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 SMCHD1 23347 broad.mit.edu 37 18 2728543 2728543 + Silent SNP A A G TCGA-L6-A4ET-01A-11D-A257-08 TCGA-L6-A4ET-10A-01D-A25A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 546b97b0-ab82-42a1-bbd2-241523278ec3 ea509942-fcac-486f-ac3d-37457bab29db g.chr18:2728543A>G ENST00000320876.6 + 23 3200 c.2862A>G c.(2860-2862)ttA>ttG p.L954L RP11-703M24.5_ENST00000583546.1_RNA|SMCHD1_ENST00000261598.8_Silent_p.L954L NM_015295.2 NP_056110.2 A6NHR9 SMHD1_HUMAN structural maintenance of chromosomes flexible hinge domain containing 1 954 chromosome organization ATP binding NS(3)|breast(3)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(16)|lung(15)|pancreas(1) 45 TGGAAGTTTTAGATGAATCAG 0.358000 21 27 0 0 1 0 0 ZFYVE20 64145 broad.mit.edu 37 3 15124046 15124046 + Missense_Mutation SNP A A T TCGA-L6-A4ET-01A-11D-A257-08 TCGA-L6-A4ET-10A-01D-A25A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 546b97b0-ab82-42a1-bbd2-241523278ec3 ea509942-fcac-486f-ac3d-37457bab29db g.chr3:15124046A>T ENST00000253699.3 - 9 1281 c.668T>A c.(667-669)gTc>gAc p.V223D ZFYVE20_ENST00000476527.2_Missense_Mutation_p.V223D|ZFYVE20_ENST00000435849.3_Intron|ZFYVE20_ENST00000449964.2_Intron NM_022340.2 NP_071735.2 Q9H1K0 RBNS5_HUMAN zinc finger, FYVE domain containing 20 223 Necessary for the correct targeting to endosomes.|Ser-rich. blood coagulation|endosome transport|protein transport early endosome membrane|plasma membrane protein binding|zinc ion binding NS(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(10)|skin(3)|stomach(1)|urinary_tract(2) 26 GGAGCCATGGACACTGTTGGG 0.592000 5 57 0 0 1 0 0 PDSS1 23590 broad.mit.edu 37 10 27035361 27035361 + Missense_Mutation SNP C C A TCGA-L6-A4ET-01A-11D-A257-08 TCGA-L6-A4ET-10A-01D-A25A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 546b97b0-ab82-42a1-bbd2-241523278ec3 ea509942-fcac-486f-ac3d-37457bab29db g.chr10:27035361C>A ENST00000376215.5 + 12 1260 c.1207C>A c.(1207-1209)Ctc>Atc p.L403I PDSS1_ENST00000470978.1_3'UTR|PDSS1_ENST00000376203.5_3'UTR NM_014317.3 NP_055132.2 Q5T2R2 DPS1_HUMAN prenyl (decaprenyl) diphosphate synthase, subunit 1 403 isoprenoid biosynthetic process|ubiquinone biosynthetic process mitochondrion metal ion binding|protein heterodimerization activity autonomic_ganglia(1)|endometrium(1)|kidney(7)|large_intestine(6)|lung(5)|prostate(1) 21 AAGAGATGCCCTCATTCAGCT 0.433000 20 40 7.45023e-12 8.1076e-12 1 1 0 RP11-419C5.2 0 broad.mit.edu 37 16 70016573 70016573 + Missense_Mutation SNP G G A rs3748384 by1000genomes TCGA-L6-A4ET-01A-11D-A257-08 TCGA-L6-A4ET-10A-01D-A25A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 546b97b0-ab82-42a1-bbd2-241523278ec3 ea509942-fcac-486f-ac3d-37457bab29db g.chr16:70016573G>A ENST00000325845.7 - 22 2361 c.292C>T c.(292-294)Cgt>Tgt p.R98C RP11-419C5.2_ENST00000532298.1_Missense_Mutation_p.R113C|PDXDC2P_ENST00000531894.1_RNA|RP11-419C5.2_ENST00000525562.1_5'UTR breast(2)|endometrium(2)|kidney(6)|lung(2)|prostate(1) 13 TCCTGTCTACGGCGGTTGGAC 0.483000 5 39 0 0 1 0 0 OSCP1 127700 broad.mit.edu 37 1 36898067 36898067 + Missense_Mutation SNP T T C rs34409118 byFrequency TCGA-L6-A4ET-01A-11D-A257-08 TCGA-L6-A4ET-10A-01D-A25A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 546b97b0-ab82-42a1-bbd2-241523278ec3 ea509942-fcac-486f-ac3d-37457bab29db g.chr1:36898067T>C ENST00000356637.5 - 4 484 c.421A>G c.