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 LHX8 431707 broad.mit.edu 37 1 75609601 75609601 + Missense_Mutation SNP G G T TCGA-HC-8266-01A-11D-2260-08 TCGA-HC-8266-10A-01D-2260-08 Untested Somatic Phase_I WXS none Illumina GAIIx 79d05b35-8616-4147-af78-8bf33fa45499 ef3312fd-0ef1-4d54-9cea-4bf59a6ebf85 g.chr1:75609601G>T ENST00000294638.5 + 7 1346 c.682G>T c.(682-684)Gct>Tct p.A228S LHX8_ENST00000356261.3_Missense_Mutation_p.A218S NM_001001933.1 NP_001001933.1 Q68G74 LHX8_HUMAN LIM homeobox 8 228 nucleus sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding NS(1)|breast(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(18)|ovary(3)|urinary_tract(1) 30 AGCAAAAAGAGCTCGGACCAG 0.398 7 37 --- --- --- --- GATAD2B 57459 broad.mit.edu 37 1 153788813 153788813 + Silent SNP G G C TCGA-HC-8266-01A-11D-2260-08 TCGA-HC-8266-10A-01D-2260-08 Untested Somatic Phase_I WXS none Illumina GAIIx 79d05b35-8616-4147-af78-8bf33fa45499 ef3312fd-0ef1-4d54-9cea-4bf59a6ebf85 g.chr1:153788813G>C ENST00000368655.4 - 7 1395 c.1152C>G c.(1150-1152)gcC>gcG p.A384A NM_020699.2 NP_065750.1 Q8WXI9 P66B_HUMAN GATA zinc finger domain containing 2B 384 CR2. nucleus protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding breast(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(5)|lung(12)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(3) 38 all_lung(78;1.34e-32)|Lung NSC(65;1.04e-30)|Hepatocellular(266;0.0877)|Melanoma(130;0.199) LUSC - Lung squamous cell carcinoma(543;0.151) ACTCGCTATTGGCTGCACTAG 0.463 7 83 --- --- --- --- BAZ2B 29994 broad.mit.edu 37 2 160289578 160289578 + Silent SNP A A G TCGA-HC-8266-01A-11D-2260-08 TCGA-HC-8266-10A-01D-2260-08 Untested Somatic Phase_I WXS none Illumina GAIIx 79d05b35-8616-4147-af78-8bf33fa45499 ef3312fd-0ef1-4d54-9cea-4bf59a6ebf85 g.chr2:160289578A>G ENST00000392783.2 - 9 2085 c.1590T>C c.(1588-1590)ccT>ccC p.P530P BAZ2B_ENST00000392782.1_Silent_p.P528P|BAZ2B_ENST00000355831.2_Silent_p.P530P|BAZ2B_ENST00000343439.5_Silent_p.P528P NM_013450.2 NP_038478.2 Q9UIF8 BAZ2B_HUMAN bromodomain adjacent to zinc finger domain, 2B 530 P -> L (in dbSNP:rs3732287). regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|protein binding|zinc ion binding NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(11)|large_intestine(7)|liver(2)|lung(41)|ovary(3)|prostate(1)|skin(2)|soft_tissue(1)|urinary_tract(1) 82 GTGAGGAAAAAGGGGTGCTAC 0.443 3 111 --- --- --- --- SLC11A1 6556 broad.mit.edu 37 2 219249918 219249918 + Silent SNP C C A TCGA-HC-8266-01A-11D-2260-08 TCGA-HC-8266-10A-01D-2260-08 Untested Somatic Phase_I WXS none Illumina GAIIx 79d05b35-8616-4147-af78-8bf33fa45499 ef3312fd-0ef1-4d54-9cea-4bf59a6ebf85 g.chr2:219249918C>A ENST00000233202.6 + 4 662 c.322C>A c.