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 LYZ 4069 broad.mit.edu 37 12 69743921 69743921 + Missense_Mutation SNP A A T TCGA-EL-A3D1-01A-11D-A19J-08 TCGA-EL-A3D1-10A-01D-A19M-08 Untested Somatic Phase_I WXS none Illumina GAIIx d173b533-5eae-46e3-b624-9fa47623fb54 941d8f35-a642-4478-b457-e05547d484bc g.chr12:69743921A>T ENST00000261267.2 + 2 238 c.170A>T c.(169-171)aAc>aTc p.N57I LYZ_ENST00000548839.1_Missense_Mutation_p.N57I|LYZ_ENST00000549690.1_Missense_Mutation_p.N57I NM_000239.2 NP_000230.1 P61626 LYSC_HUMAN lysozyme 57 cell wall macromolecule catabolic process|cytolysis|defense response to bacterium|inflammatory response extracellular space lysozyme activity|protein binding endometrium(2)|lung(1)|upper_aerodigestive_tract(1) 4 all_epithelial(5;2.98e-35)|Lung NSC(4;9.93e-33)|all_lung(4;5.66e-31)|Breast(13;2.56e-06)|Esophageal squamous(21;0.187) Epithelial(6;8.26e-19)|BRCA - Breast invasive adenocarcinoma(5;8.5e-10)|Lung(24;9.68e-05)|LUAD - Lung adenocarcinoma(15;0.00107)|STAD - Stomach adenocarcinoma(21;0.00503)|OV - Ovarian serous cystadenocarcinoma(12;0.00691)|LUSC - Lung squamous cell carcinoma(43;0.24)|Kidney(9;0.241) AGTGGTTACAACACACGAGCT 0.398000 38 50 0 0 1 0 0 RP11-699L21.1 0 broad.mit.edu 37 3 193711644 193711644 + RNA SNP G G A rs62288199 by1000genomes TCGA-EL-A3D1-01A-11D-A19J-08 TCGA-EL-A3D1-10A-01D-A19M-08 Untested Somatic Phase_I WXS none Illumina GAIIx d173b533-5eae-46e3-b624-9fa47623fb54 941d8f35-a642-4478-b457-e05547d484bc g.chr3:193711644G>A ENST00000397645.2 - 0 75 RP11-699L21.2_ENST00000426616.1_lincRNA NR_033944.1 GCACGCCTACGGAGCCTCAGA 0.478000 3 25 0 0 1 0 0 KRTAP4-7 100132476 broad.mit.edu 37 17 39240627 39240627 + Missense_Mutation SNP T T C rs139671425 by1000genomes TCGA-EL-A3D1-01A-11D-A19J-08 TCGA-EL-A3D1-10A-01D-A19M-08 Untested Somatic Phase_I WXS none Illumina GAIIx d173b533-5eae-46e3-b624-9fa47623fb54 941d8f35-a642-4478-b457-e05547d484bc g.chr17:39240627T>C ENST00000391417.4 + 1 169 c.169T>C c.(169-171)Tct>Cct p.S57P NM_033061.3 NP_149050.3 keratin associated protein 4-7 p.S57P(4) NS(1)|endometrium(3)|kidney(1)|lung(1)|prostate(2)|urinary_tract(1) 9 GTGCTGCCAGTCTGTGTGCTG 0.667000 9 63 0 0 1 0 0 TPTE2P6 0 broad.mit.edu 37 13 25168432 25168432 + RNA SNP T T C rs149337771 by1000genomes TCGA-EL-A3D1-01A-11D-A19J-08 TCGA-EL-A3D1-10A-01D-A19M-08 Untested Somatic Phase_I WXS none Illumina GAIIx d173b533-5eae-46e3-b624-9fa47623fb54 941d8f35-a642-4478-b457-e05547d484bc g.chr13:25168432T>C ENST00000453498.1 + 0 1104 TTGAAACAGCTGGTGTATTAA 0.373000 3 22 0 0 1 0 0 THAP7-AS1 0 broad.mit.edu 37 22 21363744 21363744 + RNA SNP T T C rs2075276 by1000genomes TCGA-EL-A3D1-01A-11D-A19J-08 TCGA-EL-A3D1-10A-01D-A19M-08 Untested Somatic Phase_I WXS none Illumina GAIIx d173b533-5eae-46e3-b624-9fa47623fb54 