08 Untested Somatic Phase_I WXS none Illumina GAIIx d64bff8a-a1fc-43a6-b127-c48ce4b97fb3 7f750dc8-a5e7-4ed1-8248-d66f3a6c7629 g.chr1:142713773C>G ENST00000369381.2 - 0 832 TCTTTTTCCACATTGTCATTT 0.284000 4 63 0 0 1 0 0 KMT2A 4297 broad.mit.edu 37 11 118376687 118376687 + Silent SNP A A C TCGA-WB-A81S-01A-11D-A35I-08 TCGA-WB-A81S-10A-01D-A35G-08 Untested Somatic Phase_I WXS none Illumina GAIIx d64bff8a-a1fc-43a6-b127-c48ce4b97fb3 7f750dc8-a5e7-4ed1-8248-d66f3a6c7629 g.chr11:118376687A>C ENST00000534358.1 + 27 10103 c.10080A>C c.(10078-10080)tcA>tcC p.S3360S KMT2A_ENST00000389506.5_Silent_p.S3357S|KMT2A_ENST00000354520.4_Silent_p.S3319S NM_001197104.1|NM_005933.3 NP_001184033.1|NP_005924.2 lysine (K)-specific methyltransferase 2A GTAGTGCGTCAGTTCCAGGAC 0.493000 27 53 0 0 1 0 0 LAMA4 3910 broad.mit.edu 37 6 112452193 112452193 + Silent SNP G G A TCGA-WB-A81S-01A-11D-A35I-08 TCGA-WB-A81S-10A-01D-A35G-08 Untested Somatic Phase_I WXS none Illumina GAIIx d64bff8a-a1fc-43a6-b127-c48ce4b97fb3 7f750dc8-a5e7-4ed1-8248-d66f3a6c7629 g.chr6:112452193G>A ENST00000230538.7 - 29 4342 c.3945C>T c.(3943-3945)gtC>gtT p.V1315V LAMA4_ENST00000389463.4_Silent_p.V1308V|LAMA4_ENST00000424408.2_Silent_p.V1308V|LAMA4_ENST00000522006.1_Silent_p.V1308V NM_001105206.2 NP_001098676.2 Q16363 LAMA4_HUMAN laminin, alpha 4 1315 Laminin G-like 3. cell adhesion|regulation of cell adhesion|regulation of cell migration|regulation of embryonic development laminin-1 complex extracellular matrix structural constituent|receptor binding NS(1)|breast(6)|central_nervous_system(2)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(18)|lung(42)|ovary(4)|pancreas(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(8) 100 all_cancers(87;0.000196)|all_hematologic(75;0.000114)|all_epithelial(87;0.00542)|Colorectal(196;0.0209) all cancers(137;0.0335)|OV - Ovarian serous cystadenocarcinoma(136;0.0578)|Epithelial(106;0.0748)|BRCA - Breast invasive adenocarcinoma(108;0.242) CAGAGCTAATGACGAAGTGGG 0.408000 5 21 0 0 1 0 0 BIRC3 330 broad.mit.edu 37 11 102195247 102195247 + Missense_Mutation SNP A A G TCGA-WB-A81S-01A-11D-A35I-08 TCGA-WB-A81S-10A-01D-A35G-08 Untested Somatic Phase_I WXS none Illumina GAIIx d64bff8a-a1fc-43a6-b127-c48ce4b97fb3 7f750dc8-a5e7-4ed1-8248-d66f3a6c7629 g.chr11:102195247A>G ENST00000263464.3 + 2 2757 c.7A>G c.