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 ZCCHC5 203430 broad.mit.edu 37 X 77912899 77912899 + Missense_Mutation SNP G G T TCGA-FY-A3R6-01A-11D-A21Z-08 TCGA-FY-A3R6-10A-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5dbf4f84-4b1b-4370-9905-078d55c18835 66eb2d32-79e5-4d4d-8c5b-6a0e04ab346a g.chrX:77912899G>T uc004edc.1 - 1 1315 c.1019C>A c.(1018-1020)gCa>gAa p.A340E ZCCHC5_uc022bzi.1_Missense_Mutation_p.A340E NM_152694 NP_689907 Q8N8U3 ZCHC5_HUMAN Homo sapiens zinc finger, CCHC domain containing 5 (ZCCHC5), mRNA. 340 nucleic acid binding|zinc ion binding breast(3)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(3)|large_intestine(6)|lung(18)|ovary(1)|prostate(1)|skin(1) 37 GAAGTGGGTTGCTACATGACC 0.453000 8 43 0 0 1 0 0 REPS1 85021 broad.mit.edu 37 6 139266690 139266690 + Missense_Mutation SNP T T C TCGA-FY-A3R6-01A-11D-A21Z-08 TCGA-FY-A3R6-10A-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5dbf4f84-4b1b-4370-9905-078d55c18835 66eb2d32-79e5-4d4d-8c5b-6a0e04ab346a g.chr6:139266690T>C uc003qii.3 - 2 1001 c.422A>G c.(421-423)aAg>aGg p.K141R REPS1_uc003qig.4_Missense_Mutation_p.K141R|REPS1_uc011edr.2_Missense_Mutation_p.K141R|REPS1_uc003qij.3_Missense_Mutation_p.K141R|REPS1_uc003qik.3_5'UTR NM_031922 NP_114128 Q96D71 REPS1_HUMAN Homo sapiens RALBP1 associated Eps domain containing 1 (REPS1), transcript variant 1, mRNA. 141 coated pit|plasma membrane SH3 domain binding|calcium ion binding breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(5)|lung(8)|upper_aerodigestive_tract(2) 19 GBM - Glioblastoma multiforme(68;0.000434)|OV - Ovarian serous cystadenocarcinoma(155;0.000548) TACGGATCCCTTTTTCACTTG 0.478000 5 351 0 0 1 0 0 SLC12A4 6560 broad.mit.edu 37 16 67988622 67988622 + Missense_Mutation SNP G G A TCGA-FY-A3R6-01A-11D-A21Z-08 TCGA-FY-A3R6-10A-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5dbf4f84-4b1b-4370-9905-078d55c18835 66eb2d32-79e5-4d4d-8c5b-6a0e04ab346a g.chr16:67988622G>A uc010vkj.1 - 4 645 c.605C>T c.(604-606)gCt>gTt p.A202V SLC12A4_uc010ceu.2_Missense_Mutation_p.A194V|SLC12A4_uc010vkh.1_Missense_Mutation_p.A169V|SLC12A4_uc002euz.2_Missense_Mutation_p.A200V|SLC12A4_uc010vki.1_Missense_Mutation_p.A200V|SLC12A4_uc002eva.2_Missense_Mutation_p.A200V|SLC12A4_uc002evb.2_Non-coding_Transcript|SLC12A4_uc010cew.1_Missense_Mutation_p.A83V NM_001145962 NP_001139434 Q9UP95 S12A4_HUMAN Homo sapiens solute carrier family 12 (potassium/chloride transporters), member 4 (SLC12A4), transcript variant 3, mRNA. 200 cell volume homeostasis|potassium ion transport|sodium ion transport integral to plasma membrane|membrane fraction potassium:chloride symporter activity breast(3)|central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(3)|lung(2)|ovary(2)|prostate(4)|skin(2)|urinary_tract(3) 29 Ovarian(137;0.192) OV - Ovarian serous cystadenocarcinoma(108;0.0042)|Epithelial(162;0.0185)|all cancers(182;0.121) Bumetanide(DB00887)|Potassium Chloride(DB00761) CAGGCCCACAGCACCTCCAAA 0.552000 3 100 0 0 1 0 0 C11orf87 399947 broad.mit.edu 37 11 109294541 109294541 + Missense_Mutation SNP C C T TCGA-FY-A3R6-01A-11D-A21Z-08 TCGA-FY-A3R6-10A-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5dbf4f84-4b1b-4370-9905-078d55c18835 66eb2d32-79e5-4d4d-8c5b-6a0e04ab346a g.chr11:109294541C>T uc010rwb.2 + 1 585 c.182C>T c.