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 PRMT7 54496 broad.mit.edu 37 16 68389759 68389759 + Missense_Mutation SNP G G A TCGA-05-4433-01A-22D-1855-08 TCGA-05-4433-10A-01D-1855-08 Untested Somatic Phase_I WXS none Illumina GAIIx fab4f1ca-1605-4c30-8b3e-badb44eb6580 b4ea29e6-c7ca-4290-8efd-9bdb823edbee g.chr16:68389759G>A ENST00000339507.5 + 17 2614 c.1784G>A c.(1783-1785)tGt>tAt p.C595Y PRMT7_ENST00000449359.3_Missense_Mutation_p.C545Y|PRMT7_ENST00000441236.1_Missense_Mutation_p.C545Y|PRMT7_ENST00000348497.4_Missense_Mutation_p.C447Y Q9NVM4 ANM7_HUMAN protein arginine methyltransferase 7 595 cell differentiation|DNA methylation involved in gamete generation|regulation of gene expression by genetic imprinting|regulation of transcription, DNA-dependent|spliceosomal snRNP assembly|transcription, DNA-dependent cytosol|nucleus [myelin basic protein]-arginine N-methyltransferase activity|histone methyltransferase activity (H4-R3 specific)|protein-arginine omega-N monomethyltransferase activity|protein-arginine omega-N symmetric methyltransferase activity|ribonucleoprotein binding p.C595Y(1) endometrium(3)|kidney(2)|large_intestine(3)|lung(10)|pancreas(1)|urinary_tract(1) 20 Ovarian(137;0.192) OV - Ovarian serous cystadenocarcinoma(108;0.0155)|Epithelial(162;0.0629) CAGCCCCTGTGTGCCGAGGGC 0.687000 7 19 0 0 0.001984 0 0 MEX3B 84206 broad.mit.edu 37 15 82336228 82336228 + Missense_Mutation SNP G G A TCGA-05-4433-01A-22D-1855-08 TCGA-05-4433-10A-01D-1855-08 Untested Somatic Phase_I WXS none Illumina GAIIx fab4f1ca-1605-4c30-8b3e-badb44eb6580 b4ea29e6-c7ca-4290-8efd-9bdb823edbee g.chr15:82336228G>A ENST00000329713.4 - 2 1418 c.983C>T c.(982-984)gCg>gTg p.A328V MEX3B_ENST00000558133.1_3'UTR NM_032246.3 NP_115622.2 Q6ZN04 MEX3B_HUMAN mex-3 RNA binding family member B 328 protein autophosphorylation cytoplasmic mRNA processing body|nucleus calcium ion binding|RNA binding|zinc ion binding p.A328V(1) breast(2)|endometrium(1)|kidney(1)|large_intestine(5)|lung(9)|upper_aerodigestive_tract(1) 19 TCCGTTGTGCGCAAAGCTCAG 0.647000 33 86 0 0 0.004878 0 0 C10orf137 26098 broad.mit.edu 37 10 127426974 127426974 + Silent SNP C C T TCGA-05-4433-01A-22D-1855-08 TCGA-05-4433-10A-01D-1855-08 Untested Somatic Phase_I WXS none Illumina GAIIx fab4f1ca-1605-4c30-8b3e-badb44eb6580 b4ea29e6-c7ca-4290-8efd-9bdb823edbee g.chr10:127426974C>T ENST00000337623.3 + 14 1944 c.1839C>T c.(1837-1839)ccC>ccT p.P613P C10orf137_ENST00000356792.4_Silent_p.P647P NM_015608.2 NP_056423.2 Q3B7T1 EDRF1_HUMAN chromosome 10 open reading frame 137 647 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus binding p.P613P(1) NS(1)|breast(1)|central_nervous_system(1)|endometrium(4)|kidney(5)|large_intestine(12)|lung(20)|ovary(8)|pancreas(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(4) 61 all_lung(145;0.0096)|Lung NSC(174;0.0145)|Colorectal(57;0.0846)|all_neural(114;0.0936) GAGGGGGTCCCGAGGGGCTAG 0.438000 18 98 0 0 0.006122 0 0 ADAMTS20 80070 broad.mit.edu 37 12 43837660 43837660 + Missense_Mutation SNP C C T TCGA-05-4433-01A-22D-1855-08 TCGA-05-4433-10A-01D-1855-08 Untested Somatic Phase_I WXS none Illumina GAIIx fab4f1ca-1605-4c30-8b3e-badb44eb6580 b4ea29e6-c7ca-4290-8efd-9bdb823edbee g.chr12:43837660C>T ENST00000389420.3 - 16 2223 c.2224G>A c.(2224-2226)Gca>Aca p.A742T ADAMTS20_ENST00000553158.1_Missense_Mutation_p.A742T NM_025003.3 NP_079279.3 P59510 ATS20_HUMAN ADAM metallopeptidase with thrombospondin type 1 motif, 20 742 Spacer. proteinaceous extracellular matrix zinc ion binding p.A742T(2) breast(1)|central_nervous_system(6)|endometrium(3)|kidney(4)|large_intestine(11)|liver(1)|lung(43)|ovary(4)|pancreas(3)|prostate(5)|skin(12)|upper_aerodigestive_tract(1)|urinary_tract(1) 95 all_cancers(12;2.6e-05)|Lung SC(27;0.184) Lung NSC(34;0.0569)|all_lung(34;0.129) GBM - Glioblastoma multiforme(48;0.0473) GTTGCTCCTGCGGGAATCTTT 0.383000 64 173 0 0 0.014410 0 0 HMX2 3167 broad.mit.edu 37 10 124907981 124907981 + Silent SNP C C T TCGA-05-4433-01A-22D-1855-08 TCGA-05-4433-10A-01D-1855-08 Untested Somatic Phase_I WXS none Illumina GAIIx fab4f1ca-1605-4c30-8b3e-badb44eb6580 b4ea29e6-c7ca-4290-8efd-9bdb823edbee g.chr10:124907981C>T ENST00000339992.3 + 1 344 c.87C>T c.(85-87)ggC>ggT p.G29G NM_005519.1 NP_005510.1 A2RU54 HMX2_HUMAN H6 family homeobox 2 29 cell differentiation nucleus sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity p.G29G(1) endometrium(1)|kidney(1)|lung(4)|prostate(1) 7 all_neural(114;0.169)|Colorectal(57;0.207)|Glioma(114;0.222) Colorectal(40;0.123)|COAD - Colon adenocarcinoma(40;0.141) TGGGCGGGGGCCCCTCGGAGG 0.701000 18 30 0 0 0.010504 0 0 SLC11A2 4891 broad.mit.edu 37 12 51393019 51393019 + Missense_Mutation SNP G G A TCGA-05-4433-01A-22D-1855-08 TCGA-05-4433-10A-01D-1855-08 Untested Somatic Phase_I WXS none Illumina GAIIx fab4f1ca-1605-4c30-8b3e-badb44eb6580 b4ea29e6-c7ca-4290-8efd-9bdb823edbee g.chr12:51393019G>A ENST00000394904.3 - 8 749 c.700C>T c.(700-702)Cgg>Tgg p.R234W SLC11A2_ENST00000262051.7_Missense_Mutation_p.R205W|SLC11A2_ENST00000262052.5_Missense_Mutation_p.R205W|SLC11A2_ENST00000546743.1_Missense_Mutation_p.R126W|SLC11A2_ENST00000547688.1_Missense_Mutation_p.R234W|SLC11A2_ENST00000545993.2_Missense_Mutation_p.R201W|SLC11A2_ENST00000541174.2_Missense_Mutation_p.R205W|SLC11A2_ENST00000547198.1_Missense_Mutation_p.R205W NM_001174125.1 NP_001167596.1 P49281 NRAM2_HUMAN solute carrier family 11 (proton-coupled divalent metal ion transporter), member 2 205 activation of caspase activity|cellular iron ion homeostasis|cellular response to oxidative stress|detection of oxygen|ferrous iron import|multicellular organismal iron ion homeostasis|response to hypoxia|response to iron ion apical plasma membrane|basal part of cell|cell surface|cytoplasmic vesicle|early endosome|late endosome|late endosome membrane|lysosomal membrane|lysosome|nucleus|paraferritin complex|perinuclear region of cytoplasm|plasma membrane|recycling endosome|trans-Golgi network cadmium ion transmembrane transporter activity|cobalt ion transmembrane transporter activity|copper ion transmembrane transporter activity|ferrous iron transmembrane transporter activity|lead ion transmembrane transporter activity|manganese ion transmembrane transporter activity|nickel ion transmembrane transporter activity|protein binding|solute:hydrogen symporter activity|vanadium ion transmembrane transporter activity|zinc ion transmembrane transporter activity p.R205W(1) breast(2)|cervix(1)|endometrium(3)|kidney(16)|large_intestine(4)|lung(9)|upper_aerodigestive_tract(1) 36 TCTAGCTTCCGCAAGCCTAAA 0.453000 4 85 0 0 0.009096 0 0 UPF2 26019 broad.mit.edu 37 10 11973641 11973641 + Splice_Site SNP T T A TCGA-05-4433-01A-22D-1855-08 TCGA-05-4433-10A-01D-1855-08 Untested Somatic Phase_I WXS none Illumina GAIIx fab4f1ca-1605-4c30-8b3e-badb44eb6580 b4ea29e6-c7ca-4290-8efd-9bdb823edbee g.chr10:11973641T>A ENST00000356352.2 - 19 4160 c.3688_splice c.e19+1 p.Q1229_splice UPF2_ENST00000357604.5_Splice_Site_p.Q1229_splice|UPF2_ENST00000397053.2_Splice_Site_p.Q1229_splice Q9HAU5 RENT2_HUMAN UPF2 regulator of nonsense transcripts homolog (yeast) 1229 Sufficient for interaction with EIF4A1 and EIF1.|Sufficient for interaction with UPF1 C- terminus. mRNA export from nucleus|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay exon-exon junction complex|perinuclear region of cytoplasm identical protein binding|RNA binding p.Q1229H(1) breast(3)|central_nervous_system(3)|cervix(1)|endometrium(5)|kidney(6)|large_intestine(14)|lung(17)|ovary(2)|skin(3)|urinary_tract(2) 56 Renal(717;0.228) ATTTTATACCTTGATAATCTT 0.338000 36 75 0 0 0.004878 0 0 RP11-423O2.5 0 broad.mit.edu 37 1 142803552 142803552 + RNA SNP T T A rs141013493 by1000genomes TCGA-05-4433-01A-22D-1855-08 TCGA-05-4433-10A-01D-1855-08 Untested Somatic Phase_I WXS none Illumina GAIIx fab4f1ca-1605-4c30-8b3e-badb44eb6580 b4ea29e6-c7ca-4290-8efd-9bdb823edbee g.chr1:142803552T>A ENST00000423385.1 - 0 1413 TCCTGATGAATCTGCAGTCAG 0.269000 9 289 0 0 0.006214 0 0 GPR45 11250 broad.mit.edu 37 2 105859409 105859409 + Missense_Mutation SNP G G A TCGA-05-4433-01A-22D-1855-08 TCGA-05-4433-10A-01D-1855-08 Untested Somatic Phase_I WXS none Illumina GAIIx fab4f1ca-1605-4c30-8b3e-badb44eb6580 b4ea29e6-c7ca-4290-8efd-9bdb823edbee g.chr2:105859409G>A ENST00000258456.1 + 1 1210 c.1094G>A c.