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 FAF1 11124 broad.mit.edu 37 1 51049325 51049325 + Splice_Site SNP T T C TCGA-QU-A6IP-01A-11D-A31L-08 TCGA-QU-A6IP-10A-01D-A31J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8522e5d6-2758-432a-a023-6e6dc07e9893 148f3b38-a40b-4815-a3b4-d00c41470ae4 g.chr1:51049325T>C ENST00000396153.2 - 11 1481 c.1030A>G c.(1030-1032)Aga>Gga p.R344G FAF1_ENST00000472808.1_5'UTR|FAF1_ENST00000545823.1_Splice_Site_p.R102G|FAF1_ENST00000371778.4_Splice_Site_p.R344G NM_007051.2 NP_008982.1 Q9UNN5 FAF1_HUMAN Fas (TNFRSF6) associated factor 1 344 apoptosis|cytoplasmic sequestering of NF-kappaB|positive regulation of apoptosis|positive regulation of protein complex assembly|proteasomal ubiquitin-dependent protein catabolic process|regulation of protein catabolic process CD95 death-inducing signaling complex|cytosol|perinuclear region of cytoplasm heat shock protein binding|NF-kappaB binding|protein kinase binding|protein kinase regulator activity p.0?(1) breast(2)|kidney(3)|large_intestine(5)|lung(10)|ovary(1)|pancreas(2)|upper_aerodigestive_tract(1) 24 GBM - Glioblastoma multiforme(3;3.18e-11)|all cancers(3;0.00526) TAACCCTACCTTGAAGAAAAC 0.289 10 31 --- --- --- --- PPM1G 5496 broad.mit.edu 37 2 27608655 27608655 + Missense_Mutation SNP T T C TCGA-QU-A6IP-01A-11D-A31L-08 TCGA-QU-A6IP-10A-01D-A31J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8522e5d6-2758-432a-a023-6e6dc07e9893 148f3b38-a40b-4815-a3b4-d00c41470ae4 g.chr2:27608655T>C ENST00000344034.4 - 4 632 c.368A>G c.(367-369)gAg>gGg p.E123G PPM1G_ENST00000350803.4_Missense_Mutation_p.E123G NM_177983.2 NP_817092.1 O15355 PPM1G_HUMAN protein phosphatase, Mg2+/Mn2+ dependent, 1G 123 cell cycle arrest|protein dephosphorylation cytoplasm|nucleus|protein serine/threonine phosphatase complex metal ion binding|protein serine/threonine phosphatase activity endometrium(2)|kidney(1)|large_intestine(2)|lung(9)|ovary(1)|prostate(2)|urinary_tract(2) 19 Acute lymphoblastic leukemia(172;0.155) ATCTTCATCCTCAGTGGGTCG 0.403 3 48 --- --- --- --- GUF1 60558 broad.mit.edu 37 4 44682800 44682800 + Missense_Mutation SNP G G A TCGA-QU-A6IP-01A-11D-A31L-08 TCGA-QU-A6IP-10A-01D-A31J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8522e5d6-2758-432a-a023-6e6dc07e9893 148f3b38-a40b-4815-a3b4-d00c41470ae4 g.chr4:44682800G>A ENST00000281543.5 + 3 561 c.367G>A c.(367-369)Gca>Aca p.A123T GUF1_ENST00000506793.1_3'UTR NM_021927.2 NP_068746.2 Q8N442 GUF1_HUMAN GUF1 GTPase homolog (S. cerevisiae) 123 translation mitochondrial inner membrane GTP binding|GTPase activity breast(1)|cervix(1)|endometrium(1)|large_intestine(3)|lung(8)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(2) 19 AGCACAGACAGCATCTCTCTT 0.323 7 22 --- --- --- --- CARD6 84674 broad.mit.edu 37 5 40854090 40854090 + Missense_Mutation SNP A A G TCGA-QU-A6IP-01A-11D-A31L-08 TCGA-QU-A6IP-10A-01D-A31J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8522e5d6-2758-432a-a023-6e6dc07e9893 148f3b38-a40b-4815-a3b4-d00c41470ae4 g.chr5:40854090A>G ENST00000254691.5 + 3 2855 c.2656A>G c.