(181-183)aCg>aTg p.T61M C11orf87_uc021qqf.1_Missense_Mutation_p.T61M NM_207645 NP_997528 Q6NUJ2 CK087_HUMAN Homo sapiens chromosome 11 open reading frame 87 (C11orf87), mRNA. 61 integral to membrane breast(2)|endometrium(1)|large_intestine(5)|lung(5)|ovary(2)|prostate(1)|urinary_tract(1) 17 TTCTCCTCCACGCTGGTGCTG 0.612000 13 66 0 0 1 0 0 A2ML1 144568 broad.mit.edu 37 12 8988135 8988135 + Silent SNP G G A TCGA-FY-A3R6-01A-11D-A21Z-08 TCGA-FY-A3R6-10A-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5dbf4f84-4b1b-4370-9905-078d55c18835 66eb2d32-79e5-4d4d-8c5b-6a0e04ab346a g.chr12:8988135G>A uc001quz.4 + 5 614 c.516G>A c.(514-516)ctG>ctA p.L172L NM_144670 NP_653271 B3KVV6 B3KVV6_HUMAN Homo sapiens alpha-2-macroglobulin-like 1 (A2ML1), mRNA. 16 extracellular space endopeptidase inhibitor activity NS(2)|breast(5)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(18)|liver(2)|lung(36)|ovary(2)|skin(4)|stomach(1)|urinary_tract(1) 80 CACAGTGGCTGGAAGTGGTAC 0.532000 4 166 0 0 1 0 0 GLYCTK 132158 broad.mit.edu 37 3 52326848 52326848 + Silent SNP G G C TCGA-FY-A3R6-01A-11D-A21Z-08 TCGA-FY-A3R6-10A-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5dbf4f84-4b1b-4370-9905-078d55c18835 66eb2d32-79e5-4d4d-8c5b-6a0e04ab346a g.chr3:52326848G>C uc003ddo.3 + 4 1374 c.1278G>C c.(1276-1278)ctG>ctC p.L426L GLYCTK_uc003ddq.2_3'UTR|GLYCTK_uc003ddm.3_Intron|GLYCTK_uc003ddn.3_Intron|GLYCTK_uc003ddp.1_Intron|GLYCTK_uc003ddr.3_Silent_p.L90L NM_145262 NP_660305 Q8IVS8 GLCTK_HUMAN Homo sapiens glycerate kinase (GLYCTK), transcript variant 1, mRNA. 426 protein phosphorylation Golgi apparatus|mitochondrion ATP binding|glycerate kinase activity|protein binding NS(1)|breast(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(3)|urinary_tract(1) 9 BRCA - Breast invasive adenocarcinoma(193;3.56e-05)|Kidney(197;0.00171)|KIRC - Kidney renal clear cell carcinoma(197;0.00194)|OV - Ovarian serous cystadenocarcinoma(275;0.235) ACCAGGAACTGGCCCTGCGTG 0.657000 30 87 0 0 1 0 0 CFTR 1080 broad.mit.edu 37 7 117175426 117175426 + Missense_Mutation SNP T T C TCGA-FY-A3R6-01A-11D-A21Z-08 TCGA-FY-A3R6-10A-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5dbf4f84-4b1b-4370-9905-078d55c18835 66eb2d32-79e5-4d4d-8c5b-6a0e04ab346a g.chr7:117175426T>C uc003vjd.3 + 5 836 c.704T>C c.(703-705)cTt>cCt p.L235P CFTR_uc011knq.2_5'UTR NM_000492 NP_000483 P13569 CFTR_HUMAN Homo sapiens cystic fibrosis transmembrane conductance regulator (ATP-binding cassette sub-family C, member 7) (CFTR), mRNA. 235 ABC transmembrane type-1 1. respiratory gaseous exchange apical plasma membrane|basolateral plasma membrane|chloride channel complex|early endosome membrane ATP binding|ATP-binding and phosphorylation-dependent chloride channel activity|PDZ domain binding|channel-conductance-controlling ATPase activity|chloride channel regulator activity|enzyme binding NS(1)|breast(2)|central_nervous_system(2)|cervix(1)|endometrium(5)|kidney(6)|large_intestine(15)|lung(22)|ovary(2)|pancreas(1)|prostate(3)|skin(9) 69 Lung NSC(10;0.00148)|all_lung(10;0.00171) STAD - Stomach adenocarcinoma(10;0.000534) Bumetanide(DB00887)|Glibenclamide(DB01016) GTCCTTGCCCTTTTTCAGGCT 0.438000 Cystic Fibrosis 3 117 0 0 1 0 0 KIAA1609 57707 broad.mit.edu 37 16 84520509 84520509 + Missense_Mutation SNP G G A TCGA-FY-A3R6-01A-11D-A21Z-08 TCGA-FY-A3R6-10A-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5dbf4f84-4b1b-4370-9905-078d55c18835 66eb2d32-79e5-4d4d-8c5b-6a0e04ab346a g.chr16:84520509G>A uc002fib.3 - 4 793 c.686C>T c.