(1093-1095)tGc>tAc p.C365Y NM_007227.3 NP_009158.3 Q9Y5Y3 GPR45_HUMAN G protein-coupled receptor 45 365 integral to membrane|plasma membrane G-protein coupled receptor activity|protein binding p.C365Y(1) breast(1)|central_nervous_system(1)|endometrium(1)|kidney(3)|large_intestine(8)|lung(10)|ovary(1)|prostate(1)|stomach(1)|urinary_tract(1) 28 GTCTACGTGTGCAATGAAAAC 0.602000 30 81 0 0 0.008361 0 0 CDKN2A 1029 broad.mit.edu 37 9 21971111 21971111 + Missense_Mutation SNP G G A rs121913385 TCGA-05-4433-01A-22D-1855-08 TCGA-05-4433-10A-01D-1855-08 Untested Somatic Phase_I WXS none Illumina GAIIx fab4f1ca-1605-4c30-8b3e-badb44eb6580 b4ea29e6-c7ca-4290-8efd-9bdb823edbee g.chr9:21971111G>A ENST00000579755.1 - 2 582 c.290C>T c.(289-291)gCa>gTa p.A97V CDKN2A_ENST00000446177.1_Missense_Mutation_p.H83Y|CDKN2A_ENST00000494262.1_Missense_Mutation_p.H32Y|CDKN2A_ENST00000579122.1_Missense_Mutation_p.H83Y|CDKN2A_ENST00000479692.2_Missense_Mutation_p.H32Y|CDKN2A_ENST00000498124.1_Missense_Mutation_p.H83Y|CDKN2A_ENST00000497750.1_Missense_Mutation_p.H32Y|CDKN2A_ENST00000304494.5_Missense_Mutation_p.H83Y|CDKN2A_ENST00000498628.2_Missense_Mutation_p.H32Y|CDKN2A_ENST00000361570.3_Missense_Mutation_p.A138V|RP11-145E5.5_ENST00000404796.2_Intron|CDKN2A_ENST00000578845.2_Missense_Mutation_p.H32Y|CDKN2A_ENST00000530628.2_Missense_Mutation_p.A97V P42771 CD2A1_HUMAN cyclin-dependent kinase inhibitor 2A 0 L -> R (in CMM2; loss of CDK4 binding). cell cycle arrest|cell cycle checkpoint|G1 phase of mitotic cell cycle|G1/S transition of mitotic cell cycle|induction of apoptosis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of cell-matrix adhesion|negative regulation of cyclin-dependent protein kinase activity|negative regulation of NF-kappaB transcription factor activity|positive regulation of macrophage apoptosis|positive regulation of smooth muscle cell apoptosis|Ras protein signal transduction|replicative senescence cytosol|nucleus cyclin-dependent protein kinase inhibitor activity|NF-kappaB binding|protein binding|protein kinase binding p.0?(1315)|p.?(44)|p.H83Y(30)|p.A138V(2)|p.H83fs*2(2)|p.H83N(1)|p.V82fs*62(1)|p.0(1)|p.V82_G89>G(1)|p.E61_L94del(1)|p.R137fs*48(1)|p.A68fs*3(1)|p.P81_A85del(1)|p.R80fs*34(1)|p.V82_E88del(1) NS(28)|adrenal_gland(6)|autonomic_ganglia(11)|biliary_tract(74)|bone(84)|breast(46)|central_nervous_system(522)|cervix(23)|endometrium(14)|eye(4)|genital_tract(15)|haematopoietic_and_lymphoid_tissue(698)|kidney(39)|large_intestine(11)|liver(92)|lung(365)|meninges(18)|oesophagus(239)|ovary(98)|pancreas(263)|pleura(94)|prostate(13)|salivary_gland(10)|skin(541)|small_intestine(1)|soft_tissue(93)|stomach(48)|thymus(4)|thyroid(24)|upper_aerodigestive_tract(436)|urinary_tract(283)|vulva(2) 4199 all_cancers(5;0)|Acute lymphoblastic leukemia(3;0)|all_hematologic(3;0)|all_epithelial(2;2.37e-290)|Lung NSC(2;1.26e-139)|all_lung(2;4.48e-131)|Glioma(2;3.26e-60)|all_neural(2;2.1e-52)|Renal(3;1.07e-46)|Esophageal squamous(3;3.83e-46)|Melanoma(2;2.74e-34)|Breast(3;1.14e-11)|Ovarian(3;0.000128)|Hepatocellular(5;0.00162)|Colorectal(97;0.172) all cancers(2;0)|GBM - Glioblastoma multiforme(3;0)|Lung(2;4.07e-74)|Epithelial(2;1.08e-61)|LUSC - Lung squamous cell carcinoma(2;3.82e-48)|LUAD - Lung adenocarcinoma(2;4.56e-26)|OV - Ovarian serous cystadenocarcinoma(39;7.64e-10)|BRCA - Breast invasive adenocarcinoma(2;5.01e-09)|STAD - Stomach adenocarcinoma(4;4.63e-07)|Kidney(2;5.79e-07)|KIRC - Kidney renal clear cell carcinoma(2;7.27e-07)|COAD - Colon adenocarcinoma(8;5.15e-05) GCAGCGTCGTGCACGGGTCGG 0.741000 H83Y(CALU3_LUNG)|H83Y(HS944T_SKIN)|H83Y(JHH2_LIVER)|H83Y(OPM2_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|H83Y(SEM_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE) 17 HNSCC(2;<9.43e_08)|TSP Lung(5;3.83e-07) 6 8 0 0 0.006214 0 0 NAA11 84779 broad.mit.edu 37 4 80246366 80246366 + Silent SNP T T C TCGA-05-4433-01A-22D-1855-08 TCGA-05-4433-10A-01D-1855-08 Untested Somatic Phase_I WXS none Illumina GAIIx fab4f1ca-1605-4c30-8b3e-badb44eb6580 b4ea29e6-c7ca-4290-8efd-9bdb823edbee g.chr4:80246366T>C ENST00000286794.4 - 1 838 c.666A>G c.(664-666)tcA>tcG p.S222S NAA11_ENST00000513733.1_5'UTR NM_032693.2 NP_116082.1 Q9BSU3 NAA11_HUMAN N(alpha)-acetyltransferase 11, NatA catalytic subunit 222 cytoplasm|nucleus peptide alpha-N-acetyltransferase activity|protein binding p.S222S(1) NS(1)|breast(1)|central_nervous_system(1)|endometrium(3)|large_intestine(4)|lung(9)|ovary(1)|pancreas(1)|skin(2) 23 CCGAGCTTTCTGAGCTGTCCT 0.537000 6 24 0 0 0.001168 0 0 OR8H1 219469 broad.mit.edu 37 11 56058356 56058356 + Silent SNP A A G TCGA-05-4433-01A-22D-1855-08 TCGA-05-4433-10A-01D-1855-08 Untested Somatic Phase_I WXS none Illumina GAIIx fab4f1ca-1605-4c30-8b3e-badb44eb6580 b4ea29e6-c7ca-4290-8efd-9bdb823edbee g.chr11:56058356A>G ENST00000313022.2 - 1 210 c.183T>C c.(181-183)ttT>ttC p.F61F NM_001005199.1 NP_001005199.1 Q8NGG4 OR8H1_HUMAN olfactory receptor, family 8, subfamily H, member 1 61 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity p.F61F(1) NS(2)|breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(9)|lung(18)|ovary(1)|pancreas(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 43 Esophageal squamous(21;0.00448) GAGTAAGGAAAAAATACATGG 0.393000 83 142 0 0 0.014410 0 0 FAM86DP 692099 broad.mit.edu 37 3 75475607 75475607 + RNA SNP C C T TCGA-05-4433-01A-22D-1855-08 TCGA-05-4433-10A-01D-1855-08 Untested Somatic Phase_I WXS none Illumina GAIIx fab4f1ca-1605-4c30-8b3e-badb44eb6580 b4ea29e6-c7ca-4290-8efd-9bdb823edbee g.chr3:75475607C>T ENST00000459803.1 - 0 922 NR_024241.1 TCACCTAGCTCGGTGGTGAAC 0.652000 4 88 0 0 0.009096 0 0 SPATA31A1 647060 broad.mit.edu 37 9 39361018 39361018 + Missense_Mutation SNP G G A TCGA-05-4433-01A-22D-1855-08 TCGA-05-4433-10A-01D-1855-08 Untested Somatic Phase_I WXS none Illumina GAIIx fab4f1ca-1605-4c30-8b3e-badb44eb6580 b4ea29e6-c7ca-4290-8efd-9bdb823edbee g.chr9:39361018G>A ENST00000377647.3 + 4 3285 c.3256G>A c.(3256-3258)Gag>Aag p.E1086K NM_001085452.1 NP_001078921.1 SPATA31 subfamily A, member 1 p.E1086K(1) ACTGGTGCACGAGGAGCCCAG 0.542000 102 447 0 0 0.014410 0 0 CHST12 55501 broad.mit.edu 37 7 2472309 2472309 + Missense_Mutation SNP T T G TCGA-05-4433-01A-22D-1855-08 TCGA-05-4433-10A-01D-1855-08 Untested Somatic Phase_I WXS none Illumina GAIIx fab4f1ca-1605-4c30-8b3e-badb44eb6580 b4ea29e6-c7ca-4290-8efd-9bdb823edbee g.chr7:2472309T>G ENST00000258711.6 + 2 170 c.35T>G c.(34-36)gTg>gGg p.V12G NM_001243794.1|NM_001243795.1|NM_018641.4 NP_001230723.1|NP_001230724.1|NP_061111.1 Q9NRB3 CHSTC_HUMAN carbohydrate (chondroitin 4) sulfotransferase 12 12 dermatan sulfate biosynthetic process integral to Golgi membrane 3'-phosphoadenosine 5'-phosphosulfate binding|chondroitin 4-sulfotransferase activity|protein binding p.V12G(2) NS(1)|breast(1)|endometrium(1)|kidney(1)|large_intestine(6)|liver(1)|lung(7)|prostate(1)|skin(1)|urinary_tract(1) 21 Ovarian(82;0.0253) UCEC - Uterine corpus endometrioid carcinoma (27;0.0847)|OV - Ovarian serous cystadenocarcinoma(56;2.25e-13) CTGTGGCTGGTGCTGGGGTCG 0.662000 6 47 0 0 0.008291 0 0 PLCL1 5334 broad.mit.edu 37 2 198950357 198950357 + Missense_Mutation SNP T T G TCGA-05-4433-01A-22D-1855-08 TCGA-05-4433-10A-01D-1855-08 Untested Somatic Phase_I WXS none Illumina GAIIx fab4f1ca-1605-4c30-8b3e-badb44eb6580 b4ea29e6-c7ca-4290-8efd-9bdb823edbee g.chr2:198950357T>G ENST00000428675.1 + 2 2514 c.2116T>G c.(2116-2118)Tac>Gac p.Y706D PLCL1_ENST00000437704.2_Missense_Mutation_p.Y608D NM_006226.3 NP_006217.3 Q15111 PLCL1_HUMAN phospholipase C-like 1 706 intracellular signal transduction|lipid metabolic process cytoplasm calcium ion binding|phosphatidylinositol phospholipase C activity|signal transducer activity p.Y706D(1)|p.Y608D(1) autonomic_ganglia(1)|breast(1)|cervix(1)|endometrium(8)|kidney(1)|large_intestine(14)|lung(44)|ovary(1)|pancreas(2)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1) 80 Quinacrine(DB01103) TGAAGTTTCTTACTTCAGCGC 0.483000 60 114 0 0 0.014410 0 0 SLITRK1 114798 broad.mit.edu 37 13 84453707 84453707 + Silent SNP G G T TCGA-05-4433-01A-22D-1855-08 TCGA-05-4433-10A-01D-1855-08 Untested Somatic Phase_I WXS none Illumina GAIIx fab4f1ca-1605-4c30-8b3e-badb44eb6580 b4ea29e6-c7ca-4290-8efd-9bdb823edbee g.chr13:84453707G>T ENST00000377084.2 - 1 2821 c.1936C>A c.(1936-1938)Cga>Aga p.R646R NM_052910.1 NP_443142.1 Q96PX8 SLIK1_HUMAN SLIT and NTRK-like family, member 1 646 integral to membrane p.R646*(1)|p.R646R(1) NS(2)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(22)|liver(1)|lung(36)|ovary(4)|prostate(2)|skin(3)|upper_aerodigestive_tract(1) 80 Medulloblastoma(90;0.18) Breast(118;0.212) GBM - Glioblastoma multiforme(99;0.07) GACCGCTTTCGGTTCCTCAGG 0.562000 15 35 6.31663e-08 8.20219e-08 0.003163 1 0 TAL1 6886 broad.mit.edu 37 1 47685806 47685806 + Silent SNP G G A TCGA-05-4433-01A-22D-1855-08 TCGA-05-4433-10A-01D-1855-08 Untested Somatic Phase_I WXS none Illumina GAIIx fab4f1ca-1605-4c30-8b3e-badb44eb6580 b4ea29e6-c7ca-4290-8efd-9bdb823edbee g.chr1:47685806G>A ENST00000371883.3 - 4 1164 c.588C>T c.