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 ADAM21P1 0 broad.mit.edu 37 14 70714144 70714144 + RNA SNP A A G rs111296958 by1000genomes TCGA-QH-A65X-01A-11D-A32B-08 TCGA-QH-A65X-10D-01D-A329-08 Untested Somatic Phase_I WXS none Illumina GAIIx 32544a75-ede9-469c-a607-f954f919b504 f07e106d-56c9-4bc8-8ab6-10829e09a840 g.chr14:70714144A>G ENST00000530196.1 - 0 374 NR_003951.1 AGAGCTTCTTAACCCTCATAT 0.502000 3 70 0 0 1 0 0 ARSK 153642 broad.mit.edu 37 5 94927146 94927146 + Missense_Mutation SNP A A G TCGA-QH-A65X-01A-11D-A32B-08 TCGA-QH-A65X-10D-01D-A329-08 Untested Somatic Phase_I WXS none Illumina GAIIx 32544a75-ede9-469c-a607-f954f919b504 f07e106d-56c9-4bc8-8ab6-10829e09a840 g.chr5:94927146A>G ENST00000380009.4 + 6 1118 c.913A>G c.(913-915)Aaa>Gaa p.K305E NM_198150.2 NP_937793.1 Q6UWY0 ARSK_HUMAN arylsulfatase family, member K 305 extracellular region arylsulfatase activity|metal ion binding endometrium(2)|kidney(1)|large_intestine(3)|lung(8)|pancreas(1)|skin(1) 16 all_cancers(142;3.38e-06)|all_epithelial(76;6.57e-09)|all_lung(232;0.00307)|Lung NSC(167;0.00452)|Ovarian(225;0.00473) all cancers(79;6.5e-16) TCTTCTTCAGAAAACTATTGT 0.368000 9 74 0 0 1 0 0 COL12A1 1303 broad.mit.edu 37 6 75844499 75844499 + Missense_Mutation SNP C C T TCGA-QH-A65X-01A-11D-A32B-08 TCGA-QH-A65X-10D-01D-A329-08 Untested Somatic Phase_I WXS none Illumina GAIIx 32544a75-ede9-469c-a607-f954f919b504 f07e106d-56c9-4bc8-8ab6-10829e09a840 g.chr6:75844499C>T ENST00000322507.8 - 32 5776 c.5467G>A c.(5467-5469)Gta>Ata p.V1823I COL12A1_ENST00000345356.6_Missense_Mutation_p.V659I|COL12A1_ENST00000483888.2_Missense_Mutation_p.V1823I|COL12A1_ENST00000416123.2_Missense_Mutation_p.V1823I NM_004370.5 NP_004361.3 Q99715 COCA1_HUMAN collagen, type XII, alpha 1 1823 Fibronectin type-III 13. cell adhesion|collagen fibril organization|skeletal system development collagen type XII|extracellular space extracellular matrix structural constituent conferring tensile strength breast(7)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(5)|kidney(5)|large_intestine(44)|liver(1)|lung(77)|ovary(7)|prostate(3)|skin(4)|stomach(2)|upper_aerodigestive_tract(4)|urinary_tract(2) 169 AGAGAGGATACGGTGATAGTG 0.468000 28 30 0 0 1 0 0 DUSP27 92235 broad.mit.edu 37 1 167095078 167095078 + Missense_Mutation SNP T T C TCGA-QH-A65X-01A-11D-A32B-08 TCGA-QH-A65X-10D-01D-A329-08 Untested Somatic Phase_I WXS none Illumina GAIIx 32544a75-ede9-469c-a607-f954f919b504 f07e106d-56c9-4bc8-8ab6-10829e09a840 g.chr1:167095078T>C ENST00000361200.2 + 6 876 c.710T>C c.(709-711)gTc>gCc p.V237A DUSP27_ENST00000271385.5_Missense_Mutation_p.V237A|DUSP27_ENST00000443333.1_Missense_Mutation_p.V237A Q5VZP5 DUS27_HUMAN dual specificity phosphatase 27 (putative) 237 Tyrosine-protein phosphatase. protein dephosphorylation protein tyrosine/serine/threonine phosphatase activity NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(4)|kidney(2)|large_intestine(11)|liver(1)|lung(46)|ovary(5)|prostate(5)|skin(4)|upper_aerodigestive_tract(3) 89 GTGCTGGTGGTCGCCTACCTG 0.527000 4 26 0 0 1 0 0 SYNE1 23345 broad.mit.edu 37 6 152652511 152652511 + Missense_Mutation SNP G G A TCGA-QH-A65X-01A-11D-A32B-08 TCGA-QH-A65X-10D-01D-A329-08 Untested Somatic Phase_I WXS none Illumina GAIIx 32544a75-ede9-469c-a607-f954f919b504 f07e106d-56c9-4bc8-8ab6-10829e09a840 g.chr6:152652511G>A ENST00000367255.5 - 78 13910 c.13309C>T c.(13309-13311)Ctc>Ttc p.L4437F SYNE1_ENST00000341594.5_Missense_Mutation_p.L4302F|SYNE1_ENST00000423061.1_Missense_Mutation_p.L4366F|SYNE1_ENST00000265368.4_Missense_Mutation_p.L4437F|SYNE1_ENST00000448038.1_Missense_Mutation_p.L4366F NM_182961.3 NP_892006.3 Q8NF91 SYNE1_HUMAN spectrin repeat containing, nuclear envelope 1 4437 cell death|cytoskeletal anchoring at nuclear membrane|Golgi organization|muscle cell differentiation|nuclear matrix anchoring at nuclear membrane cytoskeleton|Golgi apparatus|integral to membrane|nuclear outer membrane|postsynaptic membrane|sarcomere|SUN-KASH complex actin binding|lamin binding NS(3)|biliary_tract(1)|breast(17)|central_nervous_system(21)|cervix(3)|endometrium(27)|haematopoietic_and_lymphoid_tissue(4)|kidney(16)|large_intestine(138)|liver(1)|lung(190)|ovary(11)|pancreas(5)|prostate(12)|skin(20)|stomach(3)|upper_aerodigestive_tract(33)|urinary_tract(19) 524 Ovarian(120;0.0955) BRCA - Breast invasive adenocarcinoma(37;0.243) OV - Ovarian serous cystadenocarcinoma(155;2.24e-10) AAGTCACTGAGACAATTCACG 0.493000 HNSCC(10;0.0054) 17 34 0 0 1 0 0 ARHGAP36 158763 broad.mit.edu 37 X 130220336 130220336 + Missense_Mutation SNP C C T TCGA-QH-A65X-01A-11D-A32B-08 TCGA-QH-A65X-10D-01D-A329-08 Untested Somatic Phase_I WXS none Illumina GAIIx 32544a75-ede9-469c-a607-f954f919b504 f07e106d-56c9-4bc8-8ab6-10829e09a840 g.chrX:130220336C>T ENST00000276211.5 + 10 1660 c.1315C>T c.