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 SI 6476 broad.mit.edu 37 3 164792423 164792423 + Missense_Mutation SNP T T C TCGA-S9-A7IS-01A-11D-A34A-08 TCGA-S9-A7IS-10A-01D-A34A-08 Untested Somatic Phase_I WXS none Illumina GAIIx fd7e72c6-76b7-4a02-88c6-3758b6236763 55d139ea-5e3d-418f-aaa1-e4f54b9f82c1 g.chr3:164792423T>C ENST00000264382.3 - 3 213 c.151A>G c.(151-153)Act>Gct p.T51A NM_001041.3 NP_001032.2 P14410 SUIS_HUMAN sucrase-isomaltase (alpha-glucosidase) 51 Ser/Thr-rich. carbohydrate metabolic process|polysaccharide digestion apical plasma membrane|brush border|Golgi apparatus|integral to membrane carbohydrate binding|oligo-1,6-glucosidase activity|sucrose alpha-glucosidase activity NS(4)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(6)|kidney(10)|large_intestine(18)|lung(124)|ovary(9)|pancreas(1)|prostate(6)|skin(6)|upper_aerodigestive_tract(16)|urinary_tract(1) 218 Prostate(884;0.00314)|Melanoma(1037;0.0153)|all_neural(597;0.0199) Acarbose(DB00284) GTCACACGAGTAGTAGCTGGA 0.333000 HNSCC(35;0.089) 23 62 0 0 1 0 0 ADAM2 2515 broad.mit.edu 37 8 39678649 39678649 + Missense_Mutation SNP G G T TCGA-S9-A7IS-01A-11D-A34A-08 TCGA-S9-A7IS-10A-01D-A34A-08 Untested Somatic Phase_I WXS none Illumina GAIIx fd7e72c6-76b7-4a02-88c6-3758b6236763 55d139ea-5e3d-418f-aaa1-e4f54b9f82c1 g.chr8:39678649G>T ENST00000265708.4 - 6 488 c.385C>A c.(385-387)Ccc>Acc p.P129T ADAM2_ENST00000521880.1_Missense_Mutation_p.P129T|ADAM2_ENST00000523181.1_5'UTR|ADAM2_ENST00000347580.4_Missense_Mutation_p.P129T|ADAM2_ENST00000379853.2_Missense_Mutation_p.P129T NM_001464.3 NP_001455.3 Q99965 ADAM2_HUMAN ADAM metallopeptidase domain 2 129 cell adhesion|fusion of sperm to egg plasma membrane|proteolysis integral to plasma membrane integrin binding|metalloendopeptidase activity|zinc ion binding haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(11)|lung(29)|ovary(3)|prostate(1)|skin(5)|urinary_tract(1) 53 all_cancers(7;2.38e-28)|all_epithelial(6;8.85e-21)|all_lung(54;1.24e-07)|Lung NSC(58;1.94e-07)|Hepatocellular(245;0.00745)|Breast(189;0.00908)|Renal(179;0.0183)|Colorectal(162;0.246) LUSC - Lung squamous cell carcinoma(45;0.000149) READ - Rectum adenocarcinoma(644;0.0689)|Kidney(114;0.162) GACTCCAGGGGTTCTATTCCA 0.308000 24 61 1.64293e-13 1.76199e-13 1 1 0 RP11-204M4.2 0 broad.mit.edu 37 9 41963905 41963905 + RNA SNP C C T TCGA-S9-A7IS-01A-11D-A34A-08 TCGA-S9-A7IS-10A-01D-A34A-08 Untested Somatic Phase_I WXS none Illumina GAIIx fd7e72c6-76b7-4a02-88c6-3758b6236763 55d139ea-5e3d-418f-aaa1-e4f54b9f82c1 g.chr9:41963905C>T ENST00000454645.1 - 0 690 NR_003670.1 CTTTGATTGCCACAATCCCAA 0.388000 14 125 0 0 1 0 0 WNK1 65125 broad.mit.edu 37 12 862984 862984 + Missense_Mutation SNP A A G TCGA-S9-A7IS-01A-11D-A34A-08 TCGA-S9-A7IS-10A-01D-A34A-08 Untested Somatic Phase_I WXS none Illumina GAIIx fd7e72c6-76b7-4a02-88c6-3758b6236763 55d139ea-5e3d-418f-aaa1-e4f54b9f82c1 g.chr12:862984A>G ENST00000537687.1 + 1 896 c.253A>G c.(253-255)Atc>Gtc p.I85V WNK1_ENST00000447667.2_Missense_Mutation_p.I85V|WNK1_ENST00000315939.6_Missense_Mutation_p.I85V|WNK1_ENST00000530271.2_Missense_Mutation_p.I85V|WNK1_ENST00000535572.1_Missense_Mutation_p.I85V NM_001184985.1|NM_213655.4 NP_001171914.1|NP_998820.3 Q9H4A3 WNK1_HUMAN WNK lysine deficient protein kinase 1 85 intracellular protein kinase cascade|ion transport|neuron development cytoplasm ATP binding|protein binding|protein kinase inhibitor activity|protein serine/threonine kinase activity breast(7)|central_nervous_system(1)|endometrium(3)|kidney(6)|large_intestine(15)|lung(43)|ovary(6)|prostate(3)|skin(7)|stomach(8)|upper_aerodigestive_tract(3)|urinary_tract(2) 104 all_cancers(10;0.00611)|all_epithelial(11;0.00825)|all_lung(10;0.0331)|Ovarian(42;0.0512)|Lung NSC(10;0.0632) Epithelial(1;1.74e-08)|all cancers(1;7.04e-08)|OV - Ovarian serous cystadenocarcinoma(31;0.000423)|BRCA - Breast invasive adenocarcinoma(9;0.0149)|Colorectal(1;0.0197) CCGGAGCGTCATCTGTGACTC 0.672000 15 31 0 0 1 0 0 IGSF1 3547 broad.mit.edu 37 X 130409952 130409952 + Missense_Mutation SNP A A G TCGA-S9-A7IS-01A-11D-A34A-08 TCGA-S9-A7IS-10A-01D-A34A-08 Untested Somatic Phase_I WXS none Illumina GAIIx fd7e72c6-76b7-4a02-88c6-3758b6236763 55d139ea-5e3d-418f-aaa1-e4f54b9f82c1 g.chrX:130409952A>G ENST00000370904.1 - 21 3762 c.2852T>C c.(2851-2853)cTt>cCt p.L951P IGSF1_ENST00000370910.1_Missense_Mutation_p.L951P|IGSF1_ENST00000467244.1_Intron|IGSF1_ENST00000361420.3_Missense_Mutation_p.L960P|IGSF1_ENST00000370903.3_Missense_Mutation_p.L965P Q8N6C5 IGSF1_HUMAN immunoglobulin superfamily, member 1 960 Ig-like C2-type 9. regulation of transcription, DNA-dependent extracellular region|integral to membrane inhibin beta-A binding|inhibin beta-B binding breast(2)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(15)|liver(1)|lung(37)|ovary(4)|skin(3)|upper_aerodigestive_tract(2) 78 CCAGATCATAAGGGGCATACT 0.507000 37 68 0 0 1 0 0 PDGFRA 5156 broad.mit.edu 37 4 55138644 55138644 + Missense_Mutation SNP C C T TCGA-S9-A7IS-01A-11D-A34A-08 TCGA-S9-A7IS-10A-01D-A34A-08 Untested Somatic Phase_I WXS none Illumina GAIIx fd7e72c6-76b7-4a02-88c6-3758b6236763 55d139ea-5e3d-418f-aaa1-e4f54b9f82c1 g.chr4:55138644C>T ENST00000257290.5 + 9 1652 c.1321C>T c.(1321-1323)Ccg>Tcg p.P441S FIP1L1_ENST00000507166.1_Intron NM_006206.4 NP_006197.1 P16234 PGFRA_HUMAN platelet-derived growth factor receptor, alpha polypeptide 441 Ig-like C2-type 5. cardiac myofibril assembly|cell activation|luteinization|metanephric glomerular capillary formation|peptidyl-tyrosine phosphorylation|positive regulation of cell migration|positive regulation of DNA replication|positive regulation of fibroblast proliferation|protein autophosphorylation|retina vasculature development in camera-type eye cytoplasm|integral to plasma membrane|nucleus ATP binding|platelet-derived growth factor alpha-receptor activity|platelet-derived growth factor binding|platelet-derived growth factor receptor binding|protein homodimerization activity|vascular endothelial growth factor receptor activity NS(1)|autonomic_ganglia(1)|bone(1)|breast(4)|central_nervous_system(17)|cervix(1)|endometrium(4)|eye(1)|gastrointestinal_tract_(site_indeterminate)(1)|haematopoietic_and_lymphoid_tissue(22)|kidney(6)|large_intestine(26)|liver(4)|lung(48)|ovary(4)|prostate(6)|skin(11)|small_intestine(49)|soft_tissue(727)|stomach(32)|urinary_tract(1) 967 all_cancers(7;0.000425)|all_lung(4;0.000343)|Lung NSC(11;0.000467)|all_epithelial(27;0.0131)|all_neural(26;0.0209)|Glioma(25;0.08) GBM - Glioblastoma multiforme(1;4.18e-71)|all cancers(1;4.76e-45)|LUSC - Lung squamous cell carcinoma(32;0.00256) Becaplermin(DB00102)|Imatinib(DB00619)|Sunitinib(DB01268) TGAAGGCACGCCGCTTCCTGA 0.468000 """Mis, O, T""" FIP1L1 """GIST, idiopathic hypereosinophilic syndrome, paediatric GBM""" Gastrointestinal Stromal Tumors, Sporadic Multiple Primary;Familial Intestinal Neurofibromatosis TSP Lung(21;0.16) 10 1164 0 0 1 0 0 KLK12 43849 broad.mit.edu 37 19 51535256 51535256 + Silent SNP C C A TCGA-S9-A7IS-01A-11D-A34A-08 TCGA-S9-A7IS-10A-01D-A34A-08 Untested Somatic Phase_I WXS none Illumina GAIIx fd7e72c6-76b7-4a02-88c6-3758b6236763 55d139ea-5e3d-418f-aaa1-e4f54b9f82c1 g.chr19:51535256C>A ENST00000525263.1 - 3 452 c.333G>T c.(331-333)ctG>ctT p.L111L KLK12_ENST00000529888.1_Intron|KLK12_ENST00000250352.11_Intron|CTC-518B2.9_ENST00000594910.1_RNA|KLK12_ENST00000319590.4_Silent_p.L111L|KLK12_ENST00000250351.4_Silent_p.L111L Q9UKR0 KLK12_HUMAN kallikrein-related peptidase 12 111 Peptidase S1. proteolysis extracellular region|soluble fraction serine-type endopeptidase activity endometrium(1)|large_intestine(4)|lung(3)|ovary(1)|skin(1)|stomach(1)|urinary_tract(1) 12 all_neural(266;0.026) OV - Ovarian serous cystadenocarcinoma(262;0.00328)|GBM - Glioblastoma multiforme(134;0.00399) GCAGCCGCAGCAGCCGGAGGT 0.682000 19 21 7.41877e-09 7.73224e-09 1 1 0 PDGFRA 5156 broad.mit.edu 37 4 55136847 55136847 + Missense_Mutation SNP G G A TCGA-S9-A7IS-01A-11D-A34A-08 TCGA-S9-A7IS-10A-01D-A34A-08 Untested Somatic Phase_I WXS none Illumina GAIIx fd7e72c6-76b7-4a02-88c6-3758b6236763 55d139ea-5e3d-418f-aaa1-e4f54b9f82c1 g.chr4:55136847G>A ENST00000257290.5 + 8 1500 c.1169G>A c.