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 ITGA7 3679 broad.mit.edu 37 12 56088657 56088657 + Missense_Mutation SNP G G A TCGA-DJ-A3VD-01A-11D-A23M-08 TCGA-DJ-A3VD-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx dcc2e54c-d0fe-46a2-a111-36f75edb2582 baf4d540-a042-4ed0-a1ca-9b029816ffeb g.chr12:56088657G>A ENST00000257880.7 - 16 2452 c.2233C>T c.(2233-2235)Ccc>Tcc p.P745S ITGA7_ENST00000553804.1_Missense_Mutation_p.P705S|ITGA7_ENST00000452168.2_Missense_Mutation_p.P608S|ITGA7_ENST00000394229.2_Missense_Mutation_p.P701S|ITGA7_ENST00000394230.2_Missense_Mutation_p.P705S|ITGA7_ENST00000347027.6_Missense_Mutation_p.P695S|ITGA7_ENST00000555728.1_Missense_Mutation_p.P745S|ITGA7_ENST00000257879.6_Missense_Mutation_p.P701S Q13683 ITA7_HUMAN integrin, alpha 7 745 cell-matrix adhesion|integrin-mediated signaling pathway|muscle organ development|regulation of cell shape integrin complex receptor activity breast(2)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(1)|large_intestine(10)|lung(16)|ovary(2)|prostate(2)|skin(5)|soft_tissue(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 50 TCAGCCTGGGGCTGGGCTGGG 0.622000 12 47 0 0 1 0 0 KMT2C 58508 broad.mit.edu 37 7 151933008 151933008 + Missense_Mutation SNP G G A TCGA-DJ-A3VD-01A-11D-A23M-08 TCGA-DJ-A3VD-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx dcc2e54c-d0fe-46a2-a111-36f75edb2582 baf4d540-a042-4ed0-a1ca-9b029816ffeb g.chr7:151933008G>A ENST00000355193.2 - 16 2881 c.2663C>T c.(2662-2664)tCt>tTt p.S888F KMT2C_ENST00000262189.6_Missense_Mutation_p.S888F lysine (K)-specific methyltransferase 2C TGGAAATCCAGACCCACGGCC 0.453000 7 100 0 0 1 0 0 ZNF733P 0 broad.mit.edu 37 7 62752443 62752443 + RNA SNP G G C TCGA-DJ-A3VD-01A-11D-A23M-08 TCGA-DJ-A3VD-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx dcc2e54c-d0fe-46a2-a111-36f75edb2582 baf4d540-a042-4ed0-a1ca-9b029816ffeb g.chr7:62752443G>C ENST00000331425.6 - 0 992 NR_003952.1 CTTATGTCTAGTAAGGTTTGA 0.438000 9 56 0 0 1 0 0 ERBB2IP 55914 broad.mit.edu 37 5 65321737 65321737 + Missense_Mutation SNP A A G TCGA-DJ-A3VD-01A-11D-A23M-08 TCGA-DJ-A3VD-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx dcc2e54c-d0fe-46a2-a111-36f75edb2582 baf4d540-a042-4ed0-a1ca-9b029816ffeb g.chr5:65321737A>G ENST00000284037.5 + 12 1341 c.952A>G c.(952-954)Att>Gtt p.I318V ERBB2IP_ENST00000416865.2_Missense_Mutation_p.I318V|ERBB2IP_ENST00000511297.1_Missense_Mutation_p.I318V|ERBB2IP_ENST00000506030.1_Missense_Mutation_p.I318V|ERBB2IP_ENST00000380938.2_Missense_Mutation_p.I318V|ERBB2IP_ENST00000508515.1_Missense_Mutation_p.I318V|ERBB2IP_ENST00000380943.2_Missense_Mutation_p.I318V|ERBB2IP_ENST00000380936.1_Missense_Mutation_p.I318V|ERBB2IP_ENST00000380935.1_Missense_Mutation_p.I318V|ERBB2IP_ENST00000380939.2_Missense_Mutation_p.I318V NM_001253697.1 NP_001240626.1 Q96RT1 LAP2_HUMAN erbb2 interacting protein 318 basal protein localization|cell adhesion|cell cycle|cell growth|epidermal growth factor receptor signaling pathway|establishment or maintenance of epithelial cell apical/basal polarity|integrin-mediated signaling pathway|intermediate filament cytoskeleton organization basement membrane|cytoplasm|hemidesmosome|nucleus ErbB-2 class receptor binding|integrin binding|structural constituent of cytoskeleton breast(2)|central_nervous_system(2)|endometrium(3)|kidney(5)|large_intestine(8)|lung(11)|ovary(3)|skin(2) 36 Lung NSC(167;9.45e-06)|Prostate(74;0.0139)|Ovarian(174;0.0547)|Breast(144;0.093)|Colorectal(97;0.234) UCEC - Uterine corpus endometrioid carcinoma (4;0.0767)|Lung(70;0.00191) GCCTTCATCTATTGGGCAGCT 0.299000 5 37 0 0 1 0 0 EP400 57634 broad.mit.edu 37 12 132547093 132547093 + Silent SNP A A G rs60608267 by1000genomes TCGA-DJ-A3VD-01A-11D-A23M-08 TCGA-DJ-A3VD-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx dcc2e54c-d0fe-46a2-a111-36f75edb2582 baf4d540-a042-4ed0-a1ca-9b029816ffeb g.chr12:132547093A>G ENST00000333577.4 + 48 8398 c.8289A>G c.