(2656-2658)Ata>Gta p.I886V CARD6_ENST00000381677.3_Intron NM_032587.3 NP_115976.2 Q9BX69 CARD6_HUMAN caspase recruitment domain family, member 6 886 apoptosis|regulation of apoptosis intracellular NS(1)|breast(2)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(10)|liver(2)|lung(29)|ovary(2)|pancreas(1)|prostate(2)|skin(3)|urinary_tract(1) 62 TGGAAAACTGATAAGAACATC 0.488 32 85 --- --- --- --- PCDHB18P 54660 broad.mit.edu 37 5 140616414 140616414 + RNA SNP A A G TCGA-QU-A6IP-01A-11D-A31L-08 TCGA-QU-A6IP-10A-01D-A31J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8522e5d6-2758-432a-a023-6e6dc07e9893 148f3b38-a40b-4815-a3b4-d00c41470ae4 g.chr5:140616414A>G ENST00000526308.1 + 0 2477 NR_001281.1 endometrium(9)|lung(7)|ovary(1)|urinary_tract(1) 18 GGGGCAAATGAGTTCAAGTTC 0.562 20 94 --- --- --- --- CUX1 1523 broad.mit.edu 37 7 101916637 101916637 + Splice_Site SNP G G T TCGA-QU-A6IP-01A-11D-A31L-08 TCGA-QU-A6IP-10A-01D-A31J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8522e5d6-2758-432a-a023-6e6dc07e9893 148f3b38-a40b-4815-a3b4-d00c41470ae4 g.chr7:101916637G>T ENST00000437600.4 + 15 1602 c.1250G>T c.(1249-1251)gGa>gTa p.G417V CUX1_ENST00000547394.2_Splice_Site_p.G403V|CUX1_ENST00000393824.3_Splice_Site_p.G380V|CUX1_ENST00000292538.4_Splice_Site_p.G419V|CUX1_ENST00000560541.1_3'UTR|CUX1_ENST00000425244.2_Splice_Site_p.G373V NM_181500.2 NP_852477.1 P39880 CUX1_HUMAN cut-like homeobox 1 408 negative regulation of transcription from RNA polymerase II promoter nucleus sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity breast(2)|central_nervous_system(1)|cervix(2)|endometrium(6)|kidney(3)|large_intestine(8)|lung(26)|ovary(7)|pancreas(1)|prostate(6)|skin(2)|stomach(1)|urinary_tract(5) 70 TTGGCCACAGGACGCTGTGCA 0.627 3 12 --- --- --- --- MTUS1 57509 broad.mit.edu 37 8 17612416 17612416 + Missense_Mutation SNP C C G TCGA-QU-A6IP-01A-11D-A31L-08 TCGA-QU-A6IP-10A-01D-A31J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8522e5d6-2758-432a-a023-6e6dc07e9893 148f3b38-a40b-4815-a3b4-d00c41470ae4 g.chr8:17612416C>G ENST00000381869.3 - 2 1374 c.901G>C c.(901-903)Gtc>Ctc p.V301L MTUS1_ENST00000519263.1_Missense_Mutation_p.V301L|MTUS1_ENST00000381862.3_Missense_Mutation_p.V301L|MTUS1_ENST00000262102.6_Missense_Mutation_p.V301L NM_001001925.2 NP_001001925.1 Q9ULD2 MTUS1_HUMAN microtubule associated tumor suppressor 1 301 Golgi apparatus|microtubule|microtubule organizing center|mitochondrion|nucleus|plasma membrane|spindle breast(1)|central_nervous_system(1)|endometrium(4)|kidney(4)|large_intestine(14)|lung(8)|ovary(1)|skin(2)|urinary_tract(1) 36 Colorectal(111;0.0778) TCATTGGGGACTTCCATGCCA 0.433 4 144 --- --- --- --- GOLGA2 2801 broad.mit.edu 37 9 131019398 131019398 + Missense_Mutation SNP G G A TCGA-QU-A6IP-01A-11D-A31L-08 TCGA-QU-A6IP-10A-01D-A31J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8522e5d6-2758-432a-a023-6e6dc07e9893 148f3b38-a40b-4815-a3b4-d00c41470ae4 g.chr9:131019398G>A ENST00000421699.2 - 26 2969 c.2957C>T c.