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 LRRN3 54674 broad.mit.edu 37 7 110764027 110764027 + Missense_Mutation SNP C C T TCGA-J9-A52D-01A-11D-A29Q-08 TCGA-J9-A52D-10A-01D-A29Q-08 Untested Somatic Phase_I WXS none Illumina GAIIx e63c8077-ee5f-4ff5-a416-8f73b2675957 14d30fae-711c-4b77-a452-4fd8eb1c039c g.chr7:110764027C>T ENST00000451085.1 + 4 2245 c.1199C>T c.(1198-1200)cCt>cTt p.P400L IMMP2L_ENST00000415362.1_Intron|IMMP2L_ENST00000450877.1_Intron|IMMP2L_ENST00000489381.1_Intron|IMMP2L_ENST00000405709.2_Intron|IMMP2L_ENST00000331762.3_Intron|IMMP2L_ENST00000452895.1_Intron|IMMP2L_ENST00000447215.1_Intron|LRRN3_ENST00000422987.3_Missense_Mutation_p.P400L|IMMP2L_ENST00000437687.1_Intron|LRRN3_ENST00000308478.5_Missense_Mutation_p.P400L NM_001099660.1 NP_001093130.1 Q9H3W5 LRRN3_HUMAN leucine rich repeat neuronal 3 400 LRRCT. integral to membrane p.P399fs*16(1) NS(1)|breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(15)|lung(20)|ovary(2)|pancreas(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(1) 55 UCEC - Uterine corpus endometrioid carcinoma (4;0.245)|LUSC - Lung squamous cell carcinoma(290;0.0715)|Lung(3;0.0864)|STAD - Stomach adenocarcinoma(3;0.125) GTGGACCCACCTGAATTCCAA 0.443000 7 62 0 0 1 0 0 ZNF106 64397 broad.mit.edu 37 15 42731450 42731450 + Missense_Mutation SNP C C T TCGA-J9-A52D-01A-11D-A29Q-08 TCGA-J9-A52D-10A-01D-A29Q-08 Untested Somatic Phase_I WXS none Illumina GAIIx e63c8077-ee5f-4ff5-a416-8f73b2675957 14d30fae-711c-4b77-a452-4fd8eb1c039c g.chr15:42731450C>T ENST00000263805.4 - 8 4582 c.4256G>A c.(4255-4257)aGt>aAt p.S1419N ZNF106_ENST00000565611.1_Missense_Mutation_p.S604N|ZNF106_ENST00000565380.1_Missense_Mutation_p.S647N NM_022473.1 NP_071918.1 zinc finger protein 106 AGACGAGTCACTATCTGGCTC 0.463000 51 100 0 0 1 0 0 CTPS1 1503 broad.mit.edu 37 1 41475253 41475253 + Silent SNP C C G TCGA-J9-A52D-01A-11D-A29Q-08 TCGA-J9-A52D-10A-01D-A29Q-08 Untested Somatic Phase_I WXS none Illumina GAIIx e63c8077-ee5f-4ff5-a416-8f73b2675957 14d30fae-711c-4b77-a452-4fd8eb1c039c g.chr1:41475253C>G ENST00000372621.4 + 17 2191 c.1683C>G c.(1681-1683)ctC>ctG p.L561L CTPS1_ENST00000541520.1_Silent_p.L330L|CTPS1_ENST00000372616.1_Silent_p.L561L NM_001905.2 NP_001896.2 P17812 PYRG1_HUMAN CTP synthase 1 561 CTP biosynthetic process|glutamine metabolic process|nucleobase, nucleoside and nucleotide interconversion|response to drug cytosol ATP binding|CTP synthase activity|protein binding endometrium(3)|lung(10) 13 L-Glutamine(DB00130) GCTGCAGGCTCTCACCCAGGT 0.537000 44 57 0 0 1 0 0 OGDHL 55753 broad.mit.edu 37 10 50953976 50953976 + Silent SNP C C T TCGA-J9-A52D-01A-11D-A29Q-08 TCGA-J9-A52D-10A-01D-A29Q-08 Untested Somatic Phase_I WXS none Illumina GAIIx e63c8077-ee5f-4ff5-a416-8f73b2675957 14d30fae-711c-4b77-a452-4fd8eb1c039c g.chr10:50953976C>T ENST00000374103.4 - 11 1429 c.1344G>A c.(1342-1344)ccG>ccA p.P448P OGDHL_ENST00000419399.1_Silent_p.P391P|OGDHL_ENST00000432695.1_Silent_p.P239P NM_018245.2 NP_060715.2 Q9ULD0 OGDHL_HUMAN oxoglutarate dehydrogenase-like 448 glycolysis mitochondrial matrix oxoglutarate dehydrogenase (succinyl-transferring) activity|thiamine pyrophosphate binding central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(14)|lung(30)|ovary(1)|pancreas(1)|prostate(2)|skin(1)|soft_tissue(1)|upper_aerodigestive_tract(1) 61 CCACGTCGGTCGGGTATGGTG 0.552000 18 38 0 0 1 0 0 DCLK1 9201 broad.mit.edu 37 13 36402390 36402390 + Silent SNP G G T TCGA-J9-A52D-01A-11D-A29Q-08 TCGA-J9-A52D-10A-01D-A29Q-08 Untested Somatic Phase_I WXS none Illumina GAIIx e63c8077-ee5f-4ff5-a416-8f73b2675957 14d30fae-711c-4b77-a452-4fd8eb1c039c g.chr13:36402390G>T ENST00000255448.4 - 9 1495 c.1284C>A c.(1282-1284)ggC>ggA p.G428G DCLK1_ENST00000379893.1_Silent_p.G121G|DCLK1_ENST00000360631.3_Silent_p.G428G NM_004734.4 NP_004725.1 O15075 DCLK1_HUMAN doublecortin-like kinase 1 428 Protein kinase. cell differentiation|central nervous system development|endosome transport|intracellular signal transduction|response to virus integral to plasma membrane ATP binding|protein serine/threonine kinase activity|receptor signaling protein activity breast(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(18)|lung(17)|ovary(2)|prostate(3)|skin(4)|stomach(6)|urinary_tract(1) 64 Breast(139;0.0147)|Lung SC(185;0.0685)|Prostate(109;0.122) KIRC - Kidney renal clear cell carcinoma(5;0.119)|Kidney(79;0.169) all cancers(112;1.72e-06)|Epithelial(112;4.24e-05)|BRCA - Breast invasive adenocarcinoma(63;0.00159)|OV - Ovarian serous cystadenocarcinoma(117;0.0158)|GBM - Glioblastoma multiforme(144;0.0638) TACATACTTTGCCTCGACATT 0.338000 8 12 3.09899e-07 3.34204e-07 1 1 0 KLK15 55554 broad.mit.edu 37 19 51330399 51330399 + Silent SNP C C G TCGA-J9-A52D-01A-11D-A29Q-08 TCGA-J9-A52D-10A-01D-A29Q-08 Untested Somatic Phase_I WXS none Illumina GAIIx e63c8077-ee5f-4ff5-a416-8f73b2675957 14d30fae-711c-4b77-a452-4fd8eb1c039c g.chr19:51330399C>G ENST00000326856.4 - 4 342 c.213G>C c.(211-213)ctG>ctC p.L71L KLK15_ENST00000301421.2_Silent_p.L72L|KLK15_ENST00000596931.1_Silent_p.L71L|KLK15_ENST00000598239.1_Silent_p.L72L|KLK15_ENST00000416184.1_Silent_p.L72L NM_001277081.1 NP_001264010.1 Q9H2R5 KLK15_HUMAN kallikrein-related peptidase 15 72 Peptidase S1. proteolysis extracellular region serine-type endopeptidase activity breast(1)|endometrium(2)|large_intestine(5)|liver(1)|lung(12)|skin(2)|upper_aerodigestive_tract(1) 24 all_neural(266;0.057) OV - Ovarian serous cystadenocarcinoma(262;0.00758)|GBM - Glioblastoma multiforme(134;0.0143) TGTGCTCTCCCAGGCGCACTC 0.622000 23 24 0 0 1 0 0 ANKRD30B 374860 broad.mit.edu 37 18 14850347 14850347 + Missense_Mutation SNP T T C TCGA-J9-A52D-01A-11D-A29Q-08 TCGA-J9-A52D-10A-01D-A29Q-08 Untested Somatic Phase_I WXS none Illumina GAIIx e63c8077-ee5f-4ff5-a416-8f73b2675957 14d30fae-711c-4b77-a452-4fd8eb1c039c g.chr18:14850347T>C ENST00000358984.4 + 35 3353 c.3173T>C c.(3172-3174)aTa>aCa p.I1058T NM_001145029.1 NP_001138501.1 Q9BXX2 AN30B_HUMAN ankyrin repeat domain 30B 1143 breast(3)|endometrium(4)|kidney(3)|lung(8)|ovary(1)|prostate(2)|skin(1) 22 ATACAAGATATAGAATTGAAA 0.279000 3 8 0 0 1 0 0 SLC4A1 6521 broad.mit.edu 37 17 42328795 42328795 + Missense_Mutation SNP C C T TCGA-J9-A52D-01A-11D-A29Q-08 TCGA-J9-A52D-10A-01D-A29Q-08 Untested Somatic Phase_I WXS none Illumina GAIIx e63c8077-ee5f-4ff5-a416-8f73b2675957 14d30fae-711c-4b77-a452-4fd8eb1c039c g.chr17:42328795C>T ENST00000262418.6 - 18 2628 c.2473G>A c.