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 NOTCH4 4855 broad.mit.edu 37 6 32184732 32184732 + Silent SNP A A G TCGA-SR-A6N0-01A-11D-A35I-08 TCGA-SR-A6N0-10A-01D-A35G-08 Untested Somatic Phase_I WXS none Illumina GAIIx 031b30f4-2a2d-4cb5-a2b3-5c3bb6a32394 58d7aaf7-14d1-443c-8b7b-48a900d22a8a g.chr6:32184732A>G ENST00000375023.3 - 11 1989 c.1851T>C c.(1849-1851)tcT>tcC p.S617S NM_004557.3 NP_004548.3 Q99466 NOTC4_HUMAN notch 4 617 EGF-like 15; calcium-binding (Potential). cell fate determination|embryo development|hemopoiesis|mammary gland development|negative regulation of endothelial cell differentiation|Notch receptor processing|Notch signaling pathway|patterning of blood vessels|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent cell surface|cytosol|endoplasmic reticulum lumen|extracellular region|Golgi lumen|integral to plasma membrane|nucleoplasm calcium ion binding|protein heterodimerization activity|receptor activity NS(1)|autonomic_ganglia(1)|breast(4)|central_nervous_system(4)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(11)|lung(47)|ovary(5)|prostate(4)|skin(10)|upper_aerodigestive_tract(1)|urinary_tract(1) 100 CTGTGAAACCAGAGGGGCAGA 0.527000 12 39 0 0 1 0 0 AGO2 27161 broad.mit.edu 37 8 141551409 141551409 + Missense_Mutation SNP G G A TCGA-SR-A6N0-01A-11D-A35I-08 TCGA-SR-A6N0-10A-01D-A35G-08 Untested Somatic Phase_I WXS none Illumina GAIIx 031b30f4-2a2d-4cb5-a2b3-5c3bb6a32394 58d7aaf7-14d1-443c-8b7b-48a900d22a8a g.chr8:141551409G>A ENST00000220592.5 - 15 2000 c.1888C>T c.(1888-1890)Cgc>Tgc p.R630C AGO2_ENST00000519980.1_Missense_Mutation_p.R630C NM_012154.3 NP_036286.2 argonaute RISC catalytic component 2 TGCTGCACGCGCACGGTGGCG 0.622000 3 19 0 0 1 0 0 KLHL23 151230 broad.mit.edu 37 2 170606207 170606207 + Missense_Mutation SNP C C T TCGA-SR-A6N0-01A-11D-A35I-08 TCGA-SR-A6N0-10A-01D-A35G-08 Untested Somatic Phase_I WXS none Illumina GAIIx 031b30f4-2a2d-4cb5-a2b3-5c3bb6a32394 58d7aaf7-14d1-443c-8b7b-48a900d22a8a g.chr2:170606207C>T ENST00000392647.2 + 4 1886 c.1642C>T c.(1642-1644)Cgg>Tgg p.R548W KLHL23_ENST00000602521.1_Missense_Mutation_p.R55W|KLHL23_ENST00000272797.4_Missense_Mutation_p.R548W NM_144711.5 NP_653312.2 Q8NBE8 KLH23_HUMAN kelch-like family member 23 548 breast(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(6)|lung(4)|skin(1)|urinary_tract(1) 16 CAGTGCCATGCGGTCTCATGG 0.373000 4 100 0 0 1 0 0 OR6C76 390326 broad.mit.edu 37 12 55820078 55820078 + Missense_Mutation SNP G G A TCGA-SR-A6N0-01A-11D-A35I-08 TCGA-SR-A6N0-10A-01D-A35G-08 Untested Somatic Phase_I WXS none Illumina GAIIx 031b30f4-2a2d-4cb5-a2b3-5c3bb6a32394 58d7aaf7-14d1-443c-8b7b-48a900d22a8a g.chr12:55820078G>A ENST00000328314.3 + 1 41 c.41G>A c.