(322-324)Cga>Aga p.R108R SLC11A1_ENST00000473367.1_3'UTR|SLC11A1_ENST00000539932.1_5'UTR NM_000578.3 NP_000569.3 P49279 NRAM1_HUMAN solute carrier family 11 (proton-coupled divalent metal ion transporter), member 1 108 activation of protein kinase activity|antigen processing and presentation of peptide antigen|cadmium ion transmembrane transport|cellular cadmium ion homeostasis|cellular iron ion homeostasis|defense response to Gram-negative bacterium|defense response to protozoan|divalent metal ion export|inflammatory response|interleukin-2 production|interleukin-3 production|iron ion transport|L-arginine import|macrophage activation|MHC class II biosynthetic process|mRNA stabilization|multicellular organismal iron ion homeostasis|negative regulation of cytokine production|nitrite transport|phagocytosis|positive regulation of dendritic cell antigen processing and presentation|positive regulation of interferon-gamma production|positive regulation of phagocytosis|positive regulation of T-helper 1 type immune response|positive regulation of transcription from RNA polymerase II promoter|respiratory burst|response to interferon-gamma|response to lipopolysaccharide|T cell cytokine production|T cell proliferation involved in immune response|vacuolar acidification|wound healing integral to plasma membrane|late endosome membrane|lysosome|phagocytic vesicle membrane|tertiary granule membrane manganese ion transmembrane transporter activity|metal ion:hydrogen antiporter activity|protein homodimerization activity NS(1)|breast(2)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(3)|ovary(3)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1) 19 Renal(207;0.0474) Epithelial(149;1.16e-06)|all cancers(144;0.000195)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942) GCTCTGCCAGCGACTGGCTGC 0.632 3 126 --- --- --- --- SLC30A9 10463 broad.mit.edu 37 4 42072553 42072553 + Silent SNP G G A TCGA-HC-8266-01A-11D-2260-08 TCGA-HC-8266-10A-01D-2260-08 Untested Somatic Phase_I WXS none Illumina GAIIx 79d05b35-8616-4147-af78-8bf33fa45499 ef3312fd-0ef1-4d54-9cea-4bf59a6ebf85 g.chr4:42072553G>A ENST00000264451.7 + 15 1443 c.1263G>A c.(1261-1263)ctG>ctA p.L421L NM_006345.3 NP_006336.3 Q6PML9 ZNT9_HUMAN solute carrier family 30 (zinc transporter), member 9 nucleotide-excision repair|zinc ion transport cytoskeleton|integral to membrane|nucleus cation transmembrane transporter activity|nucleotide binding|sequence-specific DNA binding transcription factor activity central_nervous_system(2)|endometrium(4)|kidney(2)|large_intestine(8)|lung(6)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 25 GCAATCCACTGTATGACAGCC 0.398 23 110 --- --- --- --- PCDHB2 56133 broad.mit.edu 37 5 140476458 140476458 + Missense_Mutation SNP C C T TCGA-HC-8266-01A-11D-2260-08 TCGA-HC-8266-10A-01D-2260-08 Untested Somatic Phase_I WXS none Illumina GAIIx 79d05b35-8616-4147-af78-8bf33fa45499 ef3312fd-0ef1-4d54-9cea-4bf59a6ebf85 g.chr5:140476458C>T ENST00000194155.4 + 1 2232 c.2084C>T c.