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 GRIN2A 2903 broad.mit.edu 37 16 9858195 9858195 + Missense_Mutation SNP G G A TCGA-44-5645-01A-01D-1625-08 TCGA-44-5645-10A-01D-1625-08 Untested Somatic Phase_I WXS none Illumina GAIIx dac33765-0c88-4a51-8389-c042ccb78c83 7f4b8638-3af7-4e03-b4c3-0a46afb3e2f7 g.chr16:9858195G>A ENST00000396573.2 - 14 3515 c.3206C>T c.(3205-3207)aCg>aTg p.T1069M GRIN2A_ENST00000562109.1_Missense_Mutation_p.T1069M|GRIN2A_ENST00000404927.2_Missense_Mutation_p.T1069M|GRIN2A_ENST00000535259.1_Missense_Mutation_p.T912M|GRIN2A_ENST00000330684.3_Missense_Mutation_p.T1069M|GRIN2A_ENST00000396575.2_Missense_Mutation_p.T1069M NM_000833.3 NP_000824.1 Q12879 NMDE1_HUMAN glutamate receptor, ionotropic, N-methyl D-aspartate 2A 1069 response to ethanol cell junction|N-methyl-D-aspartate selective glutamate receptor complex|outer membrane-bounded periplasmic space|postsynaptic membrane N-methyl-D-aspartate selective glutamate receptor activity|zinc ion binding p.T1069M(1) NS(7)|breast(5)|cervix(1)|endometrium(11)|kidney(6)|large_intestine(36)|lung(71)|ovary(4)|prostate(9)|skin(45)|upper_aerodigestive_tract(2)|urinary_tract(1) 198 Felbamate(DB00949)|Glycine(DB00145)|L-Glutamic Acid(DB00142)|Loperamide(DB00836)|Memantine(DB01043) CCTGTGGCACGTGGCCCGATT 0.502000 28 104 0 0 0.681144 0 0 DEFB121 245934 broad.mit.edu 37 20 29992817 29992817 + Missense_Mutation SNP A A G TCGA-44-5645-01A-01D-1625-08 TCGA-44-5645-10A-01D-1625-08 Untested Somatic Phase_I WXS none Illumina GAIIx dac33765-0c88-4a51-8389-c042ccb78c83 7f4b8638-3af7-4e03-b4c3-0a46afb3e2f7 g.chr20:29992817A>G ENST00000376314.2 - 2 243 c.130T>C c.(130-132)Tgc>Cgc p.C44R DEFB121_ENST00000376312.3_5'UTR NM_001011878.2 NP_001011878.1 Q5J5C9 DB121_HUMAN defensin, beta 121 44 defense response to bacterium extracellular region p.C44R(1) large_intestine(1)|lung(1) 2 all_hematologic(12;0.158) Colorectal(19;0.00254)|COAD - Colon adenocarcinoma(19;0.0347) TCAGTTTTGCATAATATATAG 0.388000 18 84 0 0 0.520397 0 0 NBPF10 100132406 broad.mit.edu 37 1 145302714 145302714 + Silent SNP A A G rs9424867 TCGA-44-5645-01A-01D-1625-08 TCGA-44-5645-10A-01D-1625-08 Untested Somatic Phase_I WXS none Illumina GAIIx dac33765-0c88-4a51-8389-c042ccb78c83 7f4b8638-3af7-4e03-b4c3-0a46afb3e2f7 g.chr1:145302714A>G ENST00000342960.5 + 8 1187 c.1152A>G c.(1150-1152)ttA>ttG p.L384L NBPF10_ENST00000369338.1_Silent_p.L113L|NBPF10_ENST00000369339.2_Silent_p.L113L|RP11-458D21.5_ENST00000468030.1_3'UTR NM_001039703.4 NP_001034792.4 A6NDV3 A6NDV3_HUMAN neuroblastoma breakpoint family, member 10 384 p.L113L(3)|p.L384L(3) NS(3)|breast(1)|central_nervous_system(3)|endometrium(12)|kidney(23)|lung(15)|ovary(1)|prostate(7)|skin(6)|urinary_tract(2) 73 all_hematologic(923;0.032) Colorectal(1306;1.36e-07)|KIRC - Kidney renal clear cell carcinoma(1967;0.00258) AGGAGAAGTTACGGGAAGGGA 0.527000 4 130 0 0 0.184627 0 0 TENM2 57451 broad.mit.edu 37 5 167642247 167642247 + Missense_Mutation SNP G G T TCGA-44-5645-01A-01D-1625-08 TCGA-44-5645-10A-01D-1625-08 Untested Somatic Phase_I WXS none Illumina GAIIx dac33765-0c88-4a51-8389-c042ccb78c83 7f4b8638-3af7-4e03-b4c3-0a46afb3e2f7 g.chr5:167642247G>T ENST00000519204.1 + 20 3803 c.3685G>T c.(3685-3687)Gcc>Tcc p.A1229S TENM2_ENST00000520394.1_Missense_Mutation_p.A1111S|TENM2_ENST00000545108.1_Missense_Mutation_p.A1349S|TENM2_ENST00000403607.2_Missense_Mutation_p.A1174S|TENM2_ENST00000518659.1_Missense_Mutation_p.A1350S teneurin transmembrane protein 2 p.A1229S(1)|p.A1183S(1)|p.A1350S(1) TGGAGGGAAGGCCATAGATGC 0.557000 3 60 0.004672 0.00498347 0.115264 1 0 TGIF2LX 90316 broad.mit.edu 37 X 89177431 89177431 + Missense_Mutation SNP G G A TCGA-44-5645-01A-01D-1625-08 TCGA-44-5645-10A-01D-1625-08 Untested Somatic Phase_I WXS none Illumina GAIIx dac33765-0c88-4a51-8389-c042ccb78c83 7f4b8638-3af7-4e03-b4c3-0a46afb3e2f7 g.chrX:89177431G>A ENST00000561129.2 + 1 477 c.347G>A c.(346-348)cGt>cAt p.R116H TGIF2LX_ENST00000283891.5_Missense_Mutation_p.R116H Q8IUE1 TF2LX_HUMAN TGFB-induced factor homeobox 2-like, X-linked 116 nucleus sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity p.R116H(1) central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(29)|ovary(1)|skin(3)|urinary_tract(1) 40 CTTCAACAGCGTAGAAACGAC 0.522000 25 78 0 0 0.769981 0 0 CYFIP2 26999 broad.mit.edu 37 5 156787321 156787321 + Missense_Mutation SNP C C T TCGA-44-5645-01A-01D-1625-08 TCGA-44-5645-10A-01D-1625-08 Untested Somatic Phase_I WXS none Illumina GAIIx dac33765-0c88-4a51-8389-c042ccb78c83 7f4b8638-3af7-4e03-b4c3-0a46afb3e2f7 g.chr5:156787321C>T ENST00000347377.6 + 25 3280 c.2849C>T c.(2848-2850)aCa>aTa p.T950I CYFIP2_ENST00000442283.2_3'UTR|CYFIP2_ENST00000377576.3_Missense_Mutation_p.T950I|CYFIP2_ENST00000435847.2_Missense_Mutation_p.T649I|CYFIP2_ENST00000522463.1_Missense_Mutation_p.T754I|CYFIP2_ENST00000521420.1_Missense_Mutation_p.T924I|CYFIP2_ENST00000318218.6_Missense_Mutation_p.T975I|CYFIP2_ENST00000541131.1_Missense_Mutation_p.T875I NM_001037332.2 NP_001032409.2 Q96F07 CYFP2_HUMAN cytoplasmic FMR1 interacting protein 2 975 apoptosis|cell-cell adhesion cell junction|perinuclear region of cytoplasm|synapse|synaptosome protein binding p.T975I(2)|p.T950I(1) breast(1)|endometrium(12)|kidney(2)|lung(23) 38 Renal(175;0.00212) Medulloblastoma(196;0.0306)|all_neural(177;0.0897) Kidney(164;0.000171)|KIRC - Kidney renal clear cell carcinoma(164;0.000785) TATGTGAAAACACTGATAGAG 0.512000 16 107 0 0 0.520397 0 0 CEP135 9662 broad.mit.edu 37 4 56830457 56830457 + Silent SNP A A C TCGA-44-5645-01A-01D-1625-08 TCGA-44-5645-10A-01D-1625-08 Untested Somatic Phase_I WXS none Illumina GAIIx dac33765-0c88-4a51-8389-c042ccb78c83 7f4b8638-3af7-4e03-b4c3-0a46afb3e2f7 g.chr4:56830457A>C ENST00000257287.4 + 7 841 c.717A>C c.(715-717)cgA>cgC p.R239R NM_025009.4 NP_079285.2 Q66GS9 CP135_HUMAN centrosomal protein 135kDa 239 centriole replication|centriole-centriole cohesion|G2/M transition of mitotic cell cycle centriole|cytosol protein C-terminus binding p.R239R(1) breast(1)|central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(9)|lung(26)|ovary(2)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(3) 50 Glioma(25;0.08)|all_neural(26;0.101) TAAGAGAACGAGAGATAGAAC 0.363000 7 61 0 0 0.307466 0 0 AGRN 375790 broad.mit.edu 37 1 984830 984830 + Splice_Site SNP G G A TCGA-44-5645-01A-01D-1625-08 TCGA-44-5645-10A-01D-1625-08 Untested Somatic Phase_I WXS none Illumina GAIIx dac33765-0c88-4a51-8389-c042ccb78c83 7f4b8638-3af7-4e03-b4c3-0a46afb3e2f7 g.chr1:984830G>A ENST00000379370.2 + 25 4563 c.4514_splice c.e25+1 p.V1505_splice NM_198576.3 NP_940978.2 O00468 AGRIN_HUMAN agrin 1505 Laminin G-like 1. axon guidance|clustering of voltage-gated sodium channels|muscarinic acetylcholine receptor signaling pathway|receptor clustering basal lamina laminin binding|structural constituent of cytoskeleton p.V1505M(1) breast(1)|central_nervous_system(2)|endometrium(8)|kidney(3)|large_intestine(2)|lung(20)|ovary(1)|prostate(1)|skin(3)|urinary_tract(1) 42 all_cancers(77;0.00164)|all_epithelial(69;0.000959)|all_lung(157;0.00963)|Lung NSC(156;0.0232)|Ovarian(185;0.0634) all_epithelial(116;8.75e-19)|all_lung(118;2.3e-08)|Lung NSC(185;2.38e-06)|Renal(390;0.00183)|Breast(487;0.00354)|Hepatocellular(190;0.00826)|Myeloproliferative disorder(586;0.0122)|Ovarian(437;0.0308)|Lung SC(97;0.128) UCEC - Uterine corpus endometrioid carcinoma (11;0.00462)|Epithelial(90;5.98e-38)|OV - Ovarian serous cystadenocarcinoma(86;5.43e-23)|Colorectal(212;5.97e-05)|COAD - Colon adenocarcinoma(227;0.000201)|Kidney(185;0.0024)|BRCA - Breast invasive adenocarcinoma(365;0.00246)|STAD - Stomach adenocarcinoma(132;0.00645)|KIRC - Kidney renal clear cell carcinoma(229;0.0354)|Lung(427;0.201) CCAGGCTGCCGTGTGAGTCCC 0.677000 6 19 0 0 0.248553 0 0 FERD3L 222894 broad.mit.edu 37 7 19184591 19184591 + Missense_Mutation SNP G G A TCGA-44-5645-01A-01D-1625-08 TCGA-44-5645-10A-01D-1625-08 Untested Somatic Phase_I WXS none Illumina GAIIx dac33765-0c88-4a51-8389-c042ccb78c83 7f4b8638-3af7-4e03-b4c3-0a46afb3e2f7 g.chr7:19184591G>A ENST00000275461.3 - 1 453 c.395C>T c.(394-396)gCt>gTt p.A132V AC003986.5_ENST00000452700.1_RNA NM_152898.2 NP_690862.1 Q96RJ6 FER3L_HUMAN Fer3-like bHLH transcription factor 132 Helix-loop-helix motif. negative regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding p.A132V(1) breast(1)|endometrium(4)|large_intestine(8)|lung(16)|ovary(1)|prostate(2)|skin(1)|urinary_tract(2) 35 TTTCTCGTAAGCAAACGTGGG 0.582000 12 124 0 0 0.411799 0 0 TKTL1 8277 broad.mit.edu 37 X 153553709 153553709 + Nonsense_Mutation SNP C C T TCGA-44-5645-01A-01D-1625-08 TCGA-44-5645-10A-01D-1625-08 Untested Somatic Phase_I WXS none Illumina GAIIx dac33765-0c88-4a51-8389-c042ccb78c83 7f4b8638-3af7-4e03-b4c3-0a46afb3e2f7 g.chrX:153553709C>T ENST00000369915.3 + 10 1531 c.1342C>T c.(1342-1344)Cga>Tga p.R448* TKTL1_ENST00000217905.7_Nonsense_Mutation_p.R188*|TKTL1_ENST00000369912.2_Nonsense_Mutation_p.R392* NM_001145933.1|NM_012253.3 NP_001139405.1|NP_036385.3 P51854 TKTL1_HUMAN transketolase-like 1 448 glucose catabolic process|thiamine metabolic process cytoplasm|nucleus metal ion binding|transketolase activity p.R448*(1) NS(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(8)|ovary(5)|prostate(1)|skin(1)|urinary_tract(2) 34 all_cancers(53;5.05e-16)|all_epithelial(53;1.82e-10)|all_lung(58;1.84e-07)|Lung NSC(58;5.84e-07)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176) TCGGACCACCCGACCAGAAAC 0.468000 21 84 0 0 0.624587 0 0 AHNAK 79026 broad.mit.edu 37 11 62298187 62298187 + Silent SNP G G C TCGA-44-5645-01A-01D-1625-08 TCGA-44-5645-10A-01D-1625-08 Untested Somatic Phase_I WXS none Illumina GAIIx dac33765-0c88-4a51-8389-c042ccb78c83 7f4b8638-3af7-4e03-b4c3-0a46afb3e2f7 g.chr11:62298187G>C ENST00000378024.4 - 5 3976 c.3702C>G c.(3700-3702)ccC>ccG p.P1234P AHNAK_ENST00000530124.1_Intron|AHNAK_ENST00000257247.7_Intron NM_001620.1 NP_001611.1 Q09666 AHNK_HUMAN AHNAK nucleoprotein 1234 nervous system development nucleus protein binding p.P1234P(2) 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) TGTCCATTTTGGGTCCTTTGA 0.483000 64 297 0 0 0.870114 0 0 NBPF1 55672 broad.mit.edu 37 1 16918653 16918653 + Splice_Site SNP C C T TCGA-44-5645-01A-01D-1625-08 TCGA-44-5645-10A-01D-1625-08 Untested Somatic Phase_I WXS none Illumina GAIIx dac33765-0c88-4a51-8389-c042ccb78c83 7f4b8638-3af7-4e03-b4c3-0a46afb3e2f7 g.chr1:16918653C>T ENST00000430580.2 - 6 853 c.e6+1 NM_017940.3 NP_060410.2 Q3BBV0 NBPF1_HUMAN neuroblastoma breakpoint family, member 1 cytoplasm UCEC - Uterine corpus endometrioid carcinoma (279;0.00459)|BRCA - Breast invasive adenocarcinoma(304;7.52e-06)|COAD - Colon adenocarcinoma(227;1.05e-05)|Kidney(64;0.00016)|KIRC - Kidney renal clear cell carcinoma(64;0.00258)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.179) TCTTAACTTACTGTTGTGAAA 0.418000 4 69 0 0 0.278610 0 0 RP11-423O2.5 0 broad.mit.edu 37 1 142803543 142803543 + RNA SNP C C T TCGA-44-5645-01A-01D-1625-08 TCGA-44-5645-10A-01D-1625-08 Untested Somatic Phase_I WXS none Illumina GAIIx dac33765-0c88-4a51-8389-c042ccb78c83 7f4b8638-3af7-4e03-b4c3-0a46afb3e2f7 g.chr1:142803543C>T ENST00000423385.1 - 0 1422 TGTTGGAATTCCTGATGAATC 0.269000 6 193 0 0 0.217242 0 0 CHEK2 11200 broad.mit.edu 37 22 29091841 29091841 + Silent SNP G G A rs146546850 byFrequency TCGA-44-5645-01A-01D-1625-08 TCGA-44-5645-10A-01D-1625-08 Untested Somatic Phase_I WXS none Illumina GAIIx dac33765-0c88-4a51-8389-c042ccb78c83 7f4b8638-3af7-4e03-b4c3-0a46afb3e2f7 g.chr22:29091841G>A ENST00000544772.1 - 12 1889 c.453C>T c.(451-453)tcC>tcT p.S151S CHEK2_ENST00000403642.1_Silent_p.S281S|CHEK2_ENST00000382566.1_3'UTR|CHEK2_ENST00000382565.1_Intron|CHEK2_ENST00000404276.1_Silent_p.S372S|CHEK2_ENST00000382578.1_Silent_p.S281S|CHEK2_ENST00000402731.1_Silent_p.S343S|CHEK2_ENST00000348295.3_Silent_p.S343S|CHEK2_ENST00000328354.6_Silent_p.S372S|CHEK2_ENST00000405598.1_Silent_p.S372S|CHEK2_ENST00000382580.2_Silent_p.S415S NM_001257387.1 NP_001244316.1 O96017 CHK2_HUMAN checkpoint kinase 2 372 FHA. cell cycle|DNA damage checkpoint|DNA damage response, signal transduction resulting in induction of apoptosis|replicative senescence PML body ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity p.S372S(8) central_nervous_system(17)|endometrium(2)|kidney(11)|large_intestine(2)|lung(11)|ovary(1)|prostate(4)|stomach(2) 50 CCAAAATCTTGGAGTGCCCAA 0.413000 F breast Direct reversal of damage;Other conserved DNA damage response genes 3 44 0 0 0.150653 0 0 RBP3 5949 broad.mit.edu 37 10 48389514 48389514 + Missense_Mutation SNP A A G TCGA-44-5645-01A-01D-1625-08 TCGA-44-5645-10A-01D-1625-08 Untested Somatic Phase_I WXS none Illumina GAIIx dac33765-0c88-4a51-8389-c042ccb78c83 7f4b8638-3af7-4e03-b4c3-0a46afb3e2f7 g.chr10:48389514A>G ENST00000224600.4 - 1 1477 c.1364T>C c.(1363-1365)gTg>gCg p.V455A NM_002900.2 NP_002891.1 P10745 RET3_HUMAN retinol binding protein 3, interstitial 455 4 X approximate tandem repeats. lipid metabolic process|proteolysis|transport|visual perception interphotoreceptor matrix retinal binding|serine-type peptidase activity p.V455A(1) central_nervous_system(3)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(8)|lung(30)|ovary(1)|prostate(7)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 59 Vitamin A(DB00162) TGGGGCCAACACACCCAGGAC 0.622000 6 30 0 0 0.278610 0 0 MANEAL 149175 broad.mit.edu 37 1 38260316 38260316 + Silent SNP C C G TCGA-44-5645-01A-01D-1625-08 TCGA-44-5645-10A-01D-1625-08 Untested Somatic Phase_I WXS none Illumina GAIIx dac33765-0c88-4a51-8389-c042ccb78c83 7f4b8638-3af7-4e03-b4c3-0a46afb3e2f7 g.chr1:38260316C>G ENST00000373045.6 + 1 843 c.462C>G c.