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 MACF1 23499 broad.mit.edu 37 1 39908220 39908220 + Missense_Mutation SNP T T C TCGA-J9-A8CN-01A-11D-A34U-08 TCGA-J9-A8CN-10A-01D-A34X-08 Untested Somatic Phase_I WXS none Illumina GAIIx d7211918-5718-4053-bdf8-ec5b69c3c95e a6cf8216-0d6d-4835-b09e-04ee0ae4841c g.chr1:39908220T>C ENST00000564288.1 + 77 19862 c.19085T>C c.(19084-19086)gTt>gCt p.V6362A MACF1_ENST00000372915.3_Missense_Mutation_p.V6261A|MACF1_ENST00000539005.1_Missense_Mutation_p.V4173A|MACF1_ENST00000545844.1_Missense_Mutation_p.V4303A|MACF1_ENST00000361689.2_Missense_Mutation_p.V4303A|MACF1_ENST00000567887.1_Missense_Mutation_p.V6399A|MACF1_ENST00000289893.4_Missense_Mutation_p.V4805A|MACF1_ENST00000317713.7_Missense_Mutation_p.V4303A Q9UPN3 MACF1_HUMAN microtubule-actin crosslinking factor 1 6370 cell cycle arrest|Golgi to plasma membrane protein transport|positive regulation of Wnt receptor signaling pathway|regulation of epithelial cell migration|regulation of focal adhesion assembly|regulation of microtubule-based process|Wnt receptor signaling pathway|wound healing Golgi apparatus|microtubule|ruffle membrane actin filament binding|ATPase activity|calcium ion binding|microtubule binding breast(11)|central_nervous_system(5)|endometrium(18)|haematopoietic_and_lymphoid_tissue(1)|kidney(11)|large_intestine(36)|lung(78)|ovary(12)|prostate(2)|skin(9)|stomach(2)|upper_aerodigestive_tract(8)|urinary_tract(10) 203 Lung NSC(20;5.57e-06)|Ovarian(52;0.00769)|Acute lymphoblastic leukemia(166;0.074) Myeloproliferative disorder(586;0.0255) OV - Ovarian serous cystadenocarcinoma(33;7.78e-19)|Epithelial(16;1.73e-17)|all cancers(16;2.49e-16)|LUSC - Lung squamous cell carcinoma(16;0.00146)|Lung(16;0.00204) GTCATTGAAGTTGAGCTCGCA 0.423 7 68 --- --- --- --- FLG 2312 broad.mit.edu 37 1 152280616 152280616 + Missense_Mutation SNP C C G TCGA-J9-A8CN-01A-11D-A34U-08 TCGA-J9-A8CN-10A-01D-A34X-08 Untested Somatic Phase_I WXS none Illumina GAIIx d7211918-5718-4053-bdf8-ec5b69c3c95e a6cf8216-0d6d-4835-b09e-04ee0ae4841c g.chr1:152280616C>G ENST00000368799.1 - 3 6781 c.6746G>C c.(6745-6747)aGt>aCt p.S2249T FLG-AS1_ENST00000420707.1_RNA|FLG-AS1_ENST00000593011.1_RNA NM_002016.1 NP_002007.1 P20930 FILA_HUMAN filaggrin 2249 Ser-rich. keratinocyte differentiation cytoplasmic membrane-bounded vesicle|intermediate filament calcium ion binding|structural molecule activity autonomic_ganglia(1)|breast(13)|central_nervous_system(5)|cervix(2)|endometrium(38)|haematopoietic_and_lymphoid_tissue(1)|kidney(16)|large_intestine(57)|lung(211)|ovary(13)|pancreas(1)|prostate(15)|skin(24)|stomach(5)|upper_aerodigestive_tract(10)|urinary_tract(12) 424 Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127) LUSC - Lung squamous cell carcinoma(543;0.206) GTGTCCCTCACTGTCACTGTC 0.592 Ichthyosis 6 325 --- --- --- --- LHX9 56956 broad.mit.edu 37 1 197887072 197887072 + Missense_Mutation SNP G G T TCGA-J9-A8CN-01A-11D-A34U-08 TCGA-J9-A8CN-10A-01D-A34X-08 Untested Somatic Phase_I WXS none Illumina GAIIx d7211918-5718-4053-bdf8-ec5b69c3c95e a6cf8216-0d6d-4835-b09e-04ee0ae4841c g.chr1:197887072G>T ENST00000367390.3 + 2 119 c.92G>T c.