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 RPL11 6135 broad.mit.edu 37 1 24020353 24020353 + Missense_Mutation SNP T T C TCGA-V1-A8WS-01A-11D-A377-08 TCGA-V1-A8WS-10A-01D-A37A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8340e524-5498-4243-b80f-416915f3604c ba0467ad-64f1-43df-81e1-529e66e6e6fe g.chr1:24020353T>C ENST00000374550.3 + 3 259 c.214T>C c.(214-216)Tgc>Cgc p.C72R RPL11_ENST00000482370.1_3'UTR NM_000975.3|NM_001199802.1 NP_000966.2|NP_001186731.1 P62913 RL11_HUMAN ribosomal protein L11 72 endocrine pancreas development|protein localization to nucleus|protein targeting|ribosomal large subunit biogenesis|rRNA processing|translational elongation|translational termination|viral transcription cytosolic large ribosomal subunit|nucleolus protein binding|rRNA binding|structural constituent of ribosome central_nervous_system(1)|kidney(1)|large_intestine(2)|lung(2) 6 Colorectal(325;3.46e-05)|Lung NSC(340;0.000112)|all_lung(284;0.00016)|Renal(390;0.000219)|Breast(348;0.0044)|Ovarian(437;0.00539)|Myeloproliferative disorder(586;0.0255) UCEC - Uterine corpus endometrioid carcinoma (279;0.0227)|OV - Ovarian serous cystadenocarcinoma(117;2.13e-24)|Colorectal(126;5.06e-08)|COAD - Colon adenocarcinoma(152;2.92e-06)|GBM - Glioblastoma multiforme(114;4.4e-06)|BRCA - Breast invasive adenocarcinoma(304;0.000954)|KIRC - Kidney renal clear cell carcinoma(1967;0.00322)|STAD - Stomach adenocarcinoma(196;0.0124)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.0837)|LUSC - Lung squamous cell carcinoma(448;0.185) TGCTGTCCACTGCACAGTTCG 0.478 15 19 --- --- --- --- SPTA1 6708 broad.mit.edu 37 1 158648191 158648191 + Splice_Site SNP C C A TCGA-V1-A8WS-01A-11D-A377-08 TCGA-V1-A8WS-10A-01D-A37A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8340e524-5498-4243-b80f-416915f3604c ba0467ad-64f1-43df-81e1-529e66e6e6fe g.chr1:158648191C>A ENST00000368147.4 - 6 992 c.812G>T c.(811-813)aGg>aTg p.R271M NM_003126.2 NP_003117.2 P02549 SPTA1_HUMAN spectrin, alpha, erythrocytic 1 (elliptocytosis 2) actin filament capping|actin filament organization|axon guidance|regulation of cell shape cytosol|intrinsic to internal side of plasma membrane|spectrin|spectrin-associated cytoskeleton actin filament binding|calcium ion binding|structural constituent of cytoskeleton NS(3)|breast(7)|cervix(1)|endometrium(22)|kidney(9)|large_intestine(29)|liver(2)|lung(183)|ovary(5)|prostate(18)|skin(11)|soft_tissue(1)|stomach(1)|upper_aerodigestive_tract(9)|urinary_tract(6) 307 all_hematologic(112;0.0378) AGATCCATACCTTTTGAATCG 0.423 4 72 --- --- --- --- C4orf17 84103 broad.mit.edu 37 4 100434271 100434271 + Silent SNP G G A TCGA-V1-A8WS-01A-11D-A377-08 TCGA-V1-A8WS-10A-01D-A37A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8340e524-5498-4243-b80f-416915f3604c ba0467ad-64f1-43df-81e1-529e66e6e6fe g.chr4:100434271G>A ENST00000514652.1 + 2 387 c.33G>A c.