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 ACBD5 91452 broad.mit.edu 37 10 27499972 27499972 + Silent SNP C C T TCGA-E1-A7YY-01A-11D-A34J-08 TCGA-E1-A7YY-10A-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx c2415587-d4b6-4b6b-983f-8c3017ba2f09 ac126c0b-e17f-481c-8331-dc355f8ae993 g.chr10:27499972C>T ENST00000396271.3 - 9 1101 c.975G>A c.(973-975)caG>caA p.Q325Q ACBD5_ENST00000375897.3_Silent_p.Q148Q|ACBD5_ENST00000375901.1_Silent_p.Q216Q|ACBD5_ENST00000476758.1_5'UTR|ACBD5_ENST00000375905.4_Silent_p.Q290Q|ACBD5_ENST00000375888.1_Silent_p.Q334Q NM_145698.3 NP_663736.2 Q5T8D3 ACBD5_HUMAN acyl-CoA binding domain containing 5 334 transport integral to membrane|peroxisomal membrane fatty-acyl-CoA binding breast(1)|endometrium(1)|large_intestine(3)|lung(7)|prostate(1) 13 CCAAGTAATACTGAAATGGTC 0.373000 8 68 0 0 1 0 0 FAM65A 79567 broad.mit.edu 37 16 67575406 67575406 + Missense_Mutation SNP C C T TCGA-E1-A7YY-01A-11D-A34J-08 TCGA-E1-A7YY-10A-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx c2415587-d4b6-4b6b-983f-8c3017ba2f09 ac126c0b-e17f-481c-8331-dc355f8ae993 g.chr16:67575406C>T ENST00000540839.3 + 12 1155 c.935C>T c.(934-936)gCc>gTc p.A312V FAM65A_ENST00000422602.2_Missense_Mutation_p.A312V|FAM65A_ENST00000428437.2_Missense_Mutation_p.A306V|FAM65A_ENST00000379312.3_Missense_Mutation_p.A296V|FAM65A_ENST00000042381.4_Missense_Mutation_p.A292V Q6ZS17 FA65A_HUMAN family with sequence similarity 65, member A 296 cytoplasm binding central_nervous_system(2)|endometrium(3)|kidney(2)|large_intestine(12)|lung(12)|ovary(2)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1) 39 Acute lymphoblastic leukemia(13;3.76e-06)|all_hematologic(13;0.000303)|Ovarian(137;0.0563) OV - Ovarian serous cystadenocarcinoma(108;0.0474)|Epithelial(162;0.117) GACCTGTTTGCCGCCCTGCCC 0.572000 4 163 0 0 1 0 0 RASGRP3 25780 broad.mit.edu 37 2 33747057 33747057 + Missense_Mutation SNP G G A TCGA-E1-A7YY-01A-11D-A34J-08 TCGA-E1-A7YY-10A-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx c2415587-d4b6-4b6b-983f-8c3017ba2f09 ac126c0b-e17f-481c-8331-dc355f8ae993 g.chr2:33747057G>A ENST00000403687.3 + 7 1144 c.404G>A c.(403-405)aGg>aAg p.R135K RASGRP3_ENST00000402538.3_Missense_Mutation_p.R135K|RASGRP3_ENST00000407811.1_Missense_Mutation_p.R135K NM_001139488.1 NP_001132960.1 Q8IV61 GRP3_HUMAN RAS guanyl releasing protein 3 (calcium and DAG-regulated) 135 MAPKKK cascade|small GTPase mediated signal transduction integral to plasma membrane|intracellular calcium ion binding|diacylglycerol binding|guanyl-nucleotide exchange factor activity|protein binding|Rap GTPase activator activity|signal transducer activity large_intestine(3)|lung(3)|ovary(2)|pancreas(1)|stomach(2) 11 all_hematologic(175;0.115) GTCACACAGAGGAAAAAAGTA 0.418000 8 86 0 0 1 0 0 CIC 23152 broad.mit.edu 37 19 42791715 42791715 + Missense_Mutation SNP C C T TCGA-E1-A7YY-01A-11D-A34J-08 TCGA-E1-A7YY-10A-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx c2415587-d4b6-4b6b-983f-8c3017ba2f09 ac126c0b-e17f-481c-8331-dc355f8ae993 g.chr19:42791715C>T ENST00000572681.2 + 6 3396 c.3328C>T c.