(91-93)aGa>aTa p.R31I LHX9_ENST00000367391.1_Missense_Mutation_p.R31I|LHX9_ENST00000561173.1_Missense_Mutation_p.R46I|LHX9_ENST00000606127.1_3'UTR|LHX9_ENST00000367387.4_Missense_Mutation_p.R40I|LHX9_ENST00000337020.2_Missense_Mutation_p.R40I NM_001014434.1 NP_001014434.1 Q9NQ69 LHX9_HUMAN LIM homeobox 9 40 motor axon guidance|negative regulation of transcription, DNA-dependent nucleus sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription corepressor activity|zinc ion binding endometrium(8)|kidney(1)|large_intestine(6)|liver(2)|lung(14)|ovary(2)|skin(1)|stomach(1) 35 ATGGAGCGCAGATCCAAGACT 0.667 8 94 --- --- --- --- TPO 7173 broad.mit.edu 37 2 1480927 1480927 + Missense_Mutation SNP G G A TCGA-J9-A8CN-01A-11D-A34U-08 TCGA-J9-A8CN-10A-01D-A34X-08 Untested Somatic Phase_I WXS none Illumina GAIIx d7211918-5718-4053-bdf8-ec5b69c3c95e a6cf8216-0d6d-4835-b09e-04ee0ae4841c g.chr2:1480927G>A ENST00000345913.4 + 8 980 c.889G>A c.(889-891)Ggc>Agc p.G297S TPO_ENST00000349624.3_Intron|TPO_ENST00000346956.3_Missense_Mutation_p.G297S|TPO_ENST00000329066.4_Missense_Mutation_p.G297S|TPO_ENST00000382201.3_Missense_Mutation_p.G297S|TPO_ENST00000497517.2_Intron|TPO_ENST00000382198.1_Intron|TPO_ENST00000337415.3_Missense_Mutation_p.G297S NM_000547.5 NP_000538.3 P07202 PERT_HUMAN thyroid peroxidase 297 cellular nitrogen compound metabolic process|hormone biosynthetic process|hydrogen peroxide catabolic process cell surface|cytoplasm|integral to plasma membrane calcium ion binding|heme binding|iodide peroxidase activity breast(1)|central_nervous_system(3)|endometrium(8)|kidney(4)|large_intestine(14)|liver(2)|lung(33)|ovary(8)|pancreas(6)|prostate(4)|skin(7)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(2) 95 all_hematologic(175;0.0487)|Acute lymphoblastic leukemia(172;0.0627) all_cancers(51;0.0338) all cancers(51;0.0356)|OV - Ovarian serous cystadenocarcinoma(76;0.0748)|Epithelial(75;0.12) Carbimazole(DB00389)|Methimazole(DB00763)|Propylthiouracil(DB00550) GGCCGCCTGCGGCACCGGGGA 0.692 3 8 --- --- --- --- RGPD3 653489 broad.mit.edu 37 2 107049681 107049681 + Missense_Mutation SNP T T C TCGA-J9-A8CN-01A-11D-A34U-08 TCGA-J9-A8CN-10A-01D-A34X-08 Untested Somatic Phase_I WXS none Illumina GAIIx d7211918-5718-4053-bdf8-ec5b69c3c95e a6cf8216-0d6d-4835-b09e-04ee0ae4841c g.chr2:107049681T>C ENST00000409886.3 - 16 2353 c.2266A>G c.