(8287-8289)caA>caG p.Q2763Q EP400_ENST00000389562.2_Silent_p.Q2726Q|EP400_ENST00000389561.2_Silent_p.Q2727Q|EP400_ENST00000332482.4_Silent_p.Q2690Q|EP400_ENST00000330386.6_Silent_p.Q2646Q Q96L91 EP400_HUMAN E1A binding protein p400 2763 Interaction with ZNF42 (By similarity).|Poly-Gln. histone H2A acetylation|histone H4 acetylation|regulation of transcription, DNA-dependent NuA4 histone acetyltransferase complex|nuclear speck ATP binding|DNA binding|helicase activity p.Q2726Q(9) NS(1)|breast(6)|central_nervous_system(10)|cervix(1)|endometrium(21)|kidney(13)|large_intestine(25)|lung(56)|ovary(5)|prostate(8)|skin(6)|stomach(4)|upper_aerodigestive_tract(2)|urinary_tract(3) 161 all_neural(191;0.0982)|Medulloblastoma(191;0.163) all_epithelial(31;0.198) OV - Ovarian serous cystadenocarcinoma(86;3.01e-08)|Epithelial(86;3.43e-07)|all cancers(50;2.01e-06) agcagcaacaacagcagcagc 0.567000 6 62 0 0 1 0 0 FOLH1B 219595 broad.mit.edu 37 11 89413808 89413808 + RNA SNP A A G TCGA-DJ-A3VD-01A-11D-A23M-08 TCGA-DJ-A3VD-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx dcc2e54c-d0fe-46a2-a111-36f75edb2582 baf4d540-a042-4ed0-a1ca-9b029816ffeb g.chr11:89413808A>G ENST00000532352.1 + 0 1293 Q9HBA9 FOH1B_HUMAN folate hydrolase 1B proteolysis cytoplasm dipeptidase activity|metal ion binding|metallopeptidase activity p.P160P(3) breast(1)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(7)|lung(26)|ovary(4)|skin(4)|urinary_tract(2) 48 ATTGTACACCACTGATGTACA 0.294000 4 41 0 0 1 0 0 CLCNKB 1188 broad.mit.edu 37 1 16378296 16378296 + Silent SNP A A C TCGA-DJ-A3VD-01A-11D-A23M-08 TCGA-DJ-A3VD-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx dcc2e54c-d0fe-46a2-a111-36f75edb2582 baf4d540-a042-4ed0-a1ca-9b029816ffeb g.chr1:16378296A>C ENST00000375679.4 + 14 1500 c.1389A>C c.(1387-1389)ccA>ccC p.P463P CLCNKB_ENST00000375667.3_Silent_p.P294P NM_000085.4 NP_000076.2 chloride channel, voltage-sensitive Kb breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(4)|ovary(2)|prostate(1)|skin(6)|stomach(2)|urinary_tract(1) 21 Colorectal(325;3.46e-05)|Breast(348;0.000278)|Lung NSC(340;0.000419)|Renal(390;0.000518)|all_lung(284;0.000567)|Ovarian(437;0.0221)|Myeloproliferative disorder(586;0.0255) UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|Colorectal(212;8.04e-08)|COAD - Colon adenocarcinoma(227;5.46e-06)|BRCA - Breast invasive adenocarcinoma(304;9.02e-05)|Kidney(64;0.00016)|KIRC - Kidney renal clear cell carcinoma(64;0.00258)|STAD - Stomach adenocarcinoma(313;0.00655)|READ - Rectum adenocarcinoma(331;0.0649) CCATCATGCCAGGGGGGTATG 0.622000 5 96 0 0 1 0 0 PKLR 5313 broad.mit.edu 37 1 155261654 155261654 + Missense_Mutation SNP C C T TCGA-DJ-A3VD-01A-11D-A23M-08 TCGA-DJ-A3VD-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx dcc2e54c-d0fe-46a2-a111-36f75edb2582 baf4d540-a042-4ed0-a1ca-9b029816ffeb g.chr1:155261654C>T ENST00000392414.3 - 10 1531 c.1418G>A c.