(3328-3330)Cgg>Tgg p.R1110W CIC_ENST00000575354.2_Missense_Mutation_p.R201W|CIC_ENST00000160740.3_Missense_Mutation_p.R201W Q96RK0 CIC_HUMAN capicua transcriptional repressor 201 Pro-rich. regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|protein binding p.R201W(1) autonomic_ganglia(1)|breast(5)|central_nervous_system(32)|endometrium(10)|kidney(2)|large_intestine(7)|lung(9)|ovary(7)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2) 82 Prostate(69;0.00682) GGACCACATCCGGCGGCCCAT 0.622000 """Mis, F, S""" oligodendroglioma 4 37 0 0 1 0 0 AMMECR1 9949 broad.mit.edu 37 X 109459810 109459810 + Missense_Mutation SNP C C T TCGA-E1-A7YY-01A-11D-A34J-08 TCGA-E1-A7YY-10A-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx c2415587-d4b6-4b6b-983f-8c3017ba2f09 ac126c0b-e17f-481c-8331-dc355f8ae993 g.chrX:109459810C>T ENST00000262844.5 - 3 802 c.635G>A c.(634-636)cGg>cAg p.R212Q AMMECR1_ENST00000372057.1_Missense_Mutation_p.R89Q|AMMECR1_ENST00000372059.2_Missense_Mutation_p.R175Q NM_015365.2 NP_056180.1 Q9Y4X0 AMER1_HUMAN Alport syndrome, mental retardation, midface hypoplasia and elliptocytosis chromosomal region gene 1 212 AMMECR1. large_intestine(1)|lung(4)|ovary(1)|stomach(1) 7 GCAGAAAAGCCGTGGCAGCTC 0.378000 3 58 0 0 1 0 0 TAOK2 9344 broad.mit.edu 37 16 29994404 29994404 + Silent SNP C C G TCGA-E1-A7YY-01A-11D-A34J-08 TCGA-E1-A7YY-10A-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx c2415587-d4b6-4b6b-983f-8c3017ba2f09 ac126c0b-e17f-481c-8331-dc355f8ae993 g.chr16:29994404C>G ENST00000308893.4 + 12 2054 c.1011C>G c.(1009-1011)ccC>ccG p.P337P TAOK2_ENST00000543033.1_Silent_p.P337P|TAOK2_ENST00000416441.2_Silent_p.P164P|TAOK2_ENST00000279394.3_Silent_p.P337P NM_001252043.1|NM_016151.3 NP_001238972.1|NP_057235.2 Q9UL54 TAOK2_HUMAN TAO kinase 2 337 actin cytoskeleton organization|activation of MAPKK activity|apoptosis|cell migration|focal adhesion assembly|positive regulation of JNK cascade|protein targeting to membrane|regulation of cell growth|regulation of cell shape|response to stress cytoplasmic vesicle membrane|cytoskeleton|dendrite|integral to membrane|nucleolus ATP binding|protein serine/threonine kinase activity breast(1)|endometrium(3)|large_intestine(5)|lung(8)|ovary(1)|prostate(3)|skin(1) 22 AGGCCGAGCCCTACATGCACC 0.632000 8 143 0 0 1 0 0 TKTL2 84076 broad.mit.edu 37 4 164393861 164393861 + Silent SNP C C A TCGA-E1-A7YY-01A-11D-A34J-08 TCGA-E1-A7YY-10A-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx c2415587-d4b6-4b6b-983f-8c3017ba2f09 ac126c0b-e17f-481c-8331-dc355f8ae993 g.chr4:164393861C>A ENST00000280605.3 - 1 1186 c.1026G>T c.