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 BTN2A3P 54718 broad.mit.edu 37 6 26422353 26422353 + RNA SNP C C T rs141013110 TCGA-SP-A6QG-01A-12D-A35I-08 TCGA-SP-A6QG-10A-01D-A35G-08 Untested Somatic Phase_I WXS none Illumina GAIIx fc3443dd-2a18-4c31-b14e-d87edca616ff d94a0f0a-e850-4bfb-b531-1259d30edbd6 g.chr6:26422353C>T ENST00000466808.2 + 0 7 p.P3S(2) GCTCATGGAACCAGCTGCTGC 0.622000 4 89 0 0 1 0 0 ARHGAP10 79658 broad.mit.edu 37 4 148653479 148653479 + Silent SNP C C T TCGA-SP-A6QG-01A-12D-A35I-08 TCGA-SP-A6QG-10A-01D-A35G-08 Untested Somatic Phase_I WXS none Illumina GAIIx fc3443dd-2a18-4c31-b14e-d87edca616ff d94a0f0a-e850-4bfb-b531-1259d30edbd6 g.chr4:148653479C>T ENST00000336498.3 + 1 266 c.27C>T c.(25-27)agC>agT p.S9S NM_024605.3 NP_078881.3 A1A4S6 RHG10_HUMAN Rho GTPase activating protein 10 9 BAR. apoptosis|filopodium assembly|regulation of apoptosis|small GTPase mediated signal transduction cytosol|perinuclear region of cytoplasm|plasma membrane cytoskeletal adaptor activity|SH3 domain binding autonomic_ganglia(2)|endometrium(5)|kidney(2)|large_intestine(4)|liver(2)|lung(13)|ovary(1)|pancreas(1)|prostate(1)|skin(2) 33 all_hematologic(180;0.151) Renal(17;0.0166) GBM - Glioblastoma multiforme(119;0.0423) TGGAGTTCAGCGACTGCTACC 0.672000 4 41 0 0 1 0 0 ADCY9 115 broad.mit.edu 37 16 4015941 4015941 + Silent SNP C C T rs146633008 TCGA-SP-A6QG-01A-12D-A35I-08 TCGA-SP-A6QG-10A-01D-A35G-08 Untested Somatic Phase_I WXS none Illumina GAIIx fc3443dd-2a18-4c31-b14e-d87edca616ff d94a0f0a-e850-4bfb-b531-1259d30edbd6 g.chr16:4015941C>T ENST00000294016.3 - 11 4435 c.3897G>A c.(3895-3897)acG>acA p.T1299T NM_001116.3 NP_001107.2 O60503 ADCY9_HUMAN adenylate cyclase 9 1299 QHQLSISPDIRVQVDGSIGRSPTDEIANLVPSVQYVDKTSL GSDSSTQAKDAHLSPKRPWKEPVKAEERGRFGKAIEKDDCD ETGIEEANELTKLNVSKSV -> APAVHLPRHPRPGGWQHR TVSHRRDCQPGAFCPVCGQDISGF (in Ref. 1; AAC24201). 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|synaptic transmission|transmembrane transport|water transport integral to plasma membrane adenylate cyclase activity|ATP binding|metal ion binding breast(4)|central_nervous_system(1)|cervix(2)|endometrium(5)|kidney(3)|large_intestine(11)|lung(9)|ovary(5)|prostate(4)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 47 CCTTGGCCTGCGTGCTGCTGT 0.567000 3 68 0 0 1 0 0 ABCF2 10061 broad.mit.edu 37 7 150915186 150915186 + Missense_Mutation SNP A A G TCGA-SP-A6QG-01A-12D-A35I-08 TCGA-SP-A6QG-10A-01D-A35G-08 Untested Somatic Phase_I WXS none Illumina GAIIx fc3443dd-2a18-4c31-b14e-d87edca616ff d94a0f0a-e850-4bfb-b531-1259d30edbd6 g.chr7:150915186A>G ENST00000287844.2 - 11 1428 c.1319T>C c.