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 FLNA 0 broad.mit.edu 37 X 153590835 153590835 + Missense_Mutation SNP G G A TCGA-DJ-A3UM-01A-11D-A22D-08 TCGA-DJ-A3UM-10A-01D-A22D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 920558c4-24b2-41c0-8b2f-02d174d20e39 6ed58898-d4aa-4a0e-be59-25b1e8fbcca9 g.chrX:153590835G>A ENST00000422373.1 - 17 2764 c.2516C>T c.(2515-2517)aCg>aTg p.T839M FLNA_ENST00000344736.4_Missense_Mutation_p.T839M|FLNA_ENST00000369850.3_Missense_Mutation_p.T839M|FLNA_ENST00000360319.4_Missense_Mutation_p.T839M NM_001456.3 NP_001447.2 P21333 FLNA_HUMAN filamin A, alpha 839 actin crosslink formation|actin cytoskeleton reorganization|cell junction assembly|cytoplasmic sequestering of protein|establishment of protein localization|inhibition of adenylate cyclase activity by dopamine receptor signaling pathway|negative regulation of protein catabolic process|negative regulation of sequence-specific DNA binding transcription factor activity|platelet activation|platelet degranulation|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of transcription factor import into nucleus|protein localization at cell surface|protein stabilization|receptor clustering cell cortex|cytosol|extracellular region|nucleus|plasma membrane actin filament binding|Fc-gamma receptor I complex binding|glycoprotein binding|GTP-Ral binding|protein homodimerization activity|Rac GTPase binding|signal transducer activity|transcription factor binding breast(6) 6 all_cancers(53;3.7e-16)|all_epithelial(53;2.97e-10)|all_lung(58;1.84e-07)|Lung NSC(58;5.84e-07)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176) CCCCCGGGGCGTGTACTTGAC 0.592000 19 149 0 0 1 0 0 RLIM 51132 broad.mit.edu 37 X 73811995 73811995 + Silent SNP G G A TCGA-DJ-A3UM-01A-11D-A22D-08 TCGA-DJ-A3UM-10A-01D-A22D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 920558c4-24b2-41c0-8b2f-02d174d20e39 6ed58898-d4aa-4a0e-be59-25b1e8fbcca9 g.chrX:73811995G>A ENST00000332687.6 - 4 1373 c.1155C>T c.(1153-1155)ccC>ccT p.P385P RLIM_ENST00000349225.2_Silent_p.P385P NM_016120.3 NP_057204.2 Q9NVW2 RNF12_HUMAN ring finger protein, LIM domain interacting 385 random inactivation of X chromosome|transcription, DNA-dependent|ubiquitin-dependent protein catabolic process cytoplasm|transcriptional repressor complex transcription corepressor activity|ubiquitin-protein ligase activity|zinc ion binding breast(1)|endometrium(3)|kidney(1)|large_intestine(3)|lung(14)|ovary(2)|prostate(4)|upper_aerodigestive_tract(1)|urinary_tract(1) 30 TTCTACGAATGGGAATTCTGA 0.413000 4 98 0 0 1 0 0 MT-CO1 4512 broad.mit.edu 37 MT 6578 6578 + Missense_Mutation SNP A A G TCGA-DJ-A3UM-01A-11D-A22D-08 TCGA-DJ-A3UM-10A-01D-A22D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 920558c4-24b2-41c0-8b2f-02d174d20e39 6ed58898-d4aa-4a0e-be59-25b1e8fbcca9 g.chrM:6578A>G ENST00000361624.2 + 1 675 c.675A>G c.