(2956-2958)cCt>cTt p.P986L GOLGA2_ENST00000609374.1_Missense_Mutation_p.P974L NM_004486.4 NP_004477.3 Q08379 GOGA2_HUMAN golgin A2 986 Golgi cisterna membrane protein binding NS(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(10)|lung(13)|ovary(2)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1) 34 GTAAAAAAAAGGAATGCAGGG 0.557 4 170 --- --- --- --- OR10G4 390264 broad.mit.edu 37 11 123886915 123886915 + Silent SNP C C T TCGA-QU-A6IP-01A-11D-A31L-08 TCGA-QU-A6IP-10A-01D-A31J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8522e5d6-2758-432a-a023-6e6dc07e9893 148f3b38-a40b-4815-a3b4-d00c41470ae4 g.chr11:123886915C>T ENST00000320891.4 + 1 634 c.634C>T c.(634-636)Ctg>Ttg p.L212L NM_001004462.1 NP_001004462.1 Q8NGN3 O10G4_HUMAN olfactory receptor, family 10, subfamily G, member 4 212 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity NS(1)|central_nervous_system(1)|endometrium(2)|kidney(4)|large_intestine(8)|lung(19)|ovary(1)|prostate(1)|skin(4)|stomach(6)|upper_aerodigestive_tract(1) 48 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;4.88e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0401) CTGCTTTGTCCTGATAGTGCT 0.562 24 95 --- --- --- --- PRB4 5545 broad.mit.edu 37 12 11461248 11461248 + Silent SNP C C T TCGA-QU-A6IP-01A-11D-A31L-08 TCGA-QU-A6IP-10A-01D-A31J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8522e5d6-2758-432a-a023-6e6dc07e9893 148f3b38-a40b-4815-a3b4-d00c41470ae4 g.chr12:11461248C>T ENST00000279575.1 - 3 702 c.669G>A c.(667-669)aaG>aaA p.K223K PRB4_ENST00000445719.2_Silent_p.K154K|PRB4_ENST00000535904.1_Silent_p.K223K NM_001261399.1|NM_002723.4 NP_001248328.1|NP_002714.2 P10163 PRB4_HUMAN proline-rich protein BstNI subfamily 4 286 9.5 X 21 AA tandem repeats of K-P-[EQ]- [GR]-[PR]-[PR]-P-Q-G-G-N-Q-[PS]-[QH]- [RG]-[PT]-P-P-[PH]-P-G. extracellular region breast(2)|endometrium(2)|kidney(2)|large_intestine(4)|lung(12)|ovary(1)|skin(4)|upper_aerodigestive_tract(3) 30 GCCCCTGGGGCTTTCCAGCAG 0.622 HNSCC(22;0.051) 43 132 --- --- --- --- PTGR2 145482 broad.mit.edu 37 14 74346776 74346776 + Missense_Mutation SNP A A G TCGA-QU-A6IP-01A-11D-A31L-08 TCGA-QU-A6IP-10A-01D-A31J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8522e5d6-2758-432a-a023-6e6dc07e9893 148f3b38-a40b-4815-a3b4-d00c41470ae4 g.chr14:74346776A>G ENST00000555661.1 + 7 893 c.748A>G c.(748-750)Atc>Gtc p.I250V RP5-1021I20.4_ENST00000556551.2_Missense_Mutation_p.I180V|PTGR2_ENST00000267568.4_Missense_Mutation_p.I250V|PTGR2_ENST00000555228.1_Missense_Mutation_p.I250V|PTGR2_ENST00000553813.1_Missense_Mutation_p.I116V Q8N8N7 PTGR2_HUMAN prostaglandin reductase 2 250 prostaglandin metabolic process 15-oxoprostaglandin 13-oxidase activity|zinc ion binding NS(1)|large_intestine(3)|lung(2)|prostate(1)|skin(2) 9 GAACAGCCACATCATCCTGTG 0.413 14 33 --- --- --- --- RYR3 6263 broad.mit.edu 37 15 34015067 34015067 + Silent SNP C C T TCGA-QU-A6IP-01A-11D-A31L-08 TCGA-QU-A6IP-10A-01D-A31J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8522e5d6-2758-432a-a023-6e6dc07e9893 148f3b38-a40b-4815-a3b4-d00c41470ae4 g.chr15:34015067C>T ENST00000389232.4 + 44 6841 c.6771C>T c.