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 CDKAL1 54901 broad.mit.edu 37 6 20955792 20955792 + Silent SNP G G A rs140861870 byFrequency TCGA-J8-A3YH-06A-11D-A23M-08 TCGA-J8-A3YH-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 46379ee5-7ed3-473f-8285-0bc3a61451bf 6ef8a7e6-54c5-451a-a3bb-f8d333cad5c6 g.chr6:20955792G>A ENST00000274695.4 + 10 1052 c.885G>A c.(883-885)ccG>ccA p.P295P CDKAL1_ENST00000378624.4_Silent_p.P225P|CDKAL1_ENST00000378610.1_Silent_p.P295P NM_017774.3 NP_060244.2 Q5VV42 CDKAL_HUMAN CDK5 regulatory subunit associated protein 1-like 1 295 RNA modification integral to membrane 4 iron, 4 sulfur cluster binding|metal ion binding|transferase activity breast(1)|endometrium(4)|kidney(2)|large_intestine(5)|lung(14)|ovary(2)|stomach(1) 29 all_epithelial(95;0.0708)|Breast(50;0.131)|Ovarian(93;0.227) OV - Ovarian serous cystadenocarcinoma(7;0.0241)|all cancers(50;0.123)|Epithelial(50;0.248) TGACAAATCCGCCCTATATTT 0.478000 7 127 0 0 1 0 0 MGA 23269 broad.mit.edu 37 15 42059342 42059342 + Missense_Mutation SNP T T G rs71472501 TCGA-J8-A3YH-06A-11D-A23M-08 TCGA-J8-A3YH-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 46379ee5-7ed3-473f-8285-0bc3a61451bf 6ef8a7e6-54c5-451a-a3bb-f8d333cad5c6 g.chr15:42059342T>G ENST00000219905.7 + 24 9243 c.9062T>G c.(9061-9063)gTt>gGt p.V3021G MGA_ENST00000570161.1_Missense_Mutation_p.V3021G|MGA_ENST00000389936.4_Missense_Mutation_p.V2982G|MGA_ENST00000566586.1_Missense_Mutation_p.V2812G|MGA_ENST00000545763.1_Missense_Mutation_p.V2812G NM_001164273.1 NP_001157745.1 Q8IWI9 MGAP_HUMAN MGA, MAX dimerization protein 2982 MLL1 complex DNA binding|sequence-specific DNA binding transcription factor activity NS(1)|breast(4)|central_nervous_system(3)|endometrium(16)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(18)|lung(33)|ovary(8)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2) 95 all_cancers(109;0.00356)|all_epithelial(112;0.0413)|all_lung(180;0.18)|Ovarian(310;0.238) OV - Ovarian serous cystadenocarcinoma(18;1.41e-18)|GBM - Glioblastoma multiforme(113;2.15e-06)|COAD - Colon adenocarcinoma(120;0.031)|Lung(196;0.0721)|BRCA - Breast invasive adenocarcinoma(123;0.0964)|Colorectal(105;0.0998)|LUSC - Lung squamous cell carcinoma(244;0.235) GCTGCCAAAGTTGGGTCAGTT 0.483000 8 121 0 0 1 0 0 TMEM216 51259 broad.mit.edu 37 11 61161357 61161357 + Splice_Site SNP T T G TCGA-J8-A3YH-06A-11D-A23M-08 TCGA-J8-A3YH-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 46379ee5-7ed3-473f-8285-0bc3a61451bf 6ef8a7e6-54c5-451a-a3bb-f8d333cad5c6 g.chr11:61161357T>G ENST00000515837.2 + 3 1083 c.136_splice c.e3-1 p.G46_splice TMEM216_ENST00000334888.5_Splice_Site_p.G46_splice|TMEM216_ENST00000398979.3_5'UTR Q9P0N5 TM216_HUMAN transmembrane protein 216 