(31-33)caG>caA p.Q11Q C4orf17_ENST00000326581.4_Silent_p.Q11Q Q53FE4 CD017_HUMAN chromosome 4 open reading frame 17 11 central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(9)|prostate(1)|urinary_tract(3) 18 OV - Ovarian serous cystadenocarcinoma(123;2.08e-08) CTGCTCTTCAGATCGAGGGCA 0.463 8 51 --- --- --- --- PROP1 5626 broad.mit.edu 37 5 177419968 177419968 + Silent SNP G G A TCGA-V1-A8WS-01A-11D-A377-08 TCGA-V1-A8WS-10A-01D-A37A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8340e524-5498-4243-b80f-416915f3604c ba0467ad-64f1-43df-81e1-529e66e6e6fe g.chr5:177419968G>A ENST00000308304.2 - 3 731 c.423C>T c.(421-423)gcC>gcT p.A141A NM_006261.4 NP_006252 O75360 PROP1_HUMAN PROP paired-like homeobox 1 141 central nervous system development nucleus sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity endometrium(1)|large_intestine(2)|lung(9)|stomach(1) 13 all_cancers(89;0.00176)|Renal(175;0.000269)|Lung NSC(126;0.00858)|all_lung(126;0.0139) all_neural(177;0.00409)|Medulloblastoma(196;0.00498)|all_hematologic(541;0.21) Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178) TGGAAAAGGCGGCAGGAGACA 0.587 3 14 --- --- --- --- C6orf165 154313 broad.mit.edu 37 6 88120351 88120351 + Missense_Mutation SNP A A G TCGA-V1-A8WS-01A-11D-A377-08 TCGA-V1-A8WS-10A-01D-A37A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8340e524-5498-4243-b80f-416915f3604c ba0467ad-64f1-43df-81e1-529e66e6e6fe g.chr6:88120351A>G ENST00000507897.1 + 3 240 c.157A>G c.(157-159)Acc>Gcc p.T53A C6ORF165_ENST00000369562.4_Missense_Mutation_p.T53A Q8IYR0 CF165_HUMAN chromosome 6 open reading frame 165 53 NS(1)|central_nervous_system(1)|large_intestine(5)|lung(8)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 19 all_cancers(76;3.93e-06)|Acute lymphoblastic leukemia(125;3.55e-10)|Prostate(29;3.51e-09)|all_hematologic(105;3.29e-06)|all_epithelial(107;0.00575) BRCA - Breast invasive adenocarcinoma(108;0.0419) CATGGATAGAACCCTCATGAA 0.353 3 44 --- --- --- --- PON2 5445 broad.mit.edu 37 7 95039375 95039375 + Missense_Mutation SNP T T C TCGA-V1-A8WS-01A-11D-A377-08 TCGA-V1-A8WS-10A-01D-A37A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8340e524-5498-4243-b80f-416915f3604c ba0467ad-64f1-43df-81e1-529e66e6e6fe g.chr7:95039375T>C ENST00000536183.1 - 6 779 c.596A>G c.(595-597)tAt>tGt p.Y199C PON2_ENST00000222572.3_Missense_Mutation_p.Y178C|PON2_ENST00000433091.2_Missense_Mutation_p.Y166C|PON2_ENST00000483292.1_5'UTR NM_000305.2 NP_000296.2 Q15165 PON2_HUMAN paraoxonase 2 178 aromatic compound catabolic process extracellular region|plasma membrane arylesterase activity|identical protein binding|metal ion binding breast(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(3)|prostate(1) 9 all_cancers(62;9.35e-11)|all_epithelial(64;3.37e-09) STAD - Stomach adenocarcinoma(171;0.0151) ATTTGTGGCATAGAAATGTGC 0.368 16 21 --- --- --- --- CCDC171 203238 broad.mit.edu 37 9 15678826 15678826 + Missense_Mutation SNP A A G TCGA-V1-A8WS-01A-11D-A377-08 TCGA-V1-A8WS-10A-01D-A37A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8340e524-5498-4243-b80f-416915f3604c ba0467ad-64f1-43df-81e1-529e66e6e6fe g.chr9:15678826A>G ENST00000380701.3 + 10 1475 c.1147A>G c.