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 SLC35D2 11046 broad.mit.edu 37 9 99083567 99083567 + Missense_Mutation SNP T T C TCGA-BJ-A28T-01A-11D-A16O-08 TCGA-BJ-A28T-10A-01D-A16O-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4f018056-6042-4651-819c-869d8027a17e 530e1ddc-1a12-416e-9172-4a52473e61eb g.chr9:99083567T>C ENST00000253270.7 - 12 1033 c.971A>G c.(970-972)aAa>aGa p.K324R SLC35D2_ENST00000375259.4_Missense_Mutation_p.K236R NM_007001.2 NP_008932.2 Q76EJ3 S35D2_HUMAN solute carrier family 35 (UDP-GlcNAc/UDP-glucose transporter), member D2 324 Golgi membrane|integral to membrane nucleotide-sugar transmembrane transporter activity endometrium(3)|large_intestine(3)|lung(4)|skin(2) 12 Acute lymphoblastic leukemia(62;0.0167) ACCCACAGGTTTAGGTTTTAA 0.448000 6 68 0 0 0.001168 0 0 GLUD1P2 0 broad.mit.edu 37 10 48968566 48968566 + RNA SNP A A G TCGA-BJ-A28T-01A-11D-A16O-08 TCGA-BJ-A28T-10A-01D-A16O-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4f018056-6042-4651-819c-869d8027a17e 530e1ddc-1a12-416e-9172-4a52473e61eb g.chr10:48968566A>G ENST00000594520.1 + 0 723 ACAGGATAACAAACTGGAAAA 0.318000 4 88 0 0 0.000602 0 0 IGKV1D-43 0 broad.mit.edu 37 2 90249221 90249221 + RNA SNP G G A TCGA-BJ-A28T-01A-11D-A16O-08 TCGA-BJ-A28T-10A-01D-A16O-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4f018056-6042-4651-819c-869d8027a17e 530e1ddc-1a12-416e-9172-4a52473e61eb g.chr2:90249221G>A ENST00000468879.1 + 0 358 CCTGGTATCAGCAAAAACCAG 0.502000 5 338 0 0 0.001168 0 0 MLLT3 4300 broad.mit.edu 37 9 20414340 20414340 + Silent SNP G G A TCGA-BJ-A28T-01A-11D-A16O-08 TCGA-BJ-A28T-10A-01D-A16O-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4f018056-6042-4651-819c-869d8027a17e 530e1ddc-1a12-416e-9172-4a52473e61eb g.chr9:20414340G>A ENST00000380338.4 - 5 790 c.504C>T c.(502-504)agC>agT p.S168S MLLT3_ENST00000429426.2_Silent_p.S165S|MLLT3_ENST00000355930.6_5'UTR|MLLT3_ENST00000475957.1_5'UTR NM_004529.2 NP_004520.2 P42568 AF9_HUMAN myeloid/lymphoid or mixed-lineage leukemia (trithorax homolog, Drosophila); translocated to, 3 168 Poly-Ser. regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus protein binding p.S168S(5) central_nervous_system(1)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(6)|lung(24)|ovary(1)|prostate(4)|skin(1)|urinary_tract(7) 66 GBM - Glioblastoma multiforme(3;4.35e-105)|Lung(42;3.48e-06)|LUSC - Lung squamous cell carcinoma(42;7.92e-05) tgctgctgctgctactgctgc 0.537000 T MLL ALL 4 43 0 0 0.000248 0 0 ATM 472 broad.mit.edu 37 11 108200988 108200988 + Missense_Mutation SNP T T C TCGA-BJ-A28T-01A-11D-A16O-08 TCGA-BJ-A28T-10A-01D-A16O-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4f018056-6042-4651-819c-869d8027a17e 530e1ddc-1a12-416e-9172-4a52473e61eb g.chr11:108200988T>C ENST00000278616.4 + 50 7740 c.7355T>C c.