(2473-2475)Gtc>Atc p.V825I NM_000342.3 NP_000333.1 P02730 B3AT_HUMAN solute carrier family 4 (anion exchanger), member 1 825 Membrane (anion exchange). bicarbonate transport|cellular ion homeostasis basolateral plasma membrane|cortical cytoskeleton|integral to plasma membrane|Z disc ankyrin binding|chloride transmembrane transporter activity|inorganic anion exchanger activity|protein anchor|protein homodimerization activity central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(9)|lung(16)|ovary(2)|prostate(3)|skin(1)|urinary_tract(1) 40 Breast(137;0.014)|Prostate(33;0.0181) BRCA - Breast invasive adenocarcinoma(366;0.115) ACCCGCTTGACGTAGGGCACA 0.602000 31 56 0 0 1 0 0 ZNF618 114991 broad.mit.edu 37 9 116811992 116811992 + Missense_Mutation SNP G G T TCGA-J9-A52D-01A-11D-A29Q-08 TCGA-J9-A52D-10A-01D-A29Q-08 Untested Somatic Phase_I WXS none Illumina GAIIx e63c8077-ee5f-4ff5-a416-8f73b2675957 14d30fae-711c-4b77-a452-4fd8eb1c039c g.chr9:116811992G>T ENST00000288466.7 + 14 2230 c.2131G>T c.(2131-2133)Gtg>Ttg p.V711L ZNF618_ENST00000374126.5_Missense_Mutation_p.V804L|ZNF618_ENST00000470105.1_3'UTR NM_133374.2 NP_588615.2 Q5T7W0 ZN618_HUMAN zinc finger protein 618 804 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding breast(1)|endometrium(4)|lung(10)|urinary_tract(1) 16 GGCCCACAAGGTGGCCATGAT 0.612000 7 98 2.0095e-06 2.08533e-06 1 1 0 MTCP1 4515 broad.mit.edu 37 X 154294021 154294021 + Missense_Mutation SNP G G C TCGA-J9-A52D-01A-11D-A29Q-08 TCGA-J9-A52D-10A-01D-A29Q-08 Untested Somatic Phase_I WXS none Illumina GAIIx e63c8077-ee5f-4ff5-a416-8f73b2675957 14d30fae-711c-4b77-a452-4fd8eb1c039c g.chrX:154294021G>C ENST00000369476.3 - 3 728 c.149C>G c.(148-150)cCc>cGc p.P50R MTCP1_ENST00000482244.1_5'UTR|CMC4_ENST00000369484.3_Intron|MTCP1_ENST00000362018.2_Missense_Mutation_p.P50R NM_001018025.3 NP_001018025.1 P56278 MTCP1_HUMAN mature T-cell proliferation 1 50 cell proliferation large_intestine(1)|lung(2)|prostate(1)|urinary_tract(1) 5 all_cancers(53;3.51e-17)|all_epithelial(53;5.13e-11)|all_lung(58;3.84e-07)|Lung NSC(58;1.2e-06)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176)|Renal(33;0.214) GTCACCTAAGGGAACCTGAAT 0.478000 T TRA@ T cell prolymphocytic leukemia 33 4 0 0 1 0 0 MAPKAP1 79109 broad.mit.edu 37 9 128230300 128230300 + Silent SNP G G A TCGA-J9-A52D-01A-11D-A29Q-08 TCGA-J9-A52D-10A-01D-A29Q-08 Untested Somatic Phase_I WXS none Illumina GAIIx e63c8077-ee5f-4ff5-a416-8f73b2675957 14d30fae-711c-4b77-a452-4fd8eb1c039c g.chr9:128230300G>A ENST00000265960.3 - 10 1628 c.1296C>T c.(1294-1296)atC>atT p.I432I MAPKAP1_ENST00000373503.3_Silent_p.I240I|MAPKAP1_ENST00000373498.1_Silent_p.I432I|MAPKAP1_ENST00000373497.5_Silent_p.I145I|MAPKAP1_ENST00000483937.1_5'UTR|MAPKAP1_ENST00000350766.3_Silent_p.I396I|MAPKAP1_ENST00000373511.2_Silent_p.I385I|MAPKAP1_ENST00000394063.1_Silent_p.I240I NM_001006617.1 NP_001006618.1 Q9BPZ7 SIN1_HUMAN mitogen-activated protein kinase associated protein 1 432 nerve growth factor receptor signaling pathway|phosphatidylinositol-mediated signaling|response to stress|T cell costimulation cytoplasmic membrane-bounded vesicle|cytosol|nucleus|plasma membrane Ras GTPase binding endometrium(2)|kidney(1)|large_intestine(2)|lung(15)|ovary(3) 23 GGTCGGAATCGATTGAGATGG 0.453000 8 107 0 0 1 0 0 ZNF233 353355 broad.mit.edu 37 19 44778000 44778000 + Missense_Mutation SNP G G C TCGA-J9-A52D-01A-11D-A29Q-08 TCGA-J9-A52D-10A-01D-A29Q-08 Untested Somatic Phase_I WXS none Illumina GAIIx e63c8077-ee5f-4ff5-a416-8f73b2675957 14d30fae-711c-4b77-a452-4fd8eb1c039c g.chr19:44778000G>C ENST00000391958.2 + 5 1314 c.1187G>C c.(1186-1188)aGa>aCa p.R396T ZNF233_ENST00000334152.1_Missense_Mutation_p.R378T|ZNF235_ENST00000589799.1_Intron|ZNF233_ENST00000592581.1_3'UTR NM_181756.2 NP_861421.2 A6NK53 ZN233_HUMAN zinc finger protein 233 396 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding breast(2)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(4)|skin(3)|urinary_tract(1) 20 Prostate(69;0.0435)|all_neural(266;0.226) GCTGGAGAGAGAGCCTGTAAA 0.448000 41 23 0 0 1 0 0 CHD1 1105 broad.mit.edu 37 5 98229277 98229277 + Missense_Mutation SNP C C G TCGA-J9-A52D-01A-11D-A29Q-08 TCGA-J9-A52D-10A-01D-A29Q-08 Untested Somatic Phase_I WXS none Illumina GAIIx e63c8077-ee5f-4ff5-a416-8f73b2675957 14d30fae-711c-4b77-a452-4fd8eb1c039c g.chr5:98229277C>G ENST00000284049.3 - 13 1983 c.1834G>C c.(1834-1836)Ggt>Cgt p.G612R NM_001270.2 NP_001261.2 O14646 CHD1_HUMAN chromodomain helicase DNA binding protein 1 612 Helicase ATP-binding. regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent cytoplasm|nucleus ATP binding|ATP-dependent DNA helicase activity|DNA binding|methylated histone residue binding NS(1)|breast(4)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(11)|lung(12)|ovary(2)|pancreas(1)|prostate(7)|skin(3)|urinary_tract(2) 49 all_cancers(142;5.36e-08)|all_epithelial(76;6.97e-11)|Lung NSC(167;0.000693)|Prostate(80;0.000986)|all_lung(232;0.00119)|Ovarian(225;0.024)|Colorectal(57;0.117) COAD - Colon adenocarcinoma(37;0.0717) Epirubicin(DB00445) TCATCAACACCTATAAATGCC 0.333000 45 5 0 0 1 0 0 DNAH17 8632 broad.mit.edu 37 17 76566365 76566365 + Silent SNP G G T TCGA-J9-A52D-01A-11D-A29Q-08 TCGA-J9-A52D-10A-01D-A29Q-08 Untested Somatic Phase_I WXS none Illumina GAIIx e63c8077-ee5f-4ff5-a416-8f73b2675957 14d30fae-711c-4b77-a452-4fd8eb1c039c g.chr17:76566365G>T ENST00000389840.5 - 7 1132 c.1008C>A c.(1006-1008)gtC>gtA p.V336V DNAH17_ENST00000585328.1_Silent_p.V336V dynein, axonemal, heavy chain 17 NS(2)|breast(7)|central_nervous_system(5)|cervix(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(1)|kidney(13)|large_intestine(8)|lung(37)|ovary(8)|prostate(7)|skin(4)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(3) 116 BRCA - Breast invasive adenocarcinoma(99;0.00294)|OV - Ovarian serous cystadenocarcinoma(97;0.0656) CCTGCAGGATGACGATGATCC 0.597000 9 10 5.4927e-09 6.04197e-09 1 1 0 TLL1 7092 broad.mit.edu 37 4 167020676 167020676 + Silent SNP C C T rs115401178 by1000genomes TCGA-J9-A52D-01A-11D-A29Q-08 TCGA-J9-A52D-10A-01D-A29Q-08 Untested Somatic Phase_I WXS none Illumina GAIIx e63c8077-ee5f-4ff5-a416-8f73b2675957 14d30fae-711c-4b77-a452-4fd8eb1c039c g.chr4:167020676C>T ENST00000061240.2 + 20 3551 c.2904C>T c.