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 DNAH8 1769 broad.mit.edu 37 6 38841074 38841074 + Silent SNP C C T TCGA-S7-A7WR-01A-11D-A35I-08 TCGA-S7-A7WR-10A-01D-A35G-08 Untested Somatic Phase_I WXS none Illumina GAIIx 77e0c065-c669-4b66-bae6-bc13980ef055 c9c68651-013c-4a6c-819c-e62f10df5007 g.chr6:38841074C>T ENST00000359357.3 + 50 7145 c.6891C>T c.(6889-6891)gtC>gtT p.V2297V DNAH8_ENST00000441566.1_Silent_p.V2261V|DNAH8_ENST00000449981.2_Silent_p.V2514V dynein, axonemal, heavy chain 8 NS(7)|breast(9)|central_nervous_system(4)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(3)|kidney(16)|large_intestine(44)|liver(4)|lung(101)|ovary(7)|pancreas(2)|prostate(8)|skin(28)|stomach(4)|upper_aerodigestive_tract(6)|urinary_tract(4) 260 ATGAGAAAGTCTTTGAAGATA 0.368000 5 95 0 0 1 0 0 LPCAT2 54947 broad.mit.edu 37 16 55579653 55579653 + Missense_Mutation SNP C C T TCGA-S7-A7WR-01A-11D-A35I-08 TCGA-S7-A7WR-10A-01D-A35G-08 Untested Somatic Phase_I WXS none Illumina GAIIx 77e0c065-c669-4b66-bae6-bc13980ef055 c9c68651-013c-4a6c-819c-e62f10df5007 g.chr16:55579653C>T ENST00000262134.5 + 9 1043 c.859C>T c.(859-861)Cca>Tca p.P287S NM_017839.4 NP_060309.2 Q7L5N7 PCAT2_HUMAN lysophosphatidylcholine acyltransferase 2 287 cellular membrane organization|platelet activating factor biosynthetic process endoplasmic reticulum membrane|Golgi membrane|Golgi stack|integral to membrane 1-acylglycerophosphocholine O-acyltransferase activity|1-alkylglycerophosphocholine O-acetyltransferase activity|calcium ion binding endometrium(2)|kidney(1)|large_intestine(3)|lung(5)|prostate(1) 12 TCAGTTTATGCCAGTTCAAGT 0.289000 4 115 0 0 1 0 0 RPAIN 84268 broad.mit.edu 37 17 5331589 5331589 + Missense_Mutation SNP C C A TCGA-S7-A7WR-01A-11D-A35I-08 TCGA-S7-A7WR-10A-01D-A35G-08 Untested Somatic Phase_I WXS none Illumina GAIIx 77e0c065-c669-4b66-bae6-bc13980ef055 c9c68651-013c-4a6c-819c-e62f10df5007 g.chr17:5331589C>A ENST00000405578.4 + 6 699 c.688C>A c.(688-690)Cca>Aca p.P230T RPAIN_ENST00000536255.2_Intron|RPAIN_ENST00000574003.1_3'UTR|RPAIN_ENST00000381208.5_Intron|RPAIN_ENST00000381209.3_Intron|RPAIN_ENST00000327154.6_Intron|CTC-524C5.2_ENST00000575890.1_RNA NM_001160243.1 NP_001153715.1 Q86UA6 RIP_HUMAN RPA interacting protein 0 DNA recombination|DNA repair|DNA-dependent DNA replication|protein import into nucleus|response to UV cytoplasm|nucleolus|PML body metal ion binding|protein complex binding breast(1)|kidney(1)|large_intestine(2)|lung(1)|prostate(1) 6 GGTTTTATTCCCACCTTGATA 0.408000 3 16 1 1 1 1 0 CDC27 996 broad.mit.edu 37 17 45219678 45219678 + Missense_Mutation SNP A A G TCGA-S7-A7WR-01A-11D-A35I-08 TCGA-S7-A7WR-10A-01D-A35G-08 Untested Somatic Phase_I WXS none Illumina GAIIx 77e0c065-c669-4b66-bae6-bc13980ef055 c9c68651-013c-4a6c-819c-e62f10df5007 g.chr17:45219678A>G ENST00000066544.3 - 11 1388 c.1295T>C c.