(1024-1026)ctG>ctT p.L342L NM_032136.4 NP_115512.3 Q9H0I9 TKTL2_HUMAN transketolase-like 2 342 cytoplasm metal ion binding|transketolase activity breast(1)|endometrium(4)|kidney(2)|large_intestine(9)|lung(42)|ovary(3)|pancreas(1)|prostate(1)|skin(6)|upper_aerodigestive_tract(1) 70 all_hematologic(180;0.166) Prostate(90;0.0959)|all_neural(102;0.223) TGTCACCACTCAGaacaataa 0.428000 5 100 0.0215528 0.0227501 1 1 0 KRCC1 51315 broad.mit.edu 37 2 88327833 88327833 + Missense_Mutation SNP G G A rs148657110 TCGA-E1-A7YY-01A-11D-A34J-08 TCGA-E1-A7YY-10A-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx c2415587-d4b6-4b6b-983f-8c3017ba2f09 ac126c0b-e17f-481c-8331-dc355f8ae993 g.chr2:88327833G>A ENST00000347055.3 - 4 643 c.250C>T c.(250-252)Cgg>Tgg p.R84W NM_016618.1 NP_057702.1 Q9NPI7 KRCC1_HUMAN lysine-rich coiled-coil 1 84 cervix(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(3)|ovary(1) 7 TGAGGCAACCGATTTTCCACT 0.463000 3 69 0 0 1 0 0 UNC79 57578 broad.mit.edu 37 14 94160680 94160680 + Splice_Site SNP G G T TCGA-E1-A7YY-01A-11D-A34J-08 TCGA-E1-A7YY-10A-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx c2415587-d4b6-4b6b-983f-8c3017ba2f09 ac126c0b-e17f-481c-8331-dc355f8ae993 g.chr14:94160680G>T ENST00000553484.1 + 49 7807 c.e49-1 UNC79_ENST00000393151.2_Splice_Site|UNC79_ENST00000256339.4_Splice_Site|UNC79_ENST00000555664.1_Splice_Site Q9P2D8 UNC79_HUMAN unc-79 homolog (C. elegans) integral to membrane breast(3)|cervix(2)|endometrium(10)|kidney(7)|large_intestine(18)|liver(1)|lung(64)|ovary(1)|prostate(5)|skin(3)|urinary_tract(4) 118 TGTTGTTTCAGATGGTAGAAA 0.398000 10 47 0.000442599 0.00049467 1 1 0 IDH1 3417 broad.mit.edu 37 2 209113112 209113112 + Missense_Mutation SNP C C T rs121913500 TCGA-E1-A7YY-01A-11D-A34J-08 TCGA-E1-A7YY-10A-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx c2415587-d4b6-4b6b-983f-8c3017ba2f09 ac126c0b-e17f-481c-8331-dc355f8ae993 g.chr2:209113112C>T ENST00000415913.1 - 4 776 c.395G>A c.(394-396)cGt>cAt p.R132H IDH1_ENST00000446179.1_Missense_Mutation_p.R132H|IDH1_ENST00000345146.2_Missense_Mutation_p.R132H O75874 IDHC_HUMAN isocitrate dehydrogenase 1 (NADP+), soluble 132 R -> C (in colorectal cancer and glioma samples; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha- ketoglutarate but instead alpha- ketoglutarate is converted to R(-)-2- hydroxyglutarate).|R -> G (in a glioma sample; glioblastoma multiforme; somatic mutation).|R -> H (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate).|R -> L (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate).|R -> S (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate). 