(673-675)ggA>ggG p.225_225insG mitochondrially encoded cytochrome c oxidase I breast(4)|endometrium(25)|kidney(19)|lung(3)|prostate(3) 54 CCCGCCGGAGGAGGAGACCCC 0.478000 8 295 0 0 1 0 0 HLA-DQB2 3120 broad.mit.edu 37 6 32725567 32725567 + Missense_Mutation SNP C C T rs114234640 byFrequency TCGA-DJ-A3UM-01A-11D-A22D-08 TCGA-DJ-A3UM-10A-01D-A22D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 920558c4-24b2-41c0-8b2f-02d174d20e39 6ed58898-d4aa-4a0e-be59-25b1e8fbcca9 g.chr6:32725567C>T ENST00000435145.2 - 4 801 c.740G>A c.(739-741)cGt>cAt p.R247H HLA-DQB2_ENST00000411527.1_Intron|HLA-DQB2_ENST00000437316.2_Missense_Mutation_p.R247H Q5SR06 Q5SR06_HUMAN major histocompatibility complex, class II, DQ beta 2 216 antigen processing and presentation of peptide or polysaccharide antigen via MHC class II|immune response integral to membrane|MHC class II protein complex endometrium(1)|kidney(1)|lung(1)|prostate(2) 5 ACCCCTGTGACGGATGATAAG 0.552000 3 27 0 0 1 0 0 BRAF 673 broad.mit.edu 37 7 140453136 140453136 + Missense_Mutation SNP A A T rs121913377 TCGA-DJ-A3UM-01A-11D-A22D-08 TCGA-DJ-A3UM-10A-01D-A22D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 920558c4-24b2-41c0-8b2f-02d174d20e39 6ed58898-d4aa-4a0e-be59-25b1e8fbcca9 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 29 53 0 0 1 0 0 NLRP9 338321 broad.mit.edu 37 19 56244558 56244558 + Silent SNP G G A TCGA-DJ-A3UM-01A-11D-A22D-08 TCGA-DJ-A3UM-10A-01D-A22D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 920558c4-24b2-41c0-8b2f-02d174d20e39 6ed58898-d4aa-4a0e-be59-25b1e8fbcca9 g.chr19:56244558G>A ENST00000332836.2 - 2 666 c.639C>T c.(637-639)atC>atT p.I213I NM_176820.2 NP_789790.2 Q7RTR0 NALP9_HUMAN NLR family, pyrin domain containing 9 213 NACHT. cytoplasm ATP binding NS(2)|breast(5)|cervix(1)|endometrium(7)|kidney(8)|large_intestine(15)|lung(21)|ovary(2)|prostate(3)|skin(7)|urinary_tract(3) 74 Colorectal(82;0.000133)|Ovarian(87;0.133) GBM - Glioblastoma multiforme(193;0.123) AAATGTCTTCGATCTTCTCTG 0.443000 4 27 0 0 1 0 0 ZNF835 90485 broad.mit.edu 37 19 57175063 57175063 + Missense_Mutation SNP G G A TCGA-DJ-A3UM-01A-11D-A22D-08 TCGA-DJ-A3UM-10A-01D-A22D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 920558c4-24b2-41c0-8b2f-02d174d20e39 6ed58898-d4aa-4a0e-be59-25b1e8fbcca9 g.chr19:57175063G>A ENST00000537055.2 - 2 1735 c.1504C>T c.(1504-1506)Cgc>Tgc p.R502C NM_001005850.2 NP_001005850.2 zinc finger protein 835 endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(10)|lung(22)|pancreas(3)|prostate(3)|skin(1)|stomach(1)|upper_aerodigestive_tract(3) 47 GGGCAAAGGCGTCCCGAACTG 0.647000 5 190 0 0 1 0 0 ZNF844 284391 broad.mit.edu 37 19 12187275 12187275 + Missense_Mutation SNP G G C TCGA-DJ-A3UM-01A-11D-A22D-08 TCGA-DJ-A3UM-10A-01D-A22D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 920558c4-24b2-41c0-8b2f-02d174d20e39 6ed58898-d4aa-4a0e-be59-25b1e8fbcca9 g.chr19:12187275G>C ENST00000439326.3 + 4 1515 c.1340G>C c.