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 BMS1P20 96610 broad.mit.edu 37 22 22663271 22663271 + RNA SNP A A G TCGA-QR-A6H5-01A-11D-A35D-08 TCGA-QR-A6H5-10A-01D-A35B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 03b4fb36-83b8-4482-9847-313f5b25fe61 61abdecd-d8a4-4784-a6e9-c4ff8e355a37 g.chr22:22663271A>G ENST00000426066.1 + 0 623 NR_027293.1 TGGGCCTCATATTTTTAGAAA 0.259000 3 11 0 0 1 0 0 SPANXN2 494119 broad.mit.edu 37 X 142795397 142795397 + Missense_Mutation SNP C C A TCGA-QR-A6H5-01A-11D-A35D-08 TCGA-QR-A6H5-10A-01D-A35B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 03b4fb36-83b8-4482-9847-313f5b25fe61 61abdecd-d8a4-4784-a6e9-c4ff8e355a37 g.chrX:142795397C>A ENST00000370498.1 - 2 1034 c.281G>T c.(280-282)gGa>gTa p.G94V NM_001009615.1 NP_001009615.1 Q5MJ10 SPXN2_HUMAN SPANX family, member N2 94 p.G94V(1)|p.I76I(1) NS(1)|breast(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(17)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1) 27 Acute lymphoblastic leukemia(192;6.56e-05) CTGTGAAGATCCTTCAGCTGA 0.502000 7 471 5.18039e-06 5.75599e-06 1 1 0 ALMS1 7840 broad.mit.edu 37 2 73675507 73675507 + Missense_Mutation SNP C C T TCGA-QR-A6H5-01A-11D-A35D-08 TCGA-QR-A6H5-10A-01D-A35B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 03b4fb36-83b8-4482-9847-313f5b25fe61 61abdecd-d8a4-4784-a6e9-c4ff8e355a37 g.chr2:73675507C>T ENST00000264448.6 + 8 1961 c.1850C>T c.(1849-1851)aCc>aTc p.T617I ALMS1_ENST00000409009.1_Missense_Mutation_p.T575I|ALMS1_ENST00000377715.1_Missense_Mutation_p.T617I NM_015120.4 NP_055935.4 Q8TCU4 ALMS1_HUMAN Alstrom syndrome 1 617 34 X 47 AA approximate tandem repeat. G2/M transition of mitotic cell cycle centrosome|cilium|cytosol|microtubule basal body|spindle pole breast(4)|endometrium(14)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(31)|lung(68)|ovary(4)|pancreas(4)|prostate(3)|skin(8)|upper_aerodigestive_tract(1)|urinary_tract(2) 147 TCAACTCTAACCTCTACTTCC 0.463000 28 117 0 0 1 0 0 COL11A2 1302 broad.mit.edu 37 6 33147561 33147561 + Missense_Mutation SNP C C G TCGA-QR-A6H5-01A-11D-A35D-08 TCGA-QR-A6H5-10A-01D-A35B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 03b4fb36-83b8-4482-9847-313f5b25fe61 61abdecd-d8a4-4784-a6e9-c4ff8e355a37 g.chr6:33147561C>G ENST00000341947.2 - 13 1608 c.1381G>C c.(1381-1383)Ggt>Cgt p.G461R COL11A2_ENST00000374712.1_Missense_Mutation_p.G380R|COL11A2_ENST00000374708.4_Missense_Mutation_p.G375R|COL11A2_ENST00000361917.1_Missense_Mutation_p.G354R|COL11A2_ENST00000395197.1_Missense_Mutation_p.G401R|COL11A2_ENST00000374713.1_Missense_Mutation_p.G414R|COL11A2_ENST00000374714.1_Missense_Mutation_p.G435R|COL11A2_ENST00000357486.1_Missense_Mutation_p.G440R NM_080680.2 NP_542411.2 P13942 COBA2_HUMAN collagen, type XI, alpha 2 461 Nonhelical region. cartilage development|cell adhesion|collagen fibril organization|sensory perception of sound|soft palate development collagen type XI extracellular matrix structural constituent conferring tensile strength|protein binding, bridging biliary_tract(1)|breast(1)|cervix(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(13)|liver(1)|lung(27)|ovary(5)|prostate(5)|skin(6) 68 CCCTTGTCACCCCCACCACTG 0.637000 3 43 0 0 1 0 0 SIK1 150094 broad.mit.edu 37 21 44837473 44837473 + Silent SNP G G A TCGA-QR-A6H5-01A-11D-A35D-08 TCGA-QR-A6H5-10A-01D-A35B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 03b4fb36-83b8-4482-9847-313f5b25fe61 61abdecd-d8a4-4784-a6e9-c4ff8e355a37 g.chr21:44837473G>A ENST00000270162.6 - 13 2058 c.1926C>T c.