2-oxoglutarate metabolic process|cellular lipid metabolic process|glyoxylate cycle|isocitrate metabolic process|NADPH regeneration|tricarboxylic acid cycle cytosol|peroxisomal matrix isocitrate dehydrogenase (NADP+) activity|magnesium ion binding|NAD binding|protein homodimerization activity p.R132H(2774)|p.R132L(59)|p.R132V(1)|p.G131_R132>VL(1) NS(1)|autonomic_ganglia(2)|biliary_tract(24)|bone(237)|central_nervous_system(3764)|endometrium(3)|haematopoietic_and_lymphoid_tissue(794)|kidney(2)|large_intestine(7)|lung(7)|prostate(6)|skin(5)|soft_tissue(12)|thyroid(22)|urinary_tract(1) 4887 Epithelial(149;0.0322)|LUSC - Lung squamous cell carcinoma(261;0.0711)|Lung(261;0.136) ATAAGCATGACGACCTATGAT 0.393000 Mis gliobastoma 10 64 0 0 1 0 0 CHRNA1 1134 broad.mit.edu 37 2 175618969 175618969 + Missense_Mutation SNP C C T TCGA-E1-A7YY-01A-11D-A34J-08 TCGA-E1-A7YY-10A-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx c2415587-d4b6-4b6b-983f-8c3017ba2f09 ac126c0b-e17f-481c-8331-dc355f8ae993 g.chr2:175618969C>T ENST00000348749.5 - 5 595 c.518G>A c.(517-519)gGc>gAc p.G173D CHRNA1_ENST00000409323.1_Missense_Mutation_p.G173D|CHRNA1_ENST00000409219.1_Missense_Mutation_p.G173D|AC018890.6_ENST00000442996.1_RNA|CHRNA1_ENST00000409542.1_Missense_Mutation_p.G91D|CHRNA1_ENST00000261007.5_Missense_Mutation_p.G198D NM_000079.3 NP_000070.1 P02708 ACHA_HUMAN cholinergic receptor, nicotinic, alpha 1 (muscle) 198 muscle cell homeostasis|neuromuscular junction development|neuromuscular process|neuromuscular synaptic transmission|neuron homeostasis|regulation of action potential in neuron|skeletal muscle contraction|skeletal muscle tissue growth cell junction|cell surface|neuromuscular junction|nicotinic acetylcholine-gated receptor-channel complex|postsynaptic membrane acetylcholine receptor activity|nicotinic acetylcholine-activated cation-selective channel activity breast(3)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(5)|lung(15)|ovary(3)|prostate(3)|skin(4) 37 CACGACAGAGCCGTCGTAGGT 0.502000 3 49 0 0 1 0 0 KRTAP4-11 653240 broad.mit.edu 37 17 39274415 39274415 + Silent SNP C C T rs425487 by1000genomes TCGA-E1-A7YY-01A-11D-A34J-08 TCGA-E1-A7YY-10A-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx c2415587-d4b6-4b6b-983f-8c3017ba2f09 ac126c0b-e17f-481c-8331-dc355f8ae993 g.chr17:39274415C>T ENST00000391413.2 - 1 191 c.153G>A c.(151-153)agG>agA p.R51R NM_033059.3 NP_149048.2 Q9BYQ6 KR411_HUMAN keratin associated protein 4-11 51 27 X 5 AA repeats of C-C-[GIKRQVHEL]- [SPTR]-[STVQRMC]. Missing (in allele KAP4.14). keratin filament p.R51R(6) endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|lung(8)|prostate(5)|skin(1) 33 Breast(137;0.000496) STAD - Stomach adenocarcinoma(17;0.000371) AGCACTGGGGCCTGCAGCAGC 0.667000 4 44 0 0 1 0 0 REG3G 130120 broad.mit.edu 37 2 79255361 79255361 + Missense_Mutation SNP T T A TCGA-E1-A7YY-01A-11D-A34J-08 TCGA-E1-A7YY-10A-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx c2415587-d4b6-4b6b-983f-8c3017ba2f09 ac126c0b-e17f-481c-8331-dc355f8ae993 g.chr2:79255361T>A ENST00000272324.5 + 6 671 c.487T>A c.