(2902-2904)tcC>tcT p.S968S TLL1_ENST00000507499.1_Silent_p.S991S NM_012464.4 NP_036596.3 O43897 TLL1_HUMAN tolloid-like 1 968 CUB 5. cell differentiation|proteolysis|skeletal system development extracellular region calcium ion binding|metalloendopeptidase activity|zinc ion binding NS(1)|breast(1)|central_nervous_system(1)|endometrium(7)|kidney(4)|large_intestine(21)|lung(26)|ovary(2)|prostate(5)|skin(6)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 77 all_hematologic(180;0.221) Melanoma(52;0.0315)|Prostate(90;0.0405) GBM - Glioblastoma multiforme(119;0.103) TCTGTGGATCCGGGGTAAATA 0.423000 64 64 0 0 1 0 0 CHST4 10164 broad.mit.edu 37 16 71570800 71570800 + Missense_Mutation SNP C C T TCGA-J9-A52D-01A-11D-A29Q-08 TCGA-J9-A52D-10A-01D-A29Q-08 Untested Somatic Phase_I WXS none Illumina GAIIx e63c8077-ee5f-4ff5-a416-8f73b2675957 14d30fae-711c-4b77-a452-4fd8eb1c039c g.chr16:71570800C>T ENST00000338482.5 + 3 563 c.220C>T c.(220-222)Ccc>Tcc p.P74S CHST4_ENST00000572450.1_Missense_Mutation_p.P74S|CHST4_ENST00000539698.3_Missense_Mutation_p.P74S|ZNF19_ENST00000568446.1_Intron|RP11-510M2.9_ENST00000572693.1_RNA Q8NCG5 CHST4_HUMAN carbohydrate (N-acetylglucosamine 6-O) sulfotransferase 4 74 cell-cell signaling|immune response|inflammatory response|N-acetylglucosamine metabolic process|protein sulfation integral to membrane|intrinsic to Golgi membrane|trans-Golgi network N-acetylglucosamine 6-O-sulfotransferase activity cervix(1)|kidney(3)|large_intestine(9)|lung(6)|prostate(1)|upper_aerodigestive_tract(1) 21 CCTGATGGAGCCCGCCTGGCA 0.587000 5 87 0 0 1 0 0 DIXDC1 85458 broad.mit.edu 37 11 111845678 111845678 + Missense_Mutation SNP A A T TCGA-J9-A52D-01A-11D-A29Q-08 TCGA-J9-A52D-10A-01D-A29Q-08 Untested Somatic Phase_I WXS none Illumina GAIIx e63c8077-ee5f-4ff5-a416-8f73b2675957 14d30fae-711c-4b77-a452-4fd8eb1c039c g.chr11:111845678A>T ENST00000440460.2 + 5 924 c.627A>T c.(625-627)caA>caT p.Q209H DIXDC1_ENST00000389821.4_3'UTR|DIXDC1_ENST00000531396.1_Missense_Mutation_p.Q209H|DIXDC1_ENST00000529225.1_Missense_Mutation_p.Q208H NM_001037954.2 NP_001033043.1 Q155Q3 DIXC1_HUMAN DIX domain containing 1 209 Actin-binding. multicellular organismal development|positive regulation of canonical Wnt receptor signaling pathway|Wnt receptor signaling pathway cytosol|focal adhesion actin binding|gamma-tubulin binding|signal transducer activity cervix(2)|endometrium(4)|kidney(1)|large_intestine(3)|lung(6)|ovary(1) 17 all_cancers(61;7.58e-15)|all_epithelial(67;5.42e-09)|Melanoma(852;1.91e-06)|all_hematologic(158;0.000405)|Acute lymphoblastic leukemia(157;0.000967)|Breast(348;0.0112)|all_neural(223;0.0281)|Medulloblastoma(222;0.0425) Epithelial(105;2.99e-07)|BRCA - Breast invasive adenocarcinoma(274;6.72e-07)|all cancers(92;6.25e-06)|OV - Ovarian serous cystadenocarcinoma(223;0.0548) AAGGGCAACAAAGGTCCCCGT 0.507000 5 18 0 0 1 0 0 RTTN 25914 broad.mit.edu 37 18 67844063 67844063 + Missense_Mutation SNP C C T TCGA-J9-A52D-01A-11D-A29Q-08 TCGA-J9-A52D-10A-01D-A29Q-08 Untested Somatic Phase_I WXS none Illumina GAIIx e63c8077-ee5f-4ff5-a416-8f73b2675957 14d30fae-711c-4b77-a452-4fd8eb1c039c g.chr18:67844063C>T ENST00000255674.6 - 11 1610 c.1324G>A c.(1324-1326)Gtg>Atg p.V442M RTTN_ENST00000437017.1_Missense_Mutation_p.V442M|RTTN_ENST00000454359.1_Missense_Mutation_p.V442M NM_173630.3 NP_775901.3 Q86VV8 RTTN_HUMAN rotatin 442 binding NS(1)|breast(3)|central_nervous_system(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(9)|lung(35)|ovary(4)|pancreas(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1) 80 Esophageal squamous(42;0.129) GCTCCCAACACCAGGAGTAGT 0.428000 9 102 0 0 1 0 0 CRYM-AS1 0 broad.mit.edu 37 16 21328228 21328228 + RNA SNP C C T TCGA-J9-A52D-01A-11D-A29Q-08 TCGA-J9-A52D-10A-01D-A29Q-08 Untested Somatic Phase_I WXS none Illumina GAIIx e63c8077-ee5f-4ff5-a416-8f73b2675957 14d30fae-711c-4b77-a452-4fd8eb1c039c g.chr16:21328228C>T ENST00000444326.1 + 0 344 CCTCACATTTCTGTTTAGTGC 0.398000 5 175 0 0 1 0 0 ERC1 23085 broad.mit.edu 37 12 1219473 1219473 + Missense_Mutation SNP T T G TCGA-J9-A52D-01A-11D-A29Q-08 TCGA-J9-A52D-10A-01D-A29Q-08 Untested Somatic Phase_I WXS none Illumina GAIIx e63c8077-ee5f-4ff5-a416-8f73b2675957 14d30fae-711c-4b77-a452-4fd8eb1c039c g.chr12:1219473T>G ENST00000397203.2 + 5 1683 c.1277T>G c.(1276-1278)aTg>aGg p.M426R ERC1_ENST00000543086.3_Missense_Mutation_p.M426R|ERC1_ENST00000360905.4_Missense_Mutation_p.M426R|ERC1_ENST00000546231.2_Missense_Mutation_p.M426R|ERC1_ENST00000589028.1_Missense_Mutation_p.M426R|ERC1_ENST00000355446.5_Missense_Mutation_p.M426R|ERC1_ENST00000536573.2_3'UTR Q8IUD2 RB6I2_HUMAN ELKS/RAB6-interacting/CAST family member 1 426 I-kappaB phosphorylation|multicellular organismal development|positive regulation of anti-apoptosis|positive regulation of NF-kappaB transcription factor activity|protein transport Golgi membrane|IkappaB kinase complex|presynaptic membrane leucine zipper domain binding NS(1)|breast(2)|cervix(2)|endometrium(2)|large_intestine(8)|lung(15)|ovary(3)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 38 all_epithelial(11;0.0698)|Ovarian(42;0.107) OV - Ovarian serous cystadenocarcinoma(31;0.00239)|BRCA - Breast invasive adenocarcinoma(9;0.0567) ATGAAGCAAATGGAAGTGTAT 0.373000 25 27 0 0 1 0 0 CYP2D7P1 0 broad.mit.edu 37 22 42538870 42538870 + RNA SNP A A C rs2982057 by1000genomes TCGA-J9-A52D-01A-11D-A29Q-08 TCGA-J9-A52D-10A-01D-A29Q-08 Untested Somatic Phase_I WXS none Illumina GAIIx e63c8077-ee5f-4ff5-a416-8f73b2675957 14d30fae-711c-4b77-a452-4fd8eb1c039c g.chr22:42538870A>C ENST00000433992.1 - 0 475 CYP2D7P1_ENST00000358097.4_RNA|CYP2D7P1_ENST00000424775.1_RNA endometrium(1) 1 CCATAGCGCGACAGGAACACC 0.687000 3 38 0 0 1 0 0 EBI3 10148 broad.mit.edu 37 19 4236975 4236975 + Missense_Mutation SNP C C T TCGA-J9-A52D-01A-11D-A29Q-08 TCGA-J9-A52D-10A-01D-A29Q-08 Untested Somatic Phase_I WXS none Illumina GAIIx e63c8077-ee5f-4ff5-a416-8f73b2675957 14d30fae-711c-4b77-a452-4fd8eb1c039c g.chr19:4236975C>T ENST00000221847.5 + 5 633 c.580C>T c.