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 FBXO8 26269 broad.mit.edu 37 4 175183979 175183979 + Missense_Mutation SNP T T C TCGA-WB-A81K-01A-11D-A35I-08 TCGA-WB-A81K-10A-01D-A35G-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6c745e12-f34a-43b4-907f-25f18f3092ff 47fd631e-685a-4b72-8555-f76929369287 g.chr4:175183979T>C ENST00000393674.2 - 2 1127 c.265A>G c.(265-267)Act>Gct p.T89A FBXO8_ENST00000503293.1_Intron NM_012180.2 NP_036312.2 Q9NRD0 FBX8_HUMAN F-box protein 8 89 F-box. regulation of ARF protein signal transduction|ubiquitin-dependent protein catabolic process cytoplasm|ubiquitin ligase complex ARF guanyl-nucleotide exchange factor activity breast(3)|endometrium(1)|kidney(1)|large_intestine(5)|lung(2)|prostate(1)|urinary_tract(1) 14 Prostate(90;0.00201)|Melanoma(52;0.012)|Renal(120;0.0183)|all_neural(102;0.0887)|all_hematologic(60;0.107) all cancers(43;7.29e-18)|Epithelial(43;1.85e-15)|OV - Ovarian serous cystadenocarcinoma(60;5.62e-09)|GBM - Glioblastoma multiforme(59;0.00115)|STAD - Stomach adenocarcinoma(60;0.00299)|LUSC - Lung squamous cell carcinoma(193;0.1) CAAAGGTCAGTTGCATTCAGG 0.423000 9 50 0 0 1 0 0 PRTG 283659 broad.mit.edu 37 15 55965852 55965852 + Silent SNP A A G TCGA-WB-A81K-01A-11D-A35I-08 TCGA-WB-A81K-10A-01D-A35G-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6c745e12-f34a-43b4-907f-25f18f3092ff 47fd631e-685a-4b72-8555-f76929369287 g.chr15:55965852A>G ENST00000389286.4 - 10 1616 c.1569T>C c.(1567-1569)atT>atC p.I523I NM_173814.4 NP_776175.2 Q2VWP7 PRTG_HUMAN protogenin 523 Fibronectin type-III 2. multicellular organismal development integral to membrane breast(1)|endometrium(6)|kidney(4)|large_intestine(7)|liver(1)|lung(18)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1) 41 all cancers(107;0.00891)|GBM - Glioblastoma multiforme(80;0.135) TTGTCAAACTAATTTCAGGAG 0.443000 8 55 0 0 1 0 0 SLC36A2 153201 broad.mit.edu 37 5 150722489 150722489 + Missense_Mutation SNP T T A TCGA-WB-A81K-01A-11D-A35I-08 TCGA-WB-A81K-10A-01D-A35G-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6c745e12-f34a-43b4-907f-25f18f3092ff 47fd631e-685a-4b72-8555-f76929369287 g.chr5:150722489T>A ENST00000335244.4 - 4 529 c.400A>T c.(400-402)Aac>Tac p.N134Y SLC36A2_ENST00000521967.1_Missense_Mutation_p.N134Y NM_181776.2 NP_861441.2 Q495M3 S36A2_HUMAN solute carrier family 36 (proton/amino acid symporter), member 2 134 cellular nitrogen compound metabolic process cytoplasm|integral to membrane|plasma membrane glycine transmembrane transporter activity breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(14)|large_intestine(3)|lung(8)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1) 33 Medulloblastoma(196;0.109)|all_hematologic(541;0.243) KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101) GCGTTGGGGTTGGCTTCTAGT 0.517000 5 68 0 0 1 0 0 HAO2 51179 broad.mit.edu 37 1 119934877 119934877 + Missense_Mutation SNP G G A TCGA-WB-A81K-01A-11D-A35I-08 TCGA-WB-A81K-10A-01D-A35G-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6c745e12-f34a-43b4-907f-25f18f3092ff 47fd631e-685a-4b72-8555-f76929369287 g.chr1:119934877G>A ENST00000361035.4 + 7 1238 c.955G>A c.