(40-42)gGt>gAt p.G14D NM_001005183.1 NP_001005183.1 A6NM76 O6C76_HUMAN olfactory receptor, family 6, subfamily C, member 76 14 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity NS(1)|central_nervous_system(1)|large_intestine(3)|lung(4)|prostate(1)|skin(1)|soft_tissue(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 14 ATCCTTCTGGGTCTGACGGAT 0.373000 21 56 0 0 1 0 0 TRIO 7204 broad.mit.edu 37 5 14391061 14391061 + Missense_Mutation SNP A A T TCGA-SR-A6N0-01A-11D-A35I-08 TCGA-SR-A6N0-10A-01D-A35G-08 Untested Somatic Phase_I WXS none Illumina GAIIx 031b30f4-2a2d-4cb5-a2b3-5c3bb6a32394 58d7aaf7-14d1-443c-8b7b-48a900d22a8a g.chr5:14391061A>T ENST00000344204.4 + 27 4204 c.4180A>T c.(4180-4182)Act>Tct p.T1394S TRIO_ENST00000537187.1_Missense_Mutation_p.T1394S|TRIO_ENST00000509967.2_Missense_Mutation_p.T1345S NM_007118.2 NP_009049.2 O75962 TRIO_HUMAN trio Rho guanine nucleotide exchange factor 1394 DH 1. apoptosis|axon guidance|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction|transmembrane receptor protein tyrosine phosphatase signaling pathway cytosol ATP binding|protein serine/threonine kinase activity|Rho guanyl-nucleotide exchange factor activity NS(2)|breast(6)|central_nervous_system(4)|endometrium(16)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(21)|lung(34)|ovary(4)|prostate(2)|skin(11)|stomach(3)|upper_aerodigestive_tract(3)|urinary_tract(4) 118 Lung NSC(4;0.000742) GCCTGATTCTACTCAGCTGAT 0.343000 17 56 0 0 1 0 0 RP11-156P1.3 0 broad.mit.edu 37 17 45127107 45127107 + RNA SNP C C G rs147409399 by1000genomes TCGA-SR-A6N0-01A-11D-A35I-08 TCGA-SR-A6N0-10A-01D-A35G-08 Untested Somatic Phase_I WXS none Illumina GAIIx 031b30f4-2a2d-4cb5-a2b3-5c3bb6a32394 58d7aaf7-14d1-443c-8b7b-48a900d22a8a g.chr17:45127107C>G ENST00000575173.1 - 0 418 CCTTCGTTCACCCAAGAGCAT 0.592000 4 66 0 0 1 0 0 HNF1B 6928 broad.mit.edu 37 17 36099431 36099431 + Splice_Site SNP G G A TCGA-SR-A6N0-01A-11D-A35I-08 TCGA-SR-A6N0-10A-01D-A35G-08 Untested Somatic Phase_I WXS none Illumina GAIIx 031b30f4-2a2d-4cb5-a2b3-5c3bb6a32394 58d7aaf7-14d1-443c-8b7b-48a900d22a8a g.chr17:36099431G>A ENST00000225893.4 - 2 905 c.544_splice c.e2+1 p.Q182_splice HNF1B_ENST00000427275.2_Splice_Site_p.Q182_splice|HNF1B_ENST00000561193.1_Splice_Site_p.Q182_splice|HNF1B_ENST00000560016.1_Splice_Site_p.Q182_splice NM_000458.2|NM_001165923.1 NP_000449.1|NP_001159395.1 P35680 HNF1B_HUMAN HNF1 homeobox B 182 endocrine pancreas development|genitalia development|kidney development|positive regulation of transcription initiation from RNA polymerase II promoter|positive regulation of transcription, DNA-dependent|pronephric nephron tubule development|regulation of pronephros size nucleus DNA binding|protein homodimerization activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity breast(2)|central_nervous_system(3)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(6)|kidney(3)|large_intestine(2)|liver(1)|lung(3)|ovary(3)|prostate(1)|skin(2) 28 Breast(25;0.00765)|Ovarian(249;0.15) STAD - Stomach adenocarcinoma(1;0.0142) AAACACTTACGTCGGAGGATC 0.547000 5 64 0 0 1 0 0 ZNF528 84436 broad.mit.edu 37 19 52919463 52919463 + Missense_Mutation SNP C C G TCGA-SR-A6N0-01A-11D-A35I-08 TCGA-SR-A6N0-10A-01D-A35G-08 Untested Somatic Phase_I WXS none Illumina GAIIx 031b30f4-2a2d-4cb5-a2b3-5c3bb6a32394 58d7aaf7-14d1-443c-8b7b-48a900d22a8a g.chr19:52919463C>G ENST00000360465.3 + 7 1784 c.1358C>G c.