(1339-1341)cGt>cCt p.R447P ZNF844_ENST00000441304.2_3'UTR NM_001136501.1 NP_001129973.1 Q08AG5 ZN844_HUMAN zinc finger protein 844 447 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding p.R447P(1) NS(1)|breast(2)|central_nervous_system(1)|endometrium(2)|kidney(2)|lung(1)|prostate(1) 10 GAGAGAAACCGTATGAGTGTA 0.433000 4 66 0 0 1 0 0 DNAH5 1767 broad.mit.edu 37 5 13708384 13708384 + Missense_Mutation SNP C C T TCGA-DJ-A3UM-01A-11D-A22D-08 TCGA-DJ-A3UM-10A-01D-A22D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 920558c4-24b2-41c0-8b2f-02d174d20e39 6ed58898-d4aa-4a0e-be59-25b1e8fbcca9 g.chr5:13708384C>T ENST00000265104.4 - 76 13290 c.13186G>A c.(13186-13188)Gaa>Aaa p.E4396K NM_001369.2 NP_001360.1 Q8TE73 DYH5_HUMAN dynein, axonemal, heavy chain 5 4396 microtubule-based movement cilium axoneme|cytoplasm|microtubule ATP binding|ATPase activity|microtubule motor activity NS(6)|breast(14)|central_nervous_system(4)|cervix(2)|endometrium(23)|haematopoietic_and_lymphoid_tissue(8)|kidney(11)|large_intestine(85)|liver(1)|lung(129)|ovary(16)|pancreas(2)|prostate(5)|skin(48)|stomach(5)|upper_aerodigestive_tract(11)|urinary_tract(8) 378 Lung NSC(4;0.00476) CTGTCTATTTCCTGCCTGAGG 0.473000 Kartagener syndrome 4 141 0 0 1 0 0 MT-ND4 4538 broad.mit.edu 37 MT 11184 11184 + Missense_Mutation SNP G G A TCGA-DJ-A3UM-01A-11D-A22D-08 TCGA-DJ-A3UM-10A-01D-A22D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 920558c4-24b2-41c0-8b2f-02d174d20e39 6ed58898-d4aa-4a0e-be59-25b1e8fbcca9 g.chrM:11184G>A ENST00000361381.2 + 1 425 c.425G>A c.(424-426)cGc>cAc p.142_142insH mitochondrially encoded NADH dehydrogenase 4 breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(4)|prostate(1) 13 CCAGCCAGAACGCCTGAACGC 0.463000 8 319 0 0 1 0 0 HLA-DQB2 3120 broad.mit.edu 37 6 32725559 32725559 + Missense_Mutation SNP C C T rs113761247 byFrequency TCGA-DJ-A3UM-01A-11D-A22D-08 TCGA-DJ-A3UM-10A-01D-A22D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 920558c4-24b2-41c0-8b2f-02d174d20e39 6ed58898-d4aa-4a0e-be59-25b1e8fbcca9 g.chr6:32725559C>T ENST00000435145.2 - 4 809 c.748G>A c.(748-750)Ggt>Agt p.G250S HLA-DQB2_ENST00000411527.1_Intron|HLA-DQB2_ENST00000437316.2_Missense_Mutation_p.G250S Q5SR06 Q5SR06_HUMAN major histocompatibility complex, class II, DQ beta 2 216 antigen processing and presentation of peptide or polysaccharide antigen via MHC class II|immune response integral to membrane|MHC class II protein complex endometrium(1)|kidney(1)|lung(1)|prostate(2) 5 CCTTTCTGACCCCTGTGACGG 0.552000 3 29 0 0 1 0 0 RRN3P2 0 broad.mit.edu 37 16 29110438 29110438 + RNA SNP T T C TCGA-DJ-A3UM-01A-11D-A22D-08 TCGA-DJ-A3UM-10A-01D-A22D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 920558c4-24b2-41c0-8b2f-02d174d20e39 6ed58898-d4aa-4a0e-be59-25b1e8fbcca9 g.chr16:29110438T>C ENST00000564580.1 + 0 1111 p.L368P(6) TTGCAGTATCTTCAGAGTCTG 0.328000 3 50 0 0 1 0 0 MT-TL1 0 broad.mit.edu 37 MT 3244 3244 + RNA SNP G G A TCGA-DJ-A3UM-01A-11D-A22D-08 TCGA-DJ-A3UM-10A-01D-A22D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 920558c4-24b2-41c0-8b2f-02d174d20e39 6ed58898-d4aa-4a0e-be59-25b1e8fbcca9 g.chrM:3244G>A ENST00000386347.1 + 0 15 aagatggcagagcccggtaat 0.438000 48 220 0 0 1 0 0 MT-CO1 4512 broad.mit.edu 37 MT 6175 6175 + Missense_Mutation SNP A A G TCGA-DJ-A3UM-01A-11D-A22D-08 TCGA-DJ-A3UM-10A-01D-A22D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 920558c4-24b2-41c0-8b2f-02d174d20e39 6ed58898-d4aa-4a0e-be59-25b1e8fbcca9 g.chrM:6175A>G ENST00000361624.2 + 1 272 c.272A>G c.