(955-957)Ggc>Agc p.G319S HAO2_ENST00000325945.3_Missense_Mutation_p.G306S NM_001005783.1 NP_001005783.1 Q9NYQ3 HAOX2_HUMAN hydroxyacid oxidase 2 (long chain) 306 FMN hydroxy acid dehydrogenase. fatty acid alpha-oxidation peroxisome (S)-2-hydroxy-acid oxidase activity breast(1)|endometrium(6)|kidney(2)|large_intestine(5)|lung(10)|ovary(2)|skin(2)|upper_aerodigestive_tract(2) 30 all_neural(166;0.187) all_lung(203;1.06e-06)|Lung NSC(69;7.5e-06)|all_epithelial(167;0.000284) Lung(183;0.0155)|LUSC - Lung squamous cell carcinoma(189;0.0856) AATCCTATGGGGCCTTGCCTG 0.498000 3 25 0 0 1 0 0 BAGE2 85319 broad.mit.edu 37 21 11058353 11058353 + RNA SNP T T C rs79433933 by1000genomes TCGA-WB-A81K-01A-11D-A35I-08 TCGA-WB-A81K-10A-01D-A35G-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6c745e12-f34a-43b4-907f-25f18f3092ff 47fd631e-685a-4b72-8555-f76929369287 g.chr21:11058353T>C ENST00000470054.1 - 0 324 B melanoma antigen family, member 2 Colorectal(6;3.44e-05)|COAD - Colon adenocarcinoma(6;0.00727)|READ - Rectum adenocarcinoma(6;0.0723) UCEC - Uterine corpus endometrioid carcinoma (6;0.0974)|all cancers(6;2.54e-22)|Epithelial(6;4.21e-19)|OV - Ovarian serous cystadenocarcinoma(6;1.16e-09)|BRCA - Breast invasive adenocarcinoma(6;7.72e-05)|Lung(8;0.000189)|LUSC - Lung squamous cell carcinoma(6;0.00379)|GBM - Glioblastoma multiforme(6;0.00391)|Kidney(17;0.0773)|LUAD - Lung adenocarcinoma(8;0.247) GAAATCTCTTTATAAAACCTT 0.343000 6 103 0 0 1 0 0 RP11-156P1.3 0 broad.mit.edu 37 17 45128742 45128742 + RNA SNP T T G rs34655963 by1000genomes TCGA-WB-A81K-01A-11D-A35I-08 TCGA-WB-A81K-10A-01D-A35G-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6c745e12-f34a-43b4-907f-25f18f3092ff 47fd631e-685a-4b72-8555-f76929369287 g.chr17:45128742T>G ENST00000575173.1 - 0 418 TAATGATTTTTATTATACTTT 0.328000 4 93 0 0 1 0 0 FAT4 79633 broad.mit.edu 37 4 126408600 126408600 + Missense_Mutation SNP C C G TCGA-WB-A81K-01A-11D-A35I-08 TCGA-WB-A81K-10A-01D-A35G-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6c745e12-f34a-43b4-907f-25f18f3092ff 47fd631e-685a-4b72-8555-f76929369287 g.chr4:126408600C>G ENST00000394329.3 + 16 12930 c.12917C>G c.(12916-12918)aCt>aGt p.T4306S FAT4_ENST00000335110.5_Missense_Mutation_p.T2547S NM_024582.4 NP_078858.4 Q6V0I7 FAT4_HUMAN FAT atypical cadherin 4 4306 Laminin G-like 2. homophilic cell adhesion integral to membrane|plasma membrane calcium ion binding NS(6)|autonomic_ganglia(1)|breast(4)|central_nervous_system(3)|cervix(3)|endometrium(27)|haematopoietic_and_lymphoid_tissue(3)|kidney(10)|large_intestine(93)|liver(3)|lung(120)|ovary(9)|pancreas(2)|prostate(21)|skin(31)|stomach(1)|upper_aerodigestive_tract(12)|urinary_tract(6) 355 CACTGGCACACTTTTCTAATT 0.398000 5 62 0 0 1 0 0 TBP 6908 broad.mit.edu 37 6 170871052 170871052 + Silent SNP G G A rs112083427 TCGA-WB-A81K-01A-11D-A35I-08 TCGA-WB-A81K-10A-01D-A35G-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6c745e12-f34a-43b4-907f-25f18f3092ff 47fd631e-685a-4b72-8555-f76929369287 g.chr6:170871052G>A ENST00000392092.2 + 3 507 c.228G>A c.