941d8f35-a642-4478-b457-e05547d484bc g.chr22:21363744T>C ENST00000452284.1 + 0 1411 TUBA3FP_ENST00000422086.1_RNA|THAP7-AS1_ENST00000436079.1_RNA NR_027051.1 CAGATCTGCCTGAGAGAAACC 0.587000 3 25 0 0 1 0 0 STEAP1B 256227 broad.mit.edu 37 7 22532260 22532260 + Missense_Mutation SNP A A G rs62447564 by1000genomes TCGA-EL-A3D1-01A-11D-A19J-08 TCGA-EL-A3D1-10A-01D-A19M-08 Untested Somatic Phase_I WXS none Illumina GAIIx d173b533-5eae-46e3-b624-9fa47623fb54 941d8f35-a642-4478-b457-e05547d484bc g.chr7:22532260A>G ENST00000404369.4 - 4 1101 c.686T>C c.(685-687)aTa>aCa p.I229T STEAP1B_ENST00000406890.2_Missense_Mutation_p.I210T NM_001164460.1 NP_001157932.1 Q6NZ63 STEAL_HUMAN STEAP family member 1B 210 integral to membrane electron carrier activity|flavin adenine dinucleotide binding|iron ion binding|oxidoreductase activity endometrium(1)|kidney(1)|lung(2) 4 CAGAGCCAGTATTGCCAGTCC 0.393000 7 114 0 0 1 0 0 ZNRD1-AS1 0 broad.mit.edu 37 6 29974845 29974845 + RNA SNP G G C TCGA-EL-A3D1-01A-11D-A19J-08 TCGA-EL-A3D1-10A-01D-A19M-08 Untested Somatic Phase_I WXS none Illumina GAIIx d173b533-5eae-46e3-b624-9fa47623fb54 941d8f35-a642-4478-b457-e05547d484bc g.chr6:29974845G>C ENST00000376797.3 - 0 1346 ZNRD1-AS1_ENST00000420251.1_RNA|ZNRD1-AS1_ENST00000425604.1_RNA|HLA-J_ENST00000462773.1_RNA|ZNRD1-AS1_ENST00000448093.1_RNA AGAGCGAGGCGGGTGAGTGAC 0.667000 3 9 0 0 1 0 0 RRN3P2 0 broad.mit.edu 37 16 29110458 29110458 + RNA SNP T T C rs151074589 by1000genomes TCGA-EL-A3D1-01A-11D-A19J-08 TCGA-EL-A3D1-10A-01D-A19M-08 Untested Somatic Phase_I WXS none Illumina GAIIx d173b533-5eae-46e3-b624-9fa47623fb54 941d8f35-a642-4478-b457-e05547d484bc g.chr16:29110458T>C ENST00000564580.1 + 0 1131 p.W375R(25) GAATTTTGAGTGGATAGTGAT 0.328000 4 60 0 0 1 0 0 KRCC1 51315 broad.mit.edu 37 2 88327387 88327387 + Silent SNP A A G rs12999878 byFrequency TCGA-EL-A3D1-01A-11D-A19J-08 TCGA-EL-A3D1-10A-01D-A19M-08 Untested Somatic Phase_I WXS none Illumina GAIIx d173b533-5eae-46e3-b624-9fa47623fb54 941d8f35-a642-4478-b457-e05547d484bc g.chr2:88327387A>G ENST00000347055.3 - 4 1089 c.696T>C c.(694-696)cgT>cgC p.R232R NM_016618.1 NP_057702.1 Q9NPI7 KRCC1_HUMAN lysine-rich coiled-coil 1 232 Lys-rich. cervix(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(3)|ovary(1) 7 TTGTACGCTTACGTTCCTCTT 0.393000 7 143 0 0 1 0 0 ABCA2 20 broad.mit.edu 37 9 139914928 139914928 + Silent SNP G G A TCGA-EL-A3D1-01A-11D-A19J-08 TCGA-EL-A3D1-10A-01D-A19M-08 Untested Somatic Phase_I WXS none Illumina GAIIx d173b533-5eae-46e3-b624-9fa47623fb54 941d8f35-a642-4478-b457-e05547d484bc g.chr9:139914928G>A ENST00000265662.5 - 10 1432 c.1285C>T c.