(1417-1419)cGc>cAc p.R473H PKLR_ENST00000342741.4_Missense_Mutation_p.R504H NM_181871.3 NP_870986.1 P30613 KPYR_HUMAN pyruvate kinase, liver and RBC 504 endocrine pancreas development|energy reserve metabolic process|glycolysis|positive regulation of cellular metabolic process cytosol ATP binding|magnesium ion binding|potassium ion binding|pyruvate kinase activity NS(1)|autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(4)|lung(16)|ovary(1)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1) 35 all_lung(78;6.99e-23)|Hepatocellular(266;0.0877)|all_hematologic(923;0.145) Epithelial(20;3.18e-10)|all cancers(21;7.9e-10)|BRCA - Breast invasive adenocarcinoma(34;0.00116)|LUSC - Lung squamous cell carcinoma(543;0.127) Pyruvic acid(DB00119) GTGGACCTGGCGGGCAGCCTG 0.602000 21 100 0 0 1 0 0 AIRE 326 broad.mit.edu 37 21 45710772 45710772 + Missense_Mutation SNP C C T TCGA-DJ-A3VD-01A-11D-A23M-08 TCGA-DJ-A3VD-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx dcc2e54c-d0fe-46a2-a111-36f75edb2582 baf4d540-a042-4ed0-a1ca-9b029816ffeb g.chr21:45710772C>T ENST00000355347.4 + 1 83 c.83C>T c.(82-84)cCg>cTg p.P28L AIRE_ENST00000329347.4_Missense_Mutation_p.P28L|AIRE_ENST00000291582.5_Intron O43918 AIRE_HUMAN autoimmune regulator 360 HSR. L -> P (in APECED; abolishes association with cytoplasmic tubular structures and homodimerization). positive regulation of transcription, DNA-dependent|transcription, DNA-dependent cytoplasm|nucleus chromatin binding|histone binding|transcription regulatory region DNA binding|translation regulator activity|zinc ion binding breast(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(7)|skin(2)|urinary_tract(1) 14 Colorectal(79;0.0806) GGGATGGCCCCGGGGGGTGTC 0.602000 Autoimmune PolyEndocrinopathy Candidiasis Ectodermal Dystrophy 12 136 0 0 1 0 0 RPLP0P2 0 broad.mit.edu 37 11 61404336 61404336 + RNA SNP G G A rs17626916 by1000genomes TCGA-DJ-A3VD-01A-11D-A23M-08 TCGA-DJ-A3VD-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx dcc2e54c-d0fe-46a2-a111-36f75edb2582 baf4d540-a042-4ed0-a1ca-9b029816ffeb g.chr11:61404336G>A ENST00000496593.1 + 0 940 NR_002775.2 GCCATGACGCGCAAGGCCATC 0.587000 4 44 0 0 1 0 0 FCGBP 8857 broad.mit.edu 37 19 40367841 40367841 + Silent SNP T T G TCGA-DJ-A3VD-01A-11D-A23M-08 TCGA-DJ-A3VD-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx dcc2e54c-d0fe-46a2-a111-36f75edb2582 baf4d540-a042-4ed0-a1ca-9b029816ffeb g.chr19:40367841T>G ENST00000221347.6 - 29 13126 c.13119A>C c.(13117-13119)gcA>gcC p.A4373A NM_003890.2 NP_003881.2 Q9Y6R7 FCGBP_HUMAN Fc fragment of IgG binding protein 4373 TIL 10. extracellular region protein binding p.A4373A(2) NS(3)|autonomic_ganglia(1)|breast(7)|central_nervous_system(5)|endometrium(13)|kidney(9)|large_intestine(27)|lung(49)|ovary(8)|pancreas(3)|prostate(13)|skin(9)|stomach(9)|upper_aerodigestive_tract(6)|urinary_tract(3) 165 all_cancers(60;6.03e-06)|all_lung(34;5.58e-08)|Lung NSC(34;6.62e-08)|Ovarian(47;0.06) Epithelial(26;6.25e-23)|all cancers(26;1.13e-20) TCGTAAGGGGTGCAGGGGACG 0.627000 7 23 0 0 1 0 0 BPIFB3 359710 broad.mit.edu 37 20 31649627 31649627 + Missense_Mutation SNP T T A rs147720727 byFrequency TCGA-DJ-A3VD-01A-11D-A23M-08 TCGA-DJ-A3VD-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx dcc2e54c-d0fe-46a2-a111-36f75edb2582 baf4d540-a042-4ed0-a1ca-9b029816ffeb g.chr20:31649627T>A ENST00000375494.3 + 5 581 c.581T>A c.(580-582)cTt>cAt p.L194H NM_182658.1 NP_872599.1 P59826 LPLC3_HUMAN BPI fold containing family B, member 3 194 Leu-rich. innate immune response cytoplasm|extracellular region lipid binding|protein binding TTCAAGGTGCTTCCGGGACTG 0.627000 4 53 0 0 1 0 0 SPATA31D5P 0 broad.mit.edu 37 9 84533044 84533044 + RNA SNP T T C rs530720 by1000genomes TCGA-DJ-A3VD-01A-11D-A23M-08 TCGA-DJ-A3VD-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx dcc2e54c-d0fe-46a2-a111-36f75edb2582 baf4d540-a042-4ed0-a1ca-9b029816ffeb g.chr9:84533044T>C ENST00000527857.1 + 0 3066 NR_026851.1 TTTTCTGATATTGACCATGAC 0.458000 4 60 0 0 1 0 0 GJA8 2703 broad.mit.edu 37 1 147380805 147380805 + Silent SNP G G A TCGA-DJ-A3VD-01A-11D-A23M-08 TCGA-DJ-A3VD-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx dcc2e54c-d0fe-46a2-a111-36f75edb2582 baf4d540-a042-4ed0-a1ca-9b029816ffeb g.chr1:147380805G>A ENST00000240986.4 + 2 776 c.723G>A c.