(1147-1149)Ata>Gta p.I383V CCDC171_ENST00000297641.3_Missense_Mutation_p.I383V NM_173550.2 NP_775821.2 Q6TFL3 CI093_HUMAN coiled-coil domain containing 171 383 GAAAGTAATTATAGACCTTTC 0.313 6 37 --- --- --- --- RALGPS1 9649 broad.mit.edu 37 9 129977092 129977092 + Missense_Mutation SNP G G T TCGA-V1-A8WS-01A-11D-A377-08 TCGA-V1-A8WS-10A-01D-A37A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8340e524-5498-4243-b80f-416915f3604c ba0467ad-64f1-43df-81e1-529e66e6e6fe g.chr9:129977092G>T ENST00000259351.5 + 18 1882 c.1615G>T c.(1615-1617)Gat>Tat p.D539Y RP13-225O21.2_ENST00000453199.1_RNA|RALGPS1_ENST00000424082.2_Missense_Mutation_p.D497Y|RALGPS1_ENST00000373434.1_Missense_Mutation_p.D489Y NM_014636.2 NP_055451.1 Q5JS13 RGPS1_HUMAN Ral GEF with PH domain and SH3 binding motif 1 539 PH.|Required for stimulation of nucleotide exchange by RALA. small GTPase mediated signal transduction cytoplasm|plasma membrane guanyl-nucleotide exchange factor activity kidney(2)|large_intestine(6)|lung(7)|ovary(1)|skin(1)|upper_aerodigestive_tract(2) 19 CAAGCATTTGGATGATGCATG 0.438 OREG0019504 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 23 54 --- --- --- --- GRIA4 2893 broad.mit.edu 37 11 105623908 105623908 + Missense_Mutation SNP A A G TCGA-V1-A8WS-01A-11D-A377-08 TCGA-V1-A8WS-10A-01D-A37A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8340e524-5498-4243-b80f-416915f3604c ba0467ad-64f1-43df-81e1-529e66e6e6fe g.chr11:105623908A>G ENST00000393127.2 + 4 895 c.449A>G c.(448-450)gAa>gGa p.E150G GRIA4_ENST00000428631.2_Missense_Mutation_p.E150G|GRIA4_ENST00000393125.2_Missense_Mutation_p.E150G|GRIA4_ENST00000525187.1_Missense_Mutation_p.E150G|GRIA4_ENST00000282499.5_Missense_Mutation_p.E150G|GRIA4_ENST00000530497.1_Missense_Mutation_p.E150G NM_001077243.2 NP_001070711 P48058 GRIA4_HUMAN glutamate receptor, ionotropic, AMPA 4 150 glutamate signaling pathway|synaptic transmission cell junction|endocytic vesicle membrane|integral to membrane|postsynaptic membrane alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity|extracellular-glutamate-gated ion channel activity NS(1)|breast(1)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(24)|liver(2)|lung(25)|ovary(4)|pancreas(1)|prostate(3)|skin(5)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(6) 82 Melanoma(852;0.000902)|Acute lymphoblastic leukemia(157;0.000994)|all_hematologic(158;0.0017)|Breast(348;0.0323) BRCA - Breast invasive adenocarcinoma(274;0.000147)|Epithelial(105;0.0291)|all cancers(92;0.0899) L-Glutamic Acid(DB00142) GATCACTACGAATGGAACTGT 0.438 9 76 --- --- --- --- ZNF770 54989 broad.mit.edu 37 15 35273990 35273990 + Missense_Mutation SNP G G A TCGA-V1-A8WS-01A-11D-A377-08 TCGA-V1-A8WS-10A-01D-A37A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8340e524-5498-4243-b80f-416915f3604c ba0467ad-64f1-43df-81e1-529e66e6e6fe g.chr15:35273990G>A ENST00000356321.4 - 3 1990 c.1646C>T c.