(421-423)Acc>Gcc p.T141A OSCP1_ENST00000315643.9_Missense_Mutation_p.T141A|OSCP1_ENST00000433045.2_Missense_Mutation_p.T86A|OSCP1_ENST00000235532.5_Missense_Mutation_p.T131A|OSCP1_ENST00000354267.3_Missense_Mutation_p.T131A Q8WVF1 OSCP1_HUMAN organic solute carrier partner 1 141 T -> A (in dbSNP:rs34409118). transport basal plasma membrane p.T141A(2) NS(1)|breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(5)|ovary(3)|pancreas(1)|prostate(1)|skin(1)|stomach(2)|urinary_tract(1) 22 TGCAGGATGGTTGGGGAGTCT 0.502000 6 88 0 0 1 0 0 PAQR4 124222 broad.mit.edu 37 16 3019765 3019765 + Silent SNP G G A TCGA-L6-A4ET-01A-11D-A257-08 TCGA-L6-A4ET-10A-01D-A25A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 546b97b0-ab82-42a1-bbd2-241523278ec3 ea509942-fcac-486f-ac3d-37457bab29db g.chr16:3019765G>A ENST00000318782.8 + 1 520 c.90G>A c.(88-90)cgG>cgA p.R30R PKMYT1_ENST00000431515.2_Intron|PAQR4_ENST00000293978.8_Silent_p.R30R|PAQR4_ENST00000572687.1_Silent_p.R30R|PKMYT1_ENST00000571102.1_Intron|PAQR4_ENST00000576565.1_Intron NM_152341.3 NP_689554.2 Q8N4S7 PAQR4_HUMAN progestin and adipoQ receptor family member IV 30 integral to membrane receptor activity kidney(1)|large_intestine(1)|lung(3)|ovary(1)|prostate(1)|urinary_tract(1) 8 CCGGGTACCGGCCCGCCAGCA 0.692000 10 22 0 0 1 0 0 KYNU 8942 broad.mit.edu 37 2 143790821 143790821 + Silent SNP T T G TCGA-L6-A4ET-01A-11D-A257-08 TCGA-L6-A4ET-10A-01D-A25A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 546b97b0-ab82-42a1-bbd2-241523278ec3 ea509942-fcac-486f-ac3d-37457bab29db g.chr2:143790821T>G ENST00000264170.4 + 12 1230 c.972T>G c.(970-972)ccT>ccG p.P324P KYNU_ENST00000409512.1_Silent_p.P324P NM_003937.2 NP_003928.1 Q16719 KYNU_HUMAN kynureninase 324 anthranilate metabolic process|NAD biosynthetic process|quinolinate biosynthetic process|response to interferon-gamma|response to vitamin B6 cytosol|mitochondrion|soluble fraction kynureninase activity|protein homodimerization activity large_intestine(10)|liver(1)|lung(18)|prostate(3)|skin(4) 36 BRCA - Breast invasive adenocarcinoma(221;0.072) L-Alanine(DB00160)|Pyridoxal Phosphate(DB00114) AGTTAATCCCTGGGGTCTGTG 0.378000 54 97 0 0 1 0 0 PCK2 5106 broad.mit.edu 37 14 24569430 24569430 + Silent SNP C C T TCGA-L6-A4ET-01A-11D-A257-08 TCGA-L6-A4ET-10A-01D-A25A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 546b97b0-ab82-42a1-bbd2-241523278ec3 ea509942-fcac-486f-ac3d-37457bab29db g.chr14:24569430C>T ENST00000396973.4 + 7 1489 c.1242C>T c.(1240-1242)tgC>tgT p.C414C PCK2_ENST00000216780.4_Intron|PCK2_ENST00000545054.2_Intron|PCK2_ENST00000559250.1_Intron|PCK2_ENST00000561286.1_Intron|PCK2_ENST00000558096.1_Intron|NRL_ENST00000561028.1_Intron NM_001018073.1 NP_001018083.1 Q16822 PCKGM_HUMAN phosphoenolpyruvate carboxykinase 2 (mitochondrial) 0 gluconeogenesis mitochondrial matrix GTP binding|metal ion binding|phosphoenolpyruvate carboxykinase (GTP) activity breast(2)|endometrium(2)|kidney(3)|large_intestine(3)|lung(5)|ovary(1)|prostate(1)|skin(1) 18 GBM - Glioblastoma multiforme(265;0.0184) CTGGTATGTGCGGTGGGGAAG 0.577000 5 44 0 0 1 0 0 KRT80 144501 broad.mit.edu 37 12 52567461 52567461 + Missense_Mutation SNP C C T TCGA-L6-A4ET-01A-11D-A257-08 TCGA-L6-A4ET-10A-01D-A25A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 546b97b0-ab82-42a1-bbd2-241523278ec3 ea509942-fcac-486f-ac3d-37457bab29db g.chr12:52567461C>T ENST00000313234.5 - 5 851 c.754G>A c.(754-756)Gtg>Atg p.V252M KRT80_ENST00000394815.2_Missense_Mutation_p.V252M NM_001081492.1 NP_001074961.1 Q6KB66 K2C80_HUMAN keratin 80 252 Coil 2.