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 NACA 4666 broad.mit.edu 37 12 57111912 57111912 + Silent SNP G G A rs2926744 TCGA-DJ-A3UT-01A-11D-A22D-08 TCGA-DJ-A3UT-10A-01D-A22D-08 Untested Somatic Phase_I WXS none Illumina GAIIx b60dea9f-d0f3-4dbc-a1ec-f84242a59705 5f94f80c-57f7-42b3-909e-7b32ed96aa76 g.chr12:57111912G>A ENST00000454682.1 - 3 3683 c.3402C>T c.(3400-3402)ccC>ccT p.P1134P NACA_ENST00000393891.4_Intron|NACA_ENST00000356769.3_Intron|NACA_ENST00000552540.1_Intron|NACA_ENST00000551793.1_Intron|NACA_ENST00000546392.1_Intron|NACA_ENST00000550952.1_Intron|NACA_ENST00000548563.1_Intron NM_001113203.2 NP_001106674.2 Q13765 NACA_HUMAN nascent polypeptide-associated complex alpha subunit 0 interspecies interaction between organisms|protein transport|transcription, DNA-dependent|translation nascent polypeptide-associated complex|nucleus DNA binding breast(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(1)|ovary(2)|upper_aerodigestive_tract(1) 10 CTTTTGGGGAGGGAGGAGTTG 0.642000 T BCL6 NHL 3 47 0 0 0.009096 0 0 C16orf62 57020 broad.mit.edu 37 16 19580877 19580877 + Silent SNP A A C TCGA-DJ-A3UT-01A-11D-A22D-08 TCGA-DJ-A3UT-10A-01D-A22D-08 Untested Somatic Phase_I WXS none Illumina GAIIx b60dea9f-d0f3-4dbc-a1ec-f84242a59705 5f94f80c-57f7-42b3-909e-7b32ed96aa76 g.chr16:19580877A>C ENST00000438132.3 + 3 564 c.516A>C c.(514-516)gcA>gcC p.A172A C16orf62_ENST00000251143.5_Silent_p.A83A|C16orf62_ENST00000542263.1_Silent_p.A172A|C16orf62_ENST00000538853.1_Silent_p.A172A|C16orf62_ENST00000417362.2_Silent_p.A83A NM_020314.5 NP_064710.4 Q7Z3J2 CP062_HUMAN chromosome 16 open reading frame 62 83 integral to membrane breast(2)|central_nervous_system(1)|endometrium(3)|kidney(5)|large_intestine(7)|liver(1)|lung(11)|ovary(1)|prostate(2)|skin(1)|urinary_tract(2) 36 CCATGTTTGCAGCCACTGCTG 0.617000 3 97 0 0 0.009096 0 0 GTF2IRD2P1 0 broad.mit.edu 37 7 72664015 72664015 + RNA SNP C C G TCGA-DJ-A3UT-01A-11D-A22D-08 TCGA-DJ-A3UT-10A-01D-A22D-08 Untested Somatic Phase_I WXS none Illumina GAIIx b60dea9f-d0f3-4dbc-a1ec-f84242a59705 5f94f80c-57f7-42b3-909e-7b32ed96aa76 g.chr7:72664015C>G ENST00000425256.1 - 0 885 NR_002164.1 ATACCACCCCCGGGGCATGCC 0.507000 3 19 0 0 0.021553 0 0 RP11-1166P10.6 0 broad.mit.edu 37 16 32070612 32070612 + RNA SNP A A C TCGA-DJ-A3UT-01A-11D-A22D-08 TCGA-DJ-A3UT-10A-01D-A22D-08 Untested Somatic Phase_I WXS none Illumina GAIIx b60dea9f-d0f3-4dbc-a1ec-f84242a59705 5f94f80c-57f7-42b3-909e-7b32ed96aa76 g.chr16:32070612A>C ENST00000566806.1 - 0 499 GGTCTCCTGCAAGGCTTCTGG 0.552000 3 88 0 0 0.004672 0 0 THEMIS 387357 broad.mit.edu 37 6 128150695 128150695 + Missense_Mutation SNP G G A TCGA-DJ-A3UT-01A-11D-A22D-08 TCGA-DJ-A3UT-10A-01D-A22D-08 Untested Somatic Phase_I WXS none Illumina GAIIx b60dea9f-d0f3-4dbc-a1ec-f84242a59705 5f94f80c-57f7-42b3-909e-7b32ed96aa76 g.chr6:128150695G>A ENST00000368250.1 - 4 896 c.398C>T c.(397-399)aCg>aTg p.T133M THEMIS_ENST00000543064.1_Missense_Mutation_p.T212M|THEMIS_ENST00000537166.1_Missense_Mutation_p.T177M|THEMIS_ENST00000368248.2_Missense_Mutation_p.T212M Q8N1K5 THMS1_HUMAN thymocyte selection associated 212 CABIT 1. negative T cell selection|positive T cell selection|T cell receptor signaling pathway cytoplasm|nucleus breast(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(10)|liver(1)|lung(28)|ovary(2)|pancreas(1)|prostate(1)|skin(4)|stomach(1)|urinary_tract(3) 60 AAATGGATTCGTTGAGTCCCA 0.358000 5 92 0 0 0.021553 0 0 RRN3P2 0 broad.mit.edu 37 16 29110458 29110458 + RNA SNP T T C rs151074589 by1000genomes TCGA-DJ-A3UT-01A-11D-A22D-08 TCGA-DJ-A3UT-10A-01D-A22D-08 Untested Somatic Phase_I WXS none Illumina GAIIx b60dea9f-d0f3-4dbc-a1ec-f84242a59705 5f94f80c-57f7-42b3-909e-7b32ed96aa76 g.chr16:29110458T>C ENST00000564580.1 + 0 1131 p.W375R(25) GAATTTTGAGTGGATAGTGAT 0.328000 3 62 0 0 0.009096 0 0 TSHR 7253 broad.mit.edu 37 14 81610320 81610320 + Missense_Mutation SNP A A G TCGA-DJ-A3UT-01A-11D-A22D-08 TCGA-DJ-A3UT-10A-01D-A22D-08 Untested Somatic Phase_I WXS none Illumina GAIIx b60dea9f-d0f3-4dbc-a1ec-f84242a59705 5f94f80c-57f7-42b3-909e-7b32ed96aa76 g.chr14:81610320A>G ENST00000541158.2 + 11 2240 c.1918A>G c.