(580-582)Cgg>Tgg p.R194W NM_005755.2 NP_005746.2 Q14213 IL27B_HUMAN Epstein-Barr virus induced 3 194 Fibronectin type-III 2. humoral immune response|positive regulation of alpha-beta T cell proliferation|positive regulation of interferon-gamma biosynthetic process|T-helper 1 type immune response extracellular space|plasma membrane cytokine activity|cytokine receptor activity large_intestine(1)|lung(2)|ovary(1)|urinary_tract(1) 5 Hepatocellular(1079;0.137) UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.0336)|STAD - Stomach adenocarcinoma(1328;0.18) CAGGGCTGTGCGGCCCCGAGC 0.607000 3 57 0 0 1 0 0 IFNW1 3467 broad.mit.edu 37 9 21141119 21141119 + Missense_Mutation SNP G G T rs141528866 TCGA-J9-A52D-01A-11D-A29Q-08 TCGA-J9-A52D-10A-01D-A29Q-08 Untested Somatic Phase_I WXS none Illumina GAIIx e63c8077-ee5f-4ff5-a416-8f73b2675957 14d30fae-711c-4b77-a452-4fd8eb1c039c g.chr9:21141119G>T ENST00000380229.2 - 1 1025 c.451C>A c.(451-453)Cgt>Agt p.R151S NM_002177.1 NP_002168.1 P05000 IFNW1_HUMAN interferon, omega 1 151 cell cycle arrest|defense response|response to virus extracellular space cytokine activity|cytokine receptor binding endometrium(1)|kidney(1)|lung(2)|ovary(1) 5 GBM - Glioblastoma multiforme(5;2.35e-185)|Lung(24;2.24e-22)|LUSC - Lung squamous cell carcinoma(38;1.4e-13) AGGTAGACACGGATTCCCTGG 0.483000 43 36 3.09479e-21 3.47374e-21 1 1 0 SPOP 8405 broad.mit.edu 37 17 47696426 47696426 + Missense_Mutation SNP A A T TCGA-J9-A52D-01A-11D-A29Q-08 TCGA-J9-A52D-10A-01D-A29Q-08 Untested Somatic Phase_I WXS none Illumina GAIIx e63c8077-ee5f-4ff5-a416-8f73b2675957 14d30fae-711c-4b77-a452-4fd8eb1c039c g.chr17:47696426A>T ENST00000393331.3 - 7 867 c.397T>A c.(397-399)Ttc>Atc p.F133I SPOP_ENST00000393328.2_Missense_Mutation_p.F133I|SPOP_ENST00000503676.1_Missense_Mutation_p.F133I|SPOP_ENST00000347630.2_Missense_Mutation_p.F133I|SPOP_ENST00000504102.1_Missense_Mutation_p.F133I NM_001007226.1|NM_001007227.1 NP_001007227.1|NP_001007228.1 O43791 SPOP_HUMAN speckle-type POZ protein 133 MATH.|Required for nuclear localization. mRNA processing nucleus protein binding p.F133V(4) endometrium(18)|kidney(1)|large_intestine(3)|liver(1)|lung(4)|ovary(3)|prostate(33) 63 AATTTCTTGAATCCCCAGTCT 0.448000 Prostate(2;0.17) 57 68 0 0 1 0 0 SPTBN1 0 broad.mit.edu 37 2 54882330 54882330 + Missense_Mutation SNP C C G TCGA-J9-A52D-01A-11D-A29Q-08 TCGA-J9-A52D-10A-01D-A29Q-08 Untested Somatic Phase_I WXS none Illumina GAIIx e63c8077-ee5f-4ff5-a416-8f73b2675957 14d30fae-711c-4b77-a452-4fd8eb1c039c g.chr2:54882330C>G ENST00000333896.5 + 27 6292 c.5907C>G c.(5905-5907)caC>caG p.H1969Q SPTBN1_ENST00000356805.4_Missense_Mutation_p.H1982Q NM_178313.2 NP_842565.2 Q01082 SPTB2_HUMAN spectrin, beta, non-erythrocytic 1 1982 Interaction with ANK2. actin filament capping|axon guidance cytosol|nucleolus|plasma membrane|sarcomere|spectrin actin binding|calmodulin binding|protein binding|structural constituent of cytoskeleton NS(1)|breast(8)|central_nervous_system(2)|endometrium(10)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(11)|lung(27)|ovary(4)|prostate(2)|skin(5)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1) 82 Lung(47;0.24) CGAGAAAACACTATGCATCTG 0.403000 13 20 0 0 1 0 0 CDH12 1010 broad.mit.edu 37 5 21975394 21975394 + Missense_Mutation SNP A A G TCGA-J9-A52D-01A-11D-A29Q-08 TCGA-J9-A52D-10A-01D-A29Q-08 Untested Somatic Phase_I WXS none Illumina GAIIx e63c8077-ee5f-4ff5-a416-8f73b2675957 14d30fae-711c-4b77-a452-4fd8eb1c039c g.chr5:21975394A>G ENST00000382254.1 - 6 1418 c.332T>C c.(331-333)aTt>aCt p.I111T CDH12_ENST00000504376.2_Missense_Mutation_p.I111T|CDH12_ENST00000522262.1_Missense_Mutation_p.I111T NM_004061.3 NP_004052.2 P55289 CAD12_HUMAN cadherin 12, type 2 (N-cadherin 2) 111 Cadherin 1. adherens junction organization|cell junction assembly|homophilic cell adhesion integral to membrane|plasma membrane calcium ion binding NS(2)|breast(2)|cervix(1)|endometrium(6)|kidney(4)|large_intestine(19)|lung(75)|ovary(2)|prostate(3)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 120 TATTGCATGAATGTCCCCTGT 0.493000 HNSCC(59;0.17) 8 80 0 0 1 0 0 DUS3L 56931 broad.mit.edu 37 19 5789637 5789637 + Missense_Mutation SNP G G A TCGA-J9-A52D-01A-11D-A29Q-08 TCGA-J9-A52D-10A-01D-A29Q-08 Untested Somatic Phase_I WXS none Illumina GAIIx e63c8077-ee5f-4ff5-a416-8f73b2675957 14d30fae-711c-4b77-a452-4fd8eb1c039c g.chr19:5789637G>A ENST00000309061.7 - 3 577 c.481C>T c.(481-483)Cgc>Tgc p.R161C DUS3L_ENST00000590681.1_5'UTR|DUS3L_ENST00000320699.8_Intron NM_020175.2 NP_064560.2 Q96G46 DUS3L_HUMAN dihydrouridine synthase 3-like (S. cerevisiae) 161 tRNA processing flavin adenine dinucleotide binding|nucleic acid binding|tRNA dihydrouridine synthase activity|zinc ion binding endometrium(1)|kidney(1)|large_intestine(1)|lung(8)|prostate(1)|skin(2) 14 AGCACGCAGCGGGGGCCCAGG 0.682000 7 7 0 0 1 0 0 KDM4A 9682 broad.mit.edu 37 1 44163650 44163650 + Missense_Mutation SNP C C T TCGA-J9-A52D-01A-11D-A29Q-08 TCGA-J9-A52D-10A-01D-A29Q-08 Untested Somatic Phase_I WXS none Illumina GAIIx e63c8077-ee5f-4ff5-a416-8f73b2675957 14d30fae-711c-4b77-a452-4fd8eb1c039c g.chr1:44163650C>T ENST00000372396.3 + 19 2941 c.2807C>T c.(2806-2808)tCc>tTc p.S936F NM_014663.2 NP_055478.2 O75164 KDM4A_HUMAN lysine (K)-specific demethylase 4A 936 Tudor 1. interspecies interaction between organisms|negative regulation of transcription, DNA-dependent|transcription, DNA-dependent centrosome|nucleolus histone demethylase activity (H3-K36 specific)|nucleic acid binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|protein binding|zinc ion binding breast(2)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(6)|lung(13)|prostate(1)|skin(3)|upper_aerodigestive_tract(4)|urinary_tract(1) 37 GATGATGGCTCCTTCAGCGAC 0.483000 35 27 0 0 1 0 0 RPA4 29935 broad.mit.edu 37 X 96140003 96140003 + Missense_Mutation SNP G G A TCGA-J9-A52D-01A-11D-A29Q-08 TCGA-J9-A52D-10A-01D-A29Q-08 Untested Somatic Phase_I WXS none Illumina GAIIx e63c8077-ee5f-4ff5-a416-8f73b2675957 14d30fae-711c-4b77-a452-4fd8eb1c039c g.chrX:96140003G>A ENST00000373040.3 + 1 1097 c.694G>A c.