(487-489)Tgt>Agt p.C163S REG3G_ENST00000409471.1_Missense_Mutation_p.C117S|REG3G_ENST00000393897.2_Missense_Mutation_p.C163S NM_001008387.2 NP_001008388.1 Q6UW15 REG3G_HUMAN regenerating islet-derived 3 gamma 163 C-type lectin. acute-phase response extracellular region sugar binding NS(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(27)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 38 AGATTATAACTGTGATGCAAA 0.488000 3 52 0 0 1 0 0 PLCG2 5336 broad.mit.edu 37 16 81953130 81953130 + Missense_Mutation SNP G G A TCGA-E1-A7YY-01A-11D-A34J-08 TCGA-E1-A7YY-10A-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx c2415587-d4b6-4b6b-983f-8c3017ba2f09 ac126c0b-e17f-481c-8331-dc355f8ae993 g.chr16:81953130G>A ENST00000359376.3 + 20 2310 c.2096G>A c.(2095-2097)gGc>gAc p.G699D NM_002661.3 NP_002652.2 P16885 PLCG2_HUMAN phospholipase C, gamma 2 (phosphatidylinositol-specific) 699 SH2 2. intracellular signal transduction|phospholipid catabolic process|platelet activation plasma membrane phosphatidylinositol phospholipase C activity|protein binding|signal transducer activity NS(1)|breast(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(18)|lung(21)|ovary(1)|prostate(2)|skin(2)|urinary_tract(1) 58 AACCGGGACGGCCGGCACTTT 0.532000 7 76 0 0 1 0 0 HOXD1 3231 broad.mit.edu 37 2 177054653 177054653 + Missense_Mutation SNP C C T TCGA-E1-A7YY-01A-11D-A34J-08 TCGA-E1-A7YY-10A-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx c2415587-d4b6-4b6b-983f-8c3017ba2f09 ac126c0b-e17f-481c-8331-dc355f8ae993 g.chr2:177054653C>T ENST00000331462.4 + 2 993 c.770C>T c.(769-771)gCc>gTc p.A257V NM_024501.1 NP_078777.1 Q9GZZ0 HXD1_HUMAN homeobox D1 257 nucleus sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity kidney(1)|large_intestine(3)|lung(5)|upper_aerodigestive_tract(1) 10 OV - Ovarian serous cystadenocarcinoma(117;0.00569)|Epithelial(96;0.0864)|all cancers(119;0.226) Colorectal(32;0.0226) TTAACTCGAGCCCGGCGCATC 0.502000 8 134 0 0 1 0 0 MAGI1 9223 broad.mit.edu 37 3 65372850 65372851 + Frame_Shift_Del DEL TC TC - TCGA-E1-A7YY-01A-11D-A34J-08 TCGA-E1-A7YY-10A-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx c2415587-d4b6-4b6b-983f-8c3017ba2f09 ac126c0b-e17f-481c-8331-dc355f8ae993 g.chr3:65372850_65372851delTC ENST00000330909.8 - 15 2466_2467 c.2467_2468delGA c.(2467-2469)afs p.E823fs MAGI1_ENST00000402939.2_Intron|MAGI1_ENST00000497477.2_Intron|MAGI1_ENST00000483466.1_Frame_Shift_Del_p.E823fs NM_015520.1 NP_056335.1 Q96QZ7 MAGI1_HUMAN membrane associated guanylate kinase, WW and PDZ domain containing 1 823 PDZ 4. cell adhesion|cell surface receptor linked signaling pathway|protein complex assembly tight junction ATP binding|protein C-terminus binding breast(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(11)|liver(1)|lung(21)|pancreas(1)|skin(5) 51 Lung NSC(201;0.0016) BRCA - Breast invasive adenocarcinoma(55;0.00138)|KIRC - Kidney renal clear cell