(1294-1296)tTg>tCg p.L432S CDC27_ENST00000446365.2_Missense_Mutation_p.L371S|CDC27_ENST00000531206.1_Missense_Mutation_p.L438S|CDC27_ENST00000527547.1_Missense_Mutation_p.L432S NM_001114091.1|NM_001256.3 NP_001107563.1|NP_001247.3 P30260 CDC27_HUMAN cell division cycle 27 432 anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|cell proliferation|mitotic cell cycle spindle assembly checkpoint|mitotic metaphase/anaphase transition|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|protein K11-linked ubiquitination anaphase-promoting complex|centrosome|cytosol|nucleoplasm|spindle microtubule protein phosphatase binding p.L438S(1)|p.L432S(1) NS(1)|breast(5)|central_nervous_system(3)|cervix(1)|endometrium(2)|kidney(17)|large_intestine(18)|lung(11)|ovary(5)|pancreas(1)|prostate(19)|skin(5)|upper_aerodigestive_tract(2) 90 GGAAGAGTCCAATTTTGTAAT 0.343000 3 27 0 0 1 0 0 FFAR2 2867 broad.mit.edu 37 19 35940790 35940790 + Silent SNP G G C TCGA-S7-A7WR-01A-11D-A35I-08 TCGA-S7-A7WR-10A-01D-A35G-08 Untested Somatic Phase_I WXS none Illumina GAIIx 77e0c065-c669-4b66-bae6-bc13980ef055 c9c68651-013c-4a6c-819c-e62f10df5007 g.chr19:35940790G>C ENST00000599180.1 + 2 254 c.174G>C c.(172-174)ctG>ctC p.L58L FFAR2_ENST00000246549.2_Silent_p.L58L|FFAR2_ENST00000601590.1_Intron O15552 FFAR2_HUMAN free fatty acid receptor 2 58 integral to plasma membrane G-protein coupled receptor activity|lipid binding NS(1)|breast(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(7)|lung(6)|skin(1)|urinary_tract(1) 22 all_lung(56;1.89e-08)|Lung NSC(56;2.9e-08)|Esophageal squamous(110;0.162) LUSC - Lung squamous cell carcinoma(66;0.0724) ACCTCCTCCTGCTGCTGCTGC 0.647000 3 34 0 0 1 0 0 NBPF10 100132406 broad.mit.edu 37 1 145367739 145367739 + Silent SNP A A G rs146714035 by1000genomes TCGA-S7-A7WR-01A-11D-A35I-08 TCGA-S7-A7WR-10A-01D-A35G-08 Untested Somatic Phase_I WXS none Illumina GAIIx 77e0c065-c669-4b66-bae6-bc13980ef055 c9c68651-013c-4a6c-819c-e62f10df5007 g.chr1:145367739A>G ENST00000342960.5 + 83 10370 c.10335A>G c.(10333-10335)aaA>aaG p.K3445K NBPF10_ENST00000369338.1_Intron|NBPF10_ENST00000369339.2_Intron NM_001039703.4 NP_001034792.4 A6NDV3 A6NDV3_HUMAN neuroblastoma breakpoint family, member 10 3445 p.K3445K(4) NS(3)|breast(1)|central_nervous_system(3)|endometrium(12)|kidney(23)|lung(15)|ovary(1)|prostate(7)|skin(6)|urinary_tract(2) 73 all_hematologic(923;0.032) Colorectal(1306;1.36e-07)|KIRC - Kidney renal clear cell carcinoma(1967;0.00258) ggaaggggaaaaaaagaaggg 0.413000 4 108 0 0 1 0 0 KRT71 112802 broad.mit.edu 37 12 52943841 52943841 + Missense_Mutation SNP G G A TCGA-S7-A7WR-01A-11D-A35I-08 TCGA-S7-A7WR-10A-01D-A35G-08 Untested Somatic Phase_I WXS none Illumina GAIIx 77e0c065-c669-4b66-bae6-bc13980ef055 c9c68651-013c-4a6c-819c-e62f10df5007 g.chr12:52943841G>A ENST00000267119.5 - 2 697 c.628C>T c.