(2266-2268)Aac>Gac p.N756D RGPD3_ENST00000304514.7_Missense_Mutation_p.N756D NM_001144013.1 NP_001137485.1 A6NKT7 RGPD3_HUMAN RANBP2-like and GRIP domain containing 3 756 intracellular transport binding p.N756D(6) breast(2)|central_nervous_system(1)|endometrium(50)|kidney(4)|lung(11)|ovary(1)|urinary_tract(2) 71 TCACTATAGTTTTCGAGTTCC 0.373 6 295 --- --- --- --- DDR1 780 broad.mit.edu 37 6 30859877 30859877 + Missense_Mutation SNP A A G TCGA-J9-A8CN-01A-11D-A34U-08 TCGA-J9-A8CN-10A-01D-A34X-08 Untested Somatic Phase_I WXS none Illumina GAIIx d7211918-5718-4053-bdf8-ec5b69c3c95e a6cf8216-0d6d-4835-b09e-04ee0ae4841c g.chr6:30859877A>G ENST00000324771.8 + 9 1312 c.764A>G c.(763-765)tAt>tGt p.Y255C DDR1_ENST00000508472.1_3'UTR|DDR1_ENST00000454612.2_Missense_Mutation_p.Y255C|DDR1_ENST00000513240.1_Missense_Mutation_p.Y255C|DDR1_ENST00000452441.1_Missense_Mutation_p.Y255C|DDR1_ENST00000376567.2_Missense_Mutation_p.Y255C|DDR1_ENST00000418800.2_Missense_Mutation_p.Y255C|DDR1_ENST00000446312.1_Missense_Mutation_p.M222V|DDR1_ENST00000376575.3_Missense_Mutation_p.Y255C|DDR1_ENST00000376568.3_Missense_Mutation_p.Y255C|DDR1_ENST00000376569.3_Missense_Mutation_p.Y255C|DDR1_ENST00000376570.4_Missense_Mutation_p.Y255C|DDR1_ENST00000361741.4_5'UTR|DDR1_ENST00000508312.1_Missense_Mutation_p.Y273C Q08345 DDR1_HUMAN discoidin domain receptor tyrosine kinase 1 255 cell adhesion|transmembrane receptor protein tyrosine kinase signaling pathway extracellular region|integral to plasma membrane ATP binding|protein binding|transmembrane receptor protein tyrosine kinase activity central_nervous_system(3)|endometrium(2)|kidney(1)|large_intestine(5)|liver(1)|lung(14)|ovary(1)|prostate(1)|skin(1) 29 Imatinib(DB00619) GGCTATGACTATGTGGGATGG 0.577 8 129 --- --- --- --- NDUFB9 4715 broad.mit.edu 37 8 125555467 125555467 + Missense_Mutation SNP A A G TCGA-J9-A8CN-01A-11D-A34U-08 TCGA-J9-A8CN-10A-01D-A34X-08 Untested Somatic Phase_I WXS none Illumina GAIIx d7211918-5718-4053-bdf8-ec5b69c3c95e a6cf8216-0d6d-4835-b09e-04ee0ae4841c g.chr8:125555467A>G ENST00000522532.1 + 2 288 c.241A>G c.(241-243)Atc>Gtc p.I81V NDUFB9_ENST00000517367.1_Missense_Mutation_p.I70V|NDUFB9_ENST00000276689.3_Missense_Mutation_p.I81V|NDUFB9_ENST00000518008.1_Missense_Mutation_p.I81V Q9Y6M9 NDUB9_HUMAN NADH dehydrogenase (ubiquinone) 1 beta subcomplex, 9, 22kDa 81 mitochondrial electron transport, NADH to ubiquinone|sensory perception of sound|transport mitochondrial respiratory chain complex I NADH dehydrogenase (ubiquinone) activity kidney(1)|large_intestine(2)|lung(2)|ovary(1)|prostate(1)|skin(1) 8 Ovarian(258;0.00438)|all_neural(195;0.0779)|Hepatocellular(40;0.108) STAD - Stomach adenocarcinoma(47;0.00288) NADH(DB00157) ACAGCCATACATCTTCCCTGA 0.473 5 60 --- --- --- --- DENND1A 57706 broad.mit.edu 37 9 126146148 126146148 + Missense_Mutation SNP C C T TCGA-J9-A8CN-01A-11D-A34U-08 TCGA-J9-A8CN-10A-01D-A34X-08 Untested Somatic Phase_I WXS none Illumina GAIIx d7211918-5718-4053-bdf8-ec5b69c3c95e a6cf8216-0d6d-4835-b09e-04ee0ae4841c g.chr9:126146148C>T ENST00000373624.2 - 21 1823 c.1622G>A c.