(1357-1359)aCt>aGt p.T453S ZNF528_ENST00000391788.2_3'UTR NM_032423.2 NP_115799.2 Q3MIS6 ZN528_HUMAN zinc finger protein 528 453 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding breast(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(13)|lung(6)|ovary(1)|prostate(3)|skin(5)|stomach(1)|upper_aerodigestive_tract(2) 39 GBM - Glioblastoma multiforme(134;0.00249)|OV - Ovarian serous cystadenocarcinoma(262;0.00817) TCAGACCTTACTGCCCATTTT 0.373000 5 98 0 0 1 0 0 CYP2D7 1564 broad.mit.edu 37 22 42538870 42538870 + RNA SNP A A C rs2982057 by1000genomes TCGA-SR-A6N0-01A-11D-A35I-08 TCGA-SR-A6N0-10A-01D-A35G-08 Untested Somatic Phase_I WXS none Illumina GAIIx 031b30f4-2a2d-4cb5-a2b3-5c3bb6a32394 58d7aaf7-14d1-443c-8b7b-48a900d22a8a g.chr22:42538870A>C ENST00000358097.4 - 0 449 CYP2D7P1_ENST00000433992.1_RNA|CYP2D7P1_ENST00000424775.1_RNA endometrium(1) 1 CCATAGCGCGACAGGAACACC 0.687000 3 25 0 0 1 0 0 FAM47C 442444 broad.mit.edu 37 X 37028425 37028425 + Missense_Mutation SNP A A G rs145580328 byFrequency TCGA-SR-A6N0-01A-11D-A35I-08 TCGA-SR-A6N0-10A-01D-A35G-08 Untested Somatic Phase_I WXS none Illumina GAIIx 031b30f4-2a2d-4cb5-a2b3-5c3bb6a32394 58d7aaf7-14d1-443c-8b7b-48a900d22a8a g.chrX:37028425A>G ENST00000358047.3 + 1 1994 c.1942A>G c.(1942-1944)Aat>Gat p.N648D NM_001013736.2 NP_001013758.1 Q5HY64 FA47C_HUMAN family with sequence similarity 47, member C 648 p.N648D(7) breast(4)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(15)|lung(63)|ovary(6)|pancreas(1)|prostate(6)|skin(8)|upper_aerodigestive_tract(4)|urinary_tract(1) 120 GGAGCCTCCCAATACTGGAGT 0.642000 5 125 0 0 1 0 0 LRRC37A6P 387646 broad.mit.edu 37 10 27535352 27535352 + RNA SNP G G A TCGA-SR-A6N0-01A-11D-A35I-08 TCGA-SR-A6N0-10A-01D-A35G-08 Untested Somatic Phase_I WXS none Illumina GAIIx 031b30f4-2a2d-4cb5-a2b3-5c3bb6a32394 58d7aaf7-14d1-443c-8b7b-48a900d22a8a g.chr10:27535352G>A ENST00000574842.1 + 0 255 AATCAAAGTCGTTAGTATTTC 0.383000 18 62 0 0 1 0 0 PCSK4 54760 broad.mit.edu 37 19 1490185 1490185 + Missense_Mutation SNP C C T TCGA-SR-A6N0-01A-11D-A35I-08 TCGA-SR-A6N0-10A-01D-A35G-08 Untested Somatic Phase_I WXS none Illumina GAIIx 031b30f4-2a2d-4cb5-a2b3-5c3bb6a32394 58d7aaf7-14d1-443c-8b7b-48a900d22a8a g.chr19:1490185C>T ENST00000300954.5 - 1 222 c.161G>A c.