39 integral to membrane p.G46G(3) endometrium(1)|large_intestine(2)|lung(1)|prostate(2) 6 TATTGGCAGGTGTCCTGCTAC 0.438000 13 28 0 0 1 0 0 TVP23C 201158 broad.mit.edu 37 17 15441469 15441469 + Splice_Site SNP C C T rs139351610 by1000genomes TCGA-J8-A3YH-06A-11D-A23M-08 TCGA-J8-A3YH-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 46379ee5-7ed3-473f-8285-0bc3a61451bf 6ef8a7e6-54c5-451a-a3bb-f8d333cad5c6 g.chr17:15441469C>T ENST00000584811.1 - 7 1815 c.e7-2 TVP23C_ENST00000225576.3_Intron|TVP23C-CDRT4_ENST00000522212.2_Intron|TVP23C_ENST00000438826.3_Splice_Site|TVP23C_ENST00000428082.2_Splice_Site|TVP23C_ENST00000519970.1_Intron trans-golgi network vesicle protein 23 homolog C (S. cerevisiae) TCCAGTGTTCCGCAAAAGACA 0.393000 6 103 0 0 1 0 0 ZNF706 51123 broad.mit.edu 37 8 102213947 102213947 + Missense_Mutation SNP A A T TCGA-J8-A3YH-06A-11D-A23M-08 TCGA-J8-A3YH-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 46379ee5-7ed3-473f-8285-0bc3a61451bf 6ef8a7e6-54c5-451a-a3bb-f8d333cad5c6 g.chr8:102213947A>T ENST00000520347.1 - 2 2979 c.23T>A c.(22-24)aTt>aAt p.I8N ZNF706_ENST00000519882.1_Missense_Mutation_p.I8N|ZNF706_ENST00000518336.1_Missense_Mutation_p.I8N|ZNF706_ENST00000311212.4_Missense_Mutation_p.I8N|ZNF706_ENST00000521272.1_Missense_Mutation_p.I8N|ZNF706_ENST00000520984.1_Missense_Mutation_p.I8N|ZNF706_ENST00000519744.1_Missense_Mutation_p.I8N|ZNF706_ENST00000517844.1_Missense_Mutation_p.I8N Q9Y5V0 ZN706_HUMAN zinc finger protein 706 8 intracellular zinc ion binding large_intestine(1)|ovary(2) 3 all_cancers(14;3.3e-07)|all_epithelial(15;3.47e-09)|Lung NSC(17;3.44e-05)|all_lung(17;0.000117) Epithelial(11;8.57e-11)|all cancers(13;1.43e-08)|OV - Ovarian serous cystadenocarcinoma(57;1.43e-05) CTGAGACTGAATTTTCTGCTG 0.393000 7 42 0 0 1 0 0 ATF4P4 0 broad.mit.edu 37 11 113659993 113659993 + RNA SNP A A C rs906846 by1000genomes TCGA-J8-A3YH-06A-11D-A23M-08 TCGA-J8-A3YH-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 46379ee5-7ed3-473f-8285-0bc3a61451bf 6ef8a7e6-54c5-451a-a3bb-f8d333cad5c6 g.chr11:113659993A>C ENST00000393544.2 + 0 41 GGCAGCATGTAGGTTGCAGGG 0.657000 3 44 0 0 1 0 0 TMPRSS11F 389208 broad.mit.edu 37 4 68925071 68925071 + Silent SNP G G A TCGA-J8-A3YH-06A-11D-A23M-08 TCGA-J8-A3YH-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 46379ee5-7ed3-473f-8285-0bc3a61451bf 6ef8a7e6-54c5-451a-a3bb-f8d333cad5c6 g.chr4:68925071G>A ENST00000356291.2 - 9 1190 c.1131C>T c.