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 ZGPAT 84619 broad.mit.edu 37 20 62365008 62365008 + Missense_Mutation SNP A A G TCGA-VM-A8C9-01A-11D-A36O-08 TCGA-VM-A8C9-10A-01D-A367-08 Untested Somatic Phase_I WXS none Illumina GAIIx 47654d66-7743-498f-b2e3-872d9100560a 8b9b4b1e-ae8d-4578-b7b6-7688526fc3fd g.chr20:62365008A>G ENST00000328969.5 + 4 915 c.788A>G c.(787-789)gAc>gGc p.D263G ZGPAT_ENST00000490623.1_3'UTR|ZGPAT_ENST00000369967.3_Missense_Mutation_p.D263G|ZGPAT_ENST00000357119.4_Missense_Mutation_p.D263G|ZGPAT_ENST00000355969.6_Missense_Mutation_p.D263G|ZGPAT_ENST00000448100.1_Missense_Mutation_p.D263G NM_032527.4 NP_115916.3 Q8N5A5 ZGPAT_HUMAN zinc finger, CCCH-type with G patch domain 263 negative regulation of epidermal growth factor receptor activity|negative regulation of transcription, DNA-dependent nucleus protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding endometrium(2)|kidney(1)|large_intestine(1)|lung(7)|ovary(2)|prostate(1) 14 all_cancers(38;1.13e-12)|all_epithelial(29;2.64e-14)|Lung NSC(23;4.79e-10)|all_lung(23;1.7e-09) GTGGAGGGGGACGGCATCCTG 0.617000 4 174 0 0 1 0 0 PARP9 83666 broad.mit.edu 37 3 122274172 122274172 + Silent SNP C C T TCGA-VM-A8C9-01A-11D-A36O-08 TCGA-VM-A8C9-10A-01D-A367-08 Untested Somatic Phase_I WXS none Illumina GAIIx 47654d66-7743-498f-b2e3-872d9100560a 8b9b4b1e-ae8d-4578-b7b6-7688526fc3fd g.chr3:122274172C>T ENST00000462315.1 - 4 1139 c.846G>A c.(844-846)ctG>ctA p.L282L PARP9_ENST00000477522.2_Silent_p.L282L|PARP9_ENST00000360356.2_Silent_p.L317L|PARP9_ENST00000471785.1_Silent_p.L282L|PARP9_ENST00000492382.1_Intron NM_001146106.1 NP_001139578.1 Q8IXQ6 PARP9_HUMAN poly (ADP-ribose) polymerase family, member 9 317 Macro 1. cell migration cytosol|nucleus NAD+ ADP-ribosyltransferase activity|protein binding endometrium(3)|kidney(2)|large_intestine(9)|liver(1)|lung(11)|ovary(1)|pancreas(1)|prostate(2)|skin(1)|urinary_tract(3) 34 GBM - Glioblastoma multiforme(114;0.0519) TCTGGAGGGTCAGGTTGTTCA 0.453000 7 65 0 0 1 0 0 SLC17A4 10050 broad.mit.edu 37 6 25776865 25776865 + Missense_Mutation SNP T T A TCGA-VM-A8C9-01A-11D-A36O-08 TCGA-VM-A8C9-10A-01D-A367-08 Untested Somatic Phase_I WXS none Illumina GAIIx 47654d66-7743-498f-b2e3-872d9100560a 8b9b4b1e-ae8d-4578-b7b6-7688526fc3fd g.chr6:25776865T>A ENST00000377905.4 + 9 1149 c.1030T>A c.(1030-1032)Tgc>Agc p.C344S SLC17A4_ENST00000397076.2_Missense_Mutation_p.C114S|SLC17A4_ENST00000439485.2_Missense_Mutation_p.C114S NM_005495.2 NP_005486.1 Q9Y2C5 S17A4_HUMAN solute carrier family 17, member 4 344 phosphate metabolic process integral to plasma membrane|membrane fraction sodium:phosphate symporter activity breast(4)|endometrium(1)|kidney(4)|large_intestine(3)|lung(21)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1) 39 TGGATGTATCTGCATTATCCT 0.507000 4 76 0 0 1 0 0 GFRAL 389400 broad.mit.edu 37 6 55216162 55216162 + Missense_Mutation SNP C C T TCGA-VM-A8C9-01A-11D-A36O-08 TCGA-VM-A8C9-10A-01D-A367-08 Untested Somatic Phase_I WXS none Illumina GAIIx 47654d66-7743-498f-b2e3-872d9100560a 8b9b4b1e-ae8d-4578-b7b6-7688526fc3fd g.chr6:55216162C>T ENST00000340465.2 + 5 568 c.482C>T c.