(1918-1920)Atc>Gtc p.I640V RP11-114N19.3_ENST00000557775.1_RNA|TSHR_ENST00000298171.2_Missense_Mutation_p.I640V P16473 TSHR_HUMAN thyroid stimulating hormone receptor 640 cell-cell signaling|positive regulation of cell proliferation integral to plasma membrane protein binding|thyroid-stimulating hormone receptor activity breast(2)|endometrium(2)|kidney(1)|large_intestine(10)|lung(18)|ovary(6)|prostate(3)|skin(2)|stomach(1)|thyroid(291)|upper_aerodigestive_tract(1) 337 BRCA - Breast invasive adenocarcinoma(234;0.0402) Thyrotropin Alfa(DB00024) CATGGCCCCAATCTCATTCTA 0.463000 Mis toxic thyroid adenoma thyroid adenoma Hereditary nonautoimmune hyperthyroidism; subclinical hypothyroidism 5 191 0 0 0.021553 0 0 PTH2 113091 broad.mit.edu 37 19 49926533 49926533 + Missense_Mutation SNP G G C TCGA-DJ-A3UT-01A-11D-A22D-08 TCGA-DJ-A3UT-10A-01D-A22D-08 Untested Somatic Phase_I WXS none Illumina GAIIx b60dea9f-d0f3-4dbc-a1ec-f84242a59705 5f94f80c-57f7-42b3-909e-7b32ed96aa76 g.chr19:49926533G>C ENST00000270631.1 - 1 165 c.64C>G c.(64-66)Ctg>Gtg p.L22V NM_178449.3 NP_848544.1 Q96A98 TIP39_HUMAN parathyroid hormone 2 22 neuropeptide signaling pathway extracellular region p.L22V(2) endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|skin(1) 6 OV - Ovarian serous cystadenocarcinoma(262;0.0015)|GBM - Glioblastoma multiforme(486;0.044)|Lung(386;0.0785)|LUSC - Lung squamous cell carcinoma(496;0.0836) GGCACCACcagcagcagcagc 0.692000 4 29 0 0 0.009096 0 0 HRNR 388697 broad.mit.edu 37 1 152190916 152190916 + Nonsense_Mutation SNP G G T rs141737935 byFrequency TCGA-DJ-A3UT-01A-11D-A22D-08 TCGA-DJ-A3UT-10A-01D-A22D-08 Untested Somatic Phase_I WXS none Illumina GAIIx b60dea9f-d0f3-4dbc-a1ec-f84242a59705 5f94f80c-57f7-42b3-909e-7b32ed96aa76 g.chr1:152190916G>T ENST00000368801.2 - 3 3264 c.3189C>A c.(3187-3189)taC>taA p.Y1063* FLG-AS1_ENST00000420707.1_RNA|FLG-AS1_ENST00000593011.1_RNA NM_001009931.1 NP_001009931.1 Q86YZ3 HORN_HUMAN hornerin 1063 keratinization calcium ion binding|protein binding autonomic_ganglia(1)|breast(6)|central_nervous_system(2)|cervix(2)|endometrium(22)|haematopoietic_and_lymphoid_tissue(1)|kidney(11)|large_intestine(19)|liver(1)|lung(84)|ovary(5)|prostate(6)|skin(12)|stomach(9)|upper_aerodigestive_tract(5)|urinary_tract(6) 192 Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127) LUSC - Lung squamous cell carcinoma(543;0.206) CATGTTGACCGTAGCCAGAGG 0.562000 17 411 2.27525e-19 4.29048e-19 0.021523 1 0 ZNF346 23567 broad.mit.edu 37 5 176468158 176468158 + Silent SNP C C T TCGA-DJ-A3UT-01A-11D-A22D-08 TCGA-DJ-A3UT-10A-01D-A22D-08 Untested Somatic Phase_I WXS none Illumina GAIIx b60dea9f-d0f3-4dbc-a1ec-f84242a59705 5f94f80c-57f7-42b3-909e-7b32ed96aa76 g.chr5:176468158C>T ENST00000503039.1 + 3 286 c.282C>T c.(280-282)ctC>ctT p.L94L ZNF346_ENST00000261948.4_Silent_p.L94L|ZNF346_ENST00000503425.1_Silent_p.L69L|ZNF346_ENST00000358149.3_Silent_p.L69L|ZNF346_ENST00000512315.1_Intron|ZNF346_ENST00000506693.1_Intron|ZNF346_ENST00000511834.1_Silent_p.L69L Q9UL40 ZN346_HUMAN zinc finger protein 346 69 cytoplasm|nucleolus double-stranded RNA binding|zinc ion binding endometrium(1)|kidney(2)|large_intestine(4)|lung(5)|prostate(1)|urinary_tract(1) 14 all_cancers(89;6.3e-05)|Renal(175;0.000269)|Lung NSC(126;0.00476)|all_lung(126;0.00806) all_neural(177;0.00409)|Medulloblastoma(196;0.00498)|all_hematologic(541;0.21) Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178) ACCAATGTCTCTTCACCAACA 0.453000 34 221 0 0 0.023175 0 0 GRIA1 0 broad.mit.edu 37 5 153026644 153026644 + Missense_Mutation SNP G G A rs149549228 TCGA-DJ-A3UT-01A-11D-A22D-08 TCGA-DJ-A3UT-10A-01D-A22D-08 Untested Somatic Phase_I WXS none Illumina GAIIx b60dea9f-d0f3-4dbc-a1ec-f84242a59705 5f94f80c-57f7-42b3-909e-7b32ed96aa76 g.chr5:153026644G>A ENST00000285900.5 + 3 720 c.377G>A c.