(7354-7356)cTg>cCg p.L2452P C11orf65_ENST00000525729.1_Intron|ATM_ENST00000452508.2_Missense_Mutation_p.L2452P NM_000051.3 NP_000042.3 Q13315 ATM_HUMAN ataxia telangiectasia mutated 2452 FAT. cell cycle arrest|cellular response to gamma radiation|DNA damage induced protein phosphorylation|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|double-strand break repair via homologous recombination|G2/M transition DNA damage checkpoint|histone mRNA catabolic process|mitotic cell cycle spindle assembly checkpoint|negative regulation of B cell proliferation|peptidyl-serine phosphorylation|positive regulation of DNA damage response, signal transduction by p53 class mediator|pre-B cell allelic exclusion|protein autophosphorylation|reciprocal meiotic recombination|replicative senescence cytoplasmic membrane-bounded vesicle|nucleoplasm 1-phosphatidylinositol-3-kinase activity|ATP binding|DNA binding|DNA-dependent protein kinase activity|identical protein binding|protein complex binding|protein dimerization activity|protein N-terminus binding NS(4)|breast(23)|central_nervous_system(11)|endometrium(10)|haematopoietic_and_lymphoid_tissue(227)|kidney(19)|large_intestine(53)|liver(5)|lung(62)|ovary(6)|pancreas(4)|prostate(13)|skin(4)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(3) 448 all_cancers(61;9.64e-12)|all_epithelial(67;9.97e-08)|Melanoma(852;2.55e-06)|Acute lymphoblastic leukemia(157;3.95e-05)|all_hematologic(158;0.00014)|Breast(348;0.0258)|all_neural(303;0.072) Epithelial(105;9.05e-06)|BRCA - Breast invasive adenocarcinoma(274;1.06e-05)|all cancers(92;0.000208)|Colorectal(284;0.116)|OV - Ovarian serous cystadenocarcinoma(223;0.147) GAATTAGCCCTGCGTGCACTG 0.373000 """D, Mis, N, F, S""" T-PLL """leukemia, lymphoma, medulloblastoma, glioma""" Genes defective in diseases associated with sensitivity to DNA damaging agents Ataxia Telangiectasia TSP Lung(14;0.12) 3 67 0 0 0.004672 0 0 NLRP1 22861 broad.mit.edu 37 17 5418798 5418798 + Missense_Mutation SNP C C T TCGA-BJ-A28T-01A-11D-A16O-08 TCGA-BJ-A28T-10A-01D-A16O-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4f018056-6042-4651-819c-869d8027a17e 530e1ddc-1a12-416e-9172-4a52473e61eb g.chr17:5418798C>T ENST00000345221.3 - 15 4519 c.3965G>A c.(3964-3966)cGc>cAc p.R1322H NLRP1_ENST00000354411.3_Missense_Mutation_p.R1336H|NLRP1_ENST00000262467.5_Intron|NLRP1_ENST00000572272.1_Missense_Mutation_p.R1366H|NLRP1_ENST00000577119.1_Missense_Mutation_p.R1292H|NLRP1_ENST00000269280.4_Missense_Mutation_p.R1322H NM_014922.4|NM_033004.3|NM_033007.3 NP_055737.1|NP_127497.1|NP_127500.1 Q9C000 NALP1_HUMAN NLR family, pyrin domain containing 1 1366 defense response to bacterium|induction of apoptosis|neuron apoptosis|positive regulation of interleukin-1 beta secretion|response to muramyl dipeptide cytoplasm|NALP1 inflammasome complex|nucleus ATP binding|caspase activator activity|enzyme binding|protein domain specific binding breast(4)|central_nervous_system(1)|cervix(1)|endometrium(7)|kidney(2)|large_intestine(17)|liver(5)|lung(17)|ovary(1)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 65 Colorectal(1115;3.48e-05) CTGACCTATGCGGGCTGGAGG 0.507000 4 70 0 0 0.000602 0 0 ZNF345 25850 broad.mit.edu 37 19 37369148 37369148 + Silent SNP T T C TCGA-BJ-A28T-01A-11D-A16O-08 TCGA-BJ-A28T-10A-01D-A16O-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4f018056-6042-4651-819c-869d8027a17e 530e1ddc-1a12-416e-9172-4a52473e61eb g.chr19:37369148T>C ENST00000529555.1 + 2 2204 c.1416T>C c.