(481-483)cCg>cTg p.P161L NM_207410.2 NP_997293.2 Q6UXV0 GFRAL_HUMAN GDNF family receptor alpha like 161 integral to membrane receptor activity NS(1)|breast(1)|endometrium(2)|kidney(5)|large_intestine(2)|liver(1)|lung(31)|ovary(1)|skin(2)|upper_aerodigestive_tract(2) 48 Lung NSC(77;0.0875)|Renal(3;0.122) LUSC - Lung squamous cell carcinoma(124;0.23) AATGGAAATCCGTGTGATCTG 0.448000 7 144 0 0 1 0 0 PIK3CA 5290 broad.mit.edu 37 3 178938891 178938891 + Missense_Mutation SNP G G T TCGA-VM-A8C9-01A-11D-A36O-08 TCGA-VM-A8C9-10A-01D-A367-08 Untested Somatic Phase_I WXS none Illumina GAIIx 47654d66-7743-498f-b2e3-872d9100560a 8b9b4b1e-ae8d-4578-b7b6-7688526fc3fd g.chr3:178938891G>T ENST00000263967.3 + 14 2290 c.2133G>T c.(2131-2133)aaG>aaT p.K711N NM_006218.2 NP_006209.2 P42336 PK3CA_HUMAN phosphatidylinositol-4,5-bisphosphate 3-kinase, catalytic subunit alpha 711 epidermal growth factor receptor signaling pathway|fibroblast growth factor receptor signaling pathway|insulin receptor signaling pathway|leukocyte migration|nerve growth factor receptor signaling pathway|phosphatidylinositol-mediated signaling|platelet activation|T cell costimulation|T cell receptor signaling pathway 1-phosphatidylinositol-3-kinase activity|ATP binding|phosphatidylinositol-4,5-bisphosphate 3-kinase activity NS(16)|autonomic_ganglia(4)|biliary_tract(22)|bone(1)|breast(2150)|central_nervous_system(110)|cervix(33)|endometrium(473)|eye(1)|haematopoietic_and_lymphoid_tissue(35)|kidney(14)|large_intestine(1202)|liver(42)|lung(202)|meninges(1)|oesophagus(28)|ovary(235)|pancreas(17)|penis(8)|pituitary(12)|prostate(10)|skin(155)|small_intestine(1)|soft_tissue(18)|stomach(121)|thyroid(80)|upper_aerodigestive_tract(70)|urinary_tract(208) 5269 all_cancers(143;1.19e-17)|Ovarian(172;0.00769)|Breast(254;0.155) OV - Ovarian serous cystadenocarcinoma(80;9.59e-28)|GBM - Glioblastoma multiforme(14;0.003)|BRCA - Breast invasive adenocarcinoma(182;0.0282) CAATGGAAAAGCTCATTAACT 0.433000 57 Mis """colorectal, gastric, gliobastoma, breast""" HNSCC(19;0.045)|TSP Lung(28;0.18) 6 25 5.9392e-07 5.9392e-07 1 1 0 RP11-417J8.6 0 broad.mit.edu 37 1 142713773 142713773 + RNA SNP C C G TCGA-VM-A8C9-01A-11D-A36O-08 TCGA-VM-A8C9-10A-01D-A367-08 Untested Somatic Phase_I WXS none Illumina GAIIx 47654d66-7743-498f-b2e3-872d9100560a 8b9b4b1e-ae8d-4578-b7b6-7688526fc3fd g.chr1:142713773C>G ENST00000369381.2 - 0 832 TCTTTTTCCACATTGTCATTT 0.284000 4 93 0 0 1 0 0 A2ML1 144568 broad.mit.edu 37 12 9001419 9001419 + Missense_Mutation SNP T T C rs150488553 by1000genomes TCGA-VM-A8C9-01A-11D-A36O-08 TCGA-VM-A8C9-10A-01D-A367-08 Untested Somatic Phase_I WXS none Illumina GAIIx 47654d66-7743-498f-b2e3-872d9100560a 8b9b4b1e-ae8d-4578-b7b6-7688526fc3fd g.chr12:9001419T>C ENST00000299698.7 + 16 2117 c.1937T>C c.