(1924-1926)gcC>gcT p.A642A NM_173354.3 NP_775490.2 P57059 SIK1_HUMAN salt-inducible kinase 1 642 anoikis|cell cycle|cell differentiation|intracellular protein kinase cascade|multicellular organismal development|regulation of cell differentiation|regulation of mitotic cell cycle nucleus ATP binding|magnesium ion binding|protein binding|protein serine/threonine kinase activity breast(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(6)|ovary(1)|prostate(1)|skin(2)|testis(2)|urinary_tract(1) 21 CCCGGCTGCCGGCTGCGCCGC 0.756000 4 7 0 0 1 0 0 FEM1B 10116 broad.mit.edu 37 15 68581943 68581943 + Splice_Site SNP A A G rs111343207 TCGA-QR-A6H5-01A-11D-A35D-08 TCGA-QR-A6H5-10A-01D-A35B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 03b4fb36-83b8-4482-9847-313f5b25fe61 61abdecd-d8a4-4784-a6e9-c4ff8e355a37 g.chr15:68581943A>G ENST00000306917.4 + 2 863 c.e2-1 NM_015322.3 NP_056137.1 Q9UK73 FEM1B_HUMAN fem-1 homolog b (C. elegans) apoptosis|induction of apoptosis|regulation of DNA damage checkpoint|regulation of ubiquitin-protein ligase activity cytoplasm|nucleus death receptor binding|ubiquitin-protein ligase activity endometrium(1)|kidney(1)|large_intestine(1)|lung(4)|ovary(1)|urinary_tract(1) 9 TTTCATGTGTAGGTATGTCAT 0.453000 7 25 0 0 1 0 0 CXADR 1525 broad.mit.edu 37 21 18937753 18937753 + Missense_Mutation SNP G G A TCGA-QR-A6H5-01A-11D-A35D-08 TCGA-QR-A6H5-10A-01D-A35B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 03b4fb36-83b8-4482-9847-313f5b25fe61 61abdecd-d8a4-4784-a6e9-c4ff8e355a37 g.chr21:18937753G>A ENST00000284878.7 + 7 1589 c.841G>A c.(841-843)Gtg>Atg p.V281M CXADR_ENST00000400166.1_Missense_Mutation_p.M193I|CXADR_ENST00000306618.10_Missense_Mutation_p.V240M|CXADR_ENST00000400169.1_Missense_Mutation_p.V281M|CXADR_ENST00000400165.1_Missense_Mutation_p.M141I|CXADR_ENST00000356275.6_Missense_Mutation_p.C73Y NM_001338.4 NP_001329.1 P78310 CXAR_HUMAN coxsackie virus and adenovirus receptor 281 blood coagulation|cell adhesion|interspecies interaction between organisms|leukocyte migration|regulation of immune response adherens junction|basolateral plasma membrane|extracellular region|integral to plasma membrane|nucleus|tight junction receptor activity endometrium(2)|large_intestine(5)|lung(1)|ovary(1)|prostate(2) 11 Epithelial(23;0.000206)|all cancers(11;0.000302)|OV - Ovarian serous cystadenocarcinoma(11;0.0194)|Lung(58;0.0233)|COAD - Colon adenocarcinoma(22;0.0389)|Colorectal(24;0.0483)|LUSC - Lung squamous cell carcinoma(23;0.0782) CAGGGAAGATGTGCCACCTCC 0.438000 13 52 0 0 1 0 0 VHL 7428 broad.mit.edu 37 3 10191489 10191489 + Missense_Mutation SNP G G A TCGA-QR-A6H5-01A-11D-A35D-08 TCGA-QR-A6H5-10A-01D-A35B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 03b4fb36-83b8-4482-9847-313f5b25fe61 61abdecd-d8a4-4784-a6e9-c4ff8e355a37 g.chr3:10191489G>A ENST00000256474.2 + 3 1322 c.482G>A c.