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 AL132709.5 0 broad.mit.edu 37 14 101423566 101423566 + RNA SNP G G A TCGA-HT-7477-01B-11D-A289-08 TCGA-HT-7477-10A-01D-A289-08 Untested Somatic Phase_I WXS none Illumina GAIIx e4c150f7-c19e-4f15-b67f-67af9eb7f46c 60866491-f68b-4adc-9d4e-3d5241788660 g.chr14:101423566G>A ENST00000556637.1 + 0 464 SNORD114-6_ENST00000364393.1_RNA CTGGAACTCTGAGGTCCAAGA 0.333000 5 31 0 0 1 0 0 KAT6A 7994 broad.mit.edu 37 8 41790659 41790659 + Silent SNP T T G TCGA-HT-7477-01B-11D-A289-08 TCGA-HT-7477-10A-01D-A289-08 Untested Somatic Phase_I WXS none Illumina GAIIx e4c150f7-c19e-4f15-b67f-67af9eb7f46c 60866491-f68b-4adc-9d4e-3d5241788660 g.chr8:41790659T>G ENST00000396930.3 - 18 5622 c.5079A>C c.(5077-5079)ccA>ccC p.P1693P KAT6A_ENST00000265713.2_Silent_p.P1693P|KAT6A_ENST00000406337.1_Silent_p.P1693P NM_001099412.1 NP_001092882.1 Q92794 MYST3_HUMAN K(lysine) acetyltransferase 6A 1693 Gln/Pro-rich. histone H3 acetylation|myeloid cell differentiation|negative regulation of transcription, DNA-dependent|nucleosome assembly|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent MOZ/MORF histone acetyltransferase complex|nucleosome DNA binding|histone acetyltransferase activity|transcription coactivator activity|transcription factor binding|zinc ion binding ggggagggggtgggggtggag 0.627000 5 13 0 0 1 0 0 PRMT8 56341 broad.mit.edu 37 12 3649787 3649787 + Missense_Mutation SNP T T C TCGA-HT-7477-01B-11D-A289-08 TCGA-HT-7477-10A-01D-A289-08 Untested Somatic Phase_I WXS none Illumina GAIIx e4c150f7-c19e-4f15-b67f-67af9eb7f46c 60866491-f68b-4adc-9d4e-3d5241788660 g.chr12:3649787T>C ENST00000382622.3 + 2 481 c.91T>C c.(91-93)Tcc>Ccc p.S31P PRMT8_ENST00000261252.4_3'UTR|PRMT8_ENST00000452611.2_Missense_Mutation_p.S22P NM_019854.4 NP_062828.3 Q9NR22 ANM8_HUMAN protein arginine methyltransferase 8 31 regulation of protein binding cytoplasm|plasma membrane histone-arginine N-methyltransferase activity|protein heterodimerization activity|protein homodimerization activity|protein-arginine omega-N asymmetric methyltransferase activity|protein-arginine omega-N monomethyltransferase activity breast(1)|central_nervous_system(2)|endometrium(1)|kidney(1)|large_intestine(9)|lung(14)|ovary(3)|skin(5)|upper_aerodigestive_tract(1) 37 OV - Ovarian serous cystadenocarcinoma(31;0.0109)|COAD - Colon adenocarcinoma(12;0.0264) CAGCCCCCCCTCCCAGCCCCC 0.652000 11 110 0 0 1 0 0 SCUBE1 80274 broad.mit.edu 37 22 43606074 43606074 + Silent SNP G G A TCGA-HT-7477-01B-11D-A289-08 TCGA-HT-7477-10A-01D-A289-08 Untested Somatic Phase_I WXS none Illumina GAIIx e4c150f7-c19e-4f15-b67f-67af9eb7f46c 60866491-f68b-4adc-9d4e-3d5241788660 g.chr22:43606074G>A ENST00000360835.3 - 19 2682 c.2556C>T c.(2554-2556)ggC>ggT p.G852G NM_173050.3 NP_766638.2 Q8IWY4 SCUB1_HUMAN signal peptide, CUB domain, EGF-like 1 852 CUB. adult heart development|blood coagulation|endothelial cell differentiation|inflammatory response|post-embryonic development|protein homooligomerization external side of plasma membrane|extracellular space|extrinsic to plasma membrane calcium ion binding|identical protein binding|protein heterodimerization activity autonomic_ganglia(1)|breast(1)|central_nervous_system(2)|endometrium(2)|kidney(4)|large_intestine(4)|lung(11)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 31 all_neural(38;0.0414)|Ovarian(80;0.07) CCAGAACATCGCCGCACTCAT 0.632000 45 14 0 0 1 0 0 RIMS1 0 broad.mit.edu 37 6 72967911 72967911 + Missense_Mutation SNP C C T TCGA-HT-7477-01B-11D-A289-08 TCGA-HT-7477-10A-01D-A289-08 Untested Somatic Phase_I WXS none Illumina GAIIx e4c150f7-c19e-4f15-b67f-67af9eb7f46c 60866491-f68b-4adc-9d4e-3d5241788660 g.chr6:72967911C>T ENST00000264839.7 + 17 2854 c.2854C>T c.(2854-2856)Cgt>Tgt p.R952C RIMS1_ENST00000520567.1_Missense_Mutation_p.R951C|RIMS1_ENST00000518273.1_Missense_Mutation_p.R952C|RIMS1_ENST00000517960.1_Missense_Mutation_p.R951C|RIMS1_ENST00000491071.2_Missense_Mutation_p.R952C|RIMS1_ENST00000425662.2_Missense_Mutation_p.R345C|RIMS1_ENST00000522291.1_Missense_Mutation_p.R951C|RIMS1_ENST00000401910.3_Missense_Mutation_p.R425C|RIMS1_ENST00000348717.5_Missense_Mutation_p.R951C|RIMS1_ENST00000538414.1_5'UTR|RIMS1_ENST00000523963.1_Missense_Mutation_p.R426C|RIMS1_ENST00000517827.1_Missense_Mutation_p.R411C|RIMS1_ENST00000521978.1_Missense_Mutation_p.R952C Q86UR5 RIMS1_HUMAN regulating synaptic membrane exocytosis 1 952 calcium ion-dependent exocytosis|cellular membrane fusion|glutamate secretion|intracellular protein transport|protein complex assembly|regulated secretory pathway|response to stimulus|synaptic vesicle exocytosis|visual perception cell junction|presynaptic membrane metal ion binding|Rab GTPase binding NS(1)|breast(2)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(25)|liver(4)|lung(35)|ovary(9)|pancreas(3)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1) 102 all_epithelial(107;0.179)|all_hematologic(105;0.212) TCACCGCTCACGTTCAGTATC 0.463000 12 18 0 0 1 0 0 RYR3 6263 broad.mit.edu 37 15 34040420 34040420 + Missense_Mutation SNP C C T TCGA-HT-7477-01B-11D-A289-08 TCGA-HT-7477-10A-01D-A289-08 Untested Somatic Phase_I WXS none Illumina GAIIx e4c150f7-c19e-4f15-b67f-67af9eb7f46c 60866491-f68b-4adc-9d4e-3d5241788660 g.chr15:34040420C>T ENST00000389232.4 + 54 8165 c.8095C>T c.(8095-8097)Cgg>Tgg p.R2699W RYR3_ENST00000415757.3_Missense_Mutation_p.R2699W NM_001036.3 NP_001027.3 Q15413 RYR3_HUMAN ryanodine receptor 3 2699 4 X approximate repeats. cellular calcium ion homeostasis integral to membrane calcium ion binding|receptor activity|ryanodine-sensitive calcium-release channel activity NS(3)|breast(9)|central_nervous_system(8)|cervix(2)|endometrium(29)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(55)|lung(148)|ovary(7)|pancreas(1)|prostate(13)|skin(4)|stomach(1)|upper_aerodigestive_tract(8)|urinary_tract(3) 311 all_lung(180;7.18e-09) all cancers(64;8.95e-12)|GBM - Glioblastoma multiforme(186;0.00109)|BRCA - Breast invasive adenocarcinoma(123;0.0363) GGTTCAACAGCGGGAAAATGA 0.567000 4 70 0 0 1 0 0 FUT10 84750 broad.mit.edu 37 8 33246920 33246920 + Missense_Mutation SNP T T C TCGA-HT-7477-01B-11D-A289-08 TCGA-HT-7477-10A-01D-A289-08 Untested Somatic Phase_I WXS none Illumina GAIIx e4c150f7-c19e-4f15-b67f-67af9eb7f46c 60866491-f68b-4adc-9d4e-3d5241788660 g.chr8:33246920T>C ENST00000327671.5 - 4 1404 c.773A>G c.(772-774)aAt>aGt p.N258S FUT10_ENST00000524021.1_Missense_Mutation_p.N230S|FUT10_ENST00000335589.3_Missense_Mutation_p.N196S|FUT10_ENST00000518076.1_5'UTR|FUT10_ENST00000518672.1_Missense_Mutation_p.N230S NM_032664.3 NP_116053.3 Q6P4F1 FUT10_HUMAN fucosyltransferase 10 (alpha (1,3) fucosyltransferase) 258 embryo development|fertilization|hemopoiesis|L-fucose catabolic process|nervous system development|protein folding|protein glycosylation|protein targeting|wound healing Golgi cisterna membrane|integral to membrane alpha(1,3)-fucosyltransferase activity cervix(1)|endometrium(1)|large_intestine(7)|liver(1)|lung(9)|ovary(1)|pancreas(1)|prostate(3)|stomach(3)|upper_aerodigestive_tract(2) 29 KIRC - Kidney renal clear cell carcinoma(67;0.129)|Kidney(114;0.154) AGAGGCTGGATTTTTCAGCTG 0.438000 59 76 0 0 1 0 0 VEZF1 7716 broad.mit.edu 37 17 56060673 56060673 + Missense_Mutation SNP C C G TCGA-HT-7477-01B-11D-A289-08 TCGA-HT-7477-10A-01D-A289-08 Untested Somatic Phase_I WXS none Illumina GAIIx e4c150f7-c19e-4f15-b67f-67af9eb7f46c 60866491-f68b-4adc-9d4e-3d5241788660 g.chr17:56060673C>G ENST00000584396.1 - 2 176 c.88G>C c.(88-90)Gat>Cat p.D30H VEZF1_ENST00000581208.1_Missense_Mutation_p.D39H Q14119 VEZF1_HUMAN vascular endothelial zinc finger 1 39 cellular defense response|regulation of transcription from RNA polymerase II promoter|transcription from RNA polymerase II promoter nucleus DNA binding|zinc ion binding breast(1)|endometrium(1)|kidney(2)|lung(5)|ovary(1) 10 GGTTTCTGATCAGGGGGCTCC 0.473000 77 87 0 0 1 0 0 UNC5B 219699 broad.mit.edu 37 10 73046568 73046568 + Missense_Mutation SNP C C G TCGA-HT-7477-01B-11D-A289-08 TCGA-HT-7477-10A-01D-A289-08 Untested Somatic Phase_I WXS none Illumina GAIIx e4c150f7-c19e-4f15-b67f-67af9eb7f46c 60866491-f68b-4adc-9d4e-3d5241788660 g.chr10:73046568C>G ENST00000335350.6 + 5 1091 c.675C>G c.(673-675)tgC>tgG p.C225W UNC5B_ENST00000373192.4_Missense_Mutation_p.C225W NM_170744.4 NP_734465.2 Q8IZJ1 UNC5B_HUMAN unc-5 homolog B (C. elegans) 225 Ig-like C2-type. apoptosis|axon guidance|regulation of apoptosis integral to membrane breast(2)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(8)|lung(17)|ovary(4)|prostate(4)|skin(4) 49 ACTATACCTGCGTGGCCAAGA 0.627000 7 320 0 0 1 0 0 SLC26A2 1836 broad.mit.edu 37 5 149357883 149357883 + Missense_Mutation SNP G G A TCGA-HT-7477-01B-11D-A289-08 TCGA-HT-7477-10A-01D-A289-08 Untested Somatic Phase_I WXS none Illumina GAIIx e4c150f7-c19e-4f15-b67f-67af9eb7f46c 60866491-f68b-4adc-9d4e-3d5241788660 g.chr5:149357883G>A ENST00000286298.4 + 2 936 c.668G>A c.