(1936-1938)aTt>aCt p.I646T A2ML1_ENST00000539547.1_Missense_Mutation_p.I155T NM_144670.4 NP_653271.2 B3KVV6 B3KVV6_HUMAN alpha-2-macroglobulin-like 1 490 extracellular space endopeptidase inhibitor activity NS(2)|breast(5)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(18)|liver(2)|lung(36)|ovary(2)|skin(4)|stomach(1)|urinary_tract(1) 80 CAGCCCCTCATTGACCCAATG 0.527000 9 125 0 0 1 0 0 PCDH10 57575 broad.mit.edu 37 4 134072440 134072440 + Missense_Mutation SNP T T C TCGA-VM-A8C9-01A-11D-A36O-08 TCGA-VM-A8C9-10A-01D-A367-08 Untested Somatic Phase_I WXS none Illumina GAIIx 47654d66-7743-498f-b2e3-872d9100560a 8b9b4b1e-ae8d-4578-b7b6-7688526fc3fd g.chr4:134072440T>C ENST00000264360.4 + 1 1971 c.1145T>C c.(1144-1146)gTg>gCg p.V382A NM_032961.1 NP_116586.1 Q9P2E7 PCD10_HUMAN protocadherin 10 382 Cadherin 4. homophilic cell adhesion integral to membrane|plasma membrane calcium ion binding NS(2)|breast(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(30)|liver(1)|lung(72)|ovary(2)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(6)|urinary_tract(2) 136 LUSC - Lung squamous cell carcinoma(193;0.227) CTTTTCAGCGTGACTGACCGC 0.582000 5 85 0 0 1 0 0 TBC1D3P2 0 broad.mit.edu 37 17 60342186 60342186 + RNA SNP T T C rs79096325 TCGA-VM-A8C9-01A-11D-A36O-08 TCGA-VM-A8C9-10A-01D-A367-08 Untested Somatic Phase_I WXS none Illumina GAIIx 47654d66-7743-498f-b2e3-872d9100560a 8b9b4b1e-ae8d-4578-b7b6-7688526fc3fd g.chr17:60342186T>C ENST00000581291.1 - 0 1967 breast(2)|kidney(1)|lung(2) 5 GCTGGGGGTGTTGGGAGGGGC 0.498000 3 8 0 0 1 0 0 SORT1 6272 broad.mit.edu 37 1 109878960 109878960 + Missense_Mutation SNP T T C TCGA-VM-A8C9-01A-11D-A36O-08 TCGA-VM-A8C9-10A-01D-A367-08 Untested Somatic Phase_I WXS none Illumina GAIIx 47654d66-7743-498f-b2e3-872d9100560a 8b9b4b1e-ae8d-4578-b7b6-7688526fc3fd g.chr1:109878960T>C ENST00000256637.6 - 11 1331 c.1273A>G c.(1273-1275)Atc>Gtc p.I425V SORT1_ENST00000538502.1_Missense_Mutation_p.I288V NM_002959.5 NP_002950.3 Q99523 SORT_HUMAN sortilin 1 425 endocytosis|endosome to lysosome transport|endosome transport via multivesicular body sorting pathway|glucose import|Golgi to endosome transport|induction of apoptosis by extracellular signals|myotube differentiation|negative regulation of apoptosis|negative regulation of lipoprotein lipase activity|neuropeptide signaling pathway|ossification|plasma membrane to endosome transport|regulation of gene expression|response to insulin stimulus|vesicle organization cell surface|coated pit|early endosome|endoplasmic reticulum membrane|endosome membrane|Golgi cisterna membrane|integral to membrane|lysosomal membrane|microsome|nuclear membrane|perinuclear region of cytoplasm|plasma membrane enzyme binding|nerve growth factor binding|nerve growth factor receptor activity|neurotensin receptor activity, non-G-protein coupled NS(1)|breast(2)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(9)|lung(5)|ovary(2)|prostate(1)|skin(1) 26 all_epithelial(167;4.69e-05)|all_lung(203;0.00016)|Lung NSC(277;0.000318)|Breast(1374;0.244) Lung(183;0.0529)|Colorectal(144;0.142)|Epithelial(280;0.145)|Kidney(133;0.169)|all cancers(265;0.184) ATGGTCTGGATAGAATTATCT 0.428000 5 31 0 0 1 0 0 XPO4 64328 broad.mit.edu 37 13 21361632 21361632 + Silent SNP C C T TCGA-VM-A8C9-01A-11D-A36O-08 TCGA-VM-A8C9-10A-01D-A367-08 Untested Somatic Phase_I WXS none Illumina GAIIx 47654d66-7743-498f-b2e3-872d9100560a 8b9b4b1e-ae8d-4578-b7b6-7688526fc3fd g.chr13:21361632C>T ENST00000400602.2 - 21 3188 c.3153G>A c.