(694-696)Gtc>Atc p.V232I DIAPH2_ENST00000324765.8_Intron|DIAPH2_ENST00000355827.4_Intron|DIAPH2_ENST00000373049.4_Intron|DIAPH2_ENST00000373054.4_Intron|DIAPH2_ENST00000373061.3_Intron NM_013347.4 NP_037479.1 Q13156 RFA4_HUMAN replication protein A4, 30kDa 232 DNA damage checkpoint|DNA-dependent DNA replication initiation|G1/S transition of mitotic cell cycle|M/G1 transition of mitotic cell cycle|nucleotide-excision repair DNA replication factor A complex|nucleoplasm single-stranded DNA binding endometrium(1)|kidney(1)|large_intestine(3)|lung(7)|ovary(1) 13 CGACCTTAGCGTCAAGGCCAT 0.517000 Other identified genes with known or suspected DNA repair function 53 6 0 0 1 0 0 UCKL1 54963 broad.mit.edu 37 20 62572025 62572025 + Silent SNP G G A TCGA-J9-A52D-01A-11D-A29Q-08 TCGA-J9-A52D-10A-01D-A29Q-08 Untested Somatic Phase_I WXS none Illumina GAIIx e63c8077-ee5f-4ff5-a416-8f73b2675957 14d30fae-711c-4b77-a452-4fd8eb1c039c g.chr20:62572025G>A ENST00000369908.5 - 12 1478 c.1179C>T c.(1177-1179)ccC>ccT p.P393P UCKL1_ENST00000369892.3_Silent_p.P408P|UCKL1_ENST00000358711.3_3'UTR|UCKL1_ENST00000354216.6_Silent_p.P408P NM_001193379.1 NP_001180308.1 Q9NWZ5 UCKL1_HUMAN uridine-cytidine kinase 1-like 1 408 interspecies interaction between organisms endoplasmic reticulum|nucleus ATP binding|phosphotransferase activity, alcohol group as acceptor|protein binding|uridine kinase activity endometrium(3)|large_intestine(1)|lung(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 8 all_cancers(38;2.14e-11)|all_epithelial(29;3.41e-13)|Lung NSC(23;3.41e-09)|all_lung(23;1.06e-08) CGCGCAGCGCGGGCTCCATGG 0.697000 12 16 0 0 1 0 0 RCOR2 283248 broad.mit.edu 37 11 63679992 63679992 + Missense_Mutation SNP C C T TCGA-J9-A52D-01A-11D-A29Q-08 TCGA-J9-A52D-10A-01D-A29Q-08 Untested Somatic Phase_I WXS none Illumina GAIIx e63c8077-ee5f-4ff5-a416-8f73b2675957 14d30fae-711c-4b77-a452-4fd8eb1c039c g.chr11:63679992C>T ENST00000301459.4 - 11 1429 c.1042G>A c.(1042-1044)Ggc>Agc p.G348S NM_173587.3 NP_775858.2 Q8IZ40 RCOR2_HUMAN REST corepressor 2 348 SANT 2. regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding p.Y347fs*39(1) kidney(2)|large_intestine(3)|liver(1)|lung(5)|ovary(2)|skin(3)|upper_aerodigestive_tract(1) 17 AAGTCTTTGCCATACCTACGG 0.547000 54 60 0 0 1 0 0 BCAS4 55653 broad.mit.edu 37 20 49446884 49446884 + Missense_Mutation SNP G G A TCGA-J9-A52D-01A-11D-A29Q-08 TCGA-J9-A52D-10A-01D-A29Q-08 Untested Somatic Phase_I WXS none Illumina GAIIx e63c8077-ee5f-4ff5-a416-8f73b2675957 14d30fae-711c-4b77-a452-4fd8eb1c039c g.chr20:49446884G>A ENST00000358791.5 + 3 421 c.321G>A c.(319-321)atG>atA p.M107I BCAS4_ENST00000371608.2_Missense_Mutation_p.M107I|BCAS4_ENST00000485049.1_3'UTR|BCAS4_ENST00000262591.5_Missense_Mutation_p.M107I NM_017843.3 NP_060313.3 Q8TDM0 BCAS4_HUMAN breast carcinoma amplified sequence 4 107 cytoplasm large_intestine(2)|lung(2)|pancreas(1)|upper_aerodigestive_tract(1) 6 TGACAGAAATGCGTGGCATCT 0.488000 35 37 0 0 1 0 0 IRF9 10379 broad.mit.edu 37 14 24632648 24632648 + Silent SNP G G A TCGA-J9-A52D-01A-11D-A29Q-08 TCGA-J9-A52D-10A-01D-A29Q-08 Untested Somatic Phase_I WXS none Illumina GAIIx e63c8077-ee5f-4ff5-a416-8f73b2675957 14d30fae-711c-4b77-a452-4fd8eb1c039c g.chr14:24632648G>A ENST00000396864.3 + 4 713 c.426G>A c.(424-426)agG>agA p.R142R RP11-468E2.4_ENST00000558468.1_3'UTR|IRF9_ENST00000557894.1_Silent_p.R40R NM_006084.4 NP_006075.3 Q00978 IRF9_HUMAN interferon regulatory factor 9 142 interferon-gamma-mediated signaling pathway|response to virus|transcription from RNA polymerase II promoter|type I interferon-mediated signaling pathway cytosol|nucleoplasm DNA binding|identical protein binding|sequence-specific DNA binding transcription factor activity p.R142S(1) NS(1)|breast(2)|kidney(3)|large_intestine(3)|lung(4)|ovary(1)|skin(2) 16 GBM - Glioblastoma multiforme(265;0.00853) CCTCTGAGAGGAAGGAGGAAG 0.532000 86 114 0 0 1 0 0 MYOT 9499 broad.mit.edu 37 5 137219176 137219176 + Missense_Mutation SNP C C T TCGA-J9-A52D-01A-11D-A29Q-08 TCGA-J9-A52D-10A-01D-A29Q-08 Untested Somatic Phase_I WXS none Illumina GAIIx e63c8077-ee5f-4ff5-a416-8f73b2675957 14d30fae-711c-4b77-a452-4fd8eb1c039c g.chr5:137219176C>T ENST00000239926.4 + 7 1294 c.920C>T c.(919-921)tCa>tTa p.S307L MYOT_ENST00000509812.1_Intron|MYOT_ENST00000421631.2_Missense_Mutation_p.S123L|MYOT_ENST00000515645.1_Missense_Mutation_p.S192L|RP11-381K20.2_ENST00000508281.2_RNA|RP11-381K20.2_ENST00000514616.1_RNA NM_006790.2 NP_006781.1 Q9UBF9 MYOTI_HUMAN myotilin 307 Ig-like C2-type 1.|Necessary for interaction with ACTA1.|Necessary for interaction with FLNC. muscle contraction actin cytoskeleton|sarcolemma|sarcomere actin binding|structural constituent of muscle cervix(1)|kidney(2)|large_intestine(10)|lung(7)|ovary(1)|prostate(1)|urinary_tract(1) 23 KIRC - Kidney renal clear cell carcinoma(527;0.0101)|Kidney(363;0.0109) GGTCTTCATTCACTCATCTTT 0.453000 31 55 0 0 1 0 0 BAMBI 25805 broad.mit.edu 37 10 28970265 28970265 + Missense_Mutation SNP T T A TCGA-J9-A52D-01A-11D-A29Q-08 TCGA-J9-A52D-10A-01D-A29Q-08 Untested Somatic Phase_I WXS none Illumina GAIIx e63c8077-ee5f-4ff5-a416-8f73b2675957 14d30fae-711c-4b77-a452-4fd8eb1c039c g.chr10:28970265T>A ENST00000375533.3 + 2 711 c.155T>A c.(154-156)tTc>tAc p.F52Y NM_012342.2 NP_036474.1 Q13145 BAMBI_HUMAN BMP and activin membrane-bound inhibitor 52 cell migration|negative regulation of transforming growth factor beta receptor signaling pathway|positive regulation of canonical Wnt receptor signaling pathway|positive regulation of catenin import into nucleus|positive regulation of cell proliferation|positive regulation of epithelial to mesenchymal transition|positive regulation of protein binding|positive regulation of transcription, DNA-dependent|regulation of cell shape cytoplasm|integral to membrane|plasma membrane frizzled binding|type II transforming growth factor beta receptor binding central_nervous_system(5)|kidney(1)|large_intestine(4)|lung(4)|ovary(1)|prostate(1)|skin(1) 17 AGCGCCTGCTTCTCTAGACTT 0.498000 37 45 0 0 1 0 0 GAS2L2 246176 broad.mit.edu 37 17 34072175 34072175 + Missense_Mutation SNP G G A TCGA-J9-A52D-01A-11D-A29Q-08 TCGA-J9-A52D-10A-01D-A29Q-08 Untested Somatic Phase_I WXS none Illumina GAIIx e63c8077-ee5f-4ff5-a416-8f73b2675957 14d30fae-711c-4b77-a452-4fd8eb1c039c g.chr17:34072175G>A ENST00000254466.6 - 6 2368 c.2341C>T c.