(1318-1320)cTg>cCg p.L440P ABCF2_ENST00000222388.2_Missense_Mutation_p.L440P NM_007189.1 NP_009120.1 Q9UG63 ABCF2_HUMAN ATP-binding cassette, sub-family F (GCN20), member 2 440 ABC transporter 2. ATP-binding cassette (ABC) transporter complex|mitochondrial envelope ATP binding|ATPase activity|transporter activity breast(1)|central_nervous_system(1)|large_intestine(4)|lung(15)|ovary(1)|skin(2) 24 OV - Ovarian serous cystadenocarcinoma(82;0.00448) UCEC - Uterine corpus endometrioid carcinoma (81;0.168) TAGCAGCTTCAGAAGAGTTGA 0.517000 5 76 0 0 1 0 0 VPS13B 157680 broad.mit.edu 37 8 100479757 100479757 + Silent SNP C C T TCGA-SP-A6QG-01A-12D-A35I-08 TCGA-SP-A6QG-10A-01D-A35G-08 Untested Somatic Phase_I WXS none Illumina GAIIx fc3443dd-2a18-4c31-b14e-d87edca616ff d94a0f0a-e850-4bfb-b531-1259d30edbd6 g.chr8:100479757C>T ENST00000395996.1 + 24 3672 c.3561C>T c.(3559-3561)gtC>gtT p.V1187V VPS13B_ENST00000358544.2_Silent_p.V1187V|VPS13B_ENST00000357162.2_Silent_p.V1187V Q7Z7G8 VP13B_HUMAN vacuolar protein sorting 13 homolog B (yeast) 1187 protein transport NS(1)|autonomic_ganglia(1)|breast(6)|central_nervous_system(4)|cervix(3)|endometrium(11)|haematopoietic_and_lymphoid_tissue(4)|kidney(10)|large_intestine(37)|lung(78)|ovary(8)|pancreas(3)|prostate(5)|skin(9)|upper_aerodigestive_tract(4)|urinary_tract(9) 193 Breast(36;3.73e-07) OV - Ovarian serous cystadenocarcinoma(57;0.00636) CTCTAGCTGTCACGTCTCAAA 0.438000 31 127 0 0 1 0 0 GTPBP2 54676 broad.mit.edu 37 6 43589788 43589788 + Silent SNP G G A TCGA-SP-A6QG-01A-12D-A35I-08 TCGA-SP-A6QG-10A-01D-A35G-08 Untested Somatic Phase_I WXS none Illumina GAIIx fc3443dd-2a18-4c31-b14e-d87edca616ff d94a0f0a-e850-4bfb-b531-1259d30edbd6 g.chr6:43589788G>A ENST00000307126.5 - 11 1583 c.1584C>T c.(1582-1584)caC>caT p.H528H GTPBP2_ENST00000307114.7_Silent_p.H440H|GTPBP2_ENST00000476510.1_5'UTR NM_019096.3 NP_061969.3 Q9BX10 GTPB2_HUMAN GTP binding protein 2 528 GTP binding|GTPase activity breast(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(3)|liver(1)|lung(3)|prostate(1)|skin(2)|urinary_tract(1) 18 all_cancers(18;9.36e-06)|Lung NSC(15;0.00161)|all_lung(25;0.004) all cancers(41;0.000501)|Colorectal(64;0.00245)|COAD - Colon adenocarcinoma(64;0.00536)|STAD - Stomach adenocarcinoma(11;0.0826)|OV - Ovarian serous cystadenocarcinoma(102;0.167) CGTTGCCCACGTGTACTGTCA 0.552000 4 117 0 0 1 0 0 EP400 57634 broad.mit.edu 37 12 132547087 132547087 + Silent SNP G G A rs12366766 TCGA-SP-A6QG-01A-12D-A35I-08 TCGA-SP-A6QG-10A-01D-A35G-08 Untested Somatic Phase_I WXS none Illumina GAIIx fc3443dd-2a18-4c31-b14e-d87edca616ff d94a0f0a-e850-4bfb-b531-1259d30edbd6 g.chr12:132547087G>A ENST00000333577.4 + 48 8392 c.8283G>A c.(8281-8283)caG>caA p.Q2761Q EP400_ENST00000332482.4_Silent_p.Q2688Q|EP400_ENST00000389562.2_Silent_p.Q2724Q|EP400_ENST00000330386.6_Silent_p.Q2644Q|EP400_ENST00000389561.2_Silent_p.Q2725Q Q96L91 EP400_HUMAN E1A binding protein p400 2761 Interaction with ZNF42 (By similarity).