(271-273)gAt>gGt p.91_91insG mitochondrially encoded cytochrome c oxidase I breast(4)|endometrium(25)|kidney(19)|lung(3)|prostate(3) 54 CGGTGCCCCCGATATGGCGTT 0.488000 91 100 0 0 1 0 0 ESPNP 0 broad.mit.edu 37 1 17038456 17038459 + RNA DEL CCTC CCTC - rs66935947 TCGA-DJ-A3UM-01A-11D-A22D-08 TCGA-DJ-A3UM-10A-01D-A22D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 920558c4-24b2-41c0-8b2f-02d174d20e39 6ed58898-d4aa-4a0e-be59-25b1e8fbcca9 g.chr1:17038456_17038459delCCTC ENST00000492551.1 - 0 194 NR_026567.1 TGTCCCTCTGCCTCCCTCCCTCCC 0.608 3 4 --- --- --- --- AC128709.2 0 broad.mit.edu 37 3 197186538 197186539 + RNA INS - - G rs111705519 TCGA-DJ-A3UM-01A-11D-A22D-08 TCGA-DJ-A3UM-10A-01D-A22D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 920558c4-24b2-41c0-8b2f-02d174d20e39 6ed58898-d4aa-4a0e-be59-25b1e8fbcca9 g.chr3:197186538_197186539insG ENST00000420213.1 + 0 138 TGTGGTCGGGAGGGATGCAGTT 0.589 3 6 --- --- --- --- CTC-419K13.1 0 broad.mit.edu 37 5 73816044 73816046 + RNA DEL AGG AGG - TCGA-DJ-A3UM-01A-11D-A22D-08 TCGA-DJ-A3UM-10A-01D-A22D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 920558c4-24b2-41c0-8b2f-02d174d20e39 6ed58898-d4aa-4a0e-be59-25b1e8fbcca9 g.chr5:73816044_73816046delAGG ENST00000507781.1 - 0 307 GGTGGGGGGCaggaggaggagga 0.473 2 4 --- --- --- --- TSGA10IP 254187 broad.mit.edu 37 11 65715748 65715751 + RNA DEL CATC CATC - rs585897 TCGA-DJ-A3UM-01A-11D-A22D-08 TCGA-DJ-A3UM-10A-01D-A22D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 920558c4-24b2-41c0-8b2f-02d174d20e39 6ed58898-d4aa-4a0e-be59-25b1e8fbcca9 g.chr11:65715748_65715751delCATC ENST00000532620.1 + 0 1382 Q3SY00 T10IP_HUMAN testis specific, 10 interacting protein endometrium(2)|kidney(3)|lung(9) 14 ACTTTTGGATcatccatccatcca 0.422 2 4 --- --- --- --- RP11-897M7.1 0 broad.mit.edu 37 12 131962092 131962093 + RNA INS - - ATA TCGA-DJ-A3UM-01A-11D-A22D-08 TCGA-DJ-A3UM-10A-01D-A22D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 920558c4-24b2-41c0-8b2f-02d174d20e39 6ed58898-d4aa-4a0e-be59-25b1e8fbcca9 g.chr12:131962092_131962093insATA ENST00000535133.1 - 0 195 tggtaatggtggtggtgatggt 0.361 3 5 --- --- --- --- TMC8 147138 broad.mit.edu 37 17 76134248 76134248 + Frame_Shift_Del DEL C C - TCGA-DJ-A3UM-01A-11D-A22D-08 TCGA-DJ-A3UM-10A-01D-A22D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 920558c4-24b2-41c0-8b2f-02d174d20e39 6ed58898-d4aa-4a0e-be59-25b1e8fbcca9 g.chr17:76134248delC ENST00000318430.5 + 12 1886 c.1512delC c.(1510-1512)ttfs p.F504fs TMC8_ENST00000589691.1_Frame_Shift_Del_p.F281fs NM_152468.4 NP_689681.2 Q8IU68 TMC8_HUMAN transmembrane channel-like 8 504 endoplasmic reticulum membrane|integral to membrane breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(2)|ovary(1)|prostate(1)|skin(1)|urinary_tract(1) 12 BRCA - Breast invasive adenocarcinoma(99;0.00269)|Lung(188;0.0973)|OV - Ovarian serous cystadenocarcinoma(97;0.192) TCTTCCTCTTCCTCACCTTCT 0.617 12 119 --- --- --- ---