(1645-1647)tCa>tTa p.S549L NM_014106.3 NP_054825.2 Q6IQ21 ZN770_HUMAN zinc finger protein 770 549 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding breast(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(2)|large_intestine(7)|lung(11)|ovary(1) 29 Lung NSC(122;4.59e-10)|all_lung(180;8.78e-09) all cancers(64;1.97e-18)|GBM - Glioblastoma multiforme(113;2.11e-07)|BRCA - Breast invasive adenocarcinoma(123;0.0643) ATTATTACCTGAATGATTAGA 0.368 8 96 --- --- --- --- ATF7IP2 80063 broad.mit.edu 37 16 10575982 10575982 + Missense_Mutation SNP C C T TCGA-V1-A8WS-01A-11D-A377-08 TCGA-V1-A8WS-10A-01D-A37A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8340e524-5498-4243-b80f-416915f3604c ba0467ad-64f1-43df-81e1-529e66e6e6fe g.chr16:10575982C>T ENST00000396560.2 + 12 2152 c.1925C>T c.(1924-1926)aCt>aTt p.T642I ATF7IP2_ENST00000324570.5_3'UTR|ATF7IP2_ENST00000396559.1_3'UTR|ATF7IP2_ENST00000356427.2_Missense_Mutation_p.T642I|ATF7IP2_ENST00000543967.1_Missense_Mutation_p.T186I NM_024997.3 NP_079273.2 Q5U623 MCAF2_HUMAN activating transcription factor 7 interacting protein 2 642 Fibronectin type-III. regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus large_intestine(3) 3 ATGGCCTGTACTTTATCTCAG 0.358 49 80 --- --- --- --- SLC38A7 55238 broad.mit.edu 37 16 58713793 58713793 + Missense_Mutation SNP C C T TCGA-V1-A8WS-01A-11D-A377-08 TCGA-V1-A8WS-10A-01D-A37A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8340e524-5498-4243-b80f-416915f3604c ba0467ad-64f1-43df-81e1-529e66e6e6fe g.chr16:58713793C>T ENST00000570101.1 - 2 1121 c.238G>A c.(238-240)Ggg>Agg p.G80R SLC38A7_ENST00000219320.4_Missense_Mutation_p.G80R|SLC38A7_ENST00000564391.1_Missense_Mutation_p.G80R|SLC38A7_ENST00000564100.1_Missense_Mutation_p.G80R|SLC38A7_ENST00000566953.1_Intron|SLC38A7_ENST00000564010.1_Intron Q9NVC3 S38A7_HUMAN solute carrier family 38, member 7 80 amino acid transport|sodium ion transport integral to membrane endometrium(1)|large_intestine(2)|lung(6)|ovary(2)|skin(1)|upper_aerodigestive_tract(1) 13 GCCACGCCCCCCGCAGTGCTG 0.622 8 10 --- --- --- --- ZNF468 90333 broad.mit.edu 37 19 53343985 53343985 + Missense_Mutation SNP T T G TCGA-V1-A8WS-01A-11D-A377-08 TCGA-V1-A8WS-10A-01D-A37A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8340e524-5498-4243-b80f-416915f3604c ba0467ad-64f1-43df-81e1-529e66e6e6fe g.chr19:53343985T>G ENST00000595646.1 - 4 1682 c.1562A>C c.(1561-1563)aAg>aCg p.K521T ZNF468_ENST00000396409.4_Missense_Mutation_p.K468T|ZNF28_ENST00000594602.1_Intron|ZNF468_ENST00000243639.4_3'UTR|ZNF468_ENST00000390651.4_Missense_Mutation_p.K468T Q5VIY5 ZN468_HUMAN zinc finger protein 468 521 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding breast(1)|endometrium(3)|kidney(2)|large_intestine(5)|lung(5)|ovary(2)|skin(1)|stomach(3)|urinary_tract(1) 23 GBM - Glioblastoma multiforme(134;0.0358) CTATTAAGGCTTCTCTCCACT 0.413 31 79 --- --- --- --- SLC12A5 57468 broad.mit.edu 37 20 44670163 44670163 + Silent SNP C C A TCGA-V1-A8WS-01A-11D-A377-08 TCGA-V1-A8WS-10A-01D-A37A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8340e524-5498-4243-b80f-416915f3604c ba0467ad-64f1-43df-81e1-529e66e6e6fe g.chr20:44670163C>A ENST00000243964.3 + 8 1148 c.1050C>A c.