(481-483)cGa>cAa p.R161Q VHL_ENST00000345392.2_Missense_Mutation_p.R120Q|VHL_ENST00000477538.1_3'UTR NM_000551.3 NP_000542.1 P40337 VHL_HUMAN von Hippel-Lindau tumor suppressor, E3 ubiquitin protein ligase 161 Interaction with Elongin BC complex. R -> G (in VHLD; type II; dbSNP:rs5030818).|R -> P (in pheochromocytoma and VHLD; type I).|R -> Q (in pheochromocytoma and VHLD; type II). anti-apoptosis|cell morphogenesis|negative regulation of cell proliferation|negative regulation of transcription from RNA polymerase II promoter|positive regulation of cell differentiation|positive regulation of transcription, DNA-dependent|protein stabilization|protein ubiquitination|proteolysis cytosol|endoplasmic reticulum|membrane|mitochondrion|nucleus protein binding|transcription factor binding p.R161P(4)|p.R161del(1)|p.R161fs*12(1)|p.E160fs*9(1)|p.C162fs*12(1)|p.?fs(1)|p.C162fs*9(1)|p.L158fs*6(1)|p.R161Q(1) adrenal_gland(25)|autonomic_ganglia(3)|central_nervous_system(2)|endometrium(6)|kidney(1662)|large_intestine(14)|lung(6)|pancreas(18)|paratesticular_tissues(1)|pleura(1)|skin(1)|soft_tissue(24)|thyroid(3)|upper_aerodigestive_tract(3) 1769 Kidney(1;0.000404)|KIRC - Kidney renal clear cell carcinoma(1;0.000569) CTGAAAGAGCGATGCCTCCAG 0.502000 1 """D, Mis, N, F, S""" """renal, hemangioma, pheochromocytoma""" """renal, hemangioma, pheochromocytoma""" von Hippel-Lindau disease;Pheochromocytoma (Adrenal), Familial;Chuvash Polycythemia 10 19 0 0 1 0 0 ANKRD20A8P 729171 broad.mit.edu 37 2 95522815 95522815 + RNA SNP A A G TCGA-QR-A6H5-01A-11D-A35D-08 TCGA-QR-A6H5-10A-01D-A35B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 03b4fb36-83b8-4482-9847-313f5b25fe61 61abdecd-d8a4-4784-a6e9-c4ff8e355a37 g.chr2:95522815A>G ENST00000432432.2 - 0 212 NR_040113.1 ATCTTCTGCAATTCGGAGTCC 0.652000 5 47 0 0 1 0 0 UBB 7314 broad.mit.edu 37 17 16285491 16285491 + Silent SNP C C T rs16962973 TCGA-QR-A6H5-01A-11D-A35D-08 TCGA-QR-A6H5-10A-01D-A35B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 03b4fb36-83b8-4482-9847-313f5b25fe61 61abdecd-d8a4-4784-a6e9-c4ff8e355a37 g.chr17:16285491C>T ENST00000302182.3 + 2 662 c.270C>T c.(268-270)acC>acT p.T90T UBB_ENST00000395837.1_Silent_p.T90T|UBB_ENST00000395839.1_Silent_p.T90T|UBB_ENST00000578649.1_Intron|UBB_ENST00000535788.1_Intron|RP11-138I1.4_ENST00000583934.1_RNA NM_018955.2 NP_061828.1 P0CG47 UBB_HUMAN ubiquitin B 90 Ubiquitin-like 2. activation of MAPK activity|anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|anti-apoptosis|apoptosis|cellular membrane organization|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|DNA repair|endosome transport|epidermal growth factor receptor signaling pathway|G1/S transition of mitotic cell cycle|I-kappaB kinase/NF-kappaB cascade|induction of apoptosis by extracellular signals|innate immune response|JNK cascade|M/G1 transition of mitotic cell cycle|mRNA metabolic process|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|negative regulation of epidermal growth factor receptor signaling pathway|negative regulation of type I interferon production|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|nerve growth factor receptor signaling pathway|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of NF-kappaB transcription factor activity|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|S phase of mitotic cell