(586-588)agC>agT p.S196S TAL1_ENST00000459729.1_5'UTR|TAL1_ENST00000371884.2_Silent_p.S194S|TAL1_ENST00000294339.3_Silent_p.S194S P17542 TAL1_HUMAN T-cell acute lymphocytic leukemia 1 194 basophil differentiation|cell fate commitment|cell proliferation|embryonic hemopoiesis|erythrocyte differentiation|megakaryocyte differentiation|positive regulation of cell division|positive regulation of chromatin assembly or disassembly|positive regulation of erythrocyte differentiation|positive regulation of mitotic cell cycle|positive regulation of protein complex assembly|positive regulation of transcription from RNA polymerase II promoter nuclear chromatin E-box binding|histone deacetylase binding|sequence-specific DNA binding transcription factor activity p.S194R(1)|p.S194S(1) haematopoietic_and_lymphoid_tissue(1)|lung(12)|prostate(1)|upper_aerodigestive_tract(1) 15 ATCGCTCCCGGCTGTTGGTGA 0.562000 T """TRD@, SIL""" lymphoblastic leukemia/biphasic 18 24 0 0 0.007413 0 0 DSG4 147409 broad.mit.edu 37 18 28991295 28991295 + Missense_Mutation SNP G G A TCGA-05-4433-01A-22D-1855-08 TCGA-05-4433-10A-01D-1855-08 Untested Somatic Phase_I WXS none Illumina GAIIx fab4f1ca-1605-4c30-8b3e-badb44eb6580 b4ea29e6-c7ca-4290-8efd-9bdb823edbee g.chr18:28991295G>A ENST00000359747.4 + 14 2325 c.2296G>A c.(2296-2298)Gca>Aca p.A766T RP11-534N16.1_ENST00000581856.1_RNA|RP11-534N16.1_ENST00000578477.1_RNA|DSG4_ENST00000308128.4_Missense_Mutation_p.A747T NM_001134453.1 NP_001127925.1 Q86SJ6 DSG4_HUMAN desmoglein 4 747 homophilic cell adhesion desmosome|integral to membrane calcium ion binding p.A747T(1)|p.A766T(1) NS(1)|breast(1)|central_nervous_system(6)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(11)|liver(2)|lung(35)|ovary(4)|skin(1)|stomach(1)|urinary_tract(1) 70 OV - Ovarian serous cystadenocarcinoma(10;0.00504) CCTCATggccgcaggggccgc 0.612000 4 67 0 0 0.009096 0 0 TP53 7157 broad.mit.edu 37 17 7578263 7578263 + Nonsense_Mutation SNP G G A TCGA-05-4433-01A-22D-1855-08 TCGA-05-4433-10A-01D-1855-08 Untested Somatic Phase_I WXS none Illumina GAIIx fab4f1ca-1605-4c30-8b3e-badb44eb6580 b4ea29e6-c7ca-4290-8efd-9bdb823edbee g.chr17:7578263G>A ENST00000420246.2 - 6 718 c.586C>T c.(586-588)Cga>Tga p.R196* TP53_ENST00000574684.1_Intron|TP53_ENST00000445888.2_Nonsense_Mutation_p.R196*|TP53_ENST00000359597.4_Nonsense_Mutation_p.R196*|TP53_ENST00000455263.2_Nonsense_Mutation_p.R196*|TP53_ENST00000269305.4_Nonsense_Mutation_p.R196*|TP53_ENST00000413465.2_Nonsense_Mutation_p.R196* NM_001126114.2|NM_001276696.1 NP_001119586.1|NP_001263625.1 P04637 P53_HUMAN tumor protein p53 196 Interaction with AXIN1 (By similarity).|Interaction with HIPK1 (By similarity).|Required for interaction with FBXO42. R -> G (in sporadic cancers; somatic mutation).|R -> L (in sporadic cancers; somatic mutation).|R -> P (in LFS; germline mutation and in sporadic cancers; somatic mutation).|R -> Q (in sporadic cancers; somatic mutation).|R -> S (in a sporadic cancer; somatic mutation). activation of caspase activity by cytochrome c|base-excision repair|blood coagulation|cell cycle arrest|cell differentiation|cell proliferation|cellular protein localization|cellular response to drug|cellular response to glucose starvation|cellular response to hypoxia|cellular response to ionizing radiation|cellular response to UV|determination of adult lifespan|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|ER overload response|interspecies interaction between organisms|negative regulation of apoptosis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of helicase activity|negative regulation of transcription from RNA polymerase II promoter|nucleotide-excision repair|oxidative stress-induced premature senescence|positive regulation of histone deacetylation|positive regulation of neuron apoptosis|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of reactive oxygen species metabolic process|positive regulation of thymocyte apoptosis|positive regulation of transcription from RNA polymerase II promoter|protein localization|protein tetramerization|Ras protein signal transduction|regulation of mitochondrial membrane permeability|replicative senescence|response to antibiotic|response to gamma radiation|response to X-ray cytoplasm|cytosol|endoplasmic reticulum|insoluble fraction|mitochondrion|nuclear chromatin|nuclear matrix|nucleolus|nucleus|PML body|protein complex|replication fork ATP binding|chaperone binding|chromatin binding|copper ion binding|damaged DNA binding|DNA strand annealing activity|histone acetyltransferase binding|p53 binding|protease binding|protein binding|protein heterodimerization activity|protein kinase binding|protein N-terminus binding|protein phosphatase 2A binding|RNA polymerase II transcription factor binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|transcription repressor activity|ubiquitin protein ligase binding|zinc ion binding p.R196*(167)|p.R64*(14)|p.R103*(14)|p.0?(8)|p.R196fs*51(7)|p.?(5)|p.A189_V197delAPPQHLIRV(4)|p.P191_E198>Q(3)|p.R196R(2)|p.I195fs*50(1)|p.R64fs*>27(1)|p.R103fs*51(1)|p.P191fs*6(1)|p.I195_G199delIRVEG(1)|p.P98_E105>Q(1)|p.I195fs*12(1)|p.P59_E66>Q(1) NS(16)|adrenal_gland(37)|autonomic_ganglia(16)|biliary_tract(273)|bone(108)|breast(2530)|central_nervous_system(1264)|cervix(68)|endometrium(223)|eye(24)|fallopian_tube(1)|gastrointestinal_tract_(site_indeterminate)(1)|genital_tract(16)|haematopoietic_and_lymphoid_tissue(1301)|kidney(96)|large_intestine(5124)|liver(897)|lung(2388)|meninges(5)|oesophagus(1473)|ovary(1659)|pancreas(452)|penis(10)|peritoneum(33)|pituitary(4)|placenta(1)|pleura(3)|prostate(235)|salivary_gland(43)|skin(791)|small_intestine(14)|soft_tissue(220)|stomach(1158)|testis(11)|thymus(21)|thyroid(54)|upper_aerodigestive_tract(2271)|urinary_tract(1259)|vagina(6)|vulva(79) 24185 all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081) GBM - Glioblastoma multiforme(2;1.59e-06)|READ - Rectum adenocarcinoma(115;0.174) CCTTCCACTCGGATAAGATGC 0.552000 111 """Mis, N, F""" """breast, colorectal, lung, sarcoma, adrenocortical, glioma, multiple other tumour types""" """breast, sarcoma, adrenocortical carcinoma, glioma, multiple other tumour types""" Other conserved DNA damage response genes Osteosarcoma, Familial Clustering of;Li-Fraumeni syndrome;Hereditary Breast-Ovarian Cancer, non-BRCA1/2;Hereditary Adrenocortical Cancer;Endometrial Cancer, Familial Clustering of HNSCC(1;<9.43e-08)|TCGA GBM(1;<1E-08)|TSP Lung(2;<1E-08)|TCGA Ovarian(1;<1.89e-07)|Multiple Myeloma(5;0.019) 11 25 0 0 0.010729 0 0 SIK2 23235 broad.mit.edu 37 11 111591374 111591374 + Missense_Mutation SNP A A T TCGA-05-4433-01A-22D-1855-08 TCGA-05-4433-10A-01D-1855-08 Untested Somatic Phase_I WXS none Illumina GAIIx fab4f1ca-1605-4c30-8b3e-badb44eb6580 b4ea29e6-c7ca-4290-8efd-9bdb823edbee g.chr11:111591374A>T ENST00000304987.3 + 11 1841 c.1668A>T c.(1666-1668)agA>agT p.R556S SIK2_ENST00000533868.1_3'UTR NM_015191.1 NP_056006.1 Q9H0K1 SIK2_HUMAN salt-inducible kinase 2 556 intracellular protein kinase cascade|regulation of insulin receptor signaling pathway Golgi apparatus ATP binding|magnesium ion binding|protein binding|protein serine/threonine kinase activity p.R556S(1) breast(1)|central_nervous_system(2)|cervix(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(5)|lung(7)|prostate(3)|skin(1)|upper_aerodigestive_tract(3) 30 TAAGCCTGAGACCTACCAACC 0.537000 40 81 0 0 0.008740 0 0 FARP1 10160 broad.mit.edu 37 13 98896791 98896791 + Missense_Mutation SNP C C T TCGA-05-4433-01A-22D-1855-08 TCGA-05-4433-10A-01D-1855-08 Untested Somatic Phase_I WXS none Illumina GAIIx fab4f1ca-1605-4c30-8b3e-badb44eb6580 b4ea29e6-c7ca-4290-8efd-9bdb823edbee g.chr13:98896791C>T ENST00000376581.5 + 3 254 c.218C>T c.(217-219)aCg>aTg p.T73M FARP1_ENST00000319562.6_Intron|FARP1_ENST00000595437.1_Intron|FARP1_ENST00000376586.2_Intron NM_001001715.2 NP_001001715.2 Q9Y4F1 FARP1_HUMAN FERM, RhoGEF (ARHGEF) and pleckstrin domain protein 1 (chondrocyte-derived) 0 FERM. regulation of Rho protein signal transduction cytoplasm|cytoskeleton|extrinsic to membrane cytoskeletal protein binding|Rho guanyl-nucleotide exchange factor activity p.T73M(1) breast(3)|endometrium(6)|kidney(6)|large_intestine(13)|lung(16)|ovary(1)|skin(3)|urinary_tract(1) 49 all_neural(89;0.0982)|Medulloblastoma(90;0.163)|Lung SC(71;0.184) BRCA - Breast invasive adenocarcinoma(86;0.233) TCCTCCTGGACGGGTTGGGTA 0.488000 15 41 0 0 0.002450 0 0 RGPD8 727851 broad.mit.edu 37 2 113127775 113127775 + Missense_Mutation SNP G G C TCGA-05-4433-01A-22D-1855-08 TCGA-05-4433-10A-01D-1855-08 Untested Somatic Phase_I WXS none Illumina GAIIx fab4f1ca-1605-4c30-8b3e-badb44eb6580 b4ea29e6-c7ca-4290-8efd-9bdb823edbee g.chr2:113127775G>C ENST00000302558.3 - 23 5469 c.5278C>G c.