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 ITPR2 3709 broad.mit.edu 37 12 26628350 26628350 + Splice_Site SNP A A C TCGA-QR-A70O-01A-11D-A35D-08 TCGA-QR-A70O-10A-01D-A35B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4776a3fb-8da7-4565-9c39-9427b044c297 78f8c217-e394-49cf-bf5a-e75c85240160 g.chr12:26628350A>C ENST00000381340.3 - 45 6637 c.6219_splice c.e45-1 p.V2074_splice NM_002223.2 NP_002214.2 Q14571 ITPR2_HUMAN inositol 1,4,5-trisphosphate receptor, type 2 2074 activation of phospholipase C activity|energy reserve metabolic process|nerve growth factor receptor signaling pathway|platelet activation|regulation of insulin secretion|response to hypoxia integral to membrane|plasma membrane enriched fraction|platelet dense tubular network membrane|sarcoplasmic reticulum membrane calcium ion transmembrane transporter activity|inositol 1,4,5-trisphosphate-sensitive calcium-release channel activity ETV6/ITPR2(2) biliary_tract(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(2)|kidney(16)|large_intestine(20)|liver(1)|lung(51)|ovary(5)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(5)|urinary_tract(3) 125 Colorectal(261;0.0847) CATCACATCCACCTATCCAAA 0.358000 6 37 0 0 1 0 0 ZBTB45 84878 broad.mit.edu 37 19 59028621 59028621 + Silent SNP C C G TCGA-QR-A70O-01A-11D-A35D-08 TCGA-QR-A70O-10A-01D-A35B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4776a3fb-8da7-4565-9c39-9427b044c297 78f8c217-e394-49cf-bf5a-e75c85240160 g.chr19:59028621C>G ENST00000594051.1 - 2 900 c.420G>C c.(418-420)gtG>gtC p.V140V ZBTB45_ENST00000600990.1_Silent_p.V140V|ZBTB45_ENST00000354590.3_Silent_p.V140V Q96K62 ZBT45_HUMAN zinc finger and BTB domain containing 45 140 Pro-rich. regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding breast(2)|endometrium(3)|lung(5)|urinary_tract(1) 11 all_cancers(17;1.81e-17)|all_epithelial(17;1.21e-12)|Lung NSC(17;2.8e-05)|all_lung(17;0.000139)|Colorectal(82;0.000147)|Renal(17;0.00528)|all_neural(62;0.0133)|Ovarian(87;0.156)|Medulloblastoma(540;0.232) UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0165)|Lung(386;0.18) GTGGCGGGGGCACAGGGGTGG 0.701000 OREG0025700 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 5 13 0 0 1 0 0 TPTE2P6 374491 broad.mit.edu 37 13 25161397 25161397 + RNA SNP C C G rs3874227 by1000genomes TCGA-QR-A70O-01A-11D-A35D-08 TCGA-QR-A70O-10A-01D-A35B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4776a3fb-8da7-4565-9c39-9427b044c297 78f8c217-e394-49cf-bf5a-e75c85240160 g.chr13:25161397C>G ENST00000453498.1 + 0 921 TGAAACATCTCTACAACTGGA 0.343000 3 67 0 0 1 0 0 ZNF419 79744 broad.mit.edu 37 19 58004913 58004913 + Missense_Mutation SNP C C G TCGA-QR-A70O-01A-11D-A35D-08 TCGA-QR-A70O-10A-01D-A35B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4776a3fb-8da7-4565-9c39-9427b044c297 78f8c217-e394-49cf-bf5a-e75c85240160 g.chr19:58004913C>G ENST00000424930.2 + 5 1220 c.991C>G c.