(1048-1050)gcC>gcA p.A350A SLC12A5_ENST00000454036.2_Silent_p.A373A NM_020708.4 NP_065759.1 Q9H2X9 S12A5_HUMAN solute carrier family 12 (potassium/chloride transporter), member 5 373 potassium ion transport|sodium ion transport integral to membrane potassium:chloride symporter activity NS(2)|breast(1)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(14)|liver(1)|lung(38)|ovary(3)|prostate(2)|skin(5)|upper_aerodigestive_tract(1) 80 Myeloproliferative disorder(115;0.0122) Bumetanide(DB00887)|Potassium Chloride(DB00761) CTGGTGCTGCCAGTGGCCTCA 0.567 20 41 --- --- --- --- ZNFX1 57169 broad.mit.edu 37 20 47887616 47887616 + Missense_Mutation SNP T T G TCGA-V1-A8WS-01A-11D-A377-08 TCGA-V1-A8WS-10A-01D-A37A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8340e524-5498-4243-b80f-416915f3604c ba0467ad-64f1-43df-81e1-529e66e6e6fe g.chr20:47887616T>G ENST00000396105.1 - 3 979 c.733A>C c.(733-735)Agc>Cgc p.S245R ZNFX1_ENST00000371752.1_Missense_Mutation_p.S245R|ZNFX1_ENST00000371754.4_Missense_Mutation_p.S245R NM_021035.2 NP_066363.1 Q9P2E3 ZNFX1_HUMAN zinc finger, NFX1-type containing 1 245 metal ion binding cervix(2)|endometrium(8)|kidney(7)|large_intestine(15)|liver(1)|lung(17)|ovary(2)|prostate(4)|skin(3)|urinary_tract(1) 60 BRCA - Breast invasive adenocarcinoma(12;0.00173)|COAD - Colon adenocarcinoma(4;0.14)|Colorectal(8;0.166) ATGATGTTGCTTATGTGCTCT 0.493 4 52 --- --- --- --- OPRL1 4987 broad.mit.edu 37 20 62730046 62730046 + Missense_Mutation SNP C C T TCGA-V1-A8WS-01A-11D-A377-08 TCGA-V1-A8WS-10A-01D-A37A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8340e524-5498-4243-b80f-416915f3604c ba0467ad-64f1-43df-81e1-529e66e6e6fe g.chr20:62730046C>T ENST00000349451.3 + 6 1419 c.1007C>T c.(1006-1008)gCa>gTa p.A336V OPRL1_ENST00000336866.2_Missense_Mutation_p.A336V|OPRL1_ENST00000355631.4_Missense_Mutation_p.A336V NM_001200019.1 NP_001186948.1 P41146 OPRX_HUMAN opiate receptor-like 1 336 elevation of cytosolic calcium ion concentration|inhibition of adenylate cyclase activity by G-protein signaling pathway|sensory perception integral to plasma membrane protein binding|X-opioid receptor activity central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(10)|ovary(1)|skin(2)|urinary_tract(1) 19 all_cancers(38;4.74e-11)|all_epithelial(29;1.33e-12)|Lung NSC(23;3.27e-09)|all_lung(23;1.02e-08) TTCTGCTGTGCATCTGCCCTG 0.637 14 30 --- --- --- --- CPT1B 1375 broad.mit.edu 37 22 51009403 51009403 + Missense_Mutation SNP T T C TCGA-V1-A8WS-01A-11D-A377-08 TCGA-V1-A8WS-10A-01D-A37A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8340e524-5498-4243-b80f-416915f3604c ba0467ad-64f1-43df-81e1-529e66e6e6fe g.chr22:51009403T>C ENST00000360719.2 - 16 2082 c.1945A>G c.