(1414-1416)caT>caC p.H472H ZNF345_ENST00000420450.1_Silent_p.H472H|ZNF345_ENST00000526123.1_Intron|ZNF345_ENST00000589046.1_Silent_p.H472H|ZNF345_ENST00000432005.2_Intron Q14585 ZN345_HUMAN zinc finger protein 345 472 negative regulation of transcription from RNA polymerase II promoter|regulation of transcription from RNA polymerase III promoter|transcription from RNA polymerase II promoter|transcription from RNA polymerase III promoter nucleus DNA binding|zinc ion binding breast(1)|endometrium(1)|kidney(1)|large_intestine(13)|lung(5)|ovary(2)|prostate(1) 24 Esophageal squamous(110;0.183) COAD - Colon adenocarcinoma(19;0.114)|Colorectal(19;0.177) TTCAGCAACATAAGAAAAGTC 0.358000 3 189 0 0 0.004672 0 0 NCOA6 23054 broad.mit.edu 37 20 33345744 33345744 + Silent SNP C C T TCGA-BJ-A28T-01A-11D-A16O-08 TCGA-BJ-A28T-10A-01D-A16O-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4f018056-6042-4651-819c-869d8027a17e 530e1ddc-1a12-416e-9172-4a52473e61eb g.chr20:33345744C>T ENST00000374796.2 - 8 3377 c.807G>A c.(805-807)caG>caA p.Q269Q NCOA6_ENST00000359003.2_Silent_p.Q269Q Q14686 NCOA6_HUMAN nuclear receptor coactivator 6 269 CREBBP-binding region.|Gln-rich.|NCOA1-binding region.|TBP/GTF2A-binding region. brain development|cellular lipid metabolic process|DNA recombination|DNA repair|DNA replication|estrogen receptor signaling pathway|glucocorticoid receptor signaling pathway|heart development|myeloid cell differentiation|positive regulation of transcription from RNA polymerase II promoter|response to hormone stimulus|transcription initiation from RNA polymerase II promoter transcription factor complex chromatin binding|enzyme binding|estrogen receptor binding|ligand-dependent nuclear receptor transcription coactivator activity|retinoid X receptor binding|thyroid hormone receptor binding p.Q269Q(15) NS(2)|breast(6)|central_nervous_system(3)|cervix(1)|endometrium(9)|kidney(8)|large_intestine(16)|lung(37)|ovary(4)|prostate(5)|skin(13)|upper_aerodigestive_tract(2)|urinary_tract(1) 107 gctgctgctgctgttgttgtt 0.537000 3 50 0 0 0.004672 0 0 SLC35D2 11046 broad.mit.edu 37 9 99083567 99083567 + Missense_Mutation SNP T T C TCGA-BJ-A28T-01A-11D-A16O-08 TCGA-BJ-A28T-11A-11D-A17V-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4f018056-6042-4651-819c-869d8027a17e 2e6f101a-4c11-4f60-8549-6f4eec0c4121 g.chr9:99083567T>C ENST00000253270.7 - 12 1033 c.971A>G c.(970-972)aAa>aGa p.K324R SLC35D2_ENST00000375259.4_Missense_Mutation_p.K236R NM_007001.2 NP_008932.2 Q76EJ3 S35D2_HUMAN solute carrier family 35 (UDP-GlcNAc/UDP-glucose transporter), member D2 324 Golgi membrane|integral to membrane nucleotide-sugar transmembrane transporter activity endometrium(3)|large_intestine(3)|lung(4)|skin(2) 12 Acute lymphoblastic leukemia(62;0.0167) ACCCACAGGTTTAGGTTTTAA 0.448000 6 68 0 0 0.001168 0 0 FRG1B 0 broad.mit.edu 37 20 29628299 29628299 + Missense_Mutation SNP A A G TCGA-BJ-A28T-01A-11D-A16O-08 TCGA-BJ-A28T-11A-11D-A17V-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4f018056-6042-4651-819c-869d8027a17e 2e6f101a-4c11-4f60-8549-6f4eec0c4121 g.chr20:29628299A>G ENST00000278882.3 + 6 681 c.301A>G c.