cycle|stress-activated MAPK cascade|T cell receptor signaling pathway|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway|viral reproduction cytosol|endocytic vesicle membrane|endosome membrane|nucleoplasm|plasma membrane protein binding breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(2)|lung(3)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1) 16 UCEC - Uterine corpus endometrioid carcinoma (92;0.0822) AGACCATCACCCTGGAAGTGG 0.552000 6 117 0 0 1 0 0 POM121L9P 29774 broad.mit.edu 37 22 24659734 24659734 + RNA SNP T T C TCGA-QR-A6H5-01A-11D-A35D-08 TCGA-QR-A6H5-10A-01D-A35B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 03b4fb36-83b8-4482-9847-313f5b25fe61 61abdecd-d8a4-4784-a6e9-c4ff8e355a37 g.chr22:24659734T>C ENST00000414583.2 + 0 3259 NR_003714.1 CTCTCTCCTGTGGGAGGGGGG 0.632000 3 14 0 0 1 0 0 SMARCC2 6601 broad.mit.edu 37 12 56578857 56578857 + Missense_Mutation SNP C C T TCGA-QR-A6H5-01A-11D-A35D-08 TCGA-QR-A6H5-10A-01D-A35B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 03b4fb36-83b8-4482-9847-313f5b25fe61 61abdecd-d8a4-4784-a6e9-c4ff8e355a37 g.chr12:56578857C>T ENST00000394023.3 - 4 461 c.356G>A c.(355-357)cGc>cAc p.R119H SMARCC2_ENST00000550164.1_Missense_Mutation_p.R119H|SMARCC2_ENST00000550859.1_5'UTR|SMARCC2_ENST00000347471.4_Missense_Mutation_p.R119H|RP11-977G19.5_ENST00000553176.1_RNA|SMARCC2_ENST00000267064.4_Missense_Mutation_p.R119H NM_001130420.1 NP_001123892.1 Q8TAQ2 SMRC2_HUMAN SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily c, member 2 119 chromatin remodeling|negative regulation of transcription, DNA-dependent|nervous system development|positive regulation of transcription, DNA-dependent|regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent nBAF complex|npBAF complex|nucleoplasm|SWI/SNF complex DNA binding|protein binding|transcription coactivator activity breast(1)|central_nervous_system(3)|endometrium(6)|kidney(3)|large_intestine(3)|lung(20)|ovary(1)|skin(2)|soft_tissue(1)|upper_aerodigestive_tract(1) 41 OV - Ovarian serous cystadenocarcinoma(18;0.123) TTCCACATTGCGGTCCATGCG 0.468000 4 143 0 0 1 0 0 BMS1P20 96610 broad.mit.edu 37 22 22663260 22663260 + RNA SNP A A G TCGA-QR-A6H5-01A-11D-A35D-08 TCGA-QR-A6H5-10A-01D-A35B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 03b4fb36-83b8-4482-9847-313f5b25fe61 61abdecd-d8a4-4784-a6e9-c4ff8e355a37 g.chr22:22663260A>G ENST00000426066.1 + 0 623 NR_027293.1 CCTCTAAAATATGGGCCTCAT 0.249000 3 14 0 0 1 0 0 C20orf85 128602 broad.mit.edu 37 20 56730543 56730543 + Missense_Mutation SNP A A G TCGA-QR-A6H5-01A-11D-A35D-08 TCGA-QR-A6H5-10A-01D-A35B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 03b4fb36-83b8-4482-9847-313f5b25fe61 61abdecd-d8a4-4784-a6e9-c4ff8e355a37 g.chr20:56730543A>G ENST00000371168.3 + 3 231 c.170A>G c.(169-171)gAt>gGt p.D57G NM_178456.2 NP_848551.1 Q9H1P6 CT085_HUMAN chromosome 20 open reading frame 85 57 kidney(1)|large_intestine(2)|lung(6)|ovary(1)|skin(2)|urinary_tract(1) 13 all_epithelial(3;5.99e-14)|Lung NSC(12;0.000152)|all_lung(29;0.000518)|Melanoma(10;0.118) BRCA - Breast invasive adenocarcinoma(13;5.53e-12)|Epithelial(14;7.42e-08)|all cancers(14;7.19e-07) TGTGAAGAAGATCTCCCCACC 0.493000 8 44 0 0 1 0 0 SLC35G3 146861 broad.mit.edu 37 17 33520392 33520392 + Missense_Mutation SNP G G C TCGA-QR-A6H5-01A-11D-A35D-08 TCGA-QR-A6H5-10A-01D-A35B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 03b4fb36-83b8-4482-9847-313f5b25fe61 61abdecd-d8a4-4784-a6e9-c4ff8e355a37 g.chr17:33520392G>C ENST00000297307.5 - 1 1020 c.935C>G c.