(460-462)tcC>tcG p.S154S MANEAL_ENST00000397631.3_Silent_p.S154S NM_001113482.1 NP_001106954.1 Q5VSG8 MANEL_HUMAN mannosidase, endo-alpha-like 154 Golgi membrane|integral to membrane hydrolase activity p.S154S(1) endometrium(1)|large_intestine(1)|liver(1)|lung(1)|prostate(3) 7 Acute lymphoblastic leukemia(166;0.074)|all_hematologic(146;0.197) Myeloproliferative disorder(586;0.0255) ACTTGGGCTCCAGCTTCTACC 0.677000 3 20 0 0 0.115264 0 0 C9orf3 84909 broad.mit.edu 37 9 97522766 97522766 + Missense_Mutation SNP C C T TCGA-44-5645-01A-01D-1625-08 TCGA-44-5645-10A-01D-1625-08 Untested Somatic Phase_I WXS none Illumina GAIIx dac33765-0c88-4a51-8389-c042ccb78c83 7f4b8638-3af7-4e03-b4c3-0a46afb3e2f7 g.chr9:97522766C>T ENST00000375315.2 + 1 701 c.701C>T c.(700-702)gCt>gTt p.A234V C9orf3_ENST00000297979.5_Missense_Mutation_p.A234V|C9orf3_ENST00000277198.2_Missense_Mutation_p.A234V NM_001193329.1 NP_001180258.1 Q8N6M6 AMPO_HUMAN chromosome 9 open reading frame 3 234 leukotriene biosynthetic process|proteolysis cytoplasm aminopeptidase activity|metallopeptidase activity|zinc ion binding p.A234V(2) cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(12)|ovary(1)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 23 OV - Ovarian serous cystadenocarcinoma(323;0.000275) AAGACAGGGGCTCAGACAGCT 0.517000 7 18 0 0 0.248553 0 0 SLC9A5 6553 broad.mit.edu 37 16 67298944 67298944 + Splice_Site SNP A A C TCGA-44-5645-01A-01D-1625-08 TCGA-44-5645-10A-01D-1625-08 Untested Somatic Phase_I WXS none Illumina GAIIx dac33765-0c88-4a51-8389-c042ccb78c83 7f4b8638-3af7-4e03-b4c3-0a46afb3e2f7 g.chr16:67298944A>C ENST00000299798.11 + 14 2080 c.2013_splice c.e14-1 p.K672_splice NM_004594.2 NP_004585.1 Q14940 SL9A5_HUMAN solute carrier family 9, subfamily A (NHE5, cation proton antiporter 5), member 5 672 regulation of pH integral to membrane|plasma membrane sodium:hydrogen antiporter activity p.K672T(1) breast(1)|cervix(1)|endometrium(5)|kidney(4)|large_intestine(3)|lung(9)|ovary(2)|pancreas(1)|prostate(1) 27 Ovarian(137;0.0563) OV - Ovarian serous cystadenocarcinoma(108;0.00376)|Epithelial(162;0.0173)|all cancers(182;0.116) GGTCCTCAGAAGGATGGTGTG 0.562000 6 56 0 0 0.217242 0 0 TTLL12 23170 broad.mit.edu 37 22 43564118 43564118 + Missense_Mutation SNP C C T TCGA-44-5645-01A-01D-1625-08 TCGA-44-5645-10A-01D-1625-08 Untested Somatic Phase_I WXS none Illumina GAIIx dac33765-0c88-4a51-8389-c042ccb78c83 7f4b8638-3af7-4e03-b4c3-0a46afb3e2f7 g.chr22:43564118C>T ENST00000216129.6 - 14 1894 c.1831G>A c.(1831-1833)Gac>Aac p.D611N TTLL12_ENST00000494035.1_5'UTR NM_015140.3 NP_055955.1 Q14166 TTL12_HUMAN tubulin tyrosine ligase-like family, member 12 611 TTL. protein modification process tubulin-tyrosine ligase activity p.D611N(1) central_nervous_system(1)|endometrium(1)|large_intestine(1)|lung(7)|ovary(2)|prostate(1) 13 Ovarian(80;0.221)|Glioma(61;0.222) CGCTCACAGTCGGGGTTGAAG 0.597000 19 49 0 0 0.575678 0 0 FOLH1 2346 broad.mit.edu 37 11 49178267 49178267 + Splice_Site SNP A A G TCGA-44-5645-01A-01D-1625-08 TCGA-44-5645-10A-01D-1625-08 Untested Somatic Phase_I WXS none Illumina GAIIx dac33765-0c88-4a51-8389-c042ccb78c83 7f4b8638-3af7-4e03-b4c3-0a46afb3e2f7 g.chr11:49178267A>G ENST00000340334.7 - 16 1947 c.e16+1 FOLH1_ENST00000256999.2_Splice_Site|FOLH1_ENST00000343844.4_Splice_Site|FOLH1_ENST00000533034.1_Splice_Site|FOLH1_ENST00000356696.3_Splice_Site NM_001193471.1|NM_001193472.1 NP_001180400.1|NP_001180401.1 Q04609 FOLH1_HUMAN folate hydrolase (prostate-specific membrane antigen) 1 proteolysis cytoplasm|integral to plasma membrane|membrane fraction|nucleus carboxypeptidase activity|dipeptidase activity|metal ion binding|metallopeptidase activity p.?(1) NS(2)|breast(2)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(7)|lung(34)|ovary(1)|skin(1)|upper_aerodigestive_tract(4)|urinary_tract(3) 60 Capromab(DB00089)|L-Glutamic Acid(DB00142) AGATTCACTTACCCAATTTTT 0.328000 26 144 0 0 0.740014 0 0 MAN2A1 4124 broad.mit.edu 37 5 109091091 109091091 + Missense_Mutation SNP A A G TCGA-44-5645-01A-01D-1625-08 TCGA-44-5645-10A-01D-1625-08 Untested Somatic Phase_I WXS none Illumina GAIIx dac33765-0c88-4a51-8389-c042ccb78c83 7f4b8638-3af7-4e03-b4c3-0a46afb3e2f7 g.chr5:109091091A>G ENST00000261483.4 + 5 1821 c.769A>G c.(769-771)Act>Gct p.T257A NM_002372.2 NP_002363.2 Q16706 MA2A1_HUMAN mannosidase, alpha, class 2A, member 1 257 mannose metabolic process|post-translational protein modification|protein N-linked glycosylation via asparagine Golgi membrane|integral to membrane alpha-mannosidase activity|carbohydrate binding|mannosyl-oligosaccharide 1,3-1,6-alpha-mannosidase activity|zinc ion binding p.T257A(1) breast(2)|central_nervous_system(2)|endometrium(7)|kidney(2)|large_intestine(13)|lung(20)|ovary(3)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 55 all_cancers(142;8.66e-07)|all_epithelial(76;7.73e-09)|Prostate(80;0.000303)|Lung NSC(167;0.0186)|all_lung(232;0.0241)|Ovarian(225;0.0444)|Colorectal(57;0.0959)|Breast(839;0.244) OV - Ovarian serous cystadenocarcinoma(64;2.17e-10)|Epithelial(69;1.37e-09)|COAD - Colon adenocarcinoma(37;0.141) TGATGAAGCTACTCCACATTA 0.328000 16 90 0 0 0.557998 0 0 PI4KA 5297 broad.mit.edu 37 22 21083678 21083678 + Silent SNP C C G TCGA-44-5645-01A-01D-1625-08 TCGA-44-5645-10A-01D-1625-08 Untested Somatic Phase_I WXS none Illumina GAIIx dac33765-0c88-4a51-8389-c042ccb78c83 7f4b8638-3af7-4e03-b4c3-0a46afb3e2f7 g.chr22:21083678C>G ENST00000255882.6 - 39 4691 c.4605G>C c.(4603-4605)ctG>ctC p.L1535L PI4KA_ENST00000572273.1_Silent_p.L1477L|PI4KA_ENST00000414196.3_Silent_p.L287L NM_058004.3 NP_477352.3 P42356 PI4KA_HUMAN phosphatidylinositol 4-kinase, catalytic, alpha 1477 phosphatidylinositol biosynthetic process|phosphatidylinositol-mediated signaling|synaptic transmission Golgi-associated vesicle 1-phosphatidylinositol 4-kinase activity|ATP binding|protein binding p.L1477L(2) breast(3)|endometrium(8)|kidney(9)|large_intestine(19)|lung(29)|ovary(1)|pancreas(1)|prostate(3)|salivary_gland(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1) 79 all_cancers(11;7.59e-25)|all_epithelial(7;1.34e-22)|Melanoma(16;0.000465)|Ovarian(15;0.00167)|Colorectal(54;0.0332)|all_neural(72;0.142) Lung SC(17;0.0262) LUSC - Lung squamous cell carcinoma(15;0.000536)|Lung(15;0.0108)|Epithelial(17;0.196) GCTTCTCACTCAGGCTGATGT 0.607000 2 10 0 0 0.115264 0 0 CDKN2A 1029 broad.mit.edu 37 9 21971077 21971077 + Missense_Mutation SNP A A G TCGA-44-5645-01A-01D-1625-08 TCGA-44-5645-10A-01D-1625-08 Untested Somatic Phase_I WXS none Illumina GAIIx dac33765-0c88-4a51-8389-c042ccb78c83 7f4b8638-3af7-4e03-b4c3-0a46afb3e2f7 g.chr9:21971077A>G ENST00000304494.5 - 2 551 c.281T>C c.(280-282)cTg>cCg p.L94P CDKN2A_ENST00000494262.1_Missense_Mutation_p.L43P|RP11-145E5.5_ENST00000404796.2_Intron|CDKN2A_ENST00000497750.1_Missense_Mutation_p.L43P|CDKN2A_ENST00000361570.3_Silent_p.A149A|CDKN2A_ENST00000479692.2_Missense_Mutation_p.L43P|CDKN2A_ENST00000498124.1_Missense_Mutation_p.L94P|CDKN2A_ENST00000579122.1_Missense_Mutation_p.L94P|CDKN2A_ENST00000498628.2_Missense_Mutation_p.L43P|CDKN2A_ENST00000578845.2_Missense_Mutation_p.L43P|CDKN2A_ENST00000579755.1_Silent_p.A108A|CDKN2A_ENST00000446177.1_Missense_Mutation_p.L94P|CDKN2A_ENST00000530628.2_Silent_p.A108A NM_000077.4 NP_000068.1 P42771 CD2A1_HUMAN cyclin-dependent kinase inhibitor 2A 94 L -> Q (in CMM2). 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.L94P(2)|p.H83fs*2(2)|p.E61_L94del(1)|p.0(1)|p.L94fs*52(1)|p.T93_D105del(1)|p.G150fs*25(1)|p.R137fs*48(1)|p.A68fs*3(1)|p.A149A(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) CAGCACCACCAGCGTGTCCAG 0.741000 17 HNSCC(2;<9.43e_08)|TSP Lung(5;3.83e-07) 4 15 0 0 0.217242 0 0 AGO1 26523 broad.mit.edu 37 1 36383924 36383924 + Splice_Site SNP T T C TCGA-44-5645-01A-01D-1625-08 TCGA-44-5645-10A-01D-1625-08 Untested Somatic Phase_I WXS none Illumina GAIIx dac33765-0c88-4a51-8389-c042ccb78c83 7f4b8638-3af7-4e03-b4c3-0a46afb3e2f7 g.chr1:36383924T>C ENST00000373204.4 + 17 2378 c.2163_splice c.e17-1 p.I722_splice AGO1_ENST00000373206.1_Splice_Site_p.I647_splice NM_012199.2 NP_036331.1 argonaute RISC catalytic component 1 p.I722T(1) TCTATACAGATTGGGAAGAGT 0.502000 39 175 0 0 0.827153 0 0 INADL 10207 broad.mit.edu 37 1 62455859 62455859 + Nonsense_Mutation SNP T T A TCGA-44-5645-01A-01D-1625-08 TCGA-44-5645-10A-01D-1625-08 Untested Somatic Phase_I WXS none Illumina GAIIx dac33765-0c88-4a51-8389-c042ccb78c83 7f4b8638-3af7-4e03-b4c3-0a46afb3e2f7 g.chr1:62455859T>A ENST00000371158.2 + 28 3804 c.3690T>A c.(3688-3690)taT>taA p.Y1230* INADL_ENST00000316485.6_Nonsense_Mutation_p.Y1230*|INADL_ENST00000545929.1_5'UTR|INADL_ENST00000543708.1_Nonsense_Mutation_p.Y14* NM_176877.2 NP_795352.2 Q8NI35 INADL_HUMAN InaD-like (Drosophila) 1230 intracellular signal transduction|tight junction assembly apical plasma membrane|perinuclear region of cytoplasm|tight junction protein binding p.Y1230*(1) breast(3)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(11)|large_intestine(8)|liver(1)|lung(51)|ovary(3)|pancreas(1)|prostate(7)|skin(5)|stomach(1)|upper_aerodigestive_tract(3) 103 GACAAAGATATGCAGATCTGC 0.353000 17 28 0 0 0.520397 0 0 CUX1 1523 broad.mit.edu 37 7 101801866 101801866 + Missense_Mutation SNP C C T TCGA-44-5645-01A-01D-1625-08 TCGA-44-5645-10A-01D-1625-08 Untested Somatic Phase_I WXS none Illumina GAIIx dac33765-0c88-4a51-8389-c042ccb78c83 7f4b8638-3af7-4e03-b4c3-0a46afb3e2f7 g.chr7:101801866C>T ENST00000360264.3 + 9 754 c.734C>T c.(733-735)aCg>aTg p.T245M CUX1_ENST00000292538.4_Missense_Mutation_p.T245M|CUX1_ENST00000556210.1_Missense_Mutation_p.T234M|CUX1_ENST00000550008.2_Missense_Mutation_p.T234M|CUX1_ENST00000547394.2_Missense_Mutation_p.T229M|CUX1_ENST00000425244.2_Missense_Mutation_p.T199M|CUX1_ENST00000393824.3_Missense_Mutation_p.T208M|CUX1_ENST00000560541.1_3'UTR|CUX1_ENST00000437600.4_Missense_Mutation_p.T245M|CUX1_ENST00000549414.2_Missense_Mutation_p.T234M|CUX1_ENST00000546411.2_Missense_Mutation_p.T234M|CUX1_ENST00000292535.7_Missense_Mutation_p.T234M NM_001202543.1 NP_001189472.1 P39880 CUX1_HUMAN cut-like homeobox 1 234 negative regulation of transcription from RNA polymerase II promoter nucleus sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity p.T245M(1)|p.T234M(1) breast(2)|central_nervous_system(1)|cervix(2)|endometrium(6)|kidney(3)|large_intestine(8)|lung(26)|ovary(7)|pancreas(1)|prostate(6)|skin(2)|stomach(1)|urinary_tract(5) 70 ATGATCATGACGGACCTTGAA 0.562000 3 54 0 0 0.150653 0 0 PDE4DIP 9659 broad.mit.edu 37 1 144918885 144918885 + Missense_Mutation SNP T T C TCGA-44-5645-01A-01D-1625-08 TCGA-44-5645-10A-01D-1625-08 Untested Somatic Phase_I WXS none Illumina GAIIx dac33765-0c88-4a51-8389-c042ccb78c83 7f4b8638-3af7-4e03-b4c3-0a46afb3e2f7 g.chr1:144918885T>C ENST00000529945.1 - 6 2229 c.1790A>G c.(1789-1791)cAa>cGa p.Q597R PDE4DIP_ENST00000479408.2_Missense_Mutation_p.Q221R|PDE4DIP_ENST00000369351.3_Missense_Mutation_p.Q434R|PDE4DIP_ENST00000369354.3_Missense_Mutation_p.Q434R|PDE4DIP_ENST00000369356.4_Missense_Mutation_p.Q434R|PDE4DIP_ENST00000369359.4_Missense_Mutation_p.Q571R|PDE4DIP_ENST00000530740.1_Missense_Mutation_p.Q571R|PDE4DIP_ENST00000313382.9_Missense_Mutation_p.Q500R|PDE4DIP_ENST00000369349.3_Missense_Mutation_p.Q434R|PDE4DIP_ENST00000313431.9_Missense_Mutation_p.Q597R Q5VU43 MYOME_HUMAN phosphodiesterase 4D interacting protein 434 cellular protein complex assembly centrosome|Golgi apparatus|myofibril|nucleus enzyme binding p.Q434R(2)|p.Q597R(1) NS(1)|breast(3)|central_nervous_system(2)|cervix(2)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(9)|large_intestine(12)|lung(106)|ovary(8)|prostate(7)|skin(3)|upper_aerodigestive_tract(4)|urinary_tract(2) 176 Colorectal(2;0.0829)|COAD - Colon adenocarcinoma(2;0.126) CTGGATGTTTTGTTCCTGGGT 0.438000 T PDGFRB MPD 168 587 0 0 0.870114 0 0 BRPF1 7862 broad.mit.edu 37 3 9780966 9780966 + Missense_Mutation SNP A A G TCGA-44-5645-01A-01D-1625-08 TCGA-44-5645-10A-01D-1625-08 Untested Somatic Phase_I WXS none Illumina GAIIx dac33765-0c88-4a51-8389-c042ccb78c83 7f4b8638-3af7-4e03-b4c3-0a46afb3e2f7 g.chr3:9780966A>G ENST00000383829.2 + 3 1287 c.883A>G c.(883-885)Atg>Gtg p.M295V BRPF1_ENST00000424362.1_Missense_Mutation_p.M295V|BRPF1_ENST00000302054.3_Missense_Mutation_p.M295V|BRPF1_ENST00000433861.2_Missense_Mutation_p.M295V|BRPF1_ENST00000457855.1_Missense_Mutation_p.M295V NM_001003694.1 NP_001003694.1 P55201 BRPF1_HUMAN bromodomain and PHD finger containing, 1 295 histone H3 acetylation|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent cytoplasm|MOZ/MORF histone acetyltransferase complex|plasma membrane DNA binding|zinc ion binding p.M295V(1) central_nervous_system(1)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(8)|lung(15)|ovary(3)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2) 49 Medulloblastoma(99;0.227) CTTCTGTGACATGTGCAACCT 0.557000 10 30 0 0 0.387290 0 0 SAGE1 55511 broad.mit.edu 37 X 134987534 134987534 + Missense_Mutation SNP T T C TCGA-44-5645-01A-01D-1625-08 TCGA-44-5645-10A-01D-1625-08 Untested Somatic Phase_I WXS none Illumina GAIIx dac33765-0c88-4a51-8389-c042ccb78c83 7f4b8638-3af7-4e03-b4c3-0a46afb3e2f7 g.chrX:134987534T>C ENST00000535938.1 + 5 604 c.437T>C c.(436-438)aTg>aCg p.M146T SAGE1_ENST00000324447.3_Missense_Mutation_p.M146T|SAGE1_ENST00000537770.1_Missense_Mutation_p.M146T|SAGE1_ENST00000370709.3_Missense_Mutation_p.M146T NM_018666.2 NP_061136.2 Q9NXZ1 SAGE1_HUMAN sarcoma antigen 1 146 p.M146T(1) breast(5)|endometrium(5)|large_intestine(10)|lung(23)|ovary(3)|pancreas(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1) 55 Acute lymphoblastic leukemia(192;0.000127) ATTCCATCCATGAGTACCAGG 0.423000 6 109 0 0 0.217242 0 0 RRN3P1 730092 broad.mit.edu 37 16 21817457 21817457 + RNA SNP G G A rs150520281 by1000genomes TCGA-44-5645-01A-01D-1625-08 TCGA-44-5645-10A-01D-1625-08 Untested Somatic Phase_I WXS none Illumina GAIIx dac33765-0c88-4a51-8389-c042ccb78c83 7f4b8638-3af7-4e03-b4c3-0a46afb3e2f7 g.chr16:21817457G>A ENST00000546471.1 - 0 1601 CTTACATCCAGCTTGAGTAGT 0.259000 3 22 0 0 0.150653 0 0 METAP1 23173 broad.mit.edu 37 4 99982307 99982307 + Missense_Mutation SNP G G A TCGA-44-5645-01A-01D-1625-08 TCGA-44-5645-10A-01D-1625-08 Untested Somatic Phase_I WXS none Illumina GAIIx dac33765-0c88-4a51-8389-c042ccb78c83 7f4b8638-3af7-4e03-b4c3-0a46afb3e2f7 g.chr4:99982307G>A ENST00000296411.6 + 11 1134 c.1000G>A c.