(991-993)Ctc>Gtc p.L331V ZNF419_ENST00000415379.2_Missense_Mutation_p.L284V|ZNF419_ENST00000347466.6_Missense_Mutation_p.L298V|ZNF419_ENST00000442920.2_Missense_Mutation_p.L317V|AC003005.4_ENST00000601674.1_Intron|ZNF419_ENST00000354197.4_Missense_Mutation_p.L318V|ZNF419_ENST00000221735.7_Missense_Mutation_p.L330V|ZNF419_ENST00000426954.2_Missense_Mutation_p.L318V NM_001098491.1|NM_024691.3 NP_001091961.1|NP_078967.3 Q96HQ0 ZN419_HUMAN zinc finger protein 419 330 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(8)|lung(10)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 26 Colorectal(82;5.46e-05)|all_neural(62;0.0218)|Ovarian(87;0.0694)|Breast(46;0.0848)|Renal(1328;0.157) UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0252)|Lung(386;0.171) CAACTCCAGCCTCATGAAACA 0.408000 30 26 0 0 1 0 0 PRB4 5545 broad.mit.edu 37 12 11461589 11461589 + Missense_Mutation SNP A A G TCGA-QR-A70O-01A-11D-A35D-08 TCGA-QR-A70O-10A-01D-A35B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4776a3fb-8da7-4565-9c39-9427b044c297 78f8c217-e394-49cf-bf5a-e75c85240160 g.chr12:11461589A>G ENST00000279575.1 - 3 361 c.328T>C c.(328-330)Tcc>Ccc p.S110P PRB4_ENST00000445719.2_Missense_Mutation_p.S110P|PRB4_ENST00000535904.1_Missense_Mutation_p.S110P NM_001261399.1|NM_002723.4 NP_001248328.1|NP_002714.2 P10163 PRB4_HUMAN proline-rich protein BstNI subfamily 4 152 9.5 X 21 AA tandem repeats of K-P-[EQ]- [GR]-[PR]-[PR]-P-Q-G-G-N-Q-[PS]-[QH]- [RG]-[PT]-P-P-[PH]-P-G. extracellular region breast(2)|endometrium(2)|kidney(2)|large_intestine(4)|lung(12)|ovary(1)|skin(4)|upper_aerodigestive_tract(3) 30 GTACCTTGGGACTGGTTTCCT 0.602000 HNSCC(22;0.051) 6 213 0 0 1 0 0 ANKRD36C 400986 broad.mit.edu 37 2 96593016 96593016 + Missense_Mutation SNP C C A rs79307257 by1000genomes TCGA-QR-A70O-01A-11D-A35D-08 TCGA-QR-A70O-10A-01D-A35B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4776a3fb-8da7-4565-9c39-9427b044c297 78f8c217-e394-49cf-bf5a-e75c85240160 g.chr2:96593016C>A ENST00000456556.1 - 28 1969 c.1885G>T c.(1885-1887)Gat>Tat p.D629Y ankyrin repeat domain 36C p.D629Y(1) breast(1)|endometrium(8)|kidney(5)|lung(4) 18 GAAACAGAATCTTTCTCATCA 0.318000 4 65 0.014758 0.014758 1 1 0 NUP107 57122 broad.mit.edu 37 12 69115645 69115645 + Missense_Mutation SNP G G A TCGA-QR-A70O-01A-11D-A35D-08 TCGA-QR-A70O-10A-01D-A35B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4776a3fb-8da7-4565-9c39-9427b044c297 78f8c217-e394-49cf-bf5a-e75c85240160 g.chr12:69115645G>A ENST00000229179.4 + 16 1668 c.1336G>A c.(1336-1338)Gaa>Aaa p.E446K NUP107_ENST00000378905.2_Missense_Mutation_p.E295K|NUP107_ENST00000539906.1_Missense_Mutation_p.E417K NM_020401.2 NP_065134.1 P57740 NU107_HUMAN nucleoporin 107kDa 446 carbohydrate metabolic process|glucose transport|mitotic prometaphase|mRNA export from nucleus|protein transport|regulation of glucose transport|transmembrane transport|viral reproduction condensed chromosome kinetochore|cytosol|Nup107-160 complex nucleocytoplasmic transporter activity|protein binding NUP107/LGR5(2) breast(3)|endometrium(4)|kidney(4)|large_intestine(12)|lung(11)|prostate(1)|skin(2)|urinary_tract(2) 39 Breast(13;6.25e-06) Lung(24;0.000131)|LUAD - Lung adenocarcinoma(15;0.00107)|STAD - Stomach adenocarcinoma(21;0.00694) TGACACCTGGGAAGACACAGT 0.438000 4 81 0 0 1 0 0 KIAA0247 9766 broad.mit.edu 37 14 70170160 70170160 + Missense_Mutation SNP C C T TCGA-QR-A70O-01A-11D-A35D-08 TCGA-QR-A70O-10A-01D-A35B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4776a3fb-8da7-4565-9c39-9427b044c297 78f8c217-e394-49cf-bf5a-e75c85240160 g.chr14:70170160C>T ENST00000342745.4 + 3 483 c.170C>T c.