|Poly-Gln. histone H2A acetylation|histone H4 acetylation|regulation of transcription, DNA-dependent NuA4 histone acetyltransferase complex|nuclear speck ATP binding|DNA binding|helicase activity p.Q2724Q(16)|p.Q2725Q(1) NS(1)|breast(6)|central_nervous_system(10)|cervix(1)|endometrium(21)|kidney(13)|large_intestine(25)|lung(56)|ovary(5)|prostate(8)|skin(6)|stomach(4)|upper_aerodigestive_tract(2)|urinary_tract(3) 161 all_neural(191;0.0982)|Medulloblastoma(191;0.163) all_epithelial(31;0.198) OV - Ovarian serous cystadenocarcinoma(86;3.01e-08)|Epithelial(86;3.43e-07)|all cancers(50;2.01e-06) agcagcagcagcaacaacagc 0.562000 4 52 0 0 1 0 0 NEBL 10529 broad.mit.edu 37 10 21158716 21158716 + Nonsense_Mutation SNP G G A TCGA-SP-A6QG-01A-12D-A35I-08 TCGA-SP-A6QG-10A-01D-A35G-08 Untested Somatic Phase_I WXS none Illumina GAIIx fc3443dd-2a18-4c31-b14e-d87edca616ff d94a0f0a-e850-4bfb-b531-1259d30edbd6 g.chr10:21158716G>A ENST00000377122.4 - 6 931 c.535C>T c.(535-537)Cga>Tga p.R179* NEBL_ENST00000377119.1_Nonsense_Mutation_p.R179*|NEBL_ENST00000377159.4_Intron|NEBL_ENST00000417816.2_Intron NM_006393.2 NP_006384.1 O76041 NEBL_HUMAN nebulette 179 regulation of actin filament length actin binding|structural constituent of muscle p.R179*(1) NS(2)|breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(14)|lung(22)|ovary(2)|pancreas(1)|prostate(2)|skin(8)|stomach(5)|upper_aerodigestive_tract(1)|urinary_tract(2) 70 ATGTCTGGTCGGTCAAGTTCT 0.368000 4 125 0 0 1 0 0 MLLT3 4300 broad.mit.edu 37 9 20414343 20414343 + Silent SNP A A G TCGA-SP-A6QG-01A-12D-A35I-08 TCGA-SP-A6QG-10A-01D-A35G-08 Untested Somatic Phase_I WXS none Illumina GAIIx fc3443dd-2a18-4c31-b14e-d87edca616ff d94a0f0a-e850-4bfb-b531-1259d30edbd6 g.chr9:20414343A>G ENST00000380338.4 - 5 787 c.501T>C c.(499-501)agT>agC p.S167S MLLT3_ENST00000429426.2_Silent_p.S164S|MLLT3_ENST00000355930.6_5'UTR|MLLT3_ENST00000475957.1_5'UTR NM_004529.2 NP_004520.2 P42568 AF9_HUMAN myeloid/lymphoid or mixed-lineage leukemia (trithorax homolog, Drosophila); translocated to, 3 167 Poly-Ser. regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus protein binding p.S167S(19) central_nervous_system(1)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(6)|lung(24)|ovary(1)|prostate(4)|skin(1)|urinary_tract(7) 66 GBM - Glioblastoma multiforme(3;4.35e-105)|Lung(42;3.48e-06)|LUSC - Lung squamous cell carcinoma(42;7.92e-05) tgctgctgctactgctgctgc 0.532000 T MLL ALL 5 83 0 0 1 0 0 PCDHGA4 56111 broad.mit.edu 37 5 140737040 140737040 + Missense_Mutation SNP C C T TCGA-SP-A6QG-01A-12D-A35I-08 TCGA-SP-A6QG-10A-01D-A35G-08 Untested Somatic Phase_I WXS none Illumina GAIIx fc3443dd-2a18-4c31-b14e-d87edca616ff d94a0f0a-e850-4bfb-b531-1259d30edbd6 g.chr5:140737040C>T ENST00000571252.1 + 1 2273 c.2273C>T c.(2272-2274)tCc>tTc p.S758F PCDHGB1_ENST00000523390.1_Intron|PCDHGA2_ENST00000394576.2_Intron|PCDHGA3_ENST00000253812.6_Intron|PCDHGA1_ENST00000517417.1_Intron NM_018917.2 NP_061740.1 endometrium(1)|kidney(1)|lung(3) 5 KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191) CACGAGGTCTCCCTCACCGCG 0.602000 14 135 0 0 1 0 0 MICU3 286097 broad.mit.edu 37 8 16962937 16962937 + Silent SNP C C G TCGA-SP-A6QG-01A-12D-A35I-08 TCGA-SP-A6QG-10A-01D-A35G-08 Untested Somatic Phase_I WXS none Illumina GAIIx fc3443dd-2a18-4c31-b14e-d87edca616ff d94a0f0a-e850-4bfb-b531-1259d30edbd6 g.chr8:16962937C>G ENST00000318063.5 + 11 1143 c.1101C>G c.