(1168-1170)gGc>gAc p.G390D FIP1L1_ENST00000507166.1_Intron NM_006206.4 NP_006197.1 P16234 PGFRA_HUMAN platelet-derived growth factor receptor, alpha polypeptide 390 Ig-like C2-type 4. cardiac myofibril assembly|cell activation|luteinization|metanephric glomerular capillary formation|peptidyl-tyrosine phosphorylation|positive regulation of cell migration|positive regulation of DNA replication|positive regulation of fibroblast proliferation|protein autophosphorylation|retina vasculature development in camera-type eye cytoplasm|integral to plasma membrane|nucleus ATP binding|platelet-derived growth factor alpha-receptor activity|platelet-derived growth factor binding|platelet-derived growth factor receptor binding|protein homodimerization activity|vascular endothelial growth factor receptor activity NS(1)|autonomic_ganglia(1)|bone(1)|breast(4)|central_nervous_system(17)|cervix(1)|endometrium(4)|eye(1)|gastrointestinal_tract_(site_indeterminate)(1)|haematopoietic_and_lymphoid_tissue(22)|kidney(6)|large_intestine(26)|liver(4)|lung(48)|ovary(4)|prostate(6)|skin(11)|small_intestine(49)|soft_tissue(727)|stomach(32)|urinary_tract(1) 967 all_cancers(7;0.000425)|all_lung(4;0.000343)|Lung NSC(11;0.000467)|all_epithelial(27;0.0131)|all_neural(26;0.0209)|Glioma(25;0.08) GBM - Glioblastoma multiforme(1;4.18e-71)|all cancers(1;4.76e-45)|LUSC - Lung squamous cell carcinoma(32;0.00256) Becaplermin(DB00102)|Imatinib(DB00619)|Sunitinib(DB01268) GAAGACAGTGGCCATTATACT 0.348000 """Mis, O, T""" FIP1L1 """GIST, idiopathic hypereosinophilic syndrome, paediatric GBM""" Gastrointestinal Stromal Tumors, Sporadic Multiple Primary;Familial Intestinal Neurofibromatosis TSP Lung(21;0.16) 138 1007 0 0 1 0 0 AGAP10 728127 broad.mit.edu 37 10 47207813 47207813 + Splice_Site SNP T T C TCGA-S9-A7IS-01A-11D-A34A-08 TCGA-S9-A7IS-10A-01D-A34A-08 Untested Somatic Phase_I WXS none Illumina GAIIx fd7e72c6-76b7-4a02-88c6-3758b6236763 55d139ea-5e3d-418f-aaa1-e4f54b9f82c1 g.chr10:47207813T>C ENST00000355232.3 - 5 3482 c.471_splice c.e5+1 p.H157_splice AGAP10_ENST00000452145.2_Splice_Site_p.H132_splice|RP11-144G6.12_ENST00000605970.1_RNA|AGAP10_ENST00000413193.2_Splice_Site_p.H228_splice ArfGAP with GTPase domain, ankyrin repeat and PH domain 10 p.H228R(20) endometrium(5)|kidney(3)|lung(1)|prostate(2)|urinary_tract(1) 12 TTTACTTACATGGTTTGTACA 0.294000 4 68 0 0 1 0 0 LYSMD4 145748 broad.mit.edu 37 15 100269717 100269717 + Missense_Mutation SNP C C T TCGA-S9-A7IS-01A-11D-A34A-08 TCGA-S9-A7IS-10A-01D-A34A-08 Untested Somatic Phase_I WXS none Illumina GAIIx fd7e72c6-76b7-4a02-88c6-3758b6236763 55d139ea-5e3d-418f-aaa1-e4f54b9f82c1 g.chr15:100269717C>T ENST00000545021.1 - 4 938 c.124G>A c.(124-126)Ggc>Agc p.G42S LYSMD4_ENST00000604213.1_Intron|LYSMD4_ENST00000332728.4_Missense_Mutation_p.G168S|LYSMD4_ENST00000344791.2_Missense_Mutation_p.G169S|LYSMD4_ENST00000409796.1_Missense_Mutation_p.G168S Q5XG99 LYSM4_HUMAN LysM, putative peptidoglycan-binding, domain containing 4 168 cell wall macromolecule catabolic process integral to membrane breast(1)|cervix(1)|kidney(2)|large_intestine(2)|lung(3)|stomach(1) 10 Lung NSC(78;0.00335)|all_lung(78;0.00659)|Melanoma(26;0.00778)|Medulloblastoma(229;0.163) OV - Ovarian serous cystadenocarcinoma(32;0.00162)|LUSC - Lung squamous cell carcinoma(107;0.17)|Lung(145;0.208) TTAAAGAAGCCCATCAGTTGG 0.567000 41 113 0 0 1 0 0 ZSCAN10 84891 broad.mit.edu 37 16 3140076 3140076 + Silent SNP C C T TCGA-S9-A7IS-01A-11D-A34A-08 TCGA-S9-A7IS-10A-01D-A34A-08 Untested Somatic Phase_I WXS none Illumina GAIIx fd7e72c6-76b7-4a02-88c6-3758b6236763 55d139ea-5e3d-418f-aaa1-e4f54b9f82c1 g.chr16:3140076C>T ENST00000252463.2 - 5 1281 c.1194G>A c.(1192-1194)gcG>gcA p.A398A ZSCAN10_ENST00000575108.1_Silent_p.A59A|ZSCAN10_ENST00000538082.2_Silent_p.A316A NM_032805.1 NP_116194.1 Q96SZ4 ZSC10_HUMAN zinc finger and SCAN domain containing 10 398 negative regulation of transcription, DNA-dependent|viral reproduction nucleus sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding breast(1)|cervix(3)|endometrium(3)|kidney(1)|lung(8)|ovary(2)|prostate(1)|skin(4)|urinary_tract(1) 24 CCTGGGCGTGCGCCAGCAGGT 0.697000 12 14 0 0 1 0 0 MACF1 23499 broad.mit.edu 37 1 39950322 39950322 + Missense_Mutation SNP A A C TCGA-S9-A7IS-01A-11D-A34A-08 TCGA-S9-A7IS-10A-01D-A34A-08 Untested Somatic Phase_I WXS none Illumina GAIIx fd7e72c6-76b7-4a02-88c6-3758b6236763 55d139ea-5e3d-418f-aaa1-e4f54b9f82c1 g.chr1:39950322A>C ENST00000564288.1 + 100 23108 c.22331A>C c.(22330-22332)cAt>cCt p.H7444P MACF1_ENST00000289893.4_Missense_Mutation_p.H5827P|MACF1_ENST00000567887.1_Missense_Mutation_p.H7481P|MACF1_ENST00000317713.7_Missense_Mutation_p.H5319P|MACF1_ENST00000372915.3_Missense_Mutation_p.H7277P|MACF1_ENST00000539005.1_Missense_Mutation_p.H5189P|MACF1_ENST00000545844.1_Missense_Mutation_p.H5319P|MACF1_ENST00000361689.2_Missense_Mutation_p.H5319P Q9UPN3 MACF1_HUMAN microtubule-actin crosslinking factor 1 7277 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) CCAACTTTTCATTCTAGTCGG 0.438000 10 168 0 0 1 0 0 IL12RB2 3595 broad.mit.edu 37 1 67792514 67792514 + Missense_Mutation SNP A A G TCGA-S9-A7IS-01A-11D-A34A-08 TCGA-S9-A7IS-10A-01D-A34A-08 Untested Somatic Phase_I WXS none Illumina GAIIx fd7e72c6-76b7-4a02-88c6-3758b6236763 55d139ea-5e3d-418f-aaa1-e4f54b9f82c1 g.chr1:67792514A>G ENST00000262345.1 + 4 1101 c.461A>G c.(460-462)tAc>tGc p.Y154C IL12RB2_ENST00000544434.1_Missense_Mutation_p.Y154C|IL12RB2_ENST00000371000.1_Missense_Mutation_p.Y154C|IL12RB2_ENST00000541374.1_Missense_Mutation_p.Y154C NM_001559.2 NP_001550.1 Q99665 I12R2_HUMAN interleukin 12 receptor, beta 2 154 Fibronectin type-III 1. positive regulation of cell proliferation|positive regulation of interferon-gamma production integral to plasma membrane cytokine receptor activity breast(3)|central_nervous_system(1)|endometrium(3)|large_intestine(8)|lung(21)|ovary(3)|prostate(1)|skin(4)|upper_aerodigestive_tract(1) 45 ACCCACTTATACACTGAGTAT 0.408000 8 45 0 0 1 0 0 ITGB6 3694 broad.mit.edu 37 2 161030526 161030526 + Missense_Mutation SNP C C T rs140624114 TCGA-S9-A7IS-01A-11D-A34A-08 TCGA-S9-A7IS-10A-01D-A34A-08 Untested Somatic Phase_I WXS none Illumina GAIIx fd7e72c6-76b7-4a02-88c6-3758b6236763 55d139ea-5e3d-418f-aaa1-e4f54b9f82c1 g.chr2:161030526C>T ENST00000283249.2 - 5 955 c.718G>A c.(718-720)Gaa>Aaa p.E240K ITGB6_ENST00000428609.2_Missense_Mutation_p.E198K|ITGB6_ENST00000409967.2_Missense_Mutation_p.E240K|ITGB6_ENST00000409872.1_Missense_Mutation_p.E240K|ITGB6_ENST00000485635.1_5'UTR P18564 ITB6_HUMAN integrin, beta 6 240 VWFA. cell-matrix adhesion|integrin-mediated signaling pathway|interspecies interaction between organisms|multicellular organismal development integrin complex receptor activity breast(1)|endometrium(1)|kidney(2)|large_intestine(8)|lung(7)|ovary(1)|pancreas(1)|prostate(1)|skin(1) 23 AATCCACCTTCGGGTGTGTCA 0.348000 26 43 0 0 1 0 0 AHNAK 79026 broad.mit.edu 37 11 62296869 62296869 + Missense_Mutation SNP A A G TCGA-S9-A7IS-01A-11D-A34A-08 TCGA-S9-A7IS-10A-01D-A34A-08 Untested Somatic Phase_I WXS none Illumina GAIIx fd7e72c6-76b7-4a02-88c6-3758b6236763 55d139ea-5e3d-418f-aaa1-e4f54b9f82c1 g.chr11:62296869A>G ENST00000378024.4 - 5 5294 c.5020T>C c.(5020-5022)Tct>Cct p.S1674P AHNAK_ENST00000257247.7_Intron|AHNAK_ENST00000530124.1_Intron NM_001620.1 NP_001611.1 Q09666 AHNK_HUMAN AHNAK nucleoprotein 1674 nervous system development nucleus protein binding NS(3)|autonomic_ganglia(1)|breast(10)|central_nervous_system(5)|endometrium(17)|haematopoietic_and_lymphoid_tissue(2)|kidney(33)|large_intestine(40)|liver(1)|lung(108)|ovary(13)|pancreas(4)|prostate(5)|skin(16)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(6) 268 Melanoma(852;0.155) TTGGGCACAGACACATCCATA 0.493000 96 319 0 0 1 0 0 OCA2 4948 broad.mit.edu 37 15 28263615 28263615 + Silent SNP C C T TCGA-S9-A7IS-01A-11D-A34A-08 TCGA-S9-A7IS-10A-01D-A34A-08 Untested Somatic Phase_I WXS none Illumina GAIIx fd7e72c6-76b7-4a02-88c6-3758b6236763 55d139ea-5e3d-418f-aaa1-e4f54b9f82c1 g.chr15:28263615C>T ENST00000354638.3 - 7 890 c.735G>A c.(733-735)ggG>ggA p.G245G OCA2_ENST00000353809.5_Silent_p.G245G|OCA2_ENST00000382996.2_Silent_p.G245G NM_000275.2 NP_000266.2 Q04671 P_HUMAN oculocutaneous albinism II 245 eye pigment biosynthetic process endoplasmic reticulum membrane|endosome membrane|integral to membrane|lysosomal membrane|melanosome membrane arsenite transmembrane transporter activity|citrate transmembrane transporter activity|L-tyrosine transmembrane transporter activity|protein binding NS(1)|breast(1)|central_nervous_system(1)|endometrium(7)|kidney(3)|large_intestine(11)|lung(48)|ovary(4)|pancreas(1)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 85 all_lung(180;2.93e-12)|Breast(32;0.000315)|Colorectal(260;0.234) all cancers(64;5.03e-07)|Epithelial(43;2.13e-06)|BRCA - Breast invasive adenocarcinoma(123;0.045) GCTCTTCCCTCCCAGGACGAC 0.612000 Oculocutaneous Albinism 4 27 0 0 1 0 0 ABCA12 26154 broad.mit.edu 37 2 215823032 215823032 + Missense_Mutation SNP C C A TCGA-S9-A7IS-01A-11D-A34A-08 TCGA-S9-A7IS-10A-01D-A34A-08 Untested Somatic Phase_I WXS none Illumina GAIIx fd7e72c6-76b7-4a02-88c6-3758b6236763 55d139ea-5e3d-418f-aaa1-e4f54b9f82c1 g.chr2:215823032C>A ENST00000272895.7 - 41 6305 c.6086G>T c.(6085-6087)tGc>tTc p.C2029F ABCA12_ENST00000389661.4_Missense_Mutation_p.C1711F|AC072062.1_ENST00000607412.1_RNA NM_173076.2 NP_775099.2 Q86UK0 ABCAC_HUMAN ATP-binding cassette, sub-family A (ABC1), member 12 2029 cellular homeostasis|lipid transport integral to membrane ATP binding|ATPase activity NS(3)|breast(5)|central_nervous_system(2)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(45)|lung(44)|ovary(8)|pancreas(2)|prostate(4)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1) 139 Renal(323;0.127) Epithelial(149;1.01e-05)|all cancers(144;0.00112)|LUSC - Lung squamous cell carcinoma(224;0.00829)|Lung(261;0.011) TACCCAGTAGCATGTCACGCC 0.418000 5 106 8.12818e-05 8.23953e-05 1 1 0 RET 5979 broad.mit.edu 37 10 43604537 43604537 + Silent SNP G G A TCGA-S9-A7IS-01A-11D-A34A-08 TCGA-S9-A7IS-10A-01D-A34A-08 Untested Somatic Phase_I WXS none Illumina GAIIx fd7e72c6-76b7-4a02-88c6-3758b6236763 55d139ea-5e3d-418f-aaa1-e4f54b9f82c1 g.chr10:43604537G>A ENST00000355710.3 + 6 1354 c.1122G>A c.