(721-723)gaG>gaA p.E241E GJA8_ENST00000369235.1_Silent_p.E241E NM_005267.4 NP_005258.2 P48165 CXA8_HUMAN gap junction protein, alpha 8, 50kDa 241 cell communication|visual perception connexon complex|integral to plasma membrane channel activity NS(1)|breast(2)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(9)|lung(12)|ovary(2)|pancreas(1)|prostate(3)|skin(1)|stomach(1) 37 all_hematologic(923;0.0276) GGCCTGTAGAGCAGCCCCTGG 0.552000 5 85 0 0 1 0 0 MROH2B 133558 broad.mit.edu 37 5 41018510 41018510 + Missense_Mutation SNP G G A TCGA-DJ-A3VD-01A-11D-A23M-08 TCGA-DJ-A3VD-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx dcc2e54c-d0fe-46a2-a111-36f75edb2582 baf4d540-a042-4ed0-a1ca-9b029816ffeb g.chr5:41018510G>A ENST00000399564.4 - 27 3146 c.2696C>T c.(2695-2697)tCa>tTa p.S899L MROH2B_ENST00000506092.2_Missense_Mutation_p.S454L NM_173489.4 NP_775760.3 maestro heat-like repeat family member 2B CTCTTTTTGTGAAACAAGCCA 0.353000 4 20 0 0 1 0 0 TCN2 6948 broad.mit.edu 37 22 31011296 31011296 + Missense_Mutation SNP G G T TCGA-DJ-A3VD-01A-11D-A23M-08 TCGA-DJ-A3VD-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx dcc2e54c-d0fe-46a2-a111-36f75edb2582 baf4d540-a042-4ed0-a1ca-9b029816ffeb g.chr22:31011296G>T ENST00000215838.3 + 5 1083 c.589G>T c.(589-591)Gcc>Tcc p.A197S TCN2_ENST00000407817.3_Missense_Mutation_p.A170S|TCN2_ENST00000405742.3_Missense_Mutation_p.A193S P20062 TCO2_HUMAN transcobalamin II 197 cobalamin metabolic process|cobalamin transport|cobalt ion transport extracellular space cobalamin binding central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(5)|lung(6)|prostate(2)|urinary_tract(1) 22 Cyanocobalamin(DB00115)|Hydroxocobalamin(DB00200) AGACACAGCAGCCATGGCAGG 0.567000 7 92 0.00448238 0.0047103 1 1 0 BRAF 673 broad.mit.edu 37 7 140453136 140453136 + Missense_Mutation SNP A A T rs121913377 TCGA-DJ-A3VD-01A-11D-A23M-08 TCGA-DJ-A3VD-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx dcc2e54c-d0fe-46a2-a111-36f75edb2582 baf4d540-a042-4ed0-a1ca-9b029816ffeb 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 15 84 0 0 1 0 0 ALDOA 226 broad.mit.edu 37 16 30081367 30081367 + Missense_Mutation SNP G G T rs2071390 by1000genomes TCGA-DJ-A3VD-01A-11D-A23M-08 TCGA-DJ-A3VD-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx dcc2e54c-d0fe-46a2-a111-36f75edb2582 baf4d540-a042-4ed0-a1ca-9b029816ffeb g.chr16:30081367G>T ENST00000569798.1 + 8 1193 c.1016G>T c.(1015-1017)aGg>aTg p.R339M ALDOA_ENST00000412304.2_Intron|ALDOA_ENST00000563060.2_Intron|ALDOA_ENST00000564595.2_Intron|ALDOA_ENST00000395240.3_Intron|ALDOA_ENST00000566897.1_Intron|ALDOA_ENST00000564546.1_Intron|ALDOA_ENST00000569545.1_Intron|ALDOA_ENST00000395248.1_Intron|ALDOA_ENST00000338110.5_Intron P04075 ALDOA_HUMAN aldolase A, fructose-bisphosphate 0 C -> Y (in GSD12). actin filament organization|ATP biosynthetic process|fructose 1,6-bisphosphate metabolic process|gluconeogenesis|glycolysis|muscle cell homeostasis|platelet activation|platelet degranulation|protein homotetramerization|regulation of cell shape|striated muscle contraction actin cytoskeleton|cytosol|extracellular vesicular exosome|I band|platelet alpha granule lumen actin binding|fructose binding|fructose-bisphosphate aldolase activity|identical protein binding|tubulin binding breast(2)|cervix(1)|endometrium(4)|large_intestine(1)|lung(6)|prostate(2)|upper_aerodigestive_tract(1) 17 ATAGGCAGGAGGTGGGCAGGG 0.617000 5 63 0.000602214 0.000643746 1 1 0 SLC25A10 1468 broad.mit.edu 37 17 79687107 79687107 + Nonstop_Mutation SNP A A C TCGA-DJ-A3VD-01A-11D-A23M-08 TCGA-DJ-A3VD-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx dcc2e54c-d0fe-46a2-a111-36f75edb2582 baf4d540-a042-4ed0-a1ca-9b029816ffeb g.chr17:79687107A>C ENST00000331531.5 + 11 1011 c.891A>C c.