(160-162)cGc>cAc p.R54H PCSK4_ENST00000587784.1_Intron NM_017573.3 NP_060043.2 Q6UW60 PCSK4_HUMAN proprotein convertase subtilisin/kexin type 4 54 proteolysis integral to membrane serine-type endopeptidase activity cervix(2)|endometrium(2)|kidney(1)|lung(6)|ovary(2)|skin(1)|upper_aerodigestive_tract(1) 15 Acute lymphoblastic leukemia(61;3.02e-13)|all_hematologic(61;4.32e-09)|Hepatocellular(1079;0.137) UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18) GCCGAATTTGCGTGCCAGGCG 0.687000 4 50 0 0 1 0 0 EP400 57634 broad.mit.edu 37 12 132547093 132547093 + Silent SNP A A G rs60608267 by1000genomes TCGA-SR-A6N0-01A-11D-A35I-08 TCGA-SR-A6N0-10A-01D-A35G-08 Untested Somatic Phase_I WXS none Illumina GAIIx 031b30f4-2a2d-4cb5-a2b3-5c3bb6a32394 58d7aaf7-14d1-443c-8b7b-48a900d22a8a g.chr12:132547093A>G ENST00000333577.4 + 48 8398 c.8289A>G c.(8287-8289)caA>caG p.Q2763Q EP400_ENST00000332482.4_Silent_p.Q2690Q|EP400_ENST00000330386.6_Silent_p.Q2646Q|EP400_ENST00000389562.2_Silent_p.Q2726Q|EP400_ENST00000389561.2_Silent_p.Q2727Q Q96L91 EP400_HUMAN E1A binding protein p400 2763 Interaction with ZNF42 (By similarity).|Poly-Gln. histone H2A acetylation|histone H4 acetylation|regulation of transcription, DNA-dependent NuA4 histone acetyltransferase complex|nuclear speck ATP binding|DNA binding|helicase activity p.Q2726Q(9) NS(1)|breast(6)|central_nervous_system(10)|cervix(1)|endometrium(21)|kidney(13)|large_intestine(25)|lung(56)|ovary(5)|prostate(8)|skin(6)|stomach(4)|upper_aerodigestive_tract(2)|urinary_tract(3) 161 all_neural(191;0.0982)|Medulloblastoma(191;0.163) all_epithelial(31;0.198) OV - Ovarian serous cystadenocarcinoma(86;3.01e-08)|Epithelial(86;3.43e-07)|all cancers(50;2.01e-06) agcagcaacaacagcagcagc 0.567000 3 44 0 0 1 0 0 P4HA2 8974 broad.mit.edu 37 5 131546166 131546166 + Missense_Mutation SNP G G A TCGA-SR-A6N0-01A-11D-A35I-08 TCGA-SR-A6N0-10A-01D-A35G-08 Untested Somatic Phase_I WXS none Illumina GAIIx 031b30f4-2a2d-4cb5-a2b3-5c3bb6a32394 58d7aaf7-14d1-443c-8b7b-48a900d22a8a g.chr5:131546166G>A ENST00000401867.1 - 7 1088 c.520C>T c.(520-522)Cgc>Tgc p.R174C P4HA2_ENST00000360568.3_Missense_Mutation_p.R174C|P4HA2_ENST00000379104.2_Missense_Mutation_p.R174C|P4HA2_ENST00000166534.4_Missense_Mutation_p.R174C|P4HA2_ENST00000379086.1_Missense_Mutation_p.R174C|P4HA2_ENST00000379100.2_Missense_Mutation_p.R174C O15460 P4HA2_HUMAN prolyl 4-hydroxylase, alpha polypeptide II 174 endoplasmic reticulum lumen electron carrier activity|iron ion binding|L-ascorbic acid binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|procollagen-proline 4-dioxygenase activity|protein binding p.R174C(1) breast(1)|endometrium(3)|kidney(2)|large_intestine(4)|lung(8)|prostate(4)|skin(1)|upper_aerodigestive_tract(1) 24 all_cancers(142;0.103)|Breast(839;0.198) KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365) L-Proline(DB00172)|Succinic acid(DB00139) TAGGCCGAGCGGCCCATCCCA 0.537000 22 354 0 0 1 0 0 BAGE2 85319 broad.mit.edu 37 21 11098863 11098863 + RNA SNP A A G rs75318310 by1000genomes TCGA-SR-A6N0-01A-11D-A35I-08 TCGA-SR-A6N0-10A-01D-A35G-08 Untested Somatic Phase_I WXS none Illumina GAIIx 031b30f4-2a2d-4cb5-a2b3-5c3bb6a32394 58d7aaf7-14d1-443c-8b7b-48a900d22a8a g.chr21:11098863A>G