(628-630)Cgg>Tgg p.R210W NM_033448.2 NP_258259.1 Q3SY84 K2C71_HUMAN keratin 71 210 Coil 1B.|Rod. R -> Q (in Ref. 5; AAI03919). structural molecule activity breast(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(9)|ovary(1)|skin(1)|urinary_tract(1) 22 BRCA - Breast invasive adenocarcinoma(357;0.194) ACTACGTCCCGCACATTCCTC 0.622000 4 111 0 0 1 0 0 FRG1BP 284802 broad.mit.edu 37 20 29625947 29625947 + Missense_Mutation SNP T T C TCGA-S7-A7WR-01A-11D-A35I-08 TCGA-S7-A7WR-10A-01D-A35G-08 Untested Somatic Phase_I WXS none Illumina GAIIx 77e0c065-c669-4b66-bae6-bc13980ef055 c9c68651-013c-4a6c-819c-e62f10df5007 g.chr20:29625947T>C ENST00000278882.3 + 5 571 c.191T>C c.(190-192)aTt>aCt p.I64T FRG1B_ENST00000439954.2_Missense_Mutation_p.I69T|FRG1B_ENST00000358464.4_Missense_Mutation_p.I64T p.I64T(4) endometrium(10)|kidney(21)|lung(3)|pancreas(1)|prostate(9)|urinary_tract(9) 53 TCAGATGCAATTGGACCAAGA 0.343000 4 104 0 0 1 0 0 HRAS 3265 broad.mit.edu 37 11 533875 533875 + Missense_Mutation SNP G G T rs28933406 TCGA-S7-A7WR-01A-11D-A35I-08 TCGA-S7-A7WR-10A-01D-A35G-08 Untested Somatic Phase_I WXS none Illumina GAIIx 77e0c065-c669-4b66-bae6-bc13980ef055 c9c68651-013c-4a6c-819c-e62f10df5007 g.chr11:533875G>T ENST00000417302.1 - 3 368 c.181C>A c.(181-183)Cag>Aag p.Q61K HRAS_ENST00000451590.1_Missense_Mutation_p.Q61K|HRAS_ENST00000397594.1_Missense_Mutation_p.Q61K|HRAS_ENST00000311189.7_Missense_Mutation_p.Q61K|HRAS_ENST00000397596.2_Missense_Mutation_p.Q61K|HRAS_ENST00000468682.2_5'UTR NM_176795.3 NP_789765.1 P01112 RASH_HUMAN Harvey rat sarcoma viral oncogene homolog 61 Q -> K (in follicular thyroid carcinoma samples; somatic mutation; increases transformation of cultured cell lines; dbSNP:rs28933406).|Q -> L (in melanoma; strongly reduced GTP hydrolysis in the presence of RAF1; increases transformation of cultured cell lines). activation of MAPKK activity|axon guidance|blood coagulation|cell cycle arrest|cellular senescence|epidermal growth factor receptor signaling pathway|insulin receptor signaling pathway|leukocyte migration|mitotic cell cycle G1/S transition checkpoint|negative regulation of cell proliferation|nerve growth factor receptor signaling pathway|organ morphogenesis|positive regulation of DNA replication|positive regulation of epithelial