(1315-1317)Cgc>Tgc p.R439C ARHGAP36_ENST00000370922.1_Missense_Mutation_p.R427C|ARHGAP36_ENST00000370921.1_Missense_Mutation_p.R303C NM_144967.3 NP_659404.2 Q6ZRI8 RHG36_HUMAN Rho GTPase activating protein 36 439 regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction cytosol GTPase activator activity p.R439C(1) breast(1)|central_nervous_system(2)|endometrium(5)|kidney(3)|large_intestine(16)|lung(31)|ovary(4)|prostate(4)|skin(3)|urinary_tract(2) 71 GGTTGCTAAGCGCGTGTGGAA 0.453000 31 44 0 0 1 0 0 RP11-24M17.5 0 broad.mit.edu 37 15 76074431 76074431 + RNA SNP C C T rs149323153 by1000genomes TCGA-QH-A65X-01A-11D-A32B-08 TCGA-QH-A65X-10D-01D-A329-08 Untested Somatic Phase_I WXS none Illumina GAIIx 32544a75-ede9-469c-a607-f954f919b504 f07e106d-56c9-4bc8-8ab6-10829e09a840 g.chr15:76074431C>T ENST00000395215.3 + 0 610 p.S190L(2) CTCCAGTCCTCGAGCTGCAGA 0.547000 9 27 0 0 1 0 0 KCTD5 54442 broad.mit.edu 37 16 2747985 2747985 + Missense_Mutation SNP G G A TCGA-QH-A65X-01A-11D-A32B-08 TCGA-QH-A65X-10D-01D-A329-08 Untested Somatic Phase_I WXS none Illumina GAIIx 32544a75-ede9-469c-a607-f954f919b504 f07e106d-56c9-4bc8-8ab6-10829e09a840 g.chr16:2747985G>A ENST00000301738.4 + 3 514 c.440G>A c.(439-441)aGc>aAc p.S147N KCTD5_ENST00000564195.1_Intron NM_018992.3 NP_061865.1 Q9NXV2 KCTD5_HUMAN potassium channel tetramerization domain containing 5 147 interspecies interaction between organisms cytosol|nucleus|voltage-gated potassium channel complex protein binding|voltage-gated potassium channel activity haematopoietic_and_lymphoid_tissue(1)|lung(1) 2 GAACGAGACAGCAAAACATCG 0.438000 3 49 0 0 1 0 0 RAVER2 55225 broad.mit.edu 37 1 65272951 65272951 + Missense_Mutation SNP C C A TCGA-QH-A65X-01A-11D-A32B-08 TCGA-QH-A65X-10D-01D-A329-08 Untested Somatic Phase_I WXS none Illumina GAIIx 32544a75-ede9-469c-a607-f954f919b504 f07e106d-56c9-4bc8-8ab6-10829e09a840 g.chr1:65272951C>A ENST00000294428.3 + 9 1552 c.1474C>A c.(1474-1476)Cca>Aca p.P492T RAVER2_ENST00000430964.2_Intron|RAVER2_ENST00000371072.4_Missense_Mutation_p.P479T Q9HCJ3 RAVR2_HUMAN ribonucleoprotein, PTB-binding 2 492 cytoplasm|nucleus nucleotide binding|RNA binding breast(2)|endometrium(2)|kidney(1)|large_intestine(7)|lung(6)|prostate(2)|upper_aerodigestive_tract(2)|urinary_tract(2) 24 ACCATTCTTTCCAAATCAGCA 0.463000 3 18 2.56e-06 2.62244e-06 1 1 0 ZXDB 158586 broad.mit.edu 37 X 57618946 57618946 + Silent SNP G G A TCGA-QH-A65X-01A-11D-A32B-08 TCGA-QH-A65X-10D-01D-A329-08 Untested Somatic Phase_I WXS none Illumina GAIIx 32544a75-ede9-469c-a607-f954f919b504 f07e106d-56c9-4bc8-8ab6-10829e09a840 g.chrX:57618946G>A ENST00000374888.1 + 1 678 c.465G>A c.(463-465)ccG>ccA p.P155P NM_007157.3 NP_009088.1 P98169 ZXDB_HUMAN zinc finger, X-linked, duplicated B 155 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus nucleic acid binding|zinc ion binding NS(1)|central_nervous_system(2)|endometrium(5)|kidney(1)|large_intestine(1)|lung(7)|ovary(2)|prostate(2)|skin(6) 27 ctccggccccgatctccgccc 0.741000 4 6 0 0 1 0 0 RP11-423O2.5 0 broad.mit.edu 37 1 142803543 142803543 + RNA SNP C C T TCGA-QH-A65X-01A-11D-A32B-08 TCGA-QH-A65X-10D-01D-A329-08 Untested Somatic Phase_I WXS none Illumina GAIIx 32544a75-ede9-469c-a607-f954f919b504 f07e106d-56c9-4bc8-8ab6-10829e09a840 g.chr1:142803543C>T ENST00000423385.1 - 0 1422 TGTTGGAATTCCTGATGAATC 0.269000 4 157 0 0 1 0 0 SLC9A2 6549 broad.mit.edu 37 2 103274268 103274268 + Missense_Mutation SNP T T C TCGA-QH-A65X-01A-11D-A32B-08 TCGA-QH-A65X-10D-01D-A329-08 Untested Somatic Phase_I WXS none Illumina GAIIx 32544a75-ede9-469c-a607-f954f919b504 f07e106d-56c9-4bc8-8ab6-10829e09a840 g.chr2:103274268T>C ENST00000233969.2 + 2 677 c.535T>C c.(535-537)Tgg>Cgg p.W179R NM_003048.3 NP_003039.2 Q9UBY0 SL9A2_HUMAN solute carrier family 9, subfamily A (NHE2, cation proton antiporter 2), member 2 179 integral to membrane|plasma membrane sodium:hydrogen antiporter activity breast(5)|central_nervous_system(3)|endometrium(3)|kidney(1)|large_intestine(3)|lung(17)|prostate(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2) 42 AGGGACACTTTGGAATTCCAT 0.517000 6 201 0 0 1 0 0 SYT1 6857 broad.mit.edu 37 12 79837981 79837981 + Missense_Mutation SNP A A G TCGA-QH-A65X-01A-11D-A32B-08 TCGA-QH-A65X-10D-01D-A329-08 Untested Somatic Phase_I WXS none Illumina GAIIx 32544a75-ede9-469c-a607-f954f919b504 f07e106d-56c9-4bc8-8ab6-10829e09a840 g.chr12:79837981A>G ENST00000261205.4 + 10 1714 c.1057A>G c.