(889-891)tgA>tgC p.*297C SLC25A10_ENST00000350690.5_Nonstop_Mutation_p.*288C|SLC25A10_ENST00000571730.1_Nonstop_Mutation_p.*443C|SLC25A10_ENST00000545862.1_Nonstop_Mutation_p.*245C|SLC25A10_ENST00000541223.1_Nonstop_Mutation_p.*443C NM_001270888.1 NP_001257817.1 Q9UBX3 DIC_HUMAN solute carrier family 25 (mitochondrial carrier; dicarboxylate transporter), member 10 0 gluconeogenesis|mitochondrial transport integral to membrane|mitochondrial inner membrane|nucleus protein binding p.*288C(1) endometrium(1)|lung(9)|ovary(1)|prostate(1)|skin(2) 14 all_neural(118;0.0878)|Ovarian(332;0.12)|all_lung(278;0.23) BRCA - Breast invasive adenocarcinoma(99;0.0117)|OV - Ovarian serous cystadenocarcinoma(97;0.0955) Succinic acid(DB00139) TGCCATCCTGACCAGCCGTGG 0.607000 10 60 0 0 1 0 0 ZNF814 730051 broad.mit.edu 37 19 58385546 58385546 + Missense_Mutation SNP G G T TCGA-DJ-A3VD-01A-11D-A23M-08 TCGA-DJ-A3VD-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx dcc2e54c-d0fe-46a2-a111-36f75edb2582 baf4d540-a042-4ed0-a1ca-9b029816ffeb g.chr19:58385546G>T ENST00000435989.2 - 3 1446 c.1212C>A c.(1210-1212)gaC>gaA p.D404E ZNF814_ENST00000595295.1_Intron|ZNF814_ENST00000600634.1_Intron|ZNF814_ENST00000596604.1_Intron|ZNF814_ENST00000597342.1_Intron|ZNF814_ENST00000597832.1_Intron NM_001144989.1 NP_001138461.1 B7Z6K7 ZN814_HUMAN zinc finger protein 814 404 regulation of transcription, DNA-dependent intracellular nucleic acid binding|zinc ion binding p.D404E(10) NS(1)|central_nervous_system(2)|endometrium(3)|kidney(9)|lung(2)|prostate(4)|skin(1)|urinary_tract(3) 25 AATGTTTTTTGTCAGTGTGAA 0.393000 4 28 0.00909568 0.00939887 1 1 0 CHPF2 54480 broad.mit.edu 37 7 150933593 150933593 + Missense_Mutation SNP G G A rs143478285 byFrequency TCGA-DJ-A3VD-01A-11D-A23M-08 TCGA-DJ-A3VD-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx dcc2e54c-d0fe-46a2-a111-36f75edb2582 baf4d540-a042-4ed0-a1ca-9b029816ffeb g.chr7:150933593G>A ENST00000035307.2 + 3 2441 c.928G>A c.(928-930)Gaa>Aaa p.E310K CHPF2_ENST00000495645.1_Missense_Mutation_p.E302K NM_019015.1 NP_061888.1 Q9P2E5 CHPF2_HUMAN chondroitin polymerizing factor 2 310 Golgi cisterna membrane|integral to membrane N-acetylgalactosaminyl-proteoglycan 3-beta-glucuronosyltransferase activity breast(1)|endometrium(2)|large_intestine(3)|lung(3)|ovary(4)|prostate(1)|skin(3) 17 CCCTGTCTCCGAAGGTACCCT 0.562000 4 47 0 0 1 0 0 CENPT 80152 broad.mit.edu 37 16 67865073 67865073 + Missense_Mutation SNP G G A rs8052287 by1000genomes TCGA-DJ-A3VD-01A-11D-A23M-08 TCGA-DJ-A3VD-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx dcc2e54c-d0fe-46a2-a111-36f75edb2582 baf4d540-a042-4ed0-a1ca-9b029816ffeb g.chr16:67865073G>A ENST00000445712.2 - 6 686 c.440C>T c.(439-441)cCg>cTg p.P147L CENPT_ENST00000440851.2_Intron|CENPT_ENST00000219172.3_Intron|CENPT_ENST00000562947.1_Intron|CENPT_ENST00000564817.1_Intron|CENPT_ENST00000562787.1_Intron Q96BT3 CENPT_HUMAN centromere protein T 0 mitotic prometaphase condensed chromosome kinetochore|cytosol|nucleus DNA binding NS(1)|breast(2)|lung(6)|urinary_tract(1) 10 Acute lymphoblastic leukemia(13;0.000299)|all_hematologic(13;0.0184)|Ovarian(137;0.0563) OV - Ovarian serous cystadenocarcinoma(108;0.00429)|Epithelial(162;0.019)|all cancers(182;0.124) CTGTCATAGCGGGGAGAGCTT 0.562000 8 182 0 0 1 0 0 GXYLT2 727936 broad.mit.edu 37 3 72957598 72957598 + Missense_Mutation SNP A A G TCGA-DJ-A3VD-01A-11D-A23M-08 TCGA-DJ-A3VD-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx dcc2e54c-d0fe-46a2-a111-36f75edb2582 baf4d540-a042-4ed0-a1ca-9b029816ffeb g.chr3:72957598A>G ENST00000389617.4 + 2 517 c.356A>G c.