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 CNTLN 54875 broad.mit.edu 37 9 17416086 17416086 + Missense_Mutation SNP G G A TCGA-3A-A9IO-01A-11D-A38G-08 TCGA-3A-A9IO-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0f03781a-d0e8-412d-b9b4-cfe3a5200e63 15ef34ec-aff2-4c0d-a8cf-9d725d670cab g.chr9:17416086G>A ENST00000380647.3 + 18 3097 c.3013G>A c.(3013-3015)Gca>Aca p.A1005T CNTLN_ENST00000262360.5_Missense_Mutation_p.A1005T|CNTLN_ENST00000425824.1_Missense_Mutation_p.A1005T Q9NXG0 CNTLN_HUMAN centlein, centrosomal protein 1005 centriole|membrane two-component sensor activity breast(6)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(5)|kidney(3)|large_intestine(10)|lung(17)|ovary(1)|pancreas(1)|prostate(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 53 GBM - Glioblastoma multiforme(50;6.14e-10) CAAGAAAACAGCAGAATTGTC 0.348000 101 224 0 0 1 0 0 RP11-423O2.5 0 broad.mit.edu 37 1 142803586 142803586 + RNA SNP A A T TCGA-3A-A9IO-01A-11D-A38G-08 TCGA-3A-A9IO-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0f03781a-d0e8-412d-b9b4-cfe3a5200e63 15ef34ec-aff2-4c0d-a8cf-9d725d670cab g.chr1:142803586A>T ENST00000423385.1 - 0 1379 GATTTAAAAAATTATGTTAAC 0.274000 12 691 0 0 1 0 0 PTH2 113091 broad.mit.edu 37 19 49926533 49926533 + Missense_Mutation SNP G G C TCGA-3A-A9IO-01A-11D-A38G-08 TCGA-3A-A9IO-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0f03781a-d0e8-412d-b9b4-cfe3a5200e63 15ef34ec-aff2-4c0d-a8cf-9d725d670cab g.chr19:49926533G>C ENST00000270631.1 - 1 165 c.64C>G c.(64-66)Ctg>Gtg p.L22V NM_178449.3 NP_848544.1 Q96A98 TIP39_HUMAN parathyroid hormone 2 22 neuropeptide signaling pathway extracellular region p.L22V(2) endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|skin(1) 6 OV - Ovarian serous cystadenocarcinoma(262;0.0015)|GBM - Glioblastoma multiforme(486;0.044)|Lung(386;0.0785)|LUSC - Lung squamous cell carcinoma(496;0.0836) GGCACCACcagcagcagcagc 0.692000 3 58 0 0 1 0 0 AGAP7 653268 broad.mit.edu 37 10 51465226 51465226 + Silent SNP T T G rs1047416 TCGA-3A-A9IO-01A-11D-A38G-08 TCGA-3A-A9IO-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0f03781a-d0e8-412d-b9b4-cfe3a5200e63 15ef34ec-aff2-4c0d-a8cf-9d725d670cab g.chr10:51465226T>G ENST00000374095.5 - 7 1355 c.1230A>C c.(1228-1230)gcA>gcC p.A410A NM_001077685.1 NP_001071153.1 Q5VUJ5 AGAP7_HUMAN ArfGAP with GTPase domain, ankyrin repeat and PH domain 7 410 PH. regulation of ARF GTPase activity ARF GTPase activator activity|zinc ion binding kidney(1)|large_intestine(1)|lung(7)|ovary(1)|skin(1) 11 CTTGGACCCATGCATCCCGCT 0.542000 8 768 0 0 1 0 0 ZNF778 197320 broad.mit.edu 37 16 89294760 89294760 + Silent SNP G G A TCGA-3A-A9IO-01A-11D-A38G-08 TCGA-3A-A9IO-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0f03781a-d0e8-412d-b9b4-cfe3a5200e63 15ef34ec-aff2-4c0d-a8cf-9d725d670cab g.chr16:89294760G>A ENST00000433976.2 + 6 2312 c.1980G>A c.(1978-1980)ctG>ctA p.L660L ZNF778_ENST00000306502.6_Silent_p.L618L|RP11-46C24.6_ENST00000563182.1_RNA NM_001201407.1|NM_182531.3 NP_001188336.1|NP_872337.2 Q96MU6 ZN778_HUMAN zinc finger protein 778 660 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding endometrium(4)|kidney(1)|large_intestine(4)|lung(11)|prostate(2)|skin(2) 24 BRCA - Breast invasive adenocarcinoma(80;0.0269) CCTCTCACCTGCATAAACATG 0.413000 4 130 0 0 1 0 0 MIR329-1 0 broad.mit.edu 37 14 101493161 101493161 + RNA SNP A A T TCGA-3A-A9IO-01A-11D-A38G-08 TCGA-3A-A9IO-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0f03781a-d0e8-412d-b9b4-cfe3a5200e63 15ef34ec-aff2-4c0d-a8cf-9d725d670cab g.chr14:101493161A>T ENST00000385028.1 + 0 40 NR_029967.1 TGTTTCTTTAATGAGGACGAA 0.468000 9 1085 0 0 1 0 0 FRG1 2483 broad.mit.edu 37 4 190874240 190874240 + Missense_Mutation SNP C C G TCGA-3A-A9IO-01A-11D-A38G-08 TCGA-3A-A9IO-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0f03781a-d0e8-412d-b9b4-cfe3a5200e63 15ef34ec-aff2-4c0d-a8cf-9d725d670cab g.chr4:190874240C>G ENST00000226798.4 + 4 499 c.277C>G c.(277-279)Cct>Gct p.P93A FRG1_ENST00000514482.1_3'UTR NM_004477.2 NP_004468.1 Q14331 FRG1_HUMAN FSHD region gene 1 93 rRNA processing Cajal body|catalytic step 2 spliceosome|nuclear speck|nucleolus NS(2)|breast(1)|central_nervous_system(1)|endometrium(2)|lung(11)|ovary(1)|pancreas(1)|prostate(5)|skin(7)|urinary_tract(1) 32 all_cancers(14;1.44e-58)|all_epithelial(14;6.32e-41)|all_lung(41;8.13e-17)|Lung NSC(41;2.13e-16)|Breast(6;2.54e-06)|Melanoma(20;0.000263)|Hepatocellular(41;0.00213)|Renal(120;0.0183)|all_hematologic(60;0.0358)|Prostate(90;0.0421)|all_neural(102;0.147) all cancers(3;1.73e-30)|Epithelial(3;5.85e-30)|OV - Ovarian serous cystadenocarcinoma(60;5.56e-15)|BRCA - Breast invasive adenocarcinoma(30;9.14e-06)|Lung(3;3.54e-05)|STAD - Stomach adenocarcinoma(60;8.83e-05)|LUSC - Lung squamous cell carcinoma(40;0.000198)|GBM - Glioblastoma multiforme(59;0.00892)|READ - Rectum adenocarcinoma(43;0.161) GGGCCCTAGTCCTCCAGAGCA 0.284000 5 195 0 0 1 0 0 BRWD1 54014 broad.mit.edu 37 21 40578075 40578075 + Silent SNP C C T TCGA-3A-A9IO-01A-11D-A38G-08 TCGA-3A-A9IO-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0f03781a-d0e8-412d-b9b4-cfe3a5200e63 15ef34ec-aff2-4c0d-a8cf-9d725d670cab g.chr21:40578075C>T ENST00000342449.3 - 37 4401 c.4323G>A c.(4321-4323)cgG>cgA p.R1441R BRWD1_ENST00000380800.3_Silent_p.R1441R|BRWD1_ENST00000333229.2_Silent_p.R1441R NM_033656.3 NP_387505.1 Q9NSI6 BRWD1_HUMAN bromodomain and WD repeat domain containing 1 1441 regulation of transcription, DNA-dependent|transcription, DNA-dependent cytoplasm|nucleus cervix(2)|endometrium(6)|kidney(8)|large_intestine(14)|liver(2)|lung(13)|ovary(1)|pancreas(1)|prostate(2)|skin(7)|urinary_tract(2) 58 Prostate(19;8.44e-08)|all_epithelial(19;0.223) TACAATTTTGCCGTTGCTTGA 0.333000 7 830 0 0 1 0 0 ABHD6 57406 broad.mit.edu 37 3 58242348 58242348 + Missense_Mutation SNP C C T TCGA-3A-A9IO-01A-11D-A38G-08 TCGA-3A-A9IO-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0f03781a-d0e8-412d-b9b4-cfe3a5200e63 15ef34ec-aff2-4c0d-a8cf-9d725d670cab g.chr3:58242348C>T ENST00000478253.1 + 3 536 c.35C>T c.(34-36)gCg>gTg p.A12V ABHD6_ENST00000295962.4_Missense_Mutation_p.A12V Q9BV23 ABHD6_HUMAN abhydrolase domain containing 6 12 integral to membrane acylglycerol lipase activity NS(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(5)|ovary(2)|prostate(1)|skin(1) 16 BRCA - Breast invasive adenocarcinoma(55;0.000225)|KIRC - Kidney renal clear cell carcinoma(284;0.0471)|Kidney(284;0.0589)|OV - Ovarian serous cystadenocarcinoma(275;0.209) TTTGTGATTGCGGGCGGCACG 0.463000 5 286 0 0 1 0 0 PPP1R13B 23368 broad.mit.edu 37 14 104205286 104205286 + Silent SNP C C T TCGA-3A-A9IO-01A-11D-A38G-08 TCGA-3A-A9IO-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0f03781a-d0e8-412d-b9b4-cfe3a5200e63 15ef34ec-aff2-4c0d-a8cf-9d725d670cab g.chr14:104205286C>T ENST00000202556.9 - 13 2949 c.2667G>A c.(2665-2667)ctG>ctA p.L889L PPP1R13B_ENST00000423488.2_Silent_p.L308L|PPP1R13B_ENST00000555391.1_5'UTR NM_015316.2 NP_056131.2 Q96KQ4 ASPP1_HUMAN protein phosphatase 1, regulatory subunit 13B 889 apoptosis|induction of apoptosis|negative regulation of cell cycle cytoplasm|nucleus|plasma membrane protein binding endometrium(6)|kidney(2)|large_intestine(7)|lung(16)|ovary(1)|upper_aerodigestive_tract(1) 33 all_cancers(154;0.173)|all_epithelial(191;0.131)|Melanoma(154;0.155) GGAGCAGTGCCAGGGGGTTAA 0.602000 9 565 0 0 1 0 0 MST1L 0 broad.mit.edu 37 1 17083652 17083652 + RNA SNP C C T rs113710576 by1000genomes TCGA-3A-A9IO-01A-11D-A38G-08 TCGA-3A-A9IO-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0f03781a-d0e8-412d-b9b4-cfe3a5200e63 15ef34ec-aff2-4c0d-a8cf-9d725d670cab g.chr1:17083652C>T ENST00000455405.2 - 0 936 aaatctcaaccttgagtacaa 0.388000 11 212 0 0 1 0 0 ANKRD20A8P 0 broad.mit.edu 37 2 95522815 95522815 + RNA SNP A A G TCGA-3A-A9IO-01A-11D-A38G-08 TCGA-3A-A9IO-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0f03781a-d0e8-412d-b9b4-cfe3a5200e63 15ef34ec-aff2-4c0d-a8cf-9d725d670cab g.chr2:95522815A>G ENST00000432432.2 - 0 212 NR_040113.1 ATCTTCTGCAATTCGGAGTCC 0.652000 8 282 0 0 1 0 0 ANKRD20A8P 0 broad.mit.edu 37 2 95522772 95522772 + RNA SNP T T C TCGA-3A-A9IO-01A-11D-A38G-08 TCGA-3A-A9IO-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0f03781a-d0e8-412d-b9b4-cfe3a5200e63 15ef34ec-aff2-4c0d-a8cf-9d725d670cab g.chr2:95522772T>C ENST00000432432.2 - 0 255 NR_040113.1 p.E49G(1) GCGCTCCACCTCCGCGGCGTC 0.682000 9 201 0 0 1 0 0 FRG1B 0 broad.mit.edu 37 20 29628243 29628243 + Missense_Mutation SNP T T C TCGA-3A-A9IO-01A-11D-A38G-08 TCGA-3A-A9IO-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0f03781a-d0e8-412d-b9b4-cfe3a5200e63 15ef34ec-aff2-4c0d-a8cf-9d725d670cab g.chr20:29628243T>C ENST00000278882.3 + 6 625 c.245T>C c.(244-246)tTg>tCg p.L82S FRG1B_ENST00000358464.4_Missense_Mutation_p.L82S|FRG1B_ENST00000439954.2_Missense_Mutation_p.L87S p.L82S(2) endometrium(10)|kidney(21)|lung(3)|pancreas(1)|prostate(9)|urinary_tract(9) 53 ATGGCTTTGTTGGCCTCAAAT 0.363000 11 654 0 0 1 0 0 ASTN1 460 broad.mit.edu 37 1 177133612 177133612 + Silent SNP G G A TCGA-3A-A9IO-01A-11D-A38G-08 TCGA-3A-A9IO-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0f03781a-d0e8-412d-b9b4-cfe3a5200e63 15ef34ec-aff2-4c0d-a8cf-9d725d670cab g.chr1:177133612G>A ENST00000367654.2 - 1 214 c.201C>T c.(199-201)ctC>ctT p.L67L ASTN1_ENST00000367657.3_Silent_p.L67L|ASTN1_ENST00000281881.3_5'UTR|ASTN1_ENST00000361833.2_Silent_p.L67L|ASTN1_ENST00000424564.2_Silent_p.L67L O14525 ASTN1_HUMAN astrotactin 1 67 cell migration|neuron cell-cell adhesion integral to membrane NS(4)|breast(5)|central_nervous_system(2)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(23)|liver(1)|lung(81)|ovary(6)|prostate(5)|skin(10)|urinary_tract(3) 153 GCACCGAGAAGAGGAGCTTGG 0.627000 42 84 0 0 1 0 0 SIX2 10736 broad.mit.edu 37 2 45236176 45236176 + Missense_Mutation SNP C C T TCGA-3A-A9IO-01A-11D-A38G-08 TCGA-3A-A9IO-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0f03781a-d0e8-412d-b9b4-cfe3a5200e63 15ef34ec-aff2-4c0d-a8cf-9d725d670cab g.chr2:45236176C>T ENST00000303077.6 - 1 393 c.74G>A c.(73-75)gGc>gAc p.G25D NM_016932.4 NP_058628.3 Q9NPC8 SIX2_HUMAN SIX homeobox 2 25 nucleus sequence-specific DNA binding transcription factor activity p.G25V(1) endometrium(6)|large_intestine(3)|lung(8)|pancreas(1)|prostate(2)|upper_aerodigestive_tract(2) 22 all_hematologic(82;0.166)|Acute lymphoblastic leukemia(82;0.17) CTCGATGTTGCCGCCCTGCTG 0.682000 4 95 0 0 1 0 0 IMPACT 55364 broad.mit.edu 37 18 22008866 22008866 + Missense_Mutation SNP C C T TCGA-3A-A9IO-01A-11D-A38G-08 TCGA-3A-A9IO-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0f03781a-d0e8-412d-b9b4-cfe3a5200e63 15ef34ec-aff2-4c0d-a8cf-9d725d670cab g.chr18:22008866C>T ENST00000284202.4 + 3 340 c.199C>T c.(199-201)Cca>Tca p.P67S NM_018439.3 NP_060909.1 Q9P2X3 IMPCT_HUMAN impact RWD domain protein 67 RWD. endometrium(1)|large_intestine(3)|lung(9)|skin(1)|upper_aerodigestive_tract(2) 16 all_cancers(21;0.00018)|all_epithelial(16;1.5e-06)|Lung NSC(20;0.0027)|all_lung(20;0.0085)|Colorectal(14;0.0361)|Ovarian(20;0.0991) AGGTACAGCTCCACCTATCTA 0.338000 5 273 0 0 1 0 0 CPSF1 29894 broad.mit.edu 37 8 145620126 145620126 + Nonsense_Mutation SNP G G A TCGA-3A-A9IO-01A-11D-A38G-08 TCGA-3A-A9IO-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0f03781a-d0e8-412d-b9b4-cfe3a5200e63 15ef34ec-aff2-4c0d-a8cf-9d725d670cab g.chr8:145620126G>A ENST00000349769.3 - 30 3479 c.3385C>T c.(3385-3387)Cag>Tag p.Q1129* NM_013291.2 NP_037423.2 Q10570 CPSF1_HUMAN cleavage and polyadenylation specific factor 1, 160kDa 1129 mRNA cleavage|mRNA export from nucleus|mRNA polyadenylation|nuclear mRNA splicing, via spliceosome|termination of RNA polymerase II transcription mRNA cleavage and polyadenylation specificity factor complex mRNA 3'-UTR binding|protein binding NS(1)|autonomic_ganglia(1)|breast(2)|central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(5)|lung(15)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 38 all_cancers(97;6.64e-12)|all_epithelial(106;2.89e-10)|Lung NSC(106;5.7e-05)|all_lung(105;0.000174)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155) OV - Ovarian serous cystadenocarcinoma(54;2.88e-41)|Epithelial(56;1.67e-40)|all cancers(56;1.2e-35)|BRCA - Breast invasive adenocarcinoma(115;0.0323)|Colorectal(110;0.055) TCCTCCCCCTGCATGAGGCAG 0.667000 4 181 0 0 1 0 0 PTCH1 5727 broad.mit.edu 37 9 98242854 98242854 + Missense_Mutation SNP G G A TCGA-3A-A9IO-01A-11D-A38G-08 TCGA-3A-A9IO-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0f03781a-d0e8-412d-b9b4-cfe3a5200e63 15ef34ec-aff2-4c0d-a8cf-9d725d670cab g.chr9:98242854G>A ENST00000430669.2 - 6 1150 c.565C>T c.(565-567)Cgg>Tgg p.R189W PTCH1_ENST00000437951.1_Missense_Mutation_p.R189W|PTCH1_ENST00000331920.6_Missense_Mutation_p.R255W|PTCH1_ENST00000418258.1_Missense_Mutation_p.R104W|PTCH1_ENST00000421141.1_Missense_Mutation_p.R104W|PTCH1_ENST00000548379.1_5'UTR|PTCH1_ENST00000429896.2_Missense_Mutation_p.R104W|PTCH1_ENST00000375274.2_Missense_Mutation_p.R254W Q13635 PTC1_HUMAN patched 1 255 embryonic limb morphogenesis|negative regulation of multicellular organism growth|protein processing|regulation of smoothened signaling pathway|smoothened signaling pathway integral to plasma membrane hedgehog receptor activity NS(8)|bone(33)|breast(10)|central_nervous_system(95)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(8)|kidney(2)|large_intestine(18)|lung(22)|meninges(1)|oesophagus(3)|ovary(6)|prostate(2)|skin(262)|upper_aerodigestive_tract(11)|urinary_tract(2)|vulva(1) 490 Medulloblastoma(1;7.87e-06)|all_neural(1;0.000555)|Acute lymphoblastic leukemia(62;0.136) TTTGTCCACCGCAAAGGAGGT 0.458000 5 344 0 0 1 0 0 PRPF8 10594 broad.mit.edu 37 17 1556843 1556843 + Missense_Mutation SNP C C T TCGA-3A-A9IO-01A-11D-A38G-08 TCGA-3A-A9IO-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0f03781a-d0e8-412d-b9b4-cfe3a5200e63 15ef34ec-aff2-4c0d-a8cf-9d725d670cab g.chr17:1556843C>T ENST00000572621.1 - 38 6627 c.6362G>A c.(6361-6363)cGg>cAg p.R2121Q PRPF8_ENST00000575116.1_5'UTR|PRPF8_ENST00000304992.6_Missense_Mutation_p.R2121Q Q6P2Q9 PRP8_HUMAN pre-mRNA processing factor 8 2121 MPN. catalytic step 2 spliceosome|nuclear speck|U5 snRNP protein binding|RNA binding NS(1)|autonomic_ganglia(1)|breast(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(3)|kidney(8)|large_intestine(13)|lung(24)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(5)|urinary_tract(3) 77 UCEC - Uterine corpus endometrioid carcinoma (25;0.0855) CACTTGGGCCCGAAGGTCAGA 0.463000 4 313 0 0 1 0 0 MYO18B 84700 broad.mit.edu 37 22 26219533 26219533 + Silent SNP C C T TCGA-3A-A9IO-01A-11D-A38G-08 TCGA-3A-A9IO-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0f03781a-d0e8-412d-b9b4-cfe3a5200e63 15ef34ec-aff2-4c0d-a8cf-9d725d670cab g.chr22:26219533C>T ENST00000335473.7 + 13 2833 c.2583C>T c.