(934-936)gCg>gGg p.A312G NM_152462.2 NP_689675.1 Q8N808 AMAC1_HUMAN solute carrier family 35, member G3 312 DUF6 2. integral to membrane p.A312G(4) AACCCCTGCCGCCACGATGTC 0.567000 4 126 0 0 1 0 0 AC023347.1 0 broad.mit.edu 37 2 127069389 127069389 + RNA DEL A A - TCGA-QR-A6H5-01A-11D-A35D-08 TCGA-QR-A6H5-10A-01D-A35B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 03b4fb36-83b8-4482-9847-313f5b25fe61 61abdecd-d8a4-4784-a6e9-c4ff8e355a37 g.chr2:127069389delA ENST00000435352.1 + 0 136 CTGTTCCATTATCATTTTTAT 0.343 2 4 --- --- --- --- ZNF717 100131827 broad.mit.edu 37 3 75790810 75790811 + Frame_Shift_Ins INS - - T rs76346895 TCGA-QR-A6H5-01A-11D-A35D-08 TCGA-QR-A6H5-10A-01D-A35B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 03b4fb36-83b8-4482-9847-313f5b25fe61 61abdecd-d8a4-4784-a6e9-c4ff8e355a37 g.chr3:75790810_75790811insT ENST00000422325.1 - 3 456_457 c.134_135insA c.(133-135)actfs p.T45fs ZNF717_ENST00000478296.1_5'UTR|ZNF717_ENST00000400845.3_Frame_Shift_Ins_p.T38fs|ZNF717_ENST00000477374.1_Frame_Shift_Ins_p.T45fs|ZNF717_ENST00000491507.1_5'UTR NM_001128223.1 NP_001121695.1 C9JSV9 C9JSV9_HUMAN zinc finger protein 717 45 regulation of transcription, DNA-dependent intracellular nucleic acid binding|zinc ion binding autonomic_ganglia(6)|endometrium(3)|lung(2)|ovary(1)|stomach(7) 19 CCCTGTACAGGGTCCTCTGAGC 0.510 4 7 --- --- --- --- RP11-478C19.2 0 broad.mit.edu 37 12 110868215 110868216 + RNA DEL GT GT - rs113592903 TCGA-QR-A6H5-01A-11D-A35D-08 TCGA-QR-A6H5-10A-01D-A35B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 03b4fb36-83b8-4482-9847-313f5b25fe61 61abdecd-d8a4-4784-a6e9-c4ff8e355a37 g.chr12:110868215_110868216delGT ENST00000550231.1 - 0 97 CAgtgtgtgcgtgtgtgtgtgt 0.490 5 4 --- --- --- --- DDHD1 80821 broad.mit.edu 37 14 53619480 53619481 + In_Frame_Ins INS - - GCCGCC rs140904345 by1000genomes TCGA-QR-A6H5-01A-11D-A35D-08 TCGA-QR-A6H5-10A-01D-A35B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 03b4fb36-83b8-4482-9847-313f5b25fe61 61abdecd-d8a4-4784-a6e9-c4ff8e355a37 g.chr14:53619480_53619481insGCCGCC ENST00000357758.3 - 1 519_520 c.336_337insGGCGGC c.(334-339)gggctc>ggGGCGGCgctc p.112_113GL>GAAL DDHD1_ENST00000395606.1_In_Frame_Ins_p.112_113GL>GAAL|DDHD1_ENST00000323669.5_In_Frame_Ins_p.112_113GL>GAAL NM_030637.2 NP_085140.2 Q8NEL9 DDHD1_HUMAN DDHD domain containing 1 112 lipid catabolic process cytoplasm hydrolase activity|metal ion binding breast(2)|cervix(1)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(4)|lung(11)|ovary(3)|prostate(1) 25 Breast(41;0.037) GACAAGGAGCTGCCGCCGCCGC 0.703 4 4 --- --- --- --- RP11-308D16.4 0 broad.mit.edu 37 X 136030244 136030245 + RNA INS - - T TCGA-QR-A6H5-01A-11D-A35D-08 TCGA-QR-A6H5-10A-01D-A35B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 03b4fb36-83b8-4482-9847-313f5b25fe61 61abdecd-d8a4-4784-a6e9-c4ff8e355a37 g.chrX:136030244_136030245insT ENST00000424306.1 + 0 2052 TGAGAACCTGCTTTTTTTTTTT 0.441 3 3 --- --- --- ---