(1000-1002)Gga>Aga p.G334R METAP1_ENST00000544031.1_Missense_Mutation_p.G284R NM_015143.2 NP_055958.2 P53582 AMPM1_HUMAN methionyl aminopeptidase 1 334 N-terminal protein amino acid modification|peptidyl-methionine modification|proteolysis|regulation of translation cytoplasm aminopeptidase activity|metal ion binding|metalloexopeptidase activity|protein binding p.G334R(2) endometrium(3)|kidney(2)|large_intestine(1)|lung(7)|prostate(2)|skin(1)|urinary_tract(1) 17 OV - Ovarian serous cystadenocarcinoma(123;3.12e-07) TGTTGAAGGCGGATGGCAGGA 0.443000 19 105 0 0 0.575678 0 0 SLC24A2 25769 broad.mit.edu 37 9 19786259 19786259 + Silent SNP G G A rs147285634 by1000genomes TCGA-44-5645-01A-01D-1625-08 TCGA-44-5645-10A-01D-1625-08 Untested Somatic Phase_I WXS none Illumina GAIIx dac33765-0c88-4a51-8389-c042ccb78c83 7f4b8638-3af7-4e03-b4c3-0a46afb3e2f7 g.chr9:19786259G>A ENST00000341998.2 - 1 667 c.606C>T c.(604-606)aaC>aaT p.N202N SLC24A2_ENST00000286344.3_Silent_p.N202N NM_001193288.2|NM_020344.3 NP_001180217.1|NP_065077.1 Q9UI40 NCKX2_HUMAN solute carrier family 24 (sodium/potassium/calcium exchanger), member 2 202 visual perception integral to membrane|plasma membrane calcium, potassium:sodium antiporter activity|symporter activity p.N202N(1) endometrium(3)|kidney(1)|large_intestine(9)|lung(13)|ovary(3)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1) 33 GBM - Glioblastoma multiforme(1;1.67e-55)|Lung(42;0.0443) CTATGCCAACGTTGCTGTGAG 0.463000 20 55 0 0 0.624587 0 0 PIK3CA 5290 broad.mit.edu 37 3 178952085 178952085 + Missense_Mutation SNP A A G rs121913279 TCGA-44-5645-01A-01D-1625-08 TCGA-44-5645-10A-01D-1625-08 Untested Somatic Phase_I WXS none Illumina GAIIx dac33765-0c88-4a51-8389-c042ccb78c83 7f4b8638-3af7-4e03-b4c3-0a46afb3e2f7 g.chr3:178952085A>G ENST00000263967.3 + 21 3297 c.3140A>G c.(3139-3141)cAt>cGt p.H1047R NM_006218.2 NP_006209.2 P42336 PK3CA_HUMAN phosphatidylinositol-4,5-bisphosphate 3-kinase, catalytic subunit alpha 1047 PI3K/PI4K. H -> L (in cancer).|H -> R (in KERSEB; shows an increase in lipid kinase activity; oncogenic in vivo; requires binding to p85 regulatory subunit to induce cellular transformation but not interaction with RAS; may mimic the conformatitonal change triggered by the interaction with RAS; enhances invadopodia-mediated extracellular matrix degradation and invasion in breast cancer cells; increases lipid kinase activity; may alter the interaction of the PI3K/ PI4K kinase domain with the cell membrane).|H -> Y (in cancer). epidermal growth factor receptor signaling pathway|fibroblast growth factor receptor signaling pathway|insulin receptor signaling pathway|leukocyte migration|nerve growth factor receptor signaling pathway|phosphatidylinositol-mediated signaling|platelet activation|T cell costimulation|T cell receptor signaling pathway 1-phosphatidylinositol-3-kinase activity|ATP binding|phosphatidylinositol-4,5-bisphosphate 3-kinase activity p.H1047R(1387)|p.H1047L(194)|p.H1047P(1) NS(16)|autonomic_ganglia(4)|biliary_tract(22)|bone(1)|breast(2150)|central_nervous_system(110)|cervix(33)|endometrium(473)|eye(1)|haematopoietic_and_lymphoid_tissue(35)|kidney(14)|large_intestine(1202)|liver(42)|lung(202)|meninges(1)|oesophagus(28)|ovary(235)|pancreas(17)|penis(8)|pituitary(12)|prostate(10)|skin(155)|small_intestine(1)|soft_tissue(18)|stomach(121)|thyroid(80)|upper_aerodigestive_tract(70)|urinary_tract(208) 5269 all_cancers(143;1.19e-17)|Ovarian(172;0.00769)|Breast(254;0.155) OV - Ovarian serous cystadenocarcinoma(80;9.59e-28)|GBM - Glioblastoma multiforme(14;0.003)|BRCA - Breast invasive adenocarcinoma(182;0.0282) AATGATGCACATCATGGTGGC 0.378000 H1047L(EFM19_BREAST)|H1047R(BT20_BREAST)|H1047R(CAL29_URINARY_TRACT)|H1047R(CAL33_UPPER_AERODIGESTIVE_TRACT)|H1047R(DETROIT562_UPPER_AERODIGESTIVE_TRACT)|H1047R(HCC1954_BREAST)|H1047R(HCT116_LARGE_INTESTINE)|H1047R(HSC2_UPPER_AERODIGESTIVE_TRACT)|H1047R(LS180_LARGE_INTESTINE)|H1047R(MCAS_OVARY)|H1047R(MDAMB453_BREAST)|H1047R(NCIH1048_LUNG)|H1047R(RKO_LARGE_INTESTINE)|H1047R(SKOV3_OVARY)|H1047R(T47D_BREAST) 57 Mis """colorectal, gastric, gliobastoma, breast""" HNSCC(19;0.045)|TSP Lung(28;0.18) 14 34 0 0 0.479597 0 0 CHEK2 11200 broad.mit.edu 37 22 29091840 29091840 + Missense_Mutation SNP T T C rs142470496 byFrequency TCGA-44-5645-01A-01D-1625-08 TCGA-44-5645-10A-01D-1625-08 Untested Somatic Phase_I WXS none Illumina GAIIx dac33765-0c88-4a51-8389-c042ccb78c83 7f4b8638-3af7-4e03-b4c3-0a46afb3e2f7 g.chr22:29091840T>C ENST00000544772.1 - 12 1890 c.454A>G c.(454-456)Aag>Gag p.K152E CHEK2_ENST00000403642.1_Missense_Mutation_p.K282E|CHEK2_ENST00000382566.1_3'UTR|CHEK2_ENST00000382565.1_Intron|CHEK2_ENST00000404276.1_Missense_Mutation_p.K373E|CHEK2_ENST00000382578.1_Missense_Mutation_p.K282E|CHEK2_ENST00000402731.1_Missense_Mutation_p.K344E|CHEK2_ENST00000348295.3_Missense_Mutation_p.K344E|CHEK2_ENST00000328354.6_Missense_Mutation_p.K373E|CHEK2_ENST00000405598.1_Missense_Mutation_p.K373E|CHEK2_ENST00000382580.2_Missense_Mutation_p.K416E NM_001257387.1 NP_001244316.1 O96017 CHK2_HUMAN checkpoint kinase 2 373 FHA. cell cycle|DNA damage checkpoint|DNA damage response, signal transduction resulting in induction of apoptosis|replicative senescence PML body ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity p.K373E(9) central_nervous_system(17)|endometrium(2)|kidney(11)|large_intestine(2)|lung(11)|ovary(1)|prostate(4)|stomach(2) 50 CCCAAAATCTTGGAGTGCCCA 0.418000 F breast Direct reversal of damage;Other conserved DNA damage response genes 3 44 0 0 0.150653 0 0 CDC42EP2 10435 broad.mit.edu 37 11 65088480 65088480 + Missense_Mutation SNP C C A TCGA-44-5645-01A-01D-1625-08 TCGA-44-5645-10A-01D-1625-08 Untested Somatic Phase_I WXS none Illumina GAIIx dac33765-0c88-4a51-8389-c042ccb78c83 7f4b8638-3af7-4e03-b4c3-0a46afb3e2f7 g.chr11:65088480C>A ENST00000544348.1 + 2 717 c.111C>A c.(109-111)ttC>ttA p.F37L CDC42EP2_ENST00000279249.2_Missense_Mutation_p.F37L|CDC42EP2_ENST00000533419.1_Missense_Mutation_p.F37L O14613 BORG1_HUMAN CDC42 effector protein (Rho GTPase binding) 2 37 CRIB. actin filament organization|positive regulation of actin filament polymerization|positive regulation of pseudopodium assembly|regulation of cell shape cytoplasm|cytoskeleton|endomembrane system|plasma membrane GTP-Rho binding|Rho GTPase activator activity p.F37L(1) lung(1) 1 TGGGGGACTTCCGCCACACCA 0.607000 15 53 1.02788e-11 1.15411e-11 0.520397 1 0 TLR6 10333 broad.mit.edu 37 4 38830532 38830532 + Missense_Mutation SNP G G A TCGA-44-5645-01A-01D-1625-08 TCGA-44-5645-10A-01D-1625-08 Untested Somatic Phase_I WXS none Illumina GAIIx dac33765-0c88-4a51-8389-c042ccb78c83 7f4b8638-3af7-4e03-b4c3-0a46afb3e2f7 g.chr4:38830532G>A ENST00000436693.2 - 2 682 c.563C>T c.(562-564)aCa>aTa p.T188I TLR6_ENST00000381950.1_Missense_Mutation_p.T188I NM_006068.4 NP_006059.2 Q9Y2C9 TLR6_HUMAN toll-like receptor 6 188 activation of NF-kappaB-inducing kinase activity|cellular response to diacyl bacterial lipopeptide|defense response to bacterium|detection of diacyl bacterial lipopeptide|inflammatory response|innate immune response|MyD88-dependent toll-like receptor signaling pathway|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of interleukin-6 biosynthetic process|positive regulation of JUN kinase activity|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 4 signaling pathway integral to plasma membrane|phagocytic vesicle membrane lipopeptide binding|transmembrane receptor activity p.T188I(1) breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(7)|ovary(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 22 TAGACTTTCTGTCTCATTTTC 0.328000 8 35 0 0 0.307466 0 0 IRF3 3661 broad.mit.edu 37 19 50167985 50167985 + Silent SNP A A G TCGA-44-5645-01A-01D-1625-08 TCGA-44-5645-10A-01D-1625-08 Untested Somatic Phase_I WXS none Illumina GAIIx dac33765-0c88-4a51-8389-c042ccb78c83 7f4b8638-3af7-4e03-b4c3-0a46afb3e2f7 g.chr19:50167985A>G ENST00000597198.1 - 2 492 c.111T>C c.(109-111)ccT>ccC p.P37P IRF3_ENST00000596822.1_Intron|IRF3_ENST00000596765.1_Intron|IRF3_ENST00000377139.3_Silent_p.P37P|IRF3_ENST00000599144.1_Intron|IRF3_ENST00000601291.1_Silent_p.P37P|IRF3_ENST00000599223.1_Silent_p.P37P|IRF3_ENST00000600911.1_Silent_p.P37P|IRF3_ENST00000442265.2_Silent_p.P37P|IRF3_ENST00000600022.1_Intron|IRF3_ENST00000598808.1_Intron|IRF3_ENST00000309877.7_Silent_p.P37P|IRF3_ENST00000593922.1_Intron|IRF3_ENST00000377135.4_Silent_p.P37P Q14653 IRF3_HUMAN interferon regulatory factor 3 37 interferon-gamma-mediated signaling pathway|interspecies interaction between organisms|MyD88-independent toll-like receptor signaling pathway|negative regulation of type I interferon production|response to virus|Toll signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway|transcription from RNA polymerase II promoter|type I interferon-mediated signaling pathway cytosol|endosome membrane|nucleoplasm|plasma membrane DNA binding|protein homodimerization activity|sequence-specific DNA binding transcription factor activity|transcription cofactor activity p.P37P(1) breast(1)|large_intestine(2)|lung(4)|ovary(2)|stomach(1) 10 all_lung(116;3.24e-07)|Lung NSC(112;1.6e-06)|all_neural(266;0.0459)|Ovarian(192;0.0728) OV - Ovarian serous cystadenocarcinoma(262;0.0011)|GBM - Glioblastoma multiforme(134;0.02) CGTGCTTCCAAGGGATGCGGA 0.657000 25 87 0 0 0.740014 0 0 EPHA3 2042 broad.mit.edu 37 3 89462377 89462377 + Missense_Mutation SNP G G T TCGA-44-5645-01A-01D-1625-08 TCGA-44-5645-10A-01D-1625-08 Untested Somatic Phase_I WXS none Illumina GAIIx dac33765-0c88-4a51-8389-c042ccb78c83 7f4b8638-3af7-4e03-b4c3-0a46afb3e2f7 g.chr3:89462377G>T ENST00000336596.2 + 10 2074 c.1849G>T c.(1849-1851)Gat>Tat p.D617Y EPHA3_ENST00000494014.1_Missense_Mutation_p.D617Y NM_005233.5 NP_005224.2 P29320 EPHA3_HUMAN EPH receptor A3 617 extracellular region|integral to plasma membrane ATP binding p.D617Y(1) NS(1)|breast(4)|central_nervous_system(4)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(26)|liver(3)|lung(67)|ovary(7)|pancreas(1)|prostate(4)|skin(8)|stomach(1)|upper_aerodigestive_tract(5) 139 all_cancers(8;0.0406)|Melanoma(1;0.00142)|all_epithelial(1;0.0612) Lung NSC(201;0.0782) LUSC - Lung squamous cell carcinoma(29;0.00344)|Lung(72;0.00942) CAAGGAATTGGATGCCACCAA 0.433000 TSP Lung(6;0.00050) 21 62 2.37509e-13 2.71439e-13 0.592651 1 0 CABLES1 91768 broad.mit.edu 37 18 20814573 20814573 + Splice_Site SNP G G A TCGA-44-5645-01A-01D-1625-08 TCGA-44-5645-10A-01D-1625-08 Untested Somatic Phase_I WXS none Illumina GAIIx dac33765-0c88-4a51-8389-c042ccb78c83 7f4b8638-3af7-4e03-b4c3-0a46afb3e2f7 g.chr18:20814573G>A ENST00000256925.7 + 5 1090 c.1088_splice c.e5-1 p.D364_splice CABLES1_ENST00000400473.2_Splice_Site_p.D37_splice|CABLES1_ENST00000585061.1_Intron|TMEM241_ENST00000450466.2_Intron|CABLES1_ENST00000420687.2_Splice_Site_p.D99_splice NM_001100619.2 NP_001094089.1 Q8TDN4 CABL1_HUMAN Cdk5 and Abl enzyme substrate 1 364 Interacts with CDK3 (By similarity). blood coagulation|cell cycle|cell division|regulation of cell cycle|regulation of cell division cytosol|nucleus cyclin-dependent protein kinase regulator activity|protein binding p.D364N(1) breast(1)|kidney(2)|large_intestine(1)|lung(4)|ovary(1)|prostate(1)|stomach(1) 11 all_cancers(21;0.000102)|all_epithelial(16;2.48e-06)|Lung NSC(20;0.00696)|all_lung(20;0.0197)|Colorectal(14;0.0202)|Ovarian(20;0.127) TCCTCCCAGGGACTTGAAGTT 0.478000 7 9 0 0 0.307466 0 0 ZMIZ2 83637 broad.mit.edu 37 7 44806175 44806175 + Silent SNP G G A TCGA-44-5645-01A-01D-1625-08 TCGA-44-5645-10A-01D-1625-08 Untested Somatic Phase_I WXS none Illumina GAIIx dac33765-0c88-4a51-8389-c042ccb78c83 7f4b8638-3af7-4e03-b4c3-0a46afb3e2f7 g.chr7:44806175G>A ENST00000309315.4 + 18 2691 c.2568G>A c.(2566-2568)acG>acA p.T856T ZMIZ2_ENST00000433667.1_Silent_p.T824T|ZMIZ2_ENST00000441627.1_Silent_p.T856T|ZMIZ2_ENST00000265346.7_Silent_p.T830T|ZMIZ2_ENST00000463931.1_3'UTR|ZMIZ2_ENST00000413916.1_Silent_p.T798T NM_031449.3 NP_113637.3 Q8NF64 ZMIZ2_HUMAN zinc finger, MIZ-type containing 2 856 Pro-rich. positive regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent nuclear replication fork ligand-dependent nuclear receptor transcription coactivator activity|protein binding|zinc ion binding p.T856T(1) breast(3)|endometrium(2)|kidney(3)|large_intestine(6)|lung(10)|ovary(6)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 35 TAGGACCTACGGGTGAACTGG 0.662000 23 63 0 0 0.654019 0 0 WBP2NL 164684 broad.mit.edu 37 22 42415801 42415801 + Missense_Mutation SNP C C T TCGA-44-5645-01A-01D-1625-08 TCGA-44-5645-10A-01D-1625-08 Untested Somatic Phase_I WXS none Illumina GAIIx dac33765-0c88-4a51-8389-c042ccb78c83 7f4b8638-3af7-4e03-b4c3-0a46afb3e2f7 g.chr22:42415801C>T ENST00000328823.9 + 3 338 c.307C>T c.(307-309)Cca>Tca p.P103S WBP2NL_ENST00000543212.1_Missense_Mutation_p.P29S NM_152613.2 NP_689826.2 Q6ICG8 WBP2L_HUMAN WBP2 N-terminal like 103 egg activation|male pronucleus assembly|meiosis perinuclear theca WW domain binding p.P103S(1) breast(2)|large_intestine(3)|lung(5)|ovary(3)|prostate(1) 14 TCAGGCAGCTCCATATGGTAA 0.363000 30 74 0 0 0.740014 0 0 LAMB1 3912 broad.mit.edu 37 7 107626714 107626714 + Missense_Mutation SNP G G A TCGA-44-5645-01A-01D-1625-08 TCGA-44-5645-10A-01D-1625-08 Untested Somatic Phase_I WXS none Illumina GAIIx dac33765-0c88-4a51-8389-c042ccb78c83 7f4b8638-3af7-4e03-b4c3-0a46afb3e2f7 g.chr7:107626714G>A ENST00000393561.1 - 4 774 c.590C>T c.