(355-357)aAt>aGt p.N119S NM_001080393.1 NP_001073862.1 A0PJZ3 GXLT2_HUMAN glucoside xylosyltransferase 2 119 O-glycan processing integral to membrane UDP-xylosyltransferase activity NS(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(6)|upper_aerodigestive_tract(1)|urinary_tract(3) 18 GCCTGTGGCAATCGGCTGGAG 0.547000 4 58 0 0 1 0 0 VANGL1 81839 broad.mit.edu 37 1 116206351 116206351 + Missense_Mutation SNP A A G rs143196463 byFrequency TCGA-DJ-A3VD-01A-11D-A23M-08 TCGA-DJ-A3VD-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx dcc2e54c-d0fe-46a2-a111-36f75edb2582 baf4d540-a042-4ed0-a1ca-9b029816ffeb g.chr1:116206351A>G ENST00000355485.2 + 4 545 c.274A>G c.(274-276)Att>Gtt p.I92V VANGL1_ENST00000369510.3_Missense_Mutation_p.I90V|VANGL1_ENST00000369509.1_Missense_Mutation_p.I92V|VANGL1_ENST00000310260.3_Missense_Mutation_p.I92V NM_001172411.1|NM_138959.2 NP_001165882.1|NP_620409.1 Q8TAA9 VANG1_HUMAN VANGL planar cell polarity protein 1 92 multicellular organismal development integral to membrane protein binding NS(1)|breast(1)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(2)|liver(2)|lung(13)|urinary_tract(1) 27 Lung SC(450;0.211) all_cancers(81;1.24e-06)|all_epithelial(167;1.02e-06)|all_lung(203;7.95e-06)|Lung NSC(69;4.97e-05) Lung(183;0.0171)|Colorectal(144;0.0686)|LUSC - Lung squamous cell carcinoma(189;0.0903)|all cancers(265;0.108)|COAD - Colon adenocarcinoma(174;0.111)|Epithelial(280;0.12) CCAAGAGGACATTGCCAGGAT 0.562000 6 138 0 0 1 0 0 CTC-338M12.9 0 broad.mit.edu 37 5 180708697 180708698 + RNA INS - - A rs1815381 TCGA-DJ-A3VD-01A-11D-A23M-08 TCGA-DJ-A3VD-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx dcc2e54c-d0fe-46a2-a111-36f75edb2582 baf4d540-a042-4ed0-a1ca-9b029816ffeb g.chr5:180708697_180708698insA ENST00000412295.2 + 0 238 ggggcggtaggcgggggctgga 0.718 3 3 --- --- --- --- CTC-338M12.9 0 broad.mit.edu 37 5 180708776 180708777 + RNA INS - - G rs140221514 TCGA-DJ-A3VD-01A-11D-A23M-08 TCGA-DJ-A3VD-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx dcc2e54c-d0fe-46a2-a111-36f75edb2582 baf4d540-a042-4ed0-a1ca-9b029816ffeb g.chr5:180708776_180708777insG ENST00000412295.2 + 0 238 gggcggtaggagggggctggag 0.728 4 6 --- --- --- --- ZNF733P 0 broad.mit.edu 37 7 62752415 62752416 + RNA INS - - C TCGA-DJ-A3VD-01A-11D-A23M-08 TCGA-DJ-A3VD-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx dcc2e54c-d0fe-46a2-a111-36f75edb2582 baf4d540-a042-4ed0-a1ca-9b029816ffeb g.chr7:62752415_62752416insC ENST00000331425.6 - 0 1019_1020 NR_003952.1 GCATAGGGTTTTCTCTAGTATG 0.421 7 84 --- --- --- --- ABL1 25 broad.mit.edu 37 9 133759490 133759492 + In_Frame_Del DEL AAG AAG - TCGA-DJ-A3VD-01A-11D-A23M-08 TCGA-DJ-A3VD-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx dcc2e54c-d0fe-46a2-a111-36f75edb2582 baf4d540-a042-4ed0-a1ca-9b029816ffeb g.chr9:133759490_133759492delAAG ENST00000318560.5 + 11 2194_2196 c.1813_1815delAAG c.