(6769-6771)gaC>gaT p.D2257D RYR3_ENST00000415757.3_Silent_p.D2257D NM_001036.3 NP_001027.3 Q15413 RYR3_HUMAN ryanodine receptor 3 2257 4 X approximate repeats. cellular calcium ion homeostasis integral to membrane calcium ion binding|receptor activity|ryanodine-sensitive calcium-release channel activity NS(3)|breast(9)|central_nervous_system(8)|cervix(2)|endometrium(29)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(55)|lung(148)|ovary(7)|pancreas(1)|prostate(13)|skin(4)|stomach(1)|upper_aerodigestive_tract(8)|urinary_tract(3) 311 all_lung(180;7.18e-09) all cancers(64;8.95e-12)|GBM - Glioblastoma multiforme(186;0.00109)|BRCA - Breast invasive adenocarcinoma(123;0.0363) CAGCGCTCGACCTCCCCTCTC 0.557 38 88 --- --- --- --- SSH2 85464 broad.mit.edu 37 17 27963447 27963447 + Missense_Mutation SNP T T C TCGA-QU-A6IP-01A-11D-A31L-08 TCGA-QU-A6IP-10A-01D-A31J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8522e5d6-2758-432a-a023-6e6dc07e9893 148f3b38-a40b-4815-a3b4-d00c41470ae4 g.chr17:27963447T>C ENST00000269033.3 - 14 1871 c.1720A>G c.(1720-1722)Aaa>Gaa p.K574E RP11-68I3.2_ENST00000581474.1_RNA|SSH2_ENST00000540801.1_Missense_Mutation_p.K601E NM_001282129.1|NM_033389.2 NP_001269058.1|NP_203747.2 Q76I76 SSH2_HUMAN slingshot protein phosphatase 2 574 actin cytoskeleton organization|regulation of actin polymerization or depolymerization|regulation of axonogenesis|regulation of lamellipodium assembly cytoplasm|cytoskeleton actin binding|protein tyrosine phosphatase activity|protein tyrosine/serine/threonine phosphatase activity SSH2/SUZ12(2) breast(1)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(5)|lung(16)|ovary(1)|prostate(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 39 ATTAAGGCTTTGGATGCATGG 0.403 3 52 --- --- --- --- RFX1 5989 broad.mit.edu 37 19 14083867 14083867 + Silent SNP G G A TCGA-QU-A6IP-01A-11D-A31L-08 TCGA-QU-A6IP-10A-01D-A31J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8522e5d6-2758-432a-a023-6e6dc07e9893 148f3b38-a40b-4815-a3b4-d00c41470ae4 g.chr19:14083867G>A ENST00000254325.4 - 9 1236 c.1002C>T c.(1000-1002)gcC>gcT p.A334A NM_002918.4 NP_002909.4 P22670 RFX1_HUMAN regulatory factor X, 1 (influences HLA class II expression) 334 immune response nucleus DNA binding|protein binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity NS(1)|breast(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(8)|ovary(2)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1) 21 OV - Ovarian serous cystadenocarcinoma(19;6.67e-23) CCGTGCCTGCGGCCTCGTAGT 0.667 12 37 --- --- --- --- NXF3 56000 broad.mit.edu 37 X 102337986 102337986 + Nonsense_Mutation SNP G G A TCGA-QU-A6IP-01A-11D-A31L-08 TCGA-QU-A6IP-10A-01D-A31J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8522e5d6-2758-432a-a023-6e6dc07e9893 148f3b38-a40b-4815-a3b4-d00c41470ae4 g.chrX:102337986G>A ENST00000395065.3 - 7 738 c.637C>T c.(637-639)Cag>Tag p.Q213* NXF3_ENST00000425463.2_Nonsense_Mutation_p.Q124*|NXF3_ENST00000425644.1_5'UTR NM_022052.1 NP_071335.1 Q9H4D5 NXF3_HUMAN nuclear RNA export factor 3 213 cytoplasm|nuclear RNA export factor complex nucleocytoplasmic transporter activity|nucleotide binding|protein binding NS(1)|central_nervous_system(1)|cervix(1)|kidney(1)|large_intestine(2)|lung(15)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1) 26 ACATCACACTGTTGGTTCATG 0.512 71 71 --- --- --- --- ACTRT1 139741 broad.mit.edu 37 X 127185962 127185962 + Missense_Mutation SNP T T G TCGA-QU-A6IP-01A-11D-A31L-08 TCGA-QU-A6IP-10A-01D-A31J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8522e5d6-2758-432a-a023-6e6dc07e9893 148f3b38-a40b-4815-a3b4-d00c41470ae4 g.chrX:127185962T>G ENST00000371124.3 - 1 420 c.224A>C c.