(1120-1122)gtG>gtA p.V374V RET_ENST00000340058.5_Silent_p.V374V NM_020975.4 NP_066124.1 P07949 RET_HUMAN ret proto-oncogene 374 homophilic cell adhesion|positive regulation of metanephric glomerulus development|positive regulation of transcription, DNA-dependent|posterior midgut development integral to membrane ATP binding|calcium ion binding|transmembrane receptor protein tyrosine kinase activity CCDC6/RET(4)|KIF5B/RET(79) NS(2)|adrenal_gland(26)|breast(5)|central_nervous_system(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(7)|kidney(2)|large_intestine(14)|lung(27)|ovary(5)|prostate(3)|skin(1)|thyroid(504)|upper_aerodigestive_tract(1)|urinary_tract(1) 607 Ovarian(717;0.0423) Sunitinib(DB01268) AGCTGGCGGTGCTGGTCAATG 0.622000 1 """T, Mis, N, F""" """H4, PRKAR1A, NCOA4, PCM1, GOLGA5, TRIM33, KTN1, TRIM27, HOOK3, KIF5B, CCDC6""" """medullary thyroid, papillary thyroid, pheochromocytoma, NSCLC""" """medullary thyroid, papillary thyroid, pheochromocytoma""" Hirschsprung disease Multiple Endocrine Neoplasia, type 2B;Multiple Endocrine Neoplasia, type 2A;Familial Medullary Thyroid Carcinoma 23 38 0 0 1 0 0 SLC9C2 284525 broad.mit.edu 37 1 173526626 173526626 + Silent SNP C C G TCGA-S9-A7IS-01A-11D-A34A-08 TCGA-S9-A7IS-10A-01D-A34A-08 Untested Somatic Phase_I WXS none Illumina GAIIx fd7e72c6-76b7-4a02-88c6-3758b6236763 55d139ea-5e3d-418f-aaa1-e4f54b9f82c1 g.chr1:173526626C>G ENST00000367714.3 - 10 1490 c.1068G>C c.(1066-1068)gtG>gtC p.V356V SLC9C2_ENST00000466087.1_5'UTR|SLC9C2_ENST00000536496.1_Silent_p.V254V|RP3-436N22.3_ENST00000431459.1_RNA NM_178527.3 NP_848622.2 Q5TAH2 S9A11_HUMAN solute carrier family 9, member C2 (putative) 356 sodium ion transport integral to membrane ion channel activity|solute:hydrogen antiporter activity AAATAGGGCTCACTAACAAAA 0.333000 7 162 0 0 1 0 0 LILRA4 23547 broad.mit.edu 37 19 54849448 54849448 + Silent SNP G G A rs138743259 byFrequency TCGA-S9-A7IS-01A-11D-A34A-08 TCGA-S9-A7IS-10A-01D-A34A-08 Untested Somatic Phase_I WXS none Illumina GAIIx fd7e72c6-76b7-4a02-88c6-3758b6236763 55d139ea-5e3d-418f-aaa1-e4f54b9f82c1 g.chr19:54849448G>A ENST00000291759.4 - 4 470 c.414C>T c.(412-414)aaC>aaT p.N138N NM_012276.3 NP_036408.3 P59901 LIRA4_HUMAN leukocyte immunoglobulin-like receptor, subfamily A (with TM domain), member 4 138 Ig-like C2-type 2. integral to membrane receptor activity NS(2)|breast(1)|central_nervous_system(2)|endometrium(2)|large_intestine(5)|lung(13)|prostate(3)|skin(1)|upper_aerodigestive_tract(3) 32 Ovarian(34;0.19) GBM - Glioblastoma multiforme(193;0.0565) GGAGGGTCACGTTCACTCCTG 0.572000 18 37 0 0 1 0 0 NPAP1 23742 broad.mit.edu 37 15 24921057 24921057 + Missense_Mutation SNP C C T TCGA-S9-A7IS-01A-11D-A34A-08 TCGA-S9-A7IS-10A-01D-A34A-08 Untested Somatic Phase_I WXS none Illumina GAIIx fd7e72c6-76b7-4a02-88c6-3758b6236763 55d139ea-5e3d-418f-aaa1-e4f54b9f82c1 g.chr15:24921057C>T ENST00000329468.2 + 1 517 c.43C>T c.(43-45)Cgg>Tgg p.R15W NM_018958.2 NP_061831.2 nuclear pore associated protein 1 GTGCCGCCGCCGGCCCCTGCC 0.662000 6 11 0 0 1 0 0 HBG2 3048 broad.mit.edu 37 11 5275635 5275635 + Missense_Mutation SNP C C A TCGA-S9-A7IS-01A-11D-A34A-08 TCGA-S9-A7IS-10A-01D-A34A-08 Untested Somatic Phase_I WXS none Illumina GAIIx fd7e72c6-76b7-4a02-88c6-3758b6236763 55d139ea-5e3d-418f-aaa1-e4f54b9f82c1 g.chr11:5275635C>A ENST00000380259.2 - 7 1442 c.202G>T c.(202-204)Gtg>Ttg p.V68L HBG2_ENST00000336906.4_Missense_Mutation_p.V68L|HBG2_ENST00000380252.1_Missense_Mutation_p.V58L hemoglobin, gamma G endometrium(1)|large_intestine(2)|lung(7)|prostate(1)|skin(2) 13 Medulloblastoma(188;0.00225)|Breast(177;0.0155)|all_neural(188;0.0212) Epithelial(150;2.76e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135) GAAGTCAGCACCTTCTTGCCA 0.537000 55 122 1.07796e-43 1.19058e-43 1 1 0 PDGFRA 5156 broad.mit.edu 37 4 55131143 55131143 + Missense_Mutation SNP A A T TCGA-S9-A7IS-01A-11D-A34A-08 TCGA-S9-A7IS-10A-01D-A34A-08 Untested Somatic Phase_I WXS none Illumina GAIIx fd7e72c6-76b7-4a02-88c6-3758b6236763 55d139ea-5e3d-418f-aaa1-e4f54b9f82c1 g.chr4:55131143A>T ENST00000257290.5 + 5 1017 c.686A>T c.(685-687)gAa>gTa p.E229V PDGFRA_ENST00000508170.1_3'UTR|FIP1L1_ENST00000507166.1_Intron NM_006206.4 NP_006197.1 P16234 PGFRA_HUMAN platelet-derived growth factor receptor, alpha polypeptide 229 Ig-like C2-type 3. cardiac myofibril assembly|cell activation|luteinization|metanephric glomerular capillary formation|peptidyl-tyrosine phosphorylation|positive regulation of cell migration|positive regulation of DNA replication|positive regulation of fibroblast proliferation|protein autophosphorylation|retina vasculature development in camera-type eye cytoplasm|integral to plasma membrane|nucleus ATP binding|platelet-derived growth factor alpha-receptor activity|platelet-derived growth factor binding|platelet-derived growth factor receptor binding|protein homodimerization activity|vascular endothelial growth factor receptor activity NS(1)|autonomic_ganglia(1)|bone(1)|breast(4)|central_nervous_system(17)|cervix(1)|endometrium(4)|eye(1)|gastrointestinal_tract_(site_indeterminate)(1)|haematopoietic_and_lymphoid_tissue(22)|kidney(6)|large_intestine(26)|liver(4)|lung(48)|ovary(4)|prostate(6)|skin(11)|small_intestine(49)|soft_tissue(727)|stomach(32)|urinary_tract(1) 967 all_cancers(7;0.000425)|all_lung(4;0.000343)|Lung NSC(11;0.000467)|all_epithelial(27;0.0131)|all_neural(26;0.0209)|Glioma(25;0.08) GBM - Glioblastoma multiforme(1;4.18e-71)|all cancers(1;4.76e-45)|LUSC - Lung squamous cell carcinoma(32;0.00256) Becaplermin(DB00102)|Imatinib(DB00619)|Sunitinib(DB01268) AAGTCAGGGGAAACGATTGTG 0.428000 """Mis, O, T""" FIP1L1 """GIST, idiopathic hypereosinophilic syndrome, paediatric GBM""" Gastrointestinal Stromal Tumors, Sporadic Multiple Primary;Familial Intestinal Neurofibromatosis TSP Lung(21;0.16) 1046 792 0 0 1 0 0 SLC45A4 57210 broad.mit.edu 37 8 142228943 142228943 + Missense_Mutation SNP C C T rs139911158 byFrequency TCGA-S9-A7IS-01A-11D-A34A-08 TCGA-S9-A7IS-10A-01D-A34A-08 Untested Somatic Phase_I WXS none Illumina GAIIx fd7e72c6-76b7-4a02-88c6-3758b6236763 55d139ea-5e3d-418f-aaa1-e4f54b9f82c1 g.chr8:142228943C>T ENST00000519067.1 - 4 946 c.643G>A c.(643-645)Gct>Act p.A215T SLC45A4_ENST00000517878.1_Missense_Mutation_p.A266T|SLC45A4_ENST00000024061.3_Missense_Mutation_p.A215T|SLC45A4_ENST00000433583.2_Missense_Mutation_p.A208T Q5BKX6 S45A4_HUMAN solute carrier family 45, member 4 266 transport integral to membrane breast(1)|central_nervous_system(1)|endometrium(5)|kidney(2)|large_intestine(6)|lung(9)|ovary(3)|prostate(2)|skin(1)|upper_aerodigestive_tract(1) 31 all_cancers(97;1.52e-15)|all_epithelial(106;2.92e-14)|Lung NSC(106;1.23e-05)|all_lung(105;1.75e-05)|Ovarian(258;0.01)|Acute lymphoblastic leukemia(118;0.155) BRCA - Breast invasive adenocarcinoma(115;0.0493) GGCTCCTCAGCGCTGCGCTCC 0.672000 55 61 0 0 1 0 0 CHD9 80205 broad.mit.edu 37 16 53288443 53288443 + Nonsense_Mutation SNP C C T TCGA-S9-A7IS-01A-11D-A34A-08 TCGA-S9-A7IS-10A-01D-A34A-08 Untested Somatic Phase_I WXS none Illumina GAIIx fd7e72c6-76b7-4a02-88c6-3758b6236763 55d139ea-5e3d-418f-aaa1-e4f54b9f82c1 g.chr16:53288443C>T ENST00000566029.1 + 18 4164 c.3955C>T c.(3955-3957)Cga>Tga p.R1319* CHD9_ENST00000564845.1_Nonsense_Mutation_p.R1319*|CHD9_ENST00000398510.3_Nonsense_Mutation_p.R1319*|CHD9_ENST00000447540.1_Nonsense_Mutation_p.R1319* Q3L8U1 CHD9_HUMAN chromodomain helicase DNA binding protein 9 1319 Helicase C-terminal. cellular lipid metabolic process|chromatin modification|regulation of transcription, DNA-dependent|transcription, DNA-dependent cytoplasm|nucleoplasm ATP binding|DNA binding|helicase activity|protein binding NS(1)|breast(4)|central_nervous_system(1)|endometrium(5)|kidney(6)|large_intestine(21)|lung(32)|ovary(2)|prostate(2)|skin(2)|stomach(1)|urinary_tract(1) 78 all_cancers(37;0.0212) GATGTTTGACCGAGCCAGTTT 0.413000 13 143 0 0 1 0 0 RNF113A 7737 broad.mit.edu 37 X 119004589 119004589 + Missense_Mutation SNP C C T TCGA-S9-A7IS-01A-11D-A34A-08 TCGA-S9-A7IS-10A-01D-A34A-08 Untested Somatic Phase_I WXS none Illumina GAIIx fd7e72c6-76b7-4a02-88c6-3758b6236763 55d139ea-5e3d-418f-aaa1-e4f54b9f82c1 g.chrX:119004589C>T ENST00000371442.2 - 1 1202 c.988G>A c.