(1621-1623)gGc>gAc p.G541D DENND1A_ENST00000394219.3_Missense_Mutation_p.G552D|DENND1A_ENST00000542603.1_Missense_Mutation_p.G326D|DENND1A_ENST00000473039.1_5'UTR NM_020946.1 NP_065997.1 Q8TEH3 DEN1A_HUMAN DENN/MADD domain containing 1A 541 cell junction|clathrin coated vesicle membrane|presynaptic membrane guanyl-nucleotide exchange factor activity breast(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(12)|liver(2)|lung(18)|ovary(2)|prostate(1)|skin(1)|stomach(1) 43 TGCCTCGTCGCCTTCCGCGCT 0.657 6 100 --- --- --- --- RALGDS 5900 broad.mit.edu 37 9 135979208 135979208 + Missense_Mutation SNP C C T TCGA-J9-A8CN-01A-11D-A34U-08 TCGA-J9-A8CN-10A-01D-A34X-08 Untested Somatic Phase_I WXS none Illumina GAIIx d7211918-5718-4053-bdf8-ec5b69c3c95e a6cf8216-0d6d-4835-b09e-04ee0ae4841c g.chr9:135979208C>T ENST00000393160.3 - 11 1872 c.1519G>A c.(1519-1521)Ggc>Agc p.G507S RALGDS_ENST00000372062.3_Missense_Mutation_p.G533S|RALGDS_ENST00000393157.3_Missense_Mutation_p.G561S|RALGDS_ENST00000372047.3_Missense_Mutation_p.G550S|RALGDS_ENST00000469972.1_5'UTR|RALGDS_ENST00000542690.1_Missense_Mutation_p.G633S|RALGDS_ENST00000372050.3_Missense_Mutation_p.G562S NM_001042368.1 NP_001035827.1 Q12967 GNDS_HUMAN ral guanine nucleotide dissociation stimulator 562 Ras-GEF. nerve growth factor receptor signaling pathway|Ras protein signal transduction|regulation of small GTPase mediated signal transduction cytosol Ral guanyl-nucleotide exchange factor activity endometrium(1)|large_intestine(4)|lung(2)|ovary(1)|upper_aerodigestive_tract(2) 10 OV - Ovarian serous cystadenocarcinoma(145;3.66e-06)|Epithelial(140;2.77e-05) GGAACGGTGCCCTGGATGATG 0.607 T CIITA """PMBL, Hodgkin Lymphona, """ OREG0019581 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 24 51 --- --- --- --- OR5AS1 219447 broad.mit.edu 37 11 55798756 55798756 + Missense_Mutation SNP A A G TCGA-J9-A8CN-01A-11D-A34U-08 TCGA-J9-A8CN-10A-01D-A34X-08 Untested Somatic Phase_I WXS none Illumina GAIIx d7211918-5718-4053-bdf8-ec5b69c3c95e a6cf8216-0d6d-4835-b09e-04ee0ae4841c g.chr11:55798756A>G ENST00000313555.1 + 1 862 c.862A>G c.(862-864)Ata>Gta p.I288V NM_001001921.1 NP_001001921.1 Q8N127 O5AS1_HUMAN olfactory receptor, family 5, subfamily AS, member 1 288 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity endometrium(7)|large_intestine(7)|liver(1)|lung(22)|ovary(3)|prostate(4)|skin(3)|stomach(1) 48 Esophageal squamous(21;0.00693) GTTTAATCCAATAATTTATAG 0.333 3 68 --- --- --- --- KSR2 283455 broad.mit.edu 37 12 118199016 118199016 + Silent SNP C C T TCGA-J9-A8CN-01A-11D-A34U-08 TCGA-J9-A8CN-10A-01D-A34X-08 Untested Somatic Phase_I WXS none Illumina GAIIx d7211918-5718-4053-bdf8-ec5b69c3c95e a6cf8216-0d6d-4835-b09e-04ee0ae4841c g.chr12:118199016C>T ENST00000425217.1 - 4 753 c.699G>A c.