(589-591)tCg>tTg p.S197L LAMB1_ENST00000393560.1_Missense_Mutation_p.S173L|LAMB1_ENST00000222399.6_Missense_Mutation_p.S173L P07942 LAMB1_HUMAN laminin, beta 1 173 Laminin N-terminal. axon guidance|odontogenesis|positive regulation of cell migration|positive regulation of epithelial cell proliferation|substrate adhesion-dependent cell spreading extracellular space|laminin-1 complex|laminin-10 complex|laminin-2 complex|laminin-8 complex|perinuclear region of cytoplasm extracellular matrix structural constituent p.S173L(1) NS(3)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(4)|large_intestine(11)|lung(37)|ovary(6)|prostate(5)|skin(5)|upper_aerodigestive_tract(3) 82 Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Tenecteplase(DB00031) GCCTGGAAACGAGGCCTCACA 0.453000 6 106 0 0 0.278610 0 0 ATP8B4 79895 broad.mit.edu 37 15 50211114 50211114 + Nonsense_Mutation SNP G G A TCGA-44-5645-01A-01D-1625-08 TCGA-44-5645-10A-01D-1625-08 Untested Somatic Phase_I WXS none Illumina GAIIx dac33765-0c88-4a51-8389-c042ccb78c83 7f4b8638-3af7-4e03-b4c3-0a46afb3e2f7 g.chr15:50211114G>A ENST00000284509.6 - 19 2098 c.1957C>T c.(1957-1959)Cag>Tag p.Q653* ATP8B4_ENST00000559829.1_Nonsense_Mutation_p.Q653* NM_024837.2 NP_079113.2 Q8TF62 AT8B4_HUMAN ATPase, class I, type 8B, member 4 653 ATP biosynthetic process integral to membrane ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|magnesium ion binding|phospholipid-translocating ATPase activity p.Q653*(1) breast(6)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(14)|lung(27)|ovary(2)|pancreas(1)|prostate(1)|skin(7)|urinary_tract(1) 73 all_lung(180;0.00183) all cancers(107;2.41e-07)|GBM - Glioblastoma multiforme(94;8.28e-05) ACACCCTCCTGTAACTTATCT 0.343000 20 95 0 0 0.624587 0 0 GRM5 2915 broad.mit.edu 37 11 88780796 88780796 + Missense_Mutation SNP T T C TCGA-44-5645-01A-01D-1625-08 TCGA-44-5645-10A-01D-1625-08 Untested Somatic Phase_I WXS none Illumina GAIIx dac33765-0c88-4a51-8389-c042ccb78c83 7f4b8638-3af7-4e03-b4c3-0a46afb3e2f7 g.chr11:88780796T>C ENST00000418177.2 - 2 612 c.245A>G c.(244-246)gAc>gGc p.D82G GRM5_ENST00000393297.1_Missense_Mutation_p.D82G|GRM5_ENST00000305432.5_Missense_Mutation_p.D82G|GRM5_ENST00000455756.2_Missense_Mutation_p.D82G|GRM5_ENST00000305447.4_Missense_Mutation_p.D82G|GRM5_ENST00000393294.3_Missense_Mutation_p.D82G P41594 GRM5_HUMAN glutamate receptor, metabotropic 5 82 activation of phospholipase C activity by metabotropic glutamate receptor signaling pathway|synaptic transmission integral to plasma membrane G-protein coupled receptor activity|glutamate receptor activity p.D82G(2) NS(1)|breast(5)|central_nervous_system(4)|endometrium(5)|kidney(3)|large_intestine(18)|lung(40)|ovary(3)|pancreas(1)|prostate(4)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2) 90 Acute lymphoblastic leukemia(157;2.54e-05)|all_hematologic(158;0.00834) Acamprosate(DB00659) GAGTGTGGGGTCTGAATTGAT 0.527000 13 16 0 0 0.500413 0 0 TP53 7157 broad.mit.edu 37 17 7573967 7573967 + Nonsense_Mutation SNP G G A TCGA-44-5645-01A-01D-1625-08 TCGA-44-5645-10A-01D-1625-08 Untested Somatic Phase_I WXS none Illumina GAIIx dac33765-0c88-4a51-8389-c042ccb78c83 7f4b8638-3af7-4e03-b4c3-0a46afb3e2f7 g.chr17:7573967G>A ENST00000269305.4 - 10 1249 c.1060C>T c.(1060-1062)Cag>Tag p.Q354* TP53_ENST00000359597.4_Intron|TP53_ENST00000413465.2_Intron|TP53_ENST00000445888.2_Nonsense_Mutation_p.Q354*|TP53_ENST00000455263.2_3'UTR|TP53_ENST00000420246.2_3'UTR NM_000546.5|NM_001126112.2|NM_001126118.1|NM_001276760.1|NM_001276761.1 NP_000537.3|NP_001119584.1|NP_001119590.1|NP_001263689.1|NP_001263690.1 P04637 P53_HUMAN tumor protein p53 354 Interaction with CARM1.|Interaction with HIPK1 (By similarity).|Interaction with HIPK2.|Oligomerization. Q -> E (in a sporadic cancer; somatic mutation).|Q -> K (in a sporadic cancer; somatic mutation).|Q -> R (in sporadic cancers; 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.0?(8)|p.Q354*(2)|p.I332fs*5(1)|p.Q354K(1)|p.?(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) TTCCCAGCCTGGGCATCCTTG 0.597000 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) 4 18 0 0 0.184627 0 0 CAMK2D 817 broad.mit.edu 37 4 114530323 114530323 + Missense_Mutation SNP T T C TCGA-44-5645-01A-01D-1625-08 TCGA-44-5645-10A-01D-1625-08 Untested Somatic Phase_I WXS none Illumina GAIIx dac33765-0c88-4a51-8389-c042ccb78c83 7f4b8638-3af7-4e03-b4c3-0a46afb3e2f7 g.chr4:114530323T>C ENST00000454265.2 - 4 1118 c.260A>G c.(259-261)tAc>tGc p.Y87C CAMK2D_ENST00000514328.1_Missense_Mutation_p.Y87C|CAMK2D_ENST00000379773.2_Missense_Mutation_p.Y87C|CAMK2D_ENST00000394522.3_Missense_Mutation_p.Y87C|CAMK2D_ENST00000505990.1_Missense_Mutation_p.Y87C|CAMK2D_ENST00000394524.3_Missense_Mutation_p.Y87C|CAMK2D_ENST00000394526.2_Missense_Mutation_p.Y87C|CAMK2D_ENST00000296402.5_Missense_Mutation_p.Y87C|CAMK2D_ENST00000515496.1_Missense_Mutation_p.Y87C|CAMK2D_ENST00000511664.1_Missense_Mutation_p.Y87C|CAMK2D_ENST00000342666.5_Missense_Mutation_p.Y87C|CAMK2D_ENST00000418639.2_Missense_Mutation_p.Y87C|CAMK2D_ENST00000508738.1_Missense_Mutation_p.Y87C|CAMK2D_ENST00000429180.1_Missense_Mutation_p.Y87C Q13557 KCC2D_HUMAN calcium/calmodulin-dependent protein kinase II delta 87 Protein kinase. interferon-gamma-mediated signaling pathway|regulation of cell growth|synaptic transmission calcium- and calmodulin-dependent protein kinase complex|cytosol|endocytic vesicle membrane|nucleoplasm|plasma membrane ATP binding|calmodulin binding|calmodulin-dependent protein kinase activity p.Y87C(1) breast(2)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(3)|ovary(1)|prostate(1) 13 Ovarian(17;0.00369)|Hepatocellular(203;0.217) OV - Ovarian serous cystadenocarcinoma(123;0.000271) AAACACCAAGTAGTGAAAGCC 0.323000 23 34 0 0 0.706142 0 0 SCN5A 6331 broad.mit.edu 37 3 38592973 38592973 + Silent SNP T T A TCGA-44-5645-01A-01D-1625-08 TCGA-44-5645-10A-01D-1625-08 Untested Somatic Phase_I WXS none Illumina GAIIx dac33765-0c88-4a51-8389-c042ccb78c83 7f4b8638-3af7-4e03-b4c3-0a46afb3e2f7 g.chr3:38592973T>A ENST00000413689.1 - 28 5083 c.4890A>T c.(4888-4890)atA>atT p.I1630I SCN5A_ENST00000423572.2_Silent_p.I1629I|SCN5A_ENST00000414099.2_Silent_p.I1612I|SCN5A_ENST00000425664.1_Silent_p.I1612I|SCN5A_ENST00000443581.1_Silent_p.I1629I|SCN5A_ENST00000450102.2_Silent_p.I1576I|SCN5A_ENST00000449557.2_Silent_p.I1576I|SCN5A_ENST00000333535.4_Silent_p.I1630I|SCN5A_ENST00000451551.2_Silent_p.I1576I|SCN5A_ENST00000455624.2_Silent_p.I1597I NM_001099404.1|NM_001160160.1 NP_001092874.1|NP_001153632.1 Q14524 SCN5A_HUMAN sodium channel, voltage-gated, type V, alpha subunit 1630 blood circulation|cellular response to calcium ion|muscle contraction|regulation of heart contraction sarcolemma|voltage-gated sodium channel complex protein binding|voltage-gated sodium channel activity p.I1630I(2) NS(3)|breast(2)|central_nervous_system(3)|cervix(2)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(25)|lung(27)|ovary(6)|pancreas(3)|prostate(10)|skin(9)|upper_aerodigestive_tract(4) 107 Medulloblastoma(35;0.163) KIRC - Kidney renal clear cell carcinoma(284;0.0822)|Kidney(284;0.1) Benzonatate(DB00868)|Bepridil(DB01244)|Carbamazepine(DB00564)|Cocaine(DB00907)|Dibucaine(DB00527)|Disopyramide(DB00280)|Encainide(DB01228)|Ethotoin(DB00754)|Flecainide(DB01195)|Fosphenytoin(DB01320)|Hexylcaine(DB00473)|Indecainide(DB00192)|Lamotrigine(DB00555)|Lidocaine(DB00281)|Mephenytoin(DB00532)|Mexiletine(DB00379)|Mibefradil(DB01388)|Moricizine(DB00680)|Oxcarbazepine(DB00776)|Phenytoin(DB00252)|Prilocaine(DB00750)|Procainamide(DB01035)|Propafenone(DB01182)|Quinidine(DB00908)|Riluzole(DB00740)|Tocainide(DB01056)|Verapamil(DB00661) GGATGCGGCCTATTCGGGCCA 0.597000 18 60 0 0 0.592651 0 0 UBQLN1 29979 broad.mit.edu 37 9 86276788 86276788 + Missense_Mutation SNP G G T TCGA-44-5645-01A-01D-1625-08 TCGA-44-5645-10A-01D-1625-08 Untested Somatic Phase_I WXS none Illumina GAIIx dac33765-0c88-4a51-8389-c042ccb78c83 7f4b8638-3af7-4e03-b4c3-0a46afb3e2f7 g.chr9:86276788G>T ENST00000376395.4 - 11 2207 c.1684C>A c.(1684-1686)Cgt>Agt p.R562S UBQLN1_ENST00000257468.7_Missense_Mutation_p.R534S NM_013438.4|NM_053067.2 NP_038466.2|NP_444295.1 Q9UMX0 UBQL1_HUMAN ubiquilin 1 562 UBA. apoptosis|regulation of protein ubiquitination|response to hypoxia endoplasmic reticulum|nucleus|perinuclear region of cytoplasm|proteasome complex kinase binding p.R562S(1) breast(4)|endometrium(2)|kidney(4)|large_intestine(6)|lung(10)|prostate(1) 27 TTTGCTTCACGGTTCAAAAAT 0.388000 4 82 0.150653 0.158063 0.150653 1 0 CIB3 117286 broad.mit.edu 37 19 16284278 16284278 + Missense_Mutation SNP G G T TCGA-44-5645-01A-01D-1625-08 TCGA-44-5645-10A-01D-1625-08 Untested Somatic Phase_I WXS none Illumina GAIIx dac33765-0c88-4a51-8389-c042ccb78c83 7f4b8638-3af7-4e03-b4c3-0a46afb3e2f7 g.chr19:16284278G>T ENST00000269878.4 - 1 58 c.9C>A c.(7-9)aaC>aaA p.N3K CIB3_ENST00000541493.1_5'UTR|CIB3_ENST00000379859.3_Missense_Mutation_p.N3K NM_054113.2 NP_473454.1 Q96Q77 CIB3_HUMAN calcium and integrin binding family member 3 3 calcium ion binding p.N3K(1) cervix(1)|endometrium(4)|kidney(1)|large_intestine(3)|lung(4)|ovary(1)|skin(2) 16 CTGTCTGCTTGTTGCCCATGG 0.592000 19 52 1.28384e-07 1.41665e-07 0.608945 1 0 GRIN2A 2903 broad.mit.edu 37 16 9858195 9858195 + Missense_Mutation SNP G G A TCGA-44-5645-01A-01D-1625-08 TCGA-44-5645-11A-01D-1625-08 Untested Somatic Phase_I WXS none Illumina GAIIx dac33765-0c88-4a51-8389-c042ccb78c83 98d3effe-3109-4a06-a9f0-c152d576a1ff g.chr16:9858195G>A ENST00000396573.2 - 14 3515 c.3206C>T c.(3205-3207)aCg>aTg p.T1069M GRIN2A_ENST00000535259.1_Missense_Mutation_p.T912M|GRIN2A_ENST00000330684.3_Missense_Mutation_p.T1069M|GRIN2A_ENST00000562109.1_Missense_Mutation_p.T1069M|GRIN2A_ENST00000396575.2_Missense_Mutation_p.T1069M|GRIN2A_ENST00000404927.2_Missense_Mutation_p.T1069M NM_000833.3 NP_000824.1 Q12879 NMDE1_HUMAN glutamate receptor, ionotropic, N-methyl D-aspartate 2A 1069 response to ethanol cell junction|N-methyl-D-aspartate selective glutamate receptor complex|outer membrane-bounded periplasmic space|postsynaptic membrane N-methyl-D-aspartate selective glutamate receptor activity|zinc ion binding p.T1069M(1) NS(7)|breast(5)|cervix(1)|endometrium(11)|kidney(6)|large_intestine(36)|lung(71)|ovary(4)|prostate(9)|skin(45)|upper_aerodigestive_tract(2)|urinary_tract(1) 198 Felbamate(DB00949)|Glycine(DB00145)|L-Glutamic Acid(DB00142)|Loperamide(DB00836)|Memantine(DB01043) CCTGTGGCACGTGGCCCGATT 0.502000 28 104 0 0 0.681144 0 0 DEFB121 245934 broad.mit.edu 37 20 29992817 29992817 + Missense_Mutation SNP A A G TCGA-44-5645-01A-01D-1625-08 TCGA-44-5645-11A-01D-1625-08 Untested Somatic Phase_I WXS none Illumina GAIIx dac33765-0c88-4a51-8389-c042ccb78c83 98d3effe-3109-4a06-a9f0-c152d576a1ff g.chr20:29992817A>G ENST00000376314.2 - 2 243 c.130T>C c.(130-132)Tgc>Cgc p.C44R DEFB121_ENST00000376312.3_5'UTR NM_001011878.2 NP_001011878.1 Q5J5C9 DB121_HUMAN defensin, beta 121 44 defense response to bacterium extracellular region p.C44R(1) large_intestine(1)|lung(1) 2 all_hematologic(12;0.158) Colorectal(19;0.00254)|COAD - Colon adenocarcinoma(19;0.0347) TCAGTTTTGCATAATATATAG 0.388000 18 84 0 0 0.520397 0 0 TENM2 57451 broad.mit.edu 37 5 167642247 167642247 + Missense_Mutation SNP G G T TCGA-44-5645-01A-01D-1625-08 TCGA-44-5645-11A-01D-1625-08 Untested Somatic Phase_I WXS none Illumina GAIIx dac33765-0c88-4a51-8389-c042ccb78c83 98d3effe-3109-4a06-a9f0-c152d576a1ff g.chr5:167642247G>T ENST00000519204.1 + 20 3803 c.3685G>T c.(3685-3687)Gcc>Tcc p.A1229S TENM2_ENST00000545108.1_Missense_Mutation_p.A1349S|TENM2_ENST00000520394.1_Missense_Mutation_p.A1111S|TENM2_ENST00000403607.2_Missense_Mutation_p.A1174S|TENM2_ENST00000518659.1_Missense_Mutation_p.A1350S teneurin transmembrane protein 2 p.A1229S(1)|p.A1183S(1)|p.A1350S(1) TGGAGGGAAGGCCATAGATGC 0.557000 3 60 0.004672 0.00499421 0.115264 1 0 TGIF2LX 90316 broad.mit.edu 37 X 89177431 89177431 + Missense_Mutation SNP G G A TCGA-44-5645-01A-01D-1625-08 TCGA-44-5645-11A-01D-1625-08 Untested Somatic Phase_I WXS none Illumina GAIIx dac33765-0c88-4a51-8389-c042ccb78c83 98d3effe-3109-4a06-a9f0-c152d576a1ff g.chrX:89177431G>A ENST00000561129.2 + 1 477 c.347G>A c.(346-348)cGt>cAt p.R116H TGIF2LX_ENST00000283891.5_Missense_Mutation_p.R116H Q8IUE1 TF2LX_HUMAN TGFB-induced factor homeobox 2-like, X-linked 116 nucleus sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity p.R116H(1) central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(29)|ovary(1)|skin(3)|urinary_tract(1) 40 CTTCAACAGCGTAGAAACGAC 0.522000 25 78 0 0 0.769981 0 0 CYFIP2 26999 broad.mit.edu 37 5 156787321 156787321 + Missense_Mutation SNP C C T TCGA-44-5645-01A-01D-1625-08 TCGA-44-5645-11A-01D-1625-08 Untested Somatic Phase_I WXS none Illumina GAIIx dac33765-0c88-4a51-8389-c042ccb78c83 98d3effe-3109-4a06-a9f0-c152d576a1ff g.chr5:156787321C>T ENST00000347377.6 + 25 3280 c.2849C>T c.(2848-2850)aCa>aTa p.T950I CYFIP2_ENST00000522463.1_Missense_Mutation_p.T754I|CYFIP2_ENST00000442283.2_3'UTR|CYFIP2_ENST00000318218.6_Missense_Mutation_p.T975I|CYFIP2_ENST00000435847.2_Missense_Mutation_p.T649I|CYFIP2_ENST00000521420.1_Missense_Mutation_p.T924I|CYFIP2_ENST00000377576.3_Missense_Mutation_p.T950I|CYFIP2_ENST00000541131.1_Missense_Mutation_p.T875I NM_001037332.2 NP_001032409.2 Q96F07 CYFP2_HUMAN cytoplasmic FMR1 interacting protein 2 975 apoptosis|cell-cell adhesion cell junction|perinuclear region of cytoplasm|synapse|synaptosome protein binding p.T975I(2)|p.T950I(1) breast(1)|endometrium(12)|kidney(2)|lung(23) 38 Renal(175;0.00212) Medulloblastoma(196;0.0306)|all_neural(177;0.0897) Kidney(164;0.000171)|KIRC - Kidney renal clear cell carcinoma(164;0.000785) TATGTGAAAACACTGATAGAG 0.512000 16 107 0 0 0.520397 0 0 CEP135 9662 broad.mit.edu 37 4 56830457 56830457 + Silent SNP A A C TCGA-44-5645-01A-01D-1625-08 TCGA-44-5645-11A-01D-1625-08 Untested Somatic Phase_I WXS none Illumina GAIIx dac33765-0c88-4a51-8389-c042ccb78c83 98d3effe-3109-4a06-a9f0-c152d576a1ff g.chr4:56830457A>C ENST00000257287.4 + 7 841 c.717A>C c.