(301-303)Agt>Ggt p.S101G FRG1B_ENST00000439954.2_Missense_Mutation_p.S106G|FRG1B_ENST00000358464.4_Missense_Mutation_p.S101G endometrium(10)|kidney(21)|lung(3)|pancreas(1)|prostate(9)|urinary_tract(9) 53 AGAAGCAAAAAGTAAAACAGC 0.363000 4 80 0 0 0.006214 0 0 HSD17B7P2 0 broad.mit.edu 37 10 38654432 38654432 + RNA SNP A A G rs2257765 TCGA-BJ-A28T-01A-11D-A16O-08 TCGA-BJ-A28T-11A-11D-A17V-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4f018056-6042-4651-819c-869d8027a17e 2e6f101a-4c11-4f60-8549-6f4eec0c4121 g.chr10:38654432A>G ENST00000494540.1 + 0 599 NR_003086.1 TCATCTCGCAATGCAAGGAAA 0.453000 3 82 0 0 0.004672 0 0 FRG1B 0 broad.mit.edu 37 20 29628236 29628236 + Missense_Mutation SNP G G C rs145412486 by1000genomes TCGA-BJ-A28T-01A-11D-A16O-08 TCGA-BJ-A28T-11A-11D-A17V-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4f018056-6042-4651-819c-869d8027a17e 2e6f101a-4c11-4f60-8549-6f4eec0c4121 g.chr20:29628236G>C ENST00000278882.3 + 6 618 c.238G>C c.(238-240)Gct>Cct p.A80P FRG1B_ENST00000439954.2_Missense_Mutation_p.A85P|FRG1B_ENST00000358464.4_Missense_Mutation_p.A80P p.A80P(8) endometrium(10)|kidney(21)|lung(3)|pancreas(1)|prostate(9)|urinary_tract(9) 53 GGGGAAAATGGCTTTGTTGGC 0.363000 6 136 0 0 0.001984 0 0 GLUD1P2 0 broad.mit.edu 37 10 48968566 48968566 + RNA SNP A A G TCGA-BJ-A28T-01A-11D-A16O-08 TCGA-BJ-A28T-11A-11D-A17V-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4f018056-6042-4651-819c-869d8027a17e 2e6f101a-4c11-4f60-8549-6f4eec0c4121 g.chr10:48968566A>G ENST00000594520.1 + 0 723 ACAGGATAACAAACTGGAAAA 0.318000 4 88 0 0 0.000602 0 0 IGKV1D-43 0 broad.mit.edu 37 2 90249221 90249221 + RNA SNP G G A TCGA-BJ-A28T-01A-11D-A16O-08 TCGA-BJ-A28T-11A-11D-A17V-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4f018056-6042-4651-819c-869d8027a17e 2e6f101a-4c11-4f60-8549-6f4eec0c4121 g.chr2:90249221G>A ENST00000468879.1 + 0 358 CCTGGTATCAGCAAAAACCAG 0.502000 5 338 0 0 0.001168 0 0 KRTAP4-6 81871 broad.mit.edu 37 17 39296167 39296167 + Silent SNP A A G TCGA-BJ-A28T-01A-11D-A16O-08 TCGA-BJ-A28T-11A-11D-A17V-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4f018056-6042-4651-819c-869d8027a17e 2e6f101a-4c11-4f60-8549-6f4eec0c4121 g.chr17:39296167A>G ENST00000345847.4 - 1 572 c.573T>C c.(571-573)atT>atC p.I191I NM_030976.1 NP_112238.1 Q9BYQ5 KRA46_HUMAN keratin associated protein 4-6 187 keratin filament endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|lung(1)|prostate(1)|urinary_tract(1) 9 GGCAGGTGGAAATGACACAGG 0.627000 4 12 0 0 0.001168 0 0 ATM 472 broad.mit.edu 37 11 108200988 108200988 + Missense_Mutation SNP T T C TCGA-BJ-A28T-01A-11D-A16O-08 TCGA-BJ-A28T-11A-11D-A17V-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4f018056-6042-4651-819c-869d8027a17e 2e6f101a-4c11-4f60-8549-6f4eec0c4121 g.chr11:108200988T>C ENST00000278616.4 + 50 7740 c.7355T>C c.