(2581-2583)tgC>tgT p.C861C MYO18B_ENST00000407587.2_Silent_p.C861C|MYO18B_ENST00000536101.1_Silent_p.C861C NM_032608.5 NP_115997.5 Q8IUG5 MY18B_HUMAN myosin XVIIIB 861 Myosin head-like. nucleus|sarcomere|unconventional myosin complex actin binding|ATP binding|motor activity NS(2)|breast(6)|central_nervous_system(3)|endometrium(12)|haematopoietic_and_lymphoid_tissue(4)|kidney(5)|large_intestine(27)|liver(2)|lung(60)|ovary(7)|prostate(8)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(2) 146 CCCTGGGCTGCGAGTATGAGG 0.582000 6 455 0 0 1 0 0 ANKRD20A8P 0 broad.mit.edu 37 2 95522786 95522786 + RNA SNP T T C TCGA-3A-A9IO-01A-11D-A38G-08 TCGA-3A-A9IO-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0f03781a-d0e8-412d-b9b4-cfe3a5200e63 15ef34ec-aff2-4c0d-a8cf-9d725d670cab g.chr2:95522786T>C ENST00000432432.2 - 0 241 NR_040113.1 p.K44K(1) CGGCGTCGCCTTTGACAGCTG 0.687000 9 238 0 0 1 0 0 TUBB8P7 0 broad.mit.edu 37 16 90162513 90162513 + RNA SNP T T C TCGA-3A-A9IO-01A-11D-A38G-08 TCGA-3A-A9IO-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0f03781a-d0e8-412d-b9b4-cfe3a5200e63 15ef34ec-aff2-4c0d-a8cf-9d725d670cab g.chr16:90162513T>C ENST00000564451.1 + 0 1866 TUBB8P7_ENST00000567960.1_RNA p.N415N(2) GCAACATGAATGACCTGGTGT 0.537000 6 482 0 0 1 0 0 GTPBP6 8225 broad.mit.edu 37 X 224472 224472 + Missense_Mutation SNP G G A TCGA-3A-A9IO-01A-11D-A38G-08 TCGA-3A-A9IO-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0f03781a-d0e8-412d-b9b4-cfe3a5200e63 15ef34ec-aff2-4c0d-a8cf-9d725d670cab g.chrX:224472G>A ENST00000326153.4 - 4 513 c.514C>T c.(514-516)Cgt>Tgt p.R172C O43824 GTPB6_HUMAN GTP binding protein 6 (putative) 401 intracellular GTP binding breast(1)|cervix(1)|endometrium(1)|kidney(1)|lung(3) 7 all_cancers(21;9e-05)|all_epithelial(21;6.22e-06)|all_lung(23;0.000597)|Lung NSC(23;0.00901)|Lung SC(21;0.186) TGCAGGCCACGCAGCGTGGAC 0.677000 3 31 0 0 1 0 0 CROCCP2 0 broad.mit.edu 37 1 16959834 16959834 + RNA SNP G G T rs150284826 by1000genomes TCGA-3A-A9IO-01A-11D-A38G-08 TCGA-3A-A9IO-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0f03781a-d0e8-412d-b9b4-cfe3a5200e63 15ef34ec-aff2-4c0d-a8cf-9d725d670cab g.chr1:16959834G>T ENST00000412962.1 - 0 23 CCCAGCTGCAGCGGGTCCCTT 0.642000 5 44 0.248553 0.251254 1 1 0 EPPK1 83481 broad.mit.edu 37 8 144944616 144944616 + Missense_Mutation SNP G G A TCGA-3A-A9IO-01A-11D-A38G-08 TCGA-3A-A9IO-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0f03781a-d0e8-412d-b9b4-cfe3a5200e63 15ef34ec-aff2-4c0d-a8cf-9d725d670cab g.chr8:144944616G>A ENST00000525985.1 - 2 2877 c.2806C>T c.(2806-2808)Cgg>Tgg p.R936W P58107 EPIPL_HUMAN epiplakin 1 936 cytoplasm|cytoskeleton protein binding|structural molecule activity NS(1)|autonomic_ganglia(1)|breast(1)|central_nervous_system(5)|cervix(1)|endometrium(8)|kidney(4)|large_intestine(2)|lung(30)|ovary(2)|pancreas(1)|prostate(10)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1) 71 all_cancers(97;1.42e-10)|all_epithelial(106;1.99e-09)|Lung NSC(106;0.000126)|all_lung(105;0.000354)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155) OV - Ovarian serous cystadenocarcinoma(54;2.46e-41)|Epithelial(56;2.88e-40)|all cancers(56;1.82e-35)|Colorectal(110;0.055)|BRCA - Breast invasive adenocarcinoma(115;0.105) GGCAGCAGCCGCACACCGCCC 0.711000 5 118 0 0 1 0 0 DCST2 127579 broad.mit.edu 37 1 154996955 154996955 + Missense_Mutation SNP C C T TCGA-3A-A9IO-01A-11D-A38G-08 TCGA-3A-A9IO-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0f03781a-d0e8-412d-b9b4-cfe3a5200e63 15ef34ec-aff2-4c0d-a8cf-9d725d670cab g.chr1:154996955C>T ENST00000368424.3 - 11 1793 c.1735G>A c.(1735-1737)Gcc>Acc p.A579T DCST2_ENST00000295536.5_Missense_Mutation_p.A579T NM_144622.2 NP_653223.2 Q5T1A1 DCST2_HUMAN DC-STAMP domain containing 2 579 integral to membrane breast(1)|central_nervous_system(1)|endometrium(6)|kidney(2)|large_intestine(10)|lung(13)|ovary(3)|prostate(1)|skin(1) 38 all_epithelial(22;2.77e-30)|all_lung(78;4.1e-28)|all_hematologic(923;0.0359)|Hepatocellular(266;0.0877) BRCA - Breast invasive adenocarcinoma(34;0.00034) CACCGACTGGCCAGCACTAGG 0.562000 5 290 0 0 1 0 0 ADCY3 109 broad.mit.edu 37 2 25046089 25046089 + Missense_Mutation SNP C C T TCGA-3A-A9IO-01A-11D-A38G-08 TCGA-3A-A9IO-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0f03781a-d0e8-412d-b9b4-cfe3a5200e63 15ef34ec-aff2-4c0d-a8cf-9d725d670cab g.chr2:25046089C>T ENST00000260600.5 - 17 3723 c.2872G>A c.(2872-2874)Gat>Aat p.D958N ADCY3_ENST00000405392.1_Missense_Mutation_p.D545N NM_004036.3 NP_004027.2 O60266 ADCY3_HUMAN adenylate cyclase 3 958 activation of adenylate cyclase activity by G-protein signaling pathway|activation of phospholipase C activity|activation of protein kinase A activity|cellular response to glucagon stimulus|energy reserve metabolic process|inhibition of adenylate cyclase activity by G-protein signaling pathway|nerve growth factor receptor signaling pathway|sensory perception of smell|synaptic transmission|transmembrane transport|water transport cytoplasm|integral to plasma membrane ATP binding|calmodulin binding|metal ion binding NS(1)|breast(5)|endometrium(7)|kidney(1)|large_intestine(7)|lung(14)|ovary(3)|prostate(4)|skin(2) 44 Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.203) GAGTCAAAATCTGAGATGATT 0.502000 10 107 0 0 1 0 0 ZNF91 7644 broad.mit.edu 37 19 23544783 23544783 + Missense_Mutation SNP C C T rs410211 TCGA-3A-A9IO-01A-11D-A38G-08 TCGA-3A-A9IO-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0f03781a-d0e8-412d-b9b4-cfe3a5200e63 15ef34ec-aff2-4c0d-a8cf-9d725d670cab g.chr19:23544783C>T ENST00000300619.7 - 4 1203 c.998G>A c.(997-999)cGt>cAt p.R333H ZNF91_ENST00000397082.2_Missense_Mutation_p.R301H|ZNF91_ENST00000599743.1_Intron NM_003430.2 NP_003421.2 Q05481 ZNF91_HUMAN zinc finger protein 91 333 R -> H (in Ref. 1; AAA59469). nucleus DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding p.R333H(1) all_lung(12;0.0349)|Lung NSC(12;0.0538)|all_epithelial(12;0.0611) GGTTGAAGAACGGCTAAAAGC 0.393000 6 592 0 0 1 0 0 GOLGA6B 55889 broad.mit.edu 37 15 72954797 72954797 + Missense_Mutation SNP T T C TCGA-3A-A9IO-01A-11D-A38G-08 TCGA-3A-A9IO-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0f03781a-d0e8-412d-b9b4-cfe3a5200e63 15ef34ec-aff2-4c0d-a8cf-9d725d670cab g.chr15:72954797T>C ENST00000421285.3 + 11 1052 c.1052T>C c.(1051-1053)gTg>gCg p.V351A NM_018652.4 NP_061122.4 A6NDN3 GOG6B_HUMAN golgin A6 family, member B 351 p.V351A(4) NS(1)|breast(1)|endometrium(1)|lung(8)|prostate(2)|skin(2)|upper_aerodigestive_tract(1) 16 GAGCAGGAGGTGCAGAGAGTG 0.562000 6 348 0 0 1 0 0 EDEM2 55741 broad.mit.edu 37 20 33722547 33722547 + Silent SNP G G A TCGA-3A-A9IO-01A-11D-A38G-08 TCGA-3A-A9IO-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0f03781a-d0e8-412d-b9b4-cfe3a5200e63 15ef34ec-aff2-4c0d-a8cf-9d725d670cab g.chr20:33722547G>A ENST00000540582.1 - 10 1294 c.573C>T c.(571-573)atC>atT p.I191I EDEM2_ENST00000542871.1_Intron|EDEM2_ENST00000374492.3_Silent_p.I232I|EDEM2_ENST00000374491.2_Silent_p.I195I|EDEM2_ENST00000541621.1_5'UTR Q9BV94 EDEM2_HUMAN ER degradation enhancer, mannosidase alpha-like 2 232 post-translational protein modification|protein folding|protein N-linked glycosylation via asparagine|response to unfolded protein endoplasmic reticulum lumen|endoplasmic reticulum membrane|extracellular region calcium ion binding|mannosyl-oligosaccharide 1,2-alpha-mannosidase activity|misfolded protein binding breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(10)|prostate(1)|stomach(1)|upper_aerodigestive_tract(2) 22 BRCA - Breast invasive adenocarcinoma(18;0.00936) CTACCAGCCCGATATCTGACC 0.562000 18 241 0 0 1 0 0 KMT2D 8085 broad.mit.edu 37 12 49440044 49440044 + Splice_Site SNP G G A TCGA-3A-A9IO-01A-11D-A38G-08 TCGA-3A-A9IO-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0f03781a-d0e8-412d-b9b4-cfe3a5200e63 15ef34ec-aff2-4c0d-a8cf-9d725d670cab g.chr12:49440044G>A ENST00000301067.7 - 16 4581 c.4583_splice c.e16+1 p.R1528_splice NM_003482.3 NP_003473.3 lysine (K)-specific methyltransferase 2D TGTTCTCACCGTTCACAGTGG 0.547000 4 195 0 0 1 0 0 UBB 7314 broad.mit.edu 37 17 16285560 16285560 + Silent SNP T T C TCGA-3A-A9IO-01A-11D-A38G-08 TCGA-3A-A9IO-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0f03781a-d0e8-412d-b9b4-cfe3a5200e63 15ef34ec-aff2-4c0d-a8cf-9d725d670cab g.chr17:16285560T>C ENST00000302182.3 + 2 731 c.339T>C c.(337-339)ccT>ccC p.P113P UBB_ENST00000578649.1_Intron|RP11-138I1.4_ENST00000583934.1_RNA|UBB_ENST00000395837.1_Silent_p.P113P|UBB_ENST00000395839.1_Silent_p.P113P|UBB_ENST00000535788.1_Intron NM_018955.2 NP_061828.1 P0CG47 UBB_HUMAN ubiquitin B 113 Ubiquitin-like 2. activation of MAPK activity|anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|anti-apoptosis|apoptosis|cellular membrane organization|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|DNA repair|endosome transport|epidermal growth factor receptor signaling pathway|G1/S transition of mitotic cell cycle|I-kappaB kinase/NF-kappaB cascade|induction of apoptosis by extracellular signals|innate immune response|JNK cascade|M/G1 transition of mitotic cell cycle|mRNA metabolic process|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|negative regulation of epidermal growth factor receptor signaling pathway|negative regulation of type I interferon production|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|nerve growth factor receptor signaling pathway|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of NF-kappaB transcription factor activity|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|S phase of mitotic cell cycle|stress-activated MAPK cascade|T cell receptor signaling pathway|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway|viral reproduction cytosol|endocytic vesicle membrane|endosome membrane|nucleoplasm|plasma membrane protein binding breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(2)|lung(3)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1) 16 UCEC - Uterine corpus endometrioid carcinoma (92;0.0822) AAGGCATCCCTCCCGACCAGC 0.557000 6 653 0 0 1 0 0 KBTBD6 89890 broad.mit.edu 37 13 41705440 41705440 + Missense_Mutation SNP G G T TCGA-3A-A9IO-01A-11D-A38G-08 TCGA-3A-A9IO-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0f03781a-d0e8-412d-b9b4-cfe3a5200e63 15ef34ec-aff2-4c0d-a8cf-9d725d670cab g.chr13:41705440G>T ENST00000379485.1 - 1 1442 c.1208C>A c.(1207-1209)aCa>aAa p.T403K KBTBD6_ENST00000499385.2_Missense_Mutation_p.T337K NM_152903.4 NP_690867.3 Q86V97 KBTB6_HUMAN kelch repeat and BTB (POZ) domain containing 6 403 protein binding p.T403K(7) NS(1)|breast(1)|endometrium(8)|kidney(4)|large_intestine(9)|lung(9)|ovary(1)|prostate(2)|skin(4)|urinary_tract(4) 43 Lung NSC(96;4.52e-06)|Breast(139;0.00123)|Prostate(109;0.0181)|Lung SC(185;0.0262)|Hepatocellular(98;0.114) all cancers(112;4.08e-09)|Epithelial(112;4.74e-06)|OV - Ovarian serous cystadenocarcinoma(117;0.000131)|GBM - Glioblastoma multiforme(144;0.000876)|BRCA - Breast invasive adenocarcinoma(63;0.0673) CCAGAGGTCTGTCCTGGGCTG 0.507000 6 588 7.03913e-09 7.52458e-09 1 1 0 TRPM2 7226 broad.mit.edu 37 21 45798964 45798964 + Missense_Mutation SNP G G A TCGA-3A-A9IO-01A-11D-A38G-08 TCGA-3A-A9IO-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0f03781a-d0e8-412d-b9b4-cfe3a5200e63 15ef34ec-aff2-4c0d-a8cf-9d725d670cab g.chr21:45798964G>A ENST00000397928.1 + 8 1544 c.1099G>A c.(1099-1101)Gcc>Acc p.A367T TRPM2_ENST00000300482.5_Missense_Mutation_p.A367T|TRPM2_ENST00000300481.9_Missense_Mutation_p.A367T|TRPM2_ENST00000498430.1_3'UTR|TRPM2_ENST00000397932.2_Missense_Mutation_p.A367T NM_003307.3 NP_003298.1 O94759 TRPM2_HUMAN transient receptor potential cation channel, subfamily M, member 2 367 integral to plasma membrane ADP-ribose diphosphatase activity|calcium channel activity|sodium channel activity breast(3)|central_nervous_system(2)|endometrium(4)|kidney(3)|large_intestine(15)|lung(29)|ovary(3)|pancreas(1)|prostate(5)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(1) 76 TGCCCAGGTGGCCAACCTGCC 0.597000 5 273 0 0 1 0 0 RGPD8 727851 broad.mit.edu 37 2 113127775 113127775 + Missense_Mutation SNP G G C TCGA-3A-A9IO-01A-11D-A38G-08 TCGA-3A-A9IO-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0f03781a-d0e8-412d-b9b4-cfe3a5200e63 15ef34ec-aff2-4c0d-a8cf-9d725d670cab 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 5 352 0 0 1 0 0 OR12D2 26529 broad.mit.edu 37 6 29365088 29365088 + Silent SNP T T C rs144790258 by1000genomes TCGA-3A-A9IO-01A-11D-A38G-08 TCGA-3A-A9IO-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0f03781a-d0e8-412d-b9b4-cfe3a5200e63 15ef34ec-aff2-4c0d-a8cf-9d725d670cab g.chr6:29365088T>C ENST00000383555.2 + 1 673 c.612T>C c.(610-612)atT>atC p.I204I OR5V1_ENST00000377154.1_Intron NM_013936.3 NP_039224.2 P58182 O12D2_HUMAN olfactory receptor, family 12, subfamily D, member 2 (gene/pseudogene) 204 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(20)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(2) 31 CGGGGACAATTGCCATGGGCC 0.443000 9 664 0 0 1 0 0 ZNRD1-AS1 0 broad.mit.edu 37 6 29977342 29977342 + RNA SNP A A T rs116382006 by1000genomes TCGA-3A-A9IO-01A-11D-A38G-08 TCGA-3A-A9IO-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0f03781a-d0e8-412d-b9b4-cfe3a5200e63 15ef34ec-aff2-4c0d-a8cf-9d725d670cab g.chr6:29977342A>T ENST00000376797.3 - 0 731 HLA-J_ENST00000462773.1_RNA|ZNRD1-AS1_ENST00000420251.1_RNA|ZNRD1-AS1_ENST00000425604.1_RNA|ZNRD1-AS1_ENST00000448093.1_RNA TGGGACTGAGAGGCAAGATTT 0.438000 12 430 0 0 1 0 0 UBC 7316 broad.mit.edu 37 12 125396503 125396503 + Silent SNP G G A rs6657 TCGA-3A-A9IO-01A-11D-A38G-08 TCGA-3A-A9IO-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0f03781a-d0e8-412d-b9b4-cfe3a5200e63 15ef34ec-aff2-4c0d-a8cf-9d725d670cab g.chr12:125396503G>A ENST00000536769.1 - 1 3391 c.1815C>T c.(1813-1815)ctC>ctT p.L605L UBC_ENST00000339647.5_Silent_p.L605L|UBC_ENST00000538617.1_Silent_p.L225L|UBC_ENST00000546120.1_Silent_p.L529L P0CG48 UBC_HUMAN ubiquitin C 605 Ubiquitin-like 8. activation of MAPK activity|anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|anti-apoptosis|apoptosis|cellular membrane organization|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|DNA repair|endosome transport|epidermal growth factor receptor signaling pathway|G1/S transition of mitotic cell cycle|I-kappaB kinase/NF-kappaB cascade|induction of apoptosis by extracellular signals|innate immune response|JNK cascade|M/G1 transition of mitotic cell cycle|mRNA metabolic process|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|negative regulation of epidermal growth factor receptor signaling pathway|negative regulation of type I interferon production|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|nerve growth factor receptor signaling pathway|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of NF-kappaB transcription factor activity|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|S phase of mitotic cell cycle|stress-activated MAPK cascade|T cell receptor signaling pathway|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway|viral reproduction cytosol|endocytic vesicle membrane|endosome membrane|nucleoplasm|plasma membrane protein binding p.L605L(1) breast(3)|endometrium(4)|kidney(4)|large_intestine(2)|lung(13)|ovary(3)|prostate(4)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 36 all_neural(191;0.101)|Medulloblastoma(191;0.163) OV - Ovarian serous cystadenocarcinoma(86;6.17e-05)|Epithelial(86;0.000207)|all cancers(50;0.00308) TCCCACCTCTGAGACGGAGCA 0.537000 9 714 0 0 1 0 0 XYLT2 64132 broad.mit.edu 37 17 48437468 48437468 + Missense_Mutation SNP G G A TCGA-3A-A9IO-01A-11D-A38G-08 TCGA-3A-A9IO-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0f03781a-d0e8-412d-b9b4-cfe3a5200e63 15ef34ec-aff2-4c0d-a8cf-9d725d670cab g.chr17:48437468G>A ENST00000017003.2 + 11 2463 c.2414G>A c.