(988-990)Gac>Aac p.D330N NM_006978.2 NP_008909.1 O15541 R113A_HUMAN ring finger protein 113A 330 nucleic acid binding|zinc ion binding NS(1)|breast(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|lung(6) 15 TCTGGCAAGTCGGAAGCACCA 0.418000 94 150 0 0 1 0 0 DUSP1 1843 broad.mit.edu 37 5 172195811 172195811 + Missense_Mutation SNP G G A rs150141714 byFrequency TCGA-S9-A7IS-01A-11D-A34A-08 TCGA-S9-A7IS-10A-01D-A34A-08 Untested Somatic Phase_I WXS none Illumina GAIIx fd7e72c6-76b7-4a02-88c6-3758b6236763 55d139ea-5e3d-418f-aaa1-e4f54b9f82c1 g.chr5:172195811G>A ENST00000239223.3 - 4 1300 c.1058C>T c.(1057-1059)gCg>gTg p.A353V RP11-779O18.3_ENST00000523005.1_RNA NM_004417.3 NP_004408.1 P28562 DUS1_HUMAN dual specificity phosphatase 1 353 Tyrosine-protein phosphatase. cell cycle|endoderm formation|inactivation of MAPK activity nucleoplasm MAP kinase tyrosine/serine/threonine phosphatase activity|non-membrane spanning protein tyrosine phosphatase activity|protein binding NS(1)|breast(2)|endometrium(1)|large_intestine(1)|liver(1)|ovary(2)|skin(1)|upper_aerodigestive_tract(1) 10 Renal(175;0.000159)|Lung NSC(126;0.00431)|all_lung(126;0.00729) all_hematologic(541;4.11e-18)|Breast(839;0.00637)|Medulloblastoma(196;0.0208)|all_neural(177;0.0416)|Ovarian(839;0.15) Kidney(164;7.24e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000516) GBM - Glioblastoma multiforme(465;0.0103) GTAGCTCAGCGCACTGTTCGT 0.617000 33 37 0 0 1 0 0 CHST11 50515 broad.mit.edu 37 12 105151332 105151332 + Silent SNP C C T TCGA-S9-A7IS-01A-11D-A34A-08 TCGA-S9-A7IS-10A-01D-A34A-08 Untested Somatic Phase_I WXS none Illumina GAIIx fd7e72c6-76b7-4a02-88c6-3758b6236763 55d139ea-5e3d-418f-aaa1-e4f54b9f82c1 g.chr12:105151332C>T ENST00000303694.5 + 3 1249 c.810C>T c.(808-810)caC>caT p.H270H CHST11_ENST00000549260.1_Silent_p.H265H NM_018413.5 NP_060883.1 Q9NPF2 CHSTB_HUMAN carbohydrate (chondroitin 4) sulfotransferase 11 270 chondroitin sulfate biosynthetic process Golgi membrane|integral to membrane chondroitin 4-sulfotransferase activity|N-acetylgalactosamine 4-O-sulfotransferase activity breast(2)|endometrium(2)|large_intestine(4)|lung(6)|ovary(1)|prostate(2)|skin(1) 18 ATCCCTGCCACATCCACTATG 0.557000 11 15 0 0 1 0 0 IDH1 3417 broad.mit.edu 37 2 209113112 209113112 + Missense_Mutation SNP C C T rs121913500 TCGA-S9-A7IS-01A-11D-A34A-08 TCGA-S9-A7IS-10A-01D-A34A-08 Untested Somatic Phase_I WXS none Illumina GAIIx fd7e72c6-76b7-4a02-88c6-3758b6236763 55d139ea-5e3d-418f-aaa1-e4f54b9f82c1 g.chr2:209113112C>T ENST00000415913.1 - 4 776 c.395G>A c.(394-396)cGt>cAt p.R132H IDH1_ENST00000345146.2_Missense_Mutation_p.R132H|IDH1_ENST00000446179.1_Missense_Mutation_p.R132H O75874 IDHC_HUMAN isocitrate dehydrogenase 1 (NADP+), soluble 132 R -> C (in colorectal cancer and glioma samples; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha- ketoglutarate but instead alpha- ketoglutarate is converted to R(-)-2- hydroxyglutarate).|R -> G (in a glioma sample; glioblastoma multiforme; somatic mutation).|R -> H (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate).|R -> L (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate).|R -> S (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate). 2-oxoglutarate metabolic process|cellular lipid metabolic process|glyoxylate cycle|isocitrate metabolic process|NADPH regeneration|tricarboxylic acid cycle cytosol|peroxisomal matrix isocitrate dehydrogenase (NADP+) activity|magnesium ion binding|NAD binding|protein homodimerization activity p.R132H(2774)|p.R132L(59)|p.R132V(1)|p.G131_R132>VL(1) NS(1)|autonomic_ganglia(2)|biliary_tract(24)|bone(237)|central_nervous_system(3764)|endometrium(3)|haematopoietic_and_lymphoid_tissue(794)|kidney(2)|large_intestine(7)|lung(7)|prostate(6)|skin(5)|soft_tissue(12)|thyroid(22)|urinary_tract(1) 4887 Epithelial(149;0.0322)|LUSC - Lung squamous cell carcinoma(261;0.0711)|Lung(261;0.136) ATAAGCATGACGACCTATGAT 0.393000 Mis gliobastoma 39 61 0 0 1 0 0 PDE6B 5158 broad.mit.edu 37 4 658001 658001 + Missense_Mutation SNP A A T TCGA-S9-A7IS-01A-11D-A34A-08 TCGA-S9-A7IS-10A-01D-A34A-08 Untested Somatic Phase_I WXS none Illumina GAIIx fd7e72c6-76b7-4a02-88c6-3758b6236763 55d139ea-5e3d-418f-aaa1-e4f54b9f82c1 g.chr4:658001A>T ENST00000255622.6 + 17 2163 c.2120A>T c.(2119-2121)gAg>gTg p.E707V PDE6B_ENST00000496514.1_Missense_Mutation_p.E707V|PDE6B_ENST00000429163.2_Missense_Mutation_p.E428V NM_000283.3|NM_001145291.1 NP_000274.2|NP_001138763.1 P35913 PDE6B_HUMAN phosphodiesterase 6B, cGMP-specific, rod, beta 707 cytosolic calcium ion homeostasis|GMP metabolic process|phototransduction, visible light|platelet activation|visual perception cytosol|membrane 3',5'-cyclic-GMP phosphodiesterase activity|metal ion binding NS(1)|breast(3)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(5)|lung(11)|ovary(2)|prostate(2)|urinary_tract(1) 30 ACCCGGAAGGAGATCGTCATG 0.617000 31 33 0 0 1 0 0 SYNCRIP 10492 broad.mit.edu 37 6 86324886 86324886 + Missense_Mutation SNP C C G TCGA-S9-A7IS-01A-11D-A34A-08 TCGA-S9-A7IS-10A-01D-A34A-08 Untested Somatic Phase_I WXS none Illumina GAIIx fd7e72c6-76b7-4a02-88c6-3758b6236763 55d139ea-5e3d-418f-aaa1-e4f54b9f82c1 g.chr6:86324886C>G ENST00000355238.6 - 11 1666 c.1460G>C c.(1459-1461)gGt>gCt p.G487A SYNCRIP_ENST00000369622.3_Missense_Mutation_p.G487A|RP11-321N4.5_ENST00000503906.1_Missense_Mutation_p.V23L NM_001159673.1|NM_001159674.1|NM_001159676.1|NM_001159677.1|NM_001253771.1 NP_001153145.1|NP_001153146.1|NP_001153148.1|NP_001153149.1|NP_001240700.1 O60506 HNRPQ_HUMAN synaptotagmin binding, cytoplasmic RNA interacting protein 487 3 X 4 AA repeats of Y-Y-G-Y.|8 X 3 AA repeats of R-G-G.|Interaction with APOBEC1. CRD-mediated mRNA stabilization|interspecies interaction between organisms catalytic step 2 spliceosome|CRD-mediated mRNA stability complex|endoplasmic reticulum|histone pre-mRNA 3'end processing complex|microsome|nucleoplasm nucleotide binding|protein binding autonomic_ganglia(1)|breast(2)|central_nervous_system(4)|endometrium(3)|kidney(2)|large_intestine(5)|liver(1)|lung(10)|ovary(2)|skin(2)|upper_aerodigestive_tract(1) 33 all_cancers(76;0.000137)|Acute lymphoblastic leukemia(125;3.66e-08)|Prostate(29;8.2e-07)|all_hematologic(105;8.61e-05)|all_epithelial(107;0.0297) BRCA - Breast invasive adenocarcinoma(108;0.0389) ATCTTCATAACCATAGTATGG 0.438000 15 29 0 0 1 0 0 TNS4 84951 broad.mit.edu 37 17 38635967 38635967 + Silent SNP T T C TCGA-S9-A7IS-01A-11D-A34A-08 TCGA-S9-A7IS-10A-01D-A34A-08 Untested Somatic Phase_I WXS none Illumina GAIIx fd7e72c6-76b7-4a02-88c6-3758b6236763 55d139ea-5e3d-418f-aaa1-e4f54b9f82c1 g.chr17:38635967T>C ENST00000254051.6 - 10 2027 c.1869A>G c.(1867-1869)aaA>aaG p.K623K NM_032865.5 NP_116254.4 Q8IZW8 TENS4_HUMAN tensin 4 623 Phosphatase tensin-type. K -> E (in Ref. 1; AAN32666 and 3; BAB55413). apoptosis|protein localization cytoplasm|cytoskeleton|focal adhesion actin binding NS(2)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(3)|ovary(2)|prostate(2)|skin(10)|upper_aerodigestive_tract(1) 30 Breast(137;0.000496) STAD - Stomach adenocarcinoma(5;5.91e-05) GCTCTGTGACTTTGAAGTGGA 0.617000 3 67 0 0 1 0 0 FAT1 2195 broad.mit.edu 37 4 187540255 187540255 + Silent SNP G G A TCGA-S9-A7IS-01A-11D-A34A-08 TCGA-S9-A7IS-10A-01D-A34A-08 Untested Somatic Phase_I WXS none Illumina GAIIx fd7e72c6-76b7-4a02-88c6-3758b6236763 55d139ea-5e3d-418f-aaa1-e4f54b9f82c1 g.chr4:187540255G>A ENST00000441802.2 - 10 7694 c.7485C>T c.(7483-7485)aaC>aaT p.N2495N NM_005245.3 NP_005236.2 Q14517 FAT1_HUMAN FAT atypical cadherin 1 2495 Cadherin 23. actin filament organization|anatomical structure morphogenesis|cell migration|cell-cell signaling|establishment or maintenance of cell polarity|homophilic cell adhesion cell-cell junction|integral to plasma membrane|nucleus|perinuclear region of cytoplasm calcium ion binding|protein binding NS(1)|breast(3)|central_nervous_system(3)|endometrium(38)|haematopoietic_and_lymphoid_tissue(2)|kidney(12)|large_intestine(33)|lung(88)|ovary(13)|pancreas(2)|prostate(16)|skin(2)|upper_aerodigestive_tract(11)|urinary_tract(4) 228 CTTCATATTCGTTCTGAAGGA 0.443000 HNSCC(5;0.00058) 116 39 0 0 1 0 0 GABRG3 2567 broad.mit.edu 37 15 27772702 27772702 + Missense_Mutation SNP C C T TCGA-S9-A7IS-01A-11D-A34A-08 TCGA-S9-A7IS-10A-01D-A34A-08 Untested Somatic Phase_I WXS none Illumina GAIIx fd7e72c6-76b7-4a02-88c6-3758b6236763 55d139ea-5e3d-418f-aaa1-e4f54b9f82c1 g.chr15:27772702C>T ENST00000333743.6 + 8 1243 c.989C>T c.(988-990)gCg>gTg p.A330V RP11-100M12.3_ENST00000556642.1_RNA NM_033223.4 NP_150092.2 Q99928 GBRG3_HUMAN gamma-aminobutyric acid (GABA) A receptor, gamma 3 330 gamma-aminobutyric acid signaling pathway|synaptic transmission cell junction|chloride channel complex|postsynaptic membrane chloride channel activity|extracellular ligand-gated ion channel activity p.A330V(1) breast(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(23)|skin(1)|upper_aerodigestive_tract(4) 42 all_lung(180;4.58e-12)|Breast(32;0.000625)|Colorectal(260;0.235) all cancers(64;3.15e-07)|Epithelial(43;1.17e-06)|BRCA - Breast invasive adenocarcinoma(123;0.0261) GTCTTCGCCGCGCTGATGGAG 0.547000 19 14 0 0 1 0 0 MYO10 4651 broad.mit.edu 37 5 16684040 16684040 + Missense_Mutation SNP G G A TCGA-S9-A7IS-01A-11D-A34A-08 TCGA-S9-A7IS-10A-01D-A34A-08 Untested Somatic Phase_I WXS none Illumina GAIIx fd7e72c6-76b7-4a02-88c6-3758b6236763 55d139ea-5e3d-418f-aaa1-e4f54b9f82c1 g.chr5:16684040G>A ENST00000513610.1 - 30 4449 c.3995C>T c.