(3151-3153)cgG>cgA p.R1051R XPO4_ENST00000255305.6_Silent_p.R1051R NM_022459.4 NP_071904.4 Q9C0E2 XPO4_HUMAN exportin 4 1051 protein transport cytoplasm|nucleus protein binding breast(1)|endometrium(10)|kidney(4)|large_intestine(7)|lung(14)|ovary(1)|prostate(3)|upper_aerodigestive_tract(1) 41 all_cancers(29;5.05e-24)|all_epithelial(30;5.56e-20)|all_lung(29;2.38e-16)|Lung SC(185;0.0262)|Hepatocellular(188;0.244) all cancers(112;0.000521)|Epithelial(112;0.000892)|OV - Ovarian serous cystadenocarcinoma(117;0.0148)|Lung(94;0.0189)|LUSC - Lung squamous cell carcinoma(192;0.0548) TAAGAAAGTGCCGTGTTGCTA 0.458000 3 57 0 0 1 0 0 TBC1D3P2 0 broad.mit.edu 37 17 60342197 60342197 + RNA SNP T T C rs76635225 TCGA-VM-A8C9-01A-11D-A36O-08 TCGA-VM-A8C9-10A-01D-A367-08 Untested Somatic Phase_I WXS none Illumina GAIIx 47654d66-7743-498f-b2e3-872d9100560a 8b9b4b1e-ae8d-4578-b7b6-7688526fc3fd g.chr17:60342197T>C ENST00000581291.1 - 0 1956 breast(2)|kidney(1)|lung(2) 5 TGGGAGGGGCTGGGCATGGTT 0.488000 3 15 0 0 1 0 0 NEURL2 140825 broad.mit.edu 37 20 44517457 44517457 + Silent SNP C C T TCGA-VM-A8C9-01A-11D-A36O-08 TCGA-VM-A8C9-10A-01D-A367-08 Untested Somatic Phase_I WXS none Illumina GAIIx 47654d66-7743-498f-b2e3-872d9100560a 8b9b4b1e-ae8d-4578-b7b6-7688526fc3fd g.chr20:44517457C>T ENST00000372518.4 - 2 1093 c.798G>A c.(796-798)cgG>cgA p.R266R NM_001278535.1|NM_080749.2 NP_001265464.1|NP_542787.1 Q9BR09 NEUL2_HUMAN neuralized E3 ubiquitin protein ligase 2 266 SOCS box. intracellular signal transduction large_intestine(1)|lung(2) 3 Myeloproliferative disorder(115;0.0122) CAATGGCCAGCCGGTGCACCA 0.552000 3 39 0 0 1 0 0 MLLT3 4300 broad.mit.edu 37 9 20414340 20414340 + Silent SNP G G A TCGA-VM-A8C9-01A-11D-A36O-08 TCGA-VM-A8C9-10A-01D-A367-08 Untested Somatic Phase_I WXS none Illumina GAIIx 47654d66-7743-498f-b2e3-872d9100560a 8b9b4b1e-ae8d-4578-b7b6-7688526fc3fd g.chr9:20414340G>A ENST00000380338.4 - 5 790 c.504C>T c.(502-504)agC>agT p.S168S MLLT3_ENST00000355930.6_5'UTR|MLLT3_ENST00000429426.2_Silent_p.S165S|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, 3 168 Poly-Ser. regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus protein binding p.S168S(5) 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) tgctgctgctgctactgctgc 0.537000 T MLL ALL 4 70 0 0 1 0 0 PRAMEF1 65121 broad.mit.edu 37 1 12854386 12854386 + Silent SNP C C T rs1063767 TCGA-VM-A8C9-01A-11D-A36O-08 TCGA-VM-A8C9-10A-01D-A367-08 Untested Somatic Phase_I WXS none Illumina GAIIx 47654d66-7743-498f-b2e3-872d9100560a 8b9b4b1e-ae8d-4578-b7b6-7688526fc3fd g.chr1:12854386C>T ENST00000332296.7 + 3 713 c.610C>T c.