(2413-2415)gGc>gAc p.G805D XYLT2_ENST00000507602.1_Intron NM_022167.2 NP_071450.2 Q9H1B5 XYLT2_HUMAN xylosyltransferase II 805 glycosaminoglycan biosynthetic process endoplasmic reticulum membrane|Golgi membrane|integral to membrane acetylglucosaminyltransferase activity|protein xylosyltransferase activity endometrium(2)|kidney(2)|large_intestine(4)|pancreas(1)|prostate(2)|urinary_tract(1) 12 Breast(11;7.18e-19) CAGCTCACAGGCCCTGCGCTC 0.657000 5 155 0 0 1 0 0 LRP2BP 55805 broad.mit.edu 37 4 186298198 186298198 + Translation_Start_Site SNP C C T TCGA-3A-A9IO-01A-11D-A38G-08 TCGA-3A-A9IO-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0f03781a-d0e8-412d-b9b4-cfe3a5200e63 15ef34ec-aff2-4c0d-a8cf-9d725d670cab g.chr4:186298198C>T ENST00000510776.1 - 1 1974 c.3G>A c.(1-3)atG>atA p.M1I LRP2BP_ENST00000362004.3_Intron|LRP2BP_ENST00000328559.7_Intron|RP11-714G18.1_ENST00000514884.1_RNA|LRP2BP_ENST00000505916.1_Intron Q9P2M1 LR2BP_HUMAN LRP2 binding protein 0 cytoplasm protein binding breast(1)|endometrium(2)|large_intestine(6)|lung(3)|prostate(1)|skin(2) 15 all_lung(41;1.3e-11)|Lung NSC(41;2.25e-11)|Melanoma(20;0.00109)|Colorectal(36;0.0215)|Renal(120;0.0246)|Hepatocellular(41;0.0268)|Prostate(90;0.0283)|all_hematologic(60;0.0749) all cancers(43;2.14e-25)|Epithelial(43;1.55e-22)|OV - Ovarian serous cystadenocarcinoma(60;1.34e-11)|BRCA - Breast invasive adenocarcinoma(30;8.01e-05)|GBM - Glioblastoma multiforme(59;0.000132)|STAD - Stomach adenocarcinoma(60;0.000766)|Colorectal(24;0.00116)|LUSC - Lung squamous cell carcinoma(40;0.00904)|COAD - Colon adenocarcinoma(29;0.0101)|READ - Rectum adenocarcinoma(43;0.161) TAAGGAATTCCATCAACCACA 0.358000 47 90 0 0 1 0 0 DENND4C 55667 broad.mit.edu 37 9 19316732 19316732 + Missense_Mutation SNP C C T TCGA-3A-A9IO-01A-11D-A38G-08 TCGA-3A-A9IO-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0f03781a-d0e8-412d-b9b4-cfe3a5200e63 15ef34ec-aff2-4c0d-a8cf-9d725d670cab g.chr9:19316732C>T ENST00000380432.2 + 8 1027 c.994C>T c.(994-996)Cgc>Tgc p.R332C DENND4C_ENST00000434457.2_Missense_Mutation_p.R568C|DENND4C_ENST00000602925.1_Missense_Mutation_p.R568C|DENND4C_ENST00000307015.9_5'UTR NM_017925.4 NP_060395.5 Q5VZ89 DEN4C_HUMAN DENN/MADD domain containing 4C 332 dDENN. integral to membrane breast(1)|endometrium(8)|kidney(1)|large_intestine(7)|liver(2)|lung(13)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1) 40 GGCATTTTTGCGCTTTATGGC 0.413000 7 599 0 0 1 0 0 GLI2 2736 broad.mit.edu 37 2 121726395 121726395 + Missense_Mutation SNP G G A TCGA-3A-A9IO-01A-11D-A38G-08 TCGA-3A-A9IO-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0f03781a-d0e8-412d-b9b4-cfe3a5200e63 15ef34ec-aff2-4c0d-a8cf-9d725d670cab g.chr2:121726395G>A ENST00000452319.1 + 6 809 c.749G>A c.(748-750)cGc>cAc p.R250H GLI2_ENST00000361492.4_Missense_Mutation_p.R250H|GLI2_ENST00000314490.11_5'UTR|GLI2_ENST00000435313.2_3'UTR P10070 GLI2_HUMAN GLI family zinc finger 2 250 axon guidance|branching morphogenesis of a tube|cell proliferation|cerebellar cortex morphogenesis|developmental growth|embryonic digestive tract development|epidermal cell differentiation|floor plate formation|heart development|hindgut morphogenesis|kidney development|lung development|negative regulation of transcription from RNA polymerase II promoter|odontogenesis of dentine-containing tooth|osteoblast development|osteoblast differentiation|pituitary gland development|positive regulation of DNA replication|positive regulation of T cell differentiation in thymus|positive regulation of transcription from RNA polymerase II promoter|proximal/distal pattern formation|skeletal system development|smoothened signaling pathway involved in ventral spinal cord interneuron specification|spinal cord ventral commissure morphogenesis nucleus protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding NS(1)|breast(3)|central_nervous_system(4)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(7)|lung(24)|ovary(8)|pancreas(1)|prostate(2)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1) 64 Renal(3;0.0496) Prostate(154;0.0623) CGGATGATCCGCACCTCACCC 0.667000 5 275 0 0 1 0 0 FRG1B 0 broad.mit.edu 37 20 29628245 29628245 + Missense_Mutation SNP G G A TCGA-3A-A9IO-01A-11D-A38G-08 TCGA-3A-A9IO-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0f03781a-d0e8-412d-b9b4-cfe3a5200e63 15ef34ec-aff2-4c0d-a8cf-9d725d670cab g.chr20:29628245G>A ENST00000278882.3 + 6 627 c.247G>A c.(247-249)Gcc>Acc p.A83T FRG1B_ENST00000358464.4_Missense_Mutation_p.A83T|FRG1B_ENST00000439954.2_Missense_Mutation_p.A88T p.A83T(2) endometrium(10)|kidney(21)|lung(3)|pancreas(1)|prostate(9)|urinary_tract(9) 53 GGCTTTGTTGGCCTCAAATAG 0.353000 10 647 0 0 1 0 0 CFTR 1080 broad.mit.edu 37 7 117188877 117188877 + Splice_Site SNP G G T TCGA-3A-A9IO-01A-11D-A38G-08 TCGA-3A-A9IO-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0f03781a-d0e8-412d-b9b4-cfe3a5200e63 15ef34ec-aff2-4c0d-a8cf-9d725d670cab g.chr7:117188877G>T ENST00000003084.6 + 10 1524 c.1392_splice c.e10+1 p.K464_splice CFTR_ENST00000454343.1_Intron NM_000492.3 NP_000483.3 P13569 CFTR_HUMAN cystic fibrosis transmembrane conductance regulator (ATP-binding cassette sub-family C, member 7) 464 ABC transporter 1. respiratory gaseous exchange apical plasma membrane|basolateral plasma membrane|chloride channel complex|early endosome membrane ATP binding|ATP-binding and phosphorylation-dependent chloride channel activity|channel-conductance-controlling ATPase activity|chloride channel regulator activity|enzyme binding|PDZ domain binding NS(1)|breast(2)|central_nervous_system(2)|cervix(1)|endometrium(5)|kidney(6)|large_intestine(15)|lung(22)|ovary(2)|pancreas(1)|prostate(3)|skin(9) 69 Lung NSC(10;0.00148)|all_lung(10;0.00171) STAD - Stomach adenocarcinoma(10;0.000534) Bumetanide(DB00887)|Glibenclamide(DB01016) GAGCAGGCAAGGTAGTTCTTT 0.373000 Cystic Fibrosis 5 199 0.00010058 0.000106295 1 1 0 ETV3L 440695 broad.mit.edu 37 1 157068573 157068573 + Silent SNP C C T TCGA-3A-A9IO-01A-11D-A38G-08 TCGA-3A-A9IO-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0f03781a-d0e8-412d-b9b4-cfe3a5200e63 15ef34ec-aff2-4c0d-a8cf-9d725d670cab g.chr1:157068573C>T ENST00000454449.2 - 3 695 c.411G>A c.(409-411)ccG>ccA p.P137P NM_001004341.2 NP_001004341.1 Q6ZN32 ETV3L_HUMAN ets variant 3-like 137 nucleus sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity breast(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(9)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(2) 24 Hepatocellular(266;0.158) Prostate(1639;0.184) GGGGGGATGGCGGCGCCCGCA 0.592000 6 336 0 0 1 0 0 TICAM2 353376 broad.mit.edu 37 5 114916434 114916434 + Missense_Mutation SNP G G A TCGA-3A-A9IO-01A-11D-A38G-08 TCGA-3A-A9IO-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0f03781a-d0e8-412d-b9b4-cfe3a5200e63 15ef34ec-aff2-4c0d-a8cf-9d725d670cab g.chr5:114916434G>A ENST00000408996.4 - 4 1413 c.1027C>T c.(1027-1029)Cgg>Tgg p.R343W TMED7-TICAM2_ENST00000333314.3_3'UTR|TICAM2_ENST00000427199.2_Missense_Mutation_p.R174W|TMED7-TICAM2_ENST00000282382.4_Missense_Mutation_p.R343W NM_001164468.2|NM_001164469.2 NP_001157940.1|NP_001157941.1 toll-like receptor adaptor molecule 2 cervix(1)|kidney(1)|lung(2)|soft_tissue(1) 5 all_cancers(142;0.0223)|all_epithelial(76;0.000869)|Prostate(80;0.0115)|Ovarian(225;0.156) OV - Ovarian serous cystadenocarcinoma(64;4.38e-07)|Epithelial(69;1.62e-06)|all cancers(49;6.93e-05) TTCAGGGGCCGCATGGGTATA 0.438000 6 503 0 0 1 0 0 CARM1 10498 broad.mit.edu 37 19 11022906 11022906 + Missense_Mutation SNP C C T TCGA-3A-A9IO-01A-11D-A38G-08 TCGA-3A-A9IO-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0f03781a-d0e8-412d-b9b4-cfe3a5200e63 15ef34ec-aff2-4c0d-a8cf-9d725d670cab g.chr19:11022906C>T ENST00000327064.4 + 5 795 c.605C>T c.(604-606)gCc>gTc p.A202V CARM1_ENST00000344150.4_Missense_Mutation_p.A202V NM_199141.1 NP_954592.1 Q86X55 CARM1_HUMAN coactivator-associated arginine methyltransferase 1 202 cellular lipid metabolic process|histone H3-R2 methylation|interspecies interaction between organisms|pathogenesis|positive regulation of fat cell differentiation|regulation of estrogen receptor signaling pathway|regulation of transcription, DNA-dependent|transcription, DNA-dependent cytosol|nucleoplasm beta-catenin binding|histone acetyl-lysine binding|histone methyltransferase activity (H3-R17 specific)|ligand-dependent nuclear receptor transcription coactivator activity|protein-arginine omega-N asymmetric methyltransferase activity|transcription regulatory region DNA binding p.A202V(2) breast(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(4)|urinary_tract(1) 13 TCGTTTTTTGCCGCCCAAGCT 0.622000 9 898 0 0 1 0 0 FRG1B 0 broad.mit.edu 37 20 29625885 29625885 + Missense_Mutation SNP A A T TCGA-3A-A9IO-01A-11D-A38G-08 TCGA-3A-A9IO-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0f03781a-d0e8-412d-b9b4-cfe3a5200e63 15ef34ec-aff2-4c0d-a8cf-9d725d670cab g.chr20:29625885A>T ENST00000278882.3 + 5 509 c.129A>T c.(127-129)aaA>aaT p.K43N FRG1B_ENST00000358464.4_Missense_Mutation_p.K43N|FRG1B_ENST00000439954.2_Missense_Mutation_p.K48N p.K43N(2) endometrium(10)|kidney(21)|lung(3)|pancreas(1)|prostate(9)|urinary_tract(9) 53 TCGCCCTGAAATCTGGCTATG 0.353000 14 663 0 0 1 0 0 CDK12 51755 broad.mit.edu 37 17 37650878 37650878 + Silent SNP C C A TCGA-3A-A9IO-01A-11D-A38G-08 TCGA-3A-A9IO-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0f03781a-d0e8-412d-b9b4-cfe3a5200e63 15ef34ec-aff2-4c0d-a8cf-9d725d670cab g.chr17:37650878C>A ENST00000447079.4 + 5 2383 c.2350C>A c.(2350-2352)Cga>Aga p.R784R CDK12_ENST00000430627.2_Silent_p.R784R NM_015083.1|NM_016507.2 NP_055898.1|NP_057591.2 Q9NYV4 CDK12_HUMAN cyclin-dependent kinase 12 784 Protein kinase. mRNA processing|phosphorylation of RNA polymerase II C-terminal domain|protein autophosphorylation|regulation of MAP kinase activity|RNA splicing nuclear cyclin-dependent protein kinase holoenzyme complex|nuclear speck|nucleolus ATP binding|cyclin-dependent protein kinase activity|protein binding|RNA polymerase II carboxy-terminal domain kinase activity NS(4)|breast(3)|endometrium(5)|kidney(4)|large_intestine(11)|lung(23)|ovary(11)|prostate(4)|skin(2)|urinary_tract(3) 70 GTTAatccaccgaagtgttgt 0.403000 """Mis, N, F""" serous ovarian TCGA Ovarian(9;0.13) 5 131 0.014758 0.0152499 1 1 0 MAGI1 9223 broad.mit.edu 37 3 65425588 65425588 + Silent SNP C C T rs139785185 TCGA-3A-A9IO-01A-11D-A38G-08 TCGA-3A-A9IO-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0f03781a-d0e8-412d-b9b4-cfe3a5200e63 15ef34ec-aff2-4c0d-a8cf-9d725d670cab g.chr3:65425588C>T ENST00000330909.8 - 9 1235 c.1236G>A c.(1234-1236)caG>caA p.Q412Q MAGI1_ENST00000497477.2_Silent_p.Q412Q|MAGI1_ENST00000483466.1_Silent_p.Q412Q|MAGI1_ENST00000402939.2_Silent_p.Q412Q|MAGI1_ENST00000470990.1_5'UTR NM_015520.1 NP_056335.1 Q96QZ7 MAGI1_HUMAN membrane associated guanylate kinase, WW and PDZ domain containing 1 412 Poly-Gln. cell adhesion|cell surface receptor linked signaling pathway|protein complex assembly tight junction ATP binding|protein C-terminus binding breast(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(11)|liver(1)|lung(21)|pancreas(1)|skin(5) 51 Lung NSC(201;0.0016) BRCA - Breast invasive adenocarcinoma(55;0.00138)|KIRC - Kidney renal clear cell carcinoma(15;0.0988)|Kidney(15;0.133) gctgctgctgctgttgctgct 0.537000 OREG0015658 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 6 219 0 0 1 0 0 POLR1A 25885 broad.mit.edu 37 2 86272753 86272753 + Missense_Mutation SNP C C T TCGA-3A-A9IO-01A-11D-A38G-08 TCGA-3A-A9IO-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0f03781a-d0e8-412d-b9b4-cfe3a5200e63 15ef34ec-aff2-4c0d-a8cf-9d725d670cab g.chr2:86272753C>T ENST00000263857.6 - 20 3251 c.2873G>A c.(2872-2874)gGc>gAc p.G958D POLR1A_ENST00000409681.1_Missense_Mutation_p.G958D O95602 RPA1_HUMAN polymerase (RNA) I polypeptide A, 194kDa 958 termination of RNA polymerase I transcription|transcription elongation from RNA polymerase I promoter|transcription initiation from RNA polymerase I promoter DNA-directed RNA polymerase I complex|nucleoplasm DNA binding|DNA-directed RNA polymerase activity|protein binding|zinc ion binding NS(1)|breast(4)|cervix(2)|endometrium(8)|kidney(3)|large_intestine(12)|liver(1)|lung(20)|ovary(3)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(5) 63 AGGTTTGATGCCGGTGAGGAA 0.512000 6 429 0 0 1 0 0 CPD 1362 broad.mit.edu 37 17 28772820 28772820 + Silent SNP A A G TCGA-3A-A9IO-01A-11D-A38G-08 TCGA-3A-A9IO-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0f03781a-d0e8-412d-b9b4-cfe3a5200e63 15ef34ec-aff2-4c0d-a8cf-9d725d670cab g.chr17:28772820A>G ENST00000225719.4 + 12 2731 c.2655A>G c.(2653-2655)aaA>aaG p.K885K CPD_ENST00000543464.2_Silent_p.K638K NM_001304.4 NP_001295.2 O75976 CBPD_HUMAN carboxypeptidase D 885 Carboxypeptidase-like 2. proteolysis integral to membrane metallocarboxypeptidase activity|serine-type carboxypeptidase activity|zinc ion binding central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(9)|liver(1)|lung(13)|skin(5)|stomach(1)|urinary_tract(1) 36 AGAAAGGAAAAGGGGCTAGCA 0.413000 4 266 0 0 1 0 0 VCL 7414 broad.mit.edu 37 10 75854102 75854102 + Missense_Mutation SNP A A G TCGA-3A-A9IO-01A-11D-A38G-08 TCGA-3A-A9IO-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0f03781a-d0e8-412d-b9b4-cfe3a5200e63 15ef34ec-aff2-4c0d-a8cf-9d725d670cab g.chr10:75854102A>G ENST00000211998.4 + 11 1520 c.1426A>G c.(1426-1428)Aaa>Gaa p.K476E VCL_ENST00000372755.3_Missense_Mutation_p.K476E|VCL_ENST00000417648.2_Intron|VCL_ENST00000478896.2_Intron NM_014000.2 NP_054706.1 P18206 VINC_HUMAN vinculin 476 3 X 112 AA tandem repeats.|N-terminal globular head. adherens junction assembly|apical junction assembly|cell-matrix adhesion|cellular component movement|epithelial cell-cell adhesion|lamellipodium assembly|morphogenesis of an epithelium|muscle contraction|negative regulation of cell migration|platelet activation|platelet degranulation|protein localization at cell surface costamere|cytosol|extracellular region|focal adhesion actin binding|alpha-catenin binding|beta-catenin binding|beta-dystroglycan binding|cadherin binding|structural molecule activity VCL/ALK(4) breast(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(3)|lung(8)|ovary(2)|upper_aerodigestive_tract(1) 20 Prostate(51;0.0112) CCTGCAGACCAAAACCAACCG 0.562000 12 152 0 0 1 0 0 MUC4 4585 broad.mit.edu 37 3 195505836 195505836 + Missense_Mutation SNP G G C TCGA-3A-A9IO-01A-11D-A38G-08 TCGA-3A-A9IO-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0f03781a-d0e8-412d-b9b4-cfe3a5200e63 15ef34ec-aff2-4c0d-a8cf-9d725d670cab g.chr3:195505836G>C ENST00000463781.3 - 2 13074 c.12615C>G c.(12613-12615)caC>caG p.H4205Q MUC4_ENST00000349607.4_Intron|MUC4_ENST00000475231.1_Missense_Mutation_p.H4205Q|MUC4_ENST00000346145.4_Intron NM_018406.6 NP_060876.5 Q99102 MUC4_HUMAN mucin 4, cell surface associated 968 cell-matrix adhesion integral to plasma membrane|proteinaceous extracellular matrix ErbB-2 class receptor binding|extracellular matrix constituent, lubricant activity p.H4205Q(10) NS(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(5)|lung(23)|ovary(3)|prostate(8)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 51 all_cancers(143;1.11e-08)|Ovarian(172;0.0634)|Breast(254;0.206) Lung NSC(153;0.191) Epithelial(36;3.72e-24)|all cancers(36;6.22e-22)|OV - Ovarian serous cystadenocarcinoma(49;1.1e-18)|Lung(62;4.65e-05)|LUSC - Lung squamous cell carcinoma(58;5.31e-05) GBM - Glioblastoma multiforme(46;2.37e-05) GAGGGGTGGCGTGACCTGTGG 0.597000 4 11 0 0 1 0 0 PI4KA 5297 broad.mit.edu 37 22 21067590 21067590 + Silent SNP C C T rs2539909 TCGA-3A-A9IO-01A-11D-A38G-08 TCGA-3A-A9IO-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0f03781a-d0e8-412d-b9b4-cfe3a5200e63 15ef34ec-aff2-4c0d-a8cf-9d725d670cab g.chr22:21067590C>T ENST00000255882.6 - 48 5636 c.5550G>A c.