(3994-3996)aCc>aTc p.T1332I MYO10_ENST00000427430.2_Missense_Mutation_p.T689I|MYO10_ENST00000515803.1_Missense_Mutation_p.T671I|MYO10_ENST00000505695.1_Missense_Mutation_p.T671I|MYO10_ENST00000274203.9_Missense_Mutation_p.T689I NM_012334.2 NP_036466.2 Q9HD67 MYO10_HUMAN myosin X 1332 axon guidance|signal transduction myosin complex actin binding|ATP binding|motor activity NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(11)|large_intestine(19)|lung(28)|ovary(2)|pancreas(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2) 86 CACATCCAAGGTGCCCTGGAA 0.463000 11 13 0 0 1 0 0 FREM2 341640 broad.mit.edu 37 13 39263024 39263024 + Missense_Mutation SNP G G A TCGA-S9-A7IS-01A-11D-A34A-08 TCGA-S9-A7IS-10A-01D-A34A-08 Untested Somatic Phase_I WXS none Illumina GAIIx fd7e72c6-76b7-4a02-88c6-3758b6236763 55d139ea-5e3d-418f-aaa1-e4f54b9f82c1 g.chr13:39263024G>A ENST00000280481.7 + 1 1759 c.1543G>A c.(1543-1545)Ggc>Agc p.G515S NM_207361.4 NP_997244.3 Q5SZK8 FREM2_HUMAN FRAS1 related extracellular matrix protein 2 515 cell communication|homophilic cell adhesion|multicellular organismal development integral to membrane|plasma membrane calcium ion binding NS(1)|breast(2)|central_nervous_system(2)|cervix(1)|endometrium(14)|haematopoietic_and_lymphoid_tissue(3)|kidney(8)|large_intestine(35)|lung(39)|ovary(9)|pancreas(2)|prostate(12)|skin(11)|upper_aerodigestive_tract(7)|urinary_tract(2) 148 Lung NSC(96;1.04e-07)|Prostate(109;0.00384)|Breast(139;0.00396)|Lung SC(185;0.0565)|Hepatocellular(188;0.114) all cancers(112;3.32e-07)|Epithelial(112;1.66e-05)|OV - Ovarian serous cystadenocarcinoma(117;0.00154)|BRCA - Breast invasive adenocarcinoma(63;0.00631)|GBM - Glioblastoma multiforme(144;0.0312) GCTGGCAGCCGGCCAGGTGGT 0.602000 4 8 0 0 1 0 0 OR2T4 127074 broad.mit.edu 37 1 248525411 248525411 + Missense_Mutation SNP T T C TCGA-S9-A7IS-01A-11D-A34A-08 TCGA-S9-A7IS-10A-01D-A34A-08 Untested Somatic Phase_I WXS none Illumina GAIIx fd7e72c6-76b7-4a02-88c6-3758b6236763 55d139ea-5e3d-418f-aaa1-e4f54b9f82c1 g.chr1:248525411T>C ENST00000366475.1 + 1 529 c.529T>C c.(529-531)Tca>Cca p.S177P NM_001004696.1 NP_001004696.1 Q8NH00 OR2T4_HUMAN olfactory receptor, family 2, subfamily T, member 4 177 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(3)|liver(2)|lung(47) 56 all_cancers(71;0.000108)|all_epithelial(71;1.03e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136) OV - Ovarian serous cystadenocarcinoma(106;0.0265) TCTCTTCCTGTCATCAGGCTG 0.532000 77 108 0 0 1 0 0 SCN10A 6336 broad.mit.edu 37 3 38739124 38739124 + Missense_Mutation SNP G G A TCGA-S9-A7IS-01A-11D-A34A-08 TCGA-S9-A7IS-10A-01D-A34A-08 Untested Somatic Phase_I WXS none Illumina GAIIx fd7e72c6-76b7-4a02-88c6-3758b6236763 55d139ea-5e3d-418f-aaa1-e4f54b9f82c1 g.chr3:38739124G>A ENST00000449082.2 - 27 5586 c.5587C>T c.(5587-5589)Cgg>Tgg p.R1863W NM_006514.2 NP_006505.2 Q9Y5Y9 SCNAA_HUMAN sodium channel, voltage-gated, type X, alpha subunit 1863 IQ. sensory perception voltage-gated sodium channel complex p.R1863W(1) NS(5)|breast(2)|central_nervous_system(3)|cervix(1)|endometrium(14)|kidney(5)|large_intestine(33)|lung(54)|ovary(5)|pancreas(1)|prostate(5)|skin(13)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(1) 150 KIRC - Kidney renal clear cell carcinoma(284;0.0769)|Kidney(284;0.0945) Benzocaine(DB01086)|Bupivacaine(DB00297)|Chloroprocaine(DB01161)|Cocaine(DB00907)|Dibucaine(DB00527)|Dyclonine(DB00645)|Hexylcaine(DB00473)|Levobupivacaine(DB01002)|Lidocaine(DB00281)|Mepivacaine(DB00961)|Oxybuprocaine(DB00892)|Procaine(DB00721)|Proparacaine(DB00807)|Ropivacaine(DB00296) ACATAGCTCCGATAGGCCTTT 0.488000 30 41 0 0 1 0 0 FAT3 120114 broad.mit.edu 37 11 92535041 92535041 + Silent SNP C C T TCGA-S9-A7IS-01A-11D-A34A-08 TCGA-S9-A7IS-10A-01D-A34A-08 Untested Somatic Phase_I WXS none Illumina GAIIx fd7e72c6-76b7-4a02-88c6-3758b6236763 55d139ea-5e3d-418f-aaa1-e4f54b9f82c1 g.chr11:92535041C>T ENST00000298047.6 + 9 8879 c.8862C>T c.(8860-8862)tcC>tcT p.S2954S FAT3_ENST00000525166.1_Silent_p.S2804S|FAT3_ENST00000409404.2_Silent_p.S2954S Q8TDW7 FAT3_HUMAN FAT atypical cadherin 3 2954 Cadherin 27. homophilic cell adhesion|multicellular organismal development integral to membrane|plasma membrane calcium ion binding NS(1)|breast(2)|endometrium(10)|kidney(4)|large_intestine(11)|liver(2)|lung(37)|ovary(5)|pancreas(1)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(5) 85 Acute lymphoblastic leukemia(157;3.01e-05)|all_hematologic(158;0.00858) GAGACACATCCGACGTTAATC 0.527000 TCGA Ovarian(4;0.039) 21 28 0 0 1 0 0 XIST 0 broad.mit.edu 37 X 73061471 73061471 + RNA SNP C C A TCGA-S9-A7IS-01A-11D-A34A-08 TCGA-S9-A7IS-10A-01D-A34A-08 Untested Somatic Phase_I WXS none Illumina GAIIx fd7e72c6-76b7-4a02-88c6-3758b6236763 55d139ea-5e3d-418f-aaa1-e4f54b9f82c1 g.chrX:73061471C>A ENST00000429829.1 - 0 11117 NR_001564.2 AGCTATCTCACTGTTGAAATT 0.348000 3 38 6.4e-05 6.57778e-05 1 1 0 MNDA 4332 broad.mit.edu 37 1 158815755 158815755 + Missense_Mutation SNP T T C TCGA-S9-A7IS-01A-11D-A34A-08 TCGA-S9-A7IS-10A-01D-A34A-08 Untested Somatic Phase_I WXS none Illumina GAIIx fd7e72c6-76b7-4a02-88c6-3758b6236763 55d139ea-5e3d-418f-aaa1-e4f54b9f82c1 g.chr1:158815755T>C ENST00000368141.4 + 5 1210 c.949T>C c.(949-951)Tct>Cct p.S317P NM_002432.1 NP_002423.1 P41218 MNDA_HUMAN myeloid cell nuclear differentiation antigen 317 HIN-200. B cell receptor signaling pathway|cellular defense response|negative regulation of B cell proliferation|positive regulation of apoptosis|regulation of transcription, DNA-dependent|response to DNA damage stimulus|transcription, DNA-dependent cytoplasm|nucleus DNA binding NS(2)|breast(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|liver(1)|lung(26)|ovary(2)|prostate(4)|skin(3)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1) 65 all_hematologic(112;0.0378) CAAGCAAGCATCTGGAACAAT 0.318000 40 68 0 0 1 0 0 SEL1L2 80343 broad.mit.edu 37 20 13856732 13856732 + Silent SNP C C T TCGA-S9-A7IS-01A-11D-A34A-08 TCGA-S9-A7IS-10A-01D-A34A-08 Untested Somatic Phase_I WXS none Illumina GAIIx fd7e72c6-76b7-4a02-88c6-3758b6236763 55d139ea-5e3d-418f-aaa1-e4f54b9f82c1 g.chr20:13856732C>T ENST00000284951.5 - 12 1130 c.1056G>A c.(1054-1056)ccG>ccA p.P352P SEL1L2_ENST00000486903.1_5'UTR|SEL1L2_ENST00000378072.5_Silent_p.P352P Q5TEA6 SE1L2_HUMAN sel-1 suppressor of lin-12-like 2 (C. elegans) 352 integral to membrane binding p.P352P(1) cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(14)|lung(25)|ovary(2)|skin(3)|urinary_tract(1) 51 CGTTATTTTGCGGCACGGCAG 0.348000 45 72 0 0 1 0 0 PDGFRA 5156 broad.mit.edu 37 4 55131185 55131185 + Missense_Mutation SNP T T G TCGA-S9-A7IS-01A-11D-A34A-08 TCGA-S9-A7IS-10A-01D-A34A-08 Untested Somatic Phase_I WXS none Illumina GAIIx fd7e72c6-76b7-4a02-88c6-3758b6236763 55d139ea-5e3d-418f-aaa1-e4f54b9f82c1 g.chr4:55131185T>G ENST00000257290.5 + 5 1059 c.728T>G c.(727-729)gTt>gGt p.V243G PDGFRA_ENST00000508170.1_3'UTR|FIP1L1_ENST00000507166.1_Intron NM_006206.4 NP_006197.1 P16234 PGFRA_HUMAN platelet-derived growth factor receptor, alpha polypeptide 243 Ig-like C2-type 3. cardiac myofibril assembly|cell activation|luteinization|metanephric glomerular capillary formation|peptidyl-tyrosine phosphorylation|positive regulation of cell migration|positive regulation of DNA replication|positive regulation of fibroblast proliferation|protein autophosphorylation|retina vasculature development in camera-type eye cytoplasm|integral to plasma membrane|nucleus ATP binding|platelet-derived growth factor alpha-receptor activity|platelet-derived growth factor binding|platelet-derived growth factor receptor binding|protein homodimerization activity|vascular endothelial growth factor receptor activity NS(1)|autonomic_ganglia(1)|bone(1)|breast(4)|central_nervous_system(17)|cervix(1)|endometrium(4)|eye(1)|gastrointestinal_tract_(site_indeterminate)(1)|haematopoietic_and_lymphoid_tissue(22)|kidney(6)|large_intestine(26)|liver(4)|lung(48)|ovary(4)|prostate(6)|skin(11)|small_intestine(49)|soft_tissue(727)|stomach(32)|urinary_tract(1) 967 all_cancers(7;0.000425)|all_lung(4;0.000343)|Lung NSC(11;0.000467)|all_epithelial(27;0.0131)|all_neural(26;0.0209)|Glioma(25;0.08) GBM - Glioblastoma multiforme(1;4.18e-71)|all cancers(1;4.76e-45)|LUSC - Lung squamous cell carcinoma(32;0.00256) Becaplermin(DB00102)|Imatinib(DB00619)|Sunitinib(DB01268) AATGAGGTGGTTGACCTTCAA 0.473000 """Mis, O, T""" FIP1L1 """GIST, idiopathic hypereosinophilic syndrome, paediatric GBM""" Gastrointestinal Stromal Tumors, Sporadic Multiple Primary;Familial Intestinal Neurofibromatosis TSP Lung(21;0.16) 8 1428 0 0 1 0 0 CAMSAP1 157922 broad.mit.edu 37 9 138713204 138713204 + Silent SNP G G A TCGA-S9-A7IS-01A-11D-A34A-08 TCGA-S9-A7IS-10A-01D-A34A-08 Untested Somatic Phase_I WXS none Illumina GAIIx fd7e72c6-76b7-4a02-88c6-3758b6236763 55d139ea-5e3d-418f-aaa1-e4f54b9f82c1 g.chr9:138713204G>A ENST00000389532.4 - 11 3367 c.3303C>T c.