(1285-1287)Ctg>Ttg p.L429L ABCA2_ENST00000492260.1_5'UTR|ABCA2_ENST00000371605.3_Silent_p.L428L|ABCA2_ENST00000341511.6_Silent_p.L429L Q9BZC7 ABCA2_HUMAN ATP-binding cassette, sub-family A (ABC1), member 2 428 cholesterol homeostasis|lipid metabolic process|regulation of intracellular cholesterol transport|regulation of transcription from RNA polymerase II promoter|response to drug|response to steroid hormone stimulus ATP-binding cassette (ABC) transporter complex|cytoplasmic membrane-bounded vesicle|endosome|integral to membrane|microtubule organizing center ATP binding|ATPase activity, coupled to transmembrane movement of substances central_nervous_system(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|liver(1)|lung(25)|prostate(2)|skin(1)|stomach(1)|urinary_tract(1) 41 all_cancers(76;0.16) Myeloproliferative disorder(178;0.0511) STAD - Stomach adenocarcinoma(284;0.123) OV - Ovarian serous cystadenocarcinoma(145;2.94e-05)|Epithelial(140;0.00048) CCCCGCCGCAGCGCCTCGGGT 0.682000 13 38 0 0 1 0 0 RP11-699L21.1 0 broad.mit.edu 37 3 193711638 193711638 + RNA SNP G G A rs62288198 by1000genomes TCGA-EL-A3D1-01A-11D-A19J-08 TCGA-EL-A3D1-10A-01D-A19M-08 Untested Somatic Phase_I WXS none Illumina GAIIx d173b533-5eae-46e3-b624-9fa47623fb54 941d8f35-a642-4478-b457-e05547d484bc g.chr3:193711638G>A ENST00000397645.2 - 0 75 RP11-699L21.2_ENST00000426616.1_lincRNA NR_033944.1 GGGAAAGCACGCCTACGGAGC 0.468000 3 23 0 0 1 0 0 IL7R 3575 broad.mit.edu 37 5 35876286 35876286 + Missense_Mutation SNP A A G TCGA-EL-A3D1-01A-11D-A19J-08 TCGA-EL-A3D1-10A-01D-A19M-08 Untested Somatic Phase_I WXS none Illumina GAIIx d173b533-5eae-46e3-b624-9fa47623fb54 941d8f35-a642-4478-b457-e05547d484bc g.chr5:35876286A>G ENST00000303115.3 + 8 1207 c.1078A>G c.(1078-1080)Agc>Ggc p.S360G IL7R_ENST00000343305.4_3'UTR NM_002185.3 NP_002176.2 P16871 IL7RA_HUMAN interleukin 7 receptor 360 immune response|regulation of DNA recombination extracellular region|integral to membrane antigen binding|interleukin-7 receptor activity NS(1)|breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(78)|kidney(2)|large_intestine(6)|lung(25)|ovary(3)|pancreas(1)|skin(5)|stomach(3) 126 all_lung(31;0.00015) Lung(74;0.111)|COAD - Colon adenocarcinoma(61;0.14)|Epithelial(62;0.187)|Colorectal(62;0.202) CACTCCAGAAAGCTTTGGAAG 0.527000 """Mis, O""" """ALL, ETP ALL""" Severe combined immune deficiency 28 40 0 0 1 0 0 BRAF 673 broad.mit.edu 37 7 140453136 140453136 + Missense_Mutation SNP A A T rs121913377 TCGA-EL-A3D1-01A-11D-A19J-08 TCGA-EL-A3D1-10A-01D-A19M-08 Untested Somatic Phase_I WXS none Illumina GAIIx d173b533-5eae-46e3-b624-9fa47623fb54 941d8f35-a642-4478-b457-e05547d484bc g.chr7:140453136A>T ENST00000288602.6 - 15 1859 c.1799T>A c.(1798-1800)gTg>gAg p.V600E NM_004333.4 NP_004324.2 P15056 BRAF_HUMAN v-raf murine sarcoma viral oncogene homolog B 600 Protein kinase. V -> D (in a melanoma cell line; requires 2 nucleotide substitutions).