(2083-2085)gCg>gTg p.A695V NM_018936.2 NP_061759.1 Q9Y5E7 PCDB2_HUMAN 695 calcium-dependent cell-cell adhesion|homophilic cell adhesion|synapse assembly|synaptic transmission integral to plasma membrane calcium ion binding NS(1)|breast(1)|endometrium(3)|kidney(1)|large_intestine(22)|lung(24)|ovary(3)|pancreas(1)|prostate(3)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(2) 71 KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339) CTGGTGGTGGCGTTGGCCTCG 0.697 21 212 --- --- --- --- RNF217-AS1 7955 broad.mit.edu 37 6 125233353 125233353 + RNA SNP T T A TCGA-HC-8266-01A-11D-2260-08 TCGA-HC-8266-10A-01D-2260-08 Untested Somatic Phase_I WXS none Illumina GAIIx 79d05b35-8616-4147-af78-8bf33fa45499 ef3312fd-0ef1-4d54-9cea-4bf59a6ebf85 g.chr6:125233353T>A ENST00000439075.1 - 0 1392 NR_026876.1 TGCCAGACACTCTATATTTGC 0.363 8 32 --- --- --- --- ELMO1 9844 broad.mit.edu 37 7 37382282 37382282 + Missense_Mutation SNP C C T rs146510671 TCGA-HC-8266-01A-11D-2260-08 TCGA-HC-8266-10A-01D-2260-08 Untested Somatic Phase_I WXS none Illumina GAIIx 79d05b35-8616-4147-af78-8bf33fa45499 ef3312fd-0ef1-4d54-9cea-4bf59a6ebf85 g.chr7:37382282C>T ENST00000310758.4 - 2 660 c.13G>A c.(13-15)Gcg>Acg p.A5T ELMO1_ENST00000448602.1_Missense_Mutation_p.A5T|ELMO1_ENST00000442504.1_Missense_Mutation_p.A5T NM_001206480.1|NM_014800.10 NP_001193409.1|NP_055615.8 Q92556 ELMO1_HUMAN engulfment and cell motility 1 5 actin cytoskeleton organization|apoptosis|cellular component movement|phagocytosis, engulfment|Rac protein signal transduction|regulation of defense response to virus by virus|viral reproduction cytoskeleton|cytosol|plasma membrane SH3 domain binding p.A5T(1) breast(2)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(11)|liver(2)|lung(28)|ovary(3)|prostate(2)|skin(3)|upper_aerodigestive_tract(1) 58 ACGATGTCCGCGGGTGGCGGC 0.502 4 148 --- --- --- --- ZNF395 55893 broad.mit.edu 37 8 28206326 28206326 + Silent SNP C C T TCGA-HC-8266-01A-11D-2260-08 TCGA-HC-8266-10A-01D-2260-08 Untested Somatic Phase_I WXS none Illumina GAIIx 79d05b35-8616-4147-af78-8bf33fa45499 ef3312fd-0ef1-4d54-9cea-4bf59a6ebf85 g.chr8:28206326C>T ENST00000344423.5 - 10 1583 c.1452G>A c.(1450-1452)aaG>aaA p.K484K ZNF395_ENST00000523095.1_Silent_p.K484K|ZNF395_ENST00000523202.1_Silent_p.K484K NM_018660.2 NP_061130.1 Q9H8N7 ZN395_HUMAN zinc finger protein 395 484 transcription, DNA-dependent cytoplasm|nucleus DNA binding|zinc ion binding cervix(1)|endometrium(1)|kidney(5)|large_intestine(6)|lung(8)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 24 Ovarian(32;2.06e-05) KIRC - Kidney renal clear cell carcinoma(542;0.102)|Kidney(114;0.123)|Colorectal(74;0.142) TGCGGCACTTCTTAGCCTCCC 0.627 6 74 --- --- --- --- CDC14B 8555 broad.mit.edu 37 9 99296346 99296346 + Missense_Mutation SNP G G C TCGA-HC-8266-01A-11D-2260-08 TCGA-HC-8266-10A-01D-2260-08 Untested Somatic Phase_I WXS none Illumina GAIIx 79d05b35-8616-4147-af78-8bf33fa45499 ef3312fd-0ef1-4d54-9cea-4bf59a6ebf85 g.chr9:99296346G>C ENST00000375241.1 - 9 1260 c.809C>G c.