(7-9)Ata>Gta p.I3V BIRC3_ENST00000532808.1_Missense_Mutation_p.I3V NM_001165.4 NP_001156.1 Q13489 BIRC3_HUMAN baculoviral IAP repeat containing 3 3 anti-apoptosis|apoptosis|cell surface receptor linked signaling pathway cytoplasm|nucleus protein binding|ubiquitin-protein ligase activity|zinc ion binding endometrium(3)|kidney(2)|large_intestine(7)|lung(5)|ovary(3)|skin(1) 21 all_cancers(8;0.00044)|all_epithelial(12;0.00348)|Lung NSC(15;0.227) Acute lymphoblastic leukemia(157;0.000967)|all_hematologic(158;0.0093) Lung(13;0.109)|LUSC - Lung squamous cell carcinoma(19;0.151) BRCA - Breast invasive adenocarcinoma(274;0.0146) CATTATGAACATAGTAGAAAA 0.373000 T MALT1 MALT 9 20 0 0 1 0 0 NDUFAF2 91942 broad.mit.edu 37 5 60241050 60241050 + Translation_Start_Site SNP G G A TCGA-WB-A81S-01A-11D-A35I-08 TCGA-WB-A81S-10A-01D-A35G-08 Untested Somatic Phase_I WXS none Illumina GAIIx d64bff8a-a1fc-43a6-b127-c48ce4b97fb3 7f750dc8-a5e7-4ed1-8248-d66f3a6c7629 g.chr5:60241050G>A ENST00000296597.5 + 0 95 NDUFAF2_ENST00000511107.1_De_novo_Start_OutOfFrame NM_174889.4 NP_777549.1 Q8N183 MIMIT_HUMAN NADH dehydrogenase (ubiquinone) complex I, assembly factor 2 membrane|mitochondrion electron carrier activity|NADH dehydrogenase (ubiquinone) activity central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(1)|ovary(1) 6 Lung NSC(810;3.36e-05)|Prostate(74;0.0225)|Ovarian(174;0.17)|Breast(144;0.237) TGCGGGTCCCGCTGCTGGCAG 0.632000 3 5 0 0 1 0 0 TSGA10 80705 broad.mit.edu 37 2 99695278 99695278 + Splice_Site SNP T T A TCGA-WB-A81S-01A-11D-A35I-08 TCGA-WB-A81S-10A-01D-A35G-08 Untested Somatic Phase_I WXS none Illumina GAIIx d64bff8a-a1fc-43a6-b127-c48ce4b97fb3 7f750dc8-a5e7-4ed1-8248-d66f3a6c7629 g.chr2:99695278T>A ENST00000393483.3 - 12 1572 c.e12-2 TSGA10_ENST00000539964.1_Splice_Site|TSGA10_ENST00000355053.4_Splice_Site|TSGA10_ENST00000478090.1_Intron|TSGA10_ENST00000410001.1_Splice_Site|TSGA10_ENST00000542655.1_Splice_Site NM_025244.2 NP_079520.1 Q9BZW7 TSG10_HUMAN testis specific, 10 spermatogenesis cytoplasm|nuclear membrane NS(2)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(8)|lung(10)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1) 34 TAAAGTTATCTATGTATGCAA 0.323000 6 29 0 0 1 0 0 EML2 24139 broad.mit.edu 37 19 46120071 46120071 + Missense_Mutation SNP T T C TCGA-WB-A81S-01A-11D-A35I-08 TCGA-WB-A81S-10A-01D-A35G-08 Untested Somatic Phase_I WXS none Illumina GAIIx d64bff8a-a1fc-43a6-b127-c48ce4b97fb3 7f750dc8-a5e7-4ed1-8248-d66f3a6c7629 g.chr19:46120071T>C ENST00000536630.1 - 17 1942 c.1804A>G c.(1804-1806)Atc>Gtc p.I602V EML2_ENST00000589876.1_Missense_Mutation_p.I455V|EML2_ENST00000587152.1_Missense_Mutation_p.I656V|EML2_ENST00000245925.3_Missense_Mutation_p.I455V NM_001193269.1 NP_001180198.1 O95834 EMAL2_HUMAN echinoderm microtubule associated protein like 2 455 sensory perception of sound|visual perception cytoplasm|intracellular membrane-bounded organelle|microtubule|microtubule associated complex catalytic activity|protein binding