(5278-5280)Cct>Gct p.P1760A RGPD8_ENST00000409750.1_Missense_Mutation_p.P1620A NM_001164463.1 NP_001157935.1 RANBP2-like and GRIP domain containing 8 p.P1760A(12) endometrium(4)|kidney(1)|lung(1)|prostate(3)|urinary_tract(1) 10 GAACGGGAAGGATTTTCTTCC 0.308000 3 119 0 0 0.004672 0 0 ANKDD1A 348094 broad.mit.edu 37 15 65208038 65208038 + Missense_Mutation SNP A A G TCGA-05-4433-01A-22D-1855-08 TCGA-05-4433-10A-01D-1855-08 Untested Somatic Phase_I WXS none Illumina GAIIx fab4f1ca-1605-4c30-8b3e-badb44eb6580 b4ea29e6-c7ca-4290-8efd-9bdb823edbee g.chr15:65208038A>G ENST00000380230.3 + 2 106 c.77A>G c.(76-78)aAc>aGc p.N26S ANKDD1A_ENST00000319580.8_Intron|ANKDD1A_ENST00000491145.1_3'UTR|ANKDD1A_ENST00000496660.1_Intron|AC069368.3_ENST00000437723.1_Intron|ANKDD1A_ENST00000395720.1_Missense_Mutation_p.N26S|ANKDD1A_ENST00000357698.3_Missense_Mutation_p.N26S NM_182703.3 NP_874362.3 Q495B1 AKD1A_HUMAN ankyrin repeat and death domain containing 1A 26 signal transduction p.N26S(1) NS(1)|endometrium(1)|large_intestine(10)|liver(2)|lung(4)|ovary(1)|prostate(2) 21 GCCCGCCAGAACAATGTCGGC 0.597000 12 41 0 0 0.010729 0 0 SDHAP1 255812 broad.mit.edu 37 3 195701331 195701331 + RNA SNP G G A rs78212497 by1000genomes TCGA-05-4433-01A-22D-1855-08 TCGA-05-4433-10A-01D-1855-08 Untested Somatic Phase_I WXS none Illumina GAIIx fab4f1ca-1605-4c30-8b3e-badb44eb6580 b4ea29e6-c7ca-4290-8efd-9bdb823edbee g.chr3:195701331G>A ENST00000427841.1 - 0 1493 NR_003264.2 GTCCAATAGCGAGTTTGCCCC 0.592000 9 54 0 0 0.006214 0 0 ZNF536 9745 broad.mit.edu 37 19 30935693 30935693 + Missense_Mutation SNP C C A TCGA-05-4433-01A-22D-1855-08 TCGA-05-4433-10A-01D-1855-08 Untested Somatic Phase_I WXS none Illumina GAIIx fab4f1ca-1605-4c30-8b3e-badb44eb6580 b4ea29e6-c7ca-4290-8efd-9bdb823edbee g.chr19:30935693C>A ENST00000355537.3 + 2 1371 c.1224C>A c.(1222-1224)gaC>gaA p.D408E NM_014717.1 NP_055532.1 O15090 ZN536_HUMAN zinc finger protein 536 408 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus zinc ion binding p.D408E(1) NS(3)|breast(6)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(22)|lung(119)|ovary(7)|prostate(4)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(3) 182 Esophageal squamous(110;0.0834) CCCCCAGCGACCCCGAGGTGC 0.632000 14 56 1.05317e-09 1.40963e-09 0.002450 1 0 CBWD1 55871 broad.mit.edu 37 9 164038 164038 + Splice_Site SNP C C G TCGA-05-4433-01A-22D-1855-08 TCGA-05-4433-10A-01D-1855-08 Untested Somatic Phase_I WXS none Illumina GAIIx fab4f1ca-1605-4c30-8b3e-badb44eb6580 b4ea29e6-c7ca-4290-8efd-9bdb823edbee g.chr9:164038C>G ENST00000377447.3 - 5 486 c.e5-1 CBWD1_ENST00000314367.10_Splice_Site|CBWD1_ENST00000431099.2_Splice_Site|CBWD1_ENST00000382447.4_Splice_Site|CBWD1_ENST00000377400.4_Splice_Site|CBWD1_ENST00000356521.4_Splice_Site Q9BRT8 CBWD1_HUMAN COBW domain containing 1 ATP binding|protein binding p.?(2) kidney(1)|lung(2)|ovary(1)|skin(1) 5 all_lung(41;0.218) all_cancers(5;3.04e-16)|all_epithelial(5;4.68e-12)|all_lung(10;1.94e-10)|Lung NSC(10;3.61e-10)|Acute lymphoblastic leukemia(5;0.00439)|Breast(48;0.0148)|all_hematologic(5;0.024)|Prostate(43;0.122) Kidney(42;0.112)|KIRC - Kidney renal clear cell carcinoma(5;0.157) all cancers(5;0.000704)|Lung(218;0.00755)|GBM - Glioblastoma multiforme(5;0.0149)|Epithelial(6;0.0154) GCCACTGCACCTGAAAATATA 0.284000 5 202 0 0 0.001168 0 0 DKK2 27123 broad.mit.edu 37 4 107846995 107846995 + Nonsense_Mutation SNP G G A TCGA-05-4433-01A-22D-1855-08 TCGA-05-4433-10A-01D-1855-08 Untested Somatic Phase_I WXS none Illumina GAIIx fab4f1ca-1605-4c30-8b3e-badb44eb6580 b4ea29e6-c7ca-4290-8efd-9bdb823edbee g.chr4:107846995G>A ENST00000285311.3 - 2 1039 c.334C>T c.(334-336)Cga>Tga p.R112* DKK2_ENST00000513208.1_Nonsense_Mutation_p.R12*|DKK2_ENST00000510463.1_Nonsense_Mutation_p.R66* NM_014421.2 NP_055236.1 Q9UBU2 DKK2_HUMAN dickkopf WNT signaling pathway inhibitor 2 112 DKK-type Cys-1. multicellular organismal development|negative regulation of canonical Wnt receptor signaling pathway|positive regulation of canonical Wnt receptor signaling pathway|Wnt receptor signaling pathway extracellular space p.R112*(1)|p.R112G(1) autonomic_ganglia(1)|breast(1)|endometrium(2)|large_intestine(7)|lung(10)|ovary(3)|pancreas(1)|prostate(3)|skin(2)|stomach(1)|upper_aerodigestive_tract(1) 32 Hepatocellular(203;0.217) OV - Ovarian serous cystadenocarcinoma(123;6.34e-06) ATGCCATCTCGGTGGCAGCGC 0.493000 8 209 0 0 0.006214 0 0 METTL14 57721 broad.mit.edu 37 4 119626806 119626806 + Missense_Mutation SNP G G T TCGA-05-4433-01A-22D-1855-08 TCGA-05-4433-10A-01D-1855-08 Untested Somatic Phase_I WXS none Illumina GAIIx fab4f1ca-1605-4c30-8b3e-badb44eb6580 b4ea29e6-c7ca-4290-8efd-9bdb823edbee g.chr4:119626806G>T ENST00000388822.4 + 10 1063 c.896G>T c.(895-897)aGc>aTc p.S299I METTL14_ENST00000506780.1_Missense_Mutation_p.S261I Q9HCE5 MTL14_HUMAN methyltransferase like 14 299 nucleus mRNA (2'-O-methyladenosine-N6-)-methyltransferase activity p.S299I(1) endometrium(3)|kidney(1)|large_intestine(3)|lung(5)|ovary(1)|prostate(2)|stomach(1) 16 GTGAAGCGTAGCACAGACGGG 0.373000 21 95 2.21704e-12 3.06162e-12 0.002780 1 0 MEFV 4210 broad.mit.edu 37 16 3304666 3304666 + Silent SNP C C T TCGA-05-4433-01A-22D-1855-08 TCGA-05-4433-10A-01D-1855-08 Untested Somatic Phase_I WXS none Illumina GAIIx fab4f1ca-1605-4c30-8b3e-badb44eb6580 b4ea29e6-c7ca-4290-8efd-9bdb823edbee g.chr16:3304666C>T ENST00000219596.1 - 2 441 c.402G>A c.(400-402)ccG>ccA p.P134P MEFV_ENST00000536379.1_Intron|MEFV_ENST00000339854.4_Intron|MEFV_ENST00000541159.1_Intron NM_000243.2 NP_000234.1 O15553 MEFV_HUMAN Mediterranean fever 134 inflammatory response cytoplasm|microtubule|microtubule associated complex|nucleus actin binding|zinc ion binding p.P134P(1) NS(2)|biliary_tract(1)|breast(5)|central_nervous_system(2)|endometrium(2)|kidney(3)|large_intestine(6)|lung(19)|ovary(3)|prostate(1)|skin(6) 50 Colchicine(DB01394) CGCCCCCGTACGGCCGAGGGC 0.697000 11 28 0 0 0.010729 0 0 CXCL6 6372 broad.mit.edu 37 4 74702790 74702790 + Silent SNP G G A TCGA-05-4433-01A-22D-1855-08 TCGA-05-4433-10A-01D-1855-08 Untested Somatic Phase_I WXS none Illumina GAIIx fab4f1ca-1605-4c30-8b3e-badb44eb6580 b4ea29e6-c7ca-4290-8efd-9bdb823edbee g.chr4:74702790G>A ENST00000226317.5 + 2 473 c.219G>A c.(217-219)ccG>ccA p.P73P CXCL6_ENST00000515050.1_Silent_p.P73P NM_002993.3 NP_002984.1 P80162 CXCL6_HUMAN chemokine (C-X-C motif) ligand 6 73 cell-cell signaling|chemotaxis|immune response|inflammatory response|signal transduction extracellular space chemokine activity|heparin binding p.P73P(1) large_intestine(1)|lung(7) 8 Breast(15;0.00102) all cancers(17;0.00176)|Lung(101;0.128)|LUSC - Lung squamous cell carcinoma(112;0.187) CCGCAGGCCCGCAGTGCTCCA 0.542000 4 76 0 0 0.009096 0 0 SLC50A1 55974 broad.mit.edu 37 1 155108457 155108457 + Missense_Mutation SNP T T G TCGA-05-4433-01A-22D-1855-08 TCGA-05-4433-10A-01D-1855-08 Untested Somatic Phase_I WXS none Illumina GAIIx fab4f1ca-1605-4c30-8b3e-badb44eb6580 b4ea29e6-c7ca-4290-8efd-9bdb823edbee g.chr1:155108457T>G ENST00000368404.4 + 1 132 c.70T>G c.(70-72)Tcc>Gcc p.S24A SLC50A1_ENST00000368401.5_Missense_Mutation_p.L10R|SLC50A1_ENST00000368405.3_3'UTR|SLC50A1_ENST00000303343.8_Missense_Mutation_p.S24A|SLC50A1_ENST00000484157.1_Intron NM_018845.3 NP_061333.2 Q9BRV3 SWET1_HUMAN solute carrier family 50 (sugar efflux transporter), member 1 24 MtN3/slv 1. positive regulation of gene expression, epigenetic Golgi membrane|integral to membrane|plasma membrane glucoside transmembrane transporter activity p.S24A(1) endometrium(1)|lung(1)|ovary(1)|skin(1) 4 TGGCATGTTCTCCGCCGGCCT 0.642000 9 37 0 0 0.010729 0 0 FBXO10 26267 broad.mit.edu 37 9 37541372 37541372 + Missense_Mutation SNP C C G TCGA-05-4433-01A-22D-1855-08 TCGA-05-4433-10A-01D-1855-08 Untested Somatic Phase_I WXS none Illumina GAIIx fab4f1ca-1605-4c30-8b3e-badb44eb6580 b4ea29e6-c7ca-4290-8efd-9bdb823edbee g.chr9:37541372C>G ENST00000432825.2 - 2 442 c.394G>C c.