(169-171)cCc>cTc p.P57L NM_014734.3 NP_055549.1 Q92537 K0247_HUMAN KIAA0247 57 Sushi. integral to membrane endometrium(1)|kidney(1)|lung(4)|ovary(3)|upper_aerodigestive_tract(1) 10 all cancers(60;0.00155)|BRCA - Breast invasive adenocarcinoma(234;0.0164)|OV - Ovarian serous cystadenocarcinoma(108;0.0196) ATCTGCCACCCCCGGCCCTGC 0.567000 18 66 0 0 1 0 0 LEFTY1 10637 broad.mit.edu 37 1 226076584 226076584 + Silent SNP G G A TCGA-QR-A70O-01A-11D-A35D-08 TCGA-QR-A70O-10A-01D-A35B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4776a3fb-8da7-4565-9c39-9427b044c297 78f8c217-e394-49cf-bf5a-e75c85240160 g.chr1:226076584G>A ENST00000272134.5 - 1 262 c.183C>T c.(181-183)taC>taT p.Y61Y RP4-559A3.7_ENST00000432920.2_Intron|LEFTY1_ENST00000492457.1_Intron NM_020997.3 NP_066277.1 O75610 LFTY1_HUMAN left-right determination factor 1 61 cell growth|multicellular organismal development|transforming growth factor beta receptor signaling pathway extracellular space cytokine activity|growth factor activity|transforming growth factor beta receptor binding cervix(1)|endometrium(1)|large_intestine(1)|lung(4)|ovary(1)|skin(1)|upper_aerodigestive_tract(1) 10 Breast(184;0.197) GCAGGGCCACGTACTGGGCCC 0.697000 7 16 0 0 1 0 0 HNRNPH1 3187 broad.mit.edu 37 5 179044053 179044053 + Splice_Site SNP G G A TCGA-QR-A70O-01A-11D-A35D-08 TCGA-QR-A70O-10A-01D-A35B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4776a3fb-8da7-4565-9c39-9427b044c297 78f8c217-e394-49cf-bf5a-e75c85240160 g.chr5:179044053G>A ENST00000356731.5 - 9 2651 c.1117_splice c.e9+1 p.Y372_splice HNRNPH1_ENST00000442819.2_Splice_Site_p.Y372_splice|HNRNPH1_ENST00000329433.6_Splice_Site_p.Y372_splice|HNRNPH1_ENST00000511300.2_Silent_p.Y102Y|HNRNPH1_ENST00000510411.1_Silent_p.Y372Y|HNRNPH1_ENST00000393432.4_Splice_Site_p.Y372_splice P31943 HNRH1_HUMAN heterogeneous nuclear ribonucleoprotein H1 (H) 372 2 X 16 AA Gly-rich approximate repeats.|2 X 19 AA perfect repeats. regulation of RNA splicing actin cytoskeleton|catalytic step 2 spliceosome|cytoplasm|heterogeneous nuclear ribonucleoprotein complex|nucleoplasm nucleotide binding|poly(U) RNA binding|protein binding breast(1)|cervix(1)|endometrium(2)|kidney(3)|large_intestine(2)|lung(4)|skin(1) 14 TTTGGCTACCGTAAGCACCAC 0.373000 4 101 0 0 1 0 0 CEACAM5 1048 broad.mit.edu 37 19 42213811 42213811 + Missense_Mutation SNP C C T TCGA-QR-A70O-01A-11D-A35D-08 TCGA-QR-A70O-10A-01D-A35B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4776a3fb-8da7-4565-9c39-9427b044c297 78f8c217-e394-49cf-bf5a-e75c85240160 g.chr19:42213811C>T ENST00000221992.6 + 2 391 c.277C>T c.