(1813-1815)del p.K609del NM_005157.4 NP_005148.2 P00519 ABL1_HUMAN c-abl oncogene 1, non-receptor tyrosine kinase 609 Poly-Lys. actin cytoskeleton organization|axon guidance|blood coagulation|cell adhesion|DNA damage induced protein phosphorylation|DNA damage response, signal transduction resulting in induction of apoptosis|mismatch repair|muscle cell differentiation|negative regulation of protein serine/threonine kinase activity|peptidyl-tyrosine phosphorylation|positive regulation of muscle cell differentiation|positive regulation of oxidoreductase activity|regulation of transcription involved in S phase of mitotic cell cycle cytoskeleton|cytosol|nuclear membrane|nucleolus|perinuclear region of cytoplasm ATP binding|DNA binding|magnesium ion binding|manganese ion binding|mitogen-activated protein kinase binding|non-membrane spanning protein tyrosine kinase activity|proline-rich region binding|protein C-terminus binding|SH3 domain binding breast(3)|central_nervous_system(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1149)|kidney(3)|large_intestine(7)|lung(15)|ovary(1)|skin(4)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 1195 all_hematologic(13;0.0361)|Acute lymphoblastic leukemia(5;0.0543)|Myeloproliferative disorder(178;0.204) OV - Ovarian serous cystadenocarcinoma(145;5.4e-05) Adenosine triphosphate(DB00171)|Dasatinib(DB01254)|Imatinib(DB00619) CGCCTTGATCAAGAAGAAGAAGA 0.616 """T, Mis""" """BCR, ETV6, NUP214""" """CML, ALL, T-ALL""" 7 224 --- --- --- --- OR8D4 338662 broad.mit.edu 37 11 123777441 123777442 + Frame_Shift_Ins INS - - T rs79561639 byFrequency TCGA-DJ-A3VD-01A-11D-A23M-08 TCGA-DJ-A3VD-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx dcc2e54c-d0fe-46a2-a111-36f75edb2582 baf4d540-a042-4ed0-a1ca-9b029816ffeb g.chr11:123777441_123777442insT ENST00000321355.2 + 1 333_334 c.303_304insT c.(301-306)ctttttfs p.LF101fs NM_001005197.1 NP_001005197.1 Q8NGM9 OR8D4_HUMAN olfactory receptor, family 8, subfamily D, member 4 101 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity large_intestine(1)|lung(16)|prostate(1)|skin(2)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1) 25 Breast(109;0.00867)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|all_neural(223;0.22) BRCA - Breast invasive adenocarcinoma(274;4.93e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0409) TGATTCAGCTGTTTTTTTTCTG 0.436 8 399 --- --- --- --- CLIP1 6249 broad.mit.edu 37 12 122812690 122812691 + Frame_Shift_Ins INS - - T TCGA-DJ-A3VD-01A-11D-A23M-08 TCGA-DJ-A3VD-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx dcc2e54c-d0fe-46a2-a111-36f75edb2582 baf4d540-a042-4ed0-a1ca-9b029816ffeb g.chr12:122812690_122812691insT ENST00000358808.2 - 16 3173_3174 c.3019_3020insA c.(3019-3021)ccafs p.P1007fs CLIP1_ENST00000540338.1_Frame_Shift_Ins_p.P1018fs|CLIP1_ENST00000537178.1_Frame_Shift_Ins_p.P972fs|CLIP1_ENST00000545889.1_Frame_Shift_Ins_p.P593fs|CLIP1_ENST00000361654.4_Frame_Shift_Ins_p.P896fs|CLIP1_ENST00000302528.7_Frame_Shift_Ins_p.P1007fs NM_001247997.1|NM_002956.2 NP_001234926.1|NP_002947.1 P30622 CLIP1_HUMAN CAP-GLY domain containing linker protein 1 1018 mitotic prometaphase|positive regulation of microtubule polymerization centrosome|cytosol|endosome|intermediate filament|kinetochore nucleic acid binding|protein homodimerization activity|zinc ion binding NS(1)|breast(5)|endometrium(4)|kidney(5)|large_intestine(16)|liver(1)|lung(21)|ovary(2)|prostate(3)|upper_aerodigestive_tract(1)|urinary_tract(1) 60 all_neural(191;0.0837)|Medulloblastoma(191;0.163) OV - Ovarian serous cystadenocarcinoma(86;1.81e-05)|Epithelial(86;6.85e-05)|BRCA - Breast invasive adenocarcinoma(302;0.226) CTGGTTGTGGCTTGTTTCCATT 0.505 12 296 --- --- --- --- MIS18BP1 55320 broad.mit.edu 37 14 45693722 45693722 + Frame_Shift_Del DEL T T - TCGA-DJ-A3VD-01A-11D-A23M-08 TCGA-DJ-A3VD-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx dcc2e54c-d0fe-46a2-a111-36f75edb2582 baf4d540-a042-4ed0-a1ca-9b029816ffeb g.chr14:45693722delT ENST00000310806.4 - 11 2526 c.2068delA c.