(715-717)cgA>cgC p.R239R NM_025009.4 NP_079285.2 Q66GS9 CP135_HUMAN centrosomal protein 135kDa 239 centriole replication|centriole-centriole cohesion|G2/M transition of mitotic cell cycle centriole|cytosol protein C-terminus binding p.R239R(1) breast(1)|central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(9)|lung(26)|ovary(2)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(3) 50 Glioma(25;0.08)|all_neural(26;0.101) TAAGAGAACGAGAGATAGAAC 0.363000 7 61 0 0 0.307466 0 0 LOC645752 645752 broad.mit.edu 37 15 78211548 78211548 + RNA SNP T T C TCGA-44-5645-01A-01D-1625-08 TCGA-44-5645-11A-01D-1625-08 Untested Somatic Phase_I WXS none Illumina GAIIx dac33765-0c88-4a51-8389-c042ccb78c83 98d3effe-3109-4a06-a9f0-c152d576a1ff g.chr15:78211548T>C ENST00000565869.1 + 0 111 RP11-114H24.2_ENST00000567226.1_RNA CCACCTGGGATTGGAGCTTTC 0.562000 5 91 0 0 0.217242 0 0 AGRN 375790 broad.mit.edu 37 1 984830 984830 + Splice_Site SNP G G A TCGA-44-5645-01A-01D-1625-08 TCGA-44-5645-11A-01D-1625-08 Untested Somatic Phase_I WXS none Illumina GAIIx dac33765-0c88-4a51-8389-c042ccb78c83 98d3effe-3109-4a06-a9f0-c152d576a1ff g.chr1:984830G>A ENST00000379370.2 + 25 4563 c.4514_splice c.e25+1 p.V1505_splice NM_198576.3 NP_940978.2 O00468 AGRIN_HUMAN agrin 1505 Laminin G-like 1. axon guidance|clustering of voltage-gated sodium channels|muscarinic acetylcholine receptor signaling pathway|receptor clustering basal lamina laminin binding|structural constituent of cytoskeleton p.V1505M(1) breast(1)|central_nervous_system(2)|endometrium(8)|kidney(3)|large_intestine(2)|lung(20)|ovary(1)|prostate(1)|skin(3)|urinary_tract(1) 42 all_cancers(77;0.00164)|all_epithelial(69;0.000959)|all_lung(157;0.00963)|Lung NSC(156;0.0232)|Ovarian(185;0.0634) all_epithelial(116;8.75e-19)|all_lung(118;2.3e-08)|Lung NSC(185;2.38e-06)|Renal(390;0.00183)|Breast(487;0.00354)|Hepatocellular(190;0.00826)|Myeloproliferative disorder(586;0.0122)|Ovarian(437;0.0308)|Lung SC(97;0.128) UCEC - Uterine corpus endometrioid carcinoma (11;0.00462)|Epithelial(90;5.98e-38)|OV - Ovarian serous cystadenocarcinoma(86;5.43e-23)|Colorectal(212;5.97e-05)|COAD - Colon adenocarcinoma(227;0.000201)|Kidney(185;0.0024)|BRCA - Breast invasive adenocarcinoma(365;0.00246)|STAD - Stomach adenocarcinoma(132;0.00645)|KIRC - Kidney renal clear cell carcinoma(229;0.0354)|Lung(427;0.201) CCAGGCTGCCGTGTGAGTCCC 0.677000 6 19 0 0 0.248553 0 0 FERD3L 222894 broad.mit.edu 37 7 19184591 19184591 + Missense_Mutation SNP G G A TCGA-44-5645-01A-01D-1625-08 TCGA-44-5645-11A-01D-1625-08 Untested Somatic Phase_I WXS none Illumina GAIIx dac33765-0c88-4a51-8389-c042ccb78c83 98d3effe-3109-4a06-a9f0-c152d576a1ff g.chr7:19184591G>A ENST00000275461.3 - 1 453 c.395C>T c.(394-396)gCt>gTt p.A132V AC003986.5_ENST00000452700.1_RNA NM_152898.2 NP_690862.1 Q96RJ6 FER3L_HUMAN Fer3-like bHLH transcription factor 132 Helix-loop-helix motif. negative regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding p.A132V(1) breast(1)|endometrium(4)|large_intestine(8)|lung(16)|ovary(1)|prostate(2)|skin(1)|urinary_tract(2) 35 TTTCTCGTAAGCAAACGTGGG 0.582000 12 124 0 0 0.411799 0 0 TKTL1 8277 broad.mit.edu 37 X 153553709 153553709 + Nonsense_Mutation SNP C C T TCGA-44-5645-01A-01D-1625-08 TCGA-44-5645-11A-01D-1625-08 Untested Somatic Phase_I WXS none Illumina GAIIx dac33765-0c88-4a51-8389-c042ccb78c83 98d3effe-3109-4a06-a9f0-c152d576a1ff g.chrX:153553709C>T ENST00000369915.3 + 10 1531 c.1342C>T c.(1342-1344)Cga>Tga p.R448* TKTL1_ENST00000369912.2_Nonsense_Mutation_p.R392*|TKTL1_ENST00000217905.7_Nonsense_Mutation_p.R188* NM_001145933.1|NM_012253.3 NP_001139405.1|NP_036385.3 P51854 TKTL1_HUMAN transketolase-like 1 448 glucose catabolic process|thiamine metabolic process cytoplasm|nucleus metal ion binding|transketolase activity p.R448*(1) NS(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(8)|ovary(5)|prostate(1)|skin(1)|urinary_tract(2) 34 all_cancers(53;5.05e-16)|all_epithelial(53;1.82e-10)|all_lung(58;1.84e-07)|Lung NSC(58;5.84e-07)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176) TCGGACCACCCGACCAGAAAC 0.468000 21 84 0 0 0.624587 0 0 AHNAK 79026 broad.mit.edu 37 11 62298187 62298187 + Silent SNP G G C TCGA-44-5645-01A-01D-1625-08 TCGA-44-5645-11A-01D-1625-08 Untested Somatic Phase_I WXS none Illumina GAIIx dac33765-0c88-4a51-8389-c042ccb78c83 98d3effe-3109-4a06-a9f0-c152d576a1ff g.chr11:62298187G>C ENST00000378024.4 - 5 3976 c.3702C>G c.(3700-3702)ccC>ccG p.P1234P AHNAK_ENST00000530124.1_Intron|AHNAK_ENST00000257247.7_Intron NM_001620.1 NP_001611.1 Q09666 AHNK_HUMAN AHNAK nucleoprotein 1234 nervous system development nucleus protein binding p.P1234P(2) 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) TGTCCATTTTGGGTCCTTTGA 0.483000 64 297 0 0 0.870114 0 0 TTLL12 23170 broad.mit.edu 37 22 43564118 43564118 + Missense_Mutation SNP C C T TCGA-44-5645-01A-01D-1625-08 TCGA-44-5645-11A-01D-1625-08 Untested Somatic Phase_I WXS none Illumina GAIIx dac33765-0c88-4a51-8389-c042ccb78c83 98d3effe-3109-4a06-a9f0-c152d576a1ff g.chr22:43564118C>T ENST00000216129.6 - 14 1894 c.1831G>A c.(1831-1833)Gac>Aac p.D611N TTLL12_ENST00000494035.1_5'UTR NM_015140.3 NP_055955.1 Q14166 TTL12_HUMAN tubulin tyrosine ligase-like family, member 12 611 TTL. protein modification process tubulin-tyrosine ligase activity p.D611N(1) central_nervous_system(1)|endometrium(1)|large_intestine(1)|lung(7)|ovary(2)|prostate(1) 13 Ovarian(80;0.221)|Glioma(61;0.222) CGCTCACAGTCGGGGTTGAAG 0.597000 19 49 0 0 0.575678 0 0 CHEK2 11200 broad.mit.edu 37 22 29091841 29091841 + Silent SNP G G A rs146546850 byFrequency TCGA-44-5645-01A-01D-1625-08 TCGA-44-5645-11A-01D-1625-08 Untested Somatic Phase_I WXS none Illumina GAIIx dac33765-0c88-4a51-8389-c042ccb78c83 98d3effe-3109-4a06-a9f0-c152d576a1ff g.chr22:29091841G>A ENST00000544772.1 - 12 1889 c.453C>T c.(451-453)tcC>tcT p.S151S CHEK2_ENST00000404276.1_Silent_p.S372S|CHEK2_ENST00000405598.1_Silent_p.S372S|CHEK2_ENST00000382566.1_3'UTR|CHEK2_ENST00000403642.1_Silent_p.S281S|CHEK2_ENST00000402731.1_Silent_p.S343S|CHEK2_ENST00000348295.3_Silent_p.S343S|CHEK2_ENST00000382580.2_Silent_p.S415S|CHEK2_ENST00000382565.1_Intron|CHEK2_ENST00000328354.6_Silent_p.S372S|CHEK2_ENST00000382578.1_Silent_p.S281S NM_001257387.1 NP_001244316.1 O96017 CHK2_HUMAN checkpoint kinase 2 372 FHA. cell cycle|DNA damage checkpoint|DNA damage response, signal transduction resulting in induction of apoptosis|replicative senescence PML body ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity p.S372S(8) central_nervous_system(17)|endometrium(2)|kidney(11)|large_intestine(2)|lung(11)|ovary(1)|prostate(4)|stomach(2) 50 CCAAAATCTTGGAGTGCCCAA 0.413000 F breast Direct reversal of damage;Other conserved DNA damage response genes 3 44 0 0 0.150653 0 0 RBP3 5949 broad.mit.edu 37 10 48389514 48389514 + Missense_Mutation SNP A A G TCGA-44-5645-01A-01D-1625-08 TCGA-44-5645-11A-01D-1625-08 Untested Somatic Phase_I WXS none Illumina GAIIx dac33765-0c88-4a51-8389-c042ccb78c83 98d3effe-3109-4a06-a9f0-c152d576a1ff g.chr10:48389514A>G ENST00000224600.4 - 1 1477 c.1364T>C c.(1363-1365)gTg>gCg p.V455A NM_002900.2 NP_002891.1 P10745 RET3_HUMAN retinol binding protein 3, interstitial 455 4 X approximate tandem repeats. lipid metabolic process|proteolysis|transport|visual perception interphotoreceptor matrix retinal binding|serine-type peptidase activity p.V455A(1) central_nervous_system(3)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(8)|lung(30)|ovary(1)|prostate(7)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 59 Vitamin A(DB00162) TGGGGCCAACACACCCAGGAC 0.622000 6 30 0 0 0.278610 0 0 MANEAL 149175 broad.mit.edu 37 1 38260316 38260316 + Silent SNP C C G TCGA-44-5645-01A-01D-1625-08 TCGA-44-5645-11A-01D-1625-08 Untested Somatic Phase_I WXS none Illumina GAIIx dac33765-0c88-4a51-8389-c042ccb78c83 98d3effe-3109-4a06-a9f0-c152d576a1ff g.chr1:38260316C>G ENST00000373045.6 + 1 843 c.462C>G c.(460-462)tcC>tcG p.S154S MANEAL_ENST00000397631.3_Silent_p.S154S NM_001113482.1 NP_001106954.1 Q5VSG8 MANEL_HUMAN mannosidase, endo-alpha-like 154 Golgi membrane|integral to membrane hydrolase activity p.S154S(1) endometrium(1)|large_intestine(1)|liver(1)|lung(1)|prostate(3) 7 Acute lymphoblastic leukemia(166;0.074)|all_hematologic(146;0.197) Myeloproliferative disorder(586;0.0255) ACTTGGGCTCCAGCTTCTACC 0.677000 3 20 0 0 0.115264 0 0 C9orf3 84909 broad.mit.edu 37 9 97522766 97522766 + Missense_Mutation SNP C C T TCGA-44-5645-01A-01D-1625-08 TCGA-44-5645-11A-01D-1625-08 Untested Somatic Phase_I WXS none Illumina GAIIx dac33765-0c88-4a51-8389-c042ccb78c83 98d3effe-3109-4a06-a9f0-c152d576a1ff g.chr9:97522766C>T ENST00000375315.2 + 1 701 c.701C>T c.(700-702)gCt>gTt p.A234V C9orf3_ENST00000277198.2_Missense_Mutation_p.A234V|C9orf3_ENST00000297979.5_Missense_Mutation_p.A234V NM_001193329.1 NP_001180258.1 Q8N6M6 AMPO_HUMAN chromosome 9 open reading frame 3 234 leukotriene biosynthetic process|proteolysis cytoplasm aminopeptidase activity|metallopeptidase activity|zinc ion binding p.A234V(2) cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(12)|ovary(1)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 23 OV - Ovarian serous cystadenocarcinoma(323;0.000275) AAGACAGGGGCTCAGACAGCT 0.517000 7 18 0 0 0.248553 0 0 SLC9A5 6553 broad.mit.edu 37 16 67298944 67298944 + Splice_Site SNP A A C TCGA-44-5645-01A-01D-1625-08 TCGA-44-5645-11A-01D-1625-08 Untested Somatic Phase_I WXS none Illumina GAIIx dac33765-0c88-4a51-8389-c042ccb78c83 98d3effe-3109-4a06-a9f0-c152d576a1ff g.chr16:67298944A>C ENST00000299798.11 + 14 2080 c.2013_splice c.e14-1 p.K672_splice NM_004594.2 NP_004585.1 Q14940 SL9A5_HUMAN solute carrier family 9, subfamily A (NHE5, cation proton antiporter 5), member 5 672 regulation of pH integral to membrane|plasma membrane sodium:hydrogen antiporter activity p.K672T(1) breast(1)|cervix(1)|endometrium(5)|kidney(4)|large_intestine(3)|lung(9)|ovary(2)|pancreas(1)|prostate(1) 27 Ovarian(137;0.0563) OV - Ovarian serous cystadenocarcinoma(108;0.00376)|Epithelial(162;0.0173)|all cancers(182;0.116) GGTCCTCAGAAGGATGGTGTG 0.562000 6 56 0 0 0.217242 0 0 SKIV2L2 23517 broad.mit.edu 37 5 54701406 54701406 + Nonsense_Mutation SNP G G T TCGA-44-5645-01A-01D-1625-08 TCGA-44-5645-11A-01D-1625-08 Untested Somatic Phase_I WXS none Illumina GAIIx dac33765-0c88-4a51-8389-c042ccb78c83 98d3effe-3109-4a06-a9f0-c152d576a1ff g.chr5:54701406G>T ENST00000230640.5 + 22 2889 c.2635G>T c.(2635-2637)Gag>Tag p.E879* SKIV2L2_ENST00000545714.1_Nonsense_Mutation_p.E778* NM_015360.4 NP_056175.3 P42285 SK2L2_HUMAN superkiller viralicidic activity 2-like 2 (S. cerevisiae) 879 maturation of 5.8S rRNA catalytic step 2 spliceosome|nucleolus ATP binding|ATP-dependent helicase activity|nucleic acid binding|protein binding p.E879*(1) NS(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(5)|lung(12)|ovary(1)|prostate(4)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 41 Lung NSC(810;0.000744)|Breast(144;0.181)|Prostate(74;0.194) AGTGGCTTGTGAGATAAGCAG 0.318000 19 94 1.2644e-06 1.39988e-06 0.592651 1 0 FOLH1 2346 broad.mit.edu 37 11 49178267 49178267 + Splice_Site SNP A A G TCGA-44-5645-01A-01D-1625-08 TCGA-44-5645-11A-01D-1625-08 Untested Somatic Phase_I WXS none Illumina GAIIx dac33765-0c88-4a51-8389-c042ccb78c83 98d3effe-3109-4a06-a9f0-c152d576a1ff g.chr11:49178267A>G ENST00000340334.7 - 16 1947 c.e16+1 FOLH1_ENST00000343844.4_Splice_Site|FOLH1_ENST00000356696.3_Splice_Site|FOLH1_ENST00000256999.2_Splice_Site|FOLH1_ENST00000533034.1_Splice_Site NM_001193471.1|NM_001193472.1 NP_001180400.1|NP_001180401.1 Q04609 FOLH1_HUMAN folate hydrolase (prostate-specific membrane antigen) 1 proteolysis cytoplasm|integral to plasma membrane|membrane fraction|nucleus carboxypeptidase activity|dipeptidase activity|metal ion binding|metallopeptidase activity p.?(1) NS(2)|breast(2)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(7)|lung(34)|ovary(1)|skin(1)|upper_aerodigestive_tract(4)|urinary_tract(3) 60 Capromab(DB00089)|L-Glutamic Acid(DB00142) AGATTCACTTACCCAATTTTT 0.328000 26 144 0 0 0.740014 0 0 MAN2A1 4124 broad.mit.edu 37 5 109091091 109091091 + Missense_Mutation SNP A A G TCGA-44-5645-01A-01D-1625-08 TCGA-44-5645-11A-01D-1625-08 Untested Somatic Phase_I WXS none Illumina GAIIx dac33765-0c88-4a51-8389-c042ccb78c83 98d3effe-3109-4a06-a9f0-c152d576a1ff g.chr5:109091091A>G ENST00000261483.4 + 5 1821 c.769A>G c.(769-771)Act>Gct p.T257A NM_002372.2 NP_002363.2 Q16706 MA2A1_HUMAN mannosidase, alpha, class 2A, member 1 257 mannose metabolic process|post-translational protein modification|protein N-linked glycosylation via asparagine Golgi membrane|integral to membrane alpha-mannosidase activity|carbohydrate binding|mannosyl-oligosaccharide 1,3-1,6-alpha-mannosidase activity|zinc ion binding p.T257A(1) breast(2)|central_nervous_system(2)|endometrium(7)|kidney(2)|large_intestine(13)|lung(20)|ovary(3)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 55 all_cancers(142;8.66e-07)|all_epithelial(76;7.73e-09)|Prostate(80;0.000303)|Lung NSC(167;0.0186)|all_lung(232;0.0241)|Ovarian(225;0.0444)|Colorectal(57;0.0959)|Breast(839;0.244) OV - Ovarian serous cystadenocarcinoma(64;2.17e-10)|Epithelial(69;1.37e-09)|COAD - Colon adenocarcinoma(37;0.141) TGATGAAGCTACTCCACATTA 0.328000 16 90 0 0 0.557998 0 0 PI4KA 5297 broad.mit.edu 37 22 21083678 21083678 + Silent SNP C C G TCGA-44-5645-01A-01D-1625-08 TCGA-44-5645-11A-01D-1625-08 Untested Somatic Phase_I WXS none Illumina GAIIx dac33765-0c88-4a51-8389-c042ccb78c83 98d3effe-3109-4a06-a9f0-c152d576a1ff g.chr22:21083678C>G ENST00000255882.6 - 39 4691 c.4605G>C c.