(226-228)caG>caA p.Q76Q TBP_ENST00000540980.1_Silent_p.Q56Q|TBP_ENST00000230354.6_Silent_p.Q76Q NM_003194.4 NP_003185.1 P20226 TBP_HUMAN TATA box binding protein 76 Poly-Gln. cell death|interspecies interaction between organisms|transcription elongation from RNA polymerase II promoter|transcription from RNA polymerase III promoter|viral reproduction transcription factor TFIIA complex|transcription factor TFIID complex repressing transcription factor binding|transcription regulatory region DNA binding p.Q76Q(4) breast(2)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(2)|lung(9)|ovary(1)|prostate(4)|urinary_tract(1) 26 Breast(66;5.08e-05)|Ovarian(120;0.125)|Esophageal squamous(34;0.246) OV - Ovarian serous cystadenocarcinoma(33;1.07e-22)|BRCA - Breast invasive adenocarcinoma(81;5.01e-06)|GBM - Glioblastoma multiforme(31;0.00591) agcaacagcagcagcagcagc 0.572000 3 30 0 0 1 0 0 NSUN2 54888 broad.mit.edu 37 5 6600272 6600272 + Missense_Mutation SNP G G T TCGA-WB-A81K-01A-11D-A35I-08 TCGA-WB-A81K-10A-01D-A35G-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6c745e12-f34a-43b4-907f-25f18f3092ff 47fd631e-685a-4b72-8555-f76929369287 g.chr5:6600272G>T ENST00000264670.6 - 19 2382 c.2071C>A c.(2071-2073)Ccc>Acc p.P691T NSUN2_ENST00000506139.1_Missense_Mutation_p.P656T|NSUN2_ENST00000539938.1_Missense_Mutation_p.P455T NM_017755.5 NP_060225.4 Q08J23 NSUN2_HUMAN NOP2/Sun RNA methyltransferase family, member 2 691 cytoplasm|nucleolus tRNA (cytosine-5-)-methyltransferase activity|tRNA binding breast(1)|endometrium(6)|kidney(2)|large_intestine(5)|lung(23)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1) 41 TCATTCTTGGGCACAAAAGTT 0.498000 3 41 0.115264 0.115264 1 1 0 CD244 51744 broad.mit.edu 37 1 160801173 160801173 + Silent SNP G G A TCGA-WB-A81K-01A-11D-A35I-08 TCGA-WB-A81K-10A-01D-A35G-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6c745e12-f34a-43b4-907f-25f18f3092ff 47fd631e-685a-4b72-8555-f76929369287 g.chr1:160801173G>A ENST00000368034.4 - 9 1239 c.1062C>T c.(1060-1062)agC>agT p.S354S CD244_ENST00000368033.3_Silent_p.S359S|CD244_ENST00000322302.7_Silent_p.S262S NM_001166663.1|NM_001166664.1|NM_016382.3 NP_001160135.1|NP_001160136.1|NP_057466.1 Q9BZW8 CD244_HUMAN CD244 molecule, natural killer cell receptor 2B4 359 blood coagulation|leukocyte migration integral to membrane|plasma membrane protein binding|receptor activity central_nervous_system(1)|large_intestine(3)|lung(12)|ovary(1)|urinary_tract(1) 18 all_cancers(52;2.72e-17)|all_hematologic(112;0.093) BRCA - Breast invasive adenocarcinoma(70;0.00737) GCTCTTTGCGGCTCAATCGAG 0.458000 4 110 0 0 1 0 0 RP11-423O2.5 0 broad.mit.edu 37 1 142803543 142803543 + RNA SNP C C T TCGA-WB-A81K-01A-11D-A35I-08 TCGA-WB-A81K-10A-01D-A35G-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6c745e12-f34a-43b4-907f-25f18f3092ff 47fd631e-685a-4b72-8555-f76929369287 g.chr1:142803543C>T ENST00000423385.1 - 0 1422 TGTTGGAATTCCTGATGAATC 0.269000 6 139 0 0 1 0 0 ECD 11319 broad.mit.edu 37 10 74899424 74899424 + Missense_Mutation SNP A A T TCGA-WB-A81K-01A-11D-A35I-08 TCGA-WB-A81K-10A-01D-A35G-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6c745e12-f34a-43b4-907f-25f18f3092ff 47fd631e-685a-4b72-8555-f76929369287 g.chr10:74899424A>T ENST00000372979.4 - 10 1405 c.1199T>A c.