(808-810)gCc>gGc p.A270G CDC14B_ENST00000375236.1_Missense_Mutation_p.A270G|CDC14B_ENST00000265659.2_Missense_Mutation_p.A270G|CDC14B_ENST00000375242.3_Missense_Mutation_p.A233G|CDC14B_ENST00000463569.1_Missense_Mutation_p.A270G|CDC14B_ENST00000375240.3_Missense_Mutation_p.A270G NM_003671.3|NM_033331.2 NP_003662.1|NP_201588.1 O60729 CC14B_HUMAN cell division cycle 14B 270 B. activation of anaphase-promoting complex activity|DNA repair|G2/M transition DNA damage checkpoint nucleolus|nucleoplasm protein binding|protein serine/threonine phosphatase activity|protein tyrosine phosphatase activity|protein tyrosine/serine/threonine phosphatase activity endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(5)|lung(5)|ovary(1)|prostate(1) 15 Acute lymphoblastic leukemia(62;0.0559) AAAGCGTTTGGCATCATACAT 0.388 5 35 --- --- --- --- PTPN3 5774 broad.mit.edu 37 9 112185091 112185091 + Missense_Mutation SNP A A C TCGA-HC-8266-01A-11D-2260-08 TCGA-HC-8266-10A-01D-2260-08 Untested Somatic Phase_I WXS none Illumina GAIIx 79d05b35-8616-4147-af78-8bf33fa45499 ef3312fd-0ef1-4d54-9cea-4bf59a6ebf85 g.chr9:112185091A>C ENST00000412145.1 - 8 3203 c.650T>G c.(649-651)aTg>aGg p.M217R PTPN3_ENST00000446349.1_Intron|PTPN3_ENST00000374541.2_Missense_Mutation_p.M348R|PTPN3_ENST00000262539.3_Intron NM_001145369.1|NM_001145371.1 NP_001138841.1|NP_001138843.1 P26045 PTN3_HUMAN protein tyrosine phosphatase, non-receptor type 3 348 FERM. negative regulation of membrane protein ectodomain proteolysis|negative regulation of mitotic cell cycle cytoplasm|cytoskeleton|internal side of plasma membrane ATPase binding|cytoskeletal protein binding|phosphotyrosine binding|protein tyrosine phosphatase activity breast(1)|endometrium(2)|kidney(2)|large_intestine(8)|liver(1)|lung(14)|ovary(4)|prostate(3)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1) 41 GTTCCACACCATCCCGCCAAT 0.463 26 194 --- --- --- --- C9orf96 169436 broad.mit.edu 37 9 136260870 136260870 + Silent SNP C C G TCGA-HC-8266-01A-11D-2260-08 TCGA-HC-8266-10A-01D-2260-08 Untested Somatic Phase_I WXS none Illumina GAIIx 79d05b35-8616-4147-af78-8bf33fa45499 ef3312fd-0ef1-4d54-9cea-4bf59a6ebf85 g.chr9:136260870C>G ENST00000371957.3 + 9 953 c.846C>G c.(844-846)ccC>ccG p.P282P C9orf96_ENST00000371955.1_5'UTR NM_153710.3 NP_714921.4 Q8NE28 SGK71_HUMAN chromosome 9 open reading frame 96 282 Protein kinase. ATP binding|protein kinase activity autonomic_ganglia(1)|central_nervous_system(3)|endometrium(1)|kidney(1)|large_intestine(5)|lung(10)|ovary(2)|stomach(2) 25 OV - Ovarian serous cystadenocarcinoma(145;1.06e-07)|Epithelial(140;1.28e-06)|all cancers(34;1.46e-05) AGATCGACCCCTCGGATCGAA 0.493 21 51 --- --- --- --- GPR158 57512 broad.mit.edu 37 10 25888046 25888046 + Missense_Mutation SNP C C T TCGA-HC-8266-01A-11D-2260-08 TCGA-HC-8266-10A-01D-2260-08 Untested Somatic Phase_I WXS none Illumina GAIIx 79d05b35-8616-4147-af78-8bf33fa45499 ef3312fd-0ef1-4d54-9cea-4bf59a6ebf85 g.chr10:25888046C>T ENST00000376351.3 + 11 3850 c.3491C>T c.