(4603-4605)ctG>ctC p.L1535L PI4KA_ENST00000414196.3_Silent_p.L287L|PI4KA_ENST00000572273.1_Silent_p.L1477L NM_058004.3 NP_477352.3 P42356 PI4KA_HUMAN phosphatidylinositol 4-kinase, catalytic, alpha 1477 phosphatidylinositol biosynthetic process|phosphatidylinositol-mediated signaling|synaptic transmission Golgi-associated vesicle 1-phosphatidylinositol 4-kinase activity|ATP binding|protein binding p.L1477L(2) breast(3)|endometrium(8)|kidney(9)|large_intestine(19)|lung(29)|ovary(1)|pancreas(1)|prostate(3)|salivary_gland(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1) 79 all_cancers(11;7.59e-25)|all_epithelial(7;1.34e-22)|Melanoma(16;0.000465)|Ovarian(15;0.00167)|Colorectal(54;0.0332)|all_neural(72;0.142) Lung SC(17;0.0262) LUSC - Lung squamous cell carcinoma(15;0.000536)|Lung(15;0.0108)|Epithelial(17;0.196) GCTTCTCACTCAGGCTGATGT 0.607000 2 10 0 0 0.115264 0 0 CDKN2A 1029 broad.mit.edu 37 9 21971077 21971077 + Missense_Mutation SNP A A G TCGA-44-5645-01A-01D-1625-08 TCGA-44-5645-11A-01D-1625-08 Untested Somatic Phase_I WXS none Illumina GAIIx dac33765-0c88-4a51-8389-c042ccb78c83 98d3effe-3109-4a06-a9f0-c152d576a1ff g.chr9:21971077A>G ENST00000304494.5 - 2 551 c.281T>C c.(280-282)cTg>cCg p.L94P CDKN2A_ENST00000578845.2_Missense_Mutation_p.L43P|CDKN2A_ENST00000361570.3_Silent_p.A149A|CDKN2A_ENST00000446177.1_Missense_Mutation_p.L94P|CDKN2A_ENST00000479692.2_Missense_Mutation_p.L43P|RP11-145E5.5_ENST00000404796.2_Intron|CDKN2A_ENST00000497750.1_Missense_Mutation_p.L43P|CDKN2A_ENST00000498628.2_Missense_Mutation_p.L43P|CDKN2A_ENST00000494262.1_Missense_Mutation_p.L43P|CDKN2A_ENST00000498124.1_Missense_Mutation_p.L94P|CDKN2A_ENST00000530628.2_Silent_p.A108A|CDKN2A_ENST00000579755.1_Silent_p.A108A|CDKN2A_ENST00000579122.1_Missense_Mutation_p.L94P NM_000077.4 NP_000068.1 P42771 CD2A1_HUMAN cyclin-dependent kinase inhibitor 2A 94 L -> Q (in CMM2). 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.L94P(2)|p.H83fs*2(2)|p.E61_L94del(1)|p.0(1)|p.L94fs*52(1)|p.T93_D105del(1)|p.G150fs*25(1)|p.R137fs*48(1)|p.A68fs*3(1)|p.A149A(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) CAGCACCACCAGCGTGTCCAG 0.741000 17 HNSCC(2;<9.43e_08)|TSP Lung(5;3.83e-07) 4 15 0 0 0.217242 0 0 PDE4DIP 9659 broad.mit.edu 37 1 144918885 144918885 + Missense_Mutation SNP T T C TCGA-44-5645-01A-01D-1625-08 TCGA-44-5645-11A-01D-1625-08 Untested Somatic Phase_I WXS none Illumina GAIIx dac33765-0c88-4a51-8389-c042ccb78c83 98d3effe-3109-4a06-a9f0-c152d576a1ff g.chr1:144918885T>C ENST00000529945.1 - 6 2229 c.1790A>G c.(1789-1791)cAa>cGa p.Q597R PDE4DIP_ENST00000369359.4_Missense_Mutation_p.Q571R|PDE4DIP_ENST00000313382.9_Missense_Mutation_p.Q500R|PDE4DIP_ENST00000369349.3_Missense_Mutation_p.Q434R|PDE4DIP_ENST00000369351.3_Missense_Mutation_p.Q434R|PDE4DIP_ENST00000369356.4_Missense_Mutation_p.Q434R|PDE4DIP_ENST00000369354.3_Missense_Mutation_p.Q434R|PDE4DIP_ENST00000479408.2_Missense_Mutation_p.Q221R|PDE4DIP_ENST00000313431.9_Missense_Mutation_p.Q597R|PDE4DIP_ENST00000530740.1_Missense_Mutation_p.Q571R Q5VU43 MYOME_HUMAN phosphodiesterase 4D interacting protein 434 cellular protein complex assembly centrosome|Golgi apparatus|myofibril|nucleus enzyme binding p.Q434R(2)|p.Q597R(1) NS(1)|breast(3)|central_nervous_system(2)|cervix(2)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(9)|large_intestine(12)|lung(106)|ovary(8)|prostate(7)|skin(3)|upper_aerodigestive_tract(4)|urinary_tract(2) 176 Colorectal(2;0.0829)|COAD - Colon adenocarcinoma(2;0.126) CTGGATGTTTTGTTCCTGGGT 0.438000 T PDGFRB MPD 168 587 0 0 0.870114 0 0 INADL 10207 broad.mit.edu 37 1 62455859 62455859 + Nonsense_Mutation SNP T T A TCGA-44-5645-01A-01D-1625-08 TCGA-44-5645-11A-01D-1625-08 Untested Somatic Phase_I WXS none Illumina GAIIx dac33765-0c88-4a51-8389-c042ccb78c83 98d3effe-3109-4a06-a9f0-c152d576a1ff g.chr1:62455859T>A ENST00000371158.2 + 28 3804 c.3690T>A c.(3688-3690)taT>taA p.Y1230* INADL_ENST00000316485.6_Nonsense_Mutation_p.Y1230*|INADL_ENST00000545929.1_5'UTR|INADL_ENST00000543708.1_Nonsense_Mutation_p.Y14* NM_176877.2 NP_795352.2 Q8NI35 INADL_HUMAN InaD-like (Drosophila) 1230 intracellular signal transduction|tight junction assembly apical plasma membrane|perinuclear region of cytoplasm|tight junction protein binding p.Y1230*(1) breast(3)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(11)|large_intestine(8)|liver(1)|lung(51)|ovary(3)|pancreas(1)|prostate(7)|skin(5)|stomach(1)|upper_aerodigestive_tract(3) 103 GACAAAGATATGCAGATCTGC 0.353000 17 28 0 0 0.520397 0 0 CUX1 1523 broad.mit.edu 37 7 101801866 101801866 + Missense_Mutation SNP C C T TCGA-44-5645-01A-01D-1625-08 TCGA-44-5645-11A-01D-1625-08 Untested Somatic Phase_I WXS none Illumina GAIIx dac33765-0c88-4a51-8389-c042ccb78c83 98d3effe-3109-4a06-a9f0-c152d576a1ff g.chr7:101801866C>T ENST00000360264.3 + 9 754 c.734C>T c.(733-735)aCg>aTg p.T245M CUX1_ENST00000560541.1_3'UTR|CUX1_ENST00000437600.4_Missense_Mutation_p.T245M|CUX1_ENST00000292535.7_Missense_Mutation_p.T234M|CUX1_ENST00000292538.4_Missense_Mutation_p.T245M|CUX1_ENST00000425244.2_Missense_Mutation_p.T199M|CUX1_ENST00000556210.1_Missense_Mutation_p.T234M|CUX1_ENST00000550008.2_Missense_Mutation_p.T234M|CUX1_ENST00000549414.2_Missense_Mutation_p.T234M|CUX1_ENST00000547394.2_Missense_Mutation_p.T229M|CUX1_ENST00000546411.2_Missense_Mutation_p.T234M|CUX1_ENST00000393824.3_Missense_Mutation_p.T208M NM_001202543.1 NP_001189472.1 P39880 CUX1_HUMAN cut-like homeobox 1 234 negative regulation of transcription from RNA polymerase II promoter nucleus sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity p.T245M(1)|p.T234M(1) breast(2)|central_nervous_system(1)|cervix(2)|endometrium(6)|kidney(3)|large_intestine(8)|lung(26)|ovary(7)|pancreas(1)|prostate(6)|skin(2)|stomach(1)|urinary_tract(5) 70 ATGATCATGACGGACCTTGAA 0.562000 3 54 0 0 0.150653 0 0 AGO1 26523 broad.mit.edu 37 1 36383924 36383924 + Splice_Site SNP T T C TCGA-44-5645-01A-01D-1625-08 TCGA-44-5645-11A-01D-1625-08 Untested Somatic Phase_I WXS none Illumina GAIIx dac33765-0c88-4a51-8389-c042ccb78c83 98d3effe-3109-4a06-a9f0-c152d576a1ff g.chr1:36383924T>C ENST00000373204.4 + 17 2378 c.2163_splice c.e17-1 p.I722_splice AGO1_ENST00000373206.1_Splice_Site_p.I647_splice NM_012199.2 NP_036331.1 argonaute RISC catalytic component 1 p.I722T(1) TCTATACAGATTGGGAAGAGT 0.502000 39 175 0 0 0.827153 0 0 BRPF1 7862 broad.mit.edu 37 3 9780966 9780966 + Missense_Mutation SNP A A G TCGA-44-5645-01A-01D-1625-08 TCGA-44-5645-11A-01D-1625-08 Untested Somatic Phase_I WXS none Illumina GAIIx dac33765-0c88-4a51-8389-c042ccb78c83 98d3effe-3109-4a06-a9f0-c152d576a1ff g.chr3:9780966A>G ENST00000383829.2 + 3 1287 c.883A>G c.(883-885)Atg>Gtg p.M295V BRPF1_ENST00000433861.2_Missense_Mutation_p.M295V|BRPF1_ENST00000457855.1_Missense_Mutation_p.M295V|BRPF1_ENST00000424362.1_Missense_Mutation_p.M295V|BRPF1_ENST00000302054.3_Missense_Mutation_p.M295V NM_001003694.1 NP_001003694.1 P55201 BRPF1_HUMAN bromodomain and PHD finger containing, 1 295 histone H3 acetylation|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent cytoplasm|MOZ/MORF histone acetyltransferase complex|plasma membrane DNA binding|zinc ion binding p.M295V(1) central_nervous_system(1)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(8)|lung(15)|ovary(3)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2) 49 Medulloblastoma(99;0.227) CTTCTGTGACATGTGCAACCT 0.557000 10 30 0 0 0.387290 0 0 SAGE1 55511 broad.mit.edu 37 X 134987534 134987534 + Missense_Mutation SNP T T C TCGA-44-5645-01A-01D-1625-08 TCGA-44-5645-11A-01D-1625-08 Untested Somatic Phase_I WXS none Illumina GAIIx dac33765-0c88-4a51-8389-c042ccb78c83 98d3effe-3109-4a06-a9f0-c152d576a1ff g.chrX:134987534T>C ENST00000535938.1 + 5 604 c.437T>C c.(436-438)aTg>aCg p.M146T SAGE1_ENST00000537770.1_Missense_Mutation_p.M146T|SAGE1_ENST00000324447.3_Missense_Mutation_p.M146T|SAGE1_ENST00000370709.3_Missense_Mutation_p.M146T NM_018666.2 NP_061136.2 Q9NXZ1 SAGE1_HUMAN sarcoma antigen 1 146 p.M146T(1) breast(5)|endometrium(5)|large_intestine(10)|lung(23)|ovary(3)|pancreas(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1) 55 Acute lymphoblastic leukemia(192;0.000127) ATTCCATCCATGAGTACCAGG 0.423000 6 109 0 0 0.217242 0 0 METTL1 4234 broad.mit.edu 37 12 58165040 58165040 + Splice_Site SNP G G A TCGA-44-5645-01A-01D-1625-08 TCGA-44-5645-11A-01D-1625-08 Untested Somatic Phase_I WXS none Illumina GAIIx dac33765-0c88-4a51-8389-c042ccb78c83 98d3effe-3109-4a06-a9f0-c152d576a1ff g.chr12:58165040G>A ENST00000324871.7 - 2 820 c.110_splice c.e2-1 p.Y37_splice METTL1_ENST00000548681.1_5'UTR|METTL1_ENST00000257848.7_Splice_Site_p.Y37_splice NM_005371.5 NP_005362.3 Q9UBP6 TRMB_HUMAN methyltransferase like 1 37 cytoplasm|nucleus protein binding|tRNA (guanine-N7-)-methyltransferase activity|tRNA binding p.Y37Y(1) large_intestine(1)|lung(2)|upper_aerodigestive_tract(1) 4 all_cancers(7;6.73e-81)|Lung NSC(6;1.07e-25)|all_lung(6;8.25e-24)|all_epithelial(6;4.6e-17)|Glioma(12;6.95e-05)|all_neural(12;0.00016)|Melanoma(17;0.122) BRCA - Breast invasive adenocarcinoma(9;0.211) GCTTCACAGGGCTATTGGAAA 0.493000 3 19 0 0 0.115264 0 0 METAP1 23173 broad.mit.edu 37 4 99982307 99982307 + Missense_Mutation SNP G G A TCGA-44-5645-01A-01D-1625-08 TCGA-44-5645-11A-01D-1625-08 Untested Somatic Phase_I WXS none Illumina GAIIx dac33765-0c88-4a51-8389-c042ccb78c83 98d3effe-3109-4a06-a9f0-c152d576a1ff g.chr4:99982307G>A ENST00000296411.6 + 11 1134 c.1000G>A c.(1000-1002)Gga>Aga p.G334R METAP1_ENST00000544031.1_Missense_Mutation_p.G284R NM_015143.2 NP_055958.2 P53582 AMPM1_HUMAN methionyl aminopeptidase 1 334 N-terminal protein amino acid modification|peptidyl-methionine modification|proteolysis|regulation of translation cytoplasm aminopeptidase activity|metal ion binding|metalloexopeptidase activity|protein binding p.G334R(2) endometrium(3)|kidney(2)|large_intestine(1)|lung(7)|prostate(2)|skin(1)|urinary_tract(1) 17 OV - Ovarian serous cystadenocarcinoma(123;3.12e-07) TGTTGAAGGCGGATGGCAGGA 0.443000 19 105 0 0 0.575678 0 0 SLC24A2 25769 broad.mit.edu 37 9 19786259 19786259 + Silent SNP G G A rs147285634 by1000genomes TCGA-44-5645-01A-01D-1625-08 TCGA-44-5645-11A-01D-1625-08 Untested Somatic Phase_I WXS none Illumina GAIIx dac33765-0c88-4a51-8389-c042ccb78c83 98d3effe-3109-4a06-a9f0-c152d576a1ff g.chr9:19786259G>A ENST00000341998.2 - 1 667 c.606C>T c.(604-606)aaC>aaT p.N202N SLC24A2_ENST00000286344.3_Silent_p.N202N NM_001193288.2|NM_020344.3 NP_001180217.1|NP_065077.1 Q9UI40 NCKX2_HUMAN solute carrier family 24 (sodium/potassium/calcium exchanger), member 2 202 visual perception integral to membrane|plasma membrane calcium, potassium:sodium antiporter activity|symporter activity p.N202N(1) endometrium(3)|kidney(1)|large_intestine(9)|lung(13)|ovary(3)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1) 33 GBM - Glioblastoma multiforme(1;1.67e-55)|Lung(42;0.0443) CTATGCCAACGTTGCTGTGAG 0.463000 20 55 0 0 0.624587 0 0 PIK3CA 5290 broad.mit.edu 37 3 178952085 178952085 + Missense_Mutation SNP A A G rs121913279 TCGA-44-5645-01A-01D-1625-08 TCGA-44-5645-11A-01D-1625-08 Untested Somatic Phase_I WXS none Illumina GAIIx dac33765-0c88-4a51-8389-c042ccb78c83 98d3effe-3109-4a06-a9f0-c152d576a1ff g.chr3:178952085A>G ENST00000263967.3 + 21 3297 c.3140A>G c.(3139-3141)cAt>cGt p.H1047R NM_006218.2 NP_006209.2 P42336 PK3CA_HUMAN phosphatidylinositol-4,5-bisphosphate 3-kinase, catalytic subunit alpha 1047 PI3K/PI4K. H -> L (in cancer).|H -> R (in KERSEB; shows an increase in lipid kinase activity; oncogenic in vivo; requires binding to p85 regulatory subunit to induce cellular transformation but not interaction with RAS; may mimic the conformatitonal change triggered by the interaction with RAS; enhances invadopodia-mediated extracellular matrix degradation and invasion in breast cancer cells; increases lipid kinase activity; may alter the interaction of the PI3K/ PI4K kinase domain with the cell membrane).|H -> Y (in cancer). epidermal growth factor receptor signaling pathway|fibroblast growth factor receptor signaling pathway|insulin receptor signaling pathway|leukocyte migration|nerve growth factor receptor signaling pathway|phosphatidylinositol-mediated signaling|platelet activation|T cell costimulation|T cell receptor signaling pathway 1-phosphatidylinositol-3-kinase activity|ATP binding|phosphatidylinositol-4,5-bisphosphate 3-kinase activity p.H1047R(1387)|p.H1047L(194)|p.H1047P(1) NS(16)|autonomic_ganglia(4)|biliary_tract(22)|bone(1)|breast(2150)|central_nervous_system(110)|cervix(33)|endometrium(473)|eye(1)|haematopoietic_and_lymphoid_tissue(35)|kidney(14)|large_intestine(1202)|liver(42)|lung(202)|meninges(1)|oesophagus(28)|ovary(235)|pancreas(17)|penis(8)|pituitary(12)|prostate(10)|skin(155)|small_intestine(1)|soft_tissue(18)|stomach(121)|thyroid(80)|upper_aerodigestive_tract(70)|urinary_tract(208) 5269 all_cancers(143;1.19e-17)|Ovarian(172;0.00769)|Breast(254;0.155) OV - Ovarian serous cystadenocarcinoma(80;9.59e-28)|GBM - Glioblastoma multiforme(14;0.003)|BRCA - Breast invasive adenocarcinoma(182;0.0282) AATGATGCACATCATGGTGGC 0.378000 H1047L(EFM19_BREAST)|H1047R(BT20_BREAST)|H1047R(CAL29_URINARY_TRACT)|H1047R(CAL33_UPPER_AERODIGESTIVE_TRACT)|H1047R(DETROIT562_UPPER_AERODIGESTIVE_TRACT)|H1047R(HCC1954_BREAST)|H1047R(HCT116_LARGE_INTESTINE)|H1047R(HSC2_UPPER_AERODIGESTIVE_TRACT)|H1047R(LS180_LARGE_INTESTINE)|H1047R(MCAS_OVARY)|H1047R(MDAMB453_BREAST)|H1047R(NCIH1048_LUNG)|H1047R(RKO_LARGE_INTESTINE)|H1047R(SKOV3_OVARY)|H1047R(T47D_BREAST) 57 Mis """colorectal, gastric, gliobastoma, breast""" HNSCC(19;0.045)|TSP Lung(28;0.18) 14 34 0 0 0.479597 0 0 CHEK2 11200 broad.mit.edu 37 22 29091840 29091840 + Missense_Mutation SNP T T C rs142470496 byFrequency TCGA-44-5645-01A-01D-1625-08 TCGA-44-5645-11A-01D-1625-08 Untested Somatic Phase_I WXS none Illumina GAIIx dac33765-0c88-4a51-8389-c042ccb78c83 98d3effe-3109-4a06-a9f0-c152d576a1ff g.chr22:29091840T>C ENST00000544772.1 - 12 1890 c.454A>G c.