(1129-1131)ttC>ttT p.F377F RP11-453E17.1_ENST00000500538.2_RNA NM_207407.2 NP_997290.2 Q6ZWK6 TM11F_HUMAN transmembrane protease, serine 11F 377 Peptidase S1. proteolysis extracellular region|integral to plasma membrane serine-type endopeptidase activity NS(1)|breast(1)|endometrium(2)|kidney(2)|large_intestine(7)|liver(1)|lung(18)|ovary(1)|pancreas(1)|prostate(1)|urinary_tract(4) 39 TTCCTTCCATGAATCCAGCAC 0.388000 6 50 0 0 1 0 0 RP11-798G7.5 0 broad.mit.edu 37 17 43585746 43585746 + RNA SNP C C T TCGA-J8-A3YH-06A-11D-A23M-08 TCGA-J8-A3YH-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 46379ee5-7ed3-473f-8285-0bc3a61451bf 6ef8a7e6-54c5-451a-a3bb-f8d333cad5c6 g.chr17:43585746C>T ENST00000253803.2 + 0 267 LRRC37A4P_ENST00000579913.1_RNA TAAGCCAGAGCGGCCGTCTGA 0.438000 4 39 0 0 1 0 0 PLXNA1 5361 broad.mit.edu 37 3 126707544 126707544 + Silent SNP T T G TCGA-J8-A3YH-06A-11D-A23M-08 TCGA-J8-A3YH-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 46379ee5-7ed3-473f-8285-0bc3a61451bf 6ef8a7e6-54c5-451a-a3bb-f8d333cad5c6 g.chr3:126707544T>G ENST00000393409.2 + 1 108 c.108T>G c.(106-108)ggT>ggG p.G36G PLXNA1_ENST00000251772.4_Silent_p.G13G NM_032242.3 NP_115618.3 Q9UIW2 PLXA1_HUMAN plexin A1 36 Sema. axon guidance integral to membrane|intracellular|plasma membrane semaphorin receptor activity p.G13G(4) breast(3)|central_nervous_system(5)|endometrium(10)|kidney(5)|large_intestine(4)|lung(32)|ovary(2)|pancreas(1)|prostate(2)|skin(3) 67 GBM - Glioblastoma multiforme(114;0.155) CAGGCGGGGGTTCACAGCCCC 0.682000 6 26 0 0 1 0 0 TRAJ46 0 broad.mit.edu 37 14 22962402 22962402 + RNA SNP C C T TCGA-J8-A3YH-06A-11D-A23M-08 TCGA-J8-A3YH-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 46379ee5-7ed3-473f-8285-0bc3a61451bf 6ef8a7e6-54c5-451a-a3bb-f8d333cad5c6 g.chr14:22962402C>T ENST00000390491.1 + 0 14 AGAAAAGCAGCGGAGACAAGC 0.473000 3 32 0 0 1 0 0 BRAF 673 broad.mit.edu 37 7 140453136 140453136 + Missense_Mutation SNP A A T rs121913377 TCGA-J8-A3YH-06A-11D-A23M-08 TCGA-J8-A3YH-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 46379ee5-7ed3-473f-8285-0bc3a61451bf 6ef8a7e6-54c5-451a-a3bb-f8d333cad5c6 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 28 45 0 0 1 0 0 MYPOP 339344 broad.mit.edu 37 19 46393971 46393971 + Silent SNP T T G TCGA-J8-A3YH-06A-11D-A23M-08 TCGA-J8-A3YH-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 46379ee5-7ed3-473f-8285-0bc3a61451bf 6ef8a7e6-54c5-451a-a3bb-f8d333cad5c6 g.chr19:46393971T>G ENST00000322217.5 - 3 1196 c.1110A>C c.(1108-1110)ccA>ccC p.P370P NM_001012643.2 NP_001012661.1 Q86VE0 MYPOP_HUMAN Myb-related transcription factor, partner of profilin 370 Pro-rich. nucleus DNA binding p.A371fs*>30(1) large_intestine(2)|lung(1)|skin(1) 4 GGAGCGGGGCTGGGGGGGGCC 0.657000 4 17 0 0 1 0 0 DOCK8 81704 broad.mit.edu 37 9 414953 414953 + Splice_Site SNP T T A TCGA-J8-A3YH-06A-11D-A23M-08 TCGA-J8-A3YH-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 46379ee5-7ed3-473f-8285-0bc3a61451bf 6ef8a7e6-54c5-451a-a3bb-f8d333cad5c6 g.chr9:414953T>A ENST00000432829.2 + 29 3812 c.e29+2 