(277-279)Ccc>Tcc p.P93S CEACAM5_ENST00000405816.1_Missense_Mutation_p.P93S|CEA_ENST00000598976.1_Missense_Mutation_p.P93S|CEACAM5_ENST00000398599.4_Missense_Mutation_p.P93S NM_004363.2 NP_004354.2 P06731 CEAM5_HUMAN carcinoembryonic antigen-related cell adhesion molecule 5 93 Ig-like 1. anchored to membrane|basolateral plasma membrane|integral to plasma membrane breast(1)|endometrium(3)|kidney(5)|large_intestine(4)|lung(10)|ovary(2)|skin(7)|stomach(1)|urinary_tract(1) 34 OV - Ovarian serous cystadenocarcinoma(3;0.00278)|all cancers(3;0.00625)|Epithelial(262;0.0379)|GBM - Glioblastoma multiforme(1328;0.142) TACCCCAGGGCCCGCATACAG 0.458000 114 115 0 0 1 0 0 SULT6B1 391365 broad.mit.edu 37 2 37406671 37406671 + Missense_Mutation SNP G G T TCGA-QR-A70O-01A-11D-A35D-08 TCGA-QR-A70O-10A-01D-A35B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4776a3fb-8da7-4565-9c39-9427b044c297 78f8c217-e394-49cf-bf5a-e75c85240160 g.chr2:37406671G>T ENST00000535679.1 - 4 458 c.459C>A c.(457-459)caC>caA p.H153Q SULT6B1_ENST00000407963.1_Missense_Mutation_p.H115Q|SULT6B1_ENST00000260637.3_Missense_Mutation_p.H115Q|SULT6B1_ENST00000379149.2_Intron Q6IMI4 ST6B1_HUMAN sulfotransferase family, cytosolic, 6B, member 1 153 cytoplasm sulfotransferase activity NS(1)|breast(1)|central_nervous_system(1)|large_intestine(3)|lung(5)|ovary(1) 12 all_hematologic(82;0.248) GGACATCGTTGTGGAAATGCA 0.363000 41 63 6.68952e-21 7.50532e-21 1 1 0 OR2A2 442361 broad.mit.edu 37 7 143807200 143807200 + Missense_Mutation SNP C C A TCGA-QR-A70O-01A-11D-A35D-08 TCGA-QR-A70O-10A-01D-A35B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4776a3fb-8da7-4565-9c39-9427b044c297 78f8c217-e394-49cf-bf5a-e75c85240160 g.chr7:143807200C>A ENST00000408979.2 + 1 594 c.525C>A c.(523-525)caC>caA p.H175Q NM_001005480.2 NP_001005480.2 Q6IF42 OR2A2_HUMAN olfactory receptor, family 2, subfamily A, member 2 175 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity endometrium(1)|kidney(1)|large_intestine(2)|lung(13)|prostate(1)|skin(4) 22 Melanoma(164;0.0783) ATGTGAACCACCTCTTCTGTG 0.522000 29 105 9.39395e-14 1.02886e-13 1 1 0 CAPG 822 broad.mit.edu 37 2 85628999 85628999 + Silent SNP C C T TCGA-QR-A70O-01A-11D-A35D-08 TCGA-QR-A70O-10A-01D-A35B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4776a3fb-8da7-4565-9c39-9427b044c297 78f8c217-e394-49cf-bf5a-e75c85240160 g.chr2:85628999C>T ENST00000263867.4 - 3 354 c.105G>A c.(103-105)gcG>gcA p.A35A CAPG_ENST00000409921.1_Silent_p.A35A|CAPG_ENST00000409724.1_Silent_p.A35A|CAPG_ENST00000409670.1_Silent_p.A35A NM_001256140.1|NM_001747.3 NP_001243069.1|NP_001738.2 P40121 CAPG_HUMAN capping protein (actin filament), gelsolin-like 35 barbed-end actin filament capping|protein complex assembly F-actin capping protein complex|melanosome|nuclear membrane|nucleolus actin binding endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(6) 11 GGTTCTCTTGCGCCACAGGCA 0.597000 4 129 0 0 1 0 0 CYP2B7P 1556 broad.mit.edu 37 19 41447337 41447337 + RNA SNP C C T TCGA-QR-A70O-01A-11D-A35D-08 TCGA-QR-A70O-10A-01D-A35B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4776a3fb-8da7-4565-9c39-9427b044c297 78f8c217-e394-49cf-bf5a-e75c85240160 g.chr19:41447337C>T ENST00000599198.1 + 0 836 NR_001278.1 NS(1)|endometrium(6)|kidney(1)|lung(2)|ovary(1)|skin(1) 12 CCCAGCGCCCCCAGGGACCTC 0.557000 48 112 0 0 1 0 0 ZNF773 374928 broad.mit.edu 37 19 58018415 58018415 + Missense_Mutation SNP C C G TCGA-QR-A70O-01A-11D-A35D-08 TCGA-QR-A70O-10A-01D-A35B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4776a3fb-8da7-4565-9c39-9427b044c297 78f8c217-e394-49cf-bf5a-e75c85240160 g.chr19:58018415C>G ENST00000282292.4 + 4 1092 c.952C>G c.