(697-699)ccG>ccA p.P233P KSR2_ENST00000339824.5_Silent_p.P262P NM_173598.4 NP_775869.3 Q6VAB6 KSR2_HUMAN kinase suppressor of ras 2 262 Pro-rich. intracellular signal transduction cytoplasm|membrane ATP binding|metal ion binding|protein serine/threonine kinase activity NS(1)|breast(3)|central_nervous_system(2)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|lung(25)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 67 all_neural(191;0.0804)|Medulloblastoma(191;0.0922) TGGGGGTGCGCGGCGGGGTGC 0.751 6 229 --- --- --- --- MYH7 4625 broad.mit.edu 37 14 23885342 23885342 + Silent SNP G G T TCGA-J9-A8CN-01A-11D-A34U-08 TCGA-J9-A8CN-10A-01D-A34X-08 Untested Somatic Phase_I WXS none Illumina GAIIx d7211918-5718-4053-bdf8-ec5b69c3c95e a6cf8216-0d6d-4835-b09e-04ee0ae4841c g.chr14:23885342G>T ENST00000355349.3 - 34 4986 c.4824C>A c.(4822-4824)cgC>cgA p.R1608R NM_000257.2 NP_000248.2 P12883 MYH7_HUMAN myosin, heavy chain 7, cardiac muscle, beta 1608 adult heart development|muscle filament sliding|regulation of heart rate|ventricular cardiac muscle tissue morphogenesis focal adhesion|muscle myosin complex|myosin filament|nucleus|sarcomere actin binding|actin-dependent ATPase activity|ATP binding|calmodulin binding|microfilament motor activity|structural constituent of muscle NS(3)|breast(4)|central_nervous_system(2)|cervix(2)|endometrium(14)|haematopoietic_and_lymphoid_tissue(3)|kidney(5)|large_intestine(19)|lung(57)|ovary(5)|prostate(9)|skin(5)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(5) 137 all_cancers(95;2.54e-05) GBM - Glioblastoma multiforme(265;0.00725) GGGCCTCGTTGCGGCTGCGTG 0.627 11 96 --- --- --- --- LRRK1 79705 broad.mit.edu 37 15 101595338 101595338 + Silent SNP G G A TCGA-J9-A8CN-01A-11D-A34U-08 TCGA-J9-A8CN-10A-01D-A34X-08 Untested Somatic Phase_I WXS none Illumina GAIIx d7211918-5718-4053-bdf8-ec5b69c3c95e a6cf8216-0d6d-4835-b09e-04ee0ae4841c g.chr15:101595338G>A ENST00000284395.5 + 28 4633 c.4233G>A c.(4231-4233)agG>agA p.R1411R LRRK1_ENST00000388948.3_Silent_p.R1414R|RP11-505E24.2_ENST00000559857.1_RNA Q38SD2 LRRK1_HUMAN leucine-rich repeat kinase 1 1414 Protein kinase. small GTPase mediated signal transduction mitochondrion ATP binding|GTP binding|metal ion binding|protein binding|protein serine/threonine kinase activity breast(2)|central_nervous_system(6)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(14)|lung(25)|ovary(4)|prostate(1)|skin(1) 72 Melanoma(26;0.00505)|Lung NSC(78;0.00793)|all_lung(78;0.0094) OV - Ovarian serous cystadenocarcinoma(32;0.000932)|LUSC - Lung squamous cell carcinoma(107;0.187)|Lung(145;0.23) GGATTTCGAGGCAGTCATTCC 0.537 24 43 --- --- --- --- MBTPS1 8720 broad.mit.edu 37 16 84121008 84121008 + Missense_Mutation SNP A A C TCGA-J9-A8CN-01A-11D-A34U-08 TCGA-J9-A8CN-10A-01D-A34X-08 Untested Somatic Phase_I WXS none Illumina GAIIx d7211918-5718-4053-bdf8-ec5b69c3c95e a6cf8216-0d6d-4835-b09e-04ee0ae4841c g.chr16:84121008A>C ENST00000343411.3 - 9 1584 c.1089T>G c.