(7354-7356)cTg>cCg p.L2452P ATM_ENST00000452508.2_Missense_Mutation_p.L2452P|C11orf65_ENST00000525729.1_Intron NM_000051.3 NP_000042.3 Q13315 ATM_HUMAN ataxia telangiectasia mutated 2452 FAT. cell cycle arrest|cellular response to gamma radiation|DNA damage induced protein phosphorylation|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|double-strand break repair via homologous recombination|G2/M transition DNA damage checkpoint|histone mRNA catabolic process|mitotic cell cycle spindle assembly checkpoint|negative regulation of B cell proliferation|peptidyl-serine phosphorylation|positive regulation of DNA damage response, signal transduction by p53 class mediator|pre-B cell allelic exclusion|protein autophosphorylation|reciprocal meiotic recombination|replicative senescence cytoplasmic membrane-bounded vesicle|nucleoplasm 1-phosphatidylinositol-3-kinase activity|ATP binding|DNA binding|DNA-dependent protein kinase activity|identical protein binding|protein complex binding|protein dimerization activity|protein N-terminus binding NS(4)|breast(23)|central_nervous_system(11)|endometrium(10)|haematopoietic_and_lymphoid_tissue(227)|kidney(19)|large_intestine(53)|liver(5)|lung(62)|ovary(6)|pancreas(4)|prostate(13)|skin(4)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(3) 448 all_cancers(61;9.64e-12)|all_epithelial(67;9.97e-08)|Melanoma(852;2.55e-06)|Acute lymphoblastic leukemia(157;3.95e-05)|all_hematologic(158;0.00014)|Breast(348;0.0258)|all_neural(303;0.072) Epithelial(105;9.05e-06)|BRCA - Breast invasive adenocarcinoma(274;1.06e-05)|all cancers(92;0.000208)|Colorectal(284;0.116)|OV - Ovarian serous cystadenocarcinoma(223;0.147) GAATTAGCCCTGCGTGCACTG 0.373000 """D, Mis, N, F, S""" T-PLL """leukemia, lymphoma, medulloblastoma, glioma""" Genes defective in diseases associated with sensitivity to DNA damaging agents Ataxia Telangiectasia TSP Lung(14;0.12) 3 67 0 0 0.004672 0 0 TUBB8P7 0 broad.mit.edu 37 16 90161926 90161926 + RNA SNP T T C rs8061283 by1000genomes TCGA-BJ-A28T-01A-11D-A16O-08 TCGA-BJ-A28T-11A-11D-A17V-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4f018056-6042-4651-819c-869d8027a17e 2e6f101a-4c11-4f60-8549-6f4eec0c4121 g.chr16:90161926T>C ENST00000567960.1 + 0 662 TUBB8P7_ENST00000564451.1_RNA p.I221T(3) CCCACACCCATCTATGGTGAC 0.527000 5 60 0 0 0.001168 0 0 NLRP1 22861 broad.mit.edu 37 17 5418798 5418798 + Missense_Mutation SNP C C T TCGA-BJ-A28T-01A-11D-A16O-08 TCGA-BJ-A28T-11A-11D-A17V-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4f018056-6042-4651-819c-869d8027a17e 2e6f101a-4c11-4f60-8549-6f4eec0c4121 g.chr17:5418798C>T ENST00000345221.3 - 15 4519 c.3965G>A c.(3964-3966)cGc>cAc p.R1322H NLRP1_ENST00000572272.1_Missense_Mutation_p.R1366H|NLRP1_ENST00000269280.4_Missense_Mutation_p.R1322H|NLRP1_ENST00000262467.5_Intron|NLRP1_ENST00000577119.1_Missense_Mutation_p.R1292H|NLRP1_ENST00000354411.3_Missense_Mutation_p.R1336H NM_014922.4|NM_033004.3|NM_033007.3 NP_055737.1|NP_127497.1|NP_127500.1 Q9C000 NALP1_HUMAN NLR family, pyrin domain containing 1 1366 defense response to bacterium|induction of apoptosis|neuron apoptosis|positive regulation of interleukin-1 beta secretion|response to muramyl dipeptide cytoplasm|NALP1 inflammasome complex|nucleus ATP binding|caspase activator