(685-687)aCc>aTc p.T229I KIAA1609_uc010vod.2_Missense_Mutation_p.T202I NM_020947 NP_065998 Q6P9B6 K1609_HUMAN Homo sapiens KIAA1609 (KIAA1609), mRNA. 229 protein binding endometrium(1)|kidney(1)|large_intestine(6)|lung(4)|ovary(2)|prostate(1)|skin(1)|stomach(2) 18 AGGGACCAGGGTAGTCAGATC 0.562000 3 69 0 0 1 0 0 PRMT2 3275 broad.mit.edu 37 21 48069639 48069639 + Silent SNP G G A TCGA-FY-A3R6-01A-11D-A21Z-08 TCGA-FY-A3R6-10A-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5dbf4f84-4b1b-4370-9905-078d55c18835 66eb2d32-79e5-4d4d-8c5b-6a0e04ab346a g.chr21:48069639G>A uc002zjx.3 + 6 976 c.642G>A c.(640-642)ggG>ggA p.G214G PRMT2_uc021wkc.1_Silent_p.G214G|PRMT2_uc002zjw.3_Silent_p.G214G|PRMT2_uc002zjy.3_Silent_p.G214G|PRMT2_uc010gqm.3_Silent_p.G214G|PRMT2_uc011aga.2_Silent_p.G214G|PRMT2_uc011agb.2_Silent_p.G214G|PRMT2_uc011agc.2_Silent_p.G214G|PRMT2_uc002zjz.1_Silent_p.G100G NM_206962 NP_996845 P55345 ANM2_HUMAN Homo sapiens protein arginine methyltransferase 2 (PRMT2), transcript variant 1, mRNA. 214 Interaction with ESR1. developmental cell growth|induction of apoptosis|negative regulation of G1/S transition of mitotic cell cycle|negative regulation of NF-kappaB transcription factor activity|negative regulation of transcription, DNA-dependent|positive regulation of transcription, DNA-dependent|regulation of androgen receptor signaling pathway cytosol|nucleus androgen receptor binding|estrogen receptor binding|histone-arginine N-methyltransferase activity|peroxisome proliferator activated receptor binding|progesterone receptor binding|protein homodimerization activity|retinoic acid receptor binding|signal transducer activity|thyroid hormone receptor binding|transcription coactivator activity NS(1)|breast(3)|endometrium(2)|large_intestine(2)|lung(5)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1) 16 Breast(49;0.247) Lung NSC(3;0.245) Epithelial(3;1.03e-07)|OV - Ovarian serous cystadenocarcinoma(3;4.68e-07)|all cancers(3;7.48e-07)|Colorectal(79;0.167)|Lung(125;0.203)|LUSC - Lung squamous cell carcinoma(216;0.23)|READ - Rectum adenocarcinoma(84;0.248) AGTGGATGGGGACCTGCCTGC 0.657000 3 37 0 0 1 0 0 ADAMTS6 11174 broad.mit.edu 37 5 64629869 64629869 + Splice_Site SNP C C T TCGA-FY-A3R6-01A-11D-A21Z-08 TCGA-FY-A3R6-10A-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5dbf4f84-4b1b-4370-9905-078d55c18835 66eb2d32-79e5-4d4d-8c5b-6a0e04ab346a g.chr5:64629869C>T uc003jtp.3 - 8 1931 c.1117_splice c.e8+1 p.G373_splice ADAMTS6_uc003jto.3_Splice_Site|ADAMTS6_uc003jtq.3_Splice_Site|ADAMTS6_uc003jtr.1_Splice_Site NM_197941 NP_922932 Q9UKP5 ATS6_HUMAN Homo sapiens ADAM metallopeptidase with thrombospondin type 1 motif, 6 (ADAMTS6), mRNA. 373 Peptidase M12B. proteolysis proteinaceous extracellular matrix metalloendopeptidase activity|zinc ion binding