(1198-1200)cTt>cAt p.L400H ECD_ENST00000454759.1_Missense_Mutation_p.L357H|ECD_ENST00000430082.1_Missense_Mutation_p.L433H NM_007265.2 NP_009196.1 O95905 SGT1_HUMAN ecdysoneless homolog (Drosophila) 400 regulation of glycolysis|regulation of transcription, DNA-dependent|transcription from RNA polymerase II promoter cytoplasm|nucleus transcription coactivator activity breast(1)|endometrium(3)|kidney(1)|large_intestine(4)|lung(5)|pancreas(1)|prostate(1)|skin(1)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 21 Prostate(51;0.0119) TTCTTTCTTAAGGTCTTCTAT 0.348000 17 220 0 0 1 0 0 NDNL2 56160 broad.mit.edu 37 15 29561154 29561154 + Silent SNP C C T TCGA-WB-A81K-01A-11D-A35I-08 TCGA-WB-A81K-10A-01D-A35G-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6c745e12-f34a-43b4-907f-25f18f3092ff 47fd631e-685a-4b72-8555-f76929369287 g.chr15:29561154C>T ENST00000332303.4 - 1 879 c.756G>A c.(754-756)ccG>ccA p.P252P FAM189A1_ENST00000261275.4_Intron NM_138704.3 NP_619649.1 Q96MG7 MAGG1_HUMAN necdin-like 2 252 MAGE. regulation of growth cytoplasm|nucleus breast(3)|large_intestine(2)|lung(3) 8 all_lung(180;4.69e-11)|Breast(32;0.0013) all cancers(64;8.37e-11)|Epithelial(43;9.29e-10)|BRCA - Breast invasive adenocarcinoma(123;0.00736)|GBM - Glioblastoma multiforme(186;0.018)|Lung(196;0.153) GGTTGGTTCGCGGGCCCCACT 0.532000 4 150 0 0 1 0 0 INPP5B 3633 broad.mit.edu 37 1 38397417 38397417 + Silent SNP G G T TCGA-WB-A81K-01A-11D-A35I-08 TCGA-WB-A81K-10A-01D-A35G-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6c745e12-f34a-43b4-907f-25f18f3092ff 47fd631e-685a-4b72-8555-f76929369287 g.chr1:38397417G>T ENST00000373023.2 - 7 793 c.700C>A c.(700-702)Cgg>Agg p.R234R INPP5B_ENST00000373024.3_Intron|INPP5B_ENST00000373021.1_Silent_p.R234R|INPP5B_ENST00000373027.1_5'UTR|INPP5B_ENST00000373026.1_Silent_p.R234R NM_005540.2 NP_005531.2 P32019 I5P2_HUMAN inositol polyphosphate-5-phosphatase, 75kDa 234 regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction cytosol|integral to membrane|microtubule cytoskeleton GTPase activator activity|inositol-polyphosphate 5-phosphatase activity|phosphatidylinositol-4,5-bisphosphate 5-phosphatase activity|protein binding breast(1)|endometrium(2)|large_intestine(1)|liver(1)|lung(9)|urinary_tract(1) 15 Acute lymphoblastic leukemia(166;0.074)|all_hematologic(146;0.197) Myeloproliferative disorder(586;0.0255) TCCTCATCCCGCCGCCCGTCC 0.692000 3 19 0.004672 0.0051392 1 1 0 TAOK1 57551 broad.mit.edu 37 17 27834971 27834971 + Missense_Mutation SNP G G T TCGA-WB-A81K-01A-11D-A35I-08 TCGA-WB-A81K-10A-01D-A35G-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6c745e12-f34a-43b4-907f-25f18f3092ff 47fd631e-685a-4b72-8555-f76929369287 g.chr17:27834971G>T ENST00000261716.3 + 14 1915 c.1396G>T c.