(376-378)cGc>cAc p.R126H GRIA1_ENST00000518142.1_Intron|GRIA1_ENST00000518862.1_3'UTR|GRIA1_ENST00000518783.1_Missense_Mutation_p.R136H|GRIA1_ENST00000521843.2_Missense_Mutation_p.R57H|GRIA1_ENST00000448073.4_Missense_Mutation_p.R136H|GRIA1_ENST00000340592.5_Missense_Mutation_p.R126H NM_000827.3|NM_001258019.1 NP_000818.2|NP_001244948.1 P42261 GRIA1_HUMAN glutamate receptor, ionotropic, AMPA 1 126 synaptic transmission alpha-amino-3-hydroxy-5-methyl-4-isoxazolepropionic acid selective glutamate receptor complex|cell junction|dendritic spine|endocytic vesicle membrane|endoplasmic reticulum membrane|neuronal cell body|postsynaptic density|postsynaptic membrane alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity|extracellular-glutamate-gated ion channel activity|kainate selective glutamate receptor activity|PDZ domain binding NS(1)|breast(4)|endometrium(7)|kidney(3)|large_intestine(24)|liver(2)|lung(23)|ovary(4)|pancreas(1)|prostate(5)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(2) 81 Medulloblastoma(196;0.0391)|all_neural(177;0.16)|all_hematologic(541;0.21) Kidney(363;0.000173)|KIRC - Kidney renal clear cell carcinoma(527;0.000785) Desflurane(DB01189)|Enflurane(DB00228)|Halothane(DB01159)|Isoflurane(DB00753)|L-Glutamic Acid(DB00142)|Methoxyflurane(DB01028)|Sevoflurane(DB01236) CTTCAGCTGCGCCCTGAACTG 0.507000 36 127 0 0 0.027894 0 0 NRAS 4893 broad.mit.edu 37 1 115256529 115256529 + Missense_Mutation SNP T T C rs11554290 TCGA-DJ-A3UT-01A-11D-A22D-08 TCGA-DJ-A3UT-10A-01D-A22D-08 Untested Somatic Phase_I WXS none Illumina GAIIx b60dea9f-d0f3-4dbc-a1ec-f84242a59705 5f94f80c-57f7-42b3-909e-7b32ed96aa76 g.chr1:115256529T>C ENST00000369535.4 - 3 435 c.182A>G c.(181-183)cAa>cGa p.Q61R NM_002524.4 NP_002515.1 P01111 RASN_HUMAN neuroblastoma RAS viral (v-ras) oncogene homolog 61 Q -> K (in neuroblastoma cell).|Q -> R (in lung carcinoma cell and melanoma; dbSNP:rs11554290). activation of MAPKK activity|axon guidance|blood coagulation|epidermal growth factor receptor signaling pathway|insulin receptor signaling pathway|leukocyte migration|nerve growth factor receptor signaling pathway|Ras protein signal transduction Golgi membrane|plasma membrane GTP binding|GTPase activity p.Q61R(817)|p.Q61L(175)|p.Q61P(23)|p.Q61K(1) NS(134)|adrenal_gland(9)|autonomic_ganglia(9)|biliary_tract(6)|bone(1)|breast(9)|central_nervous_system(10)|cervix(2)|endometrium(11)|eye(3)|haematopoietic_and_lymphoid_tissue(1115)|kidney(3)|large_intestine(105)|liver(10)|lung(42)|meninges(2)|ovary(7)|pancreas(5)|prostate(8)|skin(1144)|soft_tissue(37)|stomach(5)|testis(8)|thyroid(359)|upper_aerodigestive_tract(28)|urinary_tract(13) 3085 all_epithelial(7;5.11e-05)|all_lung(7;0.000179)|Lung NSC(6;0.00195)|Lung SC(450;0.211) all_cancers(81;4.64e-07)|all_epithelial(167;4.2e-07)|all_lung(203;9.97e-06)|Lung NSC(69;1.74e-05) Lung(183;0.0234)|Colorectal(144;0.0686)|COAD - Colon adenocarcinoma(174;0.111)|all cancers(265;0.112)|Epithelial(280;0.124)|LUSC - Lung squamous cell carcinoma(189;0.133) GTACTCTTCTTGTCCAGCTGT 0.458000 Q61L(C3A_LIVER)|Q61L(HEPG2_LIVER)|Q61L(HL60_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|Q61L(IPC298_SKIN)|Q61L(KMS21BM_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|Q61L(MELJUSO_SKIN)|Q61L(MHHES1_BONE)|Q61L(MOLP8_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|Q61L(OCIAML3_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|Q61P(TF1_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|Q61R(HT1197_URINARY_TRACT)|Q61R(KMS27_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|Q61R(KU1919_URINARY_TRACT)|Q61R(NCIH2347_LUNG)|Q61R(ONS76_CENTRAL_NERVOUS_SYSTEM)|Q61R(SKMEL2_SKIN)|Q61R(SW1271_LUNG)|Q61R(TT2609C02_THYROID) 50 Mis """melanoma, MM, AML, thyroid""" Noonan syndrome TSP Lung(23;0.16)|Multiple Myeloma(1;<1E-6) 96 133 0 0 0.014410 0 0 AMBRA1 55626 broad.mit.edu 37 11 46455150 46455150 + Silent SNP G G A TCGA-DJ-A3UT-01A-11D-A22D-08 TCGA-DJ-A3UT-10A-01D-A22D-08 Untested Somatic Phase_I WXS none Illumina GAIIx b60dea9f-d0f3-4dbc-a1ec-f84242a59705 5f94f80c-57f7-42b3-909e-7b32ed96aa76 g.chr11:46455150G>A ENST00000458649.2 - 14 3268 c.2850C>T c.(2848-2850)tcC>tcT p.S950S AMBRA1_ENST00000426438.1_Silent_p.S921S|AMBRA1_ENST00000534300.1_Silent_p.S890S|AMBRA1_ENST00000533727.1_Silent_p.S831S|AMBRA1_ENST00000298834.3_Silent_p.S890S|AMBRA1_ENST00000314845.3_Silent_p.S860S|AMBRA1_ENST00000528950.1_Silent_p.S921S Q9C0C7 AMRA1_HUMAN autophagy/beclin-1 regulator 1 950 autophagy|cell differentiation|nervous system development autophagic vacuole|cytoplasmic vesicle NS(1)|breast(3)|central_nervous_system(1)|endometrium(10)|kidney(2)|large_intestine(6)|lung(10)|ovary(2)|prostate(1)|skin(1)|urinary_tract(2) 39 GBM - Glioblastoma multiforme(35;0.0435)|Lung(87;0.182) TGCCCATTGGGGACAGGCTCA 0.532000 3 60 0 0 0.004672 0 0 C4A 720 broad.mit.edu 37 6 31964267 31964267 + Missense_Mutation SNP G G A TCGA-DJ-A3UT-01A-11D-A22D-08 TCGA-DJ-A3UT-10A-01D-A22D-08 Untested Somatic Phase_I WXS none Illumina GAIIx b60dea9f-d0f3-4dbc-a1ec-f84242a59705 5f94f80c-57f7-42b3-909e-7b32ed96aa76 g.chr6:31964267G>A ENST00000428956.2 + 28 3650 c.3566G>A c.