(454-456)Aag>Gag p.K152E CHEK2_ENST00000404276.1_Missense_Mutation_p.K373E|CHEK2_ENST00000405598.1_Missense_Mutation_p.K373E|CHEK2_ENST00000382566.1_3'UTR|CHEK2_ENST00000403642.1_Missense_Mutation_p.K282E|CHEK2_ENST00000402731.1_Missense_Mutation_p.K344E|CHEK2_ENST00000348295.3_Missense_Mutation_p.K344E|CHEK2_ENST00000382580.2_Missense_Mutation_p.K416E|CHEK2_ENST00000382565.1_Intron|CHEK2_ENST00000328354.6_Missense_Mutation_p.K373E|CHEK2_ENST00000382578.1_Missense_Mutation_p.K282E NM_001257387.1 NP_001244316.1 O96017 CHK2_HUMAN checkpoint kinase 2 373 FHA. cell cycle|DNA damage checkpoint|DNA damage response, signal transduction resulting in induction of apoptosis|replicative senescence PML body ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity p.K373E(9) central_nervous_system(17)|endometrium(2)|kidney(11)|large_intestine(2)|lung(11)|ovary(1)|prostate(4)|stomach(2) 50 CCCAAAATCTTGGAGTGCCCA 0.418000 F breast Direct reversal of damage;Other conserved DNA damage response genes 3 44 0 0 0.150653 0 0 CDC42EP2 10435 broad.mit.edu 37 11 65088480 65088480 + Missense_Mutation SNP C C A TCGA-44-5645-01A-01D-1625-08 TCGA-44-5645-11A-01D-1625-08 Untested Somatic Phase_I WXS none Illumina GAIIx dac33765-0c88-4a51-8389-c042ccb78c83 98d3effe-3109-4a06-a9f0-c152d576a1ff g.chr11:65088480C>A ENST00000544348.1 + 2 717 c.111C>A c.(109-111)ttC>ttA p.F37L CDC42EP2_ENST00000533419.1_Missense_Mutation_p.F37L|CDC42EP2_ENST00000279249.2_Missense_Mutation_p.F37L O14613 BORG1_HUMAN CDC42 effector protein (Rho GTPase binding) 2 37 CRIB. actin filament organization|positive regulation of actin filament polymerization|positive regulation of pseudopodium assembly|regulation of cell shape cytoplasm|cytoskeleton|endomembrane system|plasma membrane GTP-Rho binding|Rho GTPase activator activity p.F37L(1) lung(1) 1 TGGGGGACTTCCGCCACACCA 0.607000 15 53 1.02788e-11 1.18016e-11 0.520397 1 0 FCGR3A 2214 broad.mit.edu 37 1 161512867 161512867 + Nonsense_Mutation SNP G G A rs1042207 byFrequency TCGA-44-5645-01A-01D-1625-08 TCGA-44-5645-11A-01D-1625-08 Untested Somatic Phase_I WXS none Illumina GAIIx dac33765-0c88-4a51-8389-c042ccb78c83 98d3effe-3109-4a06-a9f0-c152d576a1ff g.chr1:161512867G>A ENST00000367969.3 - 5 991 c.808C>T c.(808-810)Cga>Tga p.R270* FCGR3A_ENST00000540048.1_Nonsense_Mutation_p.R234*|FCGR3A_ENST00000443193.1_Nonsense_Mutation_p.R269*|FCGR3A_ENST00000436743.1_Nonsense_Mutation_p.R234* NM_000569.6 NP_000560.5 P08637 FCG3A_HUMAN Fc fragment of IgG, low affinity IIIa, receptor (CD16a) 234 immune response|regulation of immune response extracellular region|integral to membrane|plasma membrane IgG binding|receptor activity p.R270*(2) breast(1)|endometrium(2)|kidney(2)|large_intestine(2)|lung(14)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1) 24 all_cancers(52;4.89e-16)|all_hematologic(112;0.0207) BRCA - Breast invasive adenocarcinoma(70;0.00376) Abciximab(DB00054)|Adalimumab(DB00051)|Alefacept(DB00092)|Alemtuzumab(DB00087)|Basiliximab(DB00074)|Bevacizumab(DB00112)|Cetuximab(DB00002)|Daclizumab(DB00111)|Efalizumab(DB00095)|Etanercept(DB00005)|Gemtuzumab ozogamicin(DB00056)|Ibritumomab(DB00078)|Immune globulin(DB00028)|Muromonab(DB00075)|Natalizumab(DB00108)|Palivizumab(DB00110)|Rituximab(DB00073)|Tositumomab(DB00081)|Trastuzumab(DB00072) GTTGAGCTTCGAATGTTTGTC 0.443000 5 168 0 0 0.184627 0 0 TLR6 10333 broad.mit.edu 37 4 38830532 38830532 + Missense_Mutation SNP G G A TCGA-44-5645-01A-01D-1625-08 TCGA-44-5645-11A-01D-1625-08 Untested Somatic Phase_I WXS none Illumina GAIIx dac33765-0c88-4a51-8389-c042ccb78c83 98d3effe-3109-4a06-a9f0-c152d576a1ff g.chr4:38830532G>A ENST00000436693.2 - 2 682 c.563C>T c.(562-564)aCa>aTa p.T188I TLR6_ENST00000381950.1_Missense_Mutation_p.T188I NM_006068.4 NP_006059.2 Q9Y2C9 TLR6_HUMAN toll-like receptor 6 188 activation of NF-kappaB-inducing kinase activity|cellular response to diacyl bacterial lipopeptide|defense response to bacterium|detection of diacyl bacterial lipopeptide|inflammatory response|innate immune response|MyD88-dependent toll-like receptor signaling pathway|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of interleukin-6 biosynthetic process|positive regulation of JUN kinase activity|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 4 signaling pathway integral to plasma membrane|phagocytic vesicle membrane lipopeptide binding|transmembrane receptor activity p.T188I(1) breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(7)|ovary(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 22 TAGACTTTCTGTCTCATTTTC 0.328000 8 35 0 0 0.307466 0 0 IRF3 3661 broad.mit.edu 37 19 50167985 50167985 + Silent SNP A A G TCGA-44-5645-01A-01D-1625-08 TCGA-44-5645-11A-01D-1625-08 Untested Somatic Phase_I WXS none Illumina GAIIx dac33765-0c88-4a51-8389-c042ccb78c83 98d3effe-3109-4a06-a9f0-c152d576a1ff g.chr19:50167985A>G ENST00000597198.1 - 2 492 c.111T>C c.(109-111)ccT>ccC p.P37P IRF3_ENST00000377135.4_Silent_p.P37P|IRF3_ENST00000596822.1_Intron|IRF3_ENST00000599223.1_Silent_p.P37P|IRF3_ENST00000600911.1_Silent_p.P37P|IRF3_ENST00000596765.1_Intron|IRF3_ENST00000593922.1_Intron|IRF3_ENST00000599144.1_Intron|IRF3_ENST00000601291.1_Silent_p.P37P|IRF3_ENST00000598808.1_Intron|IRF3_ENST00000377139.3_Silent_p.P37P|IRF3_ENST00000442265.2_Silent_p.P37P|IRF3_ENST00000309877.7_Silent_p.P37P|IRF3_ENST00000600022.1_Intron Q14653 IRF3_HUMAN interferon regulatory factor 3 37 interferon-gamma-mediated signaling pathway|interspecies interaction between organisms|MyD88-independent toll-like receptor signaling pathway|negative regulation of type I interferon production|response to virus|Toll signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway|transcription from RNA polymerase II promoter|type I interferon-mediated signaling pathway cytosol|endosome membrane|nucleoplasm|plasma membrane DNA binding|protein homodimerization activity|sequence-specific DNA binding transcription factor activity|transcription cofactor activity p.P37P(1) breast(1)|large_intestine(2)|lung(4)|ovary(2)|stomach(1) 10 all_lung(116;3.24e-07)|Lung NSC(112;1.6e-06)|all_neural(266;0.0459)|Ovarian(192;0.0728) OV - Ovarian serous cystadenocarcinoma(262;0.0011)|GBM - Glioblastoma multiforme(134;0.02) CGTGCTTCCAAGGGATGCGGA 0.657000 25 87 0 0 0.740014 0 0 EPHA3 2042 broad.mit.edu 37 3 89462377 89462377 + Missense_Mutation SNP G G T TCGA-44-5645-01A-01D-1625-08 TCGA-44-5645-11A-01D-1625-08 Untested Somatic Phase_I WXS none Illumina GAIIx dac33765-0c88-4a51-8389-c042ccb78c83 98d3effe-3109-4a06-a9f0-c152d576a1ff g.chr3:89462377G>T ENST00000336596.2 + 10 2074 c.1849G>T c.(1849-1851)Gat>Tat p.D617Y EPHA3_ENST00000494014.1_Missense_Mutation_p.D617Y NM_005233.5 NP_005224.2 P29320 EPHA3_HUMAN EPH receptor A3 617 extracellular region|integral to plasma membrane ATP binding p.D617Y(1) NS(1)|breast(4)|central_nervous_system(4)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(26)|liver(3)|lung(67)|ovary(7)|pancreas(1)|prostate(4)|skin(8)|stomach(1)|upper_aerodigestive_tract(5) 139 all_cancers(8;0.0406)|Melanoma(1;0.00142)|all_epithelial(1;0.0612) Lung NSC(201;0.0782) LUSC - Lung squamous cell carcinoma(29;0.00344)|Lung(72;0.00942) CAAGGAATTGGATGCCACCAA 0.433000 TSP Lung(6;0.00050) 21 62 2.37509e-13 2.77841e-13 0.592651 1 0 CABLES1 91768 broad.mit.edu 37 18 20814573 20814573 + Splice_Site SNP G G A TCGA-44-5645-01A-01D-1625-08 TCGA-44-5645-11A-01D-1625-08 Untested Somatic Phase_I WXS none Illumina GAIIx dac33765-0c88-4a51-8389-c042ccb78c83 98d3effe-3109-4a06-a9f0-c152d576a1ff g.chr18:20814573G>A ENST00000256925.7 + 5 1090 c.1088_splice c.e5-1 p.D364_splice CABLES1_ENST00000420687.2_Splice_Site_p.D99_splice|CABLES1_ENST00000585061.1_Intron|TMEM241_ENST00000450466.2_Intron|CABLES1_ENST00000400473.2_Splice_Site_p.D37_splice NM_001100619.2 NP_001094089.1 Q8TDN4 CABL1_HUMAN Cdk5 and Abl enzyme substrate 1 364 Interacts with CDK3 (By similarity). blood coagulation|cell cycle|cell division|regulation of cell cycle|regulation of cell division cytosol|nucleus cyclin-dependent protein kinase regulator activity|protein binding p.D364N(1) breast(1)|kidney(2)|large_intestine(1)|lung(4)|ovary(1)|prostate(1)|stomach(1) 11 all_cancers(21;0.000102)|all_epithelial(16;2.48e-06)|Lung NSC(20;0.00696)|all_lung(20;0.0197)|Colorectal(14;0.0202)|Ovarian(20;0.127) TCCTCCCAGGGACTTGAAGTT 0.478000 7 9 0 0 0.307466 0 0 ZMIZ2 83637 broad.mit.edu 37 7 44806175 44806175 + Silent SNP G G A TCGA-44-5645-01A-01D-1625-08 TCGA-44-5645-11A-01D-1625-08 Untested Somatic Phase_I WXS none Illumina GAIIx dac33765-0c88-4a51-8389-c042ccb78c83 98d3effe-3109-4a06-a9f0-c152d576a1ff g.chr7:44806175G>A ENST00000309315.4 + 18 2691 c.2568G>A c.(2566-2568)acG>acA p.T856T ZMIZ2_ENST00000441627.1_Silent_p.T856T|ZMIZ2_ENST00000433667.1_Silent_p.T824T|ZMIZ2_ENST00000413916.1_Silent_p.T798T|ZMIZ2_ENST00000265346.7_Silent_p.T830T|ZMIZ2_ENST00000463931.1_3'UTR NM_031449.3 NP_113637.3 Q8NF64 ZMIZ2_HUMAN zinc finger, MIZ-type containing 2 856 Pro-rich. positive regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent nuclear replication fork ligand-dependent nuclear receptor transcription coactivator activity|protein binding|zinc ion binding p.T856T(1) breast(3)|endometrium(2)|kidney(3)|large_intestine(6)|lung(10)|ovary(6)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 35 TAGGACCTACGGGTGAACTGG 0.662000 23 63 0 0 0.654019 0 0 WBP2NL 164684 broad.mit.edu 37 22 42415801 42415801 + Missense_Mutation SNP C C T TCGA-44-5645-01A-01D-1625-08 TCGA-44-5645-11A-01D-1625-08 Untested Somatic Phase_I WXS none Illumina GAIIx dac33765-0c88-4a51-8389-c042ccb78c83 98d3effe-3109-4a06-a9f0-c152d576a1ff g.chr22:42415801C>T ENST00000328823.9 + 3 338 c.307C>T c.(307-309)Cca>Tca p.P103S WBP2NL_ENST00000543212.1_Missense_Mutation_p.P29S NM_152613.2 NP_689826.2 Q6ICG8 WBP2L_HUMAN WBP2 N-terminal like 103 egg activation|male pronucleus assembly|meiosis perinuclear theca WW domain binding p.P103S(1) breast(2)|large_intestine(3)|lung(5)|ovary(3)|prostate(1) 14 TCAGGCAGCTCCATATGGTAA 0.363000 30 74 0 0 0.740014 0 0 LAMB1 3912 broad.mit.edu 37 7 107626714 107626714 + Missense_Mutation SNP G G A TCGA-44-5645-01A-01D-1625-08 TCGA-44-5645-11A-01D-1625-08 Untested Somatic Phase_I WXS none Illumina GAIIx dac33765-0c88-4a51-8389-c042ccb78c83 98d3effe-3109-4a06-a9f0-c152d576a1ff g.chr7:107626714G>A ENST00000393561.1 - 4 774 c.590C>T c.(589-591)tCg>tTg p.S197L LAMB1_ENST00000393560.1_Missense_Mutation_p.S173L|LAMB1_ENST00000222399.6_Missense_Mutation_p.S173L P07942 LAMB1_HUMAN laminin, beta 1 173 Laminin N-terminal. axon guidance|odontogenesis|positive regulation of cell migration|positive regulation of epithelial cell proliferation|substrate adhesion-dependent cell spreading extracellular space|laminin-1 complex|laminin-10 complex|laminin-2 complex|laminin-8 complex|perinuclear region of cytoplasm extracellular matrix structural constituent p.S173L(1) NS(3)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(4)|large_intestine(11)|lung(37)|ovary(6)|prostate(5)|skin(5)|upper_aerodigestive_tract(3) 82 Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Tenecteplase(DB00031) GCCTGGAAACGAGGCCTCACA 0.453000 6 106 0 0 0.278610 0 0 ATP8B4 79895 broad.mit.edu 37 15 50211114 50211114 + Nonsense_Mutation SNP G G A TCGA-44-5645-01A-01D-1625-08 TCGA-44-5645-11A-01D-1625-08 Untested Somatic Phase_I WXS none Illumina GAIIx dac33765-0c88-4a51-8389-c042ccb78c83 98d3effe-3109-4a06-a9f0-c152d576a1ff g.chr15:50211114G>A ENST00000284509.6 - 19 2098 c.1957C>T c.(1957-1959)Cag>Tag p.Q653* ATP8B4_ENST00000559829.1_Nonsense_Mutation_p.Q653* NM_024837.2 NP_079113.2 Q8TF62 AT8B4_HUMAN ATPase, class I, type 8B, member 4 653 ATP biosynthetic process integral to membrane ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|magnesium ion binding|phospholipid-translocating ATPase activity p.Q653*(1) breast(6)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(14)|lung(27)|ovary(2)|pancreas(1)|prostate(1)|skin(7)|urinary_tract(1) 73 all_lung(180;0.00183) all cancers(107;2.41e-07)|GBM - Glioblastoma multiforme(94;8.28e-05) ACACCCTCCTGTAACTTATCT 0.343000 20 95 0 0 0.624587 0 0 GRM5 2915 broad.mit.edu 37 11 88780796 88780796 + Missense_Mutation SNP T T C TCGA-44-5645-01A-01D-1625-08 TCGA-44-5645-11A-01D-1625-08 Untested Somatic Phase_I WXS none Illumina GAIIx dac33765-0c88-4a51-8389-c042ccb78c83 98d3effe-3109-4a06-a9f0-c152d576a1ff g.chr11:88780796T>C ENST00000418177.2 - 2 612 c.245A>G c.(244-246)gAc>gGc p.D82G GRM5_ENST00000305447.4_Missense_Mutation_p.D82G|GRM5_ENST00000393297.1_Missense_Mutation_p.D82G|GRM5_ENST00000393294.3_Missense_Mutation_p.D82G|GRM5_ENST00000455756.2_Missense_Mutation_p.D82G|GRM5_ENST00000305432.5_Missense_Mutation_p.D82G P41594 GRM5_HUMAN glutamate receptor, metabotropic 5 82 activation of phospholipase C activity by metabotropic glutamate receptor signaling pathway|synaptic transmission integral to plasma membrane G-protein coupled receptor activity|glutamate receptor activity p.D82G(2) NS(1)|breast(5)|central_nervous_system(4)|endometrium(5)|kidney(3)|large_intestine(18)|lung(40)|ovary(3)|pancreas(1)|prostate(4)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2) 90 Acute lymphoblastic leukemia(157;2.54e-05)|all_hematologic(158;0.00834) Acamprosate(DB00659) GAGTGTGGGGTCTGAATTGAT 0.527000 13 16 0 0 0.500413 0 0 TP53 7157 broad.mit.edu 37 17 7573967 7573967 + Nonsense_Mutation SNP G G A TCGA-44-5645-01A-01D-1625-08 TCGA-44-5645-11A-01D-1625-08 Untested Somatic Phase_I WXS none Illumina GAIIx dac33765-0c88-4a51-8389-c042ccb78c83 98d3effe-3109-4a06-a9f0-c152d576a1ff g.chr17:7573967G>A ENST00000269305.4 - 10 1249 c.1060C>T c.(1060-1062)Cag>Tag p.Q354* TP53_ENST00000455263.2_3'UTR|TP53_ENST00000359597.4_Intron|TP53_ENST00000420246.2_3'UTR|TP53_ENST00000413465.2_Intron|TP53_ENST00000445888.2_Nonsense_Mutation_p.Q354* NM_000546.5|NM_001126112.2|NM_001126118.1|NM_001276760.1|NM_001276761.1 NP_000537.3|NP_001119584.1|NP_001119590.1|NP_001263689.1|NP_001263690.1 P04637 P53_HUMAN tumor protein p53 354 Interaction with CARM1.