(5548-5550)aaG>aaA p.K1850K PI4KA_ENST00000414196.3_Silent_p.K602K|PI4KA_ENST00000572273.1_Silent_p.K1792K NM_058004.3 NP_477352.3 P42356 PI4KA_HUMAN phosphatidylinositol 4-kinase, catalytic, alpha 1792 PI3K/PI4K. phosphatidylinositol biosynthetic process|phosphatidylinositol-mediated signaling|synaptic transmission Golgi-associated vesicle 1-phosphatidylinositol 4-kinase activity|ATP binding|protein binding breast(3)|endometrium(8)|kidney(9)|large_intestine(19)|lung(29)|ovary(1)|pancreas(1)|prostate(3)|salivary_gland(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1) 79 all_cancers(11;7.59e-25)|all_epithelial(7;1.34e-22)|Melanoma(16;0.000465)|Ovarian(15;0.00167)|Colorectal(54;0.0332)|all_neural(72;0.142) Lung SC(17;0.0262) LUSC - Lung squamous cell carcinoma(15;0.000536)|Lung(15;0.0108)|Epithelial(17;0.196) CGTCTCCCACCTTGAAGATGG 0.662000 4 63 0 0 1 0 0 FAM104B 90736 broad.mit.edu 37 X 55172596 55172596 + Missense_Mutation SNP C C G TCGA-3A-A9IO-01A-11D-A38G-08 TCGA-3A-A9IO-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0f03781a-d0e8-412d-b9b4-cfe3a5200e63 15ef34ec-aff2-4c0d-a8cf-9d725d670cab g.chrX:55172596C>G ENST00000425133.2 - 3 310 c.272G>C c.(271-273)gGt>gCt p.G91A FAM104B_ENST00000358460.4_Intron|FAM104B_ENST00000477847.2_Missense_Mutation_p.G87A|FAM104B_ENST00000332132.4_Intron|FAM104B_ENST00000472571.2_3'UTR|FAM104B_ENST00000489298.1_Missense_Mutation_p.G89A NM_001166700.1|NM_001166701.1|NM_001166704.1 NP_001160172.1|NP_001160173.1|NP_001160176.1 Q5XKR9 F104B_HUMAN family with sequence similarity 104, member B 0 endometrium(3)|large_intestine(2)|lung(2)|upper_aerodigestive_tract(1) 8 GGAGTAAAGACCTTGGCATGG 0.483000 4 153 0 0 1 0 0 OR2G3 81469 broad.mit.edu 37 1 247769306 247769306 + Missense_Mutation SNP T T A TCGA-3A-A9IO-01A-11D-A38G-08 TCGA-3A-A9IO-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0f03781a-d0e8-412d-b9b4-cfe3a5200e63 15ef34ec-aff2-4c0d-a8cf-9d725d670cab g.chr1:247769306T>A ENST00000320002.2 + 1 451 c.419T>A c.(418-420)cTt>cAt p.L140H RP11-978I15.10_ENST00000435333.1_RNA|RP11-978I15.10_ENST00000446347.1_RNA NM_001001914.1 NP_001001914.1 Q8NGZ4 OR2G3_HUMAN olfactory receptor, family 2, subfamily G, member 3 140 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity NS(1)|breast(3)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(2)|liver(1)|lung(31)|skin(5) 50 all_cancers(71;3.24e-05)|all_epithelial(71;1.3e-05)|Breast(184;0.0149)|Ovarian(71;0.0377)|all_lung(81;0.0662)|Lung NSC(105;0.0724) OV - Ovarian serous cystadenocarcinoma(106;0.017) AACCCACGGCTTTGCCAACAG 0.507000 115 417 0 0 1 0 0 CEACAM5 1048 broad.mit.edu 37 19 42225061 42225061 + Missense_Mutation SNP G G A TCGA-3A-A9IO-01A-11D-A38G-08 TCGA-3A-A9IO-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0f03781a-d0e8-412d-b9b4-cfe3a5200e63 15ef34ec-aff2-4c0d-a8cf-9d725d670cab g.chr19:42225061G>A ENST00000221992.6 + 8 2105 c.1991G>A c.(1990-1992)cGc>cAc p.R664H CEA_ENST00000598976.1_Intron|CEACAM5_ENST00000398599.4_Missense_Mutation_p.R663H|CEACAM5_ENST00000405816.1_Missense_Mutation_p.R664H NM_004363.2 NP_004354.2 P06731 CEAM5_HUMAN carcinoembryonic antigen-related cell adhesion molecule 5 664 Ig-like 7. R -> S (in dbSNP:rs10423171). 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) GCTACTGGCCGCAATAATTCC 0.473000 6 313 0 0 1 0 0 MUC16 94025 broad.mit.edu 37 19 9059381 9059381 + Silent SNP G G T TCGA-3A-A9IO-01A-11D-A38G-08 TCGA-3A-A9IO-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0f03781a-d0e8-412d-b9b4-cfe3a5200e63 15ef34ec-aff2-4c0d-a8cf-9d725d670cab g.chr19:9059381G>T ENST00000397910.4 - 3 28268 c.28065C>A c.(28063-28065)acC>acA p.T9355T NM_024690.2 NP_078966.2 Q8WXI7 MUC16_HUMAN mucin 16, cell surface associated 9357 Ser-rich.|Thr-rich. cell adhesion extracellular space|extrinsic to membrane|integral to membrane|plasma membrane protein binding NS(9)|autonomic_ganglia(1)|breast(26)|central_nervous_system(11)|cervix(1)|endometrium(46)|haematopoietic_and_lymphoid_tissue(5)|kidney(35)|large_intestine(91)|liver(1)|lung(278)|ovary(17)|pancreas(2)|prostate(17)|skin(18)|soft_tissue(1)|stomach(8)|upper_aerodigestive_tract(16)|urinary_tract(7) 590 TTGTGAGGGGGGTAGAAATTC 0.507000 42 405 2.66277e-13 2.91338e-13 1 1 0 DENND5B 160518 broad.mit.edu 37 12 31545239 31545239 + Missense_Mutation SNP C C T TCGA-3A-A9IO-01A-11D-A38G-08 TCGA-3A-A9IO-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0f03781a-d0e8-412d-b9b4-cfe3a5200e63 15ef34ec-aff2-4c0d-a8cf-9d725d670cab g.chr12:31545239C>T ENST00000389082.5 - 19 3692 c.3428G>A c.(3427-3429)cGc>cAc p.R1143H DENND5B_ENST00000306833.6_Missense_Mutation_p.R1178H|DENND5B_ENST00000536562.1_Missense_Mutation_p.R1178H NM_144973.3 NP_659410.3 Q6ZUT9 DEN5B_HUMAN DENN/MADD domain containing 5B 1143 RUN 2. integral to membrane NS(2)|central_nervous_system(1)|endometrium(1)|kidney(4)|large_intestine(8)|lung(17)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2) 38 GTGAAAGATGCGGGCAGATTT 0.453000 4 204 0 0 1 0 0 RUNX1T1 862 broad.mit.edu 37 8 92998452 92998452 + Silent SNP G G A TCGA-3A-A9IO-01A-11D-A38G-08 TCGA-3A-A9IO-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0f03781a-d0e8-412d-b9b4-cfe3a5200e63 15ef34ec-aff2-4c0d-a8cf-9d725d670cab g.chr8:92998452G>A ENST00000523629.1 - 9 1633 c.1179C>T c.(1177-1179)atC>atT p.I393I RUNX1T1_ENST00000360348.2_Silent_p.I356I|RUNX1T1_ENST00000265814.3_Silent_p.I393I|RUNX1T1_ENST00000436581.2_Silent_p.I404I|RUNX1T1_ENST00000396218.1_Silent_p.I366I|RUNX1T1_ENST00000520724.1_Silent_p.I356I|RUNX1T1_ENST00000518844.1_Silent_p.I366I|RUNX1T1_ENST00000422361.2_Silent_p.I356I NM_001198626.1|NM_001198630.1|NM_001198633.1|NM_175634.2 NP_001185555.1|NP_001185559.1|NP_001185562.1|NP_783552.1 Q06455 MTG8_HUMAN runt-related transcription factor 1; translocated to, 1 (cyclin D-related) 393 generation of precursor metabolites and energy nucleus DNA binding|protein binding|sequence-specific DNA binding transcription factor activity|zinc ion binding NS(1)|breast(3)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(17)|lung(54)|pancreas(1)|skin(3)|upper_aerodigestive_tract(2) 86 BRCA - Breast invasive adenocarcinoma(11;0.0141) TGTACCGCCGGATCCAGTAAT 0.512000 32 631 0 0 1 0 0 NBPF12 149013 broad.mit.edu 37 1 146397379 146397379 + Missense_Mutation SNP C C G TCGA-3A-A9IO-01A-11D-A38G-08 TCGA-3A-A9IO-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0f03781a-d0e8-412d-b9b4-cfe3a5200e63 15ef34ec-aff2-4c0d-a8cf-9d725d670cab g.chr1:146397379C>G ENST00000442909.2 + 6 1032 c.196C>G c.(196-198)Ctc>Gtc p.L66V NBPF12_ENST00000446760.2_Missense_Mutation_p.L66V|NBPF12_ENST00000309471.8_Intron neuroblastoma breakpoint family, member 12 ovary(2) 2 GTGTAAAGACCTCATAAAATT 0.527000 8 851 0 0 1 0 0 CDH23 64072 broad.mit.edu 37 10 73377113 73377113 + Missense_Mutation SNP C C T TCGA-3A-A9IO-01A-11D-A38G-08 TCGA-3A-A9IO-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0f03781a-d0e8-412d-b9b4-cfe3a5200e63 15ef34ec-aff2-4c0d-a8cf-9d725d670cab g.chr10:73377113C>T ENST00000224721.6 + 10 1117 c.1112C>T c.(1111-1113)gCc>gTc p.A371V CDH23_ENST00000299366.7_Missense_Mutation_p.A411V|CDH23_ENST00000461841.3_Missense_Mutation_p.A411V|CDH23_ENST00000398809.4_Missense_Mutation_p.A366V|CDH23_ENST00000398842.3_Missense_Mutation_p.A366V NM_022124.5 NP_071407.4 Q9H251 CAD23_HUMAN cadherin-related 23 366 Cadherin 4. calcium ion transport|calcium-dependent cell-cell adhesion|cytosolic calcium ion homeostasis|equilibrioception|homophilic cell adhesion|photoreceptor cell maintenance|response to stimulus|sensory perception of sound cytosol|integral to membrane|plasma membrane|stereocilium calcium ion binding|protein binding NS(1)|breast(2)|central_nervous_system(6)|endometrium(15)|haematopoietic_and_lymphoid_tissue(5)|kidney(7)|large_intestine(27)|lung(49)|ovary(3)|pancreas(1)|prostate(7)|stomach(7)|upper_aerodigestive_tract(3) 133 GTCGGCTTTGCCCTTCCACTC 0.567000 4 181 0 0 1 0 0 RP11-368J21.3 0 broad.mit.edu 37 16 22588087 22588087 + RNA SNP G G C TCGA-3A-A9IO-01A-11D-A38G-08 TCGA-3A-A9IO-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0f03781a-d0e8-412d-b9b4-cfe3a5200e63 15ef34ec-aff2-4c0d-a8cf-9d725d670cab g.chr16:22588087G>C ENST00000550753.1 + 0 2562 NR_003676.2 GTGGGACACCGTTCCCTGGAT 0.522000 5 130 0 0 1 0 0 MFN1 55669 broad.mit.edu 37 3 179076706 179076706 + Silent SNP C C A TCGA-3A-A9IO-01A-11D-A38G-08 TCGA-3A-A9IO-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0f03781a-d0e8-412d-b9b4-cfe3a5200e63 15ef34ec-aff2-4c0d-a8cf-9d725d670cab g.chr3:179076706C>A ENST00000471841.1 + 4 453 c.327C>A c.(325-327)acC>acA p.T109T MFN1_ENST00000280653.7_Silent_p.T109T|MFN1_ENST00000263969.5_Silent_p.T109T NM_033540.2 NP_284941.2 Q8IWA4 MFN1_HUMAN mitofusin 1 109 mitochondrial fusion integral to membrane|mitochondrial outer membrane GTP binding|GTPase activity breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|lung(14)|ovary(3)|prostate(1)|urinary_tract(1) 31 all_cancers(143;1.67e-16)|Ovarian(172;0.0172)|Breast(254;0.155) OV - Ovarian serous cystadenocarcinoma(80;5.78e-26)|GBM - Glioblastoma multiforme(14;0.00225)|BRCA - Breast invasive adenocarcinoma(182;0.0923) GCCATATAACCAATTGCTTCC 0.388000 4 214 1 1 1 1 0 ASS1 445 broad.mit.edu 37 9 133333912 133333912 + Missense_Mutation SNP G G A rs138279074 byFrequency TCGA-3A-A9IO-01A-11D-A38G-08 TCGA-3A-A9IO-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0f03781a-d0e8-412d-b9b4-cfe3a5200e63 15ef34ec-aff2-4c0d-a8cf-9d725d670cab g.chr9:133333912G>A ENST00000372394.1 + 5 780 c.299G>A c.(298-300)cGc>cAc p.R100H ASS1_ENST00000372393.3_Missense_Mutation_p.R100H|ASS1_ENST00000352480.5_Missense_Mutation_p.R100H P00966 ASSY_HUMAN argininosuccinate synthase 1 100 arginine biosynthetic process|urea cycle cytosol argininosuccinate synthase activity|ATP binding|protein binding breast(1)|cervix(1)|endometrium(2)|kidney(3)|large_intestine(3)|lung(4)|ovary(1)|skin(1)|urinary_tract(1) 17 OV - Ovarian serous cystadenocarcinoma(145;0.000514) Adenosine triphosphate(DB00171)|L-Arginine(DB00125)|L-Aspartic Acid(DB00128)|L-Citrulline(DB00155) TGCATCGCCCGCAAACAAGTG 0.637000 4 159 0 0 1 0 0 BMS1 9790 broad.mit.edu 37 10 43318571 43318571 + Missense_Mutation SNP G G A TCGA-3A-A9IO-01A-11D-A38G-08 TCGA-3A-A9IO-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0f03781a-d0e8-412d-b9b4-cfe3a5200e63 15ef34ec-aff2-4c0d-a8cf-9d725d670cab g.chr10:43318571G>A ENST00000374518.4 + 20 3201 c.3138G>A c.(3136-3138)atG>atA p.M1046I NM_014753.3 NP_055568.3 Q14692 BMS1_HUMAN BMS1 ribosome biogenesis factor 1046 ribosome assembly nucleolus ATP binding|GTP binding|GTPase activity p.M1046I(1) NS(1)|breast(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(15)|lung(23)|ovary(2)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 62 TGTAGGGAATGTTTAATTCTG 0.393000 6 500 0 0 1 0 0 ARPP21 10777 broad.mit.edu 37 3 35785355 35785355 + Missense_Mutation SNP G G T rs141444314 TCGA-3A-A9IO-01A-11D-A38G-08 TCGA-3A-A9IO-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0f03781a-d0e8-412d-b9b4-cfe3a5200e63 15ef34ec-aff2-4c0d-a8cf-9d725d670cab g.chr3:35785355G>T ENST00000187397.4 + 18 2386 c.1930G>T c.(1930-1932)Ggt>Tgt p.G644C ARPP21_ENST00000444190.1_Missense_Mutation_p.G625C|ARPP21_ENST00000337271.5_Missense_Mutation_p.G625C|ARPP21_ENST00000417925.1_Missense_Mutation_p.G645C|ARPP21_ENST00000458225.1_Missense_Mutation_p.G645C NM_016300.4 NP_057384.2 Q9UBL0 ARP21_HUMAN cAMP-regulated phosphoprotein, 21kDa 644 Gln-rich. cytoplasm nucleic acid binding cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(12)|lung(31)|ovary(3)|prostate(4)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1) 61 TTACCCATCTGGTCAGTACCC 0.448000 5 329 0.014758 0.0152499 1 1 0 SYNJ1 8867 broad.mit.edu 37 21 34003427 34003427 + Missense_Mutation SNP G G A TCGA-3A-A9IO-01A-11D-A38G-08 TCGA-3A-A9IO-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0f03781a-d0e8-412d-b9b4-cfe3a5200e63 15ef34ec-aff2-4c0d-a8cf-9d725d670cab g.chr21:34003427G>A ENST00000382491.3 - 28 4583 c.4459C>T c.(4459-4461)Ccg>Tcg p.P1487S SYNJ1_ENST00000382499.2_3'UTR|SYNJ1_ENST00000322229.7_Missense_Mutation_p.P1534S|SYNJ1_ENST00000357345.3_3'UTR|SYNJ1_ENST00000433931.2_Missense_Mutation_p.P1573S NM_001160306.1 NP_001153778.1 O43426 SYNJ1_HUMAN synaptojanin 1 1534 Poly-Glu.|Pro-rich. inositol-polyphosphate 5-phosphatase activity|nucleotide binding|phosphatidylinositol-4,5-bisphosphate 5-phosphatase activity|RNA binding breast(1)|cervix(1)|endometrium(13)|kidney(5)|large_intestine(13)|lung(11)|ovary(4)|pancreas(1)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(2) 57 CTTCTTGACGGCAACACACAG 0.517000 5 282 0 0 1 0 0 PLEKHG5 57449 broad.mit.edu 37 1 6536011 6536013 + In_Frame_Del DEL CTC CTC - TCGA-3A-A9IO-01A-11D-A38G-08 TCGA-3A-A9IO-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0f03781a-d0e8-412d-b9b4-cfe3a5200e63 15ef34ec-aff2-4c0d-a8cf-9d725d670cab g.chr1:6536011_6536013delCTC ENST00000377748.1 - 4 855_857 c.358_360delGAG c.(358-360)del p.E120del PLEKHG5_ENST00000535355.1_In_Frame_Del_p.E112del|PLEKHG5_ENST00000400915.3_In_Frame_Del_p.E99del|PLEKHG5_ENST00000544978.1_In_Frame_Del_p.E43del|PLEKHG5_ENST00000377725.1_In_Frame_Del_p.E43del|PLEKHG5_ENST00000537245.1_In_Frame_Del_p.E122del|PLEKHG5_ENST00000340850.5_In_Frame_Del_p.E43del|PLEKHG5_ENST00000400913.1_In_Frame_Del_p.E43del|PLEKHG5_ENST00000377732.1_In_Frame_Del_p.E80del|PLEKHG5_ENST00000377737.2_In_Frame_Del_p.E43del|PLEKHG5_ENST00000377740.3_In_Frame_Del_p.E120del|PLEKHG5_ENST00000377728.3_In_Frame_Del_p.E43del NM_198681.3 NP_941374.2 O94827 PKHG5_HUMAN pleckstrin homology domain containing, family G (with RhoGef domain) member 5 99 apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|positive regulation of I-kappaB kinase/NF-kappaB cascade|regulation of Rho protein signal transduction|small GTPase mediated signal transduction cytosol|perinuclear region of cytoplasm Rho guanyl-nucleotide exchange factor activity|signal transducer activity liver(1) 1 Ovarian(185;0.02)|all_lung(157;0.154) all_cancers(23;1.7e-35)|all_epithelial(116;2.78e-22)|all_lung(118;7.57e-07)|Lung NSC(185;4.26e-06)|Colorectal(325;4.47e-05)|all_hematologic(16;0.00014)|Breast(487;0.000688)|Renal(390;0.0007)|Hepatocellular(190;0.00308)|Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.0448) Epithelial(90;5.51e-35)|GBM - Glioblastoma multiforme(13;3.57e-27)|Colorectal(212;6.23e-08)|COAD - Colon adenocarcinoma(227;1.33e-05)|Kidney(185;4.89e-05)|KIRC - Kidney renal clear cell carcinoma(229;0.000894)|BRCA - Breast invasive adenocarcinoma(365;0.00107)|STAD - Stomach adenocarcinoma(132;0.00159)|READ - Rectum adenocarcinoma(331;0.0419) CCACAGAGCTCTCCTCCTCCTCC 0.631 OREG0013041 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 11 229 --- --- --- --- TAF1B 9014 broad.mit.edu 37 2 10059788 10059788 + Frame_Shift_Del DEL A A - TCGA-3A-A9IO-01A-11D-A38G-08 TCGA-3A-A9IO-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0f03781a-d0e8-412d-b9b4-cfe3a5200e63 15ef34ec-aff2-4c0d-a8cf-9d725d670cab g.chr2:10059788delA ENST00000263663.5 + 14 1592 c.1404delA c.