(1057-1059)Atc>Gtc p.I353V SYT1_ENST00000552744.1_Missense_Mutation_p.I353V|SYT1_ENST00000393240.3_Missense_Mutation_p.I353V|SYT1_ENST00000457153.2_Missense_Mutation_p.I350V|RP1-78O14.1_ENST00000550268.1_lincRNA NM_005639.2 NP_005630.1 P21579 SYT1_HUMAN synaptotagmin I 353 C2 2.|Phospholipid binding (Probable). detection of calcium ion|glutamate secretion|neurotransmitter secretion|protein homooligomerization cell junction|chromaffin granule membrane|clathrin sculpted acetylcholine transport vesicle membrane|clathrin sculpted gamma-aminobutyric acid transport vesicle membrane|clathrin sculpted glutamate transport vesicle membrane|clathrin sculpted monoamine transport vesicle membrane|endocytic vesicle membrane|integral to membrane|synaptic vesicle membrane 1-phosphatidylinositol binding|low-density lipoprotein particle receptor binding|metal ion binding|syntaxin-1 binding|transporter activity NS(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(11)|ovary(1)|pancreas(2)|skin(6) 25 TTTTGAACAAATCCAGGTAAT 0.358000 51 74 0 0 1 0 0 MAU2 23383 broad.mit.edu 37 19 19458135 19458135 + Missense_Mutation SNP C C T TCGA-QH-A65X-01A-11D-A32B-08 TCGA-QH-A65X-10D-01D-A329-08 Untested Somatic Phase_I WXS none Illumina GAIIx 32544a75-ede9-469c-a607-f954f919b504 f07e106d-56c9-4bc8-8ab6-10829e09a840 g.chr19:19458135C>T ENST00000392313.5 + 13 1314 c.1268C>T c.(1267-1269)gCg>gTg p.A423V MAU2_ENST00000262815.8_Missense_Mutation_p.A423V NM_015329.3 NP_056144.3 Q9Y6X3 SCC4_HUMAN MAU2 sister chromatid cohesion factor 423 cell division|maintenance of mitotic sister chromatid cohesion chromatin|nucleoplasm|SMC loading complex protein N-terminus binding NS(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(5)|skin(1)|upper_aerodigestive_tract(1) 18 ACCAACCTGGCGAGTGTGTAT 0.537000 17 33 0 0 1 0 0 CHEK2 11200 broad.mit.edu 37 22 29091841 29091841 + Silent SNP G G A rs146546850 byFrequency TCGA-QH-A65X-01A-11D-A32B-08 TCGA-QH-A65X-10D-01D-A329-08 Untested Somatic Phase_I WXS none Illumina GAIIx 32544a75-ede9-469c-a607-f954f919b504 f07e106d-56c9-4bc8-8ab6-10829e09a840 g.chr22:29091841G>A ENST00000544772.1 - 12 1889 c.453C>T c.(451-453)tcC>tcT p.S151S CHEK2_ENST00000328354.6_Silent_p.S372S|CHEK2_ENST00000382566.1_3'UTR|CHEK2_ENST00000405598.1_Silent_p.S372S|CHEK2_ENST00000404276.1_Silent_p.S372S|CHEK2_ENST00000403642.1_Silent_p.S281S|CHEK2_ENST00000402731.1_Silent_p.S343S|CHEK2_ENST00000382578.1_Silent_p.S281S|CHEK2_ENST00000382580.2_Silent_p.S415S|CHEK2_ENST00000348295.3_Silent_p.S343S|CHEK2_ENST00000382565.1_Intron 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 5 54 0 0 1 0 0 SLC6A10P 0 broad.mit.edu 37 16 32890622 32890622 + RNA SNP T T G TCGA-QH-A65X-01A-11D-A32B-08 TCGA-QH-A65X-10D-01D-A329-08 Untested Somatic Phase_I WXS none Illumina GAIIx 32544a75-ede9-469c-a607-f954f919b504 f07e106d-56c9-4bc8-8ab6-10829e09a840 g.chr16:32890622T>G ENST00000330048.5 - 0 3176 NR_003083.2 CGTTGGTGTTTTTGTAGACCA 0.617000 3 12 0 0 1 0 0 TUBB8P7 0 broad.mit.edu 37 16 90161578 90161578 + RNA SNP G G A rs13337896 by1000genomes TCGA-QH-A65X-01A-11D-A32B-08 TCGA-QH-A65X-10D-01D-A329-08 Untested Somatic Phase_I WXS none Illumina GAIIx 32544a75-ede9-469c-a607-f954f919b504 f07e106d-56c9-4bc8-8ab6-10829e09a840 g.chr16:90161578G>A ENST00000567960.1 + 0 314 TUBB8P7_ENST00000564451.1_RNA p.R105H(3) GCCAAGGGACGCTACACCGAA 0.587000 6 28 0 0 1 0 0 GRIN3B 116444 broad.mit.edu 37 19 1005263 1005263 + Missense_Mutation SNP C C T TCGA-QH-A65X-01A-11D-A32B-08 TCGA-QH-A65X-10D-01D-A329-08 Untested Somatic Phase_I WXS none Illumina GAIIx 32544a75-ede9-469c-a607-f954f919b504 f07e106d-56c9-4bc8-8ab6-10829e09a840 g.chr19:1005263C>T ENST00000234389.3 + 3 1782 c.1763C>T c.(1762-1764)aCc>aTc p.T588I GRIN3B_ENST00000588335.1_3'UTR NM_138690.1 NP_619635.1 O60391 NMD3B_HUMAN glutamate receptor, ionotropic, N-methyl-D-aspartate 3B 588 ionotropic glutamate receptor signaling pathway|protein insertion into membrane|regulation of calcium ion transport cell junction|N-methyl-D-aspartate selective glutamate receptor complex|neuronal cell body|outer membrane-bounded periplasmic space|postsynaptic membrane extracellular-glutamate-gated ion channel activity|glycine binding|ionotropic glutamate receptor activity|neurotransmitter receptor activity breast(1)|kidney(1)|lung(7)|prostate(1)|upper_aerodigestive_tract(1) 11 Acute lymphoblastic leukemia(61;4.36e-14)|all_hematologic(61;4.84e-09)|Lung NSC(49;0.000226)|all_lung(49;0.000353)|Breast(49;0.00066) UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18) Glycine(DB00145)|L-Glutamic Acid(DB00142)|Orphenadrine(DB01173) CTGCACCTCACCGCGCTCTTC 0.662000 22 25 0 0 1 0 0 MARVELD3 91862 broad.mit.edu 37 16 71668160 71668160 + Nonsense_Mutation SNP C C A TCGA-QH-A65X-01A-11D-A32B-08 TCGA-QH-A65X-10D-01D-A329-08 Untested Somatic Phase_I WXS none Illumina GAIIx 32544a75-ede9-469c-a607-f954f919b504 f07e106d-56c9-4bc8-8ab6-10829e09a840 g.chr16:71668160C>A ENST00000268485.3 + 3 704 c.660C>A c.