(1099-1101)ctC>ctG p.L367L MICU3_ENST00000519866.1_3'UTR NM_181723.2 NP_859074.1 mitochondrial calcium uptake family, member 3 TGGATAATCTCCAAACAGAAG 0.313000 8 58 0 0 1 0 0 ZEB2 9839 broad.mit.edu 37 2 145147119 145147119 + Nonsense_Mutation SNP C C A TCGA-SP-A6QG-01A-12D-A35I-08 TCGA-SP-A6QG-10A-01D-A35G-08 Untested Somatic Phase_I WXS none Illumina GAIIx fc3443dd-2a18-4c31-b14e-d87edca616ff d94a0f0a-e850-4bfb-b531-1259d30edbd6 g.chr2:145147119C>A ENST00000558170.2 - 10 4728 c.3544G>T c.(3544-3546)Gaa>Taa p.E1182* ZEB2_ENST00000409487.3_Nonsense_Mutation_p.E1182*|ZEB2_ENST00000303660.4_Nonsense_Mutation_p.E1182*|ZEB2_ENST00000539609.3_Nonsense_Mutation_p.E1158* NM_014795.3 NP_055610.1 O60315 ZEB2_HUMAN zinc finger E-box binding homeobox 2 1182 Glu-rich (acidic). cytoplasm|nucleolus phosphatase regulator activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|SMAD binding|zinc ion binding breast(3)|central_nervous_system(1)|cervix(2)|endometrium(7)|kidney(6)|large_intestine(23)|lung(45)|ovary(5)|pancreas(2)|prostate(6)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(3) 107 BRCA - Breast invasive adenocarcinoma(221;0.112) GTCTCTTCTTCATCTCGTATC 0.478000 4 109 1.23904e-05 1.23904e-05 1 1 0 CDC27 996 broad.mit.edu 37 17 45234323 45234323 + Silent SNP T T C TCGA-SP-A6QG-01A-12D-A35I-08 TCGA-SP-A6QG-10A-01D-A35G-08 Untested Somatic Phase_I WXS none Illumina GAIIx fc3443dd-2a18-4c31-b14e-d87edca616ff d94a0f0a-e850-4bfb-b531-1259d30edbd6 g.chr17:45234323T>C ENST00000066544.3 - 7 891 c.798A>G c.(796-798)cgA>cgG p.R266R CDC27_ENST00000446365.2_Silent_p.R205R|CDC27_ENST00000531206.1_Silent_p.R266R|CDC27_ENST00000527547.1_Silent_p.R266R NM_001114091.1|NM_001256.3 NP_001107563.1|NP_001247.3 P30260 CDC27_HUMAN cell division cycle 27 266 anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|cell proliferation|mitotic cell cycle spindle assembly checkpoint|mitotic metaphase/anaphase transition|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|protein K11-linked ubiquitination anaphase-promoting complex|centrosome|cytosol|nucleoplasm|spindle microtubule protein phosphatase binding NS(1)|breast(5)|central_nervous_system(3)|cervix(1)|endometrium(2)|kidney(17)|large_intestine(18)|lung(11)|ovary(5)|pancreas(1)|prostate(19)|skin(5)|upper_aerodigestive_tract(2) 90 CTAATAAACTTCGACCAGTTT 0.358000 8 73 0 0 1 0 0 STAC3 246329 broad.mit.edu 37 12 57643383 57643383 + Missense_Mutation SNP A A G TCGA-SP-A6QG-01A-12D-A35I-08 TCGA-SP-A6QG-10A-01D-A35G-08 Untested Somatic Phase_I WXS none Illumina GAIIx fc3443dd-2a18-4c31-b14e-d87edca616ff d94a0f0a-e850-4bfb-b531-1259d30edbd6 g.chr12:57643383A>G ENST00000332782.2 - 2 238 c.37T>C c.