(1402-1404)ggfs p.G468fs TAF1B_ENST00000396242.3_Frame_Shift_Del_p.G213fs NM_005680.2 NP_005671.2 Q53T94 TAF1B_HUMAN TATA box binding protein (TBP)-associated factor, RNA polymerase I, B, 63kDa 468 termination of RNA polymerase I transcription|transcription elongation from RNA polymerase I promoter|transcription initiation from RNA polymerase I promoter nucleoplasm DNA binding|sequence-specific DNA binding transcription factor activity breast(2)|central_nervous_system(1)|endometrium(1)|kidney(1)|lung(4)|ovary(2)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1) 14 all_hematologic(175;0.127)|Acute lymphoblastic leukemia(172;0.155) CAACTGCTGGAAAAAAAAGCC 0.418 7 360 --- --- --- --- BRE 9577 broad.mit.edu 37 2 28248272 28248273 + Frame_Shift_Ins INS - - A TCGA-3A-A9IO-01A-11D-A38G-08 TCGA-3A-A9IO-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0f03781a-d0e8-412d-b9b4-cfe3a5200e63 15ef34ec-aff2-4c0d-a8cf-9d725d670cab g.chr2:28248272_28248273insA ENST00000344773.2 + 5 618_619 c.480_481insA c.(478-483)ggaaaafs p.GK160fs BRE_ENST00000361704.2_Frame_Shift_Ins_p.GK160fs|BRE_ENST00000379624.1_Frame_Shift_Ins_p.GK160fs|BRE_ENST00000342045.2_Frame_Shift_Ins_p.GK160fs|BRE_ENST00000379632.2_Frame_Shift_Ins_p.GK160fs|BRE_ENST00000603461.1_3'UTR NM_004899.4 NP_004890.2 Q9NXR7 BRE_HUMAN brain and reproductive organ-expressed (TNFRSF1A modulator) 160 apoptosis|chromatin modification|double-strand break repair|G2/M transition DNA damage checkpoint|positive regulation of anti-apoptosis|positive regulation of DNA repair|response to ionizing radiation|signal transduction BRCA1-A complex|BRISC complex|cytoplasm|nuclear ubiquitin ligase complex peroxisome targeting sequence binding|polyubiquitin binding|tumor necrosis factor receptor binding NS(1)|endometrium(3)|kidney(2)|large_intestine(2)|lung(11)|prostate(2)|skin(2) 23 Acute lymphoblastic leukemia(172;0.155) TTTATGCTGGGAAAAAAAACAA 0.391 7 248 --- --- --- --- AC016995.3 0 broad.mit.edu 37 2 38710019 38710019 + RNA DEL T T - rs2005502 by1000genomes TCGA-3A-A9IO-01A-11D-A38G-08 TCGA-3A-A9IO-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0f03781a-d0e8-412d-b9b4-cfe3a5200e63 15ef34ec-aff2-4c0d-a8cf-9d725d670cab g.chr2:38710019delT ENST00000417039.1 - 0 696 CTTtaaaaaataaataaataa 0.244 8 44 --- --- --- --- ANKRD36BP2 0 broad.mit.edu 37 2 89082220 89082223 + RNA DEL TGAT TGAT - TCGA-3A-A9IO-01A-11D-A38G-08 TCGA-3A-A9IO-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0f03781a-d0e8-412d-b9b4-cfe3a5200e63 15ef34ec-aff2-4c0d-a8cf-9d725d670cab g.chr2:89082220_89082223delTGAT ENST00000393525.3 + 0 474 TGTGTACATATGATTGATTATGTA 0.328 8 221 --- --- --- --- TMEM131 23505 broad.mit.edu 37 2 98427639 98427639 + Frame_Shift_Del DEL T T - TCGA-3A-A9IO-01A-11D-A38G-08 TCGA-3A-A9IO-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0f03781a-d0e8-412d-b9b4-cfe3a5200e63 15ef34ec-aff2-4c0d-a8cf-9d725d670cab g.chr2:98427639delT ENST00000186436.5 - 18 2148 c.1920delA c.(1918-1920)aafs p.K640fs NM_015348.1 NP_056163.1 Q92545 TM131_HUMAN transmembrane protein 131 640 integral to membrane NS(1)|autonomic_ganglia(1)|breast(3)|central_nervous_system(4)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(23)|ovary(4)|prostate(1)|skin(1)|stomach(1) 57 TCCCCTCTAATTTTTTTGCAG 0.393 9 883 --- --- --- --- GTF3C3 9330 broad.mit.edu 37 2 197649613 197649614 + Frame_Shift_Ins INS - - T TCGA-3A-A9IO-01A-11D-A38G-08 TCGA-3A-A9IO-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0f03781a-d0e8-412d-b9b4-cfe3a5200e63 15ef34ec-aff2-4c0d-a8cf-9d725d670cab g.chr2:197649613_197649614insT ENST00000263956.3 - 8 1170_1171 c.1081_1082insA c.(1081-1083)ttcfs p.F361fs GTF3C3_ENST00000409364.3_Frame_Shift_Ins_p.F361fs NM_012086.4 NP_036218.1 Q9Y5Q9 TF3C3_HUMAN general transcription factor IIIC, polypeptide 3, 102kDa 361 transcription factor TFIIIC complex DNA binding|protein binding breast(4)|endometrium(3)|kidney(1)|large_intestine(9)|lung(5)|ovary(3)|pancreas(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3) 33 TTCTTCTGAAGTTTTTTTTTCC 0.337 7 342 --- --- --- --- NPRL2 10641 broad.mit.edu 37 3 50385605 50385623 + Frame_Shift_Del DEL CACGGTAGTGCCAGGGCTC CACGGTAGTGCCAGGGCTC - TCGA-3A-A9IO-01A-11D-A38G-08 TCGA-3A-A9IO-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0f03781a-d0e8-412d-b9b4-cfe3a5200e63 15ef34ec-aff2-4c0d-a8cf-9d725d670cab g.chr3:50385605_50385623delCACGGTAGTGCCAGGGCTC ENST00000232501.3 - 9 1302_1320 c.864_882delGAGCCCTGGCACTACCGTG c.(862-882)ctfs p.LSPGTTV288fs NPRL2_ENST00000493465.1_Intron NM_006545.4 NP_006536.3 Q8WTW4 NPRL2_HUMAN nitrogen permease regulator-like 2 (S. cerevisiae) 288 negative regulation of kinase activity protein binding|protein kinase activity breast(2)|endometrium(2)|kidney(1)|large_intestine(1)|lung(3)|prostate(1)|urinary_tract(1) 11 TGAGGTCTCGCACGGTAGTGCCAGGGCTCAGGCTGCAGT 0.598 53 86 --- --- --- --- ACOX2 8309 broad.mit.edu 37 3 58514557 58514558 + Frame_Shift_Del DEL AG AG - TCGA-3A-A9IO-01A-11D-A38G-08 TCGA-3A-A9IO-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0f03781a-d0e8-412d-b9b4-cfe3a5200e63 15ef34ec-aff2-4c0d-a8cf-9d725d670cab g.chr3:58514557_58514558delAG ENST00000302819.5 - 9 1409_1410 c.1118_1119delCT c.(1117-1119)afs p.T373fs ACOX2_ENST00000459701.2_Frame_Shift_Del_p.T359fs NM_003500.3 NP_003491.1 Q99424 ACOX2_HUMAN acyl-CoA oxidase 2, branched chain 373 bile acid biosynthetic process|fatty acid beta-oxidation using acyl-CoA oxidase peroxisomal matrix 3alpha,7alpha,12alpha-trihydroxy-5beta-cholestanoyl-CoA 24-hydroxylase activity|acyl-CoA dehydrogenase activity|pristanoyl-CoA oxidase activity breast(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(8)|prostate(1)|skin(3)|urinary_tract(1) 25 BRCA - Breast invasive adenocarcinoma(55;0.000194)|Kidney(10;0.00255)|KIRC - Kidney renal clear cell carcinoma(10;0.00268)|OV - Ovarian serous cystadenocarcinoma(275;0.156) TCAGAATGGCAGTGTAGGAGTG 0.550 74 63 --- --- --- --- RP11-341G5.1 0 broad.mit.edu 37 4 13799706 13799708 + RNA DEL ATG ATG - TCGA-3A-A9IO-01A-11D-A38G-08 TCGA-3A-A9IO-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0f03781a-d0e8-412d-b9b4-cfe3a5200e63 15ef34ec-aff2-4c0d-a8cf-9d725d670cab g.chr4:13799706_13799708delATG ENST00000510907.1 + 0 281 aggaataagaatgaggaggagga 0.527 2 4 --- --- --- --- CLOCK 9575 broad.mit.edu 37 4 56304530 56304532 + In_Frame_Del DEL CTG CTG - TCGA-3A-A9IO-01A-11D-A38G-08 TCGA-3A-A9IO-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0f03781a-d0e8-412d-b9b4-cfe3a5200e63 15ef34ec-aff2-4c0d-a8cf-9d725d670cab g.chr4:56304530_56304532delCTG ENST00000309964.4 - 21 2528_2530 c.2278_2280delCAG c.(2278-2280)del p.Q760del CLOCK_ENST00000513440.1_In_Frame_Del_p.Q760del|CLOCK_ENST00000381322.1_In_Frame_Del_p.Q760del NM_004898.3 NP_004889.1 O15516 CLOCK_HUMAN clock circadian regulator 760 Gln-rich. circadian rhythm|photoperiodism|positive regulation of transcription from RNA polymerase II promoter cytoplasm|transcription factor complex DNA binding|histone acetyltransferase activity|sequence-specific DNA binding transcription factor activity|signal transducer activity breast(1)|central_nervous_system(3)|cervix(1)|endometrium(4)|kidney(5)|large_intestine(9)|lung(8)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(1) 38 Lung NSC(11;0.00335)|Glioma(25;0.08)|all_epithelial(27;0.0992)|all_neural(26;0.101) LUSC - Lung squamous cell carcinoma(4;1.62e-07)|Lung(4;1.34e-06)|Epithelial(7;0.0107) cctgggagctctgctgctgctgc 0.512 7 256 --- --- --- --- ACSL1 2180 broad.mit.edu 37 4 185678849 185678849 + Frame_Shift_Del DEL T T - rs139154123 byFrequency TCGA-3A-A9IO-01A-11D-A38G-08 TCGA-3A-A9IO-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0f03781a-d0e8-412d-b9b4-cfe3a5200e63 15ef34ec-aff2-4c0d-a8cf-9d725d670cab g.chr4:185678849delT ENST00000515030.1 - 20 2221 c.1896delA c.(1894-1896)aafs p.K632fs ACSL1_ENST00000281455.2_Frame_Shift_Del_p.K632fs|ACSL1_ENST00000507295.1_Frame_Shift_Del_p.K598fs|ACSL1_ENST00000513317.1_Frame_Shift_Del_p.K632fs|ACSL1_ENST00000437665.3_Frame_Shift_Del_p.K461fs|ACSL1_ENST00000504342.1_Frame_Shift_Del_p.K632fs|ACSL1_ENST00000454703.2_Frame_Shift_Del_p.K461fs P33121 ACSL1_HUMAN acyl-CoA synthetase long-chain family member 1 632 digestion|fatty acid metabolic process|long-chain fatty-acyl-CoA biosynthetic process|regulation of fatty acid oxidation|triglyceride biosynthetic process endoplasmic reticulum membrane|integral to membrane|microsome|mitochondrial outer membrane|peroxisomal membrane ATP binding|long-chain fatty acid-CoA ligase activity NS(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(6)|liver(1)|lung(17)|ovary(2)|prostate(1)|skin(2) 38 all_lung(41;7.57e-14)|Lung NSC(41;1.81e-13)|Colorectal(36;0.00172)|Hepatocellular(41;0.00826)|Renal(120;0.00988)|Prostate(90;0.0235)|all_hematologic(60;0.0315)|all_neural(102;0.107)|Medulloblastoma(177;0.146) all cancers(43;1.33e-28)|Epithelial(43;5.3e-25)|OV - Ovarian serous cystadenocarcinoma(60;4.88e-11)|Colorectal(24;3.59e-06)|STAD - Stomach adenocarcinoma(60;2.72e-05)|GBM - Glioblastoma multiforme(59;2.83e-05)|BRCA - Breast invasive adenocarcinoma(30;7.66e-05)|COAD - Colon adenocarcinoma(29;0.000538)|LUSC - Lung squamous cell carcinoma(40;0.008)|READ - Rectum adenocarcinoma(43;0.0419) Adenosine monophosphate(DB00131)|Adenosine triphosphate(DB00171) CGAGGATAGCTTTTTTGACAT 0.383 8 1003 --- --- --- --- PAM 5066 broad.mit.edu 37 5 102296908 102296910 + In_Frame_Del DEL AGA AGA - TCGA-3A-A9IO-01A-11D-A38G-08 TCGA-3A-A9IO-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0f03781a-d0e8-412d-b9b4-cfe3a5200e63 15ef34ec-aff2-4c0d-a8cf-9d725d670cab g.chr5:102296908_102296910delAGA ENST00000438793.3 + 13 1607_1609 c.1137_1139delAGA c.(1135-1140)cga>cg p.RE379del PAM_ENST00000346918.2_In_Frame_Del_p.RE379del|PAM_ENST00000379787.4_5'UTR|PAM_ENST00000455264.2_In_Frame_Del_p.RE379del|PAM_ENST00000348126.2_In_Frame_Del_p.RE379del|PAM_ENST00000274392.9_In_Frame_Del_p.RE282del|PAM_ENST00000304400.7_In_Frame_Del_p.RE379del NM_000919.3|NM_001177306.1|NM_138766.2 NP_000910.2|NP_001170777.1|NP_620121.1 P19021 AMD_HUMAN peptidylglycine alpha-amidating monooxygenase 379 Peptidylglycine alpha-hydroxylating monooxygenase (By similarity). peptide metabolic process|protein modification process extracellular region|integral to membrane|stored secretory granule L-ascorbic acid binding|peptidylamidoglycolate lyase activity|peptidylglycine monooxygenase activity|protein binding endometrium(2)|kidney(2)|large_intestine(10)|lung(8)|prostate(2)|upper_aerodigestive_tract(1) 25 all_cancers(142;3.12e-07)|all_epithelial(76;3.48e-10)|Prostate(80;0.00914)|Lung NSC(167;0.0213)|Ovarian(225;0.024)|Colorectal(57;0.0251)|all_lung(232;0.0284) Epithelial(69;1.1e-13)|COAD - Colon adenocarcinoma(37;0.0127) Vitamin C(DB00126) AGCCAAAACGAGAAGAAGAAGAA 0.325 9 872 --- --- --- --- HAVCR2 84868 broad.mit.edu 37 5 156535948 156535950 + In_Frame_Del DEL AGC AGC - TCGA-3A-A9IO-01A-11D-A38G-08 TCGA-3A-A9IO-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0f03781a-d0e8-412d-b9b4-cfe3a5200e63 15ef34ec-aff2-4c0d-a8cf-9d725d670cab g.chr5:156535948_156535950delAGC ENST00000307851.4 - 1 775_777 c.45_47delGCT c.(43-48)cta>ct p.LL17del HAVCR2_ENST00000522593.1_In_Frame_Del_p.LL17del|CTB-120L21.1_ENST00000517708.1_RNA NM_032782.4 NP_116171.3 Q8TDQ0 HAVR2_HUMAN hepatitis A virus cellular receptor 2 17 integral to membrane p.L18delL(1)|p.L15L(1) cervix(1)|large_intestine(4)|lung(12)|prostate(2)|skin(1)|upper_aerodigestive_tract(2) 22 Renal(175;0.00212) Medulloblastoma(196;0.0354)|all_neural(177;0.0999) Kidney(164;0.000171)|KIRC - Kidney renal clear cell carcinoma(164;0.000785) TGTAAGTAGTAGCAGCAGCAGCA 0.438 11 275 --- --- --- --- ZNF184 7738 broad.mit.edu 37 6 27420810 27420810 + Frame_Shift_Del DEL T T - TCGA-3A-A9IO-01A-11D-A38G-08 TCGA-3A-A9IO-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0f03781a-d0e8-412d-b9b4-cfe3a5200e63 15ef34ec-aff2-4c0d-a8cf-9d725d670cab g.chr6:27420810delT ENST00000211936.6 - 6 812 c.528delA c.(526-528)aafs p.K176fs ZNF184_ENST00000377419.1_Frame_Shift_Del_p.K176fs NM_007149.2 NP_009080.2 Q99676 ZN184_HUMAN zinc finger protein 184 176 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding breast(1)|cervix(1)|endometrium(4)|kidney(9)|large_intestine(13)|lung(14)|ovary(1)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1) 48 TTACAGGGCCTTTTTCCCAAC 0.408 7 1382 --- --- --- --- OR2J2 26707 broad.mit.edu 37 6 29141422 29141422 + Frame_Shift_Del DEL A A - TCGA-3A-A9IO-01A-11D-A38G-08 TCGA-3A-A9IO-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0f03781a-d0e8-412d-b9b4-cfe3a5200e63 15ef34ec-aff2-4c0d-a8cf-9d725d670cab g.chr6:29141422delA ENST00000377167.2 + 1 112 c.10delA c.(10-12)aafs p.K5fs NM_030905.2 NP_112167.2 O76002 OR2J2_HUMAN olfactory receptor, family 2, subfamily J, member 2 5 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity endometrium(1)|kidney(2)|large_intestine(1)|liver(2)|lung(17)|ovary(1)|upper_aerodigestive_tract(1) 25 AATGATGATTAAAAAAAATGC 0.358 8 656 --- --- --- --- ZBTB22 0 broad.mit.edu 37 6 33283321 33283321 + Frame_Shift_Del DEL C C - TCGA-3A-A9IO-01A-11D-A38G-08 TCGA-3A-A9IO-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0f03781a-d0e8-412d-b9b4-cfe3a5200e63 15ef34ec-aff2-4c0d-a8cf-9d725d670cab g.chr6:33283321delC ENST00000431845.2 - 2 1524 c.1373delG c.(1372-1374)gcfs p.G458fs ZBTB22_ENST00000418724.1_Frame_Shift_Del_p.G458fs NM_005453.4 NP_005444.4 O15209 ZBT22_HUMAN zinc finger and BTB domain containing 22 458 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding breast(1)|central_nervous_system(1)|endometrium(3)|large_intestine(1)|lung(9)|ovary(2)|prostate(1)|urinary_tract(3) 21 CACCGACGTGCCCCCCACGGT 0.632 8 890 --- --- --- --- UHRF1BP1 54887 broad.mit.edu 37 6 34826124 34826124 + Frame_Shift_Del DEL T T - TCGA-3A-A9IO-01A-11D-A38G-08 TCGA-3A-A9IO-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0f03781a-d0e8-412d-b9b4-cfe3a5200e63 15ef34ec-aff2-4c0d-a8cf-9d725d670cab g.chr6:34826124delT ENST00000192788.5 + 14 2162 c.1991delT c.(1990-1992)ctfs p.L664fs UHRF1BP1_ENST00000452449.2_Frame_Shift_Del_p.L664fs NM_017754.3 NP_060224.3 Q6BDS2 URFB1_HUMAN UHRF1 binding protein 1 664 p.L666fs*15(1) breast(1)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(11)|lung(24)|ovary(3)|prostate(4)|skin(1)|upper_aerodigestive_tract(2) 54 CTGCACATGCTTTTTTTGCAT 0.502 7 644 --- --- --- --- TRAF3IP2 10758 broad.mit.edu 37 6 111880692 111880693 + Frame_Shift_Ins INS - - T TCGA-3A-A9IO-01A-11D-A38G-08 TCGA-3A-A9IO-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0f03781a-d0e8-412d-b9b4-cfe3a5200e63 15ef34ec-aff2-4c0d-a8cf-9d725d670cab g.chr6:111880692_111880693insT ENST00000368761.5 - 9 2091_2092 c.1613_1614insA c.(1612-1614)aatfs p.N538fs TRAF3IP2-AS1_ENST00000449449.2_RNA|TRAF3IP2_ENST00000392556.4_Frame_Shift_Ins_p.N126fs|TRAF3IP2_ENST00000359831.4_Frame_Shift_Ins_p.N537fs|TRAF3IP2-AS1_ENST00000456352.2_RNA|TRAF3IP2_ENST00000340026.6_Frame_Shift_Ins_p.N547fs|TRAF3IP2-AS1_ENST00000442928.2_RNA|TRAF3IP2-AS1_ENST00000532353.1_RNA|TRAF3IP2-AS1_ENST00000438298.2_RNA|TRAF3IP2-AS1_ENST00000440395.1_RNA|TRAF3IP2_ENST00000368735.1_Frame_Shift_Ins_p.N82fs|TRAF3IP2_ENST00000368731.2_5'UTR NM_001164281.2|NM_147686.3 NP_001157753.1|NP_679211.2 O43734 CIKS_HUMAN TRAF3 interacting protein 2 547 SEFIR. intracellular signal transduction|positive regulation of I-kappaB kinase/NF-kappaB cascade intracellular central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(3)|lung(5)|ovary(2)|prostate(1)|urinary_tract(1) 18 all_cancers(87;7.87e-06)|Acute lymphoblastic leukemia(125;3.61e-09)|all_hematologic(75;2.63e-07)|all_epithelial(87;0.0024)|Colorectal(196;0.021) OV - Ovarian serous cystadenocarcinoma(136;0.033)|all cancers(137;0.0412)|Epithelial(106;0.0732) GCAGCAGGATGTTTTTTTTATT 0.550 7 664 --- --- --- --- RFX6 222546 broad.mit.edu 37 6 117244332 117244332 + Frame_Shift_Del DEL T T - TCGA-3A-A9IO-01A-11D-A38G-08 TCGA-3A-A9IO-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0f03781a-d0e8-412d-b9b4-cfe3a5200e63 15ef34ec-aff2-4c0d-a8cf-9d725d670cab g.chr6:117244332delT ENST00000332958.2 + 14 1516 c.1500delT c.