DOCK8_ENST00000453981.1_Splice_Site|DOCK8_ENST00000469391.1_Splice_Site|DOCK8_ENST00000382329.1_Splice_Site NM_203447.3 NP_982272.2 Q8NF50 DOCK8_HUMAN dedicator of cytokinesis 8 blood coagulation cytosol GTP binding|GTPase binding|guanyl-nucleotide exchange factor activity breast(1)|central_nervous_system(5)|endometrium(2)|kidney(6)|large_intestine(13)|lung(22)|ovary(3)|prostate(3)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(6) 65 all_cancers(5;2.13e-17)|all_epithelial(5;2.15e-12)|all_lung(10;6.69e-11)|Lung NSC(10;1.08e-10)|Acute lymphoblastic leukemia(5;0.000242)|all_hematologic(5;0.00317)|Breast(48;0.0151)|Prostate(43;0.128) all cancers(5;9.3e-07)|GBM - Glioblastoma multiforme(5;2.41e-06)|Epithelial(6;0.00557)|Lung(218;0.00942) ACTTTACAGGTAATGGCCCTT 0.478000 36 91 0 0 1 0 0 ALG1L2 0 broad.mit.edu 37 3 129814807 129814807 + RNA DEL G G - rs71158106 TCGA-J8-A3YH-06A-11D-A23M-08 TCGA-J8-A3YH-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 46379ee5-7ed3-473f-8285-0bc3a61451bf 6ef8a7e6-54c5-451a-a3bb-f8d333cad5c6 g.chr3:129814807delG ENST00000507643.1 + 0 456 C9J202 AG1L2_HUMAN biosynthetic process transferase activity, transferring glycosyl groups CACTCCCCTCGGGGGGTGTTG 0.607 4 2 --- --- --- --- KMT2A 4297 broad.mit.edu 37 11 118352795 118352795 + Frame_Shift_Del DEL C C - TCGA-J8-A3YH-06A-11D-A23M-08 TCGA-J8-A3YH-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 46379ee5-7ed3-473f-8285-0bc3a61451bf 6ef8a7e6-54c5-451a-a3bb-f8d333cad5c6 g.chr11:118352795delC ENST00000534358.1 + 7 4023 c.4000delC c.(4000-4002)cafs p.P1335fs KMT2A_ENST00000420751.2_3'UTR|KMT2A_ENST00000389506.5_Frame_Shift_Del_p.P1335fs|KMT2A_ENST00000354520.4_Frame_Shift_Del_p.P1335fs NM_001197104.1|NM_005933.3 NP_001184033.1|NP_005924.2 lysine (K)-specific methyltransferase 2A GCAGCCTCCACCACCAGAATC 0.493 17 54 --- --- --- --- CLIP1 6249 broad.mit.edu 37 12 122812690 122812691 + Frame_Shift_Ins INS - - T TCGA-J8-A3YH-06A-11D-A23M-08 TCGA-J8-A3YH-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 46379ee5-7ed3-473f-8285-0bc3a61451bf 6ef8a7e6-54c5-451a-a3bb-f8d333cad5c6 g.chr12:122812690_122812691insT ENST00000358808.2 - 16 3173_3174 c.3019_3020insA c.(3019-3021)ccafs p.P1007fs CLIP1_ENST00000537178.1_Frame_Shift_Ins_p.P972fs|CLIP1_ENST00000545889.1_Frame_Shift_Ins_p.P593fs|CLIP1_ENST00000540338.1_Frame_Shift_Ins_p.P1018fs|CLIP1_ENST00000361654.4_Frame_Shift_Ins_p.P896fs|CLIP1_ENST00000302528.7_Frame_Shift_Ins_p.P1007fs NM_001247997.1|NM_002956.2 NP_001234926.1|NP_002947.1 P30622 CLIP1_HUMAN CAP-GLY domain containing linker protein 1 1018 mitotic prometaphase|positive regulation of microtubule polymerization centrosome|cytosol|endosome|intermediate filament|kinetochore nucleic acid binding|protein homodimerization