(667-669)aGc>aAc p.S223N NM_000112.3 NP_000103.2 P50443 S26A2_HUMAN solute carrier family 26 (anion exchanger), member 2 223 integral to plasma membrane|membrane fraction secondary active sulfate transmembrane transporter activity NS(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(9)|lung(1)|prostate(2)|stomach(1) 18 KIRC - Kidney renal clear cell carcinoma(527;0.000962)|Kidney(363;0.00147) ATGGTTGGCAGCACTGTAACC 0.353000 44 37 0 0 1 0 0 CIB1 10519 broad.mit.edu 37 15 90775542 90775542 + Missense_Mutation SNP C C A TCGA-HT-7477-01B-11D-A289-08 TCGA-HT-7477-10A-01D-A289-08 Untested Somatic Phase_I WXS none Illumina GAIIx e4c150f7-c19e-4f15-b67f-67af9eb7f46c 60866491-f68b-4adc-9d4e-3d5241788660 g.chr15:90775542C>A ENST00000328649.6 - 3 265 c.104G>T c.(103-105)tGt>tTt p.C35F NM_006384.3 NP_006375.2 Q99828 CIB1_HUMAN calcium and integrin binding 1 (calmyrin) 35 apoptosis|cell adhesion|double-strand break repair apical plasma membrane|endoplasmic reticulum|filopodium|nucleoplasm calcium ion binding|protein binding lung(1)|prostate(1) 2 Melanoma(11;0.00551)|Lung NSC(78;0.0141)|all_lung(78;0.0303) BRCA - Breast invasive adenocarcinoma(143;0.00269)|KIRC - Kidney renal clear cell carcinoma(17;0.0286)|Kidney(142;0.0514)|STAD - Stomach adenocarcinoma(125;0.217) AAGCAGCTCACAAAACCGCCT 0.587000 9 24 1.2476e-16 1.32013e-16 1 1 0 HS6ST1 9394 broad.mit.edu 37 2 129026421 129026421 + Missense_Mutation SNP A A G TCGA-HT-7477-01B-11D-A289-08 TCGA-HT-7477-10A-01D-A289-08 Untested Somatic Phase_I WXS none Illumina GAIIx e4c150f7-c19e-4f15-b67f-67af9eb7f46c 60866491-f68b-4adc-9d4e-3d5241788660 g.chr2:129026421A>G ENST00000259241.6 - 2 564 c.551T>C c.(550-552)cTa>cCa p.L184P NM_004807.2 NP_004798.3 O60243 H6ST1_HUMAN heparan sulfate 6-O-sulfotransferase 1 184 heparan sulfate proteoglycan biosynthetic process, enzymatic modification integral to plasma membrane sulfotransferase activity endometrium(3)|liver(1)|lung(7)|pancreas(1)|prostate(2)|skin(1) 15 Colorectal(110;0.1) BRCA - Breast invasive adenocarcinoma(221;0.117) GGGGTCTCGTAGCAGGGTGAT 0.622000 8 57 0 0 1 0 0 CDH9 1007 broad.mit.edu 37 5 26881636 26881636 + Missense_Mutation SNP T T C TCGA-HT-7477-01B-11D-A289-08 TCGA-HT-7477-10A-01D-A289-08 Untested Somatic Phase_I WXS none Illumina GAIIx e4c150f7-c19e-4f15-b67f-67af9eb7f46c 60866491-f68b-4adc-9d4e-3d5241788660 g.chr5:26881636T>C ENST00000231021.4 - 12 2151 c.1979A>G c.(1978-1980)aAc>aGc p.N660S NM_016279.3 NP_057363.3 Q9ULB4 CADH9_HUMAN cadherin 9, type 2 (T1-cadherin) 660 adherens junction organization|cell junction assembly|homophilic cell adhesion integral to membrane|plasma membrane calcium ion binding breast(6)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(25)|lung(80)|ovary(5)|prostate(4)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1) 137 GCCTTCATCGTTGTAGGTCAC 0.428000 36 120 0 0 1 0 0 GPR45 11250 broad.mit.edu 37 2 105858985 105858985 + Missense_Mutation SNP A A G TCGA-HT-7477-01B-11D-A289-08 TCGA-HT-7477-10A-01D-A289-08 Untested Somatic Phase_I WXS none Illumina GAIIx e4c150f7-c19e-4f15-b67f-67af9eb7f46c 60866491-f68b-4adc-9d4e-3d5241788660 g.chr2:105858985A>G ENST00000258456.1 + 1 786 c.670A>G c.(670-672)Aag>Gag p.K224E NM_007227.3 NP_009158.3 Q9Y5Y3 GPR45_HUMAN G protein-coupled receptor 45 224 integral to membrane|plasma membrane G-protein coupled receptor activity|protein binding breast(1)|central_nervous_system(1)|endometrium(1)|kidney(3)|large_intestine(8)|lung(10)|ovary(1)|prostate(1)|stomach(1)|urinary_tract(1) 28 CACGGTCCGCAAGAACGCCGT 0.672000 23 62 0 0 1 0 0 TULP4 56995 broad.mit.edu 37 6 158923248 158923248 + Silent SNP G G C TCGA-HT-7477-01B-11D-A289-08 TCGA-HT-7477-10A-01D-A289-08 Untested Somatic Phase_I WXS none Illumina GAIIx e4c150f7-c19e-4f15-b67f-67af9eb7f46c 60866491-f68b-4adc-9d4e-3d5241788660 g.chr6:158923248G>C ENST00000367097.3 + 13 3910 c.2553G>C c.(2551-2553)ccG>ccC p.P851P TULP4_ENST00000367094.2_Intron NM_020245.4 NP_064630.2 Q9NRJ4 TULP4_HUMAN tubby like protein 4 851 intracellular signal transduction|response to nutrient cytoplasm protein binding|sequence-specific DNA binding transcription factor activity endometrium(7)|kidney(2)|large_intestine(15)|lung(17)|ovary(1)|pancreas(1)|prostate(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 49 Breast(66;0.000781)|Ovarian(120;0.0308)|Lung SC(201;0.164)|Prostate(117;0.171) OV - Ovarian serous cystadenocarcinoma(65;1.64e-18)|BRCA - Breast invasive adenocarcinoma(81;2.67e-05) CAGCACCCCCGCCCCCTCTGC 0.657000 4 9 0 0 1 0 0 SEMA3B 7869 broad.mit.edu 37 3 50311108 50311108 + RNA SNP A A G TCGA-HT-7477-01B-11D-A289-08 TCGA-HT-7477-10A-01D-A289-08 Untested Somatic Phase_I WXS none Illumina GAIIx e4c150f7-c19e-4f15-b67f-67af9eb7f46c 60866491-f68b-4adc-9d4e-3d5241788660 g.chr3:50311108A>G ENST00000418948.1 + 0 1156 Q13214 SEM3B_HUMAN sema domain, immunoglobulin domain (Ig), short basic domain, secreted, (semaphorin) 3B axon guidance|cell-cell signaling endoplasmic reticulum|extracellular region|membrane receptor activity central_nervous_system(2)|kidney(1)|lung(2)|skin(1) 6 BRCA - Breast invasive adenocarcinoma(193;0.000272)|KIRC - Kidney renal clear cell carcinoma(197;0.00544)|Kidney(197;0.00605) GGGGTTGGGGAGGGGGGCAGC 0.701000 OREG0015583 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 11 56 0 0 1 0 0 IDH1 3417 broad.mit.edu 37 2 209113112 209113112 + Missense_Mutation SNP C C T rs121913500 TCGA-HT-7477-01B-11D-A289-08 TCGA-HT-7477-10A-01D-A289-08 Untested Somatic Phase_I WXS none Illumina GAIIx e4c150f7-c19e-4f15-b67f-67af9eb7f46c 60866491-f68b-4adc-9d4e-3d5241788660 g.chr2:209113112C>T ENST00000415913.1 - 4 776 c.395G>A c.(394-396)cGt>cAt p.R132H IDH1_ENST00000345146.2_Missense_Mutation_p.R132H|IDH1_ENST00000446179.1_Missense_Mutation_p.R132H O75874 IDHC_HUMAN isocitrate dehydrogenase 1 (NADP+), soluble 132 R -> C (in colorectal cancer and glioma samples; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha- ketoglutarate but instead alpha- ketoglutarate is converted to R(-)-2- hydroxyglutarate).|R -> G (in a glioma sample; glioblastoma multiforme; somatic mutation).|R -> H (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate).|R -> L (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate).|R -> S (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate). 2-oxoglutarate metabolic process|cellular lipid metabolic process|glyoxylate cycle|isocitrate metabolic process|NADPH regeneration|tricarboxylic acid cycle cytosol|peroxisomal matrix isocitrate dehydrogenase (NADP+) activity|magnesium ion binding|NAD binding|protein homodimerization activity p.R132H(2774)|p.R132L(59)|p.R132V(1)|p.G131_R132>VL(1) NS(1)|autonomic_ganglia(2)|biliary_tract(24)|bone(237)|central_nervous_system(3764)|endometrium(3)|haematopoietic_and_lymphoid_tissue(794)|kidney(2)|large_intestine(7)|lung(7)|prostate(6)|skin(5)|soft_tissue(12)|thyroid(22)|urinary_tract(1) 4887 Epithelial(149;0.0322)|LUSC - Lung squamous cell carcinoma(261;0.0711)|Lung(261;0.136) ATAAGCATGACGACCTATGAT 0.393000 Mis gliobastoma 25 22 0 0 1 0 0 FPGS 2356 broad.mit.edu 37 9 130569293 130569293 + Missense_Mutation SNP A A G TCGA-HT-7477-01B-11D-A289-08 TCGA-HT-7477-10A-01D-A289-08 Untested Somatic Phase_I WXS none Illumina GAIIx e4c150f7-c19e-4f15-b67f-67af9eb7f46c 60866491-f68b-4adc-9d4e-3d5241788660 g.chr9:130569293A>G ENST00000373245.1 + 5 478 c.428A>G c.(427-429)aAt>aGt p.N143S FPGS_ENST00000393706.2_Missense_Mutation_p.N143S|FPGS_ENST00000460181.1_3'UTR|FPGS_ENST00000373225.3_Missense_Mutation_p.N93S|FPGS_ENST00000373247.2_Missense_Mutation_p.N143S Q05932 FOLC_HUMAN folylpolyglutamate synthase 143 folic acid metabolic process|nucleobase, nucleoside, nucleotide and nucleic acid metabolic process|one-carbon metabolic process cytosol|mitochondrial matrix ATP binding|tetrahydrofolylpolyglutamate synthase activity endometrium(2)|kidney(1)|lung(3)|ovary(1) 7 L-Glutamic Acid(DB00142) ATCCGCATCAATGGGCAGCCC 0.657000 39 136 0 0 1 0 0 OR51D1 390038 broad.mit.edu 37 11 4661741 4661741 + Missense_Mutation SNP C C A TCGA-HT-7477-01B-11D-A289-08 TCGA-HT-7477-10A-01D-A289-08 Untested Somatic Phase_I WXS none Illumina GAIIx e4c150f7-c19e-4f15-b67f-67af9eb7f46c 60866491-f68b-4adc-9d4e-3d5241788660 g.chr11:4661741C>A ENST00000357605.2 + 1 797 c.721C>A c.(721-723)Ctg>Atg p.L241M NM_001004751.2 NP_001004751.1 Q8NGF3 O51D1_HUMAN olfactory receptor, family 51, subfamily D, member 1 241 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity autonomic_ganglia(1)|breast(2)|central_nervous_system(1)|cervix(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|liver(2)|lung(14)|prostate(1)|skin(2)|urinary_tract(1) 27 Medulloblastoma(188;0.0075)|Breast(177;0.0461)|all_neural(188;0.0577) Epithelial(150;2.74e-13)|BRCA - Breast invasive adenocarcinoma(625;0.00435)|GBM - Glioblastoma multiforme(2;0.0841)|LUSC - Lung squamous cell carcinoma(625;0.19) TGTTTTGGAGCTGTCCTCTCG 0.512000 17 37 2.35188e-11 2.40473e-11 1 1 0 TMEM92 162461 broad.mit.edu 37 17 48356660 48356660 + Silent SNP G G A TCGA-HT-7477-01B-11D-A289-08 TCGA-HT-7477-10A-01D-A289-08 Untested Somatic Phase_I WXS none Illumina GAIIx e4c150f7-c19e-4f15-b67f-67af9eb7f46c 60866491-f68b-4adc-9d4e-3d5241788660 g.chr17:48356660G>A ENST00000300433.3 + 6 581 c.471G>A c.