|Rod. keratin filament structural molecule activity endometrium(2)|large_intestine(2)|lung(1) 5 BRCA - Breast invasive adenocarcinoma(357;0.108) ACCTCCTCCACGATGCCGCTC 0.662000 5 73 0 0 1 0 0 ZNF814 730051 broad.mit.edu 37 19 58385546 58385546 + Missense_Mutation SNP G G T TCGA-L6-A4ET-01A-11D-A257-08 TCGA-L6-A4ET-10A-01D-A25A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 546b97b0-ab82-42a1-bbd2-241523278ec3 ea509942-fcac-486f-ac3d-37457bab29db g.chr19:58385546G>T ENST00000435989.2 - 3 1446 c.1212C>A c.(1210-1212)gaC>gaA p.D404E ZNF814_ENST00000595295.1_Intron|ZNF814_ENST00000597342.1_Intron|ZNF814_ENST00000600634.1_Intron|ZNF814_ENST00000597832.1_Intron|ZNF814_ENST00000596604.1_Intron NM_001144989.1 NP_001138461.1 B7Z6K7 ZN814_HUMAN zinc finger protein 814 404 regulation of transcription, DNA-dependent intracellular nucleic acid binding|zinc ion binding p.D404E(10) NS(1)|central_nervous_system(2)|endometrium(3)|kidney(9)|lung(2)|prostate(4)|skin(1)|urinary_tract(3) 25 AATGTTTTTTGTCAGTGTGAA 0.393000 4 8 0.00909568 0.00934834 1 1 0 MT-ND5 4540 broad.mit.edu 37 MT 12439 12439 + Missense_Mutation SNP T T C TCGA-L6-A4ET-01A-11D-A257-08 TCGA-L6-A4ET-10A-01D-A25A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 546b97b0-ab82-42a1-bbd2-241523278ec3 ea509942-fcac-486f-ac3d-37457bab29db g.chrM:12439T>C ENST00000361567.2 + 1 103 c.103T>C c.(103-105)Tat>Cat p.Y35H P03915 NU5M_HUMAN mitochondrially encoded NADH dehydrogenase 5 35 mitochondrial electron transport, NADH to ubiquinone|transport integral to membrane|mitochondrial respiratory chain complex I NADH dehydrogenase (ubiquinone) activity breast(4)|endometrium(29)|kidney(33)|pancreas(1)|prostate(7) 74 NADH(DB00157) CATACCCCCATTATGTAAAAT 0.418000 3 6 0 0 1 0 0 RGPD8 727851 broad.mit.edu 37 2 113127775 113127775 + Missense_Mutation SNP G G C TCGA-L6-A4ET-01A-11D-A257-08 TCGA-L6-A4ET-10A-01D-A25A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 546b97b0-ab82-42a1-bbd2-241523278ec3 ea509942-fcac-486f-ac3d-37457bab29db g.chr2:113127775G>C ENST00000302558.3 - 23 5469 c.5278C>G c.(5278-5280)Cct>Gct p.P1760A RGPD8_ENST00000409750.1_Missense_Mutation_p.P1620A NM_001164463.1 NP_001157935.1 RANBP2-like and GRIP domain containing 8 p.P1760A(12) endometrium(4)|kidney(1)|lung(1)|prostate(3)|urinary_tract(1) 10 GAACGGGAAGGATTTTCTTCC 0.308000 4 42 0 0 1 0 0 BRAF 673 broad.mit.edu 37 7 140453136 140453136 + Missense_Mutation SNP A A T rs121913377 TCGA-L6-A4ET-01A-11D-A257-08 TCGA-L6-A4ET-10A-01D-A25A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 546b97b0-ab82-42a1-bbd2-241523278ec3 ea509942-fcac-486f-ac3d-37457bab29db 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 26 32 0 0 1 0 0 ANGPTL7 10218 broad.mit.edu 37 1 11249916 11249916 + Missense_Mutation SNP C C T TCGA-L6-A4ET-01A-11D-A257-08 TCGA-L6-A4ET-10A-01D-A25A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 546b97b0-ab82-42a1-bbd2-241523278ec3 ea509942-fcac-486f-ac3d-37457bab29db g.chr1:11249916C>T ENST00000376819.3 + 1 519 c.280C>T c.