(3301-3303)tcC>tcT p.S1101S CAMSAP1_ENST00000409386.3_Silent_p.S1112S|CAMSAP1_ENST00000312405.6_Silent_p.S823S|CAMSAP1_ENST00000483991.1_5'UTR NM_015447.3 NP_056262.3 Q5T5Y3 CAMP1_HUMAN calmodulin regulated spectrin-associated protein 1 1101 cytoplasm|microtubule breast(3)|central_nervous_system(2)|endometrium(6)|kidney(4)|large_intestine(11)|lung(16)|ovary(3)|pancreas(1)|skin(1) 47 OV - Ovarian serous cystadenocarcinoma(145;1.4e-06)|Epithelial(140;1.11e-05) CCGGCCTTCCGGAACGGGAAT 0.642000 20 30 0 0 1 0 0 PRF1 5551 broad.mit.edu 37 10 72358782 72358782 + Missense_Mutation SNP C C T TCGA-S9-A7IS-01A-11D-A34A-08 TCGA-S9-A7IS-10A-01D-A34A-08 Untested Somatic Phase_I WXS none Illumina GAIIx fd7e72c6-76b7-4a02-88c6-3758b6236763 55d139ea-5e3d-418f-aaa1-e4f54b9f82c1 g.chr10:72358782C>T ENST00000441259.1 - 3 855 c.695G>A c.(694-696)cGc>cAc p.R232H PRF1_ENST00000373209.2_Missense_Mutation_p.R232H NM_001083116.1|NM_005041.4 NP_001076585.1|NP_005032.2 P14222 PERF_HUMAN perforin 1 (pore forming protein) 232 MACPF. apoptosis|cellular defense response|cytolysis|defense response to tumor cell|defense response to virus|immune response to tumor cell|protein homooligomerization cytolytic granule|endosome lumen|extracellular region|integral to membrane|plasma membrane calcium ion binding|protein binding|wide pore channel activity breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(2)|lung(11)|ovary(1)|prostate(3)|urinary_tract(3) 23 GGCCGATATGCGGCCACCCAG 0.657000 M """various leukaemia, lymphoma""" Type 2 familial hemophagocytic lymphohistiocytosis Familial Hemophagocytic Lymphohistiocytosis 3 29 0 0 1 0 0 SCN10A 6336 broad.mit.edu 37 3 38812783 38812783 + Missense_Mutation SNP C C T TCGA-S9-A7IS-01A-11D-A34A-08 TCGA-S9-A7IS-10A-01D-A34A-08 Untested Somatic Phase_I WXS none Illumina GAIIx fd7e72c6-76b7-4a02-88c6-3758b6236763 55d139ea-5e3d-418f-aaa1-e4f54b9f82c1 g.chr3:38812783C>T ENST00000449082.2 - 4 585 c.586G>A c.(586-588)Gtc>Atc p.V196I NM_006514.2 NP_006505.2 Q9Y5Y9 SCNAA_HUMAN sodium channel, voltage-gated, type X, alpha subunit 196 sensory perception voltage-gated sodium channel complex p.V196I(1) NS(5)|breast(2)|central_nervous_system(3)|cervix(1)|endometrium(14)|kidney(5)|large_intestine(33)|lung(54)|ovary(5)|pancreas(1)|prostate(5)|skin(13)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(1) 150 KIRC - Kidney renal clear cell carcinoma(284;0.0769)|Kidney(284;0.0945) Benzocaine(DB01086)|Bupivacaine(DB00297)|Chloroprocaine(DB01161)|Cocaine(DB00907)|Dibucaine(DB00527)|Dyclonine(DB00645)|Hexylcaine(DB00473)|Levobupivacaine(DB01002)|Lidocaine(DB00281)|Mepivacaine(DB00961)|Oxybuprocaine(DB00892)|Procaine(DB00721)|Proparacaine(DB00807)|Ropivacaine(DB00296) AGGGTAATGACGCTAAAATCC 0.458000 4 92 0 0 1 0 0 PDGFRA 5156 broad.mit.edu 37 4 55131197 55131197 + Missense_Mutation SNP G G C TCGA-S9-A7IS-01A-11D-A34A-08 TCGA-S9-A7IS-10A-01D-A34A-08 Untested Somatic Phase_I WXS none Illumina GAIIx fd7e72c6-76b7-4a02-88c6-3758b6236763 55d139ea-5e3d-418f-aaa1-e4f54b9f82c1 g.chr4:55131197G>C ENST00000257290.5 + 5 1071 c.740G>C c.(739-741)tGg>tCg p.W247S PDGFRA_ENST00000508170.1_3'UTR|FIP1L1_ENST00000507166.1_Intron NM_006206.4 NP_006197.1 P16234 PGFRA_HUMAN platelet-derived growth factor receptor, alpha polypeptide 247 Ig-like C2-type 3. cardiac myofibril assembly|cell activation|luteinization|metanephric glomerular capillary formation|peptidyl-tyrosine phosphorylation|positive regulation of cell migration|positive regulation of DNA replication|positive regulation of fibroblast proliferation|protein autophosphorylation|retina vasculature development in camera-type eye cytoplasm|integral to plasma membrane|nucleus ATP binding|platelet-derived growth factor alpha-receptor activity|platelet-derived growth factor binding|platelet-derived growth factor receptor binding|protein homodimerization activity|vascular endothelial growth factor receptor activity NS(1)|autonomic_ganglia(1)|bone(1)|breast(4)|central_nervous_system(17)|cervix(1)|endometrium(4)|eye(1)|gastrointestinal_tract_(site_indeterminate)(1)|haematopoietic_and_lymphoid_tissue(22)|kidney(6)|large_intestine(26)|liver(4)|lung(48)|ovary(4)|prostate(6)|skin(11)|small_intestine(49)|soft_tissue(727)|stomach(32)|urinary_tract(1) 967 all_cancers(7;0.000425)|all_lung(4;0.000343)|Lung NSC(11;0.000467)|all_epithelial(27;0.0131)|all_neural(26;0.0209)|Glioma(25;0.08) GBM - Glioblastoma multiforme(1;4.18e-71)|all cancers(1;4.76e-45)|LUSC - Lung squamous cell carcinoma(32;0.00256) Becaplermin(DB00102)|Imatinib(DB00619)|Sunitinib(DB01268) GACCTTCAATGGACTTACCCT 0.478000 """Mis, O, T""" FIP1L1 """GIST, idiopathic hypereosinophilic syndrome, paediatric GBM""" Gastrointestinal Stromal Tumors, Sporadic Multiple Primary;Familial Intestinal Neurofibromatosis TSP Lung(21;0.16) 27 1263 0 0 1 0 0 PCF11 51585 broad.mit.edu 37 11 82877730 82877730 + Nonsense_Mutation SNP G G A TCGA-S9-A7IS-01A-11D-A34A-08 TCGA-S9-A7IS-10A-01D-A34A-08 Untested Somatic Phase_I WXS none Illumina GAIIx fd7e72c6-76b7-4a02-88c6-3758b6236763 55d139ea-5e3d-418f-aaa1-e4f54b9f82c1 g.chr11:82877730G>A ENST00000298281.4 + 5 2243 c.1791G>A c.(1789-1791)tgG>tgA p.W597* NM_015885.3 NP_056969.2 O94913 PCF11_HUMAN PCF11 cleavage and polyadenylation factor subunit 597 mRNA 3'-end processing|mRNA cleavage|nuclear mRNA splicing, via spliceosome|termination of RNA polymerase II transcription mRNA cleavage factor complex cervix(1)|endometrium(3)|kidney(4)|large_intestine(1)|lung(22)|ovary(1)|urinary_tract(1) 33 CCAAAAGATGGAAATCTGGTT 0.343000 29 48 0 0 1 0 0 EPHA7 2045 broad.mit.edu 37 6 93964444 93964444 + Missense_Mutation SNP T T C TCGA-S9-A7IS-01A-11D-A34A-08 TCGA-S9-A7IS-10A-01D-A34A-08 Untested Somatic Phase_I WXS none Illumina GAIIx fd7e72c6-76b7-4a02-88c6-3758b6236763 55d139ea-5e3d-418f-aaa1-e4f54b9f82c1 g.chr6:93964444T>C ENST00000369303.4 - 14 2637 c.2453A>G c.(2452-2454)gAt>gGt p.D818G NM_004440.3 NP_004431.1 Q15375 EPHA7_HUMAN EPH receptor A7 818 Protein kinase. integral to plasma membrane ATP binding|ephrin receptor activity NS(1)|breast(1)|central_nervous_system(7)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(16)|lung(43)|ovary(8)|pancreas(1)|prostate(1)|skin(8)|stomach(1)|upper_aerodigestive_tract(13)|urinary_tract(1) 112 all_cancers(76;7.47e-10)|Acute lymphoblastic leukemia(125;1.88e-09)|all_hematologic(75;1.75e-07)|all_epithelial(107;3.6e-05)|Lung NSC(302;0.0368)|all_lung(197;0.0509)|Colorectal(196;0.142) BRCA - Breast invasive adenocarcinoma(108;0.0847) GCTCCATACATCACTGGCTGA 0.383000 22 50 0 0 1 0 0 CD93 22918 broad.mit.edu 37 20 23065956 23065956 + Missense_Mutation SNP G G A TCGA-S9-A7IS-01A-11D-A34A-08 TCGA-S9-A7IS-10A-01D-A34A-08 Untested Somatic Phase_I WXS none Illumina GAIIx fd7e72c6-76b7-4a02-88c6-3758b6236763 55d139ea-5e3d-418f-aaa1-e4f54b9f82c1 g.chr20:23065956G>A ENST00000246006.4 - 1 1021 c.874C>T c.(874-876)Cgg>Tgg p.R292W NM_012072.3 NP_036204.2 Q9NPY3 C1QR1_HUMAN CD93 molecule 292 EGF-like 1. cell-cell adhesion|interspecies interaction between organisms|macrophage activation|phagocytosis plasma membrane calcium ion binding|complement component C1q binding|receptor activity|sugar binding p.R292G(1) NS(2)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(10)|lung(14)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1) 39 Colorectal(13;0.0352)|Lung NSC(19;0.0542)|all_lung(19;0.118) TCCAGCAGCCGGAATCCTGGT 0.627000 54 80 0 0 1 0 0 TLL1 7092 broad.mit.edu 37 4 166795174 166795174 + Missense_Mutation SNP A A G TCGA-S9-A7IS-01A-11D-A34A-08 TCGA-S9-A7IS-10A-01D-A34A-08 Untested Somatic Phase_I WXS none Illumina GAIIx fd7e72c6-76b7-4a02-88c6-3758b6236763 55d139ea-5e3d-418f-aaa1-e4f54b9f82c1 g.chr4:166795174A>G ENST00000061240.2 + 1 765 c.118A>G c.(118-120)Aac>Gac p.N40D TLL1_ENST00000513213.1_Missense_Mutation_p.N40D|TLL1_ENST00000507499.1_Missense_Mutation_p.N40D NM_012464.4 NP_036596.3 O43897 TLL1_HUMAN tolloid-like 1 40 cell differentiation|proteolysis|skeletal system development extracellular region calcium ion binding|metalloendopeptidase activity|zinc ion binding NS(1)|breast(1)|central_nervous_system(1)|endometrium(7)|kidney(4)|large_intestine(21)|lung(26)|ovary(2)|prostate(5)|skin(6)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 77 all_hematologic(180;0.221) Melanoma(52;0.0315)|Prostate(90;0.0405) GBM - Glioblastoma multiforme(119;0.103) TTTTGATGGGAACGAAGAGGA 0.572000 96 50 0 0 1 0 0 TMEM2 23670 broad.mit.edu 37 9 74355062 74355062 + Missense_Mutation SNP C C A TCGA-S9-A7IS-01A-11D-A34A-08 TCGA-S9-A7IS-10A-01D-A34A-08 Untested Somatic Phase_I WXS none Illumina GAIIx fd7e72c6-76b7-4a02-88c6-3758b6236763 55d139ea-5e3d-418f-aaa1-e4f54b9f82c1 g.chr9:74355062C>A ENST00000377044.4 - 5 1660 c.1121G>T c.