(223-225)gAg>gCg p.E75A NM_138289.3 NP_612146.1 Q8TDG2 ACTT1_HUMAN actin-related protein T1 75 cytoplasm|cytoskeleton breast(1)|central_nervous_system(2)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(6)|lung(13)|ovary(2)|skin(3) 34 CAGTCCACGCTCAATGGGGTA 0.468 5 121 --- --- --- --- ACTRT1 139741 broad.mit.edu 37 X 127185963 127185963 + Nonsense_Mutation SNP C C A TCGA-QU-A6IP-01A-11D-A31L-08 TCGA-QU-A6IP-10A-01D-A31J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8522e5d6-2758-432a-a023-6e6dc07e9893 148f3b38-a40b-4815-a3b4-d00c41470ae4 g.chrX:127185963C>A ENST00000371124.3 - 1 419 c.223G>T c.(223-225)Gag>Tag p.E75* NM_138289.3 NP_612146.1 Q8TDG2 ACTT1_HUMAN actin-related protein T1 75 cytoplasm|cytoskeleton breast(1)|central_nervous_system(2)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(6)|lung(13)|ovary(2)|skin(3) 34 AGTCCACGCTCAATGGGGTAG 0.463 4 115 --- --- --- --- ATE1 11101 broad.mit.edu 37 10 123659394 123659395 + Frame_Shift_Ins INS - - GC TCGA-QU-A6IP-01A-11D-A31L-08 TCGA-QU-A6IP-10A-01D-A31J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8522e5d6-2758-432a-a023-6e6dc07e9893 148f3b38-a40b-4815-a3b4-d00c41470ae4 g.chr10:123659394_123659395insGC ENST00000535655.1 - 5 983_984 c.31_32insGC c.(31-33)ccafs p.P11fs ATE1_ENST00000369040.3_Intron|ATE1_ENST00000224652.6_Frame_Shift_Ins_p.P310fs|ATE1_ENST00000543447.1_Frame_Shift_Ins_p.P195fs|ATE1_ENST00000481784.1_Intron|ATE1_ENST00000540606.1_Intron|ATE1_ENST00000369043.3_Intron O95260 ATE1_HUMAN arginyltransferase 1 310 AGGSPSV -> GGGFAAS (in Ref. 4; AAD12366). protein arginylation cytoplasm|nucleus acyltransferase activity|arginyltransferase activity endometrium(2)|kidney(2)|large_intestine(2)|lung(6)|upper_aerodigestive_tract(1)|urinary_tract(1) 14 all_neural(114;0.061)|Lung NSC(174;0.095)|all_lung(145;0.124)|Breast(234;0.212) GCTTTCGGTTGGCGTATCAGGT 0.431 15 71 --- --- --- --- ARMC5 79798 broad.mit.edu 37 16 31473879 31473881 + In_Frame_Del DEL TAA TAA - TCGA-QU-A6IP-01A-11D-A31L-08 TCGA-QU-A6IP-10A-01D-A31J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8522e5d6-2758-432a-a023-6e6dc07e9893 148f3b38-a40b-4815-a3b4-d00c41470ae4 g.chr16:31473879_31473881delTAA ENST00000457010.2 + 3 1712_1714 c.1011_1013delTAA c.(1009-1014)cctaat>cct p.N338del ARMC5_ENST00000408912.3_In_Frame_Del_p.N433del|ARMC5_ENST00000563544.1_In_Frame_Del_p.N338del|ARMC5_ENST00000538189.1_In_Frame_Del_p.N370del|ARMC5_ENST00000268314.4_In_Frame_Del_p.N338del|ARMC5_ENST00000412665.2_Intron NM_024742.2 NP_079018.1 Q96C12 ARMC5_HUMAN armadillo repeat containing 5 338 binding central_nervous_system(1)|endometrium(4)|large_intestine(3)|liver(2)|lung(12)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1) 28 GCCGGGATCCTAATGGAGCTAGC 0.660 9 69 --- --- --- ---