(394-396)Gac>Cac p.D132H FBXO10_ENST00000541829.1_Intron|RP11-613M10.8_ENST00000537239.2_3'UTR|RP11-613M10.8_ENST00000544475.1_5'UTR NM_012166.2 NP_036298.2 Q9UK96 FBX10_HUMAN F-box protein 10 132 ubiquitin ligase complex ubiquitin-protein ligase activity p.D132H(1) breast(1)|endometrium(5)|large_intestine(11)|lung(15)|prostate(1)|upper_aerodigestive_tract(1) 34 GBM - Glioblastoma multiforme(29;0.0107) ACAATTCGGTCATACAGGCTG 0.567000 34 109 0 0 0.012213 0 0 NRN1 51299 broad.mit.edu 37 6 6006965 6006965 + Silent SNP G G A rs144443923 TCGA-05-4433-01A-22D-1855-08 TCGA-05-4433-10A-01D-1855-08 Untested Somatic Phase_I WXS none Illumina GAIIx fab4f1ca-1605-4c30-8b3e-badb44eb6580 b4ea29e6-c7ca-4290-8efd-9bdb823edbee g.chr6:6006965G>A ENST00000244766.2 - 1 235 c.18C>T c.(16-18)aaC>aaT p.N6N NM_016588.2 NP_057672.1 Q9NPD7 NRN1_HUMAN neuritin 1 6 anchored to membrane|plasma membrane p.N6N(1) endometrium(2)|large_intestine(2)|lung(4) 8 Ovarian(93;0.0816) all_hematologic(90;0.151) OV - Ovarian serous cystadenocarcinoma(45;0.00415) TATATCTGCCGTTCAACTTAA 0.542000 34 119 0 0 0.003755 0 0 CLVS1 157807 broad.mit.edu 37 8 62371045 62371045 + Silent SNP C C T TCGA-05-4433-01A-22D-1855-08 TCGA-05-4433-10A-01D-1855-08 Untested Somatic Phase_I WXS none Illumina GAIIx fab4f1ca-1605-4c30-8b3e-badb44eb6580 b4ea29e6-c7ca-4290-8efd-9bdb823edbee g.chr8:62371045C>T ENST00000519846.1 + 6 1393 c.921C>T c.(919-921)caC>caT p.H307H CLVS1_ENST00000325897.4_Silent_p.H307H|CLVS1_ENST00000518592.1_Silent_p.H28H Q8IUQ0 CLVS1_HUMAN clavesin 1 307 lysosome organization clathrin-coated vesicle|early endosome membrane|trans-Golgi network phosphatidylinositol-3,5-bisphosphate binding|transporter activity p.H307H(1) endometrium(3)|kidney(4)|large_intestine(4)|lung(21)|ovary(1)|prostate(2)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1) 41 ATGCAATGCACGTGAAGCATA 0.512000 18 61 0 0 0.007413 0 0 CYP2A6 1548 broad.mit.edu 37 19 41351918 41351918 + Missense_Mutation SNP C C T TCGA-05-4433-01A-22D-1855-08 TCGA-05-4433-10A-01D-1855-08 Untested Somatic Phase_I WXS none Illumina GAIIx fab4f1ca-1605-4c30-8b3e-badb44eb6580 b4ea29e6-c7ca-4290-8efd-9bdb823edbee g.chr19:41351918C>T ENST00000301141.5 - 6 936 c.916G>A c.(916-918)Gtc>Atc p.V306I CTC-490E21.12_ENST00000601627.1_Intron NM_000762.5 NP_000753.3 P11509 CP2A6_HUMAN cytochrome P450, family 2, subfamily A, polypeptide 6 306 coumarin catabolic process|exogenous drug catabolic process|steroid metabolic process|xenobiotic metabolic process endoplasmic reticulum membrane|microsome aromatase activity|coumarin 7-hydroxylase activity|electron carrier activity|enzyme binding|heme binding p.V306I(1) breast(1)|central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(7)|lung(9)|ovary(3)|prostate(5)|skin(2)|upper_aerodigestive_tract(2) 37 LUSC - Lung squamous cell carcinoma(20;0.000219)|Lung(22;0.000959) Chlorzoxazone(DB00356)|Diethylstilbestrol(DB00255)|Estradiol(DB00783)|Ethinyl Estradiol(DB00977)|Formoterol(DB00983)|Halothane(DB01159)|Letrozole(DB01006)|Methoxsalen(DB00553)|Metyrapone(DB01011)|Nicotine(DB00184)|Pilocarpine(DB01085)|Tolbutamide(DB01124)|Tranylcypromine(DB00752) GTGGTGCTGACGGTCTCGGTG 0.597000 27 63 0 0 0.006320 0 0 PCSK6 5046 broad.mit.edu 37 15 101971641 101971641 + Missense_Mutation SNP G G A TCGA-05-4433-01A-22D-1855-08 TCGA-05-4433-10A-01D-1855-08 Untested Somatic Phase_I WXS none Illumina GAIIx fab4f1ca-1605-4c30-8b3e-badb44eb6580 b4ea29e6-c7ca-4290-8efd-9bdb823edbee g.chr15:101971641G>A ENST00000348070.1 - 5 537 c.538C>T c.(538-540)Cgg>Tgg p.R180W PCSK6_ENST00000331826.7_Missense_Mutation_p.R15W|PCSK6_ENST00000398181.2_Missense_Mutation_p.R180W|PCSK6_ENST00000344273.2_Missense_Mutation_p.R180W|PCSK6_ENST00000358417.3_Missense_Mutation_p.R180W|PCSK6_ENST00000561177.1_5'UTR NM_002570.3|NM_138320.1 NP_002561.1|NP_612193.1 P29122 PCSK6_HUMAN proprotein convertase subtilisin/kexin type 6 181 Catalytic. glycoprotein metabolic process|nerve growth factor processing|nerve growth factor production|nerve growth factor receptor signaling pathway|regulation of BMP signaling pathway|secretion by cell cell surface|endomembrane system|endoplasmic reticulum|extracellular matrix|extracellular space|Golgi lumen|membrane|soluble fraction eukaryotic cell surface binding|heparin binding|nerve growth factor binding|serine-type endopeptidase activity p.R180W(3)|p.R15W(1) breast(1)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(5)|lung(17)|pancreas(2)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 32 Lung NSC(78;0.00102)|all_lung(78;0.00128)|Melanoma(26;0.00505) OV - Ovarian serous cystadenocarcinoma(32;0.000803)|LUSC - Lung squamous cell carcinoma(107;0.187)|Lung(145;0.23) ATTTCCGACCGGCAGCGACTG 0.527000 11 18 0 0 0.010729 0 0 ANKRD36C 400986 broad.mit.edu 37 2 96521777 96521777 + Missense_Mutation SNP T T C rs77768218 TCGA-05-4433-01A-22D-1855-08 TCGA-05-4433-10A-01D-1855-08 Untested Somatic Phase_I WXS none Illumina GAIIx fab4f1ca-1605-4c30-8b3e-badb44eb6580 b4ea29e6-c7ca-4290-8efd-9bdb823edbee g.chr2:96521777T>C ENST00000456556.1 - 63 4316 c.4232A>G c.(4231-4233)cAt>cGt p.H1411R ANKRD36C_ENST00000420871.2_Missense_Mutation_p.H662R|ANKRD36C_ENST00000419039.2_Missense_Mutation_p.H438R ankyrin repeat domain 36C p.H662R(6)|p.H1411R(3) breast(1)|endometrium(8)|kidney(5)|lung(4) 18 AAGGTCTTCATGCTTTCTTTT 0.383000 3 48 0 0 0.009096 0 0 DNMT3B 1789 broad.mit.edu 37 20 31374365 31374365 + Missense_Mutation SNP C C T TCGA-05-4433-01A-22D-1855-08 TCGA-05-4433-10A-01D-1855-08 Untested Somatic Phase_I WXS none Illumina GAIIx fab4f1ca-1605-4c30-8b3e-badb44eb6580 b4ea29e6-c7ca-4290-8efd-9bdb823edbee g.chr20:31374365C>T ENST00000328111.2 + 5 685 c.364C>T c.(364-366)Cgt>Tgt p.R122C DNMT3B_ENST00000344505.4_Missense_Mutation_p.R122C|DNMT3B_ENST00000375623.4_Intron|DNMT3B_ENST00000201963.3_Missense_Mutation_p.R134C|DNMT3B_ENST00000353855.2_Missense_Mutation_p.R122C|DNMT3B_ENST00000348286.2_Missense_Mutation_p.R122C|DNMT3B_ENST00000443239.3_Intron|DNMT3B_ENST00000456297.2_Intron NM_006892.3 NP_008823.1 Q9UBC3 DNM3B_HUMAN DNA (cytosine-5-)-methyltransferase 3 beta 122 Interaction with DNMT1 and DNMT3A. negative regulation of histone H3-K9 methylation|positive regulation of gene expression|positive regulation of histone H3-K4 methylation metal ion binding|protein binding|transcription corepressor activity p.R134C(1)|p.R122C(1) endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|lung(16)|ovary(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 39 GCCTTCCCCACGTTCCACCCG 0.632000 16 58 0 0 0.006122 0 0 LOC645752 645752 broad.mit.edu 37 15 78211517 78211517 + RNA SNP C C G TCGA-05-4433-01A-22D-1855-08 TCGA-05-4433-10A-01D-1855-08 Untested Somatic Phase_I WXS none Illumina GAIIx fab4f1ca-1605-4c30-8b3e-badb44eb6580 b4ea29e6-c7ca-4290-8efd-9bdb823edbee g.chr15:78211517C>G ENST00000565869.1 + 0 111 RP11-114H24.2_ENST00000567226.1_RNA TTGCTCAGGACACTCAAGGCC 0.557000 4 317 0 0 0.009096 0 0 FSTL4 23105 broad.mit.edu 37 5 132736615 132736615 + Missense_Mutation SNP C C T TCGA-05-4433-01A-22D-1855-08 TCGA-05-4433-10A-01D-1855-08 Untested Somatic Phase_I WXS none Illumina GAIIx fab4f1ca-1605-4c30-8b3e-badb44eb6580 b4ea29e6-c7ca-4290-8efd-9bdb823edbee g.chr5:132736615C>T ENST00000265342.7 - 4 473 c.224G>A c.(223-225)cGg>cAg p.R75Q NM_015082.1 NP_055897.1 Q6MZW2 FSTL4_HUMAN follistatin-like 4 75 extracellular region calcium ion binding p.R75Q(1) autonomic_ganglia(1)|breast(2)|central_nervous_system(1)|endometrium(1)|kidney(3)|large_intestine(4)|lung(8)|skin(2)|upper_aerodigestive_tract(1) 23 all_cancers(142;0.244) KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365) GAGCACGCACCGGCTCCCTCG 0.612000 16 45 0 0 0.004007 0 0 KDM5B 10765 broad.mit.edu 37 1 202699065 202699065 + Missense_Mutation SNP G G C TCGA-05-4433-01A-22D-1855-08 TCGA-05-4433-10A-01D-1855-08 Untested Somatic Phase_I WXS none Illumina GAIIx fab4f1ca-1605-4c30-8b3e-badb44eb6580 b4ea29e6-c7ca-4290-8efd-9bdb823edbee g.chr1:202699065G>C ENST00000367265.3 - 26 5431 c.4267C>G c.(4267-4269)Cgg>Ggg p.R1423G KDM5B_ENST00000367264.2_Missense_Mutation_p.R1459G NM_006618.3 NP_006609.3 Q9UGL1 KDM5B_HUMAN lysine (K)-specific demethylase 5B 1423 negative regulation of transcription, DNA-dependent nucleolus DNA binding|histone demethylase activity (H3-dimethyl-K4 specific)|histone demethylase activity (H3-trimethyl-K4 specific)|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|protein binding|sequence-specific DNA binding transcription factor activity|transcription corepressor activity|zinc ion binding p.R1423G(1) breast(2)|ovary(2)|skin(1)|urinary_tract(1) 6 CGTTCCCACCGCTCACTGGAG 0.483000 41 116 0 0 0.005524 0 0 KRAS 3845 broad.mit.edu 37 12 25398284 25398284 + Missense_Mutation SNP C C A rs121913529 TCGA-05-4433-01A-22D-1855-08 TCGA-05-4433-10A-01D-1855-08 Untested Somatic Phase_I WXS none Illumina GAIIx fab4f1ca-1605-4c30-8b3e-badb44eb6580 b4ea29e6-c7ca-4290-8efd-9bdb823edbee g.chr12:25398284C>A ENST00000311936.3 - 2 226 c.35G>T c.