carcinoma(15;0.0988)|Kidney(15;0.133) GGAATTGATTTCTCTCTCTCTC 0.401 8 42 --- --- --- --- SLC12A7 10723 broad.mit.edu 37 5 1078124 1078125 + Splice_Site INS - - GCAG TCGA-E1-A7YY-01A-11D-A34J-08 TCGA-E1-A7YY-10A-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx c2415587-d4b6-4b6b-983f-8c3017ba2f09 ac126c0b-e17f-481c-8331-dc355f8ae993 g.chr5:1078124_1078125insGCAG ENST00000264930.5 - 12 1498 c.e12-2 NM_006598.2 NP_006589.2 Q9Y666 S12A7_HUMAN solute carrier family 12 (potassium/chloride transporter), member 7 potassium ion transport|sodium ion transport integral to plasma membrane potassium:chloride symporter activity breast(1)|endometrium(3)|kidney(2)|large_intestine(3)|lung(14)|ovary(2)|prostate(1)|skin(4)|urinary_tract(2) 32 Lung NSC(6;2.47e-13)|all_lung(6;1.67e-12)|all_epithelial(6;5.44e-09) Epithelial(17;0.000497)|OV - Ovarian serous cystadenocarcinoma(19;0.00239)|all cancers(22;0.00241)|Lung(60;0.165) Potassium Chloride(DB00761) TCCCCGAACCTgcaggcaggcg 0.673 3 3 --- --- --- --- DNM1P47 0 broad.mit.edu 37 15 102299886 102299887 + RNA INS - - G TCGA-E1-A7YY-01A-11D-A34J-08 TCGA-E1-A7YY-10A-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx c2415587-d4b6-4b6b-983f-8c3017ba2f09 ac126c0b-e17f-481c-8331-dc355f8ae993 g.chr15:102299886_102299887insG ENST00000561463.1 + 0 7932_7933 AACCTGTACTCGCGTCGGAACC 0.589 4 5 --- --- --- --- PRR12 57479 broad.mit.edu 37 19 50100465 50100465 + Frame_Shift_Del DEL C C - TCGA-E1-A7YY-01A-11D-A34J-08 TCGA-E1-A7YY-10A-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx c2415587-d4b6-4b6b-983f-8c3017ba2f09 ac126c0b-e17f-481c-8331-dc355f8ae993 g.chr19:50100465delC ENST00000418929.2 + 4 2885 c.2873delC c.(2872-2874)gcfs p.A959fs NM_020719.1 NP_065770.1 Q9ULL5 PRR12_HUMAN proline rich 12 138 DNA binding NS(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(2)|pancreas(1)|prostate(2) 11 all_lung(116;2.45e-07)|Lung NSC(112;1.24e-06)|Ovarian(192;0.0728)|all_neural(266;0.0887) OV - Ovarian serous cystadenocarcinoma(262;0.00319)|GBM - Glioblastoma multiforme(134;0.0132) GGTGGAGGGGCCGCGGACGAC 0.672 2 4 --- --- --- --- WDR44 54521 broad.mit.edu 37 X 117582883 117582885 + In_Frame_Del DEL TTC TTC - TCGA-E1-A7YY-01A-11D-A34J-08 TCGA-E1-A7YY-10A-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx c2415587-d4b6-4b6b-983f-8c3017ba2f09 ac126c0b-e17f-481c-8331-dc355f8ae993 g.chrX:117582883_117582885delTTC ENST00000254029.3 + 20 3070_3072 c.2675_2677delTTC c.(2674-2679)gtt>g p.VL892del WDR44_ENST00000371822.5_In_Frame_Del_p.VL803del|WDR44_ENST00000371825.3_In_Frame_Del_p.VL884del NM_019045.4 NP_061918.3 Q5JSH3 WDR44_HUMAN WD repeat domain 44 892 cytosol|endosome membrane|Golgi apparatus|perinuclear region of cytoplasm breast(4)|endometrium(2)|kidney(1)|large_intestine(4)|lung(16)|ovary(1)|pancreas(1)|prostate(1)|stomach(2)|upper_aerodigestive_tract(1) 33 AACACAGAAGTTCTTCTCTCTGC 0.286 7 61 --- --- --- ---