(3565-3567)gGt>gAt p.G1189D C4A_ENST00000498271.1_Missense_Mutation_p.G1189D NM_007293.2 NP_009224.2 complement component 4A (Rodgers blood group) GGGCTCCTGGGTGCCCACGCA 0.602000 7 110 0 0 0.004482 0 0 MLLT3 4300 broad.mit.edu 37 9 20414343 20414343 + Silent SNP A A G TCGA-DJ-A3UT-01A-11D-A22D-08 TCGA-DJ-A3UT-10A-01D-A22D-08 Untested Somatic Phase_I WXS none Illumina GAIIx b60dea9f-d0f3-4dbc-a1ec-f84242a59705 5f94f80c-57f7-42b3-909e-7b32ed96aa76 g.chr9:20414343A>G ENST00000380338.4 - 5 787 c.501T>C c.(499-501)agT>agC p.S167S MLLT3_ENST00000475957.1_5'UTR|MLLT3_ENST00000429426.2_Silent_p.S164S|MLLT3_ENST00000355930.6_5'UTR NM_004529.2 NP_004520.2 P42568 AF9_HUMAN myeloid/lymphoid or mixed-lineage leukemia (trithorax homolog, Drosophila); translocated to, 3 167 Poly-Ser. regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus protein binding p.S167S(19) central_nervous_system(1)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(6)|lung(24)|ovary(1)|prostate(4)|skin(1)|urinary_tract(7) 66 GBM - Glioblastoma multiforme(3;4.35e-105)|Lung(42;3.48e-06)|LUSC - Lung squamous cell carcinoma(42;7.92e-05) tgctgctgctactgctgctgc 0.532000 T MLL ALL 3 32 0 0 0.009096 0 0 KCNA5 3741 broad.mit.edu 37 12 5154190 5154190 + Missense_Mutation SNP G G A TCGA-DJ-A3UT-01A-11D-A22D-08 TCGA-DJ-A3UT-10A-01D-A22D-08 Untested Somatic Phase_I WXS none Illumina GAIIx b60dea9f-d0f3-4dbc-a1ec-f84242a59705 5f94f80c-57f7-42b3-909e-7b32ed96aa76 g.chr12:5154190G>A ENST00000252321.3 + 1 1106 c.877G>A c.(877-879)Gcg>Acg p.A293T NM_002234.3 NP_002225.2 P22460 KCNA5_HUMAN potassium voltage-gated channel, shaker-related subfamily, member 5 293 Golgi apparatus|voltage-gated potassium channel complex delayed rectifier potassium channel activity NS(1)|breast(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|liver(1)|lung(21)|ovary(5)|prostate(2)|upper_aerodigestive_tract(2) 52 CCAGCCTCCCGCGCCCGCCCC 0.687000 4 83 0 0 0.009096 0 0 PLEKHM2 23207 broad.mit.edu 37 1 16057150 16057150 + Missense_Mutation SNP C C G TCGA-DJ-A3UT-01A-11D-A22D-08 TCGA-DJ-A3UT-10A-01D-A22D-08 Untested Somatic Phase_I WXS none Illumina GAIIx b60dea9f-d0f3-4dbc-a1ec-f84242a59705 5f94f80c-57f7-42b3-909e-7b32ed96aa76 g.chr1:16057150C>G ENST00000375799.3 + 15 2559 c.2332C>G c.(2332-2334)Ctg>Gtg p.L778V RP11-288I21.1_ENST00000453804.1_RNA|PLEKHM2_ENST00000375793.2_Missense_Mutation_p.L758V|PLEKHM2_ENST00000477849.1_3'UTR NM_015164.2 NP_055979.2 Q8IWE5 PKHM2_HUMAN pleckstrin homology domain containing, family M (with RUN domain) member 2 778 Interaction with sifA.|PH. Golgi organization cytoplasm kinesin binding cervix(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(5)|ovary(2)|upper_aerodigestive_tract(1) 12 Colorectal(325;0.000259)|Breast(348;0.000278)|Lung NSC(340;0.000419)|Renal(390;0.000518)|all_lung(284;0.00057)|Ovarian(437;0.0129)|Myeloproliferative disorder(586;0.0255) UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;9.18e-07)|COAD - Colon adenocarcinoma(227;4.5e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000133)|KIRC - Kidney renal clear cell carcinoma(229;0.00262)|STAD - Stomach adenocarcinoma(313;0.00774)|READ - Rectum adenocarcinoma(331;0.0657) AGAAGGCATGCTGCACTACAA 0.652000 8 15 0 0 0.010729 0 0 CERS2 29956 broad.mit.edu 37 1 150940318 150940318 + Missense_Mutation SNP G G A TCGA-DJ-A3UT-01A-11D-A22D-08 TCGA-DJ-A3UT-10A-01D-A22D-08 Untested Somatic Phase_I WXS none Illumina GAIIx b60dea9f-d0f3-4dbc-a1ec-f84242a59705 5f94f80c-57f7-42b3-909e-7b32ed96aa76 g.chr1:150940318G>A ENST00000271688.6 - 5 832 c.446C>T c.