(1498-1500)agfs p.S500fs NM_173560.3 NP_775831.2 Q8HWS3 RFX6_HUMAN regulatory factor X, 6 500 glucose homeostasis|pancreatic A cell differentiation|pancreatic D cell differentiation|pancreatic E cell differentiation|positive regulation of transcription, DNA-dependent|regulation of insulin secretion|transcription, DNA-dependent|type B pancreatic cell differentiation nucleus protein binding|transcription regulatory region DNA binding cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(11)|lung(29)|ovary(1)|pancreas(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(1) 59 TAAAGTGGAGTTTTTTTGGTG 0.328 8 732 --- --- --- --- SOGA3 387104 broad.mit.edu 37 6 127804080 127804080 + Frame_Shift_Del DEL T T - rs34142169 TCGA-3A-A9IO-01A-11D-A38G-08 TCGA-3A-A9IO-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0f03781a-d0e8-412d-b9b4-cfe3a5200e63 15ef34ec-aff2-4c0d-a8cf-9d725d670cab g.chr6:127804080delT ENST00000556132.1 - 5 2399 c.1535delA c.(1534-1536)agfs p.K512fs SOGA3_ENST00000525778.1_Frame_Shift_Del_p.K512fs|SOGA3_ENST00000368268.2_Frame_Shift_Del_p.K512fs|SOGA3_ENST00000465909.2_Frame_Shift_Del_p.K512fs|SOGA3_ENST00000481848.2_Frame_Shift_Del_p.K512fs NM_001012279.2 NP_001012279.1 Q5TF21 CF174_HUMAN SOGA family member 3 512 integral to membrane CTGTTGAGCCTTTTTTTCAGA 0.294 7 1116 --- --- --- --- PHTF2 57157 broad.mit.edu 37 7 77569581 77569581 + Frame_Shift_Del DEL T T - TCGA-3A-A9IO-01A-11D-A38G-08 TCGA-3A-A9IO-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0f03781a-d0e8-412d-b9b4-cfe3a5200e63 15ef34ec-aff2-4c0d-a8cf-9d725d670cab g.chr7:77569581delT ENST00000416283.2 + 12 1726 c.1600delT c.(1600-1602)ttfs p.F535fs PHTF2_ENST00000275575.7_Frame_Shift_Del_p.F531fs|PHTF2_ENST00000248550.7_Frame_Shift_Del_p.F569fs|PHTF2_ENST00000307305.8_Frame_Shift_Del_p.F531fs|PHTF2_ENST00000424760.1_Frame_Shift_Del_p.F531fs|PHTF2_ENST00000422959.2_Frame_Shift_Del_p.F535fs NM_001127357.1|NM_020432.4 NP_001120829.1|NP_065165.3 Q8N3S3 PHTF2_HUMAN putative homeodomain transcription factor 2 569 regulation of transcription, DNA-dependent|transcription, DNA-dependent endoplasmic reticulum|nucleus DNA binding endometrium(2)|kidney(3)|large_intestine(3)|lung(9)|ovary(1)|prostate(1) 19 GTGGATTTTCTTTTTTTTGCT 0.303 8 682 --- --- --- --- CBLL1 79872 broad.mit.edu 37 7 107395909 107395909 + Frame_Shift_Del DEL A A - TCGA-3A-A9IO-01A-11D-A38G-08 TCGA-3A-A9IO-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0f03781a-d0e8-412d-b9b4-cfe3a5200e63 15ef34ec-aff2-4c0d-a8cf-9d725d670cab g.chr7:107395909delA ENST00000440859.2 + 5 880 c.413delA c.(412-414)gafs p.E138fs CBLL1_ENST00000415884.2_Intron|CBLL1_ENST00000222597.2_Frame_Shift_Del_p.E137fs NM_024814.2 NP_079090.2 Q75N03 HAKAI_HUMAN Cbl proto-oncogene-like 1, E3 ubiquitin protein ligase 138 cell-cell adhesion|negative regulation of cell adhesion|positive regulation of cell migration|positive regulation of endocytosis protein binding|ubiquitin-protein ligase activity|zinc ion binding endometrium(2)|large_intestine(2)|lung(9)|ovary(2)|prostate(3)|skin(3) 21 ATTTTACATGAAAAAAAGGGA 0.269 8 1265 --- --- --- --- ERICH1-AS1 0 broad.mit.edu 37 8 941911 941911 + RNA DEL T T - TCGA-3A-A9IO-01A-11D-A38G-08 TCGA-3A-A9IO-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0f03781a-d0e8-412d-b9b4-cfe3a5200e63 15ef34ec-aff2-4c0d-a8cf-9d725d670cab g.chr8:941911delT ENST00000524139.1 + 0 206 ERICH1-AS1_ENST00000578889.1_RNA|ERICH1-AS1_ENST00000522092.1_RNA GTTCCTGTTCTTCTCTCCCTC 0.622 2 4 --- --- --- --- SFTPC 6440 broad.mit.edu 37 8 22021060 22021061 + Frame_Shift_Del DEL GT GT - TCGA-3A-A9IO-01A-11D-A38G-08 TCGA-3A-A9IO-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0f03781a-d0e8-412d-b9b4-cfe3a5200e63 15ef34ec-aff2-4c0d-a8cf-9d725d670cab g.chr8:22021060_22021061delGT ENST00000522109.1 + 4 460_461 c.436_437delGT c.(436-438)gfs p.V146fs SFTPC_ENST00000521315.1_Splice_Site|SFTPC_ENST00000520605.1_Splice_Site|SFTPC_ENST00000318561.3_Splice_Site|SFTPC_ENST00000437090.2_Splice_Site|SFTPC_ENST00000524255.1_Splice_Site P11686 PSPC_HUMAN surfactant protein C 146 BRICHOS. respiratory gaseous exchange extracellular space p.M146fs*41(1) autonomic_ganglia(1)|large_intestine(1)|lung(1) 3 Colorectal(74;0.00191)|COAD - Colon adenocarcinoma(73;0.0615)|READ - Rectum adenocarcinoma(644;0.1) CAACTTCCAGGTGTGTGTGTGT 0.545 9 215 --- --- --- --- LOXL2 4017 broad.mit.edu 37 8 23167294 23167294 + Frame_Shift_Del DEL G G - TCGA-3A-A9IO-01A-11D-A38G-08 TCGA-3A-A9IO-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0f03781a-d0e8-412d-b9b4-cfe3a5200e63 15ef34ec-aff2-4c0d-a8cf-9d725d670cab g.chr8:23167294delG ENST00000389131.3 - 10 2136 c.1767delC c.(1765-1767)ccfs p.P589fs NM_002318.2 NP_002309.1 Q9Y4K0 LOXL2_HUMAN lysyl oxidase-like 2 589 Lysyl-oxidase like. aging|cell adhesion|protein modification process extracellular space|membrane copper ion binding|electron carrier activity|oxidoreductase activity, acting on the CH-NH2 group of donors, oxygen as acceptor|scavenger receptor activity breast(2)|endometrium(4)|kidney(3)|large_intestine(12)|lung(5)|ovary(2)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 35 Prostate(55;0.0453)|Breast(100;0.143) Colorectal(74;0.0288)|COAD - Colon adenocarcinoma(73;0.096) AGCCCGTGGTGGGGTCGGTCT 0.662 8 159 --- --- --- --- GTF2E2 2961 broad.mit.edu 37 8 30511012 30511014 + In_Frame_Del DEL GAT GAT - rs113662547 TCGA-3A-A9IO-01A-11D-A38G-08 TCGA-3A-A9IO-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0f03781a-d0e8-412d-b9b4-cfe3a5200e63 15ef34ec-aff2-4c0d-a8cf-9d725d670cab g.chr8:30511012_30511014delGAT ENST00000355904.4 - 2 384_386 c.102_104delATC c.(100-105)tcg>tc p.SS34del NM_002095.4 NP_002086.1 P29084 T2EB_HUMAN general transcription factor IIE, polypeptide 2, beta 34kDa 34 Poly-Ser. regulation of transcription, DNA-dependent|transcription elongation from RNA polymerase II promoter|transcription initiation from RNA polymerase II promoter|viral reproduction transcription factor TFIIE complex DNA binding|protein binding endometrium(2)|kidney(2)|large_intestine(1)|lung(4)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 12 KIRC - Kidney renal clear cell carcinoma(542;0.113)|Kidney(114;0.135) CTTCTTTGACGATGATGATGATG 0.384 7 785 --- --- --- --- WHSC1L1 54904 broad.mit.edu 37 8 38205092 38205092 + Frame_Shift_Del DEL T T - TCGA-3A-A9IO-01A-11D-A38G-08 TCGA-3A-A9IO-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0f03781a-d0e8-412d-b9b4-cfe3a5200e63 15ef34ec-aff2-4c0d-a8cf-9d725d670cab g.chr8:38205092delT ENST00000317025.8 - 2 1115 c.598delA c.(598-600)gcfs p.S200fs WHSC1L1_ENST00000316985.3_Frame_Shift_Del_p.S200fs|WHSC1L1_ENST00000527502.1_Frame_Shift_Del_p.S200fs|WHSC1L1_ENST00000433384.2_Frame_Shift_Del_p.S200fs NM_023034.1 NP_075447.1 Q9BZ95 NSD3_HUMAN Wolf-Hirschhorn syndrome candidate 1-like 1 200 cell differentiation|cell growth|regulation of transcription, DNA-dependent|transcription, DNA-dependent chromosome histone-lysine N-methyltransferase activity|zinc ion binding NS(1)|breast(2)|endometrium(3)|kidney(3)|large_intestine(2)|lung(10)|ovary(1)|skin(1)|upper_aerodigestive_tract(1) 24 Colorectal(12;0.000442)|Esophageal squamous(3;0.0725) all_lung(54;0.00787)|Lung NSC(58;0.0295)|Hepatocellular(245;0.065) Epithelial(3;3.12e-43)|all cancers(3;1.72e-38)|BRCA - Breast invasive adenocarcinoma(5;2.84e-27)|LUSC - Lung squamous cell carcinoma(2;2.79e-25)|Lung(2;5.03e-23)|COAD - Colon adenocarcinoma(9;0.0511) TGCTTGTTGCTTTTTTTCCTC 0.378 T NUP98 AML 9 1241 --- --- --- --- TOX 9760 broad.mit.edu 37 8 59750796 59750798 + In_Frame_Del DEL CTT CTT - TCGA-3A-A9IO-01A-11D-A38G-08 TCGA-3A-A9IO-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0f03781a-d0e8-412d-b9b4-cfe3a5200e63 15ef34ec-aff2-4c0d-a8cf-9d725d670cab g.chr8:59750796_59750798delCTT ENST00000361421.1 - 5 986_988 c.766_768delAAG c.(766-768)del p.K256del NM_014729.2 NP_055544.1 O94900 TOX_HUMAN thymocyte selection-associated high mobility group box 256 nucleus DNA binding endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(11)|lung(13)|prostate(1)|skin(2)|stomach(1) 33 all_cancers(86;0.165)|Myeloproliferative disorder(644;0.00452)|all_lung(136;0.036)|Lung NSC(129;0.0464)|all_epithelial(80;0.0607) CATTGGGATCCTTCTTCTTCTTC 0.453 8 849 --- --- --- --- CHD7 55636 broad.mit.edu 37 8 61769038 61769040 + In_Frame_Del DEL GGA GGA - TCGA-3A-A9IO-01A-11D-A38G-08 TCGA-3A-A9IO-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0f03781a-d0e8-412d-b9b4-cfe3a5200e63 15ef34ec-aff2-4c0d-a8cf-9d725d670cab g.chr8:61769038_61769040delGGA ENST00000423902.2 + 34 7678_7680 c.7199_7201delGGA c.(7198-7203)cgg>c p.RR2404del CHD7_ENST00000529472.1_3'UTR|CHD7_ENST00000524602.1_Intron NM_017780.3 NP_060250.2 Q9P2D1 CHD7_HUMAN chromodomain helicase DNA binding protein 7 2404 Poly-Arg. central nervous system development|chromatin modification|cognition|cranial nerve development|face development|heart morphogenesis|in utero embryonic development|inner ear morphogenesis|nose development|palate development|regulation of growth hormone secretion|regulation of transcription, DNA-dependent|retina development in camera-type eye|skeletal system development|T cell differentiation|transcription, DNA-dependent nucleus ATP binding|chromatin binding|DNA binding|helicase activity NS(1)|breast(6)|central_nervous_system(8)|cervix(2)|endometrium(16)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(16)|lung(49)|ovary(4)|pancreas(2)|prostate(4)|skin(2)|urinary_tract(3) 123 all_cancers(86;0.2)|all_lung(136;0.0402)|Lung NSC(129;0.0459)|all_epithelial(80;0.0477) BRCA - Breast invasive adenocarcinoma(89;0.143) CCTCGCCAGCGGAGGAGGAGGAG 0.512 8 148 --- --- --- --- ESRP1 54845 broad.mit.edu 37 8 95686610 95686611 + Frame_Shift_Ins INS - - A TCGA-3A-A9IO-01A-11D-A38G-08 TCGA-3A-A9IO-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0f03781a-d0e8-412d-b9b4-cfe3a5200e63 15ef34ec-aff2-4c0d-a8cf-9d725d670cab g.chr8:95686610_95686611insA ENST00000433389.2 + 12 1717_1718 c.1527_1528insA c.(1525-1530)caaaaafs p.QK509fs ESRP1_ENST00000423620.2_Frame_Shift_Ins_p.QK509fs|ESRP1_ENST00000358397.5_Frame_Shift_Ins_p.QK509fs|ESRP1_ENST00000454170.2_Frame_Shift_Ins_p.QK509fs NM_001034915.2|NM_017697.3 NP_001030087.2|NP_060167.2 Q6NXG1 ESRP1_HUMAN epithelial splicing regulatory protein 1 509 RRM 3. mRNA processing|regulation of RNA splicing|RNA splicing nucleus|plasma membrane mRNA binding|nucleotide binding p.N512fs*8(2) ESRP1/RAF1(4) NS(1)|central_nervous_system(1)|endometrium(6)|kidney(1)|large_intestine(2)|lung(6)|prostate(1)|urinary_tract(2) 20 AGAAGTGTCATAAAAAAAACAT 0.436 7 383 --- --- --- --- TAF1L 138474 broad.mit.edu 37 9 32633584 32633584 + Frame_Shift_Del DEL T T - TCGA-3A-A9IO-01A-11D-A38G-08 TCGA-3A-A9IO-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0f03781a-d0e8-412d-b9b4-cfe3a5200e63 15ef34ec-aff2-4c0d-a8cf-9d725d670cab g.chr9:32633584delT ENST00000242310.4 - 1 2083 c.1994delA c.(1993-1995)agfs p.K665fs RP11-555J4.4_ENST00000430787.1_RNA NM_153809.2 NP_722516.1 Q8IZX4 TAF1L_HUMAN TAF1 RNA polymerase II, TATA box binding protein (TBP)-associated factor, 210kDa-like 665 male meiosis|positive regulation of transcription, DNA-dependent|regulation of transcription from RNA polymerase II promoter|transcription initiation, DNA-dependent transcription factor TFIID complex DNA binding|histone acetyltransferase activity|protein serine/threonine kinase activity|TBP-class protein binding p.K665fs*4(2) breast(6)|central_nervous_system(4)|endometrium(14)|kidney(11)|large_intestine(32)|liver(2)|lung(68)|ovary(2)|pancreas(2)|prostate(7)|skin(9)|stomach(1)|upper_aerodigestive_tract(1) 159 LUSC - Lung squamous cell carcinoma(29;0.0181) GBM - Glioblastoma multiforme(74;0.00301) CATCTTGGCCTTTTTTTTGAT 0.478 10 576 --- --- --- --- KIAA1217 56243 broad.mit.edu 37 10 24822125 24822127 + In_Frame_Del DEL GAA GAA - TCGA-3A-A9IO-01A-11D-A38G-08 TCGA-3A-A9IO-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0f03781a-d0e8-412d-b9b4-cfe3a5200e63 15ef34ec-aff2-4c0d-a8cf-9d725d670cab g.chr10:24822125_24822127delGAA ENST00000376451.2 + 11 2682_2684 c.2422_2424delGAA c.(2422-2424)del p.E812del KIAA1217_ENST00000396445.1_In_Frame_Del_p.E812del|KIAA1217_ENST00000376462.1_In_Frame_Del_p.E1049del|KIAA1217_ENST00000307544.6_In_Frame_Del_p.E812del|KIAA1217_ENST00000376452.3_In_Frame_Del_p.E1093del|KIAA1217_ENST00000376454.3_In_Frame_Del_p.E1129del|KIAA1217_ENST00000458595.1_In_Frame_Del_p.E1094del|KIAA1217_ENST00000396446.1_In_Frame_Del_p.E812del Q5T5P2 SKT_HUMAN KIAA1217 1129 embryonic skeletal system development cytoplasm breast(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(4)|kidney(3)|large_intestine(19)|lung(19)|ovary(5)|prostate(3)|skin(3)|urinary_tract(1) 70 GGATGAGGAGGAAGAAGAAGAAG 0.552 7 462 --- --- --- --- RP11-192P3.4 0 broad.mit.edu 37 10 31498549 31498550 + RNA DEL TG TG - rs2785512 by1000genomes TCGA-3A-A9IO-01A-11D-A38G-08 TCGA-3A-A9IO-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0f03781a-d0e8-412d-b9b4-cfe3a5200e63 15ef34ec-aff2-4c0d-a8cf-9d725d670cab g.chr10:31498549_31498550delTG ENST00000605929.1 + 0 317 ZEB1-AS1_ENST00000605946.1_RNA CTGCCCGCCCTGCCCCCGCCCC 0.569 3 4 --- --- --- --- ANK3 288 broad.mit.edu 37 10 61831289 61831290 + Frame_Shift_Ins INS - - T rs28932171 byFrequency TCGA-3A-A9IO-01A-11D-A38G-08 TCGA-3A-A9IO-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0f03781a-d0e8-412d-b9b4-cfe3a5200e63 15ef34ec-aff2-4c0d-a8cf-9d725d670cab g.chr10:61831289_61831290insT ENST00000280772.1 - 37 9540_9541 c.9349_9350insA c.(9349-9351)catfs p.H3117fs ANK3_ENST00000503366.1_Intron|ANK3_ENST00000355288.2_Intron|ANK3_ENST00000373827.2_Intron NM_020987.3 NP_066267.2 Q12955 ANK3_HUMAN ankyrin 3, node of Ranvier (ankyrin G) 3117 I -> V (in dbSNP:rs28932171). establishment of protein localization|signal transduction basolateral plasma membrane|cytoplasm|cytoskeleton protein binding NS(4)|breast(7)|central_nervous_system(5)|endometrium(19)|haematopoietic_and_lymphoid_tissue(5)|kidney(14)|large_intestine(30)|liver(2)|lung(59)|ovary(8)|pancreas(2)|prostate(5)|skin(26)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(7) 196 CTGACTTATGATTTTTTTTACA 0.401 11 984 --- --- --- --- TBC1D12 23232 broad.mit.edu 37 10 96281817 96281817 + Frame_Shift_Del DEL T T - TCGA-3A-A9IO-01A-11D-A38G-08 TCGA-3A-A9IO-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0f03781a-d0e8-412d-b9b4-cfe3a5200e63 15ef34ec-aff2-4c0d-a8cf-9d725d670cab g.chr10:96281817delT ENST00000225235.4 + 10 1977 c.1867delT c.(1867-1869)ttfs p.F624fs TBC1D12_ENST00000485048.1_Intron NM_015188.1 NP_056003.1 O60347 TBC12_HUMAN TBC1 domain family, member 12 624 Rab-GAP TBC. intracellular Rab GTPase activator activity breast(1)|central_nervous_system(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(5)|upper_aerodigestive_tract(2) 20 Colorectal(252;0.0429) CCAGTTGGCCTTTTTTCGTGT 0.418 10 1078 --- --- --- --- INA 9118 broad.mit.edu 37 10 105048271 105048273 + In_Frame_Del DEL GAG GAG - TCGA-3A-A9IO-01A-11D-A38G-08 TCGA-3A-A9IO-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0f03781a-d0e8-412d-b9b4-cfe3a5200e63 15ef34ec-aff2-4c0d-a8cf-9d725d670cab g.chr10:105048271_105048273delGAG ENST00000369849.4 + 3 1394_1396 c.1345_1347delGAG c.