(469-471)ccG>ccA p.P157P TMEM92_ENST00000507382.1_Silent_p.P157P NM_001168215.1 NP_001161687.1 Q6UXU6 TMM92_HUMAN transmembrane protein 92 157 integral to membrane NS(1)|endometrium(2)|kidney(1)|large_intestine(1)|liver(1)|lung(1) 7 TTGACAACCCGGCCTTCTGAG 0.597000 4 177 0 0 1 0 0 MYO15A 51168 broad.mit.edu 37 17 18022907 18022907 + Missense_Mutation SNP G G A TCGA-HT-7477-01B-11D-A289-08 TCGA-HT-7477-10A-01D-A289-08 Untested Somatic Phase_I WXS none Illumina GAIIx e4c150f7-c19e-4f15-b67f-67af9eb7f46c 60866491-f68b-4adc-9d4e-3d5241788660 g.chr17:18022907G>A ENST00000205890.5 + 2 1131 c.793G>A c.(793-795)Ggc>Agc p.G265S NM_016239.3 NP_057323.3 Q9UKN7 MYO15_HUMAN myosin XVA 265 Myosin head-like. sensory perception of sound cytoplasm|myosin complex|stereocilium actin binding|ATP binding|calmodulin binding|motor activity breast(5)|central_nervous_system(2)|endometrium(17)|kidney(3)|large_intestine(16)|lung(27)|ovary(3)|pancreas(1)|prostate(6)|skin(13)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(2) 99 all_neural(463;0.228) GGCGGGCCTCGGCCCCTACAG 0.652000 41 64 0 0 1 0 0 EGFLAM 133584 broad.mit.edu 37 5 38338820 38338820 + Silent SNP C C T rs142461042 TCGA-HT-7477-01B-11D-A289-08 TCGA-HT-7477-10A-01D-A289-08 Untested Somatic Phase_I WXS none Illumina GAIIx e4c150f7-c19e-4f15-b67f-67af9eb7f46c 60866491-f68b-4adc-9d4e-3d5241788660 g.chr5:38338820C>T ENST00000322350.5 + 3 574 c.228C>T c.(226-228)ggC>ggT p.G76G EGFLAM_ENST00000354891.3_Silent_p.G76G NM_152403.3 NP_689616.2 Q63HQ2 EGFLA_HUMAN EGF-like, fibronectin type III and laminin G domains 76 Fibronectin type-III 1. cell junction|proteinaceous extracellular matrix|synapse NS(1)|breast(3)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|lung(43)|ovary(1)|pancreas(3)|prostate(1)|skin(8)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 85 all_lung(31;0.000385) CTGAGGTTGGCGCAGATAAAT 0.532000 24 25 0 0 1 0 0 C2orf68 388969 broad.mit.edu 37 2 85839085 85839085 + Missense_Mutation SNP C C G TCGA-HT-7477-01B-11D-A289-08 TCGA-HT-7477-10A-01D-A289-08 Untested Somatic Phase_I WXS none Illumina GAIIx e4c150f7-c19e-4f15-b67f-67af9eb7f46c 60866491-f68b-4adc-9d4e-3d5241788660 g.chr2:85839085C>G ENST00000306336.5 - 1 67 c.23G>C c.(22-24)cGg>cCg p.R8P C2orf68_ENST00000409734.3_Missense_Mutation_p.R8P|USP39_ENST00000459775.1_Intron NM_001013649.3 NP_001013671.2 Q2NKX9 CB068_HUMAN chromosome 2 open reading frame 68 8 breast(1)|central_nervous_system(1)|endometrium(1) 3 GTGCCCCGGCCGGGGATGCGG 0.731000 6 18 0 0 1 0 0 ADAM2 2515 broad.mit.edu 37 8 39624672 39624672 + Splice_Site SNP T T C TCGA-HT-7477-01B-11D-A289-08 TCGA-HT-7477-10A-01D-A289-08 Untested Somatic Phase_I WXS none Illumina GAIIx e4c150f7-c19e-4f15-b67f-67af9eb7f46c 60866491-f68b-4adc-9d4e-3d5241788660 g.chr8:39624672T>C ENST00000265708.4 - 13 1414 c.1311_splice c.e13+1 p.L437_splice ADAM2_ENST00000379853.2_Splice_Site_p.L311_splice|ADAM2_ENST00000347580.4_Splice_Site_p.L418_splice|ADAM2_ENST00000521880.1_Splice_Site_p.L437_splice NM_001464.3 NP_001455.3 Q99965 ADAM2_HUMAN ADAM metallopeptidase domain 2 437 Disintegrin. cell adhesion|fusion of sperm to egg plasma membrane|proteolysis integral to plasma membrane integrin binding|metalloendopeptidase activity|zinc ion binding haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(11)|lung(29)|ovary(3)|prostate(1)|skin(5)|urinary_tract(1) 53 all_cancers(7;2.38e-28)|all_epithelial(6;8.85e-21)|all_lung(54;1.24e-07)|Lung NSC(58;1.94e-07)|Hepatocellular(245;0.00745)|Breast(189;0.00908)|Renal(179;0.0183)|Colorectal(162;0.246) LUSC - Lung squamous cell carcinoma(45;0.000149) READ - Rectum adenocarcinoma(644;0.0689)|Kidney(114;0.162) AAGCTCTTACTAGACAGTTTT 0.343000 70 81 0 0 1 0 0 DNAH7 56171 broad.mit.edu 37 2 196749379 196749379 + Missense_Mutation SNP G G A TCGA-HT-7477-01B-11D-A289-08 TCGA-HT-7477-10A-01D-A289-08 Untested Somatic Phase_I WXS none Illumina GAIIx e4c150f7-c19e-4f15-b67f-67af9eb7f46c 60866491-f68b-4adc-9d4e-3d5241788660 g.chr2:196749379G>A ENST00000312428.6 - 35 5793 c.5693C>T c.(5692-5694)aCa>aTa p.T1898I NM_018897.2 NP_061720.2 Q8WXX0 DYH7_HUMAN dynein, axonemal, heavy chain 7 1898 ciliary or flagellar motility|microtubule-based movement axonemal dynein complex|cilium axoneme|cytoplasm|microtubule ATP binding|microtubule motor activity NS(4)|breast(2)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(15)|large_intestine(28)|liver(3)|lung(100)|ovary(4)|prostate(5)|skin(26)|upper_aerodigestive_tract(2)|urinary_tract(3) 205 CTTTGAGGATGTTTGCTCAGT 0.358000 13 35 0 0 1 0 0 ANKRD30BP2 0 broad.mit.edu 37 21 14414902 14414902 + RNA SNP G G A rs2821609 by1000genomes TCGA-HT-7477-01B-11D-A289-08 TCGA-HT-7477-10A-01D-A289-08 Untested Somatic Phase_I WXS none Illumina GAIIx e4c150f7-c19e-4f15-b67f-67af9eb7f46c 60866491-f68b-4adc-9d4e-3d5241788660 g.chr21:14414902G>A ENST00000507941.1 + 0 95 CCAGCTTGACGTCCTTGATGG 0.443000 4 26 0 0 1 0 0 FRYL 285527 broad.mit.edu 37 4 48536663 48536663 + Silent SNP G G A TCGA-HT-7477-01B-11D-A289-08 TCGA-HT-7477-10A-01D-A289-08 Untested Somatic Phase_I WXS none Illumina GAIIx e4c150f7-c19e-4f15-b67f-67af9eb7f46c 60866491-f68b-4adc-9d4e-3d5241788660 g.chr4:48536663G>A ENST00000537810.1 - 49 7208 c.6604C>T c.(6604-6606)Cta>Tta p.L2202L FRYL_ENST00000507873.2_5'UTR|FRYL_ENST00000264319.7_5'UTR|FRYL_ENST00000358350.4_Silent_p.L2202L|FRYL_ENST00000503238.1_Silent_p.L2202L O94915 FRYL_HUMAN FRY-like 2202 regulation of transcription, DNA-dependent|transcription, DNA-dependent protein binding breast(2)|central_nervous_system(2)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(21)|lung(38)|ovary(1)|pancreas(1)|prostate(3)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1) 91 ATAATCTGTAGTAATGATTGC 0.313000 34 15 0 0 1 0 0 RYR2 6262 broad.mit.edu 37 1 237804274 237804274 + Missense_Mutation SNP T T C TCGA-HT-7477-01B-11D-A289-08 TCGA-HT-7477-10A-01D-A289-08 Untested Somatic Phase_I WXS none Illumina GAIIx e4c150f7-c19e-4f15-b67f-67af9eb7f46c 60866491-f68b-4adc-9d4e-3d5241788660 g.chr1:237804274T>C ENST00000366574.2 + 47 7510 c.7193T>C c.(7192-7194)cTc>cCc p.L2398P RYR2_ENST00000542537.1_Missense_Mutation_p.L2382P|RYR2_ENST00000360064.6_Missense_Mutation_p.L2396P NM_001035.2 NP_001026.2 Q92736 RYR2_HUMAN ryanodine receptor 2 (cardiac) 2398 4 X approximate repeats. cardiac muscle contraction|detection of calcium ion|induction of apoptosis by ionic changes|regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion|release of sequestered calcium ion into cytosol by sarcoplasmic reticulum|response to caffeine|response to hypoxia|response to redox state calcium channel complex|cytosol|plasma membrane|plasma membrane enriched fraction|sarcoplasmic reticulum membrane calcium ion binding|calmodulin binding|identical protein binding|protein kinase A catalytic subunit binding|protein kinase A regulatory subunit binding|receptor activity|ryanodine-sensitive calcium-release channel activity|suramin binding NS(4)|breast(8)|central_nervous_system(11)|cervix(2)|endometrium(39)|haematopoietic_and_lymphoid_tissue(5)|kidney(17)|large_intestine(83)|liver(4)|lung(353)|ovary(18)|pancreas(5)|prostate(12)|skin(8)|stomach(1)|upper_aerodigestive_tract(12)|urinary_tract(4) 586 Ovarian(103;0.103) all_cancers(173;0.000368)|Melanoma(53;0.0179)|all_epithelial(177;0.0225) OV - Ovarian serous cystadenocarcinoma(106;0.00606) TTGATTGACCTCTTGGGACGC 0.453000 16 13 0 0 1 0 0 IGKV6D-21 0 broad.mit.edu 37 2 90060991 90060991 + RNA SNP T T C TCGA-HT-7477-01B-11D-A289-08 TCGA-HT-7477-10A-01D-A289-08 Untested Somatic Phase_I WXS none Illumina GAIIx e4c150f7-c19e-4f15-b67f-67af9eb7f46c 60866491-f68b-4adc-9d4e-3d5241788660 g.chr2:90060991T>C ENST00000436451.2 + 0 405 AGTAGTAGTTTACCTCACACT 0.468000 49 86 0 0 1 0 0 FCRL5 83416 broad.mit.edu 37 1 157514077 157514077 + Missense_Mutation SNP G G T TCGA-HT-7477-01B-11D-A289-08 TCGA-HT-7477-10A-01D-A289-08 Untested Somatic Phase_I WXS none Illumina GAIIx e4c150f7-c19e-4f15-b67f-67af9eb7f46c 60866491-f68b-4adc-9d4e-3d5241788660 g.chr1:157514077G>T ENST00000361835.3 - 5 976 c.819C>A c.(817-819)agC>agA p.S273R FCRL5_ENST00000356953.4_Missense_Mutation_p.S273R|FCRL5_ENST00000368191.3_Missense_Mutation_p.S188R|FCRL5_ENST00000368190.3_Missense_Mutation_p.S273R|FCRL5_ENST00000368189.3_Missense_Mutation_p.S273R NM_001195388.1|NM_031281.2 NP_001182317.1|NP_112571.2 Q96RD9 FCRL5_HUMAN Fc receptor-like 5 273 integral to membrane|plasma membrane receptor activity breast(5)|central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(10)|lung(45)|ovary(5)|prostate(2)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1) 85 all_hematologic(112;0.0378)|Hepatocellular(266;0.178) Prostate(1639;0.231) AGGATCTCGGGCTGTCAGATA 0.512000 126 145 1.13993e-56 1.23492e-56 1 1 0 TUBGCP3 10426 broad.mit.edu 37 13 113181323 113181323 + Silent SNP A A C TCGA-HT-7477-01B-11D-A289-08 TCGA-HT-7477-10A-01D-A289-08 Untested Somatic Phase_I WXS none Illumina GAIIx e4c150f7-c19e-4f15-b67f-67af9eb7f46c 60866491-f68b-4adc-9d4e-3d5241788660 g.chr13:113181323A>C ENST00000261965.3 - 13 1674 c.1488T>G c.