(3490-3492)cCt>cTt p.P1164L GPR158_ENST00000490549.1_3'UTR NM_020752.2 NP_065803.2 Q5T848 GP158_HUMAN G protein-coupled receptor 158 1164 integral to membrane|plasma membrane G-protein coupled receptor activity breast(5)|cervix(1)|endometrium(9)|kidney(10)|large_intestine(20)|lung(56)|ovary(4)|pancreas(1)|prostate(3)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3) 119 TTCCAGCAACCTTTAACATCA 0.433 5 41 --- --- --- --- MYO3A 53904 broad.mit.edu 37 10 26462763 26462763 + Silent SNP A A G TCGA-HC-8266-01A-11D-2260-08 TCGA-HC-8266-10A-01D-2260-08 Untested Somatic Phase_I WXS none Illumina GAIIx 79d05b35-8616-4147-af78-8bf33fa45499 ef3312fd-0ef1-4d54-9cea-4bf59a6ebf85 g.chr10:26462763A>G ENST00000265944.5 + 30 3736 c.3570A>G c.(3568-3570)aaA>aaG p.K1190K MYO3A_ENST00000543632.1_Intron NM_017433.4 NP_059129.3 Q8NEV4 MYO3A_HUMAN myosin IIIA 1190 protein autophosphorylation|response to stimulus|sensory perception of sound|visual perception cytoplasm|filamentous actin|filopodium|myosin complex actin binding|actin-dependent ATPase activity|ADP binding|ATP binding|calmodulin binding|plus-end directed microfilament motor activity|protein serine/threonine kinase activity NS(2)|breast(9)|central_nervous_system(3)|endometrium(9)|kidney(10)|large_intestine(28)|liver(1)|lung(46)|ovary(11)|pancreas(1)|prostate(6)|skin(11)|stomach(6)|upper_aerodigestive_tract(1)|urinary_tract(2) 146 AGACTCCAAAAAAAATGAATA 0.408 8 39 --- --- --- --- PDE3B 5140 broad.mit.edu 37 11 14808089 14808089 + Missense_Mutation SNP C C T TCGA-HC-8266-01A-11D-2260-08 TCGA-HC-8266-10A-01D-2260-08 Untested Somatic Phase_I WXS none Illumina GAIIx 79d05b35-8616-4147-af78-8bf33fa45499 ef3312fd-0ef1-4d54-9cea-4bf59a6ebf85 g.chr11:14808089C>T ENST00000282096.4 + 3 1489 c.1136C>T c.(1135-1137)tCt>tTt p.S379F PDE3B_ENST00000455098.2_Intron NM_000922.3 NP_000913.2 Q13370 PDE3B_HUMAN phosphodiesterase 3B, cGMP-inhibited 379 cAMP catabolic process|insulin receptor signaling pathway|negative regulation of lipid catabolic process|platelet activation cytosol|endoplasmic reticulum|Golgi apparatus|guanyl-nucleotide exchange factor complex|integral to membrane|microsome 3',5'-cyclic-AMP phosphodiesterase activity|3',5'-cyclic-GMP phosphodiesterase activity|cGMP-inhibited cyclic-nucleotide phosphodiesterase activity|metal ion binding|protein kinase B binding NS(1)|breast(1)|endometrium(5)|kidney(3)|large_intestine(6)|lung(15)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 39 GTCATTTCCTCTCTACGGAGT 0.448 25 117 --- --- --- --- MAP3K11 4296 broad.mit.edu 37 11 65375265 65375265 + Silent SNP G G A TCGA-HC-8266-01A-11D-2260-08 TCGA-HC-8266-10A-01D-2260-08 Untested Somatic Phase_I WXS none Illumina GAIIx 79d05b35-8616-4147-af78-8bf33fa45499 ef3312fd-0ef1-4d54-9cea-4bf59a6ebf85 g.chr11:65375265G>A ENST00000309100.3 - 4 1577 c.1092C>T c.