(1945-1947)Acc>Gcc p.T649A CHKB-CPT1B_ENST00000453634.1_3'UTR|CPT1B_ENST00000434492.2_Missense_Mutation_p.T444A|CPT1B_ENST00000395650.2_Missense_Mutation_p.T649A|CPT1B_ENST00000457250.1_Missense_Mutation_p.T615A|CPT1B_ENST00000440709.1_Missense_Mutation_p.T568A|CPT1B_ENST00000405237.3_Missense_Mutation_p.T649A|CPT1B_ENST00000312108.7_Missense_Mutation_p.T649A NM_001145135.1|NM_152245.2 NP_001138607.1|NP_689451.1 Q92523 CPT1B_HUMAN carnitine palmitoyltransferase 1B (muscle) 649 carnitine shuttle|fatty acid beta-oxidation|regulation of fatty acid oxidation integral to membrane|mitochondrial outer membrane carnitine O-palmitoyltransferase activity central_nervous_system(1)|endometrium(2)|large_intestine(5)|lung(7)|ovary(2)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(2) 22 all_cancers(38;8.8e-15)|all_epithelial(38;1.12e-12)|all_lung(38;3.07e-05)|Breast(42;6.27e-05)|Lung NSC(38;0.000813)|Ovarian(80;0.0221)|Hepatocellular(38;0.0691)|Lung SC(80;0.113) all cancers(3;3.56e-77)|OV - Ovarian serous cystadenocarcinoma(4;5.39e-74)|Epithelial(4;5.58e-70)|GBM - Glioblastoma multiforme(4;5.59e-08)|LUAD - Lung adenocarcinoma(64;0.0016)|Lung(4;0.00942)|BRCA - Breast invasive adenocarcinoma(115;0.207) CCTGCCCCGGTCATGGCCAGG 0.547 4 156 --- --- --- --- CXorf38 159013 broad.mit.edu 37 X 40506743 40506743 + Silent SNP G G A TCGA-V1-A8WS-01A-11D-A377-08 TCGA-V1-A8WS-10A-01D-A37A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8340e524-5498-4243-b80f-416915f3604c ba0467ad-64f1-43df-81e1-529e66e6e6fe g.chrX:40506743G>A ENST00000327877.5 - 1 56 c.30C>T c.(28-30)ctC>ctT p.L10L CXorf38_ENST00000378418.2_Silent_p.L10L|CXorf38_ENST00000378421.1_5'UTR|CXorf38_ENST00000378426.1_5'UTR|CXorf38_ENST00000440784.2_Silent_p.L10L NM_144970.2 NP_659407.1 Q8TB03 CX038_HUMAN chromosome X open reading frame 38 10 NS(1)|breast(1)|endometrium(2)|kidney(2)|large_intestine(1)|lung(3)|ovary(1)|urinary_tract(1) 12 CGGCGCAGTTGAGGCGCGCCG 0.672 13 7 --- --- --- --- AJAP1 55966 broad.mit.edu 37 1 4772288 4772288 + Frame_Shift_Del DEL C C - TCGA-V1-A8WS-01A-11D-A377-08 TCGA-V1-A8WS-10A-01D-A37A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8340e524-5498-4243-b80f-416915f3604c ba0467ad-64f1-43df-81e1-529e66e6e6fe g.chr1:4772288delC ENST00000378191.4 + 2 739 c.358delC c.(358-360)cccfs p.P121fs AJAP1_ENST00000378190.3_Frame_Shift_Del_p.P121fs NM_018836.3 NP_061324.1 Q9UKB5 AJAP1_HUMAN adherens junctions associated protein 1 121 cell adhesion adherens junction|apical plasma membrane|basolateral plasma membrane|integral to membrane endometrium(4)|large_intestine(6)|lung(11)|ovary(1)|prostate(1)|urinary_tract(1) 24 all_cancers(77;0.071)|Ovarian(185;0.0721) all_cancers(23;1.77e-36)|all_epithelial(116;1.26e-21)|all_lung(118;3.51e-08)|Lung NSC(185;3.47e-06)|all_neural(13;8.84e-06)|all_hematologic(16;7.61e-05)|Breast(487;0.000507)|Renal(390;0.0007)|Colorectal(325;0.00117)|Hepatocellular(190;0.0071)|Glioma(11;0.0155)|Myeloproliferative disorder(586;0.0258)|Ovarian(437;0.0409)|Lung SC(97;0.133)|Medulloblastoma(700;0.215) Epithelial(90;3.89e-35)|OV - Ovarian serous cystadenocarcinoma(86;1.97e-19)|GBM - Glioblastoma multiforme(42;3.71e-19)|Colorectal(212;4.57e-06)|COAD - Colon adenocarcinoma(227;0.00019)|Kidney(185;0.000969)|BRCA - Breast invasive adenocarcinoma(365;0.00122)|STAD - Stomach adenocarcinoma(132;0.00578)|KIRC - Kidney renal clear cell carcinoma(229;0.0126)|READ - Rectum adenocarcinoma(331;0.0689) ACTGGCCAAGCCCCCAGCTGC 0.726 2 4 --- --- --- ---