(2341-2343)Cgg>Tgg p.R781W GAS2L2_ENST00000587565.1_Missense_Mutation_p.R765W NM_139285.3 NP_644814.1 Q8NHY3 GA2L2_HUMAN growth arrest-specific 2 like 2 781 cell cycle arrest cytoplasm|cytoskeleton central_nervous_system(1)|endometrium(1)|large_intestine(7)|lung(14)|ovary(2)|pancreas(1)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 35 Ovarian(249;0.17) UCEC - Uterine corpus endometrioid carcinoma (308;0.0182) CTCCGGGGCCGAATCCTGGGT 0.612000 4 139 0 0 1 0 0 DNAH17 8632 broad.mit.edu 37 17 76472714 76472714 + Silent SNP G G A TCGA-J9-A52D-01A-11D-A29Q-08 TCGA-J9-A52D-10A-01D-A29Q-08 Untested Somatic Phase_I WXS none Illumina GAIIx e63c8077-ee5f-4ff5-a416-8f73b2675957 14d30fae-711c-4b77-a452-4fd8eb1c039c g.chr17:76472714G>A ENST00000389840.5 - 52 8176 c.8052C>T c.(8050-8052)gaC>gaT p.D2684D DNAH17_ENST00000585328.1_Silent_p.D2693D|DNAH17_ENST00000586052.1_Intron dynein, axonemal, heavy chain 17 p.D2693D(1) NS(2)|breast(7)|central_nervous_system(5)|cervix(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(1)|kidney(13)|large_intestine(8)|lung(37)|ovary(8)|prostate(7)|skin(4)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(3) 116 BRCA - Breast invasive adenocarcinoma(99;0.00294)|OV - Ovarian serous cystadenocarcinoma(97;0.0656) GGTCTTTTTCGTCAACCATTT 0.488000 11 12 0 0 1 0 0 ARL1 400 broad.mit.edu 37 12 101794883 101794883 + Missense_Mutation SNP T T C TCGA-J9-A52D-01A-11D-A29Q-08 TCGA-J9-A52D-10A-01D-A29Q-08 Untested Somatic Phase_I WXS none Illumina GAIIx e63c8077-ee5f-4ff5-a416-8f73b2675957 14d30fae-711c-4b77-a452-4fd8eb1c039c g.chr12:101794883T>C ENST00000261636.8 - 4 467 c.293A>G c.(292-294)gAc>gGc p.D98G ARL1_ENST00000536227.1_Missense_Mutation_p.D81G|ARL1_ENST00000551688.1_Intron|ARL1_ENST00000551828.1_Missense_Mutation_p.D81G|ARL1_ENST00000551671.1_Missense_Mutation_p.D98G|ARL1_ENST00000539055.1_Missense_Mutation_p.D52G NM_001177.4 NP_001168.1 P40616 ARL1_HUMAN ADP-ribosylation factor-like 1 98 small GTPase mediated signal transduction Golgi membrane enzyme activator activity|GTP binding|GTPase activity|metal ion binding|protein binding central_nervous_system(1)|upper_aerodigestive_tract(1) 2 Lung NSC(355;2.1e-05)|Breast(359;0.00015)|Myeloproliferative disorder(1001;0.163) GBM - Glioblastoma multiforme(134;1.67e-09)|BRCA - Breast invasive adenocarcinoma(302;0.0125) GCCAATTCGGTCTCGGTCACA 0.373000 24 35 0 0 1 0 0 NBAS 51594 broad.mit.edu 37 2 15432834 15432834 + Silent SNP G G A TCGA-J9-A52D-01A-11D-A29Q-08 TCGA-J9-A52D-10A-01D-A29Q-08 Untested Somatic Phase_I WXS none Illumina GAIIx e63c8077-ee5f-4ff5-a416-8f73b2675957 14d30fae-711c-4b77-a452-4fd8eb1c039c g.chr2:15432834G>A ENST00000281513.5 - 41 4879 c.4854C>T c.(4852-4854)caC>caT p.H1618H NBAS_ENST00000441750.1_Silent_p.H1498H NM_015909.3 NP_056993.2 A2RRP1 NBAS_HUMAN neuroblastoma amplified sequence 1618 NS(4)|breast(4)|central_nervous_system(3)|endometrium(6)|kidney(5)|large_intestine(12)|liver(1)|lung(54)|ovary(2)|pancreas(3)|prostate(9)|skin(6)|stomach(3) 112 GCCAGGCTTCGTGCTCATGTC 0.463000 26 37 0 0 1 0 0 POC5 134359 broad.mit.edu 37 5 74973609 74973609 + Missense_Mutation SNP G G A TCGA-J9-A52D-01A-11D-A29Q-08 TCGA-J9-A52D-10A-01D-A29Q-08 Untested Somatic Phase_I WXS none Illumina GAIIx e63c8077-ee5f-4ff5-a416-8f73b2675957 14d30fae-711c-4b77-a452-4fd8eb1c039c g.chr5:74973609G>A ENST00000428202.2 - 11 1763 c.1574C>T c.(1573-1575)cCa>cTa p.P525L POC5_ENST00000380475.2_Intron|POC5_ENST00000446329.2_Missense_Mutation_p.P500L|POC5_ENST00000510798.1_Intron|POC5_ENST00000514838.2_Missense_Mutation_p.P497L NM_001099271.1 NP_001092741.1 Q8NA72 POC5_HUMAN POC5 centriolar protein 525 cell cycle centriole breast(1)|endometrium(1)|kidney(2)|large_intestine(2)|lung(4)|pancreas(1)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 15 CACTGTGACTGGATGATGTTT 0.373000 4 38 0 0 1 0 0 DNAJC24 120526 broad.mit.edu 37 11 31436377 31436377 + Missense_Mutation SNP G G T TCGA-J9-A52D-01A-11D-A29Q-08 TCGA-J9-A52D-10A-01D-A29Q-08 Untested Somatic Phase_I WXS none Illumina GAIIx e63c8077-ee5f-4ff5-a416-8f73b2675957 14d30fae-711c-4b77-a452-4fd8eb1c039c g.chr11:31436377G>T ENST00000536040.1 + 3 220 c.128G>T c.(127-129)aGt>aTt p.S43I DNAJC24_ENST00000465995.1_Missense_Mutation_p.S44I Q6P3W2 DJC24_HUMAN DnaJ (Hsp40) homolog, subfamily C, member 24 43 J. protein folding heat shock protein binding|metal ion binding|unfolded protein binding breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|skin(1)|upper_aerodigestive_tract(2) 11 GATAAACAAAGTACAGATGTA 0.398000 9 68 7.48243e-07 7.91411e-07 1 1 0 ECI1 1632 broad.mit.edu 37 16 2293366 2293366 + Silent SNP G G A TCGA-J9-A52D-01A-11D-A29Q-08 TCGA-J9-A52D-10A-01D-A29Q-08 Untested Somatic Phase_I WXS none Illumina GAIIx e63c8077-ee5f-4ff5-a416-8f73b2675957 14d30fae-711c-4b77-a452-4fd8eb1c039c g.chr16:2293366G>A ENST00000301729.4 - 5 563 c.516C>T c.(514-516)taC>taT p.Y172Y ECI1_ENST00000562238.1_Intron|ECI1_ENST00000570258.1_Silent_p.Y113Y NM_001919.3 NP_001910.2 P42126 ECI1_HUMAN enoyl-CoA delta isomerase 1 172 fatty acid beta-oxidation mitochondrial matrix dodecenoyl-CoA delta-isomerase activity endometrium(1)|large_intestine(2)|lung(6) 9 GTCCTATGCAGTACCTGGGGT 0.647000 76 68 0 0 1 0 0 RXFP3 51289 broad.mit.edu 37 5 33937288 33937288 + Nonsense_Mutation SNP G G A TCGA-J9-A52D-01A-11D-A29Q-08 TCGA-J9-A52D-10A-01D-A29Q-08 Untested Somatic Phase_I WXS none Illumina GAIIx e63c8077-ee5f-4ff5-a416-8f73b2675957 14d30fae-711c-4b77-a452-4fd8eb1c039c g.chr5:33937288G>A ENST00000330120.3 + 1 798 c.443G>A c.(442-444)tGg>tAg p.W148* NM_016568.3 NP_057652.1 Q9NSD7 RL3R1_HUMAN relaxin/insulin-like family peptide receptor 3 148 integral to plasma membrane N-formyl peptide receptor activity endometrium(4)|large_intestine(9)|lung(24)|ovary(1)|skin(1)|upper_aerodigestive_tract(3) 42 GACTTCAAATGGCCCTTCGGC 0.552000 63 63 0 0 1 0 0 AKAP4 8852 broad.mit.edu 37 X 49955714 49955714 + Silent SNP T T A TCGA-J9-A52D-01A-11D-A29Q-08 TCGA-J9-A52D-10A-01D-A29Q-08 Untested Somatic Phase_I WXS none Illumina GAIIx e63c8077-ee5f-4ff5-a416-8f73b2675957 14d30fae-711c-4b77-a452-4fd8eb1c039c g.chrX:49955714T>A ENST00000376056.2 - 6 2577 c.2427A>T c.