(1486-1488)gtT>gtG p.V496V TUBGCP3_ENST00000375669.3_Silent_p.V496V|TUBGCP3_ENST00000462580.1_5'UTR NM_006322.4 NP_006313.1 Q96CW5 GCP3_HUMAN tubulin, gamma complex associated protein 3 496 G2/M transition of mitotic cell cycle|microtubule nucleation|single fertilization centriole|cytosol|polar microtubule gamma-tubulin binding|structural constituent of cytoskeleton central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(7)|lung(9)|prostate(3)|urinary_tract(1) 25 all_lung(23;0.000374)|Lung NSC(43;0.0107)|Lung SC(71;0.0753)|all_neural(89;0.0804)|Hepatocellular(20;0.0877)|Medulloblastoma(90;0.163) GATCATGACAAACTTGGTGCA 0.398000 9 38 0 0 1 0 0 PFKL 5211 broad.mit.edu 37 21 45732984 45732984 + Missense_Mutation SNP G G A TCGA-HT-7477-01B-11D-A289-08 TCGA-HT-7477-10A-01D-A289-08 Untested Somatic Phase_I WXS none Illumina GAIIx e4c150f7-c19e-4f15-b67f-67af9eb7f46c 60866491-f68b-4adc-9d4e-3d5241788660 g.chr21:45732984G>A ENST00000403390.1 + 6 692 c.692G>A c.(691-693)cGc>cAc p.R231H PFKL_ENST00000496824.1_3'UTR|PFKL_ENST00000349048.4_Missense_Mutation_p.R184H P17858 K6PL_HUMAN phosphofructokinase, liver 184 fructose 6-phosphate metabolic process|glycolysis|protein oligomerization 6-phosphofructokinase complex 6-phosphofructokinase activity|ATP binding|fructose-6-phosphate binding|identical protein binding|kinase binding|metal ion binding p.R231L(1) cervix(1)|endometrium(1)|kidney(2)|large_intestine(1)|lung(10)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2) 23 Colorectal(79;0.0811) GCCCTCCACCGCATCATGGAG 0.667000 4 172 0 0 1 0 0 C17orf80 55028 broad.mit.edu 37 17 71243390 71243390 + Silent SNP C C T TCGA-HT-7477-01B-11D-A289-08 TCGA-HT-7477-10A-01D-A289-08 Untested Somatic Phase_I WXS none Illumina GAIIx e4c150f7-c19e-4f15-b67f-67af9eb7f46c 60866491-f68b-4adc-9d4e-3d5241788660 g.chr17:71243390C>T ENST00000359042.2 + 6 1934 c.1740C>T c.(1738-1740)tgC>tgT p.C580C C17orf80_ENST00000535032.2_Silent_p.C580C|C17orf80_ENST00000577615.1_Silent_p.C544C|C17orf80_ENST00000582793.1_Silent_p.C49C|C17orf80_ENST00000268942.8_Silent_p.C544C NM_017941.4 NP_060411.2 Q9BSJ5 CQ080_HUMAN chromosome 17 open reading frame 80 580 integral to membrane kidney(1)|large_intestine(5)|lung(2)|skin(2)|stomach(2)|urinary_tract(2) 14 LUSC - Lung squamous cell carcinoma(166;0.197) aaaaattgtgccgacccctgC 0.463000 4 105 0 0 1 0 0 CD97 976 broad.mit.edu 37 19 14517251 14517251 + Missense_Mutation SNP G G A TCGA-HT-7477-01B-11D-A289-08 TCGA-HT-7477-10A-01D-A289-08 Untested Somatic Phase_I WXS none Illumina GAIIx e4c150f7-c19e-4f15-b67f-67af9eb7f46c 60866491-f68b-4adc-9d4e-3d5241788660 g.chr19:14517251G>A ENST00000242786.5 + 15 2010 c.1930G>A c.(1930-1932)Gtg>Atg p.V644M CD97_ENST00000358600.3_Missense_Mutation_p.V551M|CD97_ENST00000357355.3_Missense_Mutation_p.V595M|CTC-548K16.5_ENST00000590626.1_RNA NM_078481.3 NP_510966.1 P48960 CD97_HUMAN CD97 molecule 644 cell adhesion|cell-cell signaling|cellular component movement|immune response|inflammatory response|neuropeptide signaling pathway extracellular space|integral to plasma membrane calcium ion binding|G-protein coupled receptor activity|protein binding breast(2)|endometrium(3)|kidney(1)|large_intestine(6)|liver(1)|lung(9)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 30 TGTGGTGCGCGTGTTCCAAGG 0.652000 OREG0025312 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 3 14 0 0 1 0 0 SPATA2 9825 broad.mit.edu 37 20 48523042 48523042 + Missense_Mutation SNP G G A TCGA-HT-7477-01B-11D-A289-08 TCGA-HT-7477-10A-01D-A289-08 Untested Somatic Phase_I WXS none Illumina GAIIx e4c150f7-c19e-4f15-b67f-67af9eb7f46c 60866491-f68b-4adc-9d4e-3d5241788660 g.chr20:48523042G>A ENST00000422556.1 - 3 1026 c.677C>T c.(676-678)tCa>tTa p.S226L SPATA2_ENST00000289431.5_Missense_Mutation_p.S226L|SPATA2_ENST00000543716.1_Missense_Mutation_p.S89L NM_001135773.1 NP_001129245.1 Q9UM82 SPAT2_HUMAN spermatogenesis associated 2 226 cell differentiation|multicellular organismal development|spermatogenesis cytoplasm|nucleus central_nervous_system(1)|endometrium(2)|large_intestine(3)|lung(11)|ovary(1)|prostate(1)|skin(1) 20 Hepatocellular(150;0.133) BRCA - Breast invasive adenocarcinoma(9;4.03e-06) TGCCACTCGTGACATGGAGGC 0.672000 18 49 0 0 1 0 0 P2RY12 0 broad.mit.edu 37 3 151056104 151056104 + Missense_Mutation SNP A A T TCGA-HT-7477-01B-11D-A289-08 TCGA-HT-7477-10A-01D-A289-08 Untested Somatic Phase_I WXS none Illumina GAIIx e4c150f7-c19e-4f15-b67f-67af9eb7f46c 60866491-f68b-4adc-9d4e-3d5241788660 g.chr3:151056104A>T ENST00000302632.3 - 3 829 c.530T>A c.(529-531)tTc>tAc p.F177Y MED12L_ENST00000474524.1_Intron|MED12L_ENST00000491549.1_Intron|MED12L_ENST00000273432.4_Intron NM_022788.4|NM_176876.2 NP_073625.1|NP_795345.1 Q9H244 P2Y12_HUMAN purinergic receptor P2Y, G-protein coupled, 12 177 platelet activation integral to membrane|plasma membrane guanyl-nucleotide exchange factor activity breast(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(5)|ovary(1)|prostate(1)|skin(1) 17 LUSC - Lung squamous cell carcinoma(72;0.0394)|Lung(72;0.0517) Clopidogrel(DB00758)|Epoprostenol(DB01240)|Ticlopidine(DB00208)|Treprostinil(DB00374) TGATTTAAGGAAAGAGCATTT 0.368000 18 49 0 0 1 0 0 PSD3 23362 broad.mit.edu 37 8 18729531 18729531 + Silent SNP T T A TCGA-HT-7477-01B-11D-A289-08 TCGA-HT-7477-10A-01D-A289-08 Untested Somatic Phase_I WXS none Illumina GAIIx e4c150f7-c19e-4f15-b67f-67af9eb7f46c 60866491-f68b-4adc-9d4e-3d5241788660 g.chr8:18729531T>A ENST00000440756.2 - 3 945 c.843A>T c.(841-843)ccA>ccT p.P281P PSD3_ENST00000523619.1_Silent_p.P216P|PSD3_ENST00000327040.8_Silent_p.P281P Q9NYI0 PSD3_HUMAN pleckstrin and Sec7 domain containing 3 281 regulation of ARF protein signal transduction cell junction|cytoplasm|postsynaptic density|postsynaptic membrane ARF guanyl-nucleotide exchange factor activity endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|lung(8)|ovary(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 20 Colorectal(111;0.0281)|READ - Rectum adenocarcinoma(644;0.183) CACATCCCCCTGGGTGCTCTC 0.567000 24 110 0 0 1 0 0 DNAI2 64446 broad.mit.edu 37 17 72301394 72301394 + Missense_Mutation SNP G G A TCGA-HT-7477-01B-11D-A289-08 TCGA-HT-7477-10A-01D-A289-08 Untested Somatic Phase_I WXS none Illumina GAIIx e4c150f7-c19e-4f15-b67f-67af9eb7f46c 60866491-f68b-4adc-9d4e-3d5241788660 g.chr17:72301394G>A ENST00000579490.1 + 8 1330 c.1195G>A c.(1195-1197)Gtc>Atc p.V399I DNAI2_ENST00000311014.6_Missense_Mutation_p.V342I|DNAI2_ENST00000582036.1_Missense_Mutation_p.V342I|DNAI2_ENST00000307504.5_Missense_Mutation_p.V199I|DNAI2_ENST00000446837.2_Missense_Mutation_p.V342I Q9GZS0 DNAI2_HUMAN dynein, axonemal, intermediate chain 2 342 cilium assembly axonemal dynein complex|cilium axoneme|cytoplasm|microtubule microtubule motor activity breast(1)|central_nervous_system(1)|endometrium(4)|large_intestine(6)|liver(2)|lung(19)|ovary(3)|upper_aerodigestive_tract(1)|urinary_tract(2) 39 GCAGGGCATCGTCATCTCCTG 0.577000 Kartagener syndrome 10 102 0 0 1 0 0 TTK 7272 broad.mit.edu 37 6 80720598 80720598 + Missense_Mutation SNP G G A TCGA-HT-7477-01B-11D-A289-08 TCGA-HT-7477-10A-01D-A289-08 Untested Somatic Phase_I WXS none Illumina GAIIx e4c150f7-c19e-4f15-b67f-67af9eb7f46c 60866491-f68b-4adc-9d4e-3d5241788660 g.chr6:80720598G>A ENST00000509894.1 + 5 1366 c.537G>A c.(535-537)atG>atA p.M179I TTK_ENST00000230510.3_Missense_Mutation_p.M179I|TTK_ENST00000369798.2_Missense_Mutation_p.M179I P33981 TTK_HUMAN TTK protein kinase 179 mitotic cell cycle spindle assembly checkpoint|mitotic spindle organization|positive regulation of cell proliferation|positive regulation of pathway-restricted SMAD protein phosphorylation spindle ATP binding|identical protein binding|protein serine/threonine kinase activity|protein tyrosine kinase activity endometrium(4)|kidney(2)|large_intestine(12)|lung(22)|ovary(7)|pancreas(1)|prostate(1)|stomach(3)|urinary_tract(1) 53 all_cancers(76;0.00177)|Acute lymphoblastic leukemia(125;1.24e-05)|all_hematologic(105;0.00223)|all_epithelial(107;0.2) BRCA - Breast invasive adenocarcinoma(397;0.0321) CACTAGAAATGCTGGAAATTG 0.348000 20 42 0 0 1 0 0 PLAC9 219348 broad.mit.edu 37 10 81901857 81901857 + Silent SNP T T A TCGA-HT-7477-01B-11D-A289-08 TCGA-HT-7477-10A-01D-A289-08 Untested Somatic Phase_I WXS none Illumina GAIIx e4c150f7-c19e-4f15-b67f-67af9eb7f46c 60866491-f68b-4adc-9d4e-3d5241788660 g.chr10:81901857T>A ENST00000372263.3 + 2 126 c.84T>A c.(82-84)ccT>ccA p.P28P PLAC9_ENST00000372267.2_Silent_p.P28P|PLAC9_ENST00000372270.2_5'UTR NM_001012973.1 NP_001012991.1 Q5JTB6 PLAC9_HUMAN placenta-specific 9 28 extracellular region kidney(1)|ovary(1) 2 Prostate(51;0.0095)|all_epithelial(25;0.175) Colorectal(32;0.109) CCTTCAGCCCTCCGCGAGGAG 0.532000 8 51 0 0 1 0 0 PGK2 5232 broad.mit.edu 37 6 49754106 49754106 + Silent SNP G G A TCGA-HT-7477-01B-11D-A289-08 TCGA-HT-7477-10A-01D-A289-08 Untested Somatic Phase_I WXS none Illumina GAIIx e4c150f7-c19e-4f15-b67f-67af9eb7f46c 60866491-f68b-4adc-9d4e-3d5241788660 g.chr6:49754106G>A ENST00000304801.3 - 1 947 c.795C>T c.