(658-660)taC>taA p.Y220* MARVELD3_ENST00000567501.1_Missense_Mutation_p.Q34K|MARVELD3_ENST00000565261.1_Intron|MARVELD3_ENST00000299952.4_Intron NM_052858.3 NP_443090.4 Q96A59 MALD3_HUMAN MARVEL domain containing 3 220 MARVEL. integral to membrane NS(1)|endometrium(3)|large_intestine(5)|lung(6)|skin(2) 17 Ovarian(137;0.125) CTGTGTCTTACAGTTCCACAG 0.532000 43 55 7.05121e-23 7.40377e-23 1 1 0 TFAP2C 7022 broad.mit.edu 37 20 55211767 55211767 + Nonsense_Mutation SNP C C T TCGA-QH-A65X-01A-11D-A32B-08 TCGA-QH-A65X-10D-01D-A329-08 Untested Somatic Phase_I WXS none Illumina GAIIx 32544a75-ede9-469c-a607-f954f919b504 f07e106d-56c9-4bc8-8ab6-10829e09a840 g.chr20:55211767C>T ENST00000201031.2 + 6 1267 c.1024C>T c.(1024-1026)Cga>Tga p.R342* TFAP2C_ENST00000544508.1_Nonsense_Mutation_p.R173* NM_003222.3 NP_003213.1 Q92754 AP2C_HUMAN transcription factor AP-2 gamma (activating enhancer binding protein 2 gamma) 342 H-S-H (helix-span-helix), dimerization. cell-cell signaling|male gonad development|regulation of transcription from RNA polymerase II promoter nucleus DNA binding|protein dimerization activity|sequence-specific DNA binding transcription factor activity central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(4)|upper_aerodigestive_tract(1)|urinary_tract(1) 13 Colorectal(105;0.229) TCTTGGAGGACGAAATGAGAT 0.443000 25 32 0 0 1 0 0 ANO9 338440 broad.mit.edu 37 11 429619 429619 + Missense_Mutation SNP C C T TCGA-QH-A65X-01A-11D-A32B-08 TCGA-QH-A65X-10D-01D-A329-08 Untested Somatic Phase_I WXS none Illumina GAIIx 32544a75-ede9-469c-a607-f954f919b504 f07e106d-56c9-4bc8-8ab6-10829e09a840 g.chr11:429619C>T ENST00000332826.6 - 11 950 c.866G>A c.(865-867)cGc>cAc p.R289H NM_001012302.2 NP_001012302.2 A1A5B4 ANO9_HUMAN anoctamin 9 289 chloride channel complex chloride channel activity central_nervous_system(2)|cervix(1)|endometrium(3)|kidney(1)|lung(5)|ovary(1)|prostate(4)|skin(4) 21 CACGCGGGCGCGCTGCCGCTT 0.687000 18 55 0 0 1 0 0 IDH2 3418 broad.mit.edu 37 15 90631838 90631838 + Missense_Mutation SNP C C T rs121913503 TCGA-QH-A65X-01A-11D-A32B-08 TCGA-QH-A65X-10D-01D-A329-08 Untested Somatic Phase_I WXS none Illumina GAIIx 32544a75-ede9-469c-a607-f954f919b504 f07e106d-56c9-4bc8-8ab6-10829e09a840 g.chr15:90631838C>T ENST00000330062.3 - 4 628 c.515G>A c.(514-516)aGg>aAg p.R172K IDH2_ENST00000539790.1_Missense_Mutation_p.R42K|IDH2_ENST00000559482.1_Intron|IDH2_ENST00000540499.2_Missense_Mutation_p.R120K NM_002168.2 NP_002159.2 P48735 IDHP_HUMAN isocitrate dehydrogenase 2 (NADP+), mitochondrial 172 2-oxoglutarate metabolic process|glyoxylate cycle|isocitrate metabolic process|tricarboxylic acid cycle mitochondrial matrix isocitrate dehydrogenase (NADP+) activity|magnesium ion binding|NAD binding p.R172K(116)|p.R172M(21)|p.R172N(1) biliary_tract(11)|bone(19)|central_nervous_system(107)|endometrium(1)|haematopoietic_and_lymphoid_tissue(953)|large_intestine(8)|lung(5)|skin(5) 1109 Melanoma(11;0.00551)|Lung NSC(78;0.0196)|all_lung(78;0.04) BRCA - Breast invasive adenocarcinoma(143;0.0146)|KIRC - Kidney renal clear cell carcinoma(17;0.0286)|Kidney(142;0.0514)|STAD - Stomach adenocarcinoma(125;0.106) ATGGGCGTGCCTGCCAATGGT 0.632000 M GBM 21 32 0 0 1 0 0 AC008103.5 0 broad.mit.edu 37 22 18846098 18846098 + RNA SNP G G A rs9306211 TCGA-QH-A65X-01A-11D-A32B-08 TCGA-QH-A65X-10D-01D-A329-08 Untested Somatic Phase_I WXS none Illumina GAIIx 32544a75-ede9-469c-a607-f954f919b504 f07e106d-56c9-4bc8-8ab6-10829e09a840 g.chr22:18846098G>A ENST00000412938.1 + 0 3456 ATGCCTCGGCGCTCGATCTCC 0.622000 4 22 0 0 1 0 0 NUFIP1 26747 broad.mit.edu 37 13 45517620 45517620 + Missense_Mutation SNP G G A rs115794259 byFrequency TCGA-QH-A65X-01A-11D-A32B-08 TCGA-QH-A65X-10D-01D-A329-08 Untested Somatic Phase_I WXS none Illumina GAIIx 32544a75-ede9-469c-a607-f954f919b504 f07e106d-56c9-4bc8-8ab6-10829e09a840 g.chr13:45517620G>A ENST00000379161.4 - 9 1374 c.1328C>T c.