(37-39)Tcc>Ccc p.S13P STAC3_ENST00000554578.1_Intron|STAC3_ENST00000546246.2_Intron NM_145064.1 NP_659501.1 Q96MF2 STAC3_HUMAN SH3 and cysteine rich domain 3 13 intracellular signal transduction identical protein binding|metal ion binding breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(10)|ovary(2)|skin(1) 18 GCTGGGAAGGAGGGCTTAGGG 0.537000 4 50 0 0 1 0 0 TRMT2B 79979 broad.mit.edu 37 X 100297190 100297190 + Missense_Mutation SNP G G A TCGA-SP-A6QG-01A-12D-A35I-08 TCGA-SP-A6QG-10A-01D-A35G-08 Untested Somatic Phase_I WXS none Illumina GAIIx fc3443dd-2a18-4c31-b14e-d87edca616ff d94a0f0a-e850-4bfb-b531-1259d30edbd6 g.chrX:100297190G>A ENST00000338687.7 - 3 894 c.89C>T c.(88-90)cCc>cTc p.P30L TRMT2B_ENST00000545398.1_Missense_Mutation_p.P30L|TRMT2B_ENST00000478422.1_Intron|TRMT2B_ENST00000372935.1_Missense_Mutation_p.P30L|TRMT2B_ENST00000372936.3_Missense_Mutation_p.P30L|TRMT2B_ENST00000372931.5_Missense_Mutation_p.P30L|TRMT2B_ENST00000372939.1_Missense_Mutation_p.P30L Q96GJ1 TRM2_HUMAN tRNA methyltransferase 2 homolog B (S. cerevisiae) 30 tRNA (uracil-5-)-methyltransferase activity breast(3)|endometrium(2)|kidney(2)|large_intestine(3)|lung(10)|ovary(1)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1) 24 GGCATACCAGGGAAGCAGTCC 0.502000 18 44 0 0 1 0 0 HOXB3 3213 broad.mit.edu 37 17 46629486 46629486 + Silent SNP G G A TCGA-SP-A6QG-01A-12D-A35I-08 TCGA-SP-A6QG-10A-01D-A35G-08 Untested Somatic Phase_I WXS none Illumina GAIIx fc3443dd-2a18-4c31-b14e-d87edca616ff d94a0f0a-e850-4bfb-b531-1259d30edbd6 g.chr17:46629486G>A ENST00000470495.1 - 1 1798 c.351C>T c.(349-351)tgC>tgT p.C117C HOXB3_ENST00000485909.2_Intron|HOXB-AS3_ENST00000465846.2_RNA|HOXB3_ENST00000311626.4_Silent_p.C117C|HOXB3_ENST00000498678.1_Silent_p.C117C|HOXB3_ENST00000476342.1_Silent_p.C117C|HOXB3_ENST00000472863.1_Silent_p.C44C|HOXB3_ENST00000490677.1_Intron|HOXB3_ENST00000460160.1_Intron|HOXB3_ENST00000489475.1_Silent_p.C44C P14651 HXB3_HUMAN homeobox B3 117 angiogenesis nucleus sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity breast(1)|endometrium(4)|kidney(2)|large_intestine(2)|lung(16)|prostate(4)|upper_aerodigestive_tract(1) 30 TGCCGGGACCGCACTTTGGGG 0.617000 6 298 0 0 1 0 0 UBN1 29855 broad.mit.edu 37 16 4910691 4910693 + In_Frame_Del DEL AGA AGA - TCGA-SP-A6QG-01A-12D-A35I-08 TCGA-SP-A6QG-10A-01D-A35G-08 Untested Somatic Phase_I WXS none Illumina GAIIx fc3443dd-2a18-4c31-b14e-d87edca616ff d94a0f0a-e850-4bfb-b531-1259d30edbd6 g.chr16:4910691_4910693delAGA ENST00000396658.4 + 6 1401_1403 c.698_700delAGA c.