(793-795)atC>atT p.I265I NM_138733.4 NP_620061.2 P07205 PGK2_HUMAN phosphoglycerate kinase 2 265 glycolysis cytosol ATP binding|phosphoglycerate kinase activity autonomic_ganglia(1)|endometrium(3)|large_intestine(12)|lung(25)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1) 47 Lung NSC(77;0.0402) TATCTTTAACGATCTTGGCTC 0.418000 26 143 0 0 1 0 0 CSMD3 114788 broad.mit.edu 37 8 113347659 113347659 + Missense_Mutation SNP C C T TCGA-HT-7477-01B-11D-A289-08 TCGA-HT-7477-10A-01D-A289-08 Untested Somatic Phase_I WXS none Illumina GAIIx e4c150f7-c19e-4f15-b67f-67af9eb7f46c 60866491-f68b-4adc-9d4e-3d5241788660 g.chr8:113347659C>T ENST00000297405.5 - 45 7308 c.7064G>A c.(7063-7065)gGc>gAc p.G2355D CSMD3_ENST00000352409.3_Missense_Mutation_p.G2285D|CSMD3_ENST00000343508.3_Missense_Mutation_p.G2315D|CSMD3_ENST00000455883.2_Missense_Mutation_p.G2251D NM_198123.1 NP_937756.1 Q7Z407 CSMD3_HUMAN CUB and Sushi multiple domains 3 2355 CUB 13. integral to membrane|plasma membrane breast(7)|central_nervous_system(6)|endometrium(44)|haematopoietic_and_lymphoid_tissue(8)|kidney(36)|large_intestine(72)|liver(5)|lung(389)|ovary(24)|prostate(6)|skin(23)|upper_aerodigestive_tract(19)|urinary_tract(7) 646 AGCGGTATTGCCACTGAACTG 0.413000 HNSCC(6;0.00088)|TCGA Ovarian(7;0.080) 4 99 0 0 1 0 0 BBS12 166379 broad.mit.edu 37 4 123664898 123664898 + Silent SNP A A G TCGA-HT-7477-01B-11D-A289-08 TCGA-HT-7477-10A-01D-A289-08 Untested Somatic Phase_I WXS none Illumina GAIIx e4c150f7-c19e-4f15-b67f-67af9eb7f46c 60866491-f68b-4adc-9d4e-3d5241788660 g.chr4:123664898A>G ENST00000542236.1 + 3 2232 c.1851A>G c.(1849-1851)acA>acG p.T617T BBS12_ENST00000314218.3_Silent_p.T617T NM_001178007.1 NP_001171478.1 Q6ZW61 BBS12_HUMAN Bardet-Biedl syndrome 12 617 cellular protein metabolic process cilium ATP binding cervix(1)|endometrium(1)|kidney(2)|large_intestine(5)|lung(6)|ovary(2)|prostate(4) 21 AAGCCAGCACATACATTCAAC 0.363000 Bardet-Biedl syndrome 12 40 0 0 1 0 0 POTEE 445582 broad.mit.edu 37 2 131981311 131981311 + Missense_Mutation SNP G G A TCGA-HT-7477-01B-11D-A289-08 TCGA-HT-7477-10A-01D-A289-08 Untested Somatic Phase_I WXS none Illumina GAIIx e4c150f7-c19e-4f15-b67f-67af9eb7f46c 60866491-f68b-4adc-9d4e-3d5241788660 g.chr2:131981311G>A ENST00000358087.5 + 2 716 c.664G>A c.(664-666)Gag>Aag p.E222K POTEE_ENST00000356920.5_Intron|PLEKHB2_ENST00000404460.1_Intron|PLEKHB2_ENST00000303908.3_Intron Q6S8J3 POTEE_HUMAN POTE ankyrin domain family, member E 212 ATP binding ATATCAGCATGAGGTGGGTTT 0.358000 6 29 0 0 1 0 0 TRIP6 7205 broad.mit.edu 37 7 100465834 100465834 + Silent SNP G G A TCGA-HT-7477-01B-11D-A289-08 TCGA-HT-7477-10A-01D-A289-08 Untested Somatic Phase_I WXS none Illumina GAIIx e4c150f7-c19e-4f15-b67f-67af9eb7f46c 60866491-f68b-4adc-9d4e-3d5241788660 g.chr7:100465834G>A ENST00000200457.4 + 3 702 c.342G>A c.(340-342)gcG>gcA p.A114A NM_003302.2 NP_003293.2 Q15654 TRIP6_HUMAN thyroid hormone receptor interactor 6 114 focal adhesion assembly|positive regulation of cell migration|regulation of transcription, DNA-dependent|release of cytoplasmic sequestered NF-kappaB|transcription, DNA-dependent cytoplasm|cytoskeleton|focal adhesion|nucleus identical protein binding|interleukin-1 receptor binding|kinase binding|thyroid hormone receptor binding|zinc ion binding breast(1)|central_nervous_system(3)|endometrium(2)|large_intestine(2)|liver(1)|lung(5) 14 Lung NSC(181;0.041)|all_lung(186;0.0581) GGGGTCATGCGTCACGGCGAC 0.662000 19 40 0 0 1 0 0 CROCC 9696 broad.mit.edu 37 1 17264170 17264170 + Missense_Mutation SNP G G C rs141704732 TCGA-HT-7477-01B-11D-A289-08 TCGA-HT-7477-10A-01D-A289-08 Untested Somatic Phase_I WXS none Illumina GAIIx e4c150f7-c19e-4f15-b67f-67af9eb7f46c 60866491-f68b-4adc-9d4e-3d5241788660 g.chr1:17264170G>C ENST00000375541.5 + 10 1297 c.1228G>C c.(1228-1230)Gag>Cag p.E410Q CROCC_ENST00000467938.1_3'UTR NM_014675.3 NP_055490.3 Q5TZA2 CROCC_HUMAN ciliary rootlet coiled-coil, rootletin 410 cell cycle|cell projection organization|centrosome organization|protein localization actin cytoskeleton|centriole|ciliary rootlet|plasma membrane kinesin binding|structural molecule activity breast(3)|central_nervous_system(2)|cervix(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(12)|large_intestine(1)|lung(20)|ovary(3)|prostate(9)|skin(3)|urinary_tract(1) 62 Colorectal(325;3.46e-05)|Breast(348;0.000162)|Lung NSC(340;0.000174)|all_lung(284;0.000234)|Renal(390;0.000518)|Ovarian(437;0.00669)|Myeloproliferative disorder(586;0.0255) UCEC - Uterine corpus endometrioid carcinoma (279;0.00459)|BRCA - Breast invasive adenocarcinoma(304;7.63e-06)|COAD - Colon adenocarcinoma(227;1.07e-05)|Kidney(64;0.000163)|KIRC - Kidney renal clear cell carcinoma(64;0.00258)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.181) GAAGCGTCTTGAGAAGCAGAA 0.572000 5 30 0 0 1 0 0 DPYS 1807 broad.mit.edu 37 8 105459580 105459580 + Missense_Mutation SNP T T A TCGA-HT-7477-01B-11D-A289-08 TCGA-HT-7477-10A-01D-A289-08 Untested Somatic Phase_I WXS none Illumina GAIIx e4c150f7-c19e-4f15-b67f-67af9eb7f46c 60866491-f68b-4adc-9d4e-3d5241788660 g.chr8:105459580T>A ENST00000351513.2 - 3 707 c.575A>T c.(574-576)cAt>cTt p.H192L NM_001385.2 NP_001376.1 Q14117 DPYS_HUMAN dihydropyrimidinase 192 protein homotetramerization|pyrimidine nucleoside catabolic process|thymine catabolic process|uracil catabolic process cytosol dihydropyrimidinase activity|zinc ion binding NS(1)|breast(1)|endometrium(2)|kidney(2)|large_intestine(7)|lung(23)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 41 OV - Ovarian serous cystadenocarcinoma(57;1.61e-06)|STAD - Stomach adenocarcinoma(118;0.229) ATTTTCCGCATGGACCTGGGC 0.453000 6 103 0 0 1 0 0 ACTRT1 139741 broad.mit.edu 37 X 127185376 127185376 + Silent SNP G G T TCGA-HT-7477-01B-11D-A289-08 TCGA-HT-7477-10A-01D-A289-08 Untested Somatic Phase_I WXS none Illumina GAIIx e4c150f7-c19e-4f15-b67f-67af9eb7f46c 60866491-f68b-4adc-9d4e-3d5241788660 g.chrX:127185376G>T ENST00000371124.3 - 1 1006 c.810C>A c.(808-810)atC>atA p.I270I NM_138289.3 NP_612146.1 Q8TDG2 ACTT1_HUMAN actin-related protein T1 270 cytoplasm|cytoskeleton breast(1)|central_nervous_system(2)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(6)|lung(13)|ovary(2)|skin(3) 34 CTGGGCTGTGGATGCCCAGCT 0.512000 49 27 1.51926e-22 1.6265e-22 1 1 0 CARD11 84433 broad.mit.edu 37 7 2963945 2963945 + Missense_Mutation SNP G G A TCGA-HT-7477-01B-11D-A289-08 TCGA-HT-7477-10A-01D-A289-08 Untested Somatic Phase_I WXS none Illumina GAIIx e4c150f7-c19e-4f15-b67f-67af9eb7f46c 60866491-f68b-4adc-9d4e-3d5241788660 g.chr7:2963945G>A ENST00000396946.4 - 15 2265 c.1862C>T c.(1861-1863)tCc>tTc p.S621F NM_032415.4 NP_115791.3 Q9BXL7 CAR11_HUMAN caspase recruitment domain family, member 11 621 positive regulation of cytokine production|positive regulation of NF-kappaB transcription factor activity|regulation of apoptosis|T cell costimulation|T cell receptor signaling pathway cytosol|membrane raft|plasma membrane CARD domain binding|guanylate kinase activity NS(1)|breast(3)|central_nervous_system(1)|cervix(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(62)|kidney(11)|large_intestine(13)|lung(31)|ovary(4)|prostate(5)|skin(7)|upper_aerodigestive_tract(2) 150 Ovarian(82;0.0115) OV - Ovarian serous cystadenocarcinoma(56;8.44e-14) TTGGTGGGAGGAGGAGGAGGA 0.607000 Mis DLBCL 27 63 0 0 1 0 0 LL22NC03-80A10.6 0 broad.mit.edu 37 22 22664606 22664606 + RNA SNP A A G TCGA-HT-7477-01B-11D-A289-08 TCGA-HT-7477-10A-01D-A289-08 Untested Somatic Phase_I WXS none Illumina GAIIx e4c150f7-c19e-4f15-b67f-67af9eb7f46c 60866491-f68b-4adc-9d4e-3d5241788660 g.chr22:22664606A>G ENST00000426066.1 + 0 787 NR_027293.1 GTCTTCATGCAAACTTGGTAT 0.398000 3 10 0 0 1 0 0 SRP72 6731 broad.mit.edu 37 4 57340270 57340270 + Silent SNP C C T TCGA-HT-7477-01B-11D-A289-08 TCGA-HT-7477-10A-01D-A289-08 Untested Somatic Phase_I WXS none Illumina GAIIx e4c150f7-c19e-4f15-b67f-67af9eb7f46c 60866491-f68b-4adc-9d4e-3d5241788660 g.chr4:57340270C>T ENST00000342756.5 + 4 1126 c.405C>T c.(403-405)ctC>ctT p.L135L SRP72_ENST00000504757.1_Silent_p.L135L|SRP72_ENST00000510663.1_Silent_p.L135L NM_006947.3 NP_008878.3 O76094 SRP72_HUMAN signal recognition particle 72kDa 135 response to drug|SRP-dependent cotranslational protein targeting to membrane cytosol|nucleolus|plasma membrane|signal recognition particle, endoplasmic reticulum targeting 7S RNA binding|signal recognition particle binding breast(2)|endometrium(4)|kidney(1)|large_intestine(4)|liver(2)|lung(7)|ovary(2) 22 Glioma(25;0.08)|all_neural(26;0.101) ATAGAGATCTCGTCCGAAACT 0.378000 9 205 0 0 1 0 0 NUDT19 390916 broad.mit.edu 37 19 33183087 33183087 + Missense_Mutation SNP C C T TCGA-HT-7477-01B-11D-A289-08 TCGA-HT-7477-10A-01D-A289-08 Untested Somatic Phase_I WXS none Illumina GAIIx e4c150f7-c19e-4f15-b67f-67af9eb7f46c 60866491-f68b-4adc-9d4e-3d5241788660 g.chr19:33183087C>T ENST00000397061.3 + 1 221 c.221C>T c.(220-222)gCg>gTg p.A74V NM_001105570.1 NP_001099040.1 A8MXV4 NUD19_HUMAN nudix (nucleoside diphosphate linked moiety X)-type motif 19 74 Nudix hydrolase. mitochondrion|peroxisome hydrolase activity|metal ion binding endometrium(1)|large_intestine(1)|lung(4)|ovary(1)|upper_aerodigestive_tract(1) 8 Esophageal squamous(110;0.137) GACCGCTCGGCGGACTGGCTG 0.751000 9 30 0 0 1 0 0 CDC14B 8555 broad.mit.edu 37 9 99296298 99296298 + Missense_Mutation SNP G G A TCGA-HT-7477-01B-11D-A289-08 TCGA-HT-7477-10A-01D-A289-08 Untested Somatic Phase_I WXS none Illumina GAIIx e4c150f7-c19e-4f15-b67f-67af9eb7f46c 60866491-f68b-4adc-9d4e-3d5241788660 g.chr9:99296298G>A ENST00000375241.1 - 9 1308 c.857C>T c.