(445-447)gCc>gTc p.A149V CERS2_ENST00000368954.5_Missense_Mutation_p.A149V|CERS2_ENST00000345896.4_5'UTR|CERS2_ENST00000561294.1_Missense_Mutation_p.A140V NM_181746.3 NP_859530.1 Q96G23 CERS2_HUMAN ceramide synthase 2 149 TLC. endoplasmic reticulum membrane|integral to membrane|nuclear membrane protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|sphingosine N-acyltransferase activity GGCCATGCCGGCAATGAAGGC 0.542000 4 162 0 0 0.021553 0 0 VGLL4 9686 broad.mit.edu 37 3 11684953 11684953 + Missense_Mutation SNP A A C TCGA-DJ-A3UT-01A-11D-A22D-08 TCGA-DJ-A3UT-10A-01D-A22D-08 Untested Somatic Phase_I WXS none Illumina GAIIx b60dea9f-d0f3-4dbc-a1ec-f84242a59705 5f94f80c-57f7-42b3-909e-7b32ed96aa76 g.chr3:11684953A>C ENST00000430365.2 - 1 445 c.40T>G c.(40-42)Ttg>Gtg p.L14V VGLL4_ENST00000273038.3_Intron|VGLL4_ENST00000404339.1_Intron NM_001128219.1 NP_001121691.1 Q14135 VGLL4_HUMAN vestigial like 4 (Drosophila) 0 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus NS(1)|endometrium(1)|large_intestine(1)|ovary(1)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 10 LUSC - Lung squamous cell carcinoma(1;0.089)|Lung(1;0.111) ATCTTGTCCAAGTACTGATAG 0.438000 35 199 0 0 0.009718 0 0 RBMX2 51634 broad.mit.edu 37 X 129546577 129546577 + Silent SNP C C T TCGA-DJ-A3UT-01A-11D-A22D-08 TCGA-DJ-A3UT-10A-01D-A22D-08 Untested Somatic Phase_I WXS none Illumina GAIIx b60dea9f-d0f3-4dbc-a1ec-f84242a59705 5f94f80c-57f7-42b3-909e-7b32ed96aa76 g.chrX:129546577C>T ENST00000305536.6 + 6 788 c.724C>T c.(724-726)Ctg>Ttg p.L242L NM_016024.2 NP_057108.2 Q9Y388 RBMX2_HUMAN RNA binding motif protein, X-linked 2 242 Lys-rich. nucleotide binding|RNA binding breast(4)|endometrium(2)|large_intestine(1)|liver(4)|lung(5)|ovary(1)|prostate(1)|urinary_tract(1) 19 AGAGAGGGAGCTGAAGAAGGA 0.572000 3 41 0 0 0.009096 0 0 GRIA2 2891 broad.mit.edu 37 4 158142928 158142928 + Missense_Mutation SNP G G C TCGA-DJ-A3UT-01A-11D-A22D-08 TCGA-DJ-A3UT-10A-01D-A22D-08 Untested Somatic Phase_I WXS none Illumina GAIIx b60dea9f-d0f3-4dbc-a1ec-f84242a59705 5f94f80c-57f7-42b3-909e-7b32ed96aa76 g.chr4:158142928G>C ENST00000296526.7 + 2 523 c.198G>C c.(196-198)gaG>gaC p.E66D GRIA2_ENST00000264426.9_Missense_Mutation_p.E66D|GRIA2_ENST00000504801.1_Intron|GRIA2_ENST00000507898.1_Missense_Mutation_p.E19D|GRIA2_ENST00000449365.1_Missense_Mutation_p.E19D|GRIA2_ENST00000393815.2_Missense_Mutation_p.E19D NM_000826.3 NP_000817.2 P42262 GRIA2_HUMAN glutamate receptor, ionotropic, AMPA 2 66 synaptic transmission alpha-amino-3-hydroxy-5-methyl-4-isoxazolepropionic acid selective glutamate receptor complex|cell junction|endocytic vesicle membrane|endoplasmic reticulum membrane|postsynaptic membrane alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity|extracellular-glutamate-gated ion channel activity|kainate selective glutamate receptor activity NS(1)|breast(2)|central_nervous_system(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(16)|liver(2)|lung(32)|ovary(3)|prostate(3)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(1) 79 all_hematologic(180;0.24) Renal(120;0.0458) COAD - Colon adenocarcinoma(41;0.0294) L-Glutamic Acid(DB00142) ACAATTTGGAGGTGGCAAACA 0.502000 11 109 0 0 0.028581 0 0 PLA2G5 5322 broad.mit.edu 37 1 20412681 20412681 + Missense_Mutation SNP G G T TCGA-DJ-A3UT-01A-11D-A22D-08 TCGA-DJ-A3UT-10A-01D-A22D-08 Untested Somatic Phase_I WXS none Illumina GAIIx b60dea9f-d0f3-4dbc-a1ec-f84242a59705 5f94f80c-57f7-42b3-909e-7b32ed96aa76 g.chr1:20412681G>T ENST00000375108.3 + 3 414 c.146G>T c.(145-147)gGc>gTc p.G49V PLA2G5_ENST00000486277.1_3'UTR NM_000929.2 NP_000920.1 P39877 PA2G5_HUMAN phospholipase A2, group V 49 lipid catabolic process extracellular region calcium ion binding|calcium-dependent phospholipase A2 activity NS(1)|large_intestine(1)|lung(8)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1) 14 Colorectal(325;3.46e-05)|Renal(390;0.000147)|all_lung(284;0.000249)|Lung NSC(340;0.000287)|Breast(348;0.000812)|Ovarian(437;0.00328)|Myeloproliferative disorder(586;0.0255) UCEC - Uterine corpus endometrioid carcinoma (279;0.0182)|COAD - Colon adenocarcinoma(152;1.22e-05)|BRCA - Breast invasive adenocarcinoma(304;8.15e-05)|Kidney(64;0.000184)|GBM - Glioblastoma multiforme(114;0.00089)|KIRC - Kidney renal clear cell carcinoma(64;0.0027)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0652) TGTTACTGCGGCTGGGGCGGC 0.552000 7 83 0.00198382 0.0035387 0.001984 1 0 ADAMTS7 11173 broad.mit.edu 37 15 79051880 79051880 + Silent SNP C C T rs1045121 by1000genomes TCGA-DJ-A3UT-01A-11D-A22D-08 TCGA-DJ-A3UT-10A-01D-A22D-08 Untested Somatic Phase_I WXS none Illumina GAIIx b60dea9f-d0f3-4dbc-a1ec-f84242a59705 5f94f80c-57f7-42b3-909e-7b32ed96aa76 g.chr15:79051880C>T ENST00000388820.4 - 24 5154 c.4944G>A c.