activity|enzyme binding|protein domain specific binding breast(4)|central_nervous_system(1)|cervix(1)|endometrium(7)|kidney(2)|large_intestine(17)|liver(5)|lung(17)|ovary(1)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 65 Colorectal(1115;3.48e-05) CTGACCTATGCGGGCTGGAGG 0.507000 4 70 0 0 0.000602 0 0 ZNF345 25850 broad.mit.edu 37 19 37369148 37369148 + Silent SNP T T C TCGA-BJ-A28T-01A-11D-A16O-08 TCGA-BJ-A28T-11A-11D-A17V-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4f018056-6042-4651-819c-869d8027a17e 2e6f101a-4c11-4f60-8549-6f4eec0c4121 g.chr19:37369148T>C ENST00000529555.1 + 2 2204 c.1416T>C c.(1414-1416)caT>caC p.H472H ZNF345_ENST00000420450.1_Silent_p.H472H|ZNF345_ENST00000526123.1_Intron|ZNF345_ENST00000432005.2_Intron|ZNF345_ENST00000589046.1_Silent_p.H472H Q14585 ZN345_HUMAN zinc finger protein 345 472 negative regulation of transcription from RNA polymerase II promoter|regulation of transcription from RNA polymerase III promoter|transcription from RNA polymerase II promoter|transcription from RNA polymerase III promoter nucleus DNA binding|zinc ion binding breast(1)|endometrium(1)|kidney(1)|large_intestine(13)|lung(5)|ovary(2)|prostate(1) 24 Esophageal squamous(110;0.183) COAD - Colon adenocarcinoma(19;0.114)|Colorectal(19;0.177) TTCAGCAACATAAGAAAAGTC 0.358000 3 189 0 0 0.004672 0 0 NCOA6 23054 broad.mit.edu 37 20 33345744 33345744 + Silent SNP C C T TCGA-BJ-A28T-01A-11D-A16O-08 TCGA-BJ-A28T-11A-11D-A17V-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4f018056-6042-4651-819c-869d8027a17e 2e6f101a-4c11-4f60-8549-6f4eec0c4121 g.chr20:33345744C>T ENST00000374796.2 - 8 3377 c.807G>A c.(805-807)caG>caA p.Q269Q NCOA6_ENST00000359003.2_Silent_p.Q269Q Q14686 NCOA6_HUMAN nuclear receptor coactivator 6 269 CREBBP-binding region.|Gln-rich.|NCOA1-binding region.|TBP/GTF2A-binding region. brain development|cellular lipid metabolic process|DNA recombination|DNA repair|DNA replication|estrogen receptor signaling pathway|glucocorticoid receptor signaling pathway|heart development|myeloid cell differentiation|positive regulation of transcription from RNA polymerase II promoter|response to hormone stimulus|transcription initiation from RNA polymerase II promoter transcription factor complex chromatin binding|enzyme binding|estrogen receptor binding|ligand-dependent nuclear receptor transcription coactivator activity|retinoid X receptor binding|thyroid hormone receptor binding p.Q269Q(15) NS(2)|breast(6)|central_nervous_system(3)|cervix(1)|endometrium(9)|kidney(8)|large_intestine(16)|lung(37)|ovary(4)|prostate(5)|skin(13)|upper_aerodigestive_tract(2)|urinary_tract(1) 107 gctgctgctgctgttgttgtt 0.537000 3 50 0 0 0.004672 0 0 NAP1L5 266812 broad.mit.edu 37 4 89618484 89618486 + In_Frame_Del DEL TCC TCC - TCGA-BJ-A28T-01A-11D-A16O-08 TCGA-BJ-A28T-10A-01D-A16O-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4f018056-6042-4651-819c-869d8027a17e 530e1ddc-1a12-416e-9172-4a52473e61eb g.chr4:89618484_89618486delTCC ENST00000323061.5 - 1 900_902 c.420_422delGGA c.