|Interaction with HIPK1 (By similarity).|Interaction with HIPK2.|Oligomerization. Q -> E (in a sporadic cancer; somatic mutation).|Q -> K (in a sporadic cancer; somatic mutation).|Q -> R (in sporadic cancers; 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.0?(8)|p.Q354*(2)|p.I332fs*5(1)|p.Q354K(1)|p.?(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) TTCCCAGCCTGGGCATCCTTG 0.597000 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) 4 18 0 0 0.184627 0 0 CAMK2D 817 broad.mit.edu 37 4 114530323 114530323 + Missense_Mutation SNP T T C TCGA-44-5645-01A-01D-1625-08 TCGA-44-5645-11A-01D-1625-08 Untested Somatic Phase_I WXS none Illumina GAIIx dac33765-0c88-4a51-8389-c042ccb78c83 98d3effe-3109-4a06-a9f0-c152d576a1ff g.chr4:114530323T>C ENST00000454265.2 - 4 1118 c.260A>G c.(259-261)tAc>tGc p.Y87C CAMK2D_ENST00000508738.1_Missense_Mutation_p.Y87C|CAMK2D_ENST00000429180.1_Missense_Mutation_p.Y87C|CAMK2D_ENST00000511664.1_Missense_Mutation_p.Y87C|CAMK2D_ENST00000505990.1_Missense_Mutation_p.Y87C|CAMK2D_ENST00000296402.5_Missense_Mutation_p.Y87C|CAMK2D_ENST00000342666.5_Missense_Mutation_p.Y87C|CAMK2D_ENST00000514328.1_Missense_Mutation_p.Y87C|CAMK2D_ENST00000379773.2_Missense_Mutation_p.Y87C|CAMK2D_ENST00000418639.2_Missense_Mutation_p.Y87C|CAMK2D_ENST00000394526.2_Missense_Mutation_p.Y87C|CAMK2D_ENST00000515496.1_Missense_Mutation_p.Y87C|CAMK2D_ENST00000394522.3_Missense_Mutation_p.Y87C|CAMK2D_ENST00000394524.3_Missense_Mutation_p.Y87C Q13557 KCC2D_HUMAN calcium/calmodulin-dependent protein kinase II delta 87 Protein kinase. interferon-gamma-mediated signaling pathway|regulation of cell growth|synaptic transmission calcium- and calmodulin-dependent protein kinase complex|cytosol|endocytic vesicle membrane|nucleoplasm|plasma membrane ATP binding|calmodulin binding|calmodulin-dependent protein kinase activity p.Y87C(1) breast(2)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(3)|ovary(1)|prostate(1) 13 Ovarian(17;0.00369)|Hepatocellular(203;0.217) OV - Ovarian serous cystadenocarcinoma(123;0.000271) AAACACCAAGTAGTGAAAGCC 0.323000 23 34 0 0 0.706142 0 0 SCN5A 6331 broad.mit.edu 37 3 38592973 38592973 + Silent SNP T T A TCGA-44-5645-01A-01D-1625-08 TCGA-44-5645-11A-01D-1625-08 Untested Somatic Phase_I WXS none Illumina GAIIx dac33765-0c88-4a51-8389-c042ccb78c83 98d3effe-3109-4a06-a9f0-c152d576a1ff g.chr3:38592973T>A ENST00000413689.1 - 28 5083 c.4890A>T c.(4888-4890)atA>atT p.I1630I SCN5A_ENST00000425664.1_Silent_p.I1612I|SCN5A_ENST00000443581.1_Silent_p.I1629I|SCN5A_ENST00000451551.2_Silent_p.I1576I|SCN5A_ENST00000423572.2_Silent_p.I1629I|SCN5A_ENST00000449557.2_Silent_p.I1576I|SCN5A_ENST00000450102.2_Silent_p.I1576I|SCN5A_ENST00000333535.4_Silent_p.I1630I|SCN5A_ENST00000414099.2_Silent_p.I1612I|SCN5A_ENST00000455624.2_Silent_p.I1597I NM_001099404.1|NM_001160160.1 NP_001092874.1|NP_001153632.1 Q14524 SCN5A_HUMAN sodium channel, voltage-gated, type V, alpha subunit 1630 blood circulation|cellular response to calcium ion|muscle contraction|regulation of heart contraction sarcolemma|voltage-gated sodium channel complex protein binding|voltage-gated sodium channel activity p.I1630I(2) NS(3)|breast(2)|central_nervous_system(3)|cervix(2)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(25)|lung(27)|ovary(6)|pancreas(3)|prostate(10)|skin(9)|upper_aerodigestive_tract(4) 107 Medulloblastoma(35;0.163) KIRC - Kidney renal clear cell carcinoma(284;0.0822)|Kidney(284;0.1) Benzonatate(DB00868)|Bepridil(DB01244)|Carbamazepine(DB00564)|Cocaine(DB00907)|Dibucaine(DB00527)|Disopyramide(DB00280)|Encainide(DB01228)|Ethotoin(DB00754)|Flecainide(DB01195)|Fosphenytoin(DB01320)|Hexylcaine(DB00473)|Indecainide(DB00192)|Lamotrigine(DB00555)|Lidocaine(DB00281)|Mephenytoin(DB00532)|Mexiletine(DB00379)|Mibefradil(DB01388)|Moricizine(DB00680)|Oxcarbazepine(DB00776)|Phenytoin(DB00252)|Prilocaine(DB00750)|Procainamide(DB01035)|Propafenone(DB01182)|Quinidine(DB00908)|Riluzole(DB00740)|Tocainide(DB01056)|Verapamil(DB00661) GGATGCGGCCTATTCGGGCCA 0.597000 18 60 0 0 0.592651 0 0 UBQLN1 29979 broad.mit.edu 37 9 86276788 86276788 + Missense_Mutation SNP G G T TCGA-44-5645-01A-01D-1625-08 TCGA-44-5645-11A-01D-1625-08 Untested Somatic Phase_I WXS none Illumina GAIIx dac33765-0c88-4a51-8389-c042ccb78c83 98d3effe-3109-4a06-a9f0-c152d576a1ff g.chr9:86276788G>T ENST00000376395.4 - 11 2207 c.1684C>A c.(1684-1686)Cgt>Agt p.R562S UBQLN1_ENST00000257468.7_Missense_Mutation_p.R534S NM_013438.4|NM_053067.2 NP_038466.2|NP_444295.1 Q9UMX0 UBQL1_HUMAN ubiquilin 1 562 UBA. apoptosis|regulation of protein ubiquitination|response to hypoxia endoplasmic reticulum|nucleus|perinuclear region of cytoplasm|proteasome complex kinase binding p.R562S(1) breast(4)|endometrium(2)|kidney(4)|large_intestine(6)|lung(10)|prostate(1) 27 TTTGCTTCACGGTTCAAAAAT 0.388000 4 82 0.150653 0.158314 0.150653 1 0 CIB3 117286 broad.mit.edu 37 19 16284278 16284278 + Missense_Mutation SNP G G T TCGA-44-5645-01A-01D-1625-08 TCGA-44-5645-11A-01D-1625-08 Untested Somatic Phase_I WXS none Illumina GAIIx dac33765-0c88-4a51-8389-c042ccb78c83 98d3effe-3109-4a06-a9f0-c152d576a1ff g.chr19:16284278G>T ENST00000269878.4 - 1 58 c.9C>A c.(7-9)aaC>aaA p.N3K CIB3_ENST00000541493.1_5'UTR|CIB3_ENST00000379859.3_Missense_Mutation_p.N3K NM_054113.2 NP_473454.1 Q96Q77 CIB3_HUMAN calcium and integrin binding family member 3 3 calcium ion binding p.N3K(1) cervix(1)|endometrium(4)|kidney(1)|large_intestine(3)|lung(4)|ovary(1)|skin(2) 16 CTGTCTGCTTGTTGCCCATGG 0.592000 19 52 1.28384e-07 1.44724e-07 0.608945 1 0 HAX1 10456 broad.mit.edu 37 1 154245864 154245866 + In_Frame_Del DEL GAA GAA - rs11556342 TCGA-44-5645-01A-01D-1625-08 TCGA-44-5645-10A-01D-1625-08 Untested Somatic Phase_I WXS none Illumina GAIIx dac33765-0c88-4a51-8389-c042ccb78c83 7f4b8638-3af7-4e03-b4c3-0a46afb3e2f7 g.chr1:154245864_154245866delGAA ENST00000328703.7 + 2 319_321 c.106_108delGAA c.(106-108)del p.E40del HAX1_ENST00000532105.1_Intron|HAX1_ENST00000457918.2_Intron|HAX1_ENST00000483970.2_In_Frame_Del_p.E40del NM_006118.3 NP_006109.2 O00165 HAX1_HUMAN HCLS1 associated protein X-1 40 Asp/Glu-rich (highly acidic).|Required for localization in mitochondria (By similarity). actin cytoskeleton|cytoplasmic membrane-bounded vesicle|lamellipodium|mitochondrion|nuclear membrane|sarcoplasmic reticulum|soluble fraction interleukin-1 binding|protein N-terminus binding cervix(1)|endometrium(2)|large_intestine(2)|lung(8)|prostate(1)|upper_aerodigestive_tract(1) 15 all_lung(78;2.62e-30)|Lung NSC(65;3.94e-28)|Hepatocellular(266;0.0877) LUSC - Lung squamous cell carcinoma(543;0.185) TGATGATGAGGAAGAAGAAGAAG 0.522 Kostmann syndrome 7 82 --- --- --- --- H3F3AP4 440926 broad.mit.edu 37 2 175585079 175585079 + RNA DEL A A - TCGA-44-5645-01A-01D-1625-08 TCGA-44-5645-10A-01D-1625-08 Untested Somatic Phase_I WXS none Illumina GAIIx dac33765-0c88-4a51-8389-c042ccb78c83 7f4b8638-3af7-4e03-b4c3-0a46afb3e2f7 g.chr2:175585079delA ENST00000442996.1 + 0 217 TTTCATTCTCAAAAAAAAAAA 0.368 OREG0015078 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 3 3 --- --- --- --- PTPN23 25930 broad.mit.edu 37 3 47452143 47452144 + In_Frame_Ins INS - - GCCCCA TCGA-44-5645-01A-01D-1625-08 TCGA-44-5645-10A-01D-1625-08 Untested Somatic Phase_I WXS none Illumina GAIIx dac33765-0c88-4a51-8389-c042ccb78c83 7f4b8638-3af7-4e03-b4c3-0a46afb3e2f7 g.chr3:47452143_47452144insGCCCCA ENST00000265562.4 + 20 2932_2933 c.2855_2856insGCCCCA c.(2854-2856)gcc>gGCCCCAcc p.952_952A>GPT PTPN23_ENST00000431726.1_In_Frame_Ins_p.826_826A>GPT NM_015466.2 NP_056281.1 Q9H3S7 PTN23_HUMAN protein tyrosine phosphatase, non-receptor type 23 952 His.|Pro-rich. cilium morphogenesis cilium|cytoplasmic membrane-bounded vesicle|microtubule basal body protein tyrosine phosphatase activity breast(3)|central_nervous_system(1)|large_intestine(5)|lung(7)|prostate(2)|skin(4)|upper_aerodigestive_tract(1) 23 BRCA - Breast invasive adenocarcinoma(193;0.000271)|KIRC - Kidney renal clear cell carcinoma(197;0.00558)|Kidney(197;0.00632) CCAAGGATTGGgccccagcccc 0.634 5 6 --- --- --- --- RP11-1166P10.6 0 broad.mit.edu 37 16 32077916 32077917 + RNA INS - - TTT rs139112308 by1000genomes TCGA-44-5645-01A-01D-1625-08 TCGA-44-5645-10A-01D-1625-08 Untested Somatic Phase_I WXS none Illumina GAIIx dac33765-0c88-4a51-8389-c042ccb78c83 7f4b8638-3af7-4e03-b4c3-0a46afb3e2f7 g.chr16:32077916_32077917insTTT ENST00000566806.1 - 0 499 ATGGAAAACGGTTATTTTTTTG 0.421 3 4 --- --- --- --- CYP4F2 8529 broad.mit.edu 37 19 15996864 15996865 + Splice_Site INS - - T TCGA-44-5645-01A-01D-1625-08 TCGA-44-5645-10A-01D-1625-08 Untested Somatic Phase_I WXS none Illumina GAIIx dac33765-0c88-4a51-8389-c042ccb78c83 7f4b8638-3af7-4e03-b4c3-0a46afb3e2f7 g.chr19:15996864_15996865insT ENST00000221700.5 - 9 1081 c.e9-1 CYP4F2_ENST00000592328.1_Splice_Site|CYP4F2_ENST00000011989.7_Splice_Site NM_001082.3 NP_001073.3 P78329 CP4F2_HUMAN cytochrome P450, family 4, subfamily F, polypeptide 2 leukotriene metabolic process|long-chain fatty acid metabolic process|very long-chain fatty acid metabolic process|xenobiotic metabolic process endoplasmic reticulum membrane|microsome alkane 1-monooxygenase activity|electron carrier activity|heme binding|leukotriene-B4 20-monooxygenase activity|oxygen binding|protein binding NS(2)|breast(1)|endometrium(6)|kidney(2)|large_intestine(9)|liver(1)|lung(18)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1) 46 GTGTCATGGCCTGGGGGGCAGC 0.629 19 66 --- --- --- --- BHLHB9 80823 broad.mit.edu 37 X 102004419 102004421 + In_Frame_Del DEL GAG GAG - TCGA-44-5645-01A-01D-1625-08 TCGA-44-5645-10A-01D-1625-08 Untested Somatic Phase_I WXS none Illumina GAIIx dac33765-0c88-4a51-8389-c042ccb78c83 7f4b8638-3af7-4e03-b4c3-0a46afb3e2f7 g.chrX:102004419_102004421delGAG ENST00000372735.1 + 4 1081_1083 c.496_498delGAG c.(496-498)del p.E171del BHLHB9_ENST00000457056.1_In_Frame_Del_p.E171del|BHLHB9_ENST00000447531.1_In_Frame_Del_p.E171del|BHLHB9_ENST00000448867.1_In_Frame_Del_p.E171del|BHLHB9_ENST00000361229.4_In_Frame_Del_p.E171del Q6PI77 BHLH9_HUMAN basic helix-loop-helix domain containing, class B, 9 171 Poly-Glu. cytoplasm|nucleus binding cervix(1)|endometrium(6)|kidney(3)|large_intestine(1)|lung(8)|ovary(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 26 GTCAGGGGCTGAGGAGGAGGAGG 0.488 8 195 --- --- --- --- CHEK1 1111 broad.mit.edu 37 11 125505377 125505378 + Frame_Shift_Ins INS - - A rs35817404 TCGA-44-5645-01A-01D-1625-08 TCGA-44-5645-11A-01D-1625-08 Untested Somatic Phase_I WXS none Illumina GAIIx dac33765-0c88-4a51-8389-c042ccb78c83 98d3effe-3109-4a06-a9f0-c152d576a1ff g.chr11:125505377_125505378insA ENST00000534070.1 + 7 922_923 c.667_668insA c.(667-669)aaafs p.K223fs CHEK1_ENST00000278916.3_Frame_Shift_Ins_p.K223fs|CHEK1_ENST00000524737.1_Frame_Shift_Ins_p.K223fs|CHEK1_ENST00000428830.2_Frame_Shift_Ins_p.K223fs|CHEK1_ENST00000532449.1_3'UTR|CHEK1_ENST00000438015.1_Frame_Shift_Ins_p.K223fs|CHEK1_ENST00000427383.2_Frame_Shift_Ins_p.K239fs|CHEK1_ENST00000544373.1_Frame_Shift_Ins_p.K223fs NM_001274.5 NP_001265.2 O14757 CHK1_HUMAN checkpoint kinase 1 223 Protein kinase. E -> V (in dbSNP:rs35817404). cellular response to mechanical stimulus|DNA repair|DNA replication|gamete generation|negative regulation of cell proliferation|reciprocal meiotic recombination|regulation of cyclin-dependent protein kinase activity|replicative senescence condensed nuclear chromosome|microtubule organizing center|nucleoplasm ATP binding|protein binding|protein serine/threonine kinase activity central_nervous_system(3)|endometrium(3)|large_intestine(2)|lung(16)|skin(1)|upper_aerodigestive_tract(1) 26 all_hematologic(175;0.228) Breast(109;0.0021)|Lung NSC(97;0.0126)|all_lung(97;0.0132)|Medulloblastoma(222;0.0425)|all_neural(223;0.112) BRCA - Breast invasive adenocarcinoma(274;1.13e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0748) TGACTGGAAAGAAAAAAAAACA 0.361 Other conserved DNA damage response genes 8 196 --- --- --- --- NPIPB1P 729602 broad.mit.edu 37 18 11625378 11625379 + RNA INS - - A rs141097667 TCGA-44-5645-01A-01D-1625-08 TCGA-44-5645-11A-01D-1625-08 Untested Somatic Phase_I WXS none Illumina GAIIx dac33765-0c88-4a51-8389-c042ccb78c83 98d3effe-3109-4a06-a9f0-c152d576a1ff g.chr18:11625378_11625379insA ENST00000547442.1 - 0 621 CTCTTCCCCCGAAAAATGACAA 0.401 2 4 --- --- --- --- CYP4F2 8529 broad.mit.edu 37 19 15996864 15996865 + Splice_Site INS - - T TCGA-44-5645-01A-01D-1625-08 TCGA-44-5645-11A-01D-1625-08 Untested Somatic Phase_I WXS none Illumina GAIIx dac33765-0c88-4a51-8389-c042ccb78c83 98d3effe-3109-4a06-a9f0-c152d576a1ff g.chr19:15996864_15996865insT ENST00000221700.5 - 9 1081 c.e9-1 CYP4F2_ENST00000011989.7_Splice_Site|CYP4F2_ENST00000592328.1_Splice_Site NM_001082.3 NP_001073.3 P78329 CP4F2_HUMAN cytochrome P450, family 4, subfamily F, polypeptide 2 leukotriene metabolic process|long-chain fatty acid metabolic process|very long-chain fatty acid metabolic process|xenobiotic metabolic process endoplasmic reticulum membrane|microsome alkane 1-monooxygenase activity|electron carrier activity|heme binding|leukotriene-B4 20-monooxygenase activity|oxygen binding|protein binding NS(2)|breast(1)|endometrium(6)|kidney(2)|large_intestine(9)|liver(1)|lung(18)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1) 46 GTGTCATGGCCTGGGGGGCAGC 0.629 19 66 --- --- --- --- KIZ-AS1 101929591 broad.mit.edu 37 20 21142454 21142455 + RNA INS - - C rs45603533 by1000genomes TCGA-44-5645-01A-01D-1625-08 TCGA-44-5645-11A-01D-1625-08 Untested Somatic Phase_I WXS none Illumina GAIIx dac33765-0c88-4a51-8389-c042ccb78c83 98d3effe-3109-4a06-a9f0-c152d576a1ff g.chr20:21142454_21142455insC ENST00000591761.1 - 0 5142 PLK1S1_ENST00000457464.1_RNA|RP5-872K7.7_ENST00000425746.2_RNA AAAAAAAAAAACCCCACCTAAT 0.376 6 9 --- --- --- ---