(1120-1122)gGc>gTc p.G374V TMEM2_ENST00000377066.5_Missense_Mutation_p.G374V NM_001135820.1|NM_013390.2 NP_001129292.1|NP_037522.1 Q9UHN6 TMEM2_HUMAN transmembrane protein 2 374 integral to membrane central_nervous_system(1)|endometrium(6)|kidney(3)|large_intestine(15)|liver(1)|lung(19)|ovary(2)|prostate(5)|skin(1)|stomach(1)|urinary_tract(2) 56 all_epithelial(88;4.56e-14)|Myeloproliferative disorder(762;0.0255) GBM - Glioblastoma multiforme(74;7.45e-21)|OV - Ovarian serous cystadenocarcinoma(323;1.02e-16) AGCCTTCCCGCCACTGCTATG 0.433000 9 79 0.000274275 0.000274275 1 1 0 STAM 8027 broad.mit.edu 37 10 17756581 17756581 + Missense_Mutation SNP C C G TCGA-S9-A7IS-01A-11D-A34A-08 TCGA-S9-A7IS-10A-01D-A34A-08 Untested Somatic Phase_I WXS none Illumina GAIIx fd7e72c6-76b7-4a02-88c6-3758b6236763 55d139ea-5e3d-418f-aaa1-e4f54b9f82c1 g.chr10:17756581C>G ENST00000377524.3 + 14 1640 c.1425C>G c.(1423-1425)agC>agG p.S475R STAM_ENST00000540523.1_Missense_Mutation_p.S364R NM_003473.3 NP_003464.1 Q92783 STAM1_HUMAN signal transducing adaptor molecule (SH3 domain and ITAM motif) 1 475 cellular membrane organization|endosome transport|epidermal growth factor receptor signaling pathway|intracellular protein transport|negative regulation of epidermal growth factor receptor signaling pathway cytosol|early endosome membrane SH3/SH2 adaptor activity breast(2)|endometrium(4)|kidney(2)|large_intestine(3)|lung(11)|ovary(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1) 26 CATATCCCAGCCAGGCGCCAG 0.473000 47 102 0 0 1 0 0 ABCA4 24 broad.mit.edu 37 1 94471002 94471002 + Missense_Mutation SNP C C T TCGA-S9-A7IS-01A-11D-A34A-08 TCGA-S9-A7IS-10A-01D-A34A-08 Untested Somatic Phase_I WXS none Illumina GAIIx fd7e72c6-76b7-4a02-88c6-3758b6236763 55d139ea-5e3d-418f-aaa1-e4f54b9f82c1 g.chr1:94471002C>T ENST00000370225.3 - 44 6228 c.6142G>A c.(6142-6144)Gaa>Aaa p.E2048K ABCA4_ENST00000535881.1_Missense_Mutation_p.E167K|ABCA4_ENST00000536513.1_Missense_Mutation_p.E318K|ABCA4_ENST00000465352.1_5'UTR NM_000350.2 NP_000341.2 P78363 ABCA4_HUMAN ATP-binding cassette, sub-family A (ABC1), member 4 2048 ABC transporter 2. phototransduction, visible light|visual perception integral to plasma membrane|membrane fraction ATP binding|ATPase activity, coupled to transmembrane movement of substances NS(2)|breast(6)|central_nervous_system(5)|endometrium(9)|haematopoietic_and_lymphoid_tissue(5)|kidney(10)|large_intestine(25)|lung(57)|ovary(4)|pancreas(1)|prostate(4)|skin(10)|stomach(4)|upper_aerodigestive_tract(3)|urinary_tract(2) 147 all_lung(203;0.000757)|Lung NSC(277;0.00335) all cancers(265;0.00432)|GBM - Glioblastoma multiforme(16;0.00715)|Epithelial(280;0.171) TTCACCTTTTCGATTTCTTCT 0.448000 31 69 0 0 1 0 0 P2RY8 286530 broad.mit.edu 37 X 1585386 1585386 + Silent SNP G G A TCGA-S9-A7IS-01A-11D-A34A-08 TCGA-S9-A7IS-10A-01D-A34A-08 Untested Somatic Phase_I WXS none Illumina GAIIx fd7e72c6-76b7-4a02-88c6-3758b6236763 55d139ea-5e3d-418f-aaa1-e4f54b9f82c1 g.chrX:1585386G>A ENST00000381297.4 - 2 276 c.66C>T c.(64-66)atC>atT p.I22I P2RY8_ENST00000460672.1_5'UTR NM_178129.4 NP_835230.1 Q86VZ1 P2RY8_HUMAN purinergic receptor P2Y, G-protein coupled, 8 22 integral to membrane|plasma membrane purinergic nucleotide receptor activity, G-protein coupled endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(2)|lung(13)|prostate(1) 23 all_cancers(21;4.28e-07)|all_epithelial(21;2.07e-08)|all_lung(23;2.81e-05)|Lung NSC(23;0.000693)|Lung SC(21;0.122) GGGCCACCGCGATCGCCGGGT 0.697000 T CRLF2 """B-ALL, Downs associated ALL""" 5 24 0 0 1 0 0 TRBV9 0 broad.mit.edu 37 7 142239993 142239993 + RNA SNP A A G TCGA-S9-A7IS-01A-11D-A34A-08 TCGA-S9-A7IS-10A-01D-A34A-08 Untested Somatic Phase_I WXS none Illumina GAIIx fd7e72c6-76b7-4a02-88c6-3758b6236763 55d139ea-5e3d-418f-aaa1-e4f54b9f82c1 g.chr7:142239993A>G ENST00000390363.2 - 0 65 GCCACACAGCAGAGGAGCCTG 0.527000 31 35 0 0 1 0 0 SPATC1 375686 broad.mit.edu 37 8 145095874 145095874 + Missense_Mutation SNP G G A TCGA-S9-A7IS-01A-11D-A34A-08 TCGA-S9-A7IS-10A-01D-A34A-08 Untested Somatic Phase_I WXS none Illumina GAIIx fd7e72c6-76b7-4a02-88c6-3758b6236763 55d139ea-5e3d-418f-aaa1-e4f54b9f82c1 g.chr8:145095874G>A ENST00000377470.3 + 3 1274 c.1172G>A c.(1171-1173)cGt>cAt p.R391H SPATC1_ENST00000447830.2_Missense_Mutation_p.R391H NM_198572.2 NP_940974.2 Q76KD6 SPERI_HUMAN spermatogenesis and centriole associated 1 391 NS(1)|central_nervous_system(1)|kidney(1)|large_intestine(1)|lung(8)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1) 15 all_cancers(97;8.2e-11)|all_epithelial(106;1.1e-09)|Lung NSC(106;5.89e-05)|all_lung(105;0.000174)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155) OV - Ovarian serous cystadenocarcinoma(54;6.79e-41)|Epithelial(56;1.02e-39)|all cancers(56;3.67e-35)|Colorectal(110;0.055)|BRCA - Breast invasive adenocarcinoma(115;0.105) TCCCCACCTCGTACCTCATCC 0.622000 23 30 0 0 1 0 0 DCDC1 341019 broad.mit.edu 37 11 31312192 31312192 + Splice_Site SNP A A G TCGA-S9-A7IS-01A-11D-A34A-08 TCGA-S9-A7IS-10A-01D-A34A-08 Untested Somatic Phase_I WXS none Illumina GAIIx fd7e72c6-76b7-4a02-88c6-3758b6236763 55d139ea-5e3d-418f-aaa1-e4f54b9f82c1 g.chr11:31312192A>G ENST00000597505.1 - 5 960 c.e5+1 DCDC1_ENST00000452803.1_Splice_Site P59894 DCDC1_HUMAN doublecortin domain containing 1 intracellular signal transduction central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(4)|lung(17)|pancreas(2)|prostate(1)|skin(1)|stomach(1) 31 Lung SC(675;0.225) ATTAAAAATTACCTTTTTCAT 0.333000 37 45 0 0 1 0 0 HJURP 55355 broad.mit.edu 37 2 234756099 234756099 + Missense_Mutation SNP T T C TCGA-S9-A7IS-01A-11D-A34A-08 TCGA-S9-A7IS-10A-01D-A34A-08 Untested Somatic Phase_I WXS none Illumina GAIIx fd7e72c6-76b7-4a02-88c6-3758b6236763 55d139ea-5e3d-418f-aaa1-e4f54b9f82c1 g.chr2:234756099T>C ENST00000411486.2 - 5 411 c.346A>G c.(346-348)Agc>Ggc p.S116G HJURP_ENST00000441687.1_Intron|HJURP_ENST00000432087.1_Intron NM_018410.3 NP_060880.3 Q8NCD3 HJURP_HUMAN Holliday junction recognition protein 116 cell cycle|CenH3-containing nucleosome assembly at centromere|centromeric core chromatin assembly|chromosome segregation|regulation of DNA binding|regulation of protein complex assembly condensed chromosome kinetochore|cytoplasm|nucleolus|nucleoplasm DNA binding|histone binding NS(2)|breast(2)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(3)|lung(11)|ovary(2)|prostate(3)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2) 38 Breast(86;0.00204)|all_lung(227;0.00433)|Renal(207;0.00685)|all_hematologic(139;0.0116)|Acute lymphoblastic leukemia(138;0.0326)|Lung NSC(271;0.0719)|Lung SC(224;0.128) Epithelial(121;2.01e-18)|BRCA - Breast invasive adenocarcinoma(100;0.000186)|Lung(119;0.00521)|LUSC - Lung squamous cell carcinoma(224;0.00829) ACCTCACCGCTTTTTGAATCT 0.458000 32 43 0 0 1 0 0 DNAH3 55567 broad.mit.edu 37 16 21031081 21031081 + Missense_Mutation SNP C C T TCGA-S9-A7IS-01A-11D-A34A-08 TCGA-S9-A7IS-10A-01D-A34A-08 Untested Somatic Phase_I WXS none Illumina GAIIx fd7e72c6-76b7-4a02-88c6-3758b6236763 55d139ea-5e3d-418f-aaa1-e4f54b9f82c1 g.chr16:21031081C>T ENST00000261383.3 - 41 5886 c.5887G>A c.(5887-5889)Gtg>Atg p.V1963M DNAH3_ENST00000415178.1_3'UTR NM_017539.1 NP_060009.1 Q8TD57 DYH3_HUMAN dynein, axonemal, heavy chain 3 1963 ciliary or flagellar motility|microtubule-based movement axonemal dynein complex|cilium axoneme|cytoplasm|microtubule ATP binding|microtubule motor activity NS(3)|autonomic_ganglia(1)|breast(12)|central_nervous_system(3)|cervix(2)|endometrium(15)|haematopoietic_and_lymphoid_tissue(4)|kidney(10)|large_intestine(42)|liver(2)|lung(57)|ovary(14)|pancreas(1)|prostate(7)|skin(11)|stomach(5)|upper_aerodigestive_tract(7)|urinary_tract(6) 202 GBM - Glioblastoma multiforme(48;0.207) GTGCCAGCCACGGTCCACACC 0.488000 4 42 0 0 1 0 0 TSGA13 114960 broad.mit.edu 37 7 130364078 130364078 + Missense_Mutation SNP T T C TCGA-S9-A7IS-01A-11D-A34A-08 TCGA-S9-A7IS-10A-01D-A34A-08 Untested Somatic Phase_I WXS none Illumina GAIIx fd7e72c6-76b7-4a02-88c6-3758b6236763 55d139ea-5e3d-418f-aaa1-e4f54b9f82c1 g.chr7:130364078T>C ENST00000456951.1 - 6 1153 c.302A>G c.(301-303)aAc>aGc p.N101S TSGA13_ENST00000356588.3_Missense_Mutation_p.N101S Q96PP4 TSG13_HUMAN testis specific, 13 101 endometrium(1)|kidney(3)|large_intestine(3)|lung(6)|ovary(2)|skin(2)|upper_aerodigestive_tract(1) 18 Melanoma(18;0.0435) AGGTGGGTTGTTGGTCATAAT 0.438000 42 58 0 0 1 0 0 HBB 3043 broad.mit.edu 37 11 5248019 5248019 + Missense_Mutation SNP C C A rs1141387 TCGA-S9-A7IS-01A-11D-A34A-08 TCGA-S9-A7IS-10A-01D-A34A-08 Untested Somatic Phase_I WXS none Illumina GAIIx fd7e72c6-76b7-4a02-88c6-3758b6236763 55d139ea-5e3d-418f-aaa1-e4f54b9f82c1 g.chr11:5248019C>A ENST00000335295.3 - 2 278 c.103G>T c.(103-105)Gtc>Ttc p.V35F NM_000518.4 NP_000509.1 P68871 HBB_HUMAN hemoglobin, beta 35 V -> D (in Santander; unstable).|V -> F (in Pitie-Salpetriere; O(2) affinity up).