activity|zinc ion binding NS(1)|breast(5)|endometrium(4)|kidney(5)|large_intestine(16)|liver(1)|lung(21)|ovary(2)|prostate(3)|upper_aerodigestive_tract(1)|urinary_tract(1) 60 all_neural(191;0.0837)|Medulloblastoma(191;0.163) OV - Ovarian serous cystadenocarcinoma(86;1.81e-05)|Epithelial(86;6.85e-05)|BRCA - Breast invasive adenocarcinoma(302;0.226) CTGGTTGTGGCTTGTTTCCATT 0.505 10 258 --- --- --- --- RP11-394A14.2 0 broad.mit.edu 37 13 64407210 64407211 + RNA INS - - TACTGTCAG TCGA-J8-A3YH-06A-11D-A23M-08 TCGA-J8-A3YH-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 46379ee5-7ed3-473f-8285-0bc3a61451bf 6ef8a7e6-54c5-451a-a3bb-f8d333cad5c6 g.chr13:64407210_64407211insTACTGTCAG ENST00000607822.1 - 0 2159 AGACCTTTATATAATTGCCAAA 0.366 10 197 --- --- --- --- ZFHX3 463 broad.mit.edu 37 16 72831847 72831866 + Frame_Shift_Del DEL TTGAAGGGCTCTCTTTAACT TTGAAGGGCTCTCTTTAACT - TCGA-J8-A3YH-06A-11D-A23M-08 TCGA-J8-A3YH-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 46379ee5-7ed3-473f-8285-0bc3a61451bf 6ef8a7e6-54c5-451a-a3bb-f8d333cad5c6 g.chr16:72831847_72831866delTTGAAGGGCTCTCTTTAACT ENST00000268489.5 - 9 5387_5406 c.4715_4734delAGTTAAAGAGAGCCCTTCAA c.(4714-4734)afs p.KLKRALQ1572fs ZFHX3_ENST00000397992.5_Frame_Shift_Del_p.KLKRALQ658fs NM_006885.3 NP_008816.3 Q15911 ZFHX3_HUMAN zinc finger homeobox 3 1572 muscle organ development|negative regulation of myoblast differentiation|negative regulation of transcription from RNA polymerase II promoter|negative regulation of transcription, DNA-dependent|positive regulation of myoblast differentiation transcription factor complex enzyme binding|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|transcription regulatory region DNA binding|zinc ion binding NS(3)|breast(7)|cervix(2)|endometrium(18)|haematopoietic_and_lymphoid_tissue(5)|kidney(8)|large_intestine(22)|liver(1)|lung(46)|ovary(5)|pancreas(1)|prostate(15)|skin(6)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(11) 153 Ovarian(137;0.13) TTGCTGATTCTTGAAGGGCTCTCTTTAACTTATGCAGGTG 0.473 11 93 --- --- --- --- RP11-252A24.2 0 broad.mit.edu 37 16 74372914 74372914 + RNA DEL G G - rs67181940 TCGA-J8-A3YH-06A-11D-A23M-08 TCGA-J8-A3YH-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 46379ee5-7ed3-473f-8285-0bc3a61451bf 6ef8a7e6-54c5-451a-a3bb-f8d333cad5c6 g.chr16:74372914delG ENST00000429810.2 - 0 1404 AACGTAGtttgtttttttttt 0.433 4 8 --- --- --- --- CECR7 0 broad.mit.edu 37 22 17528433 17528434 + RNA INS - - TT TCGA-J8-A3YH-06A-11D-A23M-08 TCGA-J8-A3YH-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 46379ee5-7ed3-473f-8285-0bc3a61451bf 6ef8a7e6-54c5-451a-a3bb-f8d333cad5c6 g.chr22:17528433_17528434insTT ENST00000441006.1 + 0 1006 NR_015352.1 ACAGTAGTGGCTTTTTTTTCTG 0.446 3 5 --- --- --- ---