|V -> E (in sarcoma, colorectal adenocarcinoma, metastatic melanoma, ovarian serous carcinoma, pilocytic astrocytoma; somatic mutation; most common mutation; constitutive and elevated kinase activity; efficiently induces cell transformation; suppression of mutation in melanoma causes growth arrest and promotes apoptosis). activation of MAPKK activity|anti-apoptosis|nerve growth factor receptor signaling pathway|organ morphogenesis|positive regulation of peptidyl-serine phosphorylation|small GTPase mediated signal transduction|synaptic transmission cytosol|nucleus|plasma membrane ATP binding|metal ion binding p.V600E(15453)|p.V600K(252)|p.V600R(44)|p.V600D(16)|p.V600A(12)|p.V600_K601>E(12)|p.V600G(11)|p.T599_R603>I(2)|p.V600Q(2)|p.V600_S605>EK(1)|p.V600_S605>DV(1)|p.V600_S605>D(1)|p.T599_V600insDFGLAT(1) SLC45A3/BRAF(2)|AGTRAP/BRAF(2)|FAM131B_ENST00000443739/BRAF(7)|AKAP9_ENST00000356239/BRAF(10)|KIAA1549/BRAF(703)|FCHSD1/BRAF(2) NS(588)|adrenal_gland(3)|autonomic_ganglia(3)|biliary_tract(29)|bone(7)|breast(21)|central_nervous_system(99)|cervix(6)|endometrium(33)|eye(72)|gastrointestinal_tract_(site_indeterminate)(2)|genital_tract(4)|haematopoietic_and_lymphoid_tissue(436)|kidney(3)|large_intestine(6953)|liver(17)|lung(192)|oesophagus(4)|ovary(275)|pancreas(15)|pituitary(1)|prostate(25)|salivary_gland(1)|skin(6285)|small_intestine(12)|soft_tissue(40)|stomach(11)|testis(7)|thyroid(12220)|upper_aerodigestive_tract(13)|urinary_tract(3) 27380 Melanoma(164;0.00956) Sorafenib(DB00398) TCGAGATTTCACTGTAGCTAG 0.368000 V600D(K029AX_SKIN)|V600D(WM115_SKIN)|V600D(WM2664_SKIN)|V600E(8505C_THYROID)|V600E(A101D_SKIN)|V600E(A2058_SKIN)|V600E(A375_SKIN)|V600E(A673_BONE)|V600E(AM38_CENTRAL_NERVOUS_SYSTEM)|V600E(BCPAP_THYROID)|V600E(BHT101_THYROID)|V600E(BT474_BREAST)|V600E(C32_SKIN)|V600E(CL34_LARGE_INTESTINE)|V600E(COLO205_LARGE_INTESTINE)|V600E(COLO679_SKIN)|V600E(COLO741_SKIN)|V600E(COLO783_SKIN)|V600E(COLO800_SKIN)|V600E(COLO818_SKIN)|V600E(COLO829_SKIN)|V600E(COLO849_SKIN)|V600E(DBTRG05MG_CENTRAL_NERVOUS_SYSTEM)|V600E(DU4475_BREAST)|V600E(ES2_OVARY)|V600E(G361_SKIN)|V600E(GCT_SOFT_TISSUE)|V600E(HS294T_SKIN)|V600E(HS695T_SKIN)|V600E(HS939T_SKIN)|V600E(IGR1_SKIN)|V600E(IGR37_SKIN)|V600E(IGR39_SKIN)|V600E(K029AX_SKIN)|V600E(KG1C_CENTRAL_NERVOUS_SYSTEM)|V600E(LOXIMVI_SKIN)|V600E(MALME3M_SKIN)|V600E(MELHO_SKIN)|V600E(OUMS23_LARGE_INTESTINE)|V600E(RKO_LARGE_INTESTINE)|V600E(RPMI7951_SKIN)|V600E(RVH421_SKIN)|V600E(SH4_SKIN)|V600E(SIGM5_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|V600E(SKHEP1_LIVER)|V600E(SKMEL24_SKIN)|V600E(SKMEL28_SKIN)|V600E(SKMEL5_SKIN)|V600E(SW1417_LARGE_INTESTINE)|V600E(UACC257_SKIN)|V600E(UACC62_SKIN)|V600E(WM793_SKIN)|V600E(WM88_SKIN)|V600E(WM983B_SKIN) 61 """Mis, T, O""" """AKAP9, KIAA1549""" """melanoma, colorectal, papillary