(856-858)gCg>gTg p.A286V CDC14B_ENST00000265659.2_Missense_Mutation_p.A286V|CDC14B_ENST00000375242.3_Missense_Mutation_p.A249V|CDC14B_ENST00000463569.1_Missense_Mutation_p.A286V|CDC14B_ENST00000375240.3_Missense_Mutation_p.A286V|CDC14B_ENST00000375236.1_Missense_Mutation_p.A286V NM_003671.3|NM_033331.2 NP_003662.1|NP_201588.1 O60729 CC14B_HUMAN cell division cycle 14B 286 B. activation of anaphase-promoting complex activity|DNA repair|G2/M transition DNA damage checkpoint nucleolus|nucleoplasm protein binding|protein serine/threonine phosphatase activity|protein tyrosine phosphatase activity|protein tyrosine/serine/threonine phosphatase activity endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(5)|lung(5)|ovary(1)|prostate(1) 15 Acute lymphoblastic leukemia(62;0.0559) GCTGCCATCCGCAAAGAAAAG 0.413000 3 32 0 0 1 0 0 ATRX 546 broad.mit.edu 37 X 76940500 76940500 + Splice_Site SNP T T G TCGA-HT-7477-01B-11D-A289-08 TCGA-HT-7477-10A-01D-A289-08 Untested Somatic Phase_I WXS none Illumina GAIIx e4c150f7-c19e-4f15-b67f-67af9eb7f46c 60866491-f68b-4adc-9d4e-3d5241788660 g.chrX:76940500T>G ENST00000373344.5 - 8 809 c.e8-2 ATRX_ENST00000480283.1_Splice_Site|ATRX_ENST00000395603.3_Splice_Site NM_000489.3 NP_000480.2 P46100 ATRX_HUMAN alpha thalassemia/mental retardation syndrome X-linked DNA methylation|DNA recombination|DNA repair|regulation of transcription, DNA-dependent nuclear heterochromatin ATP binding|chromo shadow domain binding|DNA binding|DNA helicase activity|zinc ion binding p.?(1) bone(1)|breast(6)|central_nervous_system(31)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(15)|kidney(14)|large_intestine(1)|liver(1)|lung(40)|ovary(2)|pancreas(13)|prostate(5)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(2) 145 Phosphatidylserine(DB00144) AAAGCAATTCTATTAAAAGAA 0.294000 """Mis, F, N""" """Pancreatic neuroendocrine tumors, paediatric GBM""" ATR-X (alpha thalassemia/mental retardation) syndrome 44 5 0 0 1 0 0 TP53 7157 broad.mit.edu 37 17 7578394 7578394 + Missense_Mutation SNP T T C TCGA-HT-7477-01B-11D-A289-08 TCGA-HT-7477-10A-01D-A289-08 Untested Somatic Phase_I WXS none Illumina GAIIx e4c150f7-c19e-4f15-b67f-67af9eb7f46c 60866491-f68b-4adc-9d4e-3d5241788660 g.chr17:7578394T>C ENST00000420246.2 - 5 668 c.536A>G c.(535-537)cAt>cGt p.H179R TP53_ENST00000359597.4_Missense_Mutation_p.H179R|TP53_ENST00000455263.2_Missense_Mutation_p.H179R|TP53_ENST00000445888.2_Missense_Mutation_p.H179R|TP53_ENST00000574684.1_5'UTR|TP53_ENST00000269305.4_Missense_Mutation_p.H179R|TP53_ENST00000413465.2_Missense_Mutation_p.H179R NM_001126114.2|NM_001276696.1 NP_001119586.1|NP_001263625.1 P04637 P53_HUMAN tumor protein p53 179 Interaction with AXIN1 (By similarity).|Interaction with HIPK1 (By similarity).|Required for interaction with FBXO42. H -> D (in sporadic cancers; somatic mutation).|H -> L (in sporadic cancers; somatic mutation).|H -> N (in sporadic cancers; somatic mutation).|H -> P (in sporadic cancers; somatic mutation).|H -> Q (in sporadic cancers; somatic mutation).|H -> R (in sporadic cancers; somatic mutation).|H -> Y (in LFS; germline mutation and in sporadic cancers; somatic mutation).|HH -> QS (in a sporadic cancer; somatic mutation). activation of caspase activity by cytochrome c|base-excision repair|blood coagulation|cell cycle arrest|cell differentiation|cell proliferation|cellular protein localization|cellular response to drug|cellular response to glucose starvation|cellular response to hypoxia|cellular response to ionizing radiation|cellular response to UV|determination of adult lifespan|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|ER overload response|interspecies interaction between organisms|negative regulation of apoptosis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of helicase activity|negative regulation of transcription from RNA polymerase II promoter|nucleotide-excision repair|oxidative stress-induced premature senescence|positive regulation of histone deacetylation|positive regulation of neuron apoptosis|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of reactive oxygen species metabolic process|positive regulation of thymocyte apoptosis|positive regulation of transcription from RNA polymerase II promoter|protein localization|protein tetramerization|Ras protein signal transduction|regulation of mitochondrial membrane permeability|replicative senescence|response to antibiotic|response to gamma radiation|response to X-ray cytoplasm|cytosol|endoplasmic reticulum|insoluble fraction|mitochondrion|nuclear chromatin|nuclear matrix|nucleolus|nucleus|PML body|protein complex|replication fork ATP binding|chaperone binding|chromatin binding|copper ion binding|damaged DNA binding|DNA strand annealing activity|histone acetyltransferase binding|p53 binding|protease binding|protein binding|protein heterodimerization activity|protein kinase binding|protein N-terminus binding|protein phosphatase 2A binding|RNA polymerase II transcription factor binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|transcription repressor activity|ubiquitin protein ligase binding|zinc ion binding p.H179R(108)|p.H179L(43)|p.P177_C182delPHHERC(8)|p.0?(8)|p.H47L(4)|p.H86L(4)|p.C176_R181delCPHHER(3)|p.R174fs*24(3)|p.H179P(3)|p.H178_S183delHHERCS(3)|p.R175_E180delRCPHHE(3)|p.P177fs*3(2)|p.V173fs*59(2)|p.H86R(2)|p.H47R(2)|p.R174fs*1(2)|p.H179fs*68(1)|p.C176fs*65(1)|p.P177_H179delPHH(1)|p.V173fs*23(1)|p.V172_E180delVVRRCPHHE(1)|p.R174_H179delRRCPHH(1)|p.E171_H179delEVVRRCPHH(1)|p.R81fs*24(1)|p.R174_E180>K(1)|p.H46_S51delHHERCS(1)|p.H178fs*6(1)|p.P177_E180delPHHE(1)|p.R42fs*24(1)|p.H85_S90delHHERCS(1)|p.E171fs*1(1)|p.R174fs*3(1)|p.E171fs*61(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) GCAGCGCTCATGGTGGGGGCA 0.642000 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) 72 9 0 0 1 0 0 RGS12 6002 broad.mit.edu 37 4 3318009 3318009 + Missense_Mutation SNP G G A TCGA-HT-7477-01B-11D-A289-08 TCGA-HT-7477-10A-01D-A289-08 Untested Somatic Phase_I WXS none Illumina GAIIx e4c150f7-c19e-4f15-b67f-67af9eb7f46c 60866491-f68b-4adc-9d4e-3d5241788660 g.chr4:3318009G>A ENST00000336727.3 + 2 1016 c.112G>A c.(112-114)Gga>Aga p.G38R RGS12_ENST00000543385.1_Missense_Mutation_p.G38R|RGS12_ENST00000382788.3_Missense_Mutation_p.G38R|RGS12_ENST00000344733.5_Missense_Mutation_p.G38R NM_002926.3 NP_002917.1 O14924 RGS12_HUMAN regulator of G-protein signaling 12 38 PDZ. condensed nuclear chromosome|cytoplasm|plasma membrane GTPase activator activity|receptor signaling protein activity autonomic_ganglia(1)|breast(4)|endometrium(3)|kidney(2)|large_intestine(9)|lung(16)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1) 43 UCEC - Uterine corpus endometrioid carcinoma (64;0.168) CACGCTTTCGGGACAGGCACC 0.637000 18 170 0 0 1 0 0 LAD1 3898 broad.mit.edu 37 1 201352455 201352455 + Missense_Mutation SNP G G A TCGA-HT-7477-01B-11D-A289-08 TCGA-HT-7477-10A-01D-A289-08 Untested Somatic Phase_I WXS none Illumina GAIIx e4c150f7-c19e-4f15-b67f-67af9eb7f46c 60866491-f68b-4adc-9d4e-3d5241788660 g.chr1:201352455G>A ENST00000391967.2 - 6 1539 c.1238C>T c.(1237-1239)aCg>aTg p.T413M LAD1_ENST00000367313.3_Missense_Mutation_p.T427M|LAD1_ENST00000488842.1_5'UTR NM_005558.3 NP_005549.2 O00515 LAD1_HUMAN ladinin 1 413 basement membrane structural molecule activity breast(2)|central_nervous_system(1)|endometrium(1)|large_intestine(5)|lung(6)|prostate(2)|skin(2) 19 CCGTATGGCCGTGTGGTATCT 0.597000 64 181 0 0 1 0 0 FAT3 120114 broad.mit.edu 37 11 92624025 92624025 + Missense_Mutation SNP G G T TCGA-HT-7477-01B-11D-A289-08 TCGA-HT-7477-10A-01D-A289-08 Untested Somatic Phase_I WXS none Illumina GAIIx e4c150f7-c19e-4f15-b67f-67af9eb7f46c 60866491-f68b-4adc-9d4e-3d5241788660 g.chr11:92624025G>T ENST00000298047.6 + 27 13533 c.13516G>T c.(13516-13518)Gtg>Ttg p.V4506L FAT3_ENST00000409404.2_Missense_Mutation_p.V4474L|FAT3_ENST00000533797.1_Missense_Mutation_p.V809L|FAT3_ENST00000489716.1_3'UTR|FAT3_ENST00000525166.1_Missense_Mutation_p.V4356L Q8TDW7 FAT3_HUMAN FAT atypical cadherin 3 4506 Pro-rich. homophilic cell adhesion|multicellular organismal development integral to membrane|plasma membrane calcium ion binding NS(1)|breast(2)|endometrium(10)|kidney(4)|large_intestine(11)|liver(2)|lung(37)|ovary(5)|pancreas(1)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(5) 85 Acute lymphoblastic leukemia(157;3.01e-05)|all_hematologic(158;0.00858) AACGGATTTGGTGGGCCCGCC 0.582000 TCGA Ovarian(4;0.039) 23 36 9.95505e-16 1.02944e-15 1 1 0 NBEAL2 23218 broad.mit.edu 37 3 47038035 47038035 + Missense_Mutation SNP T T C TCGA-HT-7477-01B-11D-A289-08 TCGA-HT-7477-10A-01D-A289-08 Untested Somatic Phase_I WXS none Illumina GAIIx e4c150f7-c19e-4f15-b67f-67af9eb7f46c 60866491-f68b-4adc-9d4e-3d5241788660 g.chr3:47038035T>C ENST00000450053.3 + 16 2605 c.2426T>C c.