(1087-1089)ttT>ttG p.F363L MBTPS1_ENST00000569770.1_5'UTR NM_003791.2 NP_003782.1 Q14703 MBTP1_HUMAN membrane-bound transcription factor peptidase, site 1 363 Serine protease. cholesterol metabolic process|proteolysis endoplasmic reticulum lumen|endoplasmic reticulum membrane|Golgi membrane|integral to membrane serine-type endopeptidase activity NS(1)|breast(2)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(12)|lung(10)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 41 TGTTATCTTCAAAGTCAATGC 0.383 15 84 --- --- --- --- C19orf44 84167 broad.mit.edu 37 19 16611793 16611793 + Missense_Mutation SNP C C A TCGA-J9-A8CN-01A-11D-A34U-08 TCGA-J9-A8CN-10A-01D-A34X-08 Untested Somatic Phase_I WXS none Illumina GAIIx d7211918-5718-4053-bdf8-ec5b69c3c95e a6cf8216-0d6d-4835-b09e-04ee0ae4841c g.chr19:16611793C>A ENST00000221671.3 + 2 346 c.190C>A c.(190-192)Ctg>Atg p.L64M C19orf44_ENST00000594035.1_Missense_Mutation_p.L64M|CTD-3222D19.2_ENST00000409035.1_Intron NM_032207.2 NP_115583.1 Q9H6X5 CS044_HUMAN chromosome 19 open reading frame 44 64 endometrium(1)|large_intestine(5)|lung(5)|ovary(1)|skin(1)|stomach(1)|urinary_tract(2) 16 ACACTTACTCCTGAAAGAGAA 0.478 63 96 --- --- --- --- ZNF91 7644 broad.mit.edu 37 19 23544860 23544860 + Silent SNP T T A TCGA-J9-A8CN-01A-11D-A34U-08 TCGA-J9-A8CN-10A-01D-A34X-08 Untested Somatic Phase_I WXS none Illumina GAIIx d7211918-5718-4053-bdf8-ec5b69c3c95e a6cf8216-0d6d-4835-b09e-04ee0ae4841c g.chr19:23544860T>A ENST00000300619.7 - 4 1126 c.921A>T c.(919-921)tcA>tcT p.S307S ZNF91_ENST00000599743.1_Intron|ZNF91_ENST00000397082.2_Silent_p.S275S NM_003430.2 NP_003421.2 Q05481 ZNF91_HUMAN zinc finger protein 91 307 nucleus DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding all_lung(12;0.0349)|Lung NSC(12;0.0538)|all_epithelial(12;0.0611) TAGCAAGGGTTGAAGAATGGC 0.398 53 81 --- --- --- --- PFKL 5211 broad.mit.edu 37 21 45745845 45745845 + Splice_Site SNP G G A TCGA-J9-A8CN-01A-11D-A34U-08 TCGA-J9-A8CN-10A-01D-A34X-08 Untested Somatic Phase_I WXS none Illumina GAIIx d7211918-5718-4053-bdf8-ec5b69c3c95e a6cf8216-0d6d-4835-b09e-04ee0ae4841c g.chr21:45745845G>A ENST00000403390.1 + 21 2132 c.2132G>A c.(2131-2133)gGt>gAt p.G711D PFKL_ENST00000349048.4_Splice_Site_p.G664D P17858 K6PL_HUMAN phosphofructokinase, liver 664 fructose 6-phosphate metabolic process|glycolysis|protein oligomerization 6-phosphofructokinase complex 6-phosphofructokinase activity|ATP binding|fructose-6-phosphate binding|identical protein binding|kinase binding|metal ion binding cervix(1)|endometrium(1)|kidney(2)|large_intestine(1)|lung(10)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2) 23 Colorectal(79;0.0811) TGTTTCCAGGGTGGCGCTCCA 0.657 7 8 --- --- --- ---