thyroid, borderline ov, Non small-cell lung cancer (NSCLC), cholangiocarcinoma, pilocytic astrocytoma""" Cardio-facio-cutaneous syndrome Cardiofaciocutaneous syndrome 40 48 0 0 1 0 0 KCNJ16 3773 broad.mit.edu 37 17 68129292 68129292 + Missense_Mutation SNP A A G TCGA-EL-A3D1-01A-11D-A19J-08 TCGA-EL-A3D1-10A-01D-A19M-08 Untested Somatic Phase_I WXS none Illumina GAIIx d173b533-5eae-46e3-b624-9fa47623fb54 941d8f35-a642-4478-b457-e05547d484bc g.chr17:68129292A>G ENST00000585558.1 + 4 1557 c.1169A>G c.(1168-1170)aAa>aGa p.K390R KCNJ16_ENST00000589377.1_Missense_Mutation_p.K355R|KCNJ16_ENST00000586462.1_Missense_Mutation_p.K394R|KCNJ16_ENST00000283936.1_Missense_Mutation_p.K355R|KCNJ16_ENST00000392671.1_Missense_Mutation_p.K355R|KCNJ16_ENST00000392670.1_Missense_Mutation_p.K355R Q9NPI9 IRK16_HUMAN potassium inwardly-rectifying channel, subfamily J, member 16 355 synaptic transmission voltage-gated potassium channel complex inward rectifier potassium channel activity breast(3)|central_nervous_system(2)|endometrium(2)|kidney(1)|large_intestine(6)|lung(10)|ovary(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3) 32 Breast(10;2.96e-09) CACATAGAAAAAGCACCACCA 0.493000 5 83 0 0 1 0 0 PCCA 5095 broad.mit.edu 37 13 100915074 100915074 + Missense_Mutation SNP A A T TCGA-EL-A3D1-01A-11D-A19J-08 TCGA-EL-A3D1-10A-01D-A19M-08 Untested Somatic Phase_I WXS none Illumina GAIIx d173b533-5eae-46e3-b624-9fa47623fb54 941d8f35-a642-4478-b457-e05547d484bc g.chr13:100915074A>T ENST00000376285.1 + 10 846 c.808A>T c.(808-810)Ata>Tta p.I270L PCCA_ENST00000376279.3_Missense_Mutation_p.I270L|PCCA_ENST00000376286.4_Missense_Mutation_p.I244L NM_000282.3 NP_000273.2 P05165 PCCA_HUMAN propionyl CoA carboxylase, alpha polypeptide 270 ATP-grasp.|Biotin carboxylation. fatty acid beta-oxidation mitochondrial matrix ATP binding|biotin binding|biotin carboxylase activity|enzyme binding|metal ion binding|propionyl-CoA carboxylase activity breast(1)|endometrium(1)|kidney(1)|large_intestine(12)|lung(8)|prostate(1)|skin(2) 26 all_neural(89;0.0837)|Medulloblastoma(90;0.18)|Lung SC(71;0.184) Biotin(DB00121) TCCTCGTCATATAGAAATCCA 0.284000 9 202 0 0 1 0 0 AC074391.1 0 broad.mit.edu 37 2 65738863 65738863 + RNA DEL G G - TCGA-EL-A3D1-01A-11D-A19J-08 TCGA-EL-A3D1-10A-01D-A19M-08 Untested Somatic Phase_I WXS none Illumina GAIIx d173b533-5eae-46e3-b624-9fa47623fb54 941d8f35-a642-4478-b457-e05547d484bc g.chr2:65738863delG ENST00000377977.3 + 0 862 TTTTTTTTTTGTCCAGGAGGC 0.303 3 5 --- --- --- --- PPARGC1B 133522 broad.mit.edu 37 5 149216400 149216402 + In_Frame_Del DEL CAG CAG - TCGA-EL-A3D1-01A-11D-A19J-08 TCGA-EL-A3D1-10A-01D-A19M-08 Untested Somatic Phase_I WXS none Illumina GAIIx d173b533-5eae-46e3-b624-9fa47623fb54 941d8f35-a642-4478-b457-e05547d484bc g.chr5:149216400_149216402delCAG ENST00000309241.5 + 8 2414_2416 c.2382_2384delCAG c.