(952-954)Ctc>Gtc p.L318V ZNF773_ENST00000593916.1_Intron|ZNF773_ENST00000599847.1_Intron|ZNF773_ENST00000598770.1_Missense_Mutation_p.L317V NM_198542.1 NP_940944.1 Q6PK81 ZN773_HUMAN zinc finger protein 773 318 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding breast(1)|endometrium(4)|kidney(2)|large_intestine(5)|lung(6)|ovary(1)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1) 22 Colorectal(82;0.000256)|all_neural(62;0.0577)|Ovarian(87;0.221) UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0254) CAACTCCAGCCTCATGAAACA 0.423000 15 144 0 0 1 0 0 FAM47C 442444 broad.mit.edu 37 X 37026997 37026997 + Missense_Mutation SNP A A C TCGA-QR-A70O-01A-11D-A35D-08 TCGA-QR-A70O-10A-01D-A35B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4776a3fb-8da7-4565-9c39-9427b044c297 78f8c217-e394-49cf-bf5a-e75c85240160 g.chrX:37026997A>C ENST00000358047.3 + 1 566 c.514A>C c.(514-516)Act>Cct p.T172P NM_001013736.2 NP_001013758.1 Q5HY64 FA47C_HUMAN family with sequence similarity 47, member C 172 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 GGAGAAGACAACTGACGAACC 0.597000 5 30 0 0 1 0 0 WASH3P 374666 broad.mit.edu 37 15 102516473 102516473 + RNA SNP G G A TCGA-QR-A70O-01A-11D-A35D-08 TCGA-QR-A70O-10A-01D-A35B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4776a3fb-8da7-4565-9c39-9427b044c297 78f8c217-e394-49cf-bf5a-e75c85240160 g.chr15:102516473G>A ENST00000557932.1 + 0 1421 central_nervous_system(1)|endometrium(6)|kidney(11)|prostate(5)|stomach(1)|urinary_tract(1) 25 ATCCTAGGGGGCTCCATGACA 0.642000 5 68 0 0 1 0 0 PRR12 57479 broad.mit.edu 37 19 50102938 50102938 + Missense_Mutation SNP G G A TCGA-QR-A70O-01A-11D-A35D-08 TCGA-QR-A70O-10A-01D-A35B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4776a3fb-8da7-4565-9c39-9427b044c297 78f8c217-e394-49cf-bf5a-e75c85240160 g.chr19:50102938G>A ENST00000418929.2 + 5 4100 c.4088G>A c.(4087-4089)tGc>tAc p.C1363Y NM_020719.1 NP_065770.1 Q9ULL5 PRR12_HUMAN proline rich 12 542 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) CCTTCACCCTGCAAGCGGCTT 0.642000 3 20 0 0 1 0 0 PPP1R17 10842 broad.mit.edu 37 7 31736577 31736577 + Splice_Site SNP A A T TCGA-QR-A70O-01A-11D-A35D-08 TCGA-QR-A70O-10A-01D-A35B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4776a3fb-8da7-4565-9c39-9427b044c297 78f8c217-e394-49cf-bf5a-e75c85240160 g.chr7:31736577A>T ENST00000342032.3 + 4 863 c.e4-1 PPP1R17_ENST00000498609.1_Splice_Site|PPP1R17_ENST00000409146.3_Splice_Site NM_006658.4 NP_006649.2 O96001 GSUB_HUMAN protein phosphatase 1, regulatory subunit 17 behavior|central nervous system development|intracellular protein kinase cascade|protein phosphorylation soluble fraction CTAACCATGCAGGTGTGTTTT 0.373000 21 35 0 0 1 0 0 ANKRD36C 400986 broad.mit.edu 37 2 96593000 96593000 + Missense_Mutation SNP A A G rs111976783 TCGA-QR-A70O-01A-11D-A35D-08 TCGA-QR-A70O-10A-01D-A35B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4776a3fb-8da7-4565-9c39-9427b044c297 78f8c217-e394-49cf-bf5a-e75c85240160 g.chr2:96593000A>G ENST00000456556.1 - 28 1985 c.1901T>C c.