NS(1)|breast(2)|cervix(1)|endometrium(1)|kidney(3)|large_intestine(8)|lung(13)|ovary(1)|urinary_tract(1) 31 Ovarian(192;0.179)|all_neural(266;0.224) OV - Ovarian serous cystadenocarcinoma(262;0.00553)|GBM - Glioblastoma multiforme(486;0.131)|Epithelial(262;0.197) TCTGTGTGGATAGCCACCAGG 0.632000 3 17 0 0 1 0 0 IGHG4 3503 broad.mit.edu 37 14 106091309 106091309 + RNA SNP G G A TCGA-WB-A81S-01A-11D-A35I-08 TCGA-WB-A81S-10A-01D-A35G-08 Untested Somatic Phase_I WXS none Illumina GAIIx d64bff8a-a1fc-43a6-b127-c48ce4b97fb3 7f750dc8-a5e7-4ed1-8248-d66f3a6c7629 g.chr14:106091309G>A ENST00000390543.2 - 0 584 ACTCCTTGCCGTTCAGCCAGT 0.592000 5 198 0 0 1 0 0 DPY19L2P2 349152 broad.mit.edu 37 7 102912314 102912314 + RNA SNP T T C TCGA-WB-A81S-01A-11D-A35I-08 TCGA-WB-A81S-10A-01D-A35G-08 Untested Somatic Phase_I WXS none Illumina GAIIx d64bff8a-a1fc-43a6-b127-c48ce4b97fb3 7f750dc8-a5e7-4ed1-8248-d66f3a6c7629 g.chr7:102912314T>C ENST00000312132.4 - 0 2265 AATAATAAAGTCCCTTTTTTA 0.269000 5 27 0 0 1 0 0 MRPS2 51116 broad.mit.edu 37 9 138393756 138393756 + Missense_Mutation SNP T T G rs148092515 TCGA-WB-A81S-01A-11D-A35I-08 TCGA-WB-A81S-10A-01D-A35G-08 Untested Somatic Phase_I WXS none Illumina GAIIx d64bff8a-a1fc-43a6-b127-c48ce4b97fb3 7f750dc8-a5e7-4ed1-8248-d66f3a6c7629 g.chr9:138393756T>G ENST00000371785.1 + 4 445 c.236T>G c.(235-237)tTt>tGt p.F79C MRPS2_ENST00000241600.5_Missense_Mutation_p.F79C|MRPS2_ENST00000488610.1_3'UTR Q9Y399 RT02_HUMAN mitochondrial ribosomal protein S2 79 translation mitochondrion|small ribosomal subunit structural constituent of ribosome large_intestine(2)|lung(1)|prostate(2)|urinary_tract(1) 6 OV - Ovarian serous cystadenocarcinoma(145;1.46e-53)|Epithelial(140;2.04e-47)|all cancers(34;1.23e-42) AAGGAACTGTTTTCCGTGAGA 0.567000 12 69 0 0 1 0 0 ANPEP 290 broad.mit.edu 37 15 90335438 90335438 + Silent SNP C C T TCGA-WB-A81S-01A-11D-A35I-08 TCGA-WB-A81S-10A-01D-A35G-08 Untested Somatic Phase_I WXS none Illumina GAIIx d64bff8a-a1fc-43a6-b127-c48ce4b97fb3 7f750dc8-a5e7-4ed1-8248-d66f3a6c7629 g.chr15:90335438C>T ENST00000300060.6 - 18 2794 c.2481G>A c.(2479-2481)aaG>aaA p.K827K NM_001150.2 NP_001141.2 P15144 AMPN_HUMAN alanyl (membrane) aminopeptidase 827 Metalloprotease. angiogenesis|cell differentiation|interspecies interaction between organisms cytosol|ER-Golgi intermediate compartment|integral to plasma membrane aminopeptidase activity|metallopeptidase activity|receptor activity|zinc ion binding breast(1)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(10)|liver(1)|lung(20)|ovary(3)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(3) 57 Lung NSC(78;0.0221)|all_lung(78;0.0448) BRCA - Breast invasive adenocarcinoma(143;0.0146)|KIRC - Kidney renal clear cell carcinoma(17;0.0286)|Kidney(142;0.0514)|STAD - Stomach adenocarcinoma(125;0.169) Ezetimibe(DB00973) CTGCCCGGAGCTTGTCAGCCT 0.627000 14 52 0 0 1 0 0 IFITM3 10410 broad.mit.edu 37 11 320606 320606 + Missense_Mutation SNP G G T rs149004156 by1000genomes TCGA-WB-A81S-01A-11D-A35I-08 TCGA-WB-A81S-10A-01D-A35G-08 Untested Somatic Phase_I WXS none Illumina GAIIx d64bff8a-a1fc-43a6-b127-c48ce4b97fb3 7f750dc8-a5e7-4ed1-8248-d66f3a6c7629 g.chr11:320606G>T ENST00000399808.4 - 1 444 c.208C>A c.(208-210)Ccc>Acc p.P70T RP11-326C3.11_ENST00000602429.1_RNA|IFITM3_ENST00000602735.1_Missense_Mutation_p.P49T|RP11-326C3.11_ENST00000602756.1_RNA|IFITM3_ENST00000526811.1_Missense_Mutation_p.P49T NM_021034.2 NP_066362.2 Q01628 IFM3_HUMAN interferon induced transmembrane protein 3 70 Interaction with SPP1. response to virus|type I interferon-mediated signaling pathway integral to membrane|plasma membrane p.P70T(3) central_nervous_system(7)|endometrium(7)|kidney(2)|large_intestine(1)|lung(1) 18 all_cancers(49;2e-09)|all_epithelial(84;3.36e-06)|Breast(177;0.000162)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.0538)|all_lung(207;0.0713) all cancers(45;8.85e-28)|Epithelial(43;5.52e-27)|OV - Ovarian serous cystadenocarcinoma(40;1.11e-20)|BRCA - Breast invasive adenocarcinoma(625;3.56e-05)|Lung(200;0.0327)|LUSC - Lung squamous cell carcinoma(625;0.122) AGGCAGCAGGGGTTCATGAAG 0.632000 7 52 3.86212e-05 3.9953e-05 1 1 0 ZNF569 148266 broad.mit.edu 37 19 37904427 37904427 + Missense_Mutation SNP C C T TCGA-WB-A81S-01A-11D-A35I-08 TCGA-WB-A81S-10A-01D-A35G-08 Untested Somatic Phase_I WXS none Illumina GAIIx d64bff8a-a1fc-43a6-b127-c48ce4b97fb3 7f750dc8-a5e7-4ed1-8248-d66f3a6c7629 g.chr19:37904427C>T ENST00000316950.6 - 6 1690 c.1133G>A c.(1132-1134)gGt>gAt p.G378D ZNF569_ENST00000392150.2_Missense_Mutation_p.G219D|ZNF569_ENST00000392149.2_Missense_Mutation_p.G378D NM_152484.2 NP_689697.2 Q5MCW4 ZN569_HUMAN zinc finger protein 569 378 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding breast(5)|endometrium(4)|large_intestine(16)|lung(11)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 40 COAD - Colon adenocarcinoma(19;0.114)|Colorectal(19;0.177) GGGTTTTTCACCTGTATGAAT 0.368000 25 61 0 0 1 0 0 HLA-A 3105 broad.mit.edu 37 6 29910607 29910607 + Silent SNP G G C rs72555397 TCGA-WB-A81S-01A-11D-A35I-08 TCGA-WB-A81S-10A-01D-A35G-08 Untested Somatic Phase_I WXS none Illumina GAIIx d64bff8a-a1fc-43a6-b127-c48ce4b97fb3 7f750dc8-a5e7-4ed1-8248-d66f3a6c7629 g.chr6:29910607G>C ENST00000396634.1 + 4 488 c.147G>C c.