(1345-1347)del p.E454del NM_032727.3 NP_116116.1 Q16352 AINX_HUMAN internexin neuronal intermediate filament protein, alpha 454 Poly-Glu.|Tail. cell differentiation|nervous system development neurofilament structural constituent of cytoskeleton p.E449_E450delEE(1) breast(2)|endometrium(2)|large_intestine(2)|lung(4)|ovary(1)|prostate(2) 13 Epithelial(162;3.45e-09)|all cancers(201;9.17e-08)|BRCA - Breast invasive adenocarcinoma(275;0.198) ACTTAAGAAAGAGGAGGAGGAGG 0.458 14 573 --- --- --- --- MKI67 4288 broad.mit.edu 37 10 129913974 129913974 + Frame_Shift_Del DEL T T - TCGA-3A-A9IO-01A-11D-A38G-08 TCGA-3A-A9IO-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0f03781a-d0e8-412d-b9b4-cfe3a5200e63 15ef34ec-aff2-4c0d-a8cf-9d725d670cab g.chr10:129913974delT ENST00000368654.3 - 7 1073 c.698delA c.(697-699)atfs p.N233fs MKI67_ENST00000368653.3_Intron NM_002417.4 NP_002408.3 P46013 KI67_HUMAN marker of proliferation Ki-67 233 cell proliferation nucleolus ATP binding|protein C-terminus binding NS(2)|autonomic_ganglia(1)|breast(2)|central_nervous_system(2)|cervix(2)|endometrium(14)|haematopoietic_and_lymphoid_tissue(5)|kidney(7)|large_intestine(30)|lung(64)|ovary(4)|pancreas(1)|prostate(4)|skin(2)|soft_tissue(1)|stomach(10)|upper_aerodigestive_tract(4)|urinary_tract(4) 159 all_epithelial(44;2.12e-05)|all_lung(145;0.00679)|Lung NSC(174;0.00998)|all_neural(114;0.0936)|Colorectal(57;0.14)|Breast(234;0.166)|Melanoma(40;0.203) GGGAGATTCATTTTTTTTGCT 0.343 7 528 --- --- --- --- PSMA1 5682 broad.mit.edu 37 11 14529252 14529254 + In_Frame_Del DEL CAT CAT - TCGA-3A-A9IO-01A-11D-A38G-08 TCGA-3A-A9IO-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0f03781a-d0e8-412d-b9b4-cfe3a5200e63 15ef34ec-aff2-4c0d-a8cf-9d725d670cab g.chr11:14529252_14529254delCAT ENST00000530457.1 - 9 1138_1140 c.608_610delATG c.(607-612)gtg>g p.DV203del PSMA1_ENST00000555531.1_3'UTR|PSMA1_ENST00000524606.1_5'UTR|PSMA1_ENST00000419365.2_3'UTR|PSMA1_ENST00000396394.2_In_Frame_Del_p.DV228del|PSMA1_ENST00000418988.2_In_Frame_Del_p.DV234del|PSMA1_ENST00000396393.1_In_Frame_Del_p.DV228del P25786 PSA1_HUMAN proteasome (prosome, macropain) subunit, alpha type, 1 228 anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|G1/S transition of mitotic cell cycle|M/G1 transition of mitotic cell cycle|mRNA metabolic process|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|regulation of apoptosis|regulation of cellular amino acid metabolic process|S phase of mitotic cell cycle|viral reproduction cytoplasm|nucleus|polysome|proteasome core complex, alpha-subunit complex protein binding|RNA binding|threonine-type endopeptidase activity large_intestine(1)|skin(1)|upper_aerodigestive_tract(1) 3 AATGGAGACACATCATCATCATC 0.360 7 634 --- --- --- --- TSGA10IP 254187 broad.mit.edu 37 11 65715748 65715751 + RNA DEL CATC CATC - rs585897 TCGA-3A-A9IO-01A-11D-A38G-08 TCGA-3A-A9IO-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0f03781a-d0e8-412d-b9b4-cfe3a5200e63 15ef34ec-aff2-4c0d-a8cf-9d725d670cab g.chr11:65715748_65715751delCATC ENST00000532620.1 + 0 1382 Q3SY00 T10IP_HUMAN testis specific, 10 interacting protein endometrium(2)|kidney(3)|lung(9) 14 ACTTTTGGATcatccatccatcca 0.422 4 9 --- --- --- --- DDX10 1662 broad.mit.edu 37 11 108788635 108788637 + In_Frame_Del DEL TGA TGA - TCGA-3A-A9IO-01A-11D-A38G-08 TCGA-3A-A9IO-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0f03781a-d0e8-412d-b9b4-cfe3a5200e63 15ef34ec-aff2-4c0d-a8cf-9d725d670cab g.chr11:108788635_108788637delTGA ENST00000526794.1 + 17 2372_2374 c.2340_2342delTGA c.(2338-2343)agt>ag p.SD780del DDX10_ENST00000322536.3_In_Frame_Del_p.SD780del Q13206 DDX10_HUMAN DEAD (Asp-Glu-Ala-Asp) box polypeptide 10 780 ATP binding|ATP-dependent helicase activity|RNA binding|RNA helicase activity breast(2)|endometrium(5)|kidney(2)|large_intestine(4)|lung(11)|pancreas(1)|prostate(2) 27 all_cancers(61;1.29e-11)|all_epithelial(67;2.96e-07)|Melanoma(852;1.54e-05)|Acute lymphoblastic leukemia(157;4.24e-05)|all_hematologic(158;0.000141)|Breast(348;0.026)|all_neural(223;0.0729) BRCA - Breast invasive adenocarcinoma(274;2.48e-05)|Epithelial(105;4.35e-05)|all cancers(92;0.000609)|OV - Ovarian serous cystadenocarcinoma(223;0.133) TGGATTGGAGtgatgatgatgat 0.355 T NUP98 AML* 9 382 --- --- --- --- CBL 867 broad.mit.edu 37 11 119149356 119149358 + In_Frame_Del DEL ATG ATG - TCGA-3A-A9IO-01A-11D-A38G-08 TCGA-3A-A9IO-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0f03781a-d0e8-412d-b9b4-cfe3a5200e63 15ef34ec-aff2-4c0d-a8cf-9d725d670cab g.chr11:119149356_119149358delATG ENST00000264033.4 + 9 1740_1742 c.1364_1366delATG c.(1363-1368)tat>t p.YD455del NM_005188.3 NP_005179.2 P22681 CBL_HUMAN Cbl proto-oncogene, E3 ubiquitin protein ligase 455 Asp/Glu-rich (acidic). epidermal growth factor receptor signaling pathway|negative regulation of apoptosis|negative regulation of epidermal growth factor receptor signaling pathway|positive regulation of phosphatidylinositol 3-kinase cascade|positive regulation of receptor-mediated endocytosis cytosol|nucleus calcium ion binding|sequence-specific DNA binding transcription factor activity|SH3 domain binding|signal transducer activity|ubiquitin-protein ligase activity|zinc ion binding p.E366_K477del(1) breast(2)|central_nervous_system(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(194)|kidney(3)|large_intestine(9)|lung(30)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|urinary_tract(1) 251 Medulloblastoma(222;0.0425)|Breast(348;0.052)|all_neural(223;0.112) BRCA - Breast invasive adenocarcinoma(274;4.92e-05)|OV - Ovarian serous cystadenocarcinoma(223;0.000784) TCCCCAAATTATGATGATGATGA 0.473 """T, Mis S, O""" MLL """AML, JMML, MDS""" Noonan syndrome;CBL gene-associated Juvenile Myelomonocytic Leukemia and Developmental Anomalies 8 245 --- --- --- --- FAR2 55711 broad.mit.edu 37 12 29450110 29450110 + Frame_Shift_Del DEL A A - TCGA-3A-A9IO-01A-11D-A38G-08 TCGA-3A-A9IO-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0f03781a-d0e8-412d-b9b4-cfe3a5200e63 15ef34ec-aff2-4c0d-a8cf-9d725d670cab g.chr12:29450110delA ENST00000182377.4 + 4 790 c.522delA c.(520-522)ccfs p.P174fs RP11-996F15.2_ENST00000553105.1_RNA|FAR2_ENST00000536681.2_Frame_Shift_Del_p.P174fs|FAR2_ENST00000547116.1_Frame_Shift_Del_p.P77fs NM_018099.3 NP_060569.3 Q96K12 FACR2_HUMAN fatty acyl CoA reductase 2 174 ether lipid biosynthetic process endoplasmic reticulum membrane|integral to membrane|peroxisomal matrix|peroxisomal membrane binding|oxidoreductase activity, acting on the aldehyde or oxo group of donors, NAD or NADP as acceptor central_nervous_system(1)|endometrium(3)|large_intestine(6)|liver(2)|lung(15)|prostate(1)|stomach(1) 29 CTGTGGAGCCAAAAAAAATCA 0.388 12 720 --- --- --- --- RP11-551L14.1 0 broad.mit.edu 37 12 31269805 31269806 + RNA INS - - AAG rs67001718 TCGA-3A-A9IO-01A-11D-A38G-08 TCGA-3A-A9IO-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0f03781a-d0e8-412d-b9b4-cfe3a5200e63 15ef34ec-aff2-4c0d-a8cf-9d725d670cab g.chr12:31269805_31269806insAAG ENST00000542490.1 - 0 52 central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(2)|lung(25)|prostate(3)|stomach(3)|urinary_tract(1) 41 CAATATTCCTCAAACTTCTCTT 0.307 6 12 --- --- --- --- RP11-609L23.1 0 broad.mit.edu 37 12 43018865 43018867 + RNA DEL TTC TTC - TCGA-3A-A9IO-01A-11D-A38G-08 TCGA-3A-A9IO-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0f03781a-d0e8-412d-b9b4-cfe3a5200e63 15ef34ec-aff2-4c0d-a8cf-9d725d670cab g.chr12:43018865_43018867delTTC ENST00000550337.1 - 0 752 ctcttcttctttcttcttcttct 0.453 8 45 --- --- --- --- TMTC3 160418 broad.mit.edu 37 12 88566417 88566417 + Frame_Shift_Del DEL T T - TCGA-3A-A9IO-01A-11D-A38G-08 TCGA-3A-A9IO-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0f03781a-d0e8-412d-b9b4-cfe3a5200e63 15ef34ec-aff2-4c0d-a8cf-9d725d670cab g.chr12:88566417delT ENST00000266712.6 + 8 1314 c.1094delT c.(1093-1095)ctfs p.L365fs NM_181783.3 NP_861448.2 Q6ZXV5 TMTC3_HUMAN transmembrane and tetratricopeptide repeat containing 3 365 integral to membrane binding NS(1)|breast(2)|endometrium(1)|kidney(4)|large_intestine(5)|liver(1)|lung(12)|prostate(4)|skin(1) 31 GCATCGAACCTTTTTTTTCCA 0.313 9 944 --- --- --- --- DDX55 57696 broad.mit.edu 37 12 124103201 124103202 + Translation_Start_Site DEL TG TG - TCGA-3A-A9IO-01A-11D-A38G-08 TCGA-3A-A9IO-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0f03781a-d0e8-412d-b9b4-cfe3a5200e63 15ef34ec-aff2-4c0d-a8cf-9d725d670cab g.chr12:124103201_124103202delTG ENST00000421670.3 + 0 639_640 DDX55_ENST00000541259.1_Intron|DDX55_ENST00000538744.1_Intron|DDX55_ENST00000238146.4_Intron Q8NHQ9 DDX55_HUMAN DEAD (Asp-Glu-Ala-Asp) box polypeptide 55 ATP binding|ATP-dependent helicase activity|RNA binding autonomic_ganglia(1)|breast(1)|endometrium(1)|large_intestine(3)|liver(1)|lung(4)|ovary(1)|prostate(1)|skin(1) 14 all_neural(191;0.101)|Medulloblastoma(191;0.163) OV - Ovarian serous cystadenocarcinoma(86;0.000142)|Epithelial(86;0.000637)|all cancers(50;0.00772) GAATGTGGTATGTGTGTGTGTG 0.520 OREG0022230 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 9 253 --- --- --- --- BRCA2 675 broad.mit.edu 37 13 32907421 32907421 + Frame_Shift_Del DEL A A - rs80359307 TCGA-3A-A9IO-01A-11D-A38G-08 TCGA-3A-A9IO-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0f03781a-d0e8-412d-b9b4-cfe3a5200e63 15ef34ec-aff2-4c0d-a8cf-9d725d670cab g.chr13:32907421delA ENST00000544455.1 + 10 2033 c.1806delA c.(1804-1806)ggfs p.G602fs BRCA2_ENST00000380152.3_Frame_Shift_Del_p.G602fs NM_000059.3 NP_000050.2 P51587 BRCA2_HUMAN breast cancer 2, early onset 602 cell cycle cytokinesis|centrosome duplication|double-strand break repair via homologous recombination|negative regulation of mammary gland epithelial cell proliferation|nucleotide-excision repair|positive regulation of transcription, DNA-dependent|regulation of S phase of mitotic cell cycle BRCA2-MAGE-D1 complex|centrosome|nucleoplasm|stored secretory granule gamma-tubulin binding|H3 histone acetyltransferase activity|H4 histone acetyltransferase activity|protease binding|single-stranded DNA binding NS(3)|breast(13)|central_nervous_system(5)|cervix(2)|endometrium(24)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(32)|liver(1)|lung(41)|oesophagus(5)|ovary(22)|pancreas(4)|prostate(3)|salivary_gland(1)|skin(11)|upper_aerodigestive_tract(2)|urinary_tract(3) 183 Lung SC(185;0.0262) all cancers(112;7.13e-07)|Epithelial(112;1.59e-05)|OV - Ovarian serous cystadenocarcinoma(117;0.000732)|BRCA - Breast invasive adenocarcinoma(63;0.0291)|GBM - Glioblastoma multiforme(144;0.0704) CTTATAAAGGAAAAAAAATAC 0.303 """D, Mis, N, F, S""" """breast, ovarian, pancreatic""" """breast, ovarian, pancreatic, leukemia (FANCB, FANCD1)""" Homologous recombination Pancreatic Cancer, Familial Clustering of;Li-Fraumeni syndrome;Hereditary Prostate Cancer;Hereditary Breast-Ovarian Cancer, BRCA2 type;Fanconi Anemia type D1, bi-allelic BRCA2 mutations;Fanconi Anemia TCGA Ovarian(8;0.087) 7 428 --- --- --- --- KIAA1704 0 broad.mit.edu 37 13 45580365 45580367 + In_Frame_Del DEL GAT GAT - rs138421508 TCGA-3A-A9IO-01A-11D-A38G-08 TCGA-3A-A9IO-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0f03781a-d0e8-412d-b9b4-cfe3a5200e63 15ef34ec-aff2-4c0d-a8cf-9d725d670cab g.chr13:45580365_45580367delGAT ENST00000361121.2 + 3 285_287 c.250_252delGAT c.(250-252)del p.D88del RP11-321C24.1_ENST00000437748.2_lincRNA|KIAA1704_ENST00000357537.3_De_novo_Start_InFrame|KIAA1704_ENST00000379151.4_In_Frame_Del_p.D88del Q8IXQ4 K1704_HUMAN 88 Poly-Asp. breast(1)|endometrium(1)|kidney(2)|large_intestine(3)|lung(1)|pancreas(1)|prostate(2)|skin(1) 12 Lung NSC(96;0.00143)|Prostate(109;0.0137)|Breast(139;0.0192)|Lung SC(185;0.0367)|Hepatocellular(98;0.133) KIRC - Kidney renal clear cell carcinoma(16;0.234) GBM - Glioblastoma multiforme(144;0.000313)|BRCA - Breast invasive adenocarcinoma(63;0.126) Ggatgatgacgatgatgatgatg 0.335 18 1169 --- --- --- --- ESD 2098 broad.mit.edu 37 13 47354112 47354112 + Frame_Shift_Del DEL T T - TCGA-3A-A9IO-01A-11D-A38G-08 TCGA-3A-A9IO-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0f03781a-d0e8-412d-b9b4-cfe3a5200e63 15ef34ec-aff2-4c0d-a8cf-9d725d670cab g.chr13:47354112delT ENST00000378720.3 - 8 740 c.558delA c.(556-558)aafs p.K186fs ESD_ENST00000378697.1_Frame_Shift_Del_p.K157fs|ESD_ENST00000495654.1_5'UTR NM_001984.1 NP_001975.1 P10768 ESTD_HUMAN esterase D 186 cytoplasmic membrane-bounded vesicle carboxylesterase activity|S-formylglutathione hydrolase activity endometrium(1)|kidney(2)|large_intestine(1)|lung(4)|ovary(1) 9 all_lung(13;3.54e-08)|Lung NSC(96;9.1e-06)|Breast(56;0.000148)|Prostate(109;0.0029)|Lung SC(185;0.0367)|Myeloproliferative disorder(33;0.0505)|Hepatocellular(98;0.0556) GBM - Glioblastoma multiforme(144;2.66e-05) Glutathione(DB00143) CACTAAAGGCTTTTTTGCCCC 0.353 9 860 --- --- --- --- FBXL3 26224 broad.mit.edu 37 13 77581683 77581683 + Frame_Shift_Del DEL A A - TCGA-3A-A9IO-01A-11D-A38G-08 TCGA-3A-A9IO-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0f03781a-d0e8-412d-b9b4-cfe3a5200e63 15ef34ec-aff2-4c0d-a8cf-9d725d670cab g.chr13:77581683delA ENST00000355619.5 - 5 1208 c.884delT c.(883-885)tafs p.L295fs FBXL3_ENST00000477982.1_Intron NM_012158.2 NP_036290.1 Q9UKT7 FBXL3_HUMAN F-box and leucine-rich repeat protein 3 295 regulation of circadian rhythm|rhythmic process|SCF-dependent proteasomal ubiquitin-dependent protein catabolic process cytoplasm|nucleus|SCF ubiquitin ligase complex protein binding|ubiquitin-protein ligase activity p.L295fs*3(1) breast(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(5)|urinary_tract(1) 16 Breast(118;0.212)|Acute lymphoblastic leukemia(28;0.218) GBM - Glioblastoma multiforme(99;0.0521) TTCTTCATATAAAAAAAAATA 0.418 10 418 --- --- --- --- LAMP1 3916 broad.mit.edu 37 13 113964154 113964154 + Frame_Shift_Del DEL T T - TCGA-3A-A9IO-01A-11D-A38G-08 TCGA-3A-A9IO-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0f03781a-d0e8-412d-b9b4-cfe3a5200e63 15ef34ec-aff2-4c0d-a8cf-9d725d670cab g.chr13:113964154delT ENST00000332556.4 + 3 574 c.380delT c.(379-381)ctfs p.L127fs LAMP1_ENST00000397181.3_Frame_Shift_Del_p.L127fs NM_005561.3 NP_005552.3 P11279 LAMP1_HUMAN lysosomal-associated membrane protein 1 127 First lumenal domain. endosome membrane|integral to plasma membrane|lysosomal membrane|membrane fraction NS(1)|central_nervous_system(2)|endometrium(3)|large_intestine(4)|lung(2)|prostate(1)|skin(1)|stomach(2) 16 Lung NSC(43;0.0161)|all_neural(89;0.0804)|Hepatocellular(20;0.0877)|Medulloblastoma(90;0.163)|Lung SC(71;0.218) all_cancers(25;0.0482)|all_epithelial(44;0.0148)|all_lung(25;0.0271)|Lung NSC(25;0.0977)|Breast(118;0.188) all cancers(43;0.025)|GBM - Glioblastoma multiforme(44;0.206)|Epithelial(84;0.246) GACACACACCTTTTCCCCAAT 0.408 8 1052 --- --- --- --- DPPA3P2 0 broad.mit.edu 37 14 36841115 36841115 + RNA DEL T T - TCGA-3A-A9IO-01A-11D-A38G-08 TCGA-3A-A9IO-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0f03781a-d0e8-412d-b9b4-cfe3a5200e63 15ef34ec-aff2-4c0d-a8cf-9d725d670cab g.chr14:36841115delT ENST00000557188.1 + 0 746 TTCTTGCACCTTTTTTTCTTG 0.358 8 793 --- --- --- --- RP11-407N17.3 0 broad.mit.edu 37 14 39746242 39746243 + Frame_Shift_Ins INS - - T rs75842899 byFrequency TCGA-3A-A9IO-01A-11D-A38G-08 TCGA-3A-A9IO-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0f03781a-d0e8-412d-b9b4-cfe3a5200e63 15ef34ec-aff2-4c0d-a8cf-9d725d670cab g.chr14:39746242_39746243insT ENST00000553728.1 + 6 1986_1987 c.1773_1774insT c.