(34-36)gGt>gTt p.G12V KRAS_ENST00000557334.1_Missense_Mutation_p.G12V|KRAS_ENST00000556131.1_Missense_Mutation_p.G12V|KRAS_ENST00000256078.4_Missense_Mutation_p.G12V NM_004985.3 NP_004976.2 P01116 RASK_HUMAN Kirsten rat sarcoma viral oncogene homolog 12 G -> A (in a colorectal cancer sample; somatic mutation).|G -> C (in lung carcinoma; somatic mutation).|G -> D (in pancreatic carcinoma, GASC and lung carcinoma; somatic mutation).|G -> R (in lung cancer and bladder cancer; somatic mutation).|G -> S (in lung carcinoma and GASC; somatic mutation).|G -> V (in lung carcinoma, pancreatic carcinoma, colon cancer and GASC; somatic mutation). activation of MAPKK activity|axon guidance|blood coagulation|epidermal growth factor receptor signaling pathway|insulin receptor signaling pathway|leukocyte migration|nerve growth factor receptor signaling pathway|Ras protein signal transduction plasma membrane GTP binding|GTPase activity|protein binding p.G12D(8562)|p.G12V(5775)|p.G12A(1407)|p.G12F(46)|p.G12L(8)|p.G12I(4)|p.G12E(3)|p.G12W(3)|p.G12Y(2)|p.G12fs*3(1)|p.G12C(1)|p.G12N(1) UBE2L3/KRAS(2) NS(6)|adrenal_gland(1)|autonomic_ganglia(3)|biliary_tract(532)|bone(2)|breast(32)|central_nervous_system(14)|cervix(50)|endometrium(411)|eye(4)|gastrointestinal_tract_(site_indeterminate)(7)|genital_tract(1)|haematopoietic_and_lymphoid_tissue(385)|kidney(8)|large_intestine(15267)|liver(29)|lung(3407)|oesophagus(16)|ovary(612)|pancreas(3739)|penis(1)|peritoneum(6)|prostate(96)|salivary_gland(6)|skin(45)|small_intestine(68)|soft_tissue(88)|stomach(207)|testis(17)|thymus(5)|thyroid(159)|upper_aerodigestive_tract(68)|urinary_tract(57) 25349 all_cancers(2;1e-35)|all_epithelial(2;1.97e-38)|all_lung(3;2.1e-23)|Lung NSC(3;1.16e-22)|Acute lymphoblastic leukemia(6;0.00231)|all_hematologic(7;0.00259)|Melanoma(3;0.0301)|Colorectal(261;0.11)|Ovarian(17;0.12) OV - Ovarian serous cystadenocarcinoma(3;1.23e-21)|Epithelial(3;1.31e-20)|all cancers(3;5.45e-18)|STAD - Stomach adenocarcinoma(2;2.68e-05) GCCTACGCCACCAGCTCCAAC 0.348000 G12A(KMS28BM_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12A(KPNSI9S_AUTONOMIC_GANGLIA)|G12A(MM1S_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12A(NCIH1573_LUNG)|G12A(NCIH2009_LUNG)|G12A(RERFLCAD1_LUNG)|G12A(RPMI8226_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12A(SW1116_LARGE_INTESTINE)|G12D(AGS_STOMACH)|G12D(ASPC1_PANCREAS)|G12D(COLO678_LARGE_INTESTINE)|G12D(HEC1A_ENDOMETRIUM)|G12D(HEC50B_ENDOMETRIUM)|G12D(HEYA8_OVARY)|G12D(HPAC_PANCREAS)|G12D(HPAFII_PANCREAS)|G12D(KARPAS620_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12D(KOPN8_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12D(KP4_PANCREAS)|G12D(L33_PANCREAS)|G12D(LS180_LARGE_INTESTINE)|G12D(LS513_LARGE_INTESTINE)|G12D(MCAS_OVARY)|G12D(PANC0203_PANCREAS)|G12D(PANC0403_PANCREAS)|G12D(PANC0504_PANCREAS)|G12D(PANC0813_PANCREAS)|G12D(PANC1_PANCREAS)|G12D(PK1_PANCREAS)|G12D(PK59_PANCREAS)|G12D(SKLU1_LUNG)|G12D(SNUC2A_LARGE_INTESTINE)|G12D(SU8686_PANCREAS)|G12D(SUIT2_PANCREAS)|G12D(SW1990_PANCREAS)|G12V(A498_KIDNEY)|G12V(CAPAN2_PANCREAS)|G12V(CFPAC1_PANCREAS)|G12V(COLO668_LUNG)|G12V(CORL23_LUNG)|G12V(DANG_PANCREAS)|G12V(HCC56_LARGE_INTESTINE)|G12V(HUPT4_PANCREAS)|G12V(KP3_PANCREAS)|G12V(LCLC97TM1_LUNG)|G12V(NCIH2444_LUNG)|G12V(NCIH441_LUNG)|G12V(NCIH727_LUNG)|G12V(PANC0327_PANCREAS)|G12V(PATU8902_PANCREAS)|G12V(PATU8988S_PANCREAS)|G12V(QGP1_PANCREAS)|G12V(RCM1_LARGE_INTESTINE)|G12V(RERFLCAD2_LUNG)|G12V(RKN_OVARY)|G12V(SH10TC_STOMACH)|G12V(SHP77_LUNG)|G12V(SNGM_ENDOMETRIUM)|G12V(SW403_LARGE_INTESTINE)|G12V(SW480_LARGE_INTESTINE)|G12V(SW620_LARGE_INTESTINE)|G12V(SW900_LUNG)|G12V(YAPC_PANCREAS) 119 Mis """pancreatic, colorectal, lung, thyroid, AML, others""" Noonan syndrome;Cardiofaciocutaneous syndrome TSP Lung(1;<1E-08)|Multiple Myeloma(2;<1E-6) 15 17 3.41278e-10 4.63925e-10 0.004990 1 0 NUP43 348995 broad.mit.edu 37 6 150057671 150057671 + Missense_Mutation SNP C C A TCGA-05-4433-01A-22D-1855-08 TCGA-05-4433-10A-01D-1855-08 Untested Somatic Phase_I WXS none Illumina GAIIx fab4f1ca-1605-4c30-8b3e-badb44eb6580 b4ea29e6-c7ca-4290-8efd-9bdb823edbee g.chr6:150057671C>A ENST00000340413.2 - 6 802 c.726G>T c.(724-726)ttG>ttT p.L242F NUP43_ENST00000460354.2_Missense_Mutation_p.L242F|NUP43_ENST00000367403.3_3'UTR|NUP43_ENST00000367404.4_Intron NM_198887.1 NP_942590.1 Q8NFH3 NUP43_HUMAN nucleoporin 43kDa 242 carbohydrate metabolic process|cell division|chromosome segregation|glucose transport|mitotic prometaphase|mRNA transport|protein transport|regulation of glucose transport|transmembrane transport|viral reproduction condensed chromosome kinetochore|cytosol|Nup107-160 complex protein binding p.L242F(1) breast(1)|large_intestine(2)|lung(8)|prostate(4)|upper_aerodigestive_tract(2)|urinary_tract(1) 18 Ovarian(120;0.0164) OV - Ovarian serous cystadenocarcinoma(155;4.71e-13)|GBM - Glioblastoma multiforme(68;0.101) CCCAAATACTCAACATTCCAT 0.443000 20 61 1.2644e-06 1.61769e-06 0.010504 1 0 NEDD8 4738 broad.mit.edu 37 14 24687421 24687421 + Splice_Site SNP C C T TCGA-05-4433-01A-22D-1855-08 TCGA-05-4433-10A-01D-1855-08 Untested Somatic Phase_I WXS none Illumina GAIIx fab4f1ca-1605-4c30-8b3e-badb44eb6580 b4ea29e6-c7ca-4290-8efd-9bdb823edbee g.chr14:24687421C>T ENST00000250495.5 - 3 253 c.66_splice c.e3-1 p.V23_splice NEDD8_ENST00000524927.1_Splice_Site_p.V23_splice|NEDD8-MDP1_ENST00000604306.1_5'UTR|NEDD8-MDP1_ENST00000534348.1_Splice_Site_p.V23_splice NM_006156.2 NP_006147.1 neural precursor cell expressed, developmentally down-regulated 8 p.V23M(1) breast(1)|central_nervous_system(1)|large_intestine(1)|lung(2) 5 GBM - Glioblastoma multiforme(265;0.0186) ATTCGCTCCACCTTTAGAGAG 0.517000 23 62 0 0 0.014323 0 0 DUOX2 50506 broad.mit.edu 37 15 45405197 45405197 + Missense_Mutation SNP G G A TCGA-05-4433-01A-22D-1855-08 TCGA-05-4433-10A-01D-1855-08 Untested Somatic Phase_I WXS none Illumina GAIIx fab4f1ca-1605-4c30-8b3e-badb44eb6580 b4ea29e6-c7ca-4290-8efd-9bdb823edbee g.chr15:45405197G>A ENST00000389039.6 - 3 533 c.148C>T c.(148-150)Cgt>Tgt p.R50C DUOX2_ENST00000603300.1_Missense_Mutation_p.R50C Q9NRD8 DUOX2_HUMAN dual oxidase 2 50 Peroxidase-like; mediates peroxidase activity (By similarity). cuticle development|cytokine-mediated signaling pathway|hormone biosynthetic process|hydrogen peroxide catabolic process|response to cAMP|response to virus apical plasma membrane|integral to membrane calcium ion binding|electron carrier activity|flavin adenine dinucleotide binding|heme binding|NAD(P)H oxidase activity|peroxidase activity p.R50C(1) NS(2)|breast(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|lung(28)|ovary(3)|pancreas(1)|prostate(4)|skin(7)|urinary_tract(1) 63 all_cancers(109;3.79e-11)|all_epithelial(112;2.92e-09)|Lung NSC(122;3.55e-06)|all_lung(180;2.56e-05)|Melanoma(134;0.027) all cancers(107;1.05e-18)|GBM - Glioblastoma multiforme(94;4.23e-07)|COAD - Colon adenocarcinoma(120;0.0668)|Colorectal(133;0.068) ACAGCACCACGCTCGTGGTGC 0.677000 15 42 0 0 0.004007 0 0 UBN1 29855 broad.mit.edu 37 16 4920917 4920917 + Silent SNP A A G TCGA-05-4433-01A-22D-1855-08 TCGA-05-4433-10A-01D-1855-08 Untested Somatic Phase_I WXS none Illumina GAIIx fab4f1ca-1605-4c30-8b3e-badb44eb6580 b4ea29e6-c7ca-4290-8efd-9bdb823edbee g.chr16:4920917A>G ENST00000396658.4 + 10 2206 c.1503A>G c.(1501-1503)aaA>aaG p.K501K UBN1_ENST00000545171.1_Silent_p.K501K|UBN1_ENST00000262376.6_Silent_p.K501K|UBN1_ENST00000590769.1_Silent_p.K501K NM_016936.3 NP_058632.2 Q9NPG3 UBN1_HUMAN ubinuclein 1 501 chromatin modification|interspecies interaction between organisms|regulation of transcription from RNA polymerase II promoter PML body|tight junction DNA binding|sequence-specific DNA binding transcription factor activity p.K501K(1) NS(1)|endometrium(6)|kidney(4)|large_intestine(10)|lung(12)|prostate(1)|skin(3)|upper_aerodigestive_tract(1) 38 ATGAAGAAAAAGGGGGCAGGA 0.522000 3 61 0 0 0.004672 0 0 NDUFV1 4723 broad.mit.edu 37 11 67378532 67378532 + Missense_Mutation SNP G G A TCGA-05-4433-01A-22D-1855-08 TCGA-05-4433-10A-01D-1855-08 Untested Somatic Phase_I WXS none Illumina GAIIx fab4f1ca-1605-4c30-8b3e-badb44eb6580 b4ea29e6-c7ca-4290-8efd-9bdb823edbee g.chr11:67378532G>A ENST00000322776.6 + 6 920 c.767G>A c.