(2068-2070)gtfs p.S690fs NM_018353.4 NP_060823.3 Q6P0N0 M18BP_HUMAN MIS18 binding protein 1 690 cell division|CenH3-containing nucleosome assembly at centromere|mitosis chromosome, centromeric region|nucleoplasm DNA binding NS(1)|breast(2)|cervix(1)|endometrium(2)|kidney(3)|large_intestine(10)|liver(1)|lung(13)|ovary(2)|pancreas(1)|prostate(1)|skin(2) 39 CTGATGGGACTTTTTTTTTGA 0.373 9 179 --- --- --- --- KRTAP4-1 85285 broad.mit.edu 37 17 39340796 39340852 + In_Frame_Del DEL CGGCAGCAGCTGGACATACCACAGCTGGGGTGGCAGGTGGTCTGACAGCAGAGTGGG CGGCAGCAGCTGGACATACCACAGCTGGGGTGGCAGGTGGTCTGACAGCAGAGTGGG - rs483929 by1000genomes TCGA-DJ-A3VD-01A-11D-A23M-08 TCGA-DJ-A3VD-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx dcc2e54c-d0fe-46a2-a111-36f75edb2582 baf4d540-a042-4ed0-a1ca-9b029816ffeb g.chr17:39340796_39340852delCGGCAGCAGCTGGACATACCACAGCTGGGGTGGCAGGTGGTCTGACAGCAGAGTGGG ENST00000398472.1 - 1 742_798 c.255_311delCCCACTCTGCTGTCAGACCACCTGCCACCCCAGCTGTGGTATGTCCAGCTGCTGCCG c.(253-312)cgt>cg p.RPLCCQTTCHPSCGMSSCCR85del Q9BYQ7 KRA41_HUMAN keratin associated protein 4-1 85 18 X 5 AA repeats of C-C-[GRQC]-[SPT]- [VSTL]. Missing (in allele KAP4.10). keratin filament p.H90_C108delHPSCGMSSCCRPLCCQTTC(2)|p.H94_C112delHPSCGMSSCCRPLCCQTTC(2) kidney(1)|large_intestine(1)|lung(1)|prostate(1)|upper_aerodigestive_tract(1) 5 Breast(137;0.000496) STAD - Stomach adenocarcinoma(17;0.000449) ACAGAGTGGACGGCAGCAGCTGGACATACCACAGCTGGGGTGGCAGGTGGTCTGACAGCAGAGTGGGCGGCAGCAGC 0.646 86 45 --- --- --- --- CDC27 996 broad.mit.edu 37 17 45219612 45219612 + Frame_Shift_Del DEL A A - TCGA-DJ-A3VD-01A-11D-A23M-08 TCGA-DJ-A3VD-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx dcc2e54c-d0fe-46a2-a111-36f75edb2582 baf4d540-a042-4ed0-a1ca-9b029816ffeb g.chr17:45219612delA ENST00000066544.3 - 11 1454 c.1361delT c.(1360-1362)cafs p.L454fs CDC27_ENST00000446365.2_Frame_Shift_Del_p.L393fs|CDC27_ENST00000527547.1_Frame_Shift_Del_p.L454fs|CDC27_ENST00000531206.1_Frame_Shift_Del_p.L460fs NM_001114091.1|NM_001256.3 NP_001107563.1|NP_001247.3 P30260 CDC27_HUMAN cell division cycle 27 454 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 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 TGCTTTTTGTAGATTAAAGGC 0.308 7 42 --- --- --- --- NEFH 4744 broad.mit.edu 37 22 29885859 29885876 + In_Frame_Del DEL GCTAAGTCCCCAGAGAAG GCTAAGTCCCCAGAGAAG - rs117283469 byFrequency TCGA-DJ-A3VD-01A-11D-A23M-08 TCGA-DJ-A3VD-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx dcc2e54c-d0fe-46a2-a111-36f75edb2582 baf4d540-a042-4ed0-a1ca-9b029816ffeb g.chr22:29885859_29885876delGCTAAGTCCCCAGAGAAG ENST00000310624.6 + 4 2263_2280 c.2230_2247delGCTAAGTCCCCAGAGAAG c.(2230-2247)del p.AKSPEK750del NM_021076.3 NP_066554.2 P12036 NFH_HUMAN neurofilament, heavy polypeptide 756 30 X 6 AA repeats of K-S-P-[AEPV]-[EAK]- [AEVK].|Tail. cell death|nervous system development neurofilament cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(12)|ovary(2)|skin(3) 30 GAAGGAAGAAGCTAAGTCCCCAGAGAAGGCCAAGTCCC 0.550 39 211 --- --- --- --- NAP1L3 4675 broad.mit.edu 37 X 92928115 92928135 + In_Frame_Del DEL GCTGCTGCTGCTGCCGCTGCC GCTGCTGCTGCTGCCGCTGCC - TCGA-DJ-A3VD-01A-11D-A23M-08 TCGA-DJ-A3VD-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx dcc2e54c-d0fe-46a2-a111-36f75edb2582 baf4d540-a042-4ed0-a1ca-9b029816ffeb g.chrX:92928115_92928135delGCTGCTGCTGCTGCCGCTGCC ENST00000373079.3 - 1 432_452 c.169_189delGGCAGCGGCAGCAGCAGCAGC c.(169-189)del p.GSGSSSS57del NAP1L3_ENST00000475430.1_5'UTR NM_004538.5 NP_004529.2 Q99457 NP1L3_HUMAN nucleosome assembly protein 1-like 3 57 Ser-rich. nucleosome assembly chromatin assembly complex haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(16)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(1) 34 tgccgctgctgctgctgctgctgccgctgccgctgctgctg 0.597 24 34 --- --- --- ---