(418-423)gaa>ga p.EE142del HERC3_ENST00000402738.1_Intron|HERC3_ENST00000264345.3_Intron|HERC3_ENST00000543130.1_Intron NM_153757.2 NP_715638.1 Q96NT1 NP1L5_HUMAN nucleosome assembly protein 1-like 5 142 Glu-rich. nucleosome assembly nucleus protein binding endometrium(2)|lung(3)|skin(1)|upper_aerodigestive_tract(1) 7 OV - Ovarian serous cystadenocarcinoma(123;0.000181) gtactcctcttcctcctcctcct 0.606 7 98 --- --- --- --- LA16c-23H5.4 0 broad.mit.edu 37 22 16419352 16419352 + RNA DEL T T - TCGA-BJ-A28T-01A-11D-A16O-08 TCGA-BJ-A28T-10A-01D-A16O-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4f018056-6042-4651-819c-869d8027a17e 530e1ddc-1a12-416e-9172-4a52473e61eb g.chr22:16419352delT ENST00000444162.1 + 0 279 GAATCGACGATTTTTTTTTTG 0.398 3 6 --- --- --- --- TBP 6908 broad.mit.edu 37 6 170871013 170871014 + In_Frame_Ins INS - - CAG rs72320253 TCGA-BJ-A28T-01A-11D-A16O-08 TCGA-BJ-A28T-11A-11D-A17V-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4f018056-6042-4651-819c-869d8027a17e 2e6f101a-4c11-4f60-8549-6f4eec0c4121 g.chr6:170871013_170871014insCAG ENST00000392092.2 + 3 468_469 c.189_190insCAG c.(187-192)caagca>caCAGagca p.63_63Q>HR TBP_ENST00000230354.6_In_Frame_Ins_p.63_63Q>HR|TBP_ENST00000540980.1_In_Frame_Ins_p.43_43Q>HR NM_003194.4 NP_003185.1 P20226 TBP_HUMAN TATA box binding protein 63 Poly-Gln. cell death|interspecies interaction between organisms|transcription elongation from RNA polymerase II promoter|transcription from RNA polymerase III promoter|viral reproduction transcription factor TFIIA complex|transcription factor TFIID complex repressing transcription factor binding|transcription regulatory region DNA binding p.Q63_Q64insQ(1)|p.Q63Q(1) breast(2)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(2)|lung(9)|ovary(1)|prostate(4)|urinary_tract(1) 26 Breast(66;5.08e-05)|Ovarian(120;0.125)|Esophageal squamous(34;0.246) OV - Ovarian serous cystadenocarcinoma(33;1.07e-22)|BRCA - Breast invasive adenocarcinoma(81;5.01e-06)|GBM - Glioblastoma multiforme(31;0.00591) agcaacaacaacagcagcagca 0.550 29 52 --- --- --- --- RP11-33N16.3 0 broad.mit.edu 37 14 90203668 90203668 + RNA DEL C C - rs67505159 TCGA-BJ-A28T-01A-11D-A16O-08 TCGA-BJ-A28T-11A-11D-A17V-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4f018056-6042-4651-819c-869d8027a17e 2e6f101a-4c11-4f60-8549-6f4eec0c4121 g.chr14:90203668delC ENST00000555070.1 - 0 170 CTCTTTCTTTCtttttttttt 0.368 4 8 --- --- --- --- SPATA5L1 79029 broad.mit.edu 37 15 45710840 45710841 + Frame_Shift_Ins INS - - T TCGA-BJ-A28T-01A-11D-A16O-08 TCGA-BJ-A28T-11A-11D-A17V-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4f018056-6042-4651-819c-869d8027a17e 2e6f101a-4c11-4f60-8549-6f4eec0c4121 g.chr15:45710840_45710841insT ENST00000305560.6 + 7 2153_2154 c.2054_2055insT c.