(1327-1329)aCg>aTg p.T443M NM_012345.2 NP_036477.2 Q9UHK0 NUFP1_HUMAN nuclear fragile X mental retardation protein interacting protein 1 443 box C/D snoRNP assembly|positive regulation of transcription from RNA polymerase II promoter|RNA processing actin cytoskeleton|cytosolic ribosome|nuclear matrix|nucleolus|perichromatin fibrils|pre-snoRNP complex|presynaptic active zone|transcription elongation factor complex DNA binding|identical protein binding|protein binding, bridging|RNA binding|zinc ion binding breast(2)|cervix(1)|endometrium(2)|large_intestine(2)|lung(4)|prostate(4)|skin(3) 18 Lung NSC(96;8.23e-05)|Breast(139;0.00378)|Prostate(109;0.0107)|all_hematologic(4;0.014)|Lung SC(185;0.0262)|Hepatocellular(98;0.0524)|Acute lymphoblastic leukemia(4;0.143) KIRC - Kidney renal clear cell carcinoma(16;0.234) GBM - Glioblastoma multiforme(144;0.000306)|BRCA - Breast invasive adenocarcinoma(63;0.125) TTCGAATAACGTTTGATAGTT 0.333000 25 80 0 0 1 0 0 CHEK2 11200 broad.mit.edu 37 22 29091840 29091840 + Missense_Mutation SNP T T C rs142470496 byFrequency TCGA-QH-A65X-01A-11D-A32B-08 TCGA-QH-A65X-10D-01D-A329-08 Untested Somatic Phase_I WXS none Illumina GAIIx 32544a75-ede9-469c-a607-f954f919b504 f07e106d-56c9-4bc8-8ab6-10829e09a840 g.chr22:29091840T>C ENST00000544772.1 - 12 1890 c.454A>G c.(454-456)Aag>Gag p.K152E CHEK2_ENST00000328354.6_Missense_Mutation_p.K373E|CHEK2_ENST00000382566.1_3'UTR|CHEK2_ENST00000405598.1_Missense_Mutation_p.K373E|CHEK2_ENST00000404276.1_Missense_Mutation_p.K373E|CHEK2_ENST00000403642.1_Missense_Mutation_p.K282E|CHEK2_ENST00000402731.1_Missense_Mutation_p.K344E|CHEK2_ENST00000382578.1_Missense_Mutation_p.K282E|CHEK2_ENST00000382580.2_Missense_Mutation_p.K416E|CHEK2_ENST00000348295.3_Missense_Mutation_p.K344E|CHEK2_ENST00000382565.1_Intron 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 5 54 0 0 1 0 0 VSIG1 340547 broad.mit.edu 37 X 107288369 107288369 + Silent SNP C C T TCGA-QH-A65X-01A-11D-A32B-08 TCGA-QH-A65X-10D-01D-A329-08 Untested Somatic Phase_I WXS none Illumina GAIIx 32544a75-ede9-469c-a607-f954f919b504 f07e106d-56c9-4bc8-8ab6-10829e09a840 g.chrX:107288369C>T ENST00000415430.3 + 1 170 c.9C>T c.(7-9)ttC>ttT p.F3F VSIG1_ENST00000217957.5_Silent_p.F3F NM_001170553.1 NP_001164024.1 Q86XK7 VSIG1_HUMAN V-set and immunoglobulin domain containing 1 3 integral to membrane breast(1)|endometrium(3)|kidney(1)|large_intestine(4)|lung(6)|ovary(1)|upper_aerodigestive_tract(1) 17 CAATGGTGTTCGCATTTTGGA 0.448000 3 13 0 0 1 0 0 MED12L 116931 broad.mit.edu 37 3 151129236 151129236 + Silent SNP G G A TCGA-QH-A65X-01A-11D-A32B-08 TCGA-QH-A65X-10D-01D-A329-08 Untested Somatic Phase_I WXS none Illumina GAIIx 32544a75-ede9-469c-a607-f954f919b504 f07e106d-56c9-4bc8-8ab6-10829e09a840 g.chr3:151129236G>A ENST00000474524.1 + 39 6014 c.5976G>A c.(5974-5976)ccG>ccA p.P1992P MED12L_ENST00000273432.4_Intron NM_053002.4 NP_443728.3 Q86YW9 MD12L_HUMAN mediator complex subunit 12-like 1992 Gln-rich. regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent mediator complex NS(1)|breast(3)|central_nervous_system(3)|cervix(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|kidney(9)|large_intestine(27)|lung(50)|ovary(6)|prostate(3)|skin(4)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(1) 128 LUSC - Lung squamous cell carcinoma(72;0.0394)|Lung(72;0.0517) AGCAGCAGCCGAGTGGCTATG 0.542000 29 54 0 0 1 0 0 CIC 23152 broad.mit.edu 37 19 42799051 42799051 + Missense_Mutation SNP G G A TCGA-QH-A65X-01A-11D-A32B-08 TCGA-QH-A65X-10D-01D-A329-08 Untested Somatic Phase_I WXS none Illumina GAIIx 32544a75-ede9-469c-a607-f954f919b504 f07e106d-56c9-4bc8-8ab6-10829e09a840 g.chr19:42799051G>A ENST00000572681.2 + 21 7321 c.7253G>A c.(7252-7254)cGt>cAt p.R2418H CIC_ENST00000160740.3_Missense_Mutation_p.R1510H|CIC_ENST00000575354.2_Missense_Mutation_p.R1512H Q96RK0 CIC_HUMAN capicua transcriptional repressor 1512 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|protein binding autonomic_ganglia(1)|breast(5)|central_nervous_system(32)|endometrium(10)|kidney(2)|large_intestine(7)|lung(9)|ovary(7)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2) 82 Prostate(69;0.00682) TTGAAGATCCGTGAGGTGCGC 0.627000 """Mis, F, S""" oligodendroglioma 32 11 0 0 1 0 0 RP11-24M17.5 0 broad.mit.edu 37 15 76074470 76074470 + RNA SNP A A G TCGA-QH-A65X-01A-11D-A32B-08 TCGA-QH-A65X-10D-01D-A329-08 Untested Somatic Phase_I WXS none Illumina GAIIx 32544a75-ede9-469c-a607-f954f919b504 f07e106d-56c9-4bc8-8ab6-10829e09a840 g.chr15:76074470A>G ENST00000395215.3 + 0 649 p.Q203R(4) CGGTTACAGCAGACCATAAAG 0.577000 9 29 0 0 1 0 0 DNMT3A 1788 broad.mit.edu 37 2 25497832 25497832 + Nonsense_Mutation SNP C C T TCGA-QH-A65X-01A-11D-A32B-08 TCGA-QH-A65X-10D-01D-A329-08 Untested Somatic Phase_I WXS none Illumina GAIIx 32544a75-ede9-469c-a607-f954f919b504 f07e106d-56c9-4bc8-8ab6-10829e09a840 g.chr2:25497832C>T ENST00000264709.3 - 6 954 c.617G>A c.