(610-612)Ctg>Ttg p.L204L NM_023013.2 NP_075389.1 O95521 PRAM1_HUMAN PRAME family member 1 204 L -> M (in dbSNP:rs1063767). cervix(1)|endometrium(2)|kidney(3)|large_intestine(6)|lung(14)|ovary(1)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(1) 35 Ovarian(185;0.249) Renal(390;0.000469)|Lung NSC(185;0.00143)|all_lung(284;0.00181)|Colorectal(325;0.00215)|Breast(348;0.0042)|Myeloproliferative disorder(586;0.0393)|Hepatocellular(190;0.0623)|Ovarian(437;0.0731) UCEC - Uterine corpus endometrioid carcinoma (279;0.00812)|Colorectal(212;4.88e-06)|Kidney(185;4.89e-05)|KIRC - Kidney renal clear cell carcinoma(229;0.000194)|COAD - Colon adenocarcinoma(227;0.000241)|BRCA - Breast invasive adenocarcinoma(304;0.000293)|STAD - Stomach adenocarcinoma(313;0.0072)|READ - Rectum adenocarcinoma(331;0.0649) AATAATATACCTGAATAGTAT 0.393000 6 539 0 0 1 0 0 RP11-417J8.6 0 broad.mit.edu 37 1 142713774 142713774 + RNA SNP A A G TCGA-VM-A8C9-01A-11D-A36O-08 TCGA-VM-A8C9-10A-01D-A367-08 Untested Somatic Phase_I WXS none Illumina GAIIx 47654d66-7743-498f-b2e3-872d9100560a 8b9b4b1e-ae8d-4578-b7b6-7688526fc3fd g.chr1:142713774A>G ENST00000369381.2 - 0 831 CTTTTTCCACATTGTCATTTT 0.284000 4 92 0 0 1 0 0 MAP7D1 55700 broad.mit.edu 37 1 36643701 36643703 + In_Frame_Del DEL AGA AGA - rs3045695 TCGA-VM-A8C9-01A-11D-A36O-08 TCGA-VM-A8C9-10A-01D-A367-08 Untested Somatic Phase_I WXS none Illumina GAIIx 47654d66-7743-498f-b2e3-872d9100560a 8b9b4b1e-ae8d-4578-b7b6-7688526fc3fd g.chr1:36643701_36643703delAGA ENST00000316156.4 + 8 1949_1951 c.1496_1498delAGA c.(1495-1500)gag>g p.EK499del MAP7D1_ENST00000373151.2_In_Frame_Del_p.EK536del|MAP7D1_ENST00000373150.4_In_Frame_Del_p.EK504del|MAP7D1_ENST00000373148.4_In_Frame_Del_p.EK82del Q3KQU3 MA7D1_HUMAN MAP7 domain containing 1 536 Pro-rich. cytoplasm|spindle breast(2)|cervix(1)|endometrium(2)|large_intestine(3)|lung(3)|ovary(3)|prostate(3)|skin(1)|urinary_tract(1) 19 Myeloproliferative disorder(586;0.0393) GCCAGTAACGAGAAGGAGTCAGC 0.719 4 5 --- --- --- --- CCT6P3 0 broad.mit.edu 37 7 64533851 64533851 + RNA DEL A A - TCGA-VM-A8C9-01A-11D-A36O-08 TCGA-VM-A8C9-10A-01D-A367-08 Untested Somatic Phase_I WXS none Illumina GAIIx 47654d66-7743-498f-b2e3-872d9100560a 8b9b4b1e-ae8d-4578-b7b6-7688526fc3fd g.chr7:64533851delA ENST00000426828.1 + 0 1261 NR_033416.1 AGCAGGCATTATGGGATAACG 0.393 2 4 --- --- --- --- ZNF598 90850 broad.mit.edu 37 16 2049882 2049883 + In_Frame_Ins INS - - TCC rs61746014 by1000genomes TCGA-VM-A8C9-01A-11D-A36O-08 TCGA-VM-A8C9-10A-01D-A367-08 Untested Somatic Phase_I WXS none Illumina GAIIx 47654d66-7743-498f-b2e3-872d9100560a 8b9b4b1e-ae8d-4578-b7b6-7688526fc3fd g.chr16:2049882_2049883insTCC ENST00000563630.1 - 9 1744_1745 c.1502_1503insGGA c.(1501-1503)ggg>gGGAgg p.501_502insR ZNF598_ENST00000562103.1_In_Frame_Ins_p.501_502insR|ZNF598_ENST00000431526.1_In_Frame_Ins_p.556_557insR Q86UK7 ZN598_HUMAN zinc finger protein 598 556 intracellular zinc ion binding p.E555_D556insE(1) NS(2)|breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|lung(7)|skin(1)|urinary_tract(1) 16 CCGGGCCGCCGTCCTCCTCCTC 0.703 4 6 --- --- --- --- CRYBB2P1 0 broad.mit.edu 37 22 25855682 25855683 + RNA INS - - GT rs72063487 by1000genomes TCGA-VM-A8C9-01A-11D-A36O-08 TCGA-VM-A8C9-10A-01D-A367-08 Untested Somatic Phase_I WXS none Illumina GAIIx 47654d66-7743-498f-b2e3-872d9100560a 8b9b4b1e-ae8d-4578-b7b6-7688526fc3fd g.chr22:25855682_25855683insGT ENST00000354451.2 + 0 366 CCTGGCAGCTGgtgtgtgtgtg 0.530 3 3 --- --- --- ---