cell proliferation|Ras protein signal transduction|synaptic transmission cytosol|Golgi membrane|plasma membrane GTP binding|GTPase activity|protein C-terminus binding p.Q61K(61)|p.Q61R(1)|p.Q61E(1) adrenal_gland(1)|bone(3)|breast(7)|cervix(23)|endometrium(4)|haematopoietic_and_lymphoid_tissue(12)|kidney(1)|large_intestine(2)|liver(1)|lung(16)|oesophagus(2)|penis(2)|pituitary(10)|prostate(31)|salivary_gland(24)|skin(184)|soft_tissue(38)|stomach(14)|testis(5)|thymus(1)|thyroid(173)|upper_aerodigestive_tract(122)|urinary_tract(225) 901 all_cancers(49;4.37e-09)|all_epithelial(84;2.09e-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;7.63e-28)|Epithelial(43;7.29e-27)|OV - Ovarian serous cystadenocarcinoma(40;7.15e-21)|BRCA - Breast invasive adenocarcinoma(625;3.56e-05)|Lung(200;0.0375)|LUSC - Lung squamous cell carcinoma(625;0.0703) Sulindac(DB00605) TACTCCTCCTGGCCGGCGGTA 0.597000 6 Mis """infrequent sarcomas, rare other types""" """rhadomyosarcoma, ganglioneuroblastoma, bladder""" Costello syndrome HNSCC(11;0.0054) 26 56 2.24059e-21 2.76779e-21 1 1 0 PDE4DIP 9659 broad.mit.edu 37 1 144856986 144856986 + Missense_Mutation SNP C C A TCGA-S7-A7WR-01A-11D-A35I-08 TCGA-S7-A7WR-10A-01D-A35G-08 Untested Somatic Phase_I WXS none Illumina GAIIx 77e0c065-c669-4b66-bae6-bc13980ef055 c9c68651-013c-4a6c-819c-e62f10df5007 g.chr1:144856986C>A ENST00000369359.4 - 43 6945 c.6907G>T c.(6907-6909)Gct>Tct p.A2303S PDE4DIP_ENST00000530740.1_Missense_Mutation_p.A2252S|PDE4DIP_ENST00000369356.4_Missense_Mutation_p.A2167S|PDE4DIP_ENST00000524974.1_5'UTR|PDE4DIP_ENST00000313382.9_Missense_Mutation_p.A2061S|PDE4DIP_ENST00000369354.3_Missense_Mutation_p.A2167S Q5VU43 MYOME_HUMAN phosphodiesterase 4D interacting protein 2167 cellular protein complex assembly centrosome|Golgi apparatus|myofibril|nucleus enzyme binding NS(1)|breast(3)|central_nervous_system(2)|cervix(2)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(9)|large_intestine(12)|lung(106)|ovary(8)|prostate(7)|skin(3)|upper_aerodigestive_tract(4)|urinary_tract(2) 176 Colorectal(2;0.0829)|COAD - Colon adenocarcinoma(2;0.126) CCATCAGTAGCATCACCCTCT 0.473000 T PDGFRB MPD 6 71 6.40141e-05 7.46831e-05 1 1 0 RP11-423O2.5 0 broad.mit.edu 37 1 142803493 142803493 + RNA SNP T T C rs80149641 by1000genomes TCGA-S7-A7WR-01A-11D-A35I-08 TCGA-S7-A7WR-10A-01D-A35G-08 Untested Somatic Phase_I WXS none Illumina GAIIx 77e0c065-c669-4b66-bae6-bc13980ef055 c9c68651-013c-4a6c-819c-e62f10df5007 g.chr1:142803493T>C ENST00000423385.1 - 0 1472 TGTACATTTATTATTGATTTA 0.323000 7 43 0 0 1 0 0 USP32P2 220594 broad.mit.edu 37 17 18420772 18420772 + RNA SNP G G A rs28569074 by1000genomes