(616-618)tGg>tAg p.W206* DNMT3A_ENST00000321117.5_Nonsense_Mutation_p.W206* NM_175629.2 NP_783328.1 Q9Y6K1 DNM3A_HUMAN DNA (cytosine-5-)-methyltransferase 3 alpha 206 Interaction with DNMT1 and DNMT3B. regulation of gene expression by genetic imprinting cytoplasm|euchromatin|nuclear matrix DNA (cytosine-5-)-methyltransferase activity|DNA binding|metal ion binding|protein binding breast(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(964)|kidney(3)|large_intestine(10)|lung(29)|ovary(3)|prostate(3)|skin(2)|upper_aerodigestive_tract(2) 1021 Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215) GCGTGCCAGCCACTCGTCCCG 0.657000 """Mis, F, N, S""" AML 16 13 0 0 1 0 0 SERPINB3 6317 broad.mit.edu 37 18 61323094 61323094 + Missense_Mutation SNP C C T TCGA-QH-A65X-01A-11D-A32B-08 TCGA-QH-A65X-10D-01D-A329-08 Untested Somatic Phase_I WXS none Illumina GAIIx 32544a75-ede9-469c-a607-f954f919b504 f07e106d-56c9-4bc8-8ab6-10829e09a840 g.chr18:61323094C>T ENST00000283752.5 - 8 1113 c.970G>A c.(970-972)Gtg>Atg p.V324M SERPINB11_ENST00000489748.1_RNA|SERPINB3_ENST00000332821.8_Missense_Mutation_p.V272M NM_006919.2 NP_008850.1 P29508 SPB3_HUMAN serpin peptidase inhibitor, clade B (ovalbumin), member 3 324 regulation of proteolysis cytoplasm|extracellular region protein binding|serine-type endopeptidase inhibitor activity breast(2)|central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(4)|lung(14)|ovary(1)|skin(5)|upper_aerodigestive_tract(2) 36 CCAGATAGCACGAGACCGCGG 0.547000 33 35 0 0 1 0 0 AC008103.5 0 broad.mit.edu 37 22 18844766 18844766 + RNA SNP G G A TCGA-QH-A65X-01A-11D-A32B-08 TCGA-QH-A65X-10D-01D-A329-08 Untested Somatic Phase_I WXS none Illumina GAIIx 32544a75-ede9-469c-a607-f954f919b504 f07e106d-56c9-4bc8-8ab6-10829e09a840 g.chr22:18844766G>A ENST00000412938.1 + 0 3016 CAGCCTCTGAGGGCAGCAGTG 0.557000 3 10 0 0 1 0 0 POM121L9P 0 broad.mit.edu 37 22 24659734 24659734 + RNA SNP T T C TCGA-QH-A65X-01A-11D-A32B-08 TCGA-QH-A65X-10D-01D-A329-08 Untested Somatic Phase_I WXS none Illumina GAIIx 32544a75-ede9-469c-a607-f954f919b504 f07e106d-56c9-4bc8-8ab6-10829e09a840 g.chr22:24659734T>C ENST00000414583.2 + 0 3259 NR_003714.1 CTCTCTCCTGTGGGAGGGGGG 0.632000 3 11 0 0 1 0 0 CXCR1 3577 broad.mit.edu 37 2 219029665 219029665 + Silent SNP C C T TCGA-QH-A65X-01A-11D-A32B-08 TCGA-QH-A65X-10D-01D-A329-08 Untested Somatic Phase_I WXS none Illumina GAIIx 32544a75-ede9-469c-a607-f954f919b504 f07e106d-56c9-4bc8-8ab6-10829e09a840 g.chr2:219029665C>T ENST00000295683.2 - 2 390 c.270G>A c.(268-270)ctG>ctA p.L90L NM_000634.2 NP_000625.1 P25024 CXCR1_HUMAN chemokine (C-X-C motif) receptor 1 90 dendritic cell chemotaxis|inflammatory response integral to membrane|plasma membrane interleukin-8 receptor activity endometrium(1)|large_intestine(2)|lung(7)|prostate(3) 13 TGGGCAAGGTCAGGGCAAAGA 0.557000 4 73 0 0 1 0 0 AC008103.5 0 broad.mit.edu 37 22 18846121 18846121 + RNA SNP C C T rs4302302 TCGA-QH-A65X-01A-11D-A32B-08 TCGA-QH-A65X-10D-01D-A329-08 Untested Somatic Phase_I WXS none Illumina GAIIx 32544a75-ede9-469c-a607-f954f919b504 f07e106d-56c9-4bc8-8ab6-10829e09a840 g.chr22:18846121C>T ENST00000412938.1 + 0 3479 CACGCACTGGCGCACGATGTA 0.617000 6 21 0 0 1 0 0 AMY2B 280 broad.mit.edu 37 1 104120221 104120221 + Missense_Mutation SNP G G A TCGA-QH-A65X-01A-11D-A32B-08 TCGA-QH-A65X-10D-01D-A329-08 Untested Somatic Phase_I WXS none Illumina GAIIx 32544a75-ede9-469c-a607-f954f919b504 f07e106d-56c9-4bc8-8ab6-10829e09a840 g.chr1:104120221G>A ENST00000361355.4 + 10 1827 c.1211G>A c.(1210-1212)cGc>cAc p.R404H AMY2B_ENST00000491397.1_Intron NM_020978.3 NP_066188.1 P19961 AMY2B_HUMAN amylase, alpha 2B (pancreatic) 404 carbohydrate metabolic process|digestion extracellular region alpha-amylase activity|metal ion binding breast(1)|endometrium(7)|kidney(4)|large_intestine(1)|lung(30)|prostate(1)|skin(1)|urinary_tract(1) 46 all_epithelial(167;3.05e-05)|all_lung(203;0.000199)|Lung NSC(277;0.000451) Colorectal(144;0.0669)|all cancers(265;0.083)|Epithelial(280;0.094)|Lung(183;0.112) CATCGATGGCGCCAAATAAGG 0.343000 4 111 0 0 1 0 0 SFXN5 94097 broad.mit.edu 37 2 73188272 73188272 + Missense_Mutation SNP C C T TCGA-QH-A65X-01A-11D-A32B-08 TCGA-QH-A65X-10D-01D-A329-08 Untested Somatic Phase_I WXS none Illumina GAIIx 32544a75-ede9-469c-a607-f954f919b504 f07e106d-56c9-4bc8-8ab6-10829e09a840 g.chr2:73188272C>T ENST00000410065.1 - 11 749 c.731G>A c.(730-732)cGc>cAc p.R244H SFXN5_ENST00000272433.2_Silent_p.P311P|SFXN5_ENST00000474528.1_5'UTR Q8TD22 SFXN5_HUMAN sideroflexin 5 0 iron ion homeostasis integral to membrane cation transmembrane transporter activity breast(1)|cervix(1)|endometrium(1)|large_intestine(2)|lung(1)|ovary(2)|prostate(1) 9 CTGACATTTGCGGGAAGAGGC 0.637000 3 14 0 0 1 0 0 ARID1A 8289 broad.mit.edu 37 1 27057967 27057971 + Frame_Shift_Del DEL CCTTA CCTTA - TCGA-QH-A65X-01A-11D-A32B-08 TCGA-QH-A65X-10D-01D-A329-08 Untested Somatic Phase_I WXS none Illumina GAIIx 32544a75-ede9-469c-a607-f954f919b504 f07e106d-56c9-4bc8-8ab6-10829e09a840 g.chr1:27057967_27057971delCCTTA ENST00000324856.7 + 3 2046_2050 c.1675_1679delCCTTA c.