breast(2)|cervix(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(7)|pancreas(1)|prostate(1)|skin(3) 18 Lung NSC(167;2.44e-06)|Prostate(74;0.014)|Ovarian(174;0.0549)|Breast(144;0.111)|Colorectal(97;0.235) Lung(70;0.00942) aaaaaCTTACCCAGTGTTCCA 0.259000 17 47 0 0 1 0 0 RNF186 54546 broad.mit.edu 37 1 20141106 20141106 + Silent SNP G G A TCGA-FY-A3R6-01A-11D-A21Z-08 TCGA-FY-A3R6-10A-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5dbf4f84-4b1b-4370-9905-078d55c18835 66eb2d32-79e5-4d4d-8c5b-6a0e04ab346a g.chr1:20141106G>A uc001bcr.3 - 0 666 c.489C>T c.(487-489)gcC>gcT p.A163A NM_019062 NP_061935 Q9NXI6 RN186_HUMAN Homo sapiens ring finger protein 186 (RNF186), mRNA. 163 integral to membrane zinc ion binding kidney(1)|lung(3)|urinary_tract(1) 5 Colorectal(325;0.000147)|Renal(390;0.000469)|all_lung(284;0.00459)|Lung NSC(340;0.00475)|Breast(348;0.00526)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0439) UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|COAD - Colon adenocarcinoma(152;1.07e-05)|BRCA - Breast invasive adenocarcinoma(304;7.77e-05)|Kidney(64;0.000162)|GBM - Glioblastoma multiforme(114;0.00036)|KIRC - Kidney renal clear cell carcinoma(64;0.00258)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649) TAATGAGCAAGGCCAGCAGGA 0.607000 6 161 0 0 1 0 0 SIRT4 23409 broad.mit.edu 37 12 120741654 120741654 + Missense_Mutation SNP G G A TCGA-FY-A3R6-01A-11D-A21Z-08 TCGA-FY-A3R6-10A-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5dbf4f84-4b1b-4370-9905-078d55c18835 66eb2d32-79e5-4d4d-8c5b-6a0e04ab346a g.chr12:120741654G>A uc001tyc.3 + 1 349 c.290G>A c.(289-291)cGg>cAg p.R97Q NM_012240 NP_036372 Q9Y6E7 SIRT4_HUMAN Homo sapiens sirtuin 4 (SIRT4), mRNA. 97 Deacetylase sirtuin-type. chromatin silencing|negative regulation of insulin secretion|protein ADP-ribosylation|protein deacetylation mitochondrial matrix NAD+ ADP-ribosyltransferase activity|NAD+ binding|hydrolase activity, acting on carbon-nitrogen (but not peptide) bonds, in linear amides|protein binding|zinc ion binding haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(3) 9 all_neural(191;0.0804)|Medulloblastoma(191;0.0922) GATTTTGTCCGGAGTGCCCCA 0.582000 3 44 0 0 1 0 0 PWWP2A 114825 broad.mit.edu 37 5 159520656 159520656 + Missense_Mutation SNP T T C TCGA-FY-A3R6-01A-11D-A21Z-08 TCGA-FY-A3R6-10A-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5dbf4f84-4b1b-4370-9905-078d55c18835 66eb2d32-79e5-4d4d-8c5b-6a0e04ab346a g.chr5:159520656T>C uc011ded.2 - 1 1058 c.1001A>G c.(1000-1002)aAg>aGg p.K334R PWWP2A_uc003lxv.4_Missense_Mutation_p.K334R|PWWP2A_uc011dec.2_Missense_Mutation_p.K334R NM_001130864 NP_001124336 Q96N64 PWP2A_HUMAN Homo sapiens PWWP domain containing 2A (PWWP2A), transcript variant 2, mRNA. 334 kidney(1)|large_intestine(1)|lung(2)|upper_aerodigestive_tract(1) 5 Renal(175;0.00196) Medulloblastoma(196;0.0354)|all_neural(177;0.138) Kidney(164;7.83e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525) TCTAATTTCCTTTTTTTCAGC 0.333000 3 63 0 0 1 0 0 CARD10 29775 broad.mit.edu 37 22 37888680 37888680 + Missense_Mutation SNP G G A TCGA-FY-A3R6-01A-11D-A21Z-08 TCGA-FY-A3R6-10A-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5dbf4f84-4b1b-4370-9905-078d55c18835 66eb2d32-79e5-4d4d-8c5b-6a0e04ab346a g.chr22:37888680G>A uc003asx.1 - 16 2623 c.2606C>T c.