(1900-1902)aTa>aCa p.I634T ankyrin repeat domain 36C p.I634T(1) breast(1)|endometrium(8)|kidney(5)|lung(4) 18 TTCTGTGGCTATATTTGAAAC 0.338000 4 71 0 0 1 0 0 PSG11 5680 broad.mit.edu 37 19 43528993 43528993 + Missense_Mutation SNP C C T TCGA-QR-A70O-01A-11D-A35D-08 TCGA-QR-A70O-10A-01D-A35B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4776a3fb-8da7-4565-9c39-9427b044c297 78f8c217-e394-49cf-bf5a-e75c85240160 g.chr19:43528993C>T ENST00000401740.1 - 2 383 c.280G>A c.(280-282)Gca>Aca p.A94T PSG11_ENST00000403486.1_Intron|PSG11_ENST00000320078.7_Missense_Mutation_p.A94T|PSG11_ENST00000306322.7_Intron Q9UQ72 PSG11_HUMAN pregnancy specific beta-1-glycoprotein 11 94 Ig-like V-type. female pregnancy extracellular region breast(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(15)|prostate(2)|stomach(1)|upper_aerodigestive_tract(1) 26 Prostate(69;0.00682) CCACTGTATGCCGGTCCATAT 0.443000 5 287 0 0 1 0 0 SLC27A4 10999 broad.mit.edu 37 9 131118065 131118065 + Silent SNP G G A TCGA-QR-A70O-01A-11D-A35D-08 TCGA-QR-A70O-10A-01D-A35B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4776a3fb-8da7-4565-9c39-9427b044c297 78f8c217-e394-49cf-bf5a-e75c85240160 g.chr9:131118065G>A ENST00000300456.3 + 12 1881 c.1764G>A c.(1762-1764)ctG>ctA p.L588L SLC27A4_ENST00000372870.1_Silent_p.L182L NM_005094.3 NP_005085.2 Q6P1M0 S27A4_HUMAN solute carrier family 27 (fatty acid transporter), member 4 588 long-chain fatty acid transport|transmembrane transport integral to membrane fatty acid transporter activity|nucleotide binding|protein binding autonomic_ganglia(1)|kidney(1)|large_intestine(1)|lung(7)|ovary(1)|prostate(2) 13 TGCCTGAGCTGCACAAAACAG 0.612000 4 93 0 0 1 0 0 TIMELESS 8914 broad.mit.edu 37 12 56822781 56822781 + Missense_Mutation SNP C C A TCGA-QR-A70O-01A-11D-A35D-08 TCGA-QR-A70O-10A-01D-A35B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4776a3fb-8da7-4565-9c39-9427b044c297 78f8c217-e394-49cf-bf5a-e75c85240160 g.chr12:56822781C>A ENST00000229201.4 - 11 1341 c.1187G>T c.(1186-1188)gGc>gTc p.G396V TIMELESS_ENST00000554616.1_Intron|TIMELESS_ENST00000553532.1_Missense_Mutation_p.G397V NM_003920.3 NP_003911.2 Q9UNS1 TIM_HUMAN timeless circadian clock 397 cell division|circadian rhythm|detection of abiotic stimulus|mitosis|morphogenesis of an epithelium|negative regulation of transcription, DNA-dependent|regulation of S phase|response to DNA damage stimulus|transcription, DNA-dependent nuclear chromatin NS(1)|breast(2)|cervix(3)|endometrium(3)|kidney(3)|large_intestine(8)|lung(14)|ovary(7)|pancreas(2)|prostate(3)|skin(1)|stomach(1)|urinary_tract(1) 49 AGAAACCAGGCCTGGCCGGAA 0.537000 27 25 4.22769e-11 4.52265e-11 1 1 0 BCRP7 100133163 broad.mit.edu 37 22 18844704 18844704 + RNA SNP T T C TCGA-QR-A70O-01A-11D-A35D-08 