(4942-4944)acG>acA p.T1648T NM_014272.3 NP_055087.2 Q9UKP4 ATS7_HUMAN ADAM metallopeptidase with thrombospondin type 1 motif, 7 1648 PLAC. proteolysis proteinaceous extracellular matrix metalloendopeptidase activity|zinc ion binding p.T1648T(5) NS(1)|breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(2)|lung(23)|ovary(1)|prostate(8)|skin(9) 54 GTAGGCGCAGCGTCTCGCAGA 0.697000 3 16 0 0 0.014758 0 0 PLA2G5 5322 broad.mit.edu 37 1 20412680 20412680 + Missense_Mutation SNP G G C TCGA-DJ-A3UT-01A-11D-A22D-08 TCGA-DJ-A3UT-10A-01D-A22D-08 Untested Somatic Phase_I WXS none Illumina GAIIx b60dea9f-d0f3-4dbc-a1ec-f84242a59705 5f94f80c-57f7-42b3-909e-7b32ed96aa76 g.chr1:20412680G>C ENST00000375108.3 + 3 413 c.145G>C c.(145-147)Ggc>Cgc p.G49R PLA2G5_ENST00000486277.1_3'UTR NM_000929.2 NP_000920.1 P39877 PA2G5_HUMAN phospholipase A2, group V 49 lipid catabolic process extracellular region calcium ion binding|calcium-dependent phospholipase A2 activity p.G49S(1) NS(1)|large_intestine(1)|lung(8)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1) 14 Colorectal(325;3.46e-05)|Renal(390;0.000147)|all_lung(284;0.000249)|Lung NSC(340;0.000287)|Breast(348;0.000812)|Ovarian(437;0.00328)|Myeloproliferative disorder(586;0.0255) UCEC - Uterine corpus endometrioid carcinoma (279;0.0182)|COAD - Colon adenocarcinoma(152;1.22e-05)|BRCA - Breast invasive adenocarcinoma(304;8.15e-05)|Kidney(64;0.000184)|GBM - Glioblastoma multiforme(114;0.00089)|KIRC - Kidney renal clear cell carcinoma(64;0.0027)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0652) CTGTTACTGCGGCTGGGGCGG 0.552000 6 84 0 0 0.021553 0 0 COX7B 1349 broad.mit.edu 37 X 77155051 77155051 + Translation_Start_Site SNP A A G TCGA-DJ-A3UT-01A-11D-A22D-08 TCGA-DJ-A3UT-10A-01D-A22D-08 Untested Somatic Phase_I WXS none Illumina GAIIx b60dea9f-d0f3-4dbc-a1ec-f84242a59705 5f94f80c-57f7-42b3-909e-7b32ed96aa76 g.chrX:77155051A>G ENST00000481445.1 + 1 117 c.1A>G c.(1-3)Atg>Gtg p.M1V COX7B_ENST00000475465.1_3'UTR NM_001866.2 NP_001857.1 P24311 COX7B_HUMAN cytochrome c oxidase subunit VIIb 1 respiratory electron transport chain integral to membrane|mitochondrial respiratory chain cytochrome-c oxidase activity endometrium(2) 2 CACCTTCACGATGTTTCCCTT 0.443000 8 50 0 0 0.008291 0 0 EZH1 2145 broad.mit.edu 37 17 40865386 40865386 + Missense_Mutation SNP T T A TCGA-DJ-A3UT-01A-11D-A22D-08 TCGA-DJ-A3UT-10A-01D-A22D-08 Untested Somatic Phase_I WXS none Illumina GAIIx b60dea9f-d0f3-4dbc-a1ec-f84242a59705 5f94f80c-57f7-42b3-909e-7b32ed96aa76 g.chr17:40865386T>A ENST00000428826.2 - 11 1166 c.1045A>T c.(1045-1047)Atg>Ttg p.M349L EZH1_ENST00000590078.1_Missense_Mutation_p.M279L|EZH1_ENST00000585893.1_Missense_Mutation_p.M309L|EZH1_ENST00000435174.1_Missense_Mutation_p.M210L|EZH1_ENST00000592743.1_Missense_Mutation_p.M349L|EZH1_ENST00000415827.2_Missense_Mutation_p.M340L Q92800 EZH1_HUMAN enhancer of zeste homolog 1 (Drosophila) 349 anatomical structure morphogenesis|regulation of transcription, DNA-dependent|transcription, DNA-dependent ESC/E(Z) complex chromatin binding|DNA binding breast(1)|endometrium(4)|large_intestine(6)|lung(9)|ovary(3)|prostate(1)|skin(1)|urinary_tract(2) 27 Breast(137;0.00104) BRCA - Breast invasive adenocarcinoma(366;0.0784) TTGTGGAGCATGGCATACTCC 0.522000 6 136 0 0 0.003080 0 0 RAPH1 65059 broad.mit.edu 37 2 204322299 204322299 + Missense_Mutation SNP T T C TCGA-DJ-A3UT-01A-11D-A22D-08 TCGA-DJ-A3UT-10A-01D-A22D-08 Untested Somatic Phase_I WXS none Illumina GAIIx b60dea9f-d0f3-4dbc-a1ec-f84242a59705 5f94f80c-57f7-42b3-909e-7b32ed96aa76 g.chr2:204322299T>C ENST00000319170.5 - 8 1411 c.1112A>G c.