|V -> L (in Nantes; increased oxygen affinity). blood coagulation|hydrogen peroxide catabolic process|nitric oxide transport|positive regulation of cell death|positive regulation of nitric oxide biosynthetic process|protein heterooligomerization|regulation of blood pressure|regulation of blood vessel size haptoglobin-hemoglobin complex|hemoglobin complex heme binding|hemoglobin binding|oxygen binding|oxygen transporter activity central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(3)|lung(7)|skin(1) 15 Medulloblastoma(188;0.00225)|Breast(177;0.0155)|all_neural(188;0.0212) Epithelial(150;2.76e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135) Iron Dextran(DB00893) CAAGGGTAGACCACCAGCAGC 0.507000 Sickle Cell Trait 21 42 1.00905e-13 1.09808e-13 1 1 0 CYP4Z2P 0 broad.mit.edu 37 1 47325313 47325315 + RNA DEL GTT GTT - TCGA-S9-A7IS-01A-11D-A34A-08 TCGA-S9-A7IS-10A-01D-A34A-08 Untested Somatic Phase_I WXS none Illumina GAIIx fd7e72c6-76b7-4a02-88c6-3758b6236763 55d139ea-5e3d-418f-aaa1-e4f54b9f82c1 g.chr1:47325313_47325315delGTT ENST00000505841.1 - 0 1204 NR_002788.2 AAAAAAAAAAGTTGTTTTAAGAC 0.409 7 93 --- --- --- --- HSPD1P6 0 broad.mit.edu 37 3 36810381 36810381 + RNA DEL T T - TCGA-S9-A7IS-01A-11D-A34A-08 TCGA-S9-A7IS-10A-01D-A34A-08 Untested Somatic Phase_I WXS none Illumina GAIIx fd7e72c6-76b7-4a02-88c6-3758b6236763 55d139ea-5e3d-418f-aaa1-e4f54b9f82c1 g.chr3:36810381delT ENST00000424886.1 - 0 405 GAGTGAGGCCttttttttttt 0.542 2 4 --- --- --- --- RBPJ 3516 broad.mit.edu 37 4 26426086 26426086 + Frame_Shift_Del DEL T T - TCGA-S9-A7IS-01A-11D-A34A-08 TCGA-S9-A7IS-10A-01D-A34A-08 Untested Somatic Phase_I WXS none Illumina GAIIx fd7e72c6-76b7-4a02-88c6-3758b6236763 55d139ea-5e3d-418f-aaa1-e4f54b9f82c1 g.chr4:26426086delT ENST00000342320.4 + 6 792 c.616delT c.(616-618)ttfs p.F207fs RBPJ_ENST00000355476.3_Frame_Shift_Del_p.F207fs|RBPJ_ENST00000361572.6_Frame_Shift_Del_p.F221fs|RBPJ_ENST00000504907.1_Frame_Shift_Del_p.F207fs|RBPJ_ENST00000345843.3_Frame_Shift_Del_p.F206fs|RBPJ_ENST00000507561.1_Frame_Shift_Del_p.F186fs|RBPJ_ENST00000342295.1_Frame_Shift_Del_p.F221fs|RBPJ_ENST00000348160.4_Frame_Shift_Del_p.F208fs Q06330 SUH_HUMAN recombination signal binding protein for immunoglobulin kappa J region 221 DNA recombination|negative regulation of transcription, DNA-dependent|positive regulation of transcription of Notch receptor target cytoplasm|nucleolus|nucleoplasm DNA binding|protein binding|recombinase activity|sequence-specific DNA binding transcription factor activity central_nervous_system(2)|kidney(3)|large_intestine(5)|lung(4)|ovary(1) 15 Breast(46;0.0503) GTGGGGAGCCTTTTTTATTCA 0.358 7 2330 --- --- --- --- PDGFRA 5156 broad.mit.edu 37 4 55151636 55151636 + Frame_Shift_Del DEL T T - TCGA-S9-A7IS-01A-11D-A34A-08 TCGA-S9-A7IS-10A-01D-A34A-08 Untested Somatic Phase_I WXS none Illumina GAIIx fd7e72c6-76b7-4a02-88c6-3758b6236763 55d139ea-5e3d-418f-aaa1-e4f54b9f82c1 g.chr4:55151636delT ENST00000257290.5 + 17 2753 c.2422delT c.(2422-2424)ttfs p.F808fs FIP1L1_ENST00000507166.1_Frame_Shift_Del_p.F568fs NM_006206.4 NP_006197.1 P16234 PGFRA_HUMAN platelet-derived growth factor receptor, alpha polypeptide 808 Protein kinase. cardiac myofibril assembly|cell activation|luteinization|metanephric glomerular capillary formation|peptidyl-tyrosine phosphorylation|positive regulation of cell migration|positive regulation of DNA replication|positive regulation of fibroblast proliferation|protein autophosphorylation|retina vasculature development in camera-type eye cytoplasm|integral to plasma membrane|nucleus ATP binding|platelet-derived growth factor alpha-receptor activity|platelet-derived growth factor binding|platelet-derived growth factor receptor binding|protein homodimerization activity|vascular endothelial growth factor receptor activity p.F808L(1) NS(1)|autonomic_ganglia(1)|bone(1)|breast(4)|central_nervous_system(17)|cervix(1)|endometrium(4)|eye(1)|gastrointestinal_tract_(site_indeterminate)(1)|haematopoietic_and_lymphoid_tissue(22)|kidney(6)|large_intestine(26)|liver(4)|lung(48)|ovary(4)|prostate(6)|skin(11)|small_intestine(49)|soft_tissue(727)|stomach(32)|urinary_tract(1) 967 all_cancers(7;0.000425)|all_lung(4;0.000343)|Lung NSC(11;0.000467)|all_epithelial(27;0.0131)|all_neural(26;0.0209)|Glioma(25;0.08) GBM - Glioblastoma multiforme(1;4.18e-71)|all cancers(1;4.76e-45)|LUSC - Lung squamous cell carcinoma(32;0.00256) Becaplermin(DB00102)|Imatinib(DB00619)|Sunitinib(DB01268) AGGAATGGAGTTTTTGGCTTC 0.418 """Mis, O, T""" FIP1L1 """GIST, idiopathic hypereosinophilic syndrome, paediatric GBM""" Gastrointestinal Stromal Tumors, Sporadic Multiple Primary;Familial Intestinal Neurofibromatosis TSP Lung(21;0.16) 8 1709 --- --- --- --- UBQLN1 29979 broad.mit.edu 37 9 86294709 86294717 + In_Frame_Del DEL TTATTCAAC TTATTCAAC - TCGA-S9-A7IS-01A-11D-A34A-08 TCGA-S9-A7IS-10A-01D-A34A-08 Untested Somatic Phase_I WXS none Illumina GAIIx fd7e72c6-76b7-4a02-88c6-3758b6236763 55d139ea-5e3d-418f-aaa1-e4f54b9f82c1 g.chr9:86294709_86294717delTTATTCAAC ENST00000376395.4 - 4 1207_1215 c.684_692delGTTGAATAA c.(682-693)att>at p.MLNN228del UBQLN1_ENST00000257468.7_In_Frame_Del_p.MLNN228del NM_013438.4|NM_053067.2 NP_038466.2|NP_444295.1 Q9UMX0 UBQL1_HUMAN ubiquilin 1 228 apoptosis|regulation of protein ubiquitination|response to hypoxia endoplasmic reticulum|nucleus|perinuclear region of cytoplasm|proteasome complex kinase binding breast(4)|endometrium(2)|kidney(4)|large_intestine(6)|lung(10)|prostate(1) 27 TATATCTGGATTATTCAACATATGACTAA 0.330 31 51 --- --- --- --- ARID2 196528 broad.mit.edu 37 12 46123891 46123892 + Frame_Shift_Del DEL AG AG - TCGA-S9-A7IS-01A-11D-A34A-08 TCGA-S9-A7IS-10A-01D-A34A-08 Untested Somatic Phase_I WXS none Illumina GAIIx fd7e72c6-76b7-4a02-88c6-3758b6236763 55d139ea-5e3d-418f-aaa1-e4f54b9f82c1 g.chr12:46123891_46123892delAG ENST00000334344.6 + 2 329_330 c.157_158delAG c.(157-159)afs p.R53fs ARID2_ENST00000422737.1_5'UTR NM_152641.2 NP_689854.2 Q68CP9 ARID2_HUMAN AT rich interactive domain 2 (ARID, RFX-like) 53 ARID. chromatin modification|regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|protein binding|zinc ion binding NS(1)|autonomic_ganglia(1)|breast(7)|central_nervous_system(3)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(21)|liver(20)|lung(34)|ovary(7)|pancreas(1)|prostate(2)|skin(5)|stomach(1)|upper_aerodigestive_tract(2) 116 Lung SC(27;0.192)|Renal(347;0.236) Lung NSC(34;0.106)|all_lung(34;0.22) OV - Ovarian serous cystadenocarcinoma(5;0.00691) GBM - Glioblastoma multiforme(48;0.0153) TCTCTACACCAGAGTCACTACT 0.530 """N, S, F""" hepatocellular carcinoma 38 71 --- --- --- --- NUCB1 4924 broad.mit.edu 37 19 49425109 49425111 + In_Frame_Del DEL AGC AGC - TCGA-S9-A7IS-01A-11D-A34A-08 TCGA-S9-A7IS-10A-01D-A34A-08 Untested Somatic Phase_I WXS none Illumina GAIIx fd7e72c6-76b7-4a02-88c6-3758b6236763 55d139ea-5e3d-418f-aaa1-e4f54b9f82c1 g.chr19:49425109_49425111delAGC ENST00000405315.4 + 12 1533_1535 c.1199_1201delAGC c.(1198-1203)aag>a p.KQ400del NUCB1_ENST00000263273.5_In_Frame_Del_p.KQ400del|NUCB1_ENST00000485798.1_3'UTR|NUCB1_ENST00000407032.1_In_Frame_Del_p.KQ400del NM_006184.5 NP_006175.2 Q02818 NUCB1_HUMAN nucleobindin 1 400 ER-Golgi intermediate compartment|extracellular space|Golgi apparatus|membrane|microtubule cytoskeleton calcium ion binding|DNA binding cervix(1)|endometrium(4)|large_intestine(4)|lung(8) 17 all_lung(116;4.89e-05)|Lung NSC(112;8.3e-05)|all_epithelial(76;8.64e-05)|all_neural(266;0.0506)|Ovarian(192;0.113) OV - Ovarian serous cystadenocarcinoma(262;0.000171)|all cancers(93;0.000333)|Epithelial(262;0.0174)|GBM - Glioblastoma multiforme(486;0.0244) Gagcagcggaagcagcagcagca 0.640 7 40 --- --- --- --- CTD-3187F8.14 0 broad.mit.edu 37 19 51658545 51658545 + RNA DEL A A - TCGA-S9-A7IS-01A-11D-A34A-08 TCGA-S9-A7IS-10A-01D-A34A-08 Untested Somatic Phase_I WXS none Illumina GAIIx fd7e72c6-76b7-4a02-88c6-3758b6236763 55d139ea-5e3d-418f-aaa1-e4f54b9f82c1 g.chr19:51658545delA ENST00000600074.1 - 0 674 GGCACTGCCTAGCAGGGCATG 0.607 2 4 --- --- --- --- ATRX 546 broad.mit.edu 37 X 76920173 76920173 + Frame_Shift_Del DEL T T - TCGA-S9-A7IS-01A-11D-A34A-08 TCGA-S9-A7IS-10A-01D-A34A-08 Untested Somatic Phase_I WXS none Illumina GAIIx fd7e72c6-76b7-4a02-88c6-3758b6236763 55d139ea-5e3d-418f-aaa1-e4f54b9f82c1 g.chrX:76920173delT ENST00000373344.5 - 11 4118 c.3904delA c.(3904-3906)gafs p.R1302fs ATRX_ENST00000480283.1_5'UTR|ATRX_ENST00000395603.3_Frame_Shift_Del_p.R1264fs NM_000489.3 NP_000480.2 P46100 ATRX_HUMAN alpha thalassemia/mental retardation syndrome X-linked 1302 DNA methylation|DNA recombination|DNA repair|regulation of transcription, DNA-dependent nuclear heterochromatin ATP binding|chromo shadow domain binding|DNA binding|DNA helicase activity|zinc ion binding p.R1302fs*7(1)|p.?(1)|p.R1302fs*44(1) bone(1)|breast(6)|central_nervous_system(31)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(15)|kidney(14)|large_intestine(1)|liver(1)|lung(40)|ovary(2)|pancreas(13)|prostate(5)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(2) 145 Phosphatidylserine(DB00144) TTTCCAGTTCTTTTTTTCCCT 0.378 """Mis, F, N""" """Pancreatic neuroendocrine tumors, paediatric GBM""" ATR-X (alpha thalassemia/mental retardation) syndrome 71 90 --- --- --- ---