(1090-1092)caC>caT p.H364H MAP3K11_ENST00000530153.1_Silent_p.H107H NM_002419.3 NP_002410.1 Q16584 M3K11_HUMAN mitogen-activated protein kinase kinase kinase 11 364 Protein kinase. activation of JUN kinase activity|cell proliferation|G1 phase of mitotic cell cycle|microtubule-based process|positive regulation of JNK cascade|protein autophosphorylation centrosome|microtubule ATP binding|JUN kinase kinase kinase activity|mitogen-activated protein kinase kinase kinase binding|protein homodimerization activity breast(3)|central_nervous_system(1)|kidney(1)|large_intestine(4)|lung(14)|skin(1) 24 CGGGCCTGCGGTGGGGGTCCT 0.652 9 49 --- --- --- --- PICALM 8301 broad.mit.edu 37 11 85725995 85725995 + Missense_Mutation SNP A A G TCGA-HC-8266-01A-11D-2260-08 TCGA-HC-8266-10A-01D-2260-08 Untested Somatic Phase_I WXS none Illumina GAIIx 79d05b35-8616-4147-af78-8bf33fa45499 ef3312fd-0ef1-4d54-9cea-4bf59a6ebf85 g.chr11:85725995A>G ENST00000526033.1 - 5 780 c.464T>C c.(463-465)gTt>gCt p.V155A PICALM_ENST00000393346.3_Missense_Mutation_p.V155A|PICALM_ENST00000532317.1_Missense_Mutation_p.V155A|PICALM_ENST00000356360.5_Missense_Mutation_p.V155A|PICALM_ENST00000528398.1_Missense_Mutation_p.V104A NM_001206946.1|NM_007166.3 NP_001193875.1|NP_009097.2 Q13492 PICAL_HUMAN phosphatidylinositol binding clathrin assembly protein 155 clathrin coat assembly|endosome transport|negative regulation of receptor-mediated endocytosis|positive regulation of transcription, DNA-dependent|receptor internalization|regulation of protein localization clathrin coat|clathrin-coated vesicle|coated pit|Golgi apparatus|nucleus|postsynaptic membrane|presynaptic membrane 1-phosphatidylinositol binding|clathrin heavy chain binding endometrium(1)|kidney(2)|large_intestine(2)|liver(1)|lung(10)|ovary(1)|skin(1)|urinary_tract(1) 19 Acute lymphoblastic leukemia(157;7.42e-07)|all_hematologic(158;0.00092) TGTTCTCATAACTCCATCAGC 0.333 T """MLLT10, MLL""" """TALL, AML, """ 3 13 --- --- --- --- RBL2 5934 broad.mit.edu 37 16 53504028 53504028 + Missense_Mutation SNP A A G TCGA-HC-8266-01A-11D-2260-08 TCGA-HC-8266-10A-01D-2260-08 Untested Somatic Phase_I WXS none Illumina GAIIx 79d05b35-8616-4147-af78-8bf33fa45499 ef3312fd-0ef1-4d54-9cea-4bf59a6ebf85 g.chr16:53504028A>G ENST00000262133.6 + 15 2313 c.2176A>G c.(2176-2178)Act>Gct p.T726A RBL2_ENST00000544545.1_Intron|RBL2_ENST00000379935.4_3'UTR NM_005611.3 NP_005602.3 Q08999 RBL2_HUMAN retinoblastoma-like 2 (p130) 726 Pocket; binds E1A.|Spacer. cell cycle|chromatin modification|regulation of cell cycle|regulation of lipid kinase activity|regulation of transcription, DNA-dependent|transcription, DNA-dependent cytoplasm|nucleolus DNA binding|protein binding breast(3)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(8)|lung(17)|ovary(4)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 45 TCCTGGACAGACTTTGGTCAC 0.547 10 42 --- --- --- --- KRTAP19-6 337973 broad.mit.edu 37 21 31914086 31914086 + Missense_Mutation SNP A A T TCGA-HC-8266-01A-11D-2260-08 TCGA-HC-8266-10A-01D-2260-08 Untested Somatic Phase_I WXS none Illumina GAIIx 79d05b35-8616-4147-af78-8bf33fa45499 ef3312fd-0ef1-4d54-9cea-4bf59a6ebf85 g.chr21:31914086A>T ENST00000334046.5 - 1 97 c.67T>A c.(67-69)Tat>Aat p.Y23N NM_181612.2 NP_853643.1 Q3LI70 KR196_HUMAN keratin associated protein 19-6 23 intermediate filament breast(1)|large_intestine(2)|lung(5)|upper_aerodigestive_tract(1) 9 CCACAGCCATAGCCCAGACCA 0.522 11 160 --- --- --- ---