(1111-1113)aAa>aGa p.K371R RAPH1_ENST00000453034.1_Missense_Mutation_p.K423R|RAPH1_ENST00000439222.1_Missense_Mutation_p.K396R|RAPH1_ENST00000457812.1_Missense_Mutation_p.K371R|RAPH1_ENST00000374488.2_Missense_Mutation_p.K396R|RAPH1_ENST00000374489.2_Missense_Mutation_p.K398R|RAPH1_ENST00000419464.1_Missense_Mutation_p.K371R|RAPH1_ENST00000423104.1_Missense_Mutation_p.K398R|RAPH1_ENST00000418114.1_Missense_Mutation_p.K371R|RAPH1_ENST00000374493.3_Missense_Mutation_p.K423R|RAPH1_ENST00000308091.4_Missense_Mutation_p.K423R NM_213589.1 NP_998754.1 Q70E73 RAPH1_HUMAN Ras association (RalGDS/AF-6) and pleckstrin homology domains 1 371 cell-matrix adhesion|signal transduction cytoplasm|cytoskeleton|filopodium|lamellipodium|nucleus|plasma membrane breast(5)|central_nervous_system(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(7)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 32 AGCTGTTTCTTTTTTCCCCAA 0.373000 3 132 0 0 0.004672 0 0 LL22NC03-80A10.6 0 broad.mit.edu 37 22 22661312 22661312 + RNA SNP T T C rs3855711 TCGA-DJ-A3UT-01A-11D-A22D-08 TCGA-DJ-A3UT-10A-01D-A22D-08 Untested Somatic Phase_I WXS none Illumina GAIIx b60dea9f-d0f3-4dbc-a1ec-f84242a59705 5f94f80c-57f7-42b3-909e-7b32ed96aa76 g.chr22:22661312T>C ENST00000426066.1 + 0 360 NR_027293.1 TGAATTTGTGTAGAACTTTGA 0.473000 3 84 0 0 0.004482 0 0 ADAMTS7 11173 broad.mit.edu 37 15 79051886 79051886 + Silent SNP G G A TCGA-DJ-A3UT-01A-11D-A22D-08 TCGA-DJ-A3UT-10A-01D-A22D-08 Untested Somatic Phase_I WXS none Illumina GAIIx b60dea9f-d0f3-4dbc-a1ec-f84242a59705 5f94f80c-57f7-42b3-909e-7b32ed96aa76 g.chr15:79051886G>A ENST00000388820.4 - 24 5148 c.4938C>T c.(4936-4938)tgC>tgT p.C1646C NM_014272.3 NP_055087.2 Q9UKP4 ATS7_HUMAN ADAM metallopeptidase with thrombospondin type 1 motif, 7 1646 PLAC. proteolysis proteinaceous extracellular matrix metalloendopeptidase activity|zinc ion binding p.C1646C(4) NS(1)|breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(2)|lung(23)|ovary(1)|prostate(8)|skin(9) 54 GCAGCGTCTCGCAGAACCCGA 0.701000 3 14 0 0 0.014758 0 0 ZNF608 57507 broad.mit.edu 37 5 123980144 123980144 + Missense_Mutation SNP T T C rs141350098 TCGA-DJ-A3UT-01A-11D-A22D-08 TCGA-DJ-A3UT-10A-01D-A22D-08 Untested Somatic Phase_I WXS none Illumina GAIIx b60dea9f-d0f3-4dbc-a1ec-f84242a59705 5f94f80c-57f7-42b3-909e-7b32ed96aa76 g.chr5:123980144T>C ENST00000306315.5 - 5 4351 c.3916A>G c.(3916-3918)Atg>Gtg p.M1306V ZNF608_ENST00000504926.1_Missense_Mutation_p.M879V NM_020747.2 NP_065798.2 Q9ULD9 ZN608_HUMAN zinc finger protein 608 1306 intracellular zinc ion binding breast(4)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(8)|lung(12)|ovary(3)|skin(6)|urinary_tract(1) 46 all_cancers(142;0.186)|Prostate(80;0.081) KIRC - Kidney renal clear cell carcinoma(527;0.159)|Kidney(363;0.221) OV - Ovarian serous cystadenocarcinoma(64;0.00126)|Epithelial(69;0.00238)|all cancers(49;0.00783) CTCTCCTCCATTGATTGAGAA 0.478000 6 317 0 0 0.021553 0 0 RPTN 126638 broad.mit.edu 37 1 152128385 152128388 + Frame_Shift_Del DEL TGTC TGTC - TCGA-DJ-A3UT-01A-11D-A22D-08 TCGA-DJ-A3UT-10A-01D-A22D-08 Untested Somatic Phase_I WXS none Illumina GAIIx b60dea9f-d0f3-4dbc-a1ec-f84242a59705 5f94f80c-57f7-42b3-909e-7b32ed96aa76 g.chr1:152128385_152128388delTGTC ENST00000316073.3 - 3 1251_1254 c.1187_1190delGACA c.(1186-1191)aafs p.RQ396fs NM_001122965.1 NP_001116437.1 Q6XPR3 RPTN_HUMAN repetin 396 Gln-rich. proteinaceous extracellular matrix calcium ion binding breast(2)|central_nervous_system(1)|endometrium(14)|kidney(2)|large_intestine(1)|lung(32)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1) 59 ACTTTGGTCTTGTCTGTCTGTCTG 0.505 7 964 --- --- --- --- AC007040.8 0 broad.mit.edu 37 2 71283122 71283123 + RNA INS - - T rs35074164 TCGA-DJ-A3UT-01A-11D-A22D-08 TCGA-DJ-A3UT-10A-01D-A22D-08 Untested Somatic Phase_I WXS none Illumina GAIIx b60dea9f-d0f3-4dbc-a1ec-f84242a59705 5f94f80c-57f7-42b3-909e-7b32ed96aa76 g.chr2:71283122_71283123insT ENST00000434990.1 - 0 61 GGCACCACCCCCAGGAGTGGTG 0.530 4 5 --- --- --- --- MED12L 116931 broad.mit.edu 37 3 151148114 151148116 + In_Frame_Del DEL CAG CAG - TCGA-DJ-A3UT-01A-11D-A22D-08 TCGA-DJ-A3UT-10A-01D-A22D-08 Untested Somatic Phase_I WXS none Illumina GAIIx b60dea9f-d0f3-4dbc-a1ec-f84242a59705 5f94f80c-57f7-42b3-909e-7b32ed96aa76 g.chr3:151148114_151148116delCAG ENST00000474524.1 + 42 6369_6371 c.6331_6333delCAG c.