(2380-2385)gac>ga p.DS794del PPARGC1B_ENST00000360453.4_In_Frame_Del_p.DS755del|PPARGC1B_ENST00000403750.1_In_Frame_Del_p.DS730del|PPARGC1B_ENST00000394320.3_In_Frame_Del_p.DS794del NM_133263.3 NP_573570.3 Q86YN6 PRGC2_HUMAN peroxisome proliferator-activated receptor gamma, coactivator 1 beta 794 Glu-rich. estrogen receptor signaling pathway|positive regulation of transcription from RNA polymerase II promoter mediator complex AF-2 domain binding|estrogen receptor binding|ligand-dependent nuclear receptor transcription coactivator activity|nucleotide binding|receptor activator activity|RNA binding|RNA polymerase II transcription cofactor activity p.S795N(1) NS(1)|breast(1)|endometrium(1)|kidney(3)|large_intestine(1)|liver(2)|lung(15)|ovary(3)|prostate(2)|stomach(1) 30 KIRC - Kidney renal clear cell carcinoma(527;0.000962)|Kidney(363;0.00147) TCTTTGAAGACAGCAGCAGCAGC 0.601 7 158 --- --- --- --- AC005077.5 0 broad.mit.edu 37 7 75804672 75804673 + RNA INS - - A TCGA-EL-A3D1-01A-11D-A19J-08 TCGA-EL-A3D1-10A-01D-A19M-08 Untested Somatic Phase_I WXS none Illumina GAIIx d173b533-5eae-46e3-b624-9fa47623fb54 941d8f35-a642-4478-b457-e05547d484bc g.chr7:75804672_75804673insA ENST00000437494.1 + 0 57 catctcgaaccaaaaaaaaaag 0.545 2 4 --- --- --- --- GIGYF1 64599 broad.mit.edu 37 7 100280993 100280994 + Frame_Shift_Del DEL GC GC - TCGA-EL-A3D1-01A-11D-A19J-08 TCGA-EL-A3D1-10A-01D-A19M-08 Untested Somatic Phase_I WXS none Illumina GAIIx d173b533-5eae-46e3-b624-9fa47623fb54 941d8f35-a642-4478-b457-e05547d484bc g.chr7:100280993_100280994delGC ENST00000275732.5 - 18 3335_3336 c.2126_2127delGC c.(2125-2127)cfs p.R710fs NM_022574.4 NP_072096.2 O75420 PERQ1_HUMAN GRB10 interacting GYF protein 1 710 p.R428H(1)|p.R709H(1) central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(6)|prostate(2)|skin(1)|upper_aerodigestive_tract(1) 23 Lung NSC(181;0.035)|all_lung(186;0.0509)|Esophageal squamous(72;0.0817) GCTGCTGGCGGCGCTTCTCCTC 0.649 83 138 --- --- --- --- PRSS3P2 0 broad.mit.edu 37 7 142481996 142481997 + RNA INS - - C TCGA-EL-A3D1-01A-11D-A19J-08 TCGA-EL-A3D1-10A-01D-A19M-08 Untested Somatic Phase_I WXS none Illumina GAIIx d173b533-5eae-46e3-b624-9fa47623fb54 941d8f35-a642-4478-b457-e05547d484bc g.chr7:142481996_142481997insC ENST00000603901.1 + 0 591 NR_001296.3 TCCCAAGGTGGGGGGCTGAGGA 0.564 7 22 --- --- --- --- LINC00475 0 broad.mit.edu 37 9 94904432 94904432 + RNA DEL G G - rs58003635 TCGA-EL-A3D1-01A-11D-A19J-08 TCGA-EL-A3D1-10A-01D-A19M-08 Untested Somatic Phase_I WXS none Illumina GAIIx d173b533-5eae-46e3-b624-9fa47623fb54 941d8f35-a642-4478-b457-e05547d484bc g.chr9:94904432delG ENST00000416438.2 + 0 184 NR_027341.1 GGCCTTCTTTGGGGGGGGGGT 0.612 6 6 --- --- --- ---