(766-768)cGc>cAc p.R256H NDUFV1_ENST00000532303.1_Missense_Mutation_p.R155H|NDUFV1_ENST00000526169.1_3'UTR|NDUFV1_ENST00000415352.2_Missense_Mutation_p.R249H|NDUFV1_ENST00000529927.1_Missense_Mutation_p.R247H NM_001166102.1|NM_007103.3 NP_001159574.1|NP_009034.2 P49821 NDUV1_HUMAN NADH dehydrogenase (ubiquinone) flavoprotein 1, 51kDa 256 mitochondrial electron transport, NADH to ubiquinone|transport mitochondrial respiratory chain complex I 4 iron, 4 sulfur cluster binding|FMN binding|metal ion binding|NAD binding|NADH dehydrogenase (ubiquinone) activity p.R256H(1) breast(1)|endometrium(3)|large_intestine(2)|lung(7)|prostate(1)|skin(2) 16 NADH(DB00157) ACAATCTGCCGCCGTGGAGGT 0.562000 18 64 0 0 0.006122 0 0 EIF2AK4 440275 broad.mit.edu 37 15 40284374 40284374 + Splice_Site SNP A A G TCGA-05-4433-01A-22D-1855-08 TCGA-05-4433-10A-01D-1855-08 Untested Somatic Phase_I WXS none Illumina GAIIx fab4f1ca-1605-4c30-8b3e-badb44eb6580 b4ea29e6-c7ca-4290-8efd-9bdb823edbee g.chr15:40284374A>G ENST00000263791.5 + 17 2674 c.e17-1 EIF2AK4_ENST00000382727.2_Splice_Site NM_001013703.2 NP_001013725.2 Q9P2K8 E2AK4_HUMAN eukaryotic translation initiation factor 2 alpha kinase 4 translation cytosolic ribosome aminoacyl-tRNA ligase activity|ATP binding|eukaryotic translation initiation factor 2alpha kinase activity|protein homodimerization activity p.?(1) NS(1)|breast(2)|endometrium(1)|kidney(3)|large_intestine(8)|lung(18)|ovary(1)|prostate(3)|skin(2)|stomach(1) 40 all_cancers(109;1.05e-19)|all_epithelial(112;4.38e-17)|Lung NSC(122;1.09e-12)|all_lung(180;3.56e-11)|Melanoma(134;0.0575)|Ovarian(310;0.0826)|Colorectal(260;0.119) GBM - Glioblastoma multiforme(113;5.31e-07)|BRCA - Breast invasive adenocarcinoma(123;0.0616) TTATATTTTTAGGCTGACAGC 0.353000 3 73 0 0 0.004672 0 0 USH2A 7399 broad.mit.edu 37 1 215823979 215823979 + Silent SNP A A G TCGA-05-4433-01A-22D-1855-08 TCGA-05-4433-10A-01D-1855-08 Untested Somatic Phase_I WXS none Illumina GAIIx fab4f1ca-1605-4c30-8b3e-badb44eb6580 b4ea29e6-c7ca-4290-8efd-9bdb823edbee g.chr1:215823979A>G ENST00000366943.2 - 65 14684 c.14298T>C c.(14296-14298)agT>agC p.S4766S USH2A_ENST00000307340.3_Silent_p.S4766S O75445 USH2A_HUMAN Usher syndrome 2A (autosomal recessive, mild) 4766 Fibronectin type-III 33. maintenance of organ identity|photoreceptor cell maintenance|response to stimulus|sensory perception of sound basement membrane|cytoplasm|integral to membrane|stereocilium membrane collagen binding p.S4766S(1) NS(7)|breast(20)|central_nervous_system(3)|cervix(2)|endometrium(32)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(71)|liver(2)|lung(282)|ovary(25)|pancreas(2)|prostate(12)|skin(22)|stomach(7)|upper_aerodigestive_tract(20)|urinary_tract(3) 527 OV - Ovarian serous cystadenocarcinoma(81;0.0547)|all cancers(67;0.0875) GCCTGTAGAGACTGACGATCC 0.532000 HNSCC(13;0.011) 28 82 0 0 0.007291 0 0 COL4A2 1284 broad.mit.edu 37 13 111154090 111154090 + Missense_Mutation SNP C C T TCGA-05-4433-01A-22D-1855-08 TCGA-05-4433-10A-01D-1855-08 Untested Somatic Phase_I WXS none Illumina GAIIx fab4f1ca-1605-4c30-8b3e-badb44eb6580 b4ea29e6-c7ca-4290-8efd-9bdb823edbee g.chr13:111154090C>T ENST00000360467.5 + 41 4142 c.3836C>T c.(3835-3837)gCa>gTa p.A1279V NM_001846.2 NP_001837.2 P08572 CO4A2_HUMAN collagen, type IV, alpha 2 1279 Triple-helical region. angiogenesis|axon guidance|extracellular matrix organization|negative regulation of angiogenesis collagen type IV extracellular matrix structural constituent|protein binding p.A1279V(1) NS(1)|central_nervous_system(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(4)|liver(2)|lung(48)|ovary(1)|prostate(3)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(1) 80 all_cancers(4;2.21e-12)|all_epithelial(4;2.63e-07)|all_lung(23;5.81e-06)|Lung NSC(43;0.000274)|Colorectal(4;0.00323)|all_neural(89;0.0565)|Lung SC(71;0.0753)|Medulloblastoma(90;0.0922) Breast(118;0.212) BRCA - Breast invasive adenocarcinoma(86;0.11)|all cancers(43;0.151) ATCTCTGGGGCACCTGGTGAC 0.547000 13 42 0 0 0.004990 0 0 MORC3 23515 broad.mit.edu 37 21 37741350 37741350 + Missense_Mutation SNP C C G TCGA-05-4433-01A-22D-1855-08 TCGA-05-4433-10A-01D-1855-08 Untested Somatic Phase_I WXS none Illumina GAIIx fab4f1ca-1605-4c30-8b3e-badb44eb6580 b4ea29e6-c7ca-4290-8efd-9bdb823edbee g.chr21:37741350C>G ENST00000400485.1 + 15 1760 c.1684C>G c.(1684-1686)Cag>Gag p.Q562E MORC3_ENST00000487909.1_3'UTR NM_015358.2 NP_056173.1 Q14149 MORC3_HUMAN MORC family CW-type zinc finger 3 562 cell aging|maintenance of protein location in nucleus|negative regulation of fibroblast proliferation|peptidyl-serine phosphorylation|protein stabilization aggresome|intermediate filament cytoskeleton|PML body ATP binding|zinc ion binding p.Q562E(1) breast(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(7)|lung(9)|ovary(2)|prostate(3)|upper_aerodigestive_tract(1)|urinary_tract(2) 35 ATTGAGTAGTCAGTTTGAAAA 0.323000 3 39 0 0 0.004672 0 0 UBFD1 56061 broad.mit.edu 37 16 23569456 23569456 + Missense_Mutation SNP G G A TCGA-05-4433-01A-22D-1855-08 TCGA-05-4433-10A-01D-1855-08 Untested Somatic Phase_I WXS none Illumina GAIIx fab4f1ca-1605-4c30-8b3e-badb44eb6580 b4ea29e6-c7ca-4290-8efd-9bdb823edbee g.chr16:23569456G>A ENST00000395878.3 + 2 592 c.211G>A c.(211-213)Gtc>Atc p.V71I UBFD1_ENST00000571064.1_3'UTR|UBFD1_ENST00000567264.1_Missense_Mutation_p.V71I|UBFD1_ENST00000219638.4_Missense_Mutation_p.V295I|UBFD1_ENST00000567212.1_Missense_Mutation_p.V62I NM_019116.2 NP_061989.2 O14562 UBFD1_HUMAN ubiquitin family domain containing 1 71 p.V71I(1) endometrium(1)|kidney(1)|large_intestine(2)|lung(3) 7 GBM - Glioblastoma multiforme(48;0.0331) CCAGGCCTCGGTCAGCAACGG 0.731000 18 29 0 0 0.008871 0 0 PWWP2B 170394 broad.mit.edu 37 10 134218307 134218307 + Silent SNP A A C TCGA-05-4433-01A-22D-1855-08 TCGA-05-4433-10A-01D-1855-08 Untested Somatic Phase_I WXS none Illumina GAIIx fab4f1ca-1605-4c30-8b3e-badb44eb6580 b4ea29e6-c7ca-4290-8efd-9bdb823edbee g.chr10:134218307A>C ENST00000305233.5 + 2 362 c.303A>C c.(301-303)ccA>ccC p.P101P PWWP2B_ENST00000368609.4_Silent_p.P101P NM_138499.3 NP_612508.3 Q6NUJ5 PWP2B_HUMAN PWWP domain containing 2B 101 Pro-rich. p.P101P(1) central_nervous_system(1)|endometrium(1)|large_intestine(1)|lung(5)|urinary_tract(1) 9 all_cancers(35;6.69e-12)|all_epithelial(44;1.55e-08)|Lung NSC(174;0.000845)|all_lung(145;0.00144)|all_neural(114;0.0299)|Breast(234;0.106)|Colorectal(31;0.109)|Melanoma(40;0.123)|Glioma(114;0.203)|all_hematologic(284;0.224) OV - Ovarian serous cystadenocarcinoma(35;7.49e-05)|Epithelial(32;0.00016)|all cancers(32;0.000186) GCCCCGAGCCACCCCCGCCCC 0.756000 5 5 0 0 0.001984 0 0 XRN1 54464 broad.mit.edu 37 3 142137373 142137373 + Missense_Mutation SNP G G A TCGA-05-4433-01A-22D-1855-08 TCGA-05-4433-10A-01D-1855-08 Untested Somatic Phase_I WXS none Illumina GAIIx fab4f1ca-1605-4c30-8b3e-badb44eb6580 b4ea29e6-c7ca-4290-8efd-9bdb823edbee g.chr3:142137373G>A ENST00000264951.4 - 12 1436 c.1319C>T c.(1318-1320)aCg>aTg p.T440M XRN1_ENST00000463916.1_Missense_Mutation_p.T440M|XRN1_ENST00000392981.2_Missense_Mutation_p.T440M|XRN1_ENST00000544157.1_Missense_Mutation_p.T230M NM_019001.3 NP_061874.3 Q8IZH2 XRN1_HUMAN 5'-3' exoribonuclease 1 440 exonucleolytic nuclear-transcribed mRNA catabolic process involved in deadenylation-dependent decay|histone mRNA catabolic process|nuclear mRNA surveillance|rRNA catabolic process cytosol|Golgi apparatus|intermediate filament cytoskeleton|plasma membrane 5'-3' exonuclease activity|DNA binding|protein binding|RNA binding p.T440M(1) NS(1)|breast(3)|endometrium(6)|kidney(12)|large_intestine(11)|liver(1)|lung(17)|ovary(3)|prostate(2)|skin(3)|upper_aerodigestive_tract(2) 61 CCCCATCTTCGTCATGTAATA 0.299000 14 52 0 0 0.004007 0 0 TBP 6908 broad.mit.edu 37 6 170871082 170871082 + Silent SNP G G A TCGA-05-4433-01A-22D-1855-08 TCGA-05-4433-10A-01D-1855-08 Untested Somatic Phase_I WXS none Illumina GAIIx fab4f1ca-1605-4c30-8b3e-badb44eb6580 b4ea29e6-c7ca-4290-8efd-9bdb823edbee g.chr6:170871082G>A ENST00000392092.2 + 3 537 c.258G>A c.