(1396-1398)Ggc>Tgc p.G466C TAOK1_ENST00000536202.1_Missense_Mutation_p.G466C NM_020791.2 NP_065842.1 Q7L7X3 TAOK1_HUMAN TAO kinase 1 466 mitotic prometaphase cytosol|intracellular membrane-bounded organelle ATP binding|protein serine/threonine kinase activity NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(1)|large_intestine(4)|lung(14)|prostate(2)|skin(2)|upper_aerodigestive_tract(1) 28 Colorectal(6;0.198) ACAAATGTCTGGCTATAAGCG 0.393000 3 33 6.4e-05 7.41053e-05 1 1 0 SRGAP2-AS1 100873165 broad.mit.edu 37 1 121137791 121137793 + RNA DEL CCA CCA - rs28552466 by1000genomes TCGA-WB-A81K-01A-11D-A35I-08 TCGA-WB-A81K-10A-01D-A35G-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6c745e12-f34a-43b4-907f-25f18f3092ff 47fd631e-685a-4b72-8555-f76929369287 g.chr1:121137791_121137793delCCA ENST00000437515.1 - 0 329 ATTTCGCCCTCCACCGCCGCCGC 0.631 5 4 --- --- --- --- SPEG 10290 broad.mit.edu 37 2 220348147 220348147 + Frame_Shift_Del DEL A A - TCGA-WB-A81K-01A-11D-A35I-08 TCGA-WB-A81K-10A-01D-A35G-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6c745e12-f34a-43b4-907f-25f18f3092ff 47fd631e-685a-4b72-8555-f76929369287 g.chr2:220348147delA ENST00000312358.7 + 30 6094 c.5962delA c.(5962-5964)gcfs p.S1988fs AC053503.11_ENST00000429882.1_RNA|SPEG_ENST00000485813.1_3'UTR NM_005876.4 NP_005867.3 Q15772 SPEG_HUMAN SPEG complex locus 1988 muscle organ development|negative regulation of cell proliferation nucleus ATP binding|protein serine/threonine kinase activity breast(2)|central_nervous_system(3)|endometrium(10)|kidney(2)|large_intestine(9)|lung(42)|ovary(5)|pancreas(1)|prostate(8)|skin(1)|stomach(9)|upper_aerodigestive_tract(4)|urinary_tract(4) 100 Renal(207;0.0183) Epithelial(149;4.5e-10)|all cancers(144;7.93e-08)|Lung(261;0.00639)|LUSC - Lung squamous cell carcinoma(224;0.00829)|READ - Rectum adenocarcinoma(5;0.163) GGAGGCTCCCAGCCCAGAGGC 0.731 2 4 --- --- --- --- PVRL1 5818 broad.mit.edu 37 11 119535678 119535680 + In_Frame_Del DEL CCT CCT - TCGA-WB-A81K-01A-11D-A35I-08 TCGA-WB-A81K-10A-01D-A35G-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6c745e12-f34a-43b4-907f-25f18f3092ff 47fd631e-685a-4b72-8555-f76929369287 g.chr11:119535678_119535680delCCT ENST00000264025.3 - 6 1861_1863 c.1331_1333delAGG c.(1330-1335)ggc>g p.EG444del PVRL1_ENST00000341398.2_Intron NM_002855.4 NP_002846.3 Q15223 PVRL1_HUMAN poliovirus receptor-related 1 (herpesvirus entry mediator C) 444 Poly-Glu. adherens junction organization|cell junction assembly|entry of virus into host cell|heterophilic cell-cell adhesion|homophilic cell adhesion|immune response cell-cell adherens junction|extracellular region|integral to membrane cell adhesion molecule binding|coreceptor activity|protein homodimerization activity p.E444fs*>73(1) breast(1)|endometrium(3)|kidney(2)|large_intestine(9)|liver(1)|lung(7)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 27 Breast(348;0.037)|Medulloblastoma(222;0.0425)|all_neural(223;0.112) BRCA - Breast invasive adenocarcinoma(274;4.29e-05) CCTCCACCGCcctcctcctcctc 0.660 7 33 --- --- --- --- FAM155A 728215 broad.mit.edu 37 13 108518687 108518689 + In_Frame_Del DEL CTG CTG - TCGA-WB-A81K-01A-11D-A35I-08 TCGA-WB-A81K-10A-01D-A35G-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6c745e12-f34a-43b4-907f-25f18f3092ff 47fd631e-685a-4b72-8555-f76929369287 g.chr13:108518687_108518689delCTG ENST00000375915.2 - 1 394_396 c.256_258delCAG c.