(145-147)gtG>gtC p.V49V HLA-A_ENST00000376806.5_Silent_p.V49V|HLA-A_ENST00000376802.2_Silent_p.V49V|HLA-A_ENST00000376809.5_Silent_p.V49V P30443 1A01_HUMAN major histocompatibility complex, class I, A 49 Alpha-1. antigen processing and presentation of peptide antigen via MHC class I|interferon-gamma-mediated signaling pathway|interspecies interaction between organisms|regulation of immune response|type I interferon-mediated signaling pathway integral to plasma membrane|MHC class I protein complex MHC class I receptor activity p.V49V(2) central_nervous_system(2)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(10)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(5)|urinary_tract(2) 30 TCATCGCCGTGGGCTACGTGG 0.692000 Osteosarcoma, Familial Clustering of;Naso-/Oropharyngeal/Laryngeal Cancer, Familial Clustering of;Melanoma, Familial Clustering of;Lichen Sclerosis et Atrophicus, Familial Clustering of Multiple Myeloma(9;0.094) 4 16 0 0 1 0 0 LOC101927209 101927209 broad.mit.edu 37 1 142713774 142713774 + RNA SNP A A G TCGA-WB-A81S-01A-11D-A35I-08 TCGA-WB-A81S-10A-01D-A35G-08 Untested Somatic Phase_I WXS none Illumina GAIIx d64bff8a-a1fc-43a6-b127-c48ce4b97fb3 7f750dc8-a5e7-4ed1-8248-d66f3a6c7629 g.chr1:142713774A>G ENST00000369381.2 - 0 831 CTTTTTCCACATTGTCATTTT 0.284000 4 64 0 0 1 0 0 NOTCH2 4853 broad.mit.edu 37 1 120612003 120612004 + Frame_Shift_Del DEL GG GG - TCGA-WB-A81S-01A-11D-A35I-08 TCGA-WB-A81S-10A-01D-A35G-08 Untested Somatic Phase_I WXS none Illumina GAIIx d64bff8a-a1fc-43a6-b127-c48ce4b97fb3 7f750dc8-a5e7-4ed1-8248-d66f3a6c7629 g.chr1:120612003_120612004delGG ENST00000256646.2 - 1 236_237 c.17_18delCC c.(16-18)cfs p.P6fs NM_024408.3 NP_077719.2 Q04721 NOTC2_HUMAN notch 2 6 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 p.P6fs*27(2) 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) ACAGCAGAGCGGGGCGCAGGGC 0.762 """N, F, Mis""" """marginal zone lymphoma, DLBCL""" Alagille Syndrome 6 10 --- --- --- --- GGT6 124975 broad.mit.edu 37 17 4461978 4461978 + Frame_Shift_Del DEL C C - TCGA-WB-A81S-01A-11D-A35I-08 TCGA-WB-A81S-10A-01D-A35G-08 Untested Somatic Phase_I WXS none Illumina GAIIx d64bff8a-a1fc-43a6-b127-c48ce4b97fb3 7f750dc8-a5e7-4ed1-8248-d66f3a6c7629 g.chr17:4461978delC ENST00000301395.3 - 3 777 c.718delG c.(718-720)atfs p.D240fs GGT6_ENST00000574154.1_Frame_Shift_Del_p.D272fs|GGT6_ENST00000381550.3_Frame_Shift_Del_p.D278fs|GGT6_ENST00000573591.1_Frame_Shift_Del_p.D124fs NM_153338.2 NP_699169.2 Q6P531 GGT6_HUMAN gamma-glutamyltransferase 6 272 glutathione biosynthetic process integral to membrane acyltransferase activity|gamma-glutamyltransferase activity endometrium(2)|large_intestine(1)|lung(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 8 AGTAGAGCATCCCCAGCAAGG 0.667 2 4 --- --- --- ---