TCGA-S7-A7WR-01A-11D-A35I-08 TCGA-S7-A7WR-10A-01D-A35G-08 Untested Somatic Phase_I WXS none Illumina GAIIx 77e0c065-c669-4b66-bae6-bc13980ef055 c9c68651-013c-4a6c-819c-e62f10df5007 g.chr17:18420772G>A ENST00000425211.1 - 0 1705 AATTGAAATCGCTTAAGGTGA 0.343000 3 26 0 0 1 0 0 PANK4 55229 broad.mit.edu 37 1 2440495 2440495 + Frame_Shift_Del DEL G G - TCGA-S7-A7WR-01A-11D-A35I-08 TCGA-S7-A7WR-10A-01D-A35G-08 Untested Somatic Phase_I WXS none Illumina GAIIx 77e0c065-c669-4b66-bae6-bc13980ef055 c9c68651-013c-4a6c-819c-e62f10df5007 g.chr1:2440495delG ENST00000378466.3 - 19 2125 c.2113delC c.(2113-2115)tgfs p.L705fs PANK4_ENST00000435556.3_Frame_Shift_Del_p.L666fs NM_018216.1 NP_060686.1 Q9NVE7 PANK4_HUMAN pantothenate kinase 4 705 coenzyme A biosynthetic process cytoplasm ATP binding|pantothenate kinase activity breast(2)|cervix(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(4)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(4) 23 all_cancers(77;0.000158)|all_epithelial(69;8.01e-05)|all_lung(157;0.0212)|Lung NSC(156;0.0376)|Ovarian(185;0.0634) all_epithelial(116;3.18e-20)|all_lung(118;1.67e-08)|Lung NSC(185;2.69e-06)|Breast(487;0.00147)|Renal(390;0.00183)|Hepatocellular(190;0.00826)|Myeloproliferative disorder(586;0.0122)|Ovarian(437;0.0308)|Lung SC(97;0.0847)|Medulloblastoma(700;0.123) Epithelial(90;1.54e-37)|OV - Ovarian serous cystadenocarcinoma(86;6.95e-23)|GBM - Glioblastoma multiforme(42;2.81e-08)|Colorectal(212;4.25e-05)|COAD - Colon adenocarcinoma(227;0.000196)|Kidney(185;0.000342)|BRCA - Breast invasive adenocarcinoma(365;0.00445)|KIRC - Kidney renal clear cell carcinoma(229;0.00549)|STAD - Stomach adenocarcinoma(132;0.00644)|Lung(427;0.201) CCCTTATCCAGGCGGCTTTGG 0.642 2 4 --- --- --- --- PLEKHG5 57449 broad.mit.edu 37 1 6531115 6531115 + Frame_Shift_Del DEL C C - TCGA-S7-A7WR-01A-11D-A35I-08 TCGA-S7-A7WR-10A-01D-A35G-08 Untested Somatic Phase_I WXS none Illumina GAIIx 77e0c065-c669-4b66-bae6-bc13980ef055 c9c68651-013c-4a6c-819c-e62f10df5007 g.chr1:6531115delC ENST00000377748.1 - 14 2055 c.1558delG c.(1558-1560)agfs p.E520fs PLEKHG5_ENST00000537245.1_Frame_Shift_Del_p.E522fs|PLEKHG5_ENST00000340850.5_Frame_Shift_Del_p.E443fs|PLEKHG5_ENST00000377737.2_Frame_Shift_Del_p.E443fs|PLEKHG5_ENST00000544978.1_Frame_Shift_Del_p.E443fs|PLEKHG5_ENST00000400915.3_Frame_Shift_Del_p.E499fs|PLEKHG5_ENST00000535355.1_Frame_Shift_Del_p.E512fs|PLEKHG5_ENST00000377732.1_Frame_Shift_Del_p.E480fs|PLEKHG5_ENST00000377725.1_Frame_Shift_Del_p.E443fs|PLEKHG5_ENST00000377728.3_Frame_Shift_Del_p.E443fs|PLEKHG5_ENST00000377740.3_Frame_Shift_Del_p.E520fs|PLEKHG5_ENST00000400913.1_Frame_Shift_Del_p.E443fs NM_198681.3 NP_941374.2 