(2605-2607)tCc>tTc p.S869F CARD10_uc003ast.1_Non-coding_Transcript|CARD10_uc003asu.1_5'Flank|CARD10_uc003asv.1_5'UTR|CARD10_uc011ank.1_Missense_Mutation_p.S187F|CARD10_uc003asw.1_Missense_Mutation_p.S583F|CARD10_uc003asy.1_Missense_Mutation_p.S869F NM_014550 NP_055365 Q9BWT7 CAR10_HUMAN Homo sapiens caspase recruitment domain family, member 10 (CARD10), mRNA. 869 activation of NF-kappaB-inducing kinase activity|protein complex assembly|regulation of apoptosis CBM complex receptor signaling complex scaffold activity NS(1)|breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(5)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1) 17 Melanoma(58;0.0574) GTCCAGCCGGGAGCTGGGCAG 0.682000 6 32 0 0 1 0 0 FAT2 2196 broad.mit.edu 37 5 150925516 150925516 + Silent SNP C C T TCGA-FY-A3R6-01A-11D-A21Z-08 TCGA-FY-A3R6-10A-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5dbf4f84-4b1b-4370-9905-078d55c18835 66eb2d32-79e5-4d4d-8c5b-6a0e04ab346a g.chr5:150925516C>T uc003lue.4 - 8 5185 c.5172G>A c.(5170-5172)tcG>tcA p.S1724S NM_001447 NP_001438 Q9NYQ8 FAT2_HUMAN Homo sapiens FAT tumor suppressor homolog 2 (Drosophila) (FAT2), mRNA. 1724 Cadherin 15. epithelial cell migration|homophilic cell adhesion cell-cell adherens junction|integral to membrane|nucleus calcium ion binding NS(6)|breast(3)|central_nervous_system(3)|cervix(5)|endometrium(15)|haematopoietic_and_lymphoid_tissue(4)|kidney(8)|large_intestine(61)|liver(1)|lung(60)|ovary(6)|prostate(5)|skin(5)|stomach(2)|upper_aerodigestive_tract(11)|urinary_tract(1) 196 Medulloblastoma(196;0.0912)|all_hematologic(541;0.104) KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101) GCTGGTAAGACGAGATTTTCT 0.413000 28 148 0 0 1 0 0 EPB41L3 23136 broad.mit.edu 37 18 5395089 5395089 + Missense_Mutation SNP C C T TCGA-FY-A3R6-01A-11D-A21Z-08 TCGA-FY-A3R6-10A-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5dbf4f84-4b1b-4370-9905-078d55c18835 66eb2d32-79e5-4d4d-8c5b-6a0e04ab346a g.chr18:5395089C>T uc002kmt.1 - 20 3216 c.3130G>A c.(3130-3132)Gat>Aat p.D1044N EPB41L3_uc010wzh.1_Missense_Mutation_p.D875N|EPB41L3_uc002kmu.1_Missense_Mutation_p.D822N|EPB41L3_uc010dkq.1_Missense_Mutation_p.D713N|EPB41L3_uc002kms.1_Missense_Mutation_p.D279N|EPB41L3_uc010wze.1_Missense_Mutation_p.D349N|EPB41L3_uc010wzf.1_Missense_Mutation_p.D341N|EPB41L3_uc010wzg.1_Missense_Mutation_p.D316N|EPB41L3_uc010dkr.2_Missense_Mutation_p.D436N NM_012307 NP_036439 Q9Y2J2 E41L3_HUMAN Homo sapiens erythrocyte membrane protein band 4.1-like 3 (EPB41L3), mRNA. 1044 Carboxyl-terminal (CTD). cortical actin cytoskeleton organization cell-cell junction|cytoplasm|cytoskeleton|extrinsic to membrane actin binding|structural molecule activity p.G1043W(1) breast(1)|central_nervous_system(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(24)|lung(52)|ovary(5)|prostate(4)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1) 105 ATGTCTGCATCCCCCGTGATG 0.443000 21 100 0 0 1 0 0 LETM1 3954 broad.mit.edu 37 4 1838262 1838262 + Missense_Mutation SNP G G A TCGA-FY-A3R6-01A-11D-A21Z-08 TCGA-FY-A3R6-10A-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5dbf4f84-4b1b-4370-9905-078d55c18835 66eb2d32-79e5-4d4d-8c5b-6a0e04ab346a g.chr4:1838262G>A uc003gdv.3 - 3 929 c.632C>T c.