(2425-2427)gtA>gtT p.V809V AKAP4_ENST00000481402.1_5'UTR|AKAP4_ENST00000376064.3_Silent_p.V809V|AKAP4_ENST00000358526.2_Silent_p.V818V|AKAP4_ENST00000376058.2_Silent_p.V435V Q5JQC9 AKAP4_HUMAN A kinase (PRKA) anchor protein 4 818 cell projection organization|single fertilization|sperm motility cAMP-dependent protein kinase complex|cilium|cytoskeleton|microtubule-based flagellum protein kinase A binding NS(2)|breast(3)|central_nervous_system(2)|cervix(1)|endometrium(2)|kidney(6)|large_intestine(6)|lung(14)|ovary(1)|skin(4) 41 Ovarian(276;0.236) GAAGACCTCCTACACTGTACC 0.512000 50 10 0 0 1 0 0 ELN 2006 broad.mit.edu 37 7 73475451 73475451 + Missense_Mutation SNP G G A TCGA-J9-A52D-01A-11D-A29Q-08 TCGA-J9-A52D-10A-01D-A29Q-08 Untested Somatic Phase_I WXS none Illumina GAIIx e63c8077-ee5f-4ff5-a416-8f73b2675957 14d30fae-711c-4b77-a452-4fd8eb1c039c g.chr7:73475451G>A ENST00000252034.7 + 26 2167 c.1768G>A c.(1768-1770)Gct>Act p.A590T ELN_ENST00000320492.7_Missense_Mutation_p.A509T|ELN_ENST00000380575.4_Missense_Mutation_p.A561T|ELN_ENST00000380576.5_Missense_Mutation_p.A571T|ELN_ENST00000358929.4_Missense_Mutation_p.A658T|CTB-51J22.1_ENST00000435932.1_RNA|ELN_ENST00000414324.1_Missense_Mutation_p.A566T|ELN_ENST00000380553.4_Missense_Mutation_p.A454T|ELN_ENST00000380584.4_Missense_Mutation_p.A542T|ELN_ENST00000380562.4_Missense_Mutation_p.A596T|ELN_ENST00000429192.1_Missense_Mutation_p.A576T|ELN_ENST00000458204.1_Missense_Mutation_p.A580T|ELN_ENST00000357036.5_Missense_Mutation_p.A595T|ELN_ENST00000445912.1_Missense_Mutation_p.A590T|ELN_ENST00000320399.6_Missense_Mutation_p.A623T NM_000501.2 NP_000492.2 P15502 ELN_HUMAN elastin 652 Ala-rich. blood circulation|cell proliferation|organ morphogenesis|respiratory gaseous exchange proteinaceous extracellular matrix extracellular matrix constituent conferring elasticity|protein binding breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(10)|ovary(4)|pancreas(2)|prostate(1)|skin(2)|stomach(1) 32 Lung NSC(55;0.159) Rofecoxib(DB00533) CCTGGCTGCCGCTAAAGCAGC 0.592000 T PAX5 B-ALL """Supravalvular Aortic Stenosis, Cutis laxa , Williams-Beuren Syndrome""" 47 44 0 0 1 0 0 DPY19L2 283417 broad.mit.edu 37 12 63954301 63954301 + Missense_Mutation SNP C C A TCGA-J9-A52D-01A-11D-A29Q-08 TCGA-J9-A52D-10A-01D-A29Q-08 Untested Somatic Phase_I WXS none Illumina GAIIx e63c8077-ee5f-4ff5-a416-8f73b2675957 14d30fae-711c-4b77-a452-4fd8eb1c039c g.chr12:63954301C>A ENST00000324472.4 - 22 2451 c.2268G>T c.(2266-2268)aaG>aaT p.K756N DPY19L2_ENST00000413230.2_Missense_Mutation_p.K203N NM_173812.4 NP_776173.3 Q6NUT2 D19L2_HUMAN dpy-19-like 2 (C. elegans) 756 multicellular organismal development|spermatid development integral to membrane breast(2)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(8)|lung(19)|ovary(1)|prostate(5)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1) 45 GBM - Glioblastoma multiforme(1;2.77e-05) GBM - Glioblastoma multiforme(28;0.044) CTCAGTTAACCTTTAATACTC 0.413000 6 49 0.0215528 0.0215528 1 1 0 CFH 3075 broad.mit.edu 37 1 196645165 196645165 + Missense_Mutation SNP G G A TCGA-J9-A52D-01A-11D-A29Q-08 TCGA-J9-A52D-10A-01D-A29Q-08 Untested Somatic Phase_I WXS none Illumina GAIIx e63c8077-ee5f-4ff5-a416-8f73b2675957 14d30fae-711c-4b77-a452-4fd8eb1c039c g.chr1:196645165G>A ENST00000367429.4 + 4 637 c.397G>A c.(397-399)Gga>Aga p.G133R CFH_ENST00000439155.2_Missense_Mutation_p.G133R|CFH_ENST00000359637.2_Missense_Mutation_p.G133R NM_000186.3 NP_000177.2 P08603 CFAH_HUMAN complement factor H 133 Sushi 2. complement activation, alternative pathway extracellular space p.G133R(1) NS(3)|breast(4)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(8)|large_intestine(24)|lung(33)|ovary(1)|prostate(5)|skin(9)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(2) 101 TGACACAGATGGATGGACCAA 0.289000 27 34 0 0 1 0 0 CTDSP1 58190 broad.mit.edu 37 2 219269079 219269081 + In_Frame_Del DEL CTT CTT - TCGA-J9-A52D-01A-11D-A29Q-08 TCGA-J9-A52D-10A-01D-A29Q-08 Untested Somatic Phase_I WXS none Illumina GAIIx e63c8077-ee5f-4ff5-a416-8f73b2675957 14d30fae-711c-4b77-a452-4fd8eb1c039c g.chr2:219269079_219269081delCTT ENST00000273062.2 + 7 1053_1055 c.717_719delCTT c.(715-720)ccc>cc p.PF239del CTDSP1_ENST00000443891.1_In_Frame_Del_p.PF238del|CTDSP1_ENST00000488627.1_3'UTR NM_021198.2|NM_182642.2 NP_067021.1|NP_872580.1 Q9GZU7 CTDS1_HUMAN CTD (carboxy-terminal domain, RNA polymerase II, polypeptide A) small phosphatase 1 239 FCP1 homology. protein dephosphorylation|regulation of transcription from RNA polymerase II promoter nucleus CTD phosphatase activity|metal ion binding|protein binding NS(1)|large_intestine(2)|lung(3)|ovary(1)|skin(1) 8 Renal(207;0.0915) Epithelial(149;9.96e-07)|all cancers(144;0.00017)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942) ACCTCCTCCCCTTCTTCGAGCAA 0.626 66 103 --- --- --- --- CDC20B 166979 broad.mit.edu 37 5 54442517 54442518 + Frame_Shift_Ins INS - - TC TCGA-J9-A52D-01A-11D-A29Q-08 TCGA-J9-A52D-10A-01D-A29Q-08 Untested Somatic Phase_I WXS none Illumina GAIIx e63c8077-ee5f-4ff5-a416-8f73b2675957 14d30fae-711c-4b77-a452-4fd8eb1c039c g.chr5:54442517_54442518insTC ENST00000334206.5 - 3 469_470 c.293_294insGA c.(292-294)tctfs p.S98fs CDC20B_ENST00000296733.1_Frame_Shift_Ins_p.S98fs|CDC20B_ENST00000381375.2_Frame_Shift_Ins_p.S98fs|CDC20B_ENST00000331730.3_Frame_Shift_Ins_p.S77fs|CDC20B_ENST00000322374.6_Frame_Shift_Ins_p.S98fs Q86Y33 CD20B_HUMAN cell division cycle 20B 98 kidney(1)|large_intestine(5)|lung(7)|skin(2)|stomach(3)|upper_aerodigestive_tract(1) 19 Lung NSC(810;0.000744)|Breast(144;0.159)|Prostate(74;0.194) LUSC - Lung squamous cell carcinoma(15;0.225) CTTCTGGGAGGTAGGTGGTTGA 0.550 OREG0016610 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 33 45 --- --- --- --- RP11-1252I4.2 0 broad.mit.edu 37 5 177398373 177398396 + RNA DEL AGGACGAAGAGCTGGAGAGCGCCA AGGACGAAGAGCTGGAGAGCGCCA - rs70994948 TCGA-J9-A52D-01A-11D-A29Q-08 TCGA-J9-A52D-10A-01D-A29Q-08 Untested Somatic Phase_I WXS none Illumina GAIIx e63c8077-ee5f-4ff5-a416-8f73b2675957 14d30fae-711c-4b77-a452-4fd8eb1c039c g.chr5:177398373_177398396delAGGACGAAGAGCTGGAGAGCGCCA ENST00000511650.1 + 0 145 GTCCCCGGGGAGGACGAAGAGCTGGAGAGCGCCAAGGACGACGA 0.683 5 5 --- --- --- --- TULP1 7287 broad.mit.edu 37 6 35480000 35480000 + Frame_Shift_Del DEL G G - TCGA-J9-A52D-01A-11D-A29Q-08 TCGA-J9-A52D-10A-01D-A29Q-08 Untested Somatic Phase_I WXS none Illumina GAIIx e63c8077-ee5f-4ff5-a416-8f73b2675957 14d30fae-711c-4b77-a452-4fd8eb1c039c g.chr6:35480000delG ENST00000229771.6 - 3 226 c.147delC c.