TCGA-QR-A70O-10A-01D-A35B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4776a3fb-8da7-4565-9c39-9427b044c297 78f8c217-e394-49cf-bf5a-e75c85240160 g.chr22:18844704T>C ENST00000412938.1 + 0 2954 TGGGTTAAAATTCCGACCATG 0.562000 3 4 0 0 1 0 0 ANKRD36C 400986 broad.mit.edu 37 2 96593025 96593025 + Missense_Mutation SNP C C T rs75189823 by1000genomes TCGA-QR-A70O-01A-11D-A35D-08 TCGA-QR-A70O-10A-01D-A35B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4776a3fb-8da7-4565-9c39-9427b044c297 78f8c217-e394-49cf-bf5a-e75c85240160 g.chr2:96593025C>T ENST00000456556.1 - 28 1960 c.1876G>A c.(1876-1878)Gat>Aat p.D626N ankyrin repeat domain 36C p.D626N(1) breast(1)|endometrium(8)|kidney(5)|lung(4) 18 TCTTTCTCATCACTTGTAGCC 0.318000 4 61 0 0 1 0 0 CMYA5 202333 broad.mit.edu 37 5 79031172 79031172 + Missense_Mutation SNP A A G TCGA-QR-A70O-01A-11D-A35D-08 TCGA-QR-A70O-10A-01D-A35B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4776a3fb-8da7-4565-9c39-9427b044c297 78f8c217-e394-49cf-bf5a-e75c85240160 g.chr5:79031172A>G ENST00000446378.2 + 2 6615 c.6584A>G c.(6583-6585)aAa>aGa p.K2195R NM_153610.3 NP_705838.3 Q8N3K9 CMYA5_HUMAN cardiomyopathy associated 5 2195 perinuclear region of cytoplasm NS(2)|breast(4)|central_nervous_system(1)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(4)|kidney(4)|large_intestine(37)|lung(34)|ovary(6)|pancreas(2)|prostate(5)|skin(5)|stomach(11)|upper_aerodigestive_tract(3)|urinary_tract(1) 128 Lung NSC(167;0.00296)|all_lung(232;0.00327)|Ovarian(174;0.0262) OV - Ovarian serous cystadenocarcinoma(54;9.85e-46)|Epithelial(54;3.38e-40)|all cancers(79;3.43e-35) CCAGATAACAAAGTTGCTGAA 0.418000 5 80 0 0 1 0 0 POM121L9P 29774 broad.mit.edu 37 22 24659578 24659578 + RNA SNP A A G TCGA-QR-A70O-01A-11D-A35D-08 TCGA-QR-A70O-10A-01D-A35B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4776a3fb-8da7-4565-9c39-9427b044c297 78f8c217-e394-49cf-bf5a-e75c85240160 g.chr22:24659578A>G ENST00000414583.2 + 0 3103 NR_003714.1 TGCGCAGGCCAACACTCACTG 0.617000 3 10 0 0 1 0 0 PRKAA2 5563 broad.mit.edu 37 1 57111088 57111089 + Frame_Shift_Ins INS - - G TCGA-QR-A70O-01A-11D-A35D-08 TCGA-QR-A70O-10A-01D-A35B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4776a3fb-8da7-4565-9c39-9427b044c297 78f8c217-e394-49cf-bf5a-e75c85240160 g.chr1:57111088_57111089insG ENST00000371244.4 + 1 94_95 c.28_29insG c.(28-30)ggtfs p.G10fs NM_006252.3 NP_006243.2 P54646 AAPK2_HUMAN protein kinase, AMP-activated, alpha 2 catalytic subunit 10 carnitine shuttle|cell cycle arrest|cholesterol biosynthetic process|energy reserve metabolic process|fatty acid biosynthetic process|insulin receptor signaling pathway|regulation of fatty acid biosynthetic process|regulation of fatty acid oxidation cytosol|nucleoplasm ATP binding|metal ion binding breast(6)|endometrium(1)|large_intestine(6)|lung(7)|ovary(1)|prostate(1)|stomach(1) 23 GCACGACGGGCGGGTGAAGATC 0.703 2 4 --- --- --- --- RP11-242J7.1 0 broad.mit.edu 37 4 185536410 185536413 + RNA DEL TTTG TTTG - rs146473442 TCGA-QR-A70O-01A-11D-A35D-08 TCGA-QR-A70O-10A-01D-A35B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4776a3fb-8da7-4565-9c39-9427b044c297 