(256-258)del p.Q86del NM_001080396.2 NP_001073865.1 B1AL88 F155A_HUMAN family with sequence similarity 155, member A 86 Poly-Gln. integral to membrane binding breast(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(5)|lung(11)|prostate(2)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1) 33 gccgctgcctctgctgctgctgc 0.719 7 42 --- --- --- --- RRN3P1 730092 broad.mit.edu 37 16 21817398 21817399 + RNA INS - - A rs144931984 by1000genomes TCGA-WB-A81K-01A-11D-A35I-08 TCGA-WB-A81K-10A-01D-A35G-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6c745e12-f34a-43b4-907f-25f18f3092ff 47fd631e-685a-4b72-8555-f76929369287 g.chr16:21817398_21817399insA ENST00000546471.1 - 0 1607 TAAATGaaaataaaaaaataaa 0.302 5 5 --- --- --- --- MINK1 50488 broad.mit.edu 37 17 4793935 4793937 + In_Frame_Del DEL CAG CAG - TCGA-WB-A81K-01A-11D-A35I-08 TCGA-WB-A81K-10A-01D-A35G-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6c745e12-f34a-43b4-907f-25f18f3092ff 47fd631e-685a-4b72-8555-f76929369287 g.chr17:4793935_4793937delCAG ENST00000355280.6 + 14 1667_1669 c.1471_1473delCAG c.(1471-1473)del p.Q495del MINK1_ENST00000347992.7_In_Frame_Del_p.Q495del|MINK1_ENST00000453408.3_In_Frame_Del_p.Q495del NM_001024937.3|NM_015716.4|NM_153827.4 NP_001020108.1|NP_056531.1|NP_722549.2 Q8N4C8 MINK1_HUMAN misshapen-like kinase 1 495 JNK cascade cytoplasm ATP binding|protein binding|protein serine/threonine kinase activity|small GTPase regulator activity central_nervous_system(2)|large_intestine(1)|lung(1)|skin(1)|stomach(1) 6 gcttcagaaacagcagcagcagc 0.611 2 4 --- --- --- --- LRRC37A11P 342666 broad.mit.edu 37 17 37196001 37196002 + RNA DEL AG AG - rs34712077 TCGA-WB-A81K-01A-11D-A35I-08 TCGA-WB-A81K-10A-01D-A35G-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6c745e12-f34a-43b4-907f-25f18f3092ff 47fd631e-685a-4b72-8555-f76929369287 g.chr17:37196001_37196002delAG ENST00000425901.2 + 0 2604 NR_033753.2 GAATACAGACAGAAAAGAATTT 0.327 4 3 --- --- --- --- KAT2A 2648 broad.mit.edu 37 17 40273004 40273005 + Frame_Shift_Del DEL CT CT - TCGA-WB-A81K-01A-11D-A35I-08 TCGA-WB-A81K-10A-01D-A35G-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6c745e12-f34a-43b4-907f-25f18f3092ff 47fd631e-685a-4b72-8555-f76929369287 g.chr17:40273004_40273005delCT ENST00000225916.5 - 1 371_372 c.318_319delAG c.(316-321)ctggfs p.LG106fs CTD-2132N18.3_ENST00000592574.1_Intron NM_021078.2 NP_066564.2 Q92830 KAT2A_HUMAN K(lysine) acetyltransferase 2A 106 chromatin remodeling|histone deubiquitination|interspecies interaction between organisms|regulation of transcription from RNA polymerase II promoter|transcription from RNA polymerase II promoter Ada2/Gcn5/Ada3 transcription activator complex|STAGA complex|transcription factor TFTC complex H3 histone acetyltransferase activity|histone deacetylase binding|protein binding|transcription coactivator activity central_nervous_system(1)|endometrium(3)|large_intestine(1)|lung(4)|ovary(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2) 18 GAGAAGACCCCTAGCTTCTCAA 0.693 2 4 --- --- --- ---