(1675-1680)cfs p.PY559fs ARID1A_ENST00000457599.2_Frame_Shift_Del_p.PY559fs|ARID1A_ENST00000374152.2_Frame_Shift_Del_p.PY176fs NM_006015.4 NP_006006.3 O14497 ARI1A_HUMAN AT rich interactive domain 1A (SWI-like) 559 androgen receptor signaling pathway|chromatin-mediated maintenance of transcription|estrogen receptor signaling pathway|glucocorticoid receptor signaling pathway|nervous system development|nucleosome mobilization|transcription, DNA-dependent nBAF complex|npBAF complex|SWI/SNF complex DNA binding|protein binding ARID1A/MAST2_ENST00000361297(2) NS(1)|autonomic_ganglia(1)|biliary_tract(1)|breast(13)|central_nervous_system(6)|cervix(2)|endometrium(56)|haematopoietic_and_lymphoid_tissue(8)|kidney(10)|large_intestine(41)|liver(31)|lung(34)|ovary(130)|pancreas(18)|prostate(8)|skin(9)|stomach(14)|upper_aerodigestive_tract(4)|urinary_tract(24) 411 all_cancers(24;6.36e-27)|all_epithelial(13;5.93e-24)|Colorectal(325;3.46e-05)|all_lung(284;4.76e-05)|Lung NSC(340;5.83e-05)|Breast(348;9.7e-05)|Renal(390;0.0007)|Ovarian(437;0.00473)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0381) UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|all cancers(4;2.61e-56)|Epithelial(14;7.53e-55)|OV - Ovarian serous cystadenocarcinoma(117;4.5e-30)|Colorectal(126;2.07e-09)|COAD - Colon adenocarcinoma(152;4.29e-07)|BRCA - Breast invasive adenocarcinoma(304;4.13e-05)|STAD - Stomach adenocarcinoma(196;0.000279)|KIRC - Kidney renal clear cell carcinoma(1967;0.000794)|GBM - Glioblastoma multiforme(114;0.0132)|READ - Rectum adenocarcinoma(331;0.0469)|Lung(427;0.167)|LUSC - Lung squamous cell carcinoma(448;0.242) GGCTCAGTCTCCTTACCAGCAGCAG 0.634 """Mis, N, F, S, D""" """clear cell ovarian carcinoma, RCC""" 95 51 --- --- --- --- RTN4 57142 broad.mit.edu 37 2 55253414 55253416 + In_Frame_Del DEL AGG AGG - TCGA-QH-A65X-01A-11D-A32B-08 TCGA-QH-A65X-10D-01D-A329-08 Untested Somatic Phase_I WXS none Illumina GAIIx 32544a75-ede9-469c-a607-f954f919b504 f07e106d-56c9-4bc8-8ab6-10829e09a840 g.chr2:55253414_55253416delAGG ENST00000337526.6 - 3 2062_2064 c.1819_1821delCCT c.(1819-1821)del p.P607del RTN4_ENST00000404909.1_In_Frame_Del_p.P401del|RTN4_ENST00000394611.2_In_Frame_Del_p.P401del|RTN4_ENST00000357376.3_In_Frame_Del_p.P401del|RTN4_ENST00000354474.6_In_Frame_Del_p.P375del|RTN4_ENST00000405240.1_In_Frame_Del_p.P401del|RTN4_ENST00000402434.2_Intron|RTN4_ENST00000317610.7_Intron|RTN4_ENST00000357732.4_Intron NM_020532.4 NP_065393.1 Q9NQC3 RTN4_HUMAN reticulon 4 607 apoptosis|axonal fasciculation|cerebral cortex radial glia guided migration|endoplasmic reticulum tubular network organization|negative regulation of anti-apoptosis|negative regulation of axon extension|nerve growth factor receptor signaling pathway|regulation of apoptosis|regulation of branching morphogenesis of a nerve|regulation of cell migration integral to endoplasmic reticulum membrane|nuclear envelope|plasma membrane protein binding NS(2)|breast(4)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(11)|lung(9)|ovary(2)|prostate(1)|skin(1)|stomach(1) 36 AAACTGGTGAAGGAGTAGCTTCT 0.443 33 45 --- --- --- --- AC007255.7 0 broad.mit.edu 37 7 29720482 29720483 + RNA INS - - G rs70980562 TCGA-QH-A65X-01A-11D-A32B-08 TCGA-QH-A65X-10D-01D-A329-08 Untested Somatic Phase_I WXS none Illumina GAIIx 32544a75-ede9-469c-a607-f954f919b504 f07e106d-56c9-4bc8-8ab6-10829e09a840 g.chr7:29720482_29720483insG ENST00000426767.1 - 0 366 NR_024278.1 CTCTCAGATCAGTGATGCCCTG 0.485 5 10 --- --- --- --- NUDT18 79873 broad.mit.edu 37 8 21965771 21965771 + Frame_Shift_Del DEL G G - TCGA-QH-A65X-01A-11D-A32B-08 TCGA-QH-A65X-10D-01D-A329-08 Untested Somatic Phase_I WXS none Illumina GAIIx 32544a75-ede9-469c-a607-f954f919b504 f07e106d-56c9-4bc8-8ab6-10829e09a840 g.chr8:21965771delG ENST00000309188.6 - 4 367 c.249delC c.(247-249)acfs p.T83fs NUDT18_ENST00000521807.2_3'UTR|NUDT18_ENST00000522405.1_Frame_Shift_Del_p.T6fs NM_024815.3 NP_079091.3 Q6ZVK8 NUD18_HUMAN nudix (nucleoside diphosphate linked moiety X)-type motif 18 83 Nudix hydrolase. hydrolase activity|metal ion binding|protein binding breast(1)|central_nervous_system(1)|lung(2) 4 Colorectal(74;0.00185)|COAD - Colon adenocarcinoma(73;0.0608)|READ - Rectum adenocarcinoma(5;0.0986) CCTCCACGATGGTCTCCCCTG 0.677 2 4 --- --- --- --- PTPRD 5789 broad.mit.edu 37 9 8518239 8518242 + Frame_Shift_Del DEL ACTT ACTT - TCGA-QH-A65X-01A-11D-A32B-08 TCGA-QH-A65X-10D-01D-A329-08 Untested Somatic Phase_I WXS none Illumina GAIIx 32544a75-ede9-469c-a607-f954f919b504 f07e106d-56c9-4bc8-8ab6-10829e09a840 g.chr9:8518239_8518242delACTT ENST00000381196.4 - 18 1692_1695 c.1149_1152delAAGT c.