(697-702)gag>g p.EK233del UBN1_ENST00000262376.6_In_Frame_Del_p.EK233del|UBN1_ENST00000590769.1_In_Frame_Del_p.EK233del|UBN1_ENST00000545171.1_In_Frame_Del_p.EK233del NM_016936.3 NP_058632.2 Q9NPG3 UBN1_HUMAN ubinuclein 1 233 Lys-rich. chromatin modification|interspecies interaction between organisms|regulation of transcription from RNA polymerase II promoter PML body|tight junction DNA binding|sequence-specific DNA binding transcription factor activity p.K234E(1) NS(1)|endometrium(6)|kidney(4)|large_intestine(10)|lung(12)|prostate(1)|skin(3)|upper_aerodigestive_tract(1) 38 GCCAGTAAGGAGAAGAAGAAGAA 0.453 9 215 --- --- --- --- NPIPA8 101059953 broad.mit.edu 37 16 18441114 18441116 + Splice_Site DEL CAC CAC - TCGA-SP-A6QG-01A-12D-A35I-08 TCGA-SP-A6QG-10A-01D-A35G-08 Untested Somatic Phase_I WXS none Illumina GAIIx fc3443dd-2a18-4c31-b14e-d87edca616ff d94a0f0a-e850-4bfb-b531-1259d30edbd6 g.chr16:18441114_18441116delCAC ENST00000339303.5 - 1 15 c.e1+1 nuclear pore complex interacting protein family, member A8 CGGCCATACTCACCACTGGGACT 0.709 5 11 --- --- --- --- LINC00482 284185 broad.mit.edu 37 17 79279019 79279020 + RNA INS - - C rs3215153 by1000genomes TCGA-SP-A6QG-01A-12D-A35I-08 TCGA-SP-A6QG-10A-01D-A35G-08 Untested Somatic Phase_I WXS none Illumina GAIIx fc3443dd-2a18-4c31-b14e-d87edca616ff d94a0f0a-e850-4bfb-b531-1259d30edbd6 g.chr17:79279019_79279020insC ENST00000332012.5 - 0 573_574 NR_038080.1 CCCAGGCACAGCCCCTGAGGCA 0.673 5 9 --- --- --- --- SRPX 8406 broad.mit.edu 37 X 38079976 38079978 + In_Frame_Del DEL GCA GCA - rs72445954 TCGA-SP-A6QG-01A-12D-A35I-08 TCGA-SP-A6QG-10A-01D-A35G-08 Untested Somatic Phase_I WXS none Illumina GAIIx fc3443dd-2a18-4c31-b14e-d87edca616ff d94a0f0a-e850-4bfb-b531-1259d30edbd6 g.chrX:38079976_38079978delGCA ENST00000378533.3 - 1 174_176 c.68_70delTGC c.(67-72)cgc>c p.LR23del SRPX_ENST00000544439.1_In_Frame_Del_p.LR23del|TM4SF2_ENST00000465127.1_Intron|SRPX_ENST00000432886.2_In_Frame_Del_p.LR23del|SRPX_ENST00000538295.1_In_Frame_Del_p.LR23del|SRPX_ENST00000343800.6_Intron NM_006307.4 NP_006298.1 P78539 SRPX_HUMAN sushi-repeat containing protein, X-linked 23 Missing. cell adhesion cell surface|membrane p.L23delL(2) autonomic_ganglia(1)|breast(2)|endometrium(5)|large_intestine(5)|lung(10)|prostate(2) 25 GGCGGGACGCgcagcagcagcag 0.729 OREG0019726 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 4 8 --- --- --- --- FAM120C 54954 broad.mit.edu 37 X 54209302 54209303 + In_Frame_Ins INS - - GGCGGC TCGA-SP-A6QG-01A-12D-A35I-08 TCGA-SP-A6QG-10A-01D-A35G-08 Untested Somatic Phase_I WXS none Illumina GAIIx fc3443dd-2a18-4c31-b14e-d87edca616ff d94a0f0a-e850-4bfb-b531-1259d30edbd6 g.chrX:54209302_54209303insGGCGGC ENST00000375180.2 - 1 385_386 c.329_330insGCCGCC c.(328-330)ccc>cGCCGCCcc p.109_110insRR FAM120C_ENST00000477084.1_In_Frame_Ins_p.109_110insRR|FAM120C_ENST00000328235.4_In_Frame_Ins_p.109_110insRR NM_017848.4 NP_060318.3 Q9NX05 F120C_HUMAN family with sequence similarity 120C 109 breast(3)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(5)|lung(9)|ovary(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 28 GCAGCTGAGGGGGCGGCGGCGG 0.748 3 5 --- --- --- ---