(280-282)Cgg>Tgg p.R94W MTOR_ENST00000361445.4_Intron NM_021146.2 NP_066969.1 O43827 ANGL7_HUMAN angiopoietin-like 7 94 response to oxidative stress|signal transduction extracellular region receptor binding p.R94W(1) endometrium(2)|kidney(1)|large_intestine(1)|lung(3)|skin(2)|stomach(1) 10 Ovarian(185;0.249) Renal(390;0.000469)|Lung NSC(185;0.000818)|all_lung(284;0.00105)|Colorectal(325;0.0062)|Breast(348;0.0139)|Hepatocellular(190;0.0305)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0731) UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;1.39e-06)|COAD - Colon adenocarcinoma(227;0.000244)|BRCA - Breast invasive adenocarcinoma(304;0.000294)|Kidney(185;0.000728)|KIRC - Kidney renal clear cell carcinoma(229;0.00258)|STAD - Stomach adenocarcinoma(313;0.0072)|READ - Rectum adenocarcinoma(331;0.0487) CATGGAGTCGCGGCTCACAGA 0.557000 4 34 0 0 1 0 0 UBE4A 9354 broad.mit.edu 37 11 118240215 118240215 + Missense_Mutation SNP G G C TCGA-L6-A4ET-01A-11D-A257-08 TCGA-L6-A4ET-10A-01D-A25A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 546b97b0-ab82-42a1-bbd2-241523278ec3 ea509942-fcac-486f-ac3d-37457bab29db g.chr11:118240215G>C ENST00000252108.3 + 4 504 c.373G>C c.(373-375)Gat>Cat p.D125H UBE4A_ENST00000431736.2_Missense_Mutation_p.D125H NM_001204077.1|NM_004788.3 NP_001191006.1|NP_004779.2 Q14139 UBE4A_HUMAN ubiquitination factor E4A 125 ubiquitin-dependent protein catabolic process ubiquitin ligase complex protein binding autonomic_ganglia(1)|breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(17)|large_intestine(7)|liver(2)|lung(14)|ovary(3)|prostate(1)|upper_aerodigestive_tract(5)|urinary_tract(2) 56 all_hematologic(175;0.046) Medulloblastoma(222;0.0425)|Breast(348;0.181)|all_hematologic(192;0.196)|all_neural(223;0.234) BRCA - Breast invasive adenocarcinoma(274;3.28e-05) AGAGCTAGAAGATCAAGACTG 0.428000 5 42 0 0 1 0 0 STAG3L2 0 broad.mit.edu 37 7 74306378 74306378 + RNA DEL C C - TCGA-L6-A4ET-01A-11D-A257-08 TCGA-L6-A4ET-10A-01D-A25A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 546b97b0-ab82-42a1-bbd2-241523278ec3 ea509942-fcac-486f-ac3d-37457bab29db g.chr7:74306378delC ENST00000423186.1 - 0 296 P0CL84 ST3L2_HUMAN nucleus binding breast(1)|central_nervous_system(1)|large_intestine(1)|lung(1)|pancreas(1) 5 GGGCGGGGGGCCCCGCGCTCC 0.731 3 5 --- --- --- --- FOXE1 2304 broad.mit.edu 37 9 100616701 100616706 + In_Frame_Del DEL GCCGCC GCCGCC - rs11279082 TCGA-L6-A4ET-01A-11D-A257-08 TCGA-L6-A4ET-10A-01D-A25A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 546b97b0-ab82-42a1-bbd2-241523278ec3 ea509942-fcac-486f-ac3d-37457bab29db g.chr9:100616701_100616706delGCCGCC ENST00000375123.3 + 1 1166_1171 c.505_510delGCCGCC c.(505-510)del p.AA177del NM_004473.3 NP_004464.2 O00358 FOXE1_HUMAN forkhead box E1 (thyroid transcription factor 2) 177 Ala-rich.|Poly-Ala. cell migration|embryonic organ morphogenesis|hair follicle morphogenesis|hard palate development|lens morphogenesis in camera-type eye|negative regulation of transcription from RNA polymerase II promoter|pattern specification process|peripheral nervous system development|pharynx development|positive regulation of transcription from RNA polymerase II promoter|regulation of sequence-specific DNA binding transcription factor activity|soft palate development|thymus development|thyroid gland development|thyroid hormone generation transcription factor complex DNA bending activity|double-stranded DNA binding|promoter binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|specific RNA polymerase II transcription factor activity|specific transcriptional repressor activity|transcription activator activity|transcription factor binding central_nervous_system(1)|endometrium(1)|lung(2)|upper_aerodigestive_tract(1) 5 Acute lymphoblastic leukemia(62;0.158) Ggctgccgcagccgccgccgccgccg 0.767 4 8 --- --- --- ---