(2425-2427)tTt>tCt p.F809S NBEAL2_ENST00000383740.2_5'UTR|NBEAL2_ENST00000292309.5_Missense_Mutation_p.F809S NM_015175.2 NP_055990.1 Q6ZNJ1 NBEL2_HUMAN neurobeachin-like 2 809 binding NS(1)|breast(1)|central_nervous_system(3)|cervix(2)|endometrium(8)|kidney(5)|large_intestine(9)|lung(9)|ovary(4)|pancreas(1)|prostate(3)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1) 51 Acute lymphoblastic leukemia(5;0.0534) BRCA - Breast invasive adenocarcinoma(193;0.0012)|KIRC - Kidney renal clear cell carcinoma(197;0.00575)|Kidney(197;0.00656) GTGGCCATCTTTCACGAAGCC 0.657000 6 10 0 0 1 0 0 DBNL 28988 broad.mit.edu 37 7 44097451 44097451 + Missense_Mutation SNP A A G TCGA-HT-7477-01B-11D-A289-08 TCGA-HT-7477-10A-01D-A289-08 Untested Somatic Phase_I WXS none Illumina GAIIx e4c150f7-c19e-4f15-b67f-67af9eb7f46c 60866491-f68b-4adc-9d4e-3d5241788660 g.chr7:44097451A>G ENST00000494774.1 + 6 566 c.545A>G c.(544-546)aAa>aGa p.K182R DBNL_ENST00000448521.1_Missense_Mutation_p.K182R|DBNL_ENST00000456905.1_Missense_Mutation_p.K133R|DBNL_ENST00000440166.1_Missense_Mutation_p.K79R|DBNL_ENST00000490734.2_Missense_Mutation_p.K87R|DBNL_ENST00000497184.1_3'UTR|DBNL_ENST00000452943.1_Missense_Mutation_p.K157R|DBNL_ENST00000468694.1_Missense_Mutation_p.K182R NM_014063.6 NP_054782.2 Q9UJU6 DBNL_HUMAN drebrin-like 182 activation of JUN kinase activity|cellular component disassembly involved in apoptosis|endocytosis|Rac protein signal transduction cell cortex|cytoskeleton|cytosol|lamellipodium actin binding|enzyme activator activity|identical protein binding breast(1)|large_intestine(3)|lung(5)|ovary(1)|skin(1)|stomach(1) 12 TTCTGGGCCAAAGCAGAGGTG 0.547000 27 41 0 0 1 0 0 C4orf21 55345 broad.mit.edu 37 4 113475127 113475127 + Missense_Mutation SNP C C A TCGA-HT-7477-01B-11D-A289-08 TCGA-HT-7477-10A-01D-A289-08 Untested Somatic Phase_I WXS none Illumina GAIIx e4c150f7-c19e-4f15-b67f-67af9eb7f46c 60866491-f68b-4adc-9d4e-3d5241788660 g.chr4:113475127C>A ENST00000505019.1 - 22 5335 c.5210G>T c.(5209-5211)gGc>gTc p.G1737V NM_018392.4 NP_060862.3 Q86YA3 CD021_HUMAN chromosome 4 open reading frame 21 0 breast(1)|central_nervous_system(2)|endometrium(3)|kidney(5)|large_intestine(6)|lung(21)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 45 Ovarian(17;0.156) OV - Ovarian serous cystadenocarcinoma(123;0.000676) ATTTTCTGAGCCAGCATGCAA 0.313000 13 116 1.5739e-10 1.59138e-10 1 1 0 TTBK2 146057 broad.mit.edu 37 15 43132589 43132589 + Missense_Mutation SNP T T G TCGA-HT-7477-01B-11D-A289-08 TCGA-HT-7477-10A-01D-A289-08 Untested Somatic Phase_I WXS none Illumina GAIIx e4c150f7-c19e-4f15-b67f-67af9eb7f46c 60866491-f68b-4adc-9d4e-3d5241788660 g.chr15:43132589T>G ENST00000267890.6 - 4 368 c.260A>C c.(259-261)gAt>gCt p.D87A TTBK2_ENST00000567840.1_Missense_Mutation_p.D87A|TTBK2_ENST00000567274.1_Missense_Mutation_p.D87A NM_173500.3 NP_775771.3 Q6IQ55 TTBK2_HUMAN tau tubulin kinase 2 87 Protein kinase. cell death ATP binding|protein serine/threonine kinase activity NS(1)|cervix(2)|endometrium(4)|kidney(2)|large_intestine(8)|lung(17)|ovary(2)|pancreas(1)|prostate(1)|skin(3)|stomach(2) 43 all_cancers(109;6.11e-16)|all_epithelial(112;5.5e-14)|Lung NSC(122;1.76e-08)|all_lung(180;6.04e-08)|Melanoma(134;0.0179)|Colorectal(260;0.216) GBM - Glioblastoma multiforme(94;3.23e-07) GTTGAATCGATCATTCCTCCC 0.323000 5 207 0 0 1 0 0 OR4S2 219431 broad.mit.edu 37 11 55419308 55419308 + Missense_Mutation SNP G G T TCGA-HT-7477-01B-11D-A289-08 TCGA-HT-7477-10A-01D-A289-08 Untested Somatic Phase_I WXS none Illumina GAIIx e4c150f7-c19e-4f15-b67f-67af9eb7f46c 60866491-f68b-4adc-9d4e-3d5241788660 g.chr11:55419308G>T ENST00000312422.2 + 1 929 c.929G>T c.(928-930)gGg>gTg p.G310V NM_001004059.2 NP_001004059.2 Q8NH73 OR4S2_HUMAN olfactory receptor, family 4, subfamily S, member 2 310 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity endometrium(1)|kidney(2)|large_intestine(4)|lung(28)|ovary(2)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1) 45 all_epithelial(135;0.0748) GAGGCTAAAGGGAAATAGTTG 0.363000 62 85 1.38814e-16 1.45196e-16 1 1 0 PTGS2 5743 broad.mit.edu 37 1 186643728 186643728 + Silent SNP A A G TCGA-HT-7477-01B-11D-A289-08 TCGA-HT-7477-10A-01D-A289-08 Untested Somatic Phase_I WXS none Illumina GAIIx e4c150f7-c19e-4f15-b67f-67af9eb7f46c 60866491-f68b-4adc-9d4e-3d5241788660 g.chr1:186643728A>G ENST00000367468.5 - 10 1708 c.1572T>C c.(1570-1572)gtT>gtC p.V524V PTGS2_ENST00000490885.2_5'UTR NM_000963.2 NP_000954.1 P35354 PGH2_HUMAN prostaglandin-endoperoxide synthase 2 (prostaglandin G/H synthase and cyclooxygenase) 524 cellular component movement|cyclooxygenase pathway|hormone biosynthetic process|positive regulation of brown fat cell differentiation|positive regulation of cell migration involved in sprouting angiogenesis|positive regulation of fever generation|positive regulation of fibroblast growth factor production|positive regulation of nitric oxide biosynthetic process|positive regulation of platelet-derived growth factor production|positive regulation of prostaglandin biosynthetic process|positive regulation of transforming growth factor-beta production|positive regulation vascular endothelial growth factor production|regulation of blood pressure|response to oxidative stress|xenobiotic metabolic process endoplasmic reticulum lumen|endoplasmic reticulum membrane|microsome|neuron projection|nucleus enzyme binding|heme binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|peroxidase activity|prostaglandin-endoperoxide synthase activity breast(1)|central_nervous_system(1)|endometrium(1)|kidney(3)|large_intestine(5)|lung(11)|ovary(1)|skin(2)|upper_aerodigestive_tract(2) 27 Acetaminophen(DB00316)|Aspirin(DB00945)|Balsalazide(DB01014)|Bromfenac(DB00963)|Carprofen(DB00821)|Celecoxib(DB00482)|Ciclopirox(DB01188)|Diclofenac(DB00586)|Diflunisal(DB00861)|Epoprostenol(DB01240)|Etodolac(DB00749)|Etoricoxib(DB01628)|Fenoprofen(DB00573)|Flurbiprofen(DB00712)|gamma-Homolinolenic acid(DB00154)|Ginseng(DB01404)|Ibuprofen(DB01050)|Icosapent(DB00159)|Indomethacin(DB00328)|Ketoprofen(DB01009)|Ketorolac(DB00465)|Lenalidomide(DB00480)|Lumiracoxib(DB01283)|Meclofenamic acid(DB00939)|Mefenamic acid(DB00784)|Meloxicam(DB00814)|Mesalazine(DB00244)|Nabumetone(DB00461)|Naproxen(DB00788)|Oxaprozin(DB00991)|Phenylbutazone(DB00812)|Rofecoxib(DB00533)|Salicyclic acid(DB00936)|Salsalate(DB01399)|Sulindac(DB00605)|Suprofen(DB00870)|Tenoxicam(DB00469)|Thalidomide(DB01041)|Tiaprofenic acid(DB01600)|Tolmetin(DB00500)|Valdecoxib(DB00580) GAGAACATATAACATTACCCA 0.458000 21 105 0 0 1 0 0 CELP 0 broad.mit.edu 37 9 135961796 135961796 + RNA SNP C C T rs10901233 by1000genomes TCGA-HT-7477-01B-11D-A289-08 TCGA-HT-7477-10A-01D-A289-08 Untested Somatic Phase_I WXS none Illumina GAIIx e4c150f7-c19e-4f15-b67f-67af9eb7f46c 60866491-f68b-4adc-9d4e-3d5241788660 g.chr9:135961796C>T ENST00000411440.2 + 0 631 NR_001275.2 CAAGACAGGACAGTCTCTAAG 0.597000 11 20 0 0 1 0 0 DLGAP5 9787 broad.mit.edu 37 14 55643912 55643912 + Missense_Mutation SNP G G A TCGA-HT-7477-01B-11D-A289-08 TCGA-HT-7477-10A-01D-A289-08 Untested Somatic Phase_I WXS none Illumina GAIIx e4c150f7-c19e-4f15-b67f-67af9eb7f46c 60866491-f68b-4adc-9d4e-3d5241788660 g.chr14:55643912G>A ENST00000247191.2 - 8 1133 c.917C>T c.(916-918)tCc>tTc p.S306F DLGAP5_ENST00000395425.2_Missense_Mutation_p.S306F NM_014750.4 NP_055565.3 Q15398 DLGP5_HUMAN discs, large (Drosophila) homolog-associated protein 5 306 cell proliferation|cell-cell signaling|mitotic chromosome movement towards spindle pole|positive regulation of mitotic metaphase/anaphase transition nucleus|spindle pole centrosome phosphoprotein phosphatase activity|protein binding biliary_tract(1)|breast(2)|cervix(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(8)|lung(10)|ovary(2)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(2) 44 AGGTGCAAAGGAATTCTTCCC 0.383000 19 12 0 0 1 0 0 TRIML2 205860 broad.mit.edu 37 4 189018488 189018488 + Missense_Mutation SNP A A G TCGA-HT-7477-01B-11D-A289-08 TCGA-HT-7477-10A-01D-A289-08 Untested Somatic Phase_I WXS none Illumina GAIIx e4c150f7-c19e-4f15-b67f-67af9eb7f46c 60866491-f68b-4adc-9d4e-3d5241788660 g.chr4:189018488A>G ENST00000512729.1 - 5 858 c.484T>C c.(484-486)Tct>Cct p.S162P TRIML2_ENST00000326754.3_Missense_Mutation_p.S187P NM_173553.1 NP_775824.1 Q8N7C3 TRIMM_HUMAN tripartite motif family-like 2 162 ligase activity central_nervous_system(2)|kidney(1)|large_intestine(7)|lung(25)|prostate(3)|urinary_tract(1) 39 all_cancers(14;3.11e-44)|all_epithelial(14;7.86e-31)|all_lung(41;4.3e-13)|Lung NSC(41;9.69e-13)|Melanoma(20;7.86e-05)|Breast(6;0.000148)|all_hematologic(60;0.0202)|Hepatocellular(41;0.0218)|Renal(120;0.0376)|Prostate(90;0.0513) OV - Ovarian serous cystadenocarcinoma(60;1.79e-11)|BRCA - Breast invasive adenocarcinoma(30;4.52e-06)|GBM - Glioblastoma multiforme(59;1.62e-05)|STAD - Stomach adenocarcinoma(60;0.000279)|LUSC - Lung squamous cell carcinoma(40;0.0091)|READ - Rectum adenocarcinoma(43;0.163) CTTTCTAAAGAGTATTTTGCA 0.383000 41 57 0 0 1 0 0 LRRC4 64101 broad.mit.edu 37 7 127668930 127668930 + Silent SNP G G C rs139849197 TCGA-HT-7477-01B-11D-A289-08 TCGA-HT-7477-10A-01D-A289-08 Untested Somatic Phase_I WXS none Illumina GAIIx e4c150f7-c19e-4f15-b67f-67af9eb7f46c 60866491-f68b-4adc-9d4e-3d5241788660 g.chr7:127668930G>C ENST00000249363.3 - 2 2021 c.1764C>G c.