(631-633)cCg>cTg p.P211L LETM1_uc010icc.3_5'UTR|LETM1_uc011bvg.2_Missense_Mutation_p.P211L NM_012318 NP_036450 O95202 LETM1_HUMAN Homo sapiens leucine zipper-EF-hand containing transmembrane protein 1 (LETM1), nuclear gene encoding mitochondrial protein, mRNA. 211 LETM1. cristae formation integral to membrane|mitochondrial inner membrane calcium ion binding|protein binding breast(3)|central_nervous_system(2)|large_intestine(3)|lung(3)|prostate(1)|urinary_tract(1) 13 all cancers(2;0.00756)|OV - Ovarian serous cystadenocarcinoma(23;0.00989)|Epithelial(3;0.0141) CACAAGGAACGGCACCAGGCG 0.562000 31 125 0 0 1 0 0 KRTAP10-7 386675 broad.mit.edu 37 21 46021268 46021268 + Silent SNP T T G TCGA-FY-A3R6-01A-11D-A21Z-08 TCGA-FY-A3R6-10A-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5dbf4f84-4b1b-4370-9905-078d55c18835 66eb2d32-79e5-4d4d-8c5b-6a0e04ab346a g.chr21:46021268T>G uc002zfn.4 + 1 757 c.732T>G c.(730-732)tcT>tcG p.S244S TSPEAR_uc002zfe.1_Intron|TSPEAR_uc010gpv.1_Intron NM_198689 NP_941962 P60409 KR107_HUMAN Homo sapiens keratin associated protein 10-7 (KRTAP10-7), mRNA. 249 30 X 5 AA repeats of C-C-X(3). keratin filament breast(1)|large_intestine(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(1) 8 CCACCTGCTCTGATGATTCCG 0.642000 52 243 0 0 1 0 0 EIF4H 7458 broad.mit.edu 37 7 73609165 73609165 + Silent SNP T T C TCGA-FY-A3R6-01A-11D-A21Z-08 TCGA-FY-A3R6-10A-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5dbf4f84-4b1b-4370-9905-078d55c18835 66eb2d32-79e5-4d4d-8c5b-6a0e04ab346a g.chr7:73609165T>C uc003uad.1 + 5 572 c.564T>C c.(562-564)ccT>ccC p.P188P EIF4H_uc003uae.1_Silent_p.P168P NM_022170 NP_071496 Q15056 IF4H_HUMAN Homo sapiens eukaryotic translation initiation factor 4H (EIF4H), transcript variant 1, mRNA. 188 interspecies interaction between organisms|regulation of translational initiation cytosol|eukaryotic translation initiation factor 4F complex|perinuclear region of cytoplasm nucleotide binding|protein binding|translation initiation factor activity endometrium(1)|lung(2)|prostate(1) 4 GAGATGGCCCTCCCCTCCGTG 0.617000 3 76 0 0 1 0 0 USP20 10868 broad.mit.edu 37 9 132631703 132631703 + Splice_Site SNP G G A TCGA-FY-A3R6-01A-11D-A21Z-08 TCGA-FY-A3R6-10A-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5dbf4f84-4b1b-4370-9905-078d55c18835 66eb2d32-79e5-4d4d-8c5b-6a0e04ab346a g.chr9:132631703G>A uc004bys.2 + 13 1603 c.1392_splice c.e13+1 p.R464_splice USP20_uc004byr.2_Splice_Site_p.R464_splice|USP20_uc004byt.1_Splice_Site_p.R464_splice NM_001110303 NP_006667 Q9Y2K6 UBP20_HUMAN Homo sapiens ubiquitin specific peptidase 20 (USP20), transcript variant 3, mRNA. 464 endocytosis|protein K48-linked deubiquitination|protein K63-linked deubiquitination|regulation of G-protein coupled receptor protein signaling pathway|ubiquitin-dependent protein catabolic process perinuclear region of cytoplasm G-protein-coupled receptor binding|cysteine-type endopeptidase activity|ubiquitin thiolesterase activity|zinc ion binding breast(1)|endometrium(2)|large_intestine(3)|lung(4)|urinary_tract(1) 11 Ovarian(14;0.00556) ACCTGTGACCGGGTGGGTGCC 0.667000 3 94 0 0 1 0 0