(1771-1776)ctttttfs p.LF591fs CTAGE5_ENST00000396158.2_Frame_Shift_Ins_p.LF56fs|CTAGE5_ENST00000556148.1_Intron|CTAGE5_ENST00000341502.5_Frame_Shift_Ins_p.LF56fs|CTAGE5_ENST00000341749.3_Frame_Shift_Ins_p.LF44fs|CTAGE5_ENST00000348007.3_Frame_Shift_Ins_p.LF56fs|CTAGE5_ENST00000280083.3_Frame_Shift_Ins_p.LF56fs|CTAGE5_ENST00000396165.4_Frame_Shift_Ins_p.LF27fs|CTAGE5_ENST00000557038.1_5'UTR|RP11-407N17.3_ENST00000603904.1_Frame_Shift_Ins_p.LF27fs|CTAGE5_ENST00000553352.1_Frame_Shift_Ins_p.LF27fs TTGCTGTTCTCTTTTTTTTGTG 0.371 9 527 --- --- --- --- PTPN21 11099 broad.mit.edu 37 14 88940113 88940113 + Frame_Shift_Del DEL T T - TCGA-3A-A9IO-01A-11D-A38G-08 TCGA-3A-A9IO-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0f03781a-d0e8-412d-b9b4-cfe3a5200e63 15ef34ec-aff2-4c0d-a8cf-9d725d670cab g.chr14:88940113delT ENST00000556564.1 - 14 2829 c.2545delA c.(2545-2547)ttfs p.I849fs PTPN21_ENST00000328736.3_Frame_Shift_Del_p.I849fs NM_007039.3 NP_008970.2 Q16825 PTN21_HUMAN protein tyrosine phosphatase, non-receptor type 21 849 cytoplasm|cytoskeleton binding|protein tyrosine phosphatase activity breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(13)|liver(1)|lung(7)|ovary(4)|prostate(3)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(1) 45 AGAGGACCAATTTTTTTTGCA 0.393 10 716 --- --- --- --- EML1 2009 broad.mit.edu 37 14 100367334 100367334 + Frame_Shift_Del DEL T T - TCGA-3A-A9IO-01A-11D-A38G-08 TCGA-3A-A9IO-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0f03781a-d0e8-412d-b9b4-cfe3a5200e63 15ef34ec-aff2-4c0d-a8cf-9d725d670cab g.chr14:100367334delT ENST00000262233.6 + 9 1105 c.966delT c.(964-966)ggfs p.G322fs EML1_ENST00000334192.4_Frame_Shift_Del_p.G341fs|EML1_ENST00000327921.9_Frame_Shift_Del_p.G310fs NM_004434.2 NP_004425.2 O00423 EMAL1_HUMAN echinoderm microtubule associated protein like 1 322 cytoplasm|microtubule|microtubule associated complex calcium ion binding|protein binding breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(15)|lung(9)|ovary(1)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1) 42 Melanoma(154;0.0879)|all_epithelial(191;0.216) TTGGAATAGGTTTTTTTGACC 0.428 8 839 --- --- --- --- SNHG14 0 broad.mit.edu 37 15 25324325 25324325 + RNA DEL T T - TCGA-3A-A9IO-01A-11D-A38G-08 TCGA-3A-A9IO-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0f03781a-d0e8-412d-b9b4-cfe3a5200e63 15ef34ec-aff2-4c0d-a8cf-9d725d670cab g.chr15:25324325delT ENST00000549804.2 + 0 1377 ACAACTGTCATTTTTTTTGAT 0.478 9 373 --- --- --- --- SNHG14 0 broad.mit.edu 37 15 25337049 25337050 + RNA DEL GA GA - TCGA-3A-A9IO-01A-11D-A38G-08 TCGA-3A-A9IO-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0f03781a-d0e8-412d-b9b4-cfe3a5200e63 15ef34ec-aff2-4c0d-a8cf-9d725d670cab g.chr15:25337049_25337050delGA ENST00000546682.1 + 0 969 SNHG14_ENST00000553108.1_RNA|SNHG14_ENST00000549804.2_RNA NR_003361.1 ACTGGAGCTGGAGAGAGAGAGA 0.500 7 845 --- --- --- --- WHAMM 123720 broad.mit.edu 37 15 83478966 83478966 + Frame_Shift_Del DEL C C - TCGA-3A-A9IO-01A-11D-A38G-08 TCGA-3A-A9IO-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0f03781a-d0e8-412d-b9b4-cfe3a5200e63 15ef34ec-aff2-4c0d-a8cf-9d725d670cab g.chr15:83478966delC ENST00000286760.4 + 1 587 c.488delC c.(487-489)gcfs p.A163fs NM_001080435.1 NP_001073904.1 Q8TF30 WHAMM_HUMAN WAS protein homolog associated with actin, golgi membranes and microtubules 163 cytoplasmic vesicle membrane|ER-Golgi intermediate compartment|Golgi apparatus actin binding endometrium(6)|large_intestine(5)|lung(1)|prostate(1) 13 TGCGGCGGCGCCACAGTGCGC 0.781 2 4 --- --- --- --- CMTM1 113540 broad.mit.edu 37 16 66603929 66603930 + Frame_Shift_Ins INS - - T TCGA-3A-A9IO-01A-11D-A38G-08 TCGA-3A-A9IO-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0f03781a-d0e8-412d-b9b4-cfe3a5200e63 15ef34ec-aff2-4c0d-a8cf-9d725d670cab g.chr16:66603929_66603930insT ENST00000379500.2 + 2 590_591 c.523_524insT c.(523-525)tttfs p.F175fs CMTM1_ENST00000328020.6_Frame_Shift_Ins_p.F175fs|CMTM1_ENST00000528324.1_Frame_Shift_Ins_p.F58fs|CMTM1_ENST00000533666.1_Intron|CMTM1_ENST00000535705.1_Intron|CMTM1_ENST00000332695.7_Intron|CKLF-CMTM1_ENST00000527729.1_Intron|CMTM1_ENST00000533953.1_Intron|CMTM1_ENST00000457188.2_Frame_Shift_Ins_p.F58fs|CMTM1_ENST00000531885.1_Intron|CMTM1_ENST00000336328.6_Intron NM_052999.3|NM_181268.2 NP_443725.3|NP_851785.2 Q8IZ96 CKLF1_HUMAN CKLF-like MARVEL transmembrane domain containing 1 58 chemotaxis extracellular space|integral to membrane cytokine activity breast(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(2) 7 Ovarian(137;0.0563) OV - Ovarian serous cystadenocarcinoma(108;0.0702)|Epithelial(162;0.222) CTGCATTGTCGTTTTTTTTATT 0.347 8 772 --- --- --- --- NOB1 28987 broad.mit.edu 37 16 69782978 69782980 + In_Frame_Del DEL TCC TCC - TCGA-3A-A9IO-01A-11D-A38G-08 TCGA-3A-A9IO-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0f03781a-d0e8-412d-b9b4-cfe3a5200e63 15ef34ec-aff2-4c0d-a8cf-9d725d670cab g.chr16:69782978_69782980delTCC ENST00000268802.5 - 6 596_598 c.567_569delGGA c.(565-570)gaa>ga p.EE189del NM_014062.1 NP_054781.1 Q9ULX3 NOB1_HUMAN NIN1/RPN12 binding protein 1 homolog (S. cerevisiae) 189 Poly-Glu. nucleus metal ion binding|protein binding breast(2)|cervix(1)|endometrium(1)|large_intestine(1)|lung(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 11 CCCGTTTTCTTCCTCCTCCTCCT 0.522 9 260 --- --- --- --- TMEM97 27346 broad.mit.edu 37 17 26653806 26653807 + Frame_Shift_Ins INS - - A TCGA-3A-A9IO-01A-11D-A38G-08 TCGA-3A-A9IO-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0f03781a-d0e8-412d-b9b4-cfe3a5200e63 15ef34ec-aff2-4c0d-a8cf-9d725d670cab g.chr17:26653806_26653807insA ENST00000226230.6 + 3 663_664 c.518_519insA c.(517-519)aaafs p.K173fs TMEM97_ENST00000336687.6_Frame_Shift_Ins_p.K66fs|TMEM97_ENST00000583381.1_Frame_Shift_Ins_p.K66fs NM_014573.2 NP_055388.2 Q5BJF2 TMM97_HUMAN transmembrane protein 97 173 cholesterol homeostasis|regulation of cell growth integral to membrane|lysosome|nuclear membrane|plasma membrane|rough endoplasmic reticulum protein binding p.K176fs?(1) endometrium(1)|lung(3)|ovary(1)|upper_aerodigestive_tract(1) 6 all_lung(13;0.000238)|Lung NSC(42;0.000789) UCEC - Uterine corpus endometrioid carcinoma (53;0.153) GAAGAGAAAAGAAAAAAAAAAT 0.441 16 299 --- --- --- --- CSF3 1440 broad.mit.edu 37 17 38172769 38172769 + Frame_Shift_Del DEL T T - TCGA-3A-A9IO-01A-11D-A38G-08 TCGA-3A-A9IO-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0f03781a-d0e8-412d-b9b4-cfe3a5200e63 15ef34ec-aff2-4c0d-a8cf-9d725d670cab g.chr17:38172769delT ENST00000331769.2 + 3 539 c.323delT c.(322-324)ctfs p.L108fs CSF3_ENST00000225474.2_Frame_Shift_Del_p.L115fs|CSF3_ENST00000394149.3_Frame_Shift_Del_p.L112fs|CSF3_ENST00000394148.3_Frame_Shift_Del_p.L79fs|CSF3_ENST00000577675.1_Frame_Shift_Del_p.L72fs P09919 CSF3_HUMAN colony stimulating factor 3 (granulocyte) 115 cytokine-mediated signaling pathway|granulocyte differentiation|immune response|positive regulation of cell proliferation extracellular space cytokine activity|enzyme binding|granulocyte colony-stimulating factor receptor binding|growth factor activity endometrium(1)|ovary(1)|prostate(1) 3 Colorectal(19;0.000442) Myeloproliferative disorder(1115;0.0255) Filgrastim(DB00099)|Pegfilgrastim(DB00019) CATAGCGGCCTTTTCCTCTAC 0.627 9 894 --- --- --- --- BPTF 2186 broad.mit.edu 37 17 65940454 65940456 + In_Frame_Del DEL CAC CAC - rs143937013 TCGA-3A-A9IO-01A-11D-A38G-08 TCGA-3A-A9IO-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0f03781a-d0e8-412d-b9b4-cfe3a5200e63 15ef34ec-aff2-4c0d-a8cf-9d725d670cab g.chr17:65940454_65940456delCAC ENST00000321892.4 + 22 7105_7107 c.7044_7046delCAC c.(7042-7047)agc>ag p.ST2348del BPTF_ENST00000424123.3_In_Frame_Del_p.ST2209del|BPTF_ENST00000306378.6_In_Frame_Del_p.ST2222del|BPTF_ENST00000335221.5_In_Frame_Del_p.ST2348del Q12830 BPTF_HUMAN bromodomain PHD finger transcription factor 2348 Thr-rich. brain development|chromatin remodeling|negative regulation of transcription from RNA polymerase II promoter|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent cytoplasm|NURF complex sequence-specific DNA binding|transcription factor binding|zinc ion binding NS(1)|breast(1)|central_nervous_system(3)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(16)|lung(23)|ovary(3)|pancreas(2)|prostate(4)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(2) 78 all_cancers(12;6e-11) BRCA - Breast invasive adenocarcinoma(8;7.48e-08)|Colorectal(3;0.0984)|LUSC - Lung squamous cell carcinoma(166;0.24) CCACAGCCAGCACCACCACCACC 0.542 8 703 --- --- --- --- ITGB4 3691 broad.mit.edu 37 17 73750045 73750046 + Frame_Shift_Ins INS - - C TCGA-3A-A9IO-01A-11D-A38G-08 TCGA-3A-A9IO-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0f03781a-d0e8-412d-b9b4-cfe3a5200e63 15ef34ec-aff2-4c0d-a8cf-9d725d670cab g.chr17:73750045_73750046insC ENST00000200181.3 + 33 4495_4496 c.4308_4309insC c.(4306-4311)ggccccfs p.GP1436fs ITGB4_ENST00000339591.3_Intron|ITGB4_ENST00000579662.1_Intron|GALK1_ENST00000225614.2_Intron|ITGB4_ENST00000450894.3_Intron|ITGB4_ENST00000449880.2_Intron NM_000213.3 NP_000204.3 P16144 ITB4_HUMAN integrin, beta 4 1436 cell communication|cell motility|cell-matrix adhesion|hemidesmosome assembly|integrin-mediated signaling pathway|multicellular organismal development|response to wounding cell leading edge|cell surface|hemidesmosome|integrin complex protein binding|receptor activity breast(2)|central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(3)|liver(1)|lung(25)|skin(1)|urinary_tract(1) 43 all_cancers(13;1.5e-07) all cancers(21;8.32e-07)|Epithelial(20;1.92e-06)|BRCA - Breast invasive adenocarcinoma(9;0.00194)|Lung(188;0.132)|LUSC - Lung squamous cell carcinoma(166;0.154) CGACACCCGGGCCCCCCGGAGG 0.817 2 4 --- --- --- --- SLC38A10 124565 broad.mit.edu 37 17 79219742 79219742 + Frame_Shift_Del DEL C C - TCGA-3A-A9IO-01A-11D-A38G-08 TCGA-3A-A9IO-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0f03781a-d0e8-412d-b9b4-cfe3a5200e63 15ef34ec-aff2-4c0d-a8cf-9d725d670cab g.chr17:79219742delC ENST00000374759.3 - 16 3357 c.2974delG c.(2974-2976)acfs p.D992fs NM_001037984.1 NP_001033073.1 Q9HBR0 S38AA_HUMAN solute carrier family 38, member 10 992 amino acid transport|sodium ion transport integral to membrane NS(1)|breast(2)|endometrium(4)|kidney(2)|large_intestine(2)|lung(7)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 23 all_neural(118;0.0804)|Melanoma(429;0.242) BRCA - Breast invasive adenocarcinoma(99;0.0272)|OV - Ovarian serous cystadenocarcinoma(97;0.117) GGCACATGGTCCCCCCCGCGG 0.687 7 336 --- --- --- --- SERPINB10 5273 broad.mit.edu 37 18 61584739 61584739 + Frame_Shift_Del DEL A A - TCGA-3A-A9IO-01A-11D-A38G-08 TCGA-3A-A9IO-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0f03781a-d0e8-412d-b9b4-cfe3a5200e63 15ef34ec-aff2-4c0d-a8cf-9d725d670cab g.chr18:61584739delA ENST00000238508.3 + 3 277 c.218delA c.(217-219)gafs p.E73fs NM_005024.1 NP_005015.1 serpin peptidase inhibitor, clade B (ovalbumin), member 10 p.R76fs*7(1) breast(1)|endometrium(3)|kidney(2)|large_intestine(6)|lung(6)|prostate(1)|skin(3)|stomach(2) 24 Esophageal squamous(42;0.131) CCTGAAAGTGAAAAAAAAAGG 0.284 8 187 --- --- --- --- RSPH6A 81492 broad.mit.edu 37 19 46299165 46299167 + In_Frame_Del DEL CCT CCT - rs62639328 byFrequency TCGA-3A-A9IO-01A-11D-A38G-08 TCGA-3A-A9IO-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0f03781a-d0e8-412d-b9b4-cfe3a5200e63 15ef34ec-aff2-4c0d-a8cf-9d725d670cab g.chr19:46299165_46299167delCCT ENST00000221538.3 - 6 2256_2258 c.2114_2116delAGG c.(2113-2118)ggc>g p.EG705del RSPH6A_ENST00000597055.1_3'UTR|RSPH6A_ENST00000600188.1_In_Frame_Del_p.EG441del NM_030785.3 NP_110412.1 Q9H0K4 RSH6A_HUMAN radial spoke head 6 homolog A (Chlamydomonas) 705 Glu-rich. intracellular central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(6)|liver(1)|lung(14)|ovary(2)|prostate(1)|skin(1)|urinary_tract(2) 32 tcctcctcgccctcctcctcctc 0.586 10 488 --- --- --- --- SIGLEC8 27181 broad.mit.edu 37 19 51961617 51961619 + In_Frame_Del DEL GCA GCA - TCGA-3A-A9IO-01A-11D-A38G-08 TCGA-3A-A9IO-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0f03781a-d0e8-412d-b9b4-cfe3a5200e63 15ef34ec-aff2-4c0d-a8cf-9d725d670cab g.chr19:51961617_51961619delGCA ENST00000321424.3 - 1 89_91 c.23_25delTGC c.(22-27)ccc>c p.LP8del SIGLEC8_ENST00000430817.1_In_Frame_Del_p.LP8del|SIGLEC8_ENST00000340550.5_In_Frame_Del_p.LP8del NM_014442.2 NP_055257.2 Q9NYZ4 SIGL8_HUMAN sialic acid binding Ig-like lectin 8 8 cell adhesion integral to membrane sugar binding|transmembrane receptor activity NS(1)|central_nervous_system(3)|endometrium(2)|kidney(4)|large_intestine(11)|liver(3)|lung(15)|ovary(2)|skin(4)|stomach(3)|urinary_tract(2) 50 all_neural(266;0.0199) GBM - Glioblastoma multiforme(134;0.000627)|OV - Ovarian serous cystadenocarcinoma(262;0.00979) CAGagcaggggcagcagcagcag 0.596 7 259 --- --- --- --- RP4-777D9.2 0 broad.mit.edu 37 20 21142441 21142442 + RNA INS - - A rs71715453 TCGA-3A-A9IO-01A-11D-A38G-08 TCGA-3A-A9IO-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0f03781a-d0e8-412d-b9b4-cfe3a5200e63 15ef34ec-aff2-4c0d-a8cf-9d725d670cab g.chr20:21142441_21142442insA ENST00000591761.1 - 0 5142 PLK1S1_ENST00000457464.1_RNA|RP5-872K7.7_ENST00000425746.2_RNA TTCATTTCTGGAAAAAAAAAAA 0.366 8 60 --- --- --- --- TSPYL2 64061 broad.mit.edu 37 X 53111759 53111761 + In_Frame_Del DEL CCG CCG - TCGA-3A-A9IO-01A-11D-A38G-08 TCGA-3A-A9IO-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0f03781a-d0e8-412d-b9b4-cfe3a5200e63 15ef34ec-aff2-4c0d-a8cf-9d725d670cab g.chrX:53111759_53111761delCCG ENST00000375442.4 + 1 211_213 c.79_81delCCG c.(79-81)del p.P33del NM_022117.3 NP_071400.1 Q9H2G4 TSYL2_HUMAN TSPY-like 2 33 Pro-rich. cell cycle|chromatin modification|negative regulation of cell cycle|negative regulation of cell growth|negative regulation of DNA replication|nucleosome assembly|regulation of protein kinase activity|regulation of signal transduction|regulation of transcription, DNA-dependent|transcription, DNA-dependent cytoplasm|nucleolus protein binding|rDNA binding central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(2)|lung(8)|upper_aerodigestive_tract(1) 19 CGACccgcccccgccgccgccgc 0.744 2 4 --- --- --- --- BHLHB9 80823 broad.mit.edu 37 X 102004419 102004421 + In_Frame_Del DEL GAG GAG - TCGA-3A-A9IO-01A-11D-A38G-08 TCGA-3A-A9IO-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0f03781a-d0e8-412d-b9b4-cfe3a5200e63 15ef34ec-aff2-4c0d-a8cf-9d725d670cab g.chrX:102004419_102004421delGAG ENST00000372735.1 + 4 1081_1083 c.496_498delGAG c.(496-498)del p.E171del BHLHB9_ENST00000457056.1_In_Frame_Del_p.E171del|BHLHB9_ENST00000448867.1_In_Frame_Del_p.E171del|BHLHB9_ENST00000447531.1_In_Frame_Del_p.E171del|BHLHB9_ENST00000361229.4_In_Frame_Del_p.E171del Q6PI77 BHLH9_HUMAN basic helix-loop-helix domain containing, class B, 9 171 Poly-Glu. cytoplasm|nucleus binding cervix(1)|endometrium(6)|kidney(3)|large_intestine(1)|lung(8)|ovary(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 26 GTCAGGGGCTGAGGAGGAGGAGG 0.488 8 389 --- --- --- ---