(1147-1152)ctfs p.LS383fs PTPRD_ENST00000486161.1_Frame_Shift_Del_p.LS383fs|PTPRD_ENST00000356435.5_Frame_Shift_Del_p.LS383fs|PTPRD_ENST00000355233.5_Frame_Shift_Del_p.LS383fs|PTPRD_ENST00000397606.3_Frame_Shift_Del_p.LS373fs|PTPRD_ENST00000397611.3_Frame_Shift_Del_p.LS380fs|PTPRD_ENST00000397617.3_Frame_Shift_Del_p.LS373fs|PTPRD_ENST00000540109.1_Frame_Shift_Del_p.LS383fs|PTPRD_ENST00000360074.4_Frame_Shift_Del_p.LS370fs|PTPRD_ENST00000537002.1_Frame_Shift_Del_p.LS380fs|PTPRD_ENST00000358503.5_Frame_Shift_Del_p.LS370fs NM_002839.3 NP_002830.1 P23468 PTPRD_HUMAN protein tyrosine phosphatase, receptor type, D 383 Fibronectin type-III 1. transmembrane receptor protein tyrosine phosphatase signaling pathway integral to plasma membrane protein binding|transmembrane receptor protein tyrosine phosphatase activity NS(1)|breast(7)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(22)|liver(1)|lung(83)|ovary(4)|pancreas(1)|prostate(7)|skin(19)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(1) 168 all_cancers(3;3.38e-95)|all_epithelial(3;2.84e-91)|all_lung(3;7.3e-56)|Lung NSC(3;1.82e-52)|Renal(3;3.42e-19)|all_hematologic(3;0.000134)|all_neural(3;0.00409)|Acute lymphoblastic leukemia(23;0.0069)|Melanoma(3;0.0121)|Myeloproliferative disorder(4;0.0122)|Medulloblastoma(3;0.0144)|Lung SC(3;0.0301)|Ovarian(56;0.0694)|Hepatocellular(3;0.0824) all cancers(1;3.38e-12)|Epithelial(1;2.12e-09)|STAD - Stomach adenocarcinoma(1;1.29e-07)|KIRC - Kidney renal clear cell carcinoma(3;5.49e-07)|Kidney(3;6.36e-07)|GBM - Glioblastoma multiforme(50;9.05e-05)|Lung(1;0.000189)|BRCA - Breast invasive adenocarcinoma(1;0.00178)|LUSC - Lung squamous cell carcinoma(1;0.0115)|LUAD - Lung adenocarcinoma(58;0.119) CCGAGTAGGGACTTAGTCCAGCGA 0.461 TSP Lung(15;0.13) 68 95 --- --- --- --- ENTPD1 953 broad.mit.edu 37 10 97605324 97605325 + Frame_Shift_Del DEL CT CT - rs140773352 TCGA-QH-A65X-01A-11D-A32B-08 TCGA-QH-A65X-10D-01D-A329-08 Untested Somatic Phase_I WXS none Illumina GAIIx 32544a75-ede9-469c-a607-f954f919b504 f07e106d-56c9-4bc8-8ab6-10829e09a840 g.chr10:97605324_97605325delCT ENST00000371203.5 + 5 957_958 c.370_371delCT c.(370-372)cfs p.L124fs ENTPD1_ENST00000453258.2_Frame_Shift_Del_p.L269fs|ENTPD1_ENST00000543964.1_Frame_Shift_Del_p.L154fs|ENTPD1_ENST00000539125.1_Frame_Shift_Del_p.L124fs|ENTPD1-AS1_ENST00000416301.1_RNA|RP11-429G19.3_ENST00000433113.1_RNA|ENTPD1_ENST00000371205.4_Frame_Shift_Del_p.L262fs|ENTPD1_ENST00000371207.3_Frame_Shift_Del_p.L274fs NM_001164179.1|NM_001164182.1|NM_001776.5 NP_001157651.1|NP_001157654.1|NP_001767.3 P49961 ENTP1_HUMAN ectonucleoside triphosphate diphosphohydrolase 1 262 cell adhesion integral to plasma membrane ATP binding cervix(1)|kidney(1)|large_intestine(3)|lung(6)|ovary(3)|prostate(1)|skin(1) 16 Colorectal(252;0.0821) Epithelial(162;1.31e-07)|all cancers(201;5.33e-06) GGATCAGGCACTCTGGCAGAAA 0.500 18 58 --- --- --- --- PACS2 23241 broad.mit.edu 37 14 105818792 105818794 + In_Frame_Del DEL CTT CTT - TCGA-QH-A65X-01A-11D-A32B-08 TCGA-QH-A65X-10D-01D-A329-08 Untested Somatic Phase_I WXS none Illumina GAIIx 32544a75-ede9-469c-a607-f954f919b504 f07e106d-56c9-4bc8-8ab6-10829e09a840 g.chr14:105818792_105818794delCTT ENST00000447393.1 + 3 460_462 c.285_287delCTT c.(283-288)acc>ac p.TF95del PACS2_ENST00000547217.1_Intron|PACS2_ENST00000430725.2_In_Frame_Del_p.TF28del|PACS2_ENST00000458164.2_In_Frame_Del_p.TF95del|PACS2_ENST00000325438.8_In_Frame_Del_p.TF95del NM_015197.3 NP_056012.2 Q86VP3 PACS2_HUMAN phosphofurin acidic cluster sorting protein 2 95 apoptosis|interspecies interaction between organisms endoplasmic reticulum lumen|mitochondrion endometrium(2)|kidney(2)|lung(7)|ovary(3)|pancreas(1)|prostate(2)|skin(3)|urinary_tract(1) 21 all_cancers(154;0.0351)|all_epithelial(191;0.153)|Melanoma(154;0.155) OV - Ovarian serous cystadenocarcinoma(23;0.0145)|Epithelial(46;0.036) Epithelial(152;0.138) TGGCCCTGACCTTCTCCTTGCAG 0.606 OREG0022968 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 53 70 --- --- --- --- TMEM121 80757 broad.mit.edu 37 14 105996050 105996052 + In_Frame_Del DEL GCC GCC - rs5811180 TCGA-QH-A65X-01A-11D-A32B-08 TCGA-QH-A65X-10D-01D-A329-08 Untested Somatic Phase_I WXS none Illumina GAIIx 32544a75-ede9-469c-a607-f954f919b504 f07e106d-56c9-4bc8-8ab6-10829e09a840 g.chr14:105996050_105996052delGCC ENST00000392519.2 + 2 1043_1045 c.879_881delGCC c.(877-882)gtg>gt p.VP293del TMEM121_ENST00000431372.1_In_Frame_Del_p.VP293del NM_025268.2 NP_079544.1 Q9BTD3 TM121_HUMAN transmembrane protein 121 293 Pro-rich. integral to membrane endometrium(2)|lung(1) 3 Melanoma(154;0.226) OV - Ovarian serous cystadenocarcinoma(23;0.00596)|Epithelial(46;0.0188) Epithelial(152;0.0959)|all cancers(159;0.235) GCAACTCGGTgccgccgccgccg 0.768 3 4 --- --- --- ---