ENST00000470054.1 - 0 62 B melanoma antigen family, member 2 Colorectal(6;3.44e-05)|COAD - Colon adenocarcinoma(6;0.00727)|READ - Rectum adenocarcinoma(6;0.0723) UCEC - Uterine corpus endometrioid carcinoma (6;0.0974)|all cancers(6;2.54e-22)|Epithelial(6;4.21e-19)|OV - Ovarian serous cystadenocarcinoma(6;1.16e-09)|BRCA - Breast invasive adenocarcinoma(6;7.72e-05)|Lung(8;0.000189)|LUSC - Lung squamous cell carcinoma(6;0.00379)|GBM - Glioblastoma multiforme(6;0.00391)|Kidney(17;0.0773)|LUAD - Lung adenocarcinoma(8;0.247) ccagcctccaactcccccttc 0.627000 3 19 0 0 1 0 0 FRG1BP 284802 broad.mit.edu 37 20 29628236 29628236 + Missense_Mutation SNP G G C rs145412486 by1000genomes TCGA-SR-A6N0-01A-11D-A35I-08 TCGA-SR-A6N0-10A-01D-A35G-08 Untested Somatic Phase_I WXS none Illumina GAIIx 031b30f4-2a2d-4cb5-a2b3-5c3bb6a32394 58d7aaf7-14d1-443c-8b7b-48a900d22a8a g.chr20:29628236G>C ENST00000278882.3 + 6 618 c.238G>C c.(238-240)Gct>Cct p.A80P FRG1B_ENST00000358464.4_Missense_Mutation_p.A80P|FRG1B_ENST00000439954.2_Missense_Mutation_p.A85P p.A80P(8) endometrium(10)|kidney(21)|lung(3)|pancreas(1)|prostate(9)|urinary_tract(9) 53 GGGGAAAATGGCTTTGTTGGC 0.363000 7 131 0 0 1 0 0 OR1J2 26740 broad.mit.edu 37 9 125273104 125273104 + Silent SNP C C T TCGA-SR-A6N0-01A-11D-A35I-08 TCGA-SR-A6N0-10A-01D-A35G-08 Untested Somatic Phase_I WXS none Illumina GAIIx 031b30f4-2a2d-4cb5-a2b3-5c3bb6a32394 58d7aaf7-14d1-443c-8b7b-48a900d22a8a g.chr9:125273104C>T ENST00000335302.5 + 1 24 c.24C>T c.(22-24)agC>agT p.S8S NM_054107.1 NP_473448.1 Q8NGS2 OR1J2_HUMAN olfactory receptor, family 1, subfamily J, member 2 8 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity NS(1)|breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(3)|lung(8)|pancreas(1)|skin(7)|stomach(1) 26 ACCAGAGCAGCGTGTCCGAGT 0.527000 4 96 0 0 1 0 0 NOTCH1 4851 broad.mit.edu 37 9 139414008 139414008 + Missense_Mutation SNP C C T TCGA-SR-A6N0-01A-11D-A35I-08 TCGA-SR-A6N0-10A-01D-A35G-08 Untested Somatic Phase_I WXS none Illumina GAIIx 031b30f4-2a2d-4cb5-a2b3-5c3bb6a32394 58d7aaf7-14d1-443c-8b7b-48a900d22a8a g.chr9:139414008C>T ENST00000277541.6 - 5 827 c.752G>A c.(751-753)gGc>gAc p.G251D NM_017617.3 NP_060087.3 P46531 NOTC1_HUMAN notch 1 251 EGF-like 6. aortic valve morphogenesis|immune response|negative regulation of BMP signaling pathway|negative regulation of cell-substrate adhesion|negative regulation of myoblast differentiation|negative regulation of osteoblast differentiation|negative regulation of transcription, DNA-dependent|Notch receptor processing cytosol|endoplasmic reticulum lumen|extracellular region|Golgi lumen|integral to membrane|nucleoplasm|plasma membrane calcium ion binding|protein binding|receptor activity breast(16)|central_nervous_system(17)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1183)|kidney(4)|large_intestine(1)|lung(57)|oesophagus(2)|ovary(3)|pancreas(1)|prostate(3)|skin(21)|upper_aerodigestive_tract(39)|urinary_tract(3) 