(145-147)ccfs p.P49fs TULP1_ENST00000322263.4_Frame_Shift_Del_p.P49fs NM_003322.3 NP_003313.3 O00294 TULP1_HUMAN tubby like protein 1 49 dendrite development|eye photoreceptor cell development|phagocytosis|photoreceptor cell maintenance|positive regulation of phagocytosis cell junction|cytoplasm|extracellular region|photoreceptor inner segment|photoreceptor outer segment|synapse actin filament binding|phosphatidylinositol-4,5-bisphosphate binding central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(2)|lung(5)|ovary(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1) 19 AGGGGGATTCGGGGGCCTCCG 0.721 2 4 --- --- --- --- MLEC 9761 broad.mit.edu 37 12 121134166 121134168 + In_Frame_Del DEL GAA GAA - TCGA-J9-A52D-01A-11D-A29Q-08 TCGA-J9-A52D-10A-01D-A29Q-08 Untested Somatic Phase_I WXS none Illumina GAIIx e63c8077-ee5f-4ff5-a416-8f73b2675957 14d30fae-711c-4b77-a452-4fd8eb1c039c g.chr12:121134166_121134168delGAA ENST00000228506.3 + 5 1125_1127 c.697_699delGAA c.(697-699)del p.E238del MLEC_ENST00000412616.2_In_Frame_Del_p.RK154del NM_014730.2 NP_055545.1 Q14165 MLEC_HUMAN malectin 238 Poly-Glu. post-translational protein modification|protein folding|protein N-linked glycosylation via asparagine endoplasmic reticulum membrane|integral to membrane carbohydrate binding p.E233E(1) breast(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(8)|ovary(1)|prostate(1) 16 gaaagaagaggaagaagaagaag 0.458 7 159 --- --- --- --- CNTNAP1 8506 broad.mit.edu 37 17 40837976 40837976 + Splice_Site DEL C C - TCGA-J9-A52D-01A-11D-A29Q-08 TCGA-J9-A52D-10A-01D-A29Q-08 Untested Somatic Phase_I WXS none Illumina GAIIx e63c8077-ee5f-4ff5-a416-8f73b2675957 14d30fae-711c-4b77-a452-4fd8eb1c039c g.chr17:40837976delC ENST00000264638.4 + 6 934 c.715_splice c.e6-1 p.G239_splice CTD-3193K9.3_ENST00000592440.1_RNA NM_003632.2 NP_003623.1 P78357 CNTP1_HUMAN contactin associated protein 1 239 Laminin G-like 1. axon guidance|cell adhesion paranode region of axon receptor activity|receptor binding|SH3 domain binding|SH3/SH2 adaptor activity NS(1)|breast(4)|cervix(1)|endometrium(5)|kidney(3)|large_intestine(11)|lung(15)|ovary(5)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 49 Breast(137;0.000143) BRCA - Breast invasive adenocarcinoma(366;0.143) CACCCTCAGGCAGCAGCCCTA 0.607 49 68 --- --- --- --- CYP2A6 1548 broad.mit.edu 37 19 41350562 41350562 + Frame_Shift_Del DEL C C - TCGA-J9-A52D-01A-11D-A29Q-08 TCGA-J9-A52D-10A-01D-A29Q-08 Untested Somatic Phase_I WXS none Illumina GAIIx e63c8077-ee5f-4ff5-a416-8f73b2675957 14d30fae-711c-4b77-a452-4fd8eb1c039c g.chr19:41350562delC ENST00000301141.5 - 8 1297 c.1277delG c.(1276-1278)atfs p.S426fs CTC-490E21.12_ENST00000601627.1_Intron NM_000762.5 NP_000753.3 P11509 CP2A6_HUMAN cytochrome P450, family 2, subfamily A, polypeptide 6 426 coumarin catabolic process|exogenous drug catabolic process|steroid metabolic process|xenobiotic metabolic process endoplasmic reticulum membrane|microsome aromatase activity|coumarin 7-hydroxylase activity|electron carrier activity|enzyme binding|heme binding breast(1)|central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(7)|lung(9)|ovary(3)|prostate(5)|skin(2)|upper_aerodigestive_tract(2) 37 LUSC - Lung squamous cell carcinoma(20;0.000219)|Lung(22;0.000959) Chlorzoxazone(DB00356)|Diethylstilbestrol(DB00255)|Estradiol(DB00783)|Ethinyl Estradiol(DB00977)|Formoterol(DB00983)|Halothane(DB01159)|Letrozole(DB01006)|Methoxsalen(DB00553)|Metyrapone(DB01011)|Nicotine(DB00184)|Pilocarpine(DB01085)|Tolbutamide(DB01124)|Tranylcypromine(DB00752) AAAAGCATCACTCTTCTTAAA 0.567 86 68 --- --- --- --- C20orf96 140680 broad.mit.edu 37 20 257752 257752 + Frame_Shift_Del DEL T T - TCGA-J9-A52D-01A-11D-A29Q-08 TCGA-J9-A52D-10A-01D-A29Q-08 Untested Somatic Phase_I WXS none Illumina GAIIx e63c8077-ee5f-4ff5-a416-8f73b2675957 14d30fae-711c-4b77-a452-4fd8eb1c039c g.chr20:257752delT ENST00000360321.2 - 8 896 c.758delA c.(757-759)agfs p.K253fs C20orf96_ENST00000382369.5_Frame_Shift_Del_p.K218fs|C20orf96_ENST00000400269.3_Frame_Shift_Del_p.K195fs NM_080571.1|NM_153269.2 NP_542138.1|NP_695001.2 Q9NUD7 CT096_HUMAN chromosome 20 open reading frame 96 253 endometrium(3)|large_intestine(2)|lung(4)|prostate(1)|skin(1)|urinary_tract(1) 12 all_cancers(10;0.00959)|Lung NSC(37;0.227) OV - Ovarian serous cystadenocarcinoma(29;0.149) TTCCAGGACCTTTCTGCGCAT 0.552 125 178 --- --- --- --- AP001604.3 0 broad.mit.edu 37 21 28793489 28793490 + RNA INS - - T rs144948060 TCGA-J9-A52D-01A-11D-A29Q-08 TCGA-J9-A52D-10A-01D-A29Q-08 Untested Somatic Phase_I WXS none Illumina GAIIx e63c8077-ee5f-4ff5-a416-8f73b2675957 14d30fae-711c-4b77-a452-4fd8eb1c039c g.chr21:28793489_28793490insT ENST00000420186.2 - 0 202 atttttttttcttttttttttt 0.347 4 7 --- --- --- --- AKAP4 8852 broad.mit.edu 37 X 49955731 49955733 + In_Frame_Del DEL CTG CTG - TCGA-J9-A52D-01A-11D-A29Q-08 TCGA-J9-A52D-10A-01D-A29Q-08 Untested Somatic Phase_I WXS none Illumina GAIIx e63c8077-ee5f-4ff5-a416-8f73b2675957 14d30fae-711c-4b77-a452-4fd8eb1c039c g.chrX:49955731_49955733delCTG ENST00000376056.2 - 6 2558_2560 c.2408_2410delCAG c.(2407-2412)gag>g p.AE803del AKAP4_ENST00000376058.2_In_Frame_Del_p.AE429del|AKAP4_ENST00000376064.3_In_Frame_Del_p.AE803del|AKAP4_ENST00000358526.2_In_Frame_Del_p.AE812del|AKAP4_ENST00000481402.1_5'UTR Q5JQC9 AKAP4_HUMAN A kinase (PRKA) anchor protein 4 812 cell projection organization|single fertilization|sperm motility cAMP-dependent protein kinase complex|cilium|cytoskeleton|microtubule-based flagellum protein kinase A binding NS(2)|breast(3)|central_nervous_system(2)|cervix(1)|endometrium(2)|kidney(6)|large_intestine(6)|lung(14)|ovary(1)|skin(4) 41 Ovarian(276;0.236) TACCCCTTCTCTGCTGCTTTAGC 0.498 58 18 --- --- --- ---