(2053-2055)tttfs p.F685fs SPATA5L1_ENST00000533841.1_3'UTR NM_024063.2 NP_076968.2 Q9BVQ7 SPA5L_HUMAN spermatogenesis associated 5-like 1 685 cytoplasm ATP binding|nucleoside-triphosphatase activity kidney(2)|large_intestine(3)|lung(1)|ovary(3)|prostate(3)|skin(1)|upper_aerodigestive_tract(1) 14 Lung NSC(122;8.3e-05)|all_lung(180;0.000547)|Melanoma(134;0.0417) all cancers(107;7.31e-17)|GBM - Glioblastoma multiforme(94;6.28e-07) GCAGAAACCTGTTTTTTTTCTG 0.361 8 125 --- --- --- --- FAM174B 400451 broad.mit.edu 37 15 93198679 93198684 + In_Frame_Del DEL TGGAGC TGGAGC - rs66488707 TCGA-BJ-A28T-01A-11D-A16O-08 TCGA-BJ-A28T-11A-11D-A17V-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4f018056-6042-4651-819c-869d8027a17e 2e6f101a-4c11-4f60-8549-6f4eec0c4121 g.chr15:93198679_93198684delTGGAGC ENST00000327355.5 - 1 504_509 c.206_211delGCTCCA c.(205-213)aac>a p.SSN69del NM_207446.2 NP_997329.2 Q3ZCQ3 F174B_HUMAN family with sequence similarity 174, member B 69 integral to membrane endometrium(2)|lung(1) 3 CCACTGCTGTTGGAGCTGGAGCTGCC 0.714 10 4 --- --- --- --- RRN3P2 0 broad.mit.edu 37 16 29110406 29110406 + RNA DEL T T - TCGA-BJ-A28T-01A-11D-A16O-08 TCGA-BJ-A28T-11A-11D-A17V-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4f018056-6042-4651-819c-869d8027a17e 2e6f101a-4c11-4f60-8549-6f4eec0c4121 g.chr16:29110406delT ENST00000564580.1 + 0 1098 TTAAAAAATCTTTTTTTTTTT 0.299 8 48 --- --- --- --- RP11-51O6.1 0 broad.mit.edu 37 16 61089302 61089302 + RNA DEL C C - rs80101907 TCGA-BJ-A28T-01A-11D-A16O-08 TCGA-BJ-A28T-11A-11D-A17V-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4f018056-6042-4651-819c-869d8027a17e 2e6f101a-4c11-4f60-8549-6f4eec0c4121 g.chr16:61089302delC ENST00000591758.1 - 0 566 GCttcttcttctttttttttt 0.244 16 28 --- --- --- --- FRG1B 0 broad.mit.edu 37 20 29625899 29625900 + Frame_Shift_Ins INS - - AT TCGA-BJ-A28T-01A-11D-A16O-08 TCGA-BJ-A28T-11A-11D-A17V-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4f018056-6042-4651-819c-869d8027a17e 2e6f101a-4c11-4f60-8549-6f4eec0c4121 g.chr20:29625899_29625900insAT ENST00000278882.3 + 5 523_524 c.143_144insAT c.(142-144)atafs p.I48fs FRG1B_ENST00000358464.4_Frame_Shift_Ins_p.I48fs|FRG1B_ENST00000439954.2_Frame_Shift_Ins_p.I53fs endometrium(10)|kidney(21)|lung(3)|pancreas(1)|prostate(9)|urinary_tract(9) 53 GGCTATGGAAAATATCTTGGTA 0.342 7 173 --- --- --- --- PAK3 5063 broad.mit.edu 37 X 110406206 110406208 + In_Frame_Del DEL GAA GAA - TCGA-BJ-A28T-01A-11D-A16O-08 TCGA-BJ-A28T-11A-11D-A17V-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4f018056-6042-4651-819c-869d8027a17e 2e6f101a-4c11-4f60-8549-6f4eec0c4121 g.chrX:110406206_110406208delGAA ENST00000519681.1 + 10 1037_1039 c.595_597delGAA c.(595-597)del p.E203del PAK3_ENST00000417227.1_In_Frame_Del_p.E203del|PAK3_ENST00000360648.4_In_Frame_Del_p.E218del|PAK3_ENST00000518291.1_In_Frame_Del_p.E218del|PAK3_ENST00000446737.1_In_Frame_Del_p.E182del|PAK3_ENST00000425146.1_In_Frame_Del_p.E182del|PAK3_ENST00000372007.4_In_Frame_Del_p.E182del|PAK3_ENST00000372010.1_In_Frame_Del_p.E197del|PAK3_ENST00000262836.4_In_Frame_Del_p.E197del O75914 PAK3_HUMAN p21 protein (Cdc42/Rac)-activated kinase 3 197 Linker. multicellular organismal development ATP binding|metal ion binding|protein serine/threonine kinase activity|SH3 domain binding breast(1)|cervix(1)|endometrium(6)|kidney(1)|large_intestine(7)|lung(15)|ovary(3)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(4) 41 agatgaagaggaagaagaagaag 0.394 TSP Lung(19;0.15) 7 199 --- --- --- ---