1359 all_cancers(76;0.223) Myeloproliferative disorder(178;0.0511) OV - Ovarian serous cystadenocarcinoma(145;5.34e-06)|Epithelial(140;7.77e-06) ACAGTTCTGGCCGGTGAAGCC 0.622000 """T, Mis, O""" TRB@ T-ALL HNSCC(8;0.001) 5 217 0 0 1 0 0 ALG6 29929 broad.mit.edu 37 1 63877718 63877718 + Frame_Shift_Del DEL C C - TCGA-SR-A6N0-01A-11D-A35I-08 TCGA-SR-A6N0-10A-01D-A35G-08 Untested Somatic Phase_I WXS none Illumina GAIIx 031b30f4-2a2d-4cb5-a2b3-5c3bb6a32394 58d7aaf7-14d1-443c-8b7b-48a900d22a8a g.chr1:63877718delC ENST00000371108.4 + 9 1107 c.802delC c.(802-804)gtfs p.R268fs ALG6_ENST00000263440.4_Frame_Shift_Del_p.R270fs NM_013339.3 NP_037471.2 Q9Y672 ALG6_HUMAN ALG6, alpha-1,3-glucosyltransferase 268 dolichol-linked oligosaccharide biosynthetic process|post-translational protein modification|protein N-linked glycosylation via asparagine endoplasmic reticulum membrane|integral to membrane dolichyl-phosphate-glucose-glycolipid alpha-glucosyltransferase activity endometrium(1)|large_intestine(4)|lung(5)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 13 CCCGGTTGATCGTGGATTATT 0.438 42 140 --- --- --- --- RP11-782C8.2 0 broad.mit.edu 37 1 143196702 143196702 + RNA DEL T T - TCGA-SR-A6N0-01A-11D-A35I-08 TCGA-SR-A6N0-10A-01D-A35G-08 Untested Somatic Phase_I WXS none Illumina GAIIx 031b30f4-2a2d-4cb5-a2b3-5c3bb6a32394 58d7aaf7-14d1-443c-8b7b-48a900d22a8a g.chr1:143196702delT ENST00000412204.2 - 0 1892 RP11-782C8.1_ENST00000438000.1_lincRNA CCTGTTGTACTTTTTTCATAG 0.313 2 4 --- --- --- --- RP11-649A16.1 0 broad.mit.edu 37 3 146995077 146995077 + RNA DEL A A - TCGA-SR-A6N0-01A-11D-A35I-08 TCGA-SR-A6N0-10A-01D-A35G-08 Untested Somatic Phase_I WXS none Illumina GAIIx 031b30f4-2a2d-4cb5-a2b3-5c3bb6a32394 58d7aaf7-14d1-443c-8b7b-48a900d22a8a g.chr3:146995077delA ENST00000473299.1 - 0 132 TCTGGACTGtaaaaaaaaaaa 0.294 4 3 --- --- --- --- ZIC2 7546 broad.mit.edu 37 13 100635008 100635010 + In_Frame_Del DEL CCA CCA - TCGA-SR-A6N0-01A-11D-A35I-08 TCGA-SR-A6N0-10A-01D-A35G-08 Untested Somatic Phase_I WXS none Illumina GAIIx 031b30f4-2a2d-4cb5-a2b3-5c3bb6a32394 58d7aaf7-14d1-443c-8b7b-48a900d22a8a g.chr13:100635008_100635010delCCA ENST00000376335.3 + 1 983_985 c.690_692delCCA c.(688-693)gcc>gc p.AH230del NM_007129.3 NP_009060.2 O95409 ZIC2_HUMAN Zic family member 2 230 Necessary for interaction with MDFIC and transcriptional activation or repression (By similarity).|Poly-Ala. brain development|negative regulation of transcription, DNA-dependent|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of transcription, DNA-dependent|visual perception cytoplasm|nucleus chromatin DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding large_intestine(2)|liver(2)|lung(5)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 13 all_neural(89;0.0837)|Medulloblastoma(90;0.18)|Lung SC(71;0.184) CAGCCGCGGCccaccaccaccac 0.621 7 54 --- --- --- ---