(1762-1764)tcC>tcG p.S588S SND1_ENST00000354725.3_Intron NM_022143.4 NP_071426.1 Q9HBW1 LRRC4_HUMAN leucine rich repeat containing 4 588 cell junction|integral to membrane|postsynaptic membrane breast(1)|central_nervous_system(1)|endometrium(8)|kidney(3)|large_intestine(6)|lung(4)|pancreas(1)|skin(2) 26 Lung(243;0.124) CTGATACACCGGACGGAgctg 0.547000 20 21 0 0 1 0 0 ZER1 10444 broad.mit.edu 37 9 131503855 131503855 + Missense_Mutation SNP G G A TCGA-HT-7477-01B-11D-A289-08 TCGA-HT-7477-10A-01D-A289-08 Untested Somatic Phase_I WXS none Illumina GAIIx e4c150f7-c19e-4f15-b67f-67af9eb7f46c 60866491-f68b-4adc-9d4e-3d5241788660 g.chr9:131503855G>A ENST00000291900.2 - 11 2102 c.1696C>T c.(1696-1698)Ctc>Ttc p.L566F NM_006336.2 NP_006327.2 Q7Z7L7 ZER1_HUMAN zyg-11 related, cell cycle regulator 566 ATP hydrolysis coupled proton transport|regulation of ubiquitin-protein ligase activity Cul2-RING ubiquitin ligase complex|vacuolar proton-transporting V-type ATPase, V1 domain protein binding|proton-transporting ATPase activity, rotational mechanism|ubiquitin-protein ligase activity endometrium(1)|kidney(2)|large_intestine(5)|lung(4)|ovary(1)|prostate(1)|urinary_tract(1) 15 TTGAAATTGAGGAACATCTCG 0.567000 39 175 0 0 1 0 0 TTN 7273 broad.mit.edu 37 2 179588855 179588855 + Missense_Mutation SNP G G A TCGA-HT-7477-01B-11D-A289-08 TCGA-HT-7477-10A-01D-A289-08 Untested Somatic Phase_I WXS none Illumina GAIIx e4c150f7-c19e-4f15-b67f-67af9eb7f46c 60866491-f68b-4adc-9d4e-3d5241788660 g.chr2:179588855G>A ENST00000589042.1 - 73 21355 c.21131C>T c.(21130-21132)cCc>cTc p.P7044L TTN_ENST00000359218.5_Intron|TTN_ENST00000342992.6_Missense_Mutation_p.P5800L|TTN_ENST00000460472.2_Intron|TTN_ENST00000591111.1_Missense_Mutation_p.P6727L|TTN_ENST00000342175.6_Intron|TTN-AS1_ENST00000585451.1_RNA|RP11-171I2.1_ENST00000590024.1_RNA NM_001267550.1 NP_001254479.1 Q8WZ42 TITIN_HUMAN titin 6727 Ig-like 52. ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26) 1448 OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134) TGTGAAAGAGGGAGGAACTGC 0.423000 12 8 0 0 1 0 0 NR3C2 0 broad.mit.edu 37 4 149075976 149075976 + Silent SNP T T G TCGA-HT-7477-01B-11D-A289-08 TCGA-HT-7477-10A-01D-A289-08 Untested Somatic Phase_I WXS none Illumina GAIIx e4c150f7-c19e-4f15-b67f-67af9eb7f46c 60866491-f68b-4adc-9d4e-3d5241788660 g.chr4:149075976T>G ENST00000355292.3 - 5 2465 c.2103A>C c.(2101-2103)ccA>ccC p.P701P NR3C2_ENST00000342437.4_Intron|NR3C2_ENST00000511528.1_Silent_p.P701P|NR3C2_ENST00000512865.1_Intron|NR3C2_ENST00000344721.4_Silent_p.P697P|NR3C2_ENST00000503313.1_5'UTR|NR3C2_ENST00000358102.3_Silent_p.P697P|RP11-76G10.1_ENST00000514843.1_RNA P08235 MCR_HUMAN nuclear receptor subfamily 3, group C, member 2 697 Hinge. regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor endoplasmic reticulum membrane|nucleoplasm protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|steroid binding|steroid hormone receptor activity|zinc ion binding breast(1)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(14)|liver(1)|lung(11)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2) 41 all_hematologic(180;0.151) GBM - Glioblastoma multiforme(119;0.0614) Desoxycorticosterone Pivalate(DB01134)|Eplerenone(DB00700)|Fludrocortisone(DB00687)|Spironolactone(DB00421) ggggtgggggtgggggtgggg 0.527000 8 14 0 0 1 0 0 ANKMY1 51281 broad.mit.edu 37 2 241468460 241468460 + Missense_Mutation SNP T T G TCGA-HT-7477-01B-11D-A289-08 TCGA-HT-7477-10A-01D-A289-08 Untested Somatic Phase_I WXS none Illumina GAIIx e4c150f7-c19e-4f15-b67f-67af9eb7f46c 60866491-f68b-4adc-9d4e-3d5241788660 g.chr2:241468460T>G ENST00000391987.1 - 5 1046 c.680A>C c.(679-681)aAg>aCg p.K227T ANKMY1_ENST00000403283.1_Intron|ANKMY1_ENST00000401804.1_Missense_Mutation_p.K316T|ANKMY1_ENST00000405523.3_Intron|ANKMY1_ENST00000373318.2_Intron|ANKMY1_ENST00000361678.4_Intron|ANKMY1_ENST00000272972.3_Missense_Mutation_p.K227T|ANKMY1_ENST00000373320.4_Intron|ANKMY1_ENST00000405002.1_Intron|ANKMY1_ENST00000462004.1_Intron|ANKMY1_ENST00000536462.1_Intron|ANKMY1_ENST00000406958.1_Intron Q9P2S6 ANKY1_HUMAN ankyrin repeat and MYND domain containing 1 227 zinc ion binding central_nervous_system(1)|endometrium(5)|large_intestine(4)|lung(14)|ovary(1)|prostate(2)|skin(1)|urinary_tract(2) 30 all_epithelial(40;2.79e-15)|Breast(86;2.41e-05)|Renal(207;0.00183)|Ovarian(221;0.0228)|all_lung(227;0.0335)|Lung NSC(271;0.106)|all_hematologic(139;0.158)|Melanoma(123;0.16)|Hepatocellular(293;0.244) Epithelial(32;1.03e-30)|all cancers(36;4.78e-28)|OV - Ovarian serous cystadenocarcinoma(60;1.45e-14)|Kidney(56;3.04e-09)|KIRC - Kidney renal clear cell carcinoma(57;3.23e-08)|BRCA - Breast invasive adenocarcinoma(100;7.8e-06)|Lung(119;0.00271)|LUSC - Lung squamous cell carcinoma(224;0.01)|Colorectal(34;0.0101)|COAD - Colon adenocarcinoma(134;0.0476) TCACCTGAACTTGTAAGTTTG 0.522000 26 117 0 0 1 0 0 FAHD2CP 0 broad.mit.edu 37 2 96687233 96687234 + RNA DEL AG AG - TCGA-HT-7477-01B-11D-A289-08 TCGA-HT-7477-10A-01D-A289-08 Untested Somatic Phase_I WXS none Illumina GAIIx e4c150f7-c19e-4f15-b67f-67af9eb7f46c 60866491-f68b-4adc-9d4e-3d5241788660 g.chr2:96687233_96687234delAG ENST00000607780.1 + 0 1061 TGAAAAGCAAAGAGAGCAAGGG 0.559 3 6 --- --- --- --- CDKL3 51265 broad.mit.edu 37 5 133695594 133695594 + Frame_Shift_Del DEL A A - TCGA-HT-7477-01B-11D-A289-08 TCGA-HT-7477-10A-01D-A289-08 Untested Somatic Phase_I WXS none Illumina GAIIx e4c150f7-c19e-4f15-b67f-67af9eb7f46c 60866491-f68b-4adc-9d4e-3d5241788660 g.chr5:133695594delA ENST00000521118.1 - 3 468 c.354delT c.(352-354)agfs p.S118fs CDKL3_ENST00000518409.1_Intron|CDKL3_ENST00000523832.1_Frame_Shift_Del_p.S118fs|CDKL3_ENST00000536186.1_Intron|CDKL3_ENST00000265334.4_Frame_Shift_Del_p.S118fs|CDKL3_ENST00000521755.1_Intron|CDKL3_ENST00000523054.1_5'UTR|CDKL3_ENST00000435240.2_Intron|CDKL3_ENST00000435211.1_Frame_Shift_Del_p.S118fs Q8IVW4 CDKL3_HUMAN cyclin-dependent kinase-like 3 118 Protein kinase. cytoplasm ATP binding|cyclin-dependent protein kinase activity breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(2)|lung(3)|prostate(3) 11 KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365) TTACATTATTACTGTGAAGAT 0.338 2 4 --- --- --- --- STK19 8859 broad.mit.edu 37 6 31939825 31939826 + Frame_Shift_Ins INS - - G TCGA-HT-7477-01B-11D-A289-08 TCGA-HT-7477-10A-01D-A289-08 Untested Somatic Phase_I WXS none Illumina GAIIx e4c150f7-c19e-4f15-b67f-67af9eb7f46c 60866491-f68b-4adc-9d4e-3d5241788660 g.chr6:31939825_31939826insG ENST00000375331.2 + 1 218_219 c.52_53insG c.(52-54)ggcfs p.G18fs DOM3Z_ENST00000478221.1_5'UTR|DOM3Z_ENST00000337523.5_5'UTR|STK19_ENST00000375333.2_Frame_Shift_Ins_p.G18fs|DOM3Z_ENST00000375349.3_5'UTR NM_004197.1 NP_004188.1 P49842 STK19_HUMAN serine/threonine kinase 19 18 nucleus ATP binding|protein binding|protein serine/threonine kinase activity skin(5)|upper_aerodigestive_tract(2) 7 GCGACAGTGGCGGGCAAACCCC 0.634 10 246 --- --- --- --- LILRB1 0 broad.mit.edu 37 19 55143156 55143157 + Frame_Shift_Del DEL TG TG - rs12462774 by1000genomes TCGA-HT-7477-01B-11D-A289-08 TCGA-HT-7477-10A-01D-A289-08 Untested Somatic Phase_I WXS none Illumina GAIIx e4c150f7-c19e-4f15-b67f-67af9eb7f46c 60866491-f68b-4adc-9d4e-3d5241788660 g.chr19:55143156_55143157delTG ENST00000396331.1 + 5 633_634 c.276_277delTG c.(274-279)cacafs p.HA92fs LILRB1_ENST00000396332.4_Frame_Shift_Del_p.HA92fs|LILRB1_ENST00000324602.7_Frame_Shift_Del_p.HA92fs|LILRB1_ENST00000418536.2_Frame_Shift_Del_p.HA92fs|LILRB1_ENST00000434867.2_Frame_Shift_Del_p.HA92fs|LILRB1_ENST00000396327.3_Frame_Shift_Del_p.HA92fs|LILRB1_ENST00000448689.1_Frame_Shift_Del_p.HA92fs|LILRB1_ENST00000396317.1_Frame_Shift_Del_p.HA92fs|LILRB1_ENST00000427581.2_Frame_Shift_Del_p.HA128fs|LILRB1_ENST00000396315.1_Frame_Shift_Del_p.HA92fs|LILRB1_ENST00000396321.2_Frame_Shift_Del_p.HA92fs NM_006669.3 NP_006660.3 Q8NHL6 LIRB1_HUMAN leukocyte immunoglobulin-like receptor, subfamily B (with TM and ITIM domains), member 1 92 Ig-like C2-type 1. regulation of immune response|response to virus integral to membrane|plasma membrane protein phosphatase 1 binding|receptor activity NS(2)|breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(13)|lung(38)|ovary(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(5)|urinary_tract(1) 74 GBM - Glioblastoma multiforme(193;0.0188) CCTGGGAACATGCAGGGCGGTA 0.554 HNSCC(37;0.09) 12 193 --- --- --- --- NUDT11 0 broad.mit.edu 37 X 51239296 51239309 + Translation_Start_Site DEL TCCTCGAGGCAGCC TCCTCGAGGCAGCC - rs78182391 TCGA-HT-7477-01B-11D-A289-08 TCGA-HT-7477-10A-01D-A289-08 Untested Somatic Phase_I WXS none Illumina GAIIx e4c150f7-c19e-4f15-b67f-67af9eb7f46c 60866491-f68b-4adc-9d4e-3d5241788660 g.chrX:51239296_51239309delTCCTCGAGGCAGCC ENST00000375992.3 - 0 139_152 NM_018159.3 NP_060629.2 Q96G61 NUD11_HUMAN nudix (nucleoside diphosphate linked moiety X)-type motif 11 cytoplasm diphosphoinositol-polyphosphate diphosphatase activity|metal ion binding p.?(5) breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(1)|lung(2)|prostate(1)|upper_aerodigestive_tract(2) 9 Ovarian(276;0.236) TTGCACTTCATCCTCGAGGCAGCCTCCTCGAGGC 0.692 HNSCC(48;0.14) 3 5 --- --- --- ---