78f8c217-e394-49cf-bf5a-e75c85240160 g.chr4:185536410_185536413delTTTG ENST00000522554.1 - 0 292 CAAAGCCGATtttgtttgtttgtt 0.451 5 3 --- --- --- --- TRBV5-6 28609 broad.mit.edu 37 7 142131738 142131739 + RNA INS - - A TCGA-QR-A70O-01A-11D-A35D-08 TCGA-QR-A70O-10A-01D-A35B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4776a3fb-8da7-4565-9c39-9427b044c297 78f8c217-e394-49cf-bf5a-e75c85240160 g.chr7:142131738_142131739insA ENST00000390375.2 - 0 90 ATGAGCACAGGGACAGCCTGGA 0.579 8 63 --- --- --- --- CREB3 10488 broad.mit.edu 37 9 35736088 35736089 + Frame_Shift_Del DEL GA GA - TCGA-QR-A70O-01A-11D-A35D-08 TCGA-QR-A70O-10A-01D-A35B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4776a3fb-8da7-4565-9c39-9427b044c297 78f8c217-e394-49cf-bf5a-e75c85240160 g.chr9:35736088_35736089delGA ENST00000353704.2 + 7 1093_1094 c.655_656delGA c.(655-657)gfs p.E219fs CREB3_ENST00000486056.1_3'UTR NM_006368.4 NP_006359.3 O43889 CREB3_HUMAN cAMP responsive element binding protein 3 243 Leucine-zipper. chemotaxis|induction of positive chemotaxis|interspecies interaction between organisms|negative regulation of cell cycle|positive regulation of calcium ion transport|positive regulation of cell migration|positive regulation of transcription, DNA-dependent|reactivation of latent virus|regulation of cell proliferation cytosol|endoplasmic reticulum|endoplasmic reticulum membrane|Golgi apparatus|integral to membrane|nucleus cAMP response element binding protein binding|CCR1 chemokine receptor binding|DNA binding|protein dimerization activity|protein homodimerization activity|sequence-specific DNA binding transcription factor activity endometrium(1)|kidney(2)|large_intestine(3)|lung(2)|urinary_tract(1) 9 all_epithelial(49;0.167) Lung(28;0.00276)|LUSC - Lung squamous cell carcinoma(32;0.00418)|STAD - Stomach adenocarcinoma(86;0.194) GBM - Glioblastoma multiforme(74;0.0285) CATGGTGATTGAGATATCAAAC 0.520 OREG0019176 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 66 84 --- --- --- --- WDR73 84942 broad.mit.edu 37 15 85186877 85186894 + In_Frame_Del DEL CTTGGCTCCGTGTTCCAT CTTGGCTCCGTGTTCCAT - rs143462247 TCGA-QR-A70O-01A-11D-A35D-08 TCGA-QR-A70O-10A-01D-A35B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4776a3fb-8da7-4565-9c39-9427b044c297 78f8c217-e394-49cf-bf5a-e75c85240160 g.chr15:85186877_85186894delCTTGGCTCCGTGTTCCAT ENST00000434634.2 - 8 1004_1021 c.944_961delATGGAACACGGAGCCAAG c.(943-963)gta>g p.DGTRSQV315del WDR73_ENST00000398528.3_5'UTR NM_032856.2 NP_116245.2 Q6P4I2 WDR73_HUMAN WD repeat domain 73 315 cervix(1)|large_intestine(1)|lung(1) 3 AGAGGTTCTACTTGGCTCCGTGTTCCATCTTGGCTCCG 0.509 6 9 --- --- --- --- BAGE2 85319 broad.mit.edu 37 21 11085531 11085533 + RNA DEL AAA AAA - TCGA-QR-A70O-01A-11D-A35D-08 TCGA-QR-A70O-10A-01D-A35B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4776a3fb-8da7-4565-9c39-9427b044c297 78f8c217-e394-49cf-bf5a-e75c85240160 g.chr21:11085531_11085533delAAA ENST00000470054.1 - 0 324 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) caccaccactaaaaccacgacca 0.596 4 4 --- --- --- ---