(6331-6333)del p.Q2115del MED12L_ENST00000273432.4_In_Frame_Del_p.Q1779del NM_053002.4 NP_443728.3 Q86YW9 MD12L_HUMAN mediator complex subunit 12-like 2115 Gln-rich. regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent mediator complex p.Q2111E(1) NS(1)|breast(3)|central_nervous_system(3)|cervix(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|kidney(9)|large_intestine(27)|lung(50)|ovary(6)|prostate(3)|skin(4)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(1) 128 LUSC - Lung squamous cell carcinoma(72;0.0394)|Lung(72;0.0517) GCAGCAGACCCAGCAGCAGCAGC 0.527 8 140 --- --- --- --- TG 7038 broad.mit.edu 37 8 133899011 133899012 + Frame_Shift_Del DEL AG AG - TCGA-DJ-A3UT-01A-11D-A22D-08 TCGA-DJ-A3UT-10A-01D-A22D-08 Untested Somatic Phase_I WXS none Illumina GAIIx b60dea9f-d0f3-4dbc-a1ec-f84242a59705 5f94f80c-57f7-42b3-909e-7b32ed96aa76 g.chr8:133899011_133899012delAG ENST00000220616.4 + 9 1434_1435 c.1394_1395delAG c.(1393-1395)afs p.K465fs TG_ENST00000377869.1_Frame_Shift_Del_p.K465fs NM_003235.4 NP_003226.4 P01266 THYG_HUMAN thyroglobulin 465 hormone biosynthetic process|signal transduction|thyroid gland development|thyroid hormone generation extracellular space hormone activity NS(1)|breast(11)|central_nervous_system(3)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(34)|liver(2)|lung(59)|ovary(9)|pancreas(2)|prostate(6)|skin(7)|stomach(4)|upper_aerodigestive_tract(4)|urinary_tract(8) 168 Ovarian(258;0.00438)|Acute lymphoblastic leukemia(118;0.155) Myeloproliferative disorder(644;0.00878)|Acute lymphoblastic leukemia(644;0.0559)|Breast(495;0.0735) BRCA - Breast invasive adenocarcinoma(115;0.000701) KIRC - Kidney renal clear cell carcinoma(542;0.0546) ACCAACCCAAAGAGACTCCAGC 0.465 10 112 --- --- --- --- DUSP8 1850 broad.mit.edu 37 11 1577819 1577820 + Frame_Shift_Del DEL CG CG - rs61747093 TCGA-DJ-A3UT-01A-11D-A22D-08 TCGA-DJ-A3UT-10A-01D-A22D-08 Untested Somatic Phase_I WXS none Illumina GAIIx b60dea9f-d0f3-4dbc-a1ec-f84242a59705 5f94f80c-57f7-42b3-909e-7b32ed96aa76 g.chr11:1577819_1577820delCG ENST00000397374.3 - 7 1933_1934 c.1806_1807delCG c.(1804-1809)cggcfs p.RG602fs DUSP8_ENST00000331588.4_Frame_Shift_Del_p.RG602fs NM_004420.2 NP_004411.2 Q13202 DUS8_HUMAN dual specificity phosphatase 8 602 inactivation of MAPK activity cytoplasm|nucleus MAP kinase tyrosine/serine/threonine phosphatase activity|protein tyrosine phosphatase activity endometrium(1)|lung(2)|prostate(1)|urinary_tract(1) 5 all_epithelial(84;0.000134)|Ovarian(85;0.0014)|Breast(177;0.00147)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.229) BRCA - Breast invasive adenocarcinoma(625;0.000621)|Lung(200;0.0687)|LUSC - Lung squamous cell carcinoma(625;0.0825) AGCTCCTCGCCGCGCGCGCGCC 0.752 4 8 --- --- --- --- OR8I2 120586 broad.mit.edu 37 11 55861308 55861308 + Frame_Shift_Del DEL T T - rs112181516 TCGA-DJ-A3UT-01A-11D-A22D-08 TCGA-DJ-A3UT-10A-01D-A22D-08 Untested Somatic Phase_I WXS none Illumina GAIIx b60dea9f-d0f3-4dbc-a1ec-f84242a59705 5f94f80c-57f7-42b3-909e-7b32ed96aa76 g.chr11:55861308delT ENST00000302124.2 + 1 556 c.525delT c.(523-525)cafs p.H175fs OR8I2_ENST00000560768.1_Frame_Shift_Del_p.H175fs Q8N0Y5 OR8I2_HUMAN olfactory receptor, family 8, subfamily I, member 2 175 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity p.C178fs*2(1) NS(1)|breast(2)|endometrium(16)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(4)|lung(24)|ovary(1)|skin(2)|upper_aerodigestive_tract(1) 53 Esophageal squamous(21;0.00693) GCATCAATCATTTTTTTTGTG 0.443 7 243 --- --- --- --- MN1 4330 broad.mit.edu 37 22 28194913 28194915 + In_Frame_Del DEL TGC TGC - TCGA-DJ-A3UT-01A-11D-A22D-08 TCGA-DJ-A3UT-10A-01D-A22D-08 Untested Somatic Phase_I WXS none Illumina GAIIx b60dea9f-d0f3-4dbc-a1ec-f84242a59705 5f94f80c-57f7-42b3-909e-7b32ed96aa76 g.chr22:28194913_28194915delTGC ENST00000302326.4 - 1 2571_2573 c.1617_1619delGCA c.(1615-1620)caa>ca p.QQ549del NM_002430.2 NP_002421.3 Q10571 MN1_HUMAN meningioma (disrupted in balanced translocation) 1 549 Poly-Gln. binding NS(1)|breast(2)|central_nervous_system(3)|endometrium(4)|kidney(3)|large_intestine(6)|lung(15)|ovary(3)|prostate(4)|skin(3)|upper_aerodigestive_tract(1) 45 ctgttgctgttgctgctgctgct 0.660 T ETV6 """AML, meningioma""" 3 5 --- --- --- ---