(256-258)caG>caA p.Q86Q TBP_ENST00000230354.6_Silent_p.Q86Q|TBP_ENST00000540980.1_Silent_p.Q66Q NM_003194.4 NP_003185.1 P20226 TBP_HUMAN TATA box binding protein 86 Poly-Gln. cell death|interspecies interaction between organisms|transcription elongation from RNA polymerase II promoter|transcription from RNA polymerase III promoter|viral reproduction transcription factor TFIIA complex|transcription factor TFIID complex repressing transcription factor binding|transcription regulatory region DNA binding p.Q86Q(2) breast(2)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(2)|lung(9)|ovary(1)|prostate(4)|urinary_tract(1) 26 Breast(66;5.08e-05)|Ovarian(120;0.125)|Esophageal squamous(34;0.246) OV - Ovarian serous cystadenocarcinoma(33;1.07e-22)|BRCA - Breast invasive adenocarcinoma(81;5.01e-06)|GBM - Glioblastoma multiforme(31;0.00591) agcagcagcagcagcagcagc 0.612000 3 31 0 0 0.009096 0 0 MYH7B 57644 broad.mit.edu 37 20 33570262 33570262 + Splice_Site SNP C C T TCGA-05-4433-01A-22D-1855-08 TCGA-05-4433-10A-01D-1855-08 Untested Somatic Phase_I WXS none Illumina GAIIx fab4f1ca-1605-4c30-8b3e-badb44eb6580 b4ea29e6-c7ca-4290-8efd-9bdb823edbee g.chr20:33570262C>T ENST00000262873.7 + 8 746 c.653_splice c.e8-1 p.T218_splice NM_020884.3 NP_065935.2 A7E2Y1 MYH7B_HUMAN myosin, heavy chain 7B, cardiac muscle, beta 176 Myosin head-like. membrane|myosin filament actin binding|ATP binding|motor activity p.T218T(1) NS(2)|breast(5)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(8)|lung(19)|ovary(5)|prostate(3)|upper_aerodigestive_tract(2)|urinary_tract(3) 54 BRCA - Breast invasive adenocarcinoma(18;0.00691) GTCGTCCAAGCGGAGAGTCGG 0.602000 8 26 0 0 0.004482 0 0 LRRC37A4P 55073 broad.mit.edu 37 17 43587569 43587569 + RNA SNP G G C rs149697015 by1000genomes TCGA-05-4433-01A-22D-1855-08 TCGA-05-4433-10A-01D-1855-08 Untested Somatic Phase_I WXS none Illumina GAIIx fab4f1ca-1605-4c30-8b3e-badb44eb6580 b4ea29e6-c7ca-4290-8efd-9bdb823edbee g.chr17:43587569G>C ENST00000253803.2 + 0 267 LRRC37A4P_ENST00000579913.1_RNA aactccgtctgaaaagaaaag 0.443000 4 38 0 0 0.009096 0 0 TMEM52 339456 broad.mit.edu 37 1 1850628 1850636 + In_Frame_Del DEL AGCGGCAGG AGCGGCAGG - TCGA-05-4433-01A-22D-1855-08 TCGA-05-4433-10A-01D-1855-08 Untested Somatic Phase_I WXS none Illumina GAIIx fab4f1ca-1605-4c30-8b3e-badb44eb6580 b4ea29e6-c7ca-4290-8efd-9bdb823edbee g.chr1:1850628_1850636delAGCGGCAGG ENST00000310991.3 - 1 76_84 c.69_77delCCTGCCGCT c.(67-78)ctg>ct p.LLPL23del NM_178545.3 NP_848640.1 Q8NDY8 TMM52_HUMAN transmembrane protein 52 23 integral to membrane NS(1)|prostate(1)|stomach(1) 3 all_cancers(77;0.000708)|all_epithelial(69;0.000943)|all_lung(157;0.00963)|Lung NSC(156;0.0232)|Ovarian(185;0.0634) all_epithelial(116;6.04e-15)|all_lung(118;9.67e-07)|Lung NSC(185;5.59e-05)|Renal(390;0.00571)|Breast(487;0.0183)|Hepatocellular(190;0.0268)|Myeloproliferative disorder(586;0.028)|Ovarian(437;0.127)|Medulloblastoma(700;0.151)|Lung SC(97;0.217) Epithelial(90;1.82e-37)|OV - Ovarian serous cystadenocarcinoma(86;2.75e-23)|GBM - Glioblastoma multiforme(42;9e-08)|Colorectal(212;3.94e-05)|COAD - Colon adenocarcinoma(227;0.000193)|Kidney(185;0.00227)|BRCA - Breast invasive adenocarcinoma(365;0.00435)|STAD - Stomach adenocarcinoma(132;0.00644)|KIRC - Kidney renal clear cell carcinoma(229;0.0339)|Lung(427;0.199) CACCTgcggcagcggcaggagcggcagga 0.766 4 7 --- --- --- --- ZSWIM8 23053 broad.mit.edu 37 10 75550806 75550807 + Frame_Shift_Ins INS - - T TCGA-05-4433-01A-22D-1855-08 TCGA-05-4433-10A-01D-1855-08 Untested Somatic Phase_I WXS none Illumina GAIIx fab4f1ca-1605-4c30-8b3e-badb44eb6580 b4ea29e6-c7ca-4290-8efd-9bdb823edbee g.chr10:75550806_75550807insT ENST00000604729.1 + 8 1312_1313 c.1015_1016insT c.(1015-1017)gagfs p.E339fs ZSWIM8_ENST00000603114.1_Frame_Shift_Ins_p.E339fs|ZSWIM8_ENST00000398706.2_Frame_Shift_Ins_p.E339fs|ZSWIM8_ENST00000605216.1_Frame_Shift_Ins_p.E339fs|ZSWIM8_ENST00000604524.1_Frame_Shift_Ins_p.E339fs zinc finger, SWIM-type containing 8 GCTGCGCCCTCTGAGGGGCCGT 0.569 35 85 --- --- --- --- NKX2-1 7080 broad.mit.edu 37 14 36988339 36988340 + Frame_Shift_Ins INS - - C TCGA-05-4433-01A-22D-1855-08 TCGA-05-4433-10A-01D-1855-08 Untested Somatic Phase_I WXS none Illumina GAIIx fab4f1ca-1605-4c30-8b3e-badb44eb6580 b4ea29e6-c7ca-4290-8efd-9bdb823edbee g.chr14:36988339_36988340insC ENST00000518149.1 - 2 828_829 c.223_224insG c.(223-225)gccfs p.A75fs NKX2-1_ENST00000522719.2_Frame_Shift_Ins_p.A75fs|RP11-896J10.3_ENST00000521945.1_RNA|NKX2-1_ENST00000498187.2_Frame_Shift_Ins_p.A75fs|NKX2-1_ENST00000354822.5_Frame_Shift_Ins_p.A105fs P43699 NKX21_HUMAN NK2 homeobox 1 75 epithelial tube branching involved in lung morphogenesis|globus pallidus development|negative regulation of cell migration|negative regulation of epithelial to mesenchymal transition|negative regulation of transforming growth factor beta receptor signaling pathway|positive regulation of transcription from RNA polymerase II promoter|response to hormone stimulus|thyroid gland development protein binding|transcription regulatory region DNA binding large_intestine(1)|lung(3)|skin(1)|upper_aerodigestive_tract(2) 7 all_cancers(3;4.47e-51)|Hepatocellular(127;0.158)|Esophageal squamous(585;0.164)|Breast(36;0.165) Lung(8;1.8e-08)|LUAD - Lung adenocarcinoma(9;2.16e-07)|Epithelial(34;0.014)|all cancers(34;0.0366)|LUSC - Lung squamous cell carcinoma(13;0.132) GBM - Glioblastoma multiforme(112;0.0171) GAGCTGGGGCACCCCCGCCGCC 0.723 A NSCLC 9 27 --- --- --- --- SNHG14 104472715 broad.mit.edu 37 15 25299375 25299376 + RNA INS - - A TCGA-05-4433-01A-22D-1855-08 TCGA-05-4433-10A-01D-1855-08 Untested Somatic Phase_I WXS none Illumina GAIIx fab4f1ca-1605-4c30-8b3e-badb44eb6580 b4ea29e6-c7ca-4290-8efd-9bdb823edbee g.chr15:25299375_25299376insA ENST00000549804.2 + 0 98 SNORD116-2_ENST00000384274.1_RNA|SNHG14_ENST00000547292.1_RNA GATGAGTCCCCAAAAAAAACAT 0.495 7 223 --- --- --- --- HERC2P9 440248 broad.mit.edu 37 15 28900331 28900331 + RNA DEL A A - TCGA-05-4433-01A-22D-1855-08 TCGA-05-4433-10A-01D-1855-08 Untested Somatic Phase_I WXS none Illumina GAIIx fab4f1ca-1605-4c30-8b3e-badb44eb6580 b4ea29e6-c7ca-4290-8efd-9bdb823edbee g.chr15:28900331delA ENST00000528584.1 + 0 14 NR_036443.1 actctgtctcaaaaaaaaaaa 0.413 5 6 --- --- --- --- DNM1P47 100216544 broad.mit.edu 37 15 102293062 102293064 + RNA DEL CTC CTC - rs4965539 TCGA-05-4433-01A-22D-1855-08 TCGA-05-4433-10A-01D-1855-08 Untested Somatic Phase_I WXS none Illumina GAIIx fab4f1ca-1605-4c30-8b3e-badb44eb6580 b4ea29e6-c7ca-4290-8efd-9bdb823edbee g.chr15:102293062_102293064delCTC ENST00000561463.1 + 0 1108_1110 AGTTCATCTTCTCAGAGCTGCTG 0.576 3 5 --- --- --- --- SLC7A6 9057 broad.mit.edu 37 16 68330539 68330539 + Frame_Shift_Del DEL T T - TCGA-05-4433-01A-22D-1855-08 TCGA-05-4433-10A-01D-1855-08 Untested Somatic Phase_I WXS none Illumina GAIIx fab4f1ca-1605-4c30-8b3e-badb44eb6580 b4ea29e6-c7ca-4290-8efd-9bdb823edbee g.chr16:68330539delT ENST00000566454.1 + 11 1548 c.1279delT c.(1279-1281)ttfs p.F428fs SLC7A6_ENST00000219343.6_Frame_Shift_Del_p.F428fs NM_001076785.2 NP_001070253.1 Q92536 YLAT2_HUMAN solute carrier family 7 (amino acid transporter light chain, y+L system), member 6 428 blood coagulation|cellular amino acid metabolic process|ion transport|leukocyte migration|protein complex assembly basolateral plasma membrane|integral to plasma membrane amino acid transmembrane transporter activity|antiporter activity breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(4)|prostate(1)|skin(1) 16 Ovarian(137;0.0563) OV - Ovarian serous cystadenocarcinoma(108;0.034)|Epithelial(162;0.0948) GCTGAGCGTGTTTTTCCCCAT 0.522 8 382 --- --- --- --- ADGRE4P 326342 broad.mit.edu 37 19 6967896 6967896 + RNA DEL G G - rs147408320 by1000genomes TCGA-05-4433-01A-22D-1855-08 TCGA-05-4433-10A-01D-1855-08 Untested Somatic Phase_I WXS none Illumina GAIIx fab4f1ca-1605-4c30-8b3e-badb44eb6580 b4ea29e6-c7ca-4290-8efd-9bdb823edbee g.chr19:6967896delG ENST00000600751.1 - 0 1241 NR_024075.1 tccctctaccgcctccttcct 0.478 2 4 --- --- --- --- JAG1 182 broad.mit.edu 37 20 10637059 10637060 + Frame_Shift_Ins INS - - GA TCGA-05-4433-01A-22D-1855-08 TCGA-05-4433-10A-01D-1855-08 Untested Somatic Phase_I WXS none Illumina GAIIx fab4f1ca-1605-4c30-8b3e-badb44eb6580 b4ea29e6-c7ca-4290-8efd-9bdb823edbee g.chr20:10637059_10637060insGA ENST00000254958.5 - 5 1256_1257 c.741_742insTC c.(739-744)ctcaggfs p.R248fs JAG1_ENST00000423891.2_Frame_Shift_Ins_p.R89fs NM_000214.2 NP_000205.1 P78504 JAG1_HUMAN jagged 1 248 EGF-like 1. angiogenesis|cell communication|cell fate determination|endothelial cell differentiation|hemopoiesis|keratinocyte differentiation|myoblast differentiation|Notch receptor processing|Notch signaling pathway|regulation of cell migration|regulation of cell proliferation extracellular region|integral to plasma membrane calcium ion binding|growth factor activity|Notch binding|structural molecule activity biliary_tract(1)|breast(2)|central_nervous_system(3)|cervix(1)|endometrium(6)|kidney(3)|large_intestine(10)|lung(14)|ovary(2)|pancreas(1)|urinary_tract(1) 44 CAGTCACCTGGGAGTTTGCAAG 0.441 Alagille Syndrome 22 71 --- --- --- ---