O94827 PKHG5_HUMAN pleckstrin homology domain containing, family G (with RhoGef domain) member 5 499 DH. apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|positive regulation of I-kappaB kinase/NF-kappaB cascade|regulation of Rho protein signal transduction|small GTPase mediated signal transduction cytosol|perinuclear region of cytoplasm Rho guanyl-nucleotide exchange factor activity|signal transducer activity liver(1) 1 Ovarian(185;0.02)|all_lung(157;0.154) all_cancers(23;1.7e-35)|all_epithelial(116;2.78e-22)|all_lung(118;7.57e-07)|Lung NSC(185;4.26e-06)|Colorectal(325;4.47e-05)|all_hematologic(16;0.00014)|Breast(487;0.000688)|Renal(390;0.0007)|Hepatocellular(190;0.00308)|Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.0448) Epithelial(90;5.51e-35)|GBM - Glioblastoma multiforme(13;3.57e-27)|Colorectal(212;6.23e-08)|COAD - Colon adenocarcinoma(227;1.33e-05)|Kidney(185;4.89e-05)|KIRC - Kidney renal clear cell carcinoma(229;0.000894)|BRCA - Breast invasive adenocarcinoma(365;0.00107)|STAD - Stomach adenocarcinoma(132;0.00159)|READ - Rectum adenocarcinoma(331;0.0419) ATGCAGCCCTCCTCCTCCATG 0.701 2 4 --- --- --- --- RGPD2 729857 broad.mit.edu 37 2 88091594 88091595 + Splice_Site INS - - A TCGA-S7-A7WR-01A-11D-A35I-08 TCGA-S7-A7WR-10A-01D-A35G-08 Untested Somatic Phase_I WXS none Illumina GAIIx 77e0c065-c669-4b66-bae6-bc13980ef055 c9c68651-013c-4a6c-819c-e62f10df5007 g.chr2:88091594_88091595insA ENST00000398146.3 - 17 2602 c.e17-2 RGPD2_ENST00000420840.2_Splice_Site|RGPD2_ENST00000327544.6_Splice_Site Q68DN6 RGPD1_HUMAN RANBP2-like and GRIP domain containing 2 intracellular transport binding breast(1)|pancreas(1) 2 GGGAGAATACtaaaaaaaaaaa 0.312 2 4 --- --- --- --- KIAA1009 22832 broad.mit.edu 37 6 84871605 84871605 + Frame_Shift_Del DEL T T - TCGA-S7-A7WR-01A-11D-A35I-08 TCGA-S7-A7WR-10A-01D-A35G-08 Untested Somatic Phase_I WXS none Illumina GAIIx 77e0c065-c669-4b66-bae6-bc13980ef055 c9c68651-013c-4a6c-819c-e62f10df5007 g.chr6:84871605delT ENST00000403245.3 - 20 2650 c.2536delA c.(2536-2538)ttfs p.I846fs KIAA1009_ENST00000257766.4_Frame_Shift_Del_p.I770fs|KIAA1009_ENST00000461137.1_5'UTR NM_014895.2 NP_055710.2 Q5TB80 QN1_HUMAN KIAA1009 846 cell division|mitosis centrosome|nucleus|plasma membrane|spindle protein binding breast(2)|central_nervous_system(1)|endometrium(6)|kidney(3)|large_intestine(10)|lung(17)|ovary(1)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1) 43 all_cancers(76;1.5e-06)|Acute lymphoblastic leukemia(125;2.69e-07)|all_hematologic(105;0.000151)|all_epithelial(107;0.00258) BRCA - Breast invasive adenocarcinoma(397;0.089) TCTTCTAAAATTTTTATTTCA 0.294 2 4 --- --- --- ---