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 BTN2A3P 54718 broad.mit.edu 37 6 26422353 26422353 + RNA SNP C C T rs141013110 TCGA-FD-A43N-01A-11D-A23U-08 TCGA-FD-A43N-10A-01D-A23U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7ad967f2-cade-41e1-9aaf-b651ebafb8ef 38660148-12e6-4dae-9041-075ca6892d9b g.chr6:26422353C>T ENST00000466808.2 + 0 7 p.P3S(2) GCTCATGGAACCAGCTGCTGC 0.622000 8 126 0 0 1 0 0 LAMC3 10319 broad.mit.edu 37 9 133946902 133946902 + Missense_Mutation SNP C C T rs149131135 byFrequency TCGA-FD-A43N-01A-11D-A23U-08 TCGA-FD-A43N-10A-01D-A23U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7ad967f2-cade-41e1-9aaf-b651ebafb8ef 38660148-12e6-4dae-9041-075ca6892d9b g.chr9:133946902C>T ENST00000361069.4 + 18 3234 c.3101C>T c.(3100-3102)aCg>aTg p.T1034M LAMC3_ENST00000480883.1_Intron NM_006059.3 NP_006050.3 Q9Y6N6 LAMC3_HUMAN laminin, gamma 3 1034 Domain II and I. cell adhesion basement membrane|membrane structural molecule activity endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(12)|lung(31)|ovary(3)|pancreas(1)|prostate(3)|upper_aerodigestive_tract(2)|urinary_tract(3) 69 all_hematologic(7;0.0028) Myeloproliferative disorder(178;0.204) OV - Ovarian serous cystadenocarcinoma(145;5.06e-05)|Epithelial(140;0.000551) CTGACTTTGACGGAGGGGTGG 0.622000 29 90 0 0 1 0 0 RYR3 6263 broad.mit.edu 37 15 33955863 33955863 + Silent SNP C C T TCGA-FD-A43N-01A-11D-A23U-08 TCGA-FD-A43N-10A-01D-A23U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7ad967f2-cade-41e1-9aaf-b651ebafb8ef 38660148-12e6-4dae-9041-075ca6892d9b g.chr15:33955863C>T ENST00000389232.4 + 36 5614 c.5544C>T c.(5542-5544)ctC>ctT p.L1848L RYR3_ENST00000415757.3_Silent_p.L1848L NM_001036.3 NP_001027.3 Q15413 RYR3_HUMAN ryanodine receptor 3 1848 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) ACAATGAGCTCATGCAGGCCC 0.577000 14 14 0 0 1 0 0 HIST1H1E 3008 broad.mit.edu 37 6 26156926 26156926 + Missense_Mutation SNP G G C TCGA-FD-A43N-01A-11D-A23U-08 TCGA-FD-A43N-10A-01D-A23U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7ad967f2-cade-41e1-9aaf-b651ebafb8ef 38660148-12e6-4dae-9041-075ca6892d9b g.chr6:26156926G>C ENST00000304218.3 + 1 368 c.308G>C c.(307-309)gGt>gCt p.G103A NM_005321.2 NP_005312.1 P10412 H14_HUMAN histone cluster 1, H1e 103 H15. nucleosome assembly nucleosome|nucleus DNA binding|protein binding NS(2)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(1)|liver(1)|lung(9)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(2) 26 GGCGCGTCGGGTTCCTTCAAA 0.612000 16 147 0 0 1 0 0 PTGES3 10728 broad.mit.edu 37 12 57065601 57065601 + Missense_Mutation SNP T T C TCGA-FD-A43N-01A-11D-A23U-08 TCGA-FD-A43N-10A-01D-A23U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7ad967f2-cade-41e1-9aaf-b651ebafb8ef 38660148-12e6-4dae-9041-075ca6892d9b g.chr12:57065601T>C ENST00000262033.6 - 4 517 c.217A>G c.(217-219)Att>Gtt p.I73V PTGES3_ENST00000448157.2_Missense_Mutation_p.I73V|PTGES3_ENST00000436399.2_Intron|PTGES3_ENST00000456859.2_Intron|PTGES3_ENST00000414274.3_Missense_Mutation_p.I73V|PTGES3_ENST00000537473.1_5'UTR NM_006601.5 NP_006592.3 Q15185 TEBP_HUMAN prostaglandin E synthase 3 (cytosolic) 73 CS. chaperone cofactor-dependent protein refolding|hormone biosynthetic process|prostaglandin biosynthetic process|signal transduction|telomere maintenance cytosol|telomerase holoenzyme complex prostaglandin-E synthase activity|telomerase activity|unfolded protein binding large_intestine(1)|lung(1) 2 CAACATAAAATTGATCTGTCC 0.353000 27 69 0 0 1 0 0 ZNF385D 79750 broad.mit.edu 37 3 21606127 21606127 + Missense_Mutation SNP A A G TCGA-FD-A43N-01A-11D-A23U-08 TCGA-FD-A43N-10A-01D-A23U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7ad967f2-cade-41e1-9aaf-b651ebafb8ef 38660148-12e6-4dae-9041-075ca6892d9b g.chr3:21606127A>G ENST00000281523.2 - 3 733 c.215T>C c.(214-216)cTt>cCt p.L72P ZNF385D_ENST00000494118.1_5'UTR|ZNF385D-AS1_ENST00000412369.1_RNA NM_024697.2 NP_078973.1 Q9H6B1 Z385D_HUMAN zinc finger protein 385D 72 nucleus nucleic acid binding|zinc ion binding NS(2)|breast(2)|endometrium(3)|kidney(2)|large_intestine(13)|lung(18)|ovary(1)|prostate(1)|skin(4) 46 TCGGTGGGGAAGAGGAACCCC 0.328000 22 155 0 0 1 0 0 CSHL1 1444 broad.mit.edu 37 17 61988190 61988190 + Silent SNP A A G TCGA-FD-A43N-01A-11D-A23U-08 TCGA-FD-A43N-10A-01D-A23U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7ad967f2-cade-41e1-9aaf-b651ebafb8ef 38660148-12e6-4dae-9041-075ca6892d9b g.chr17:61988190A>G ENST00000392824.4 - 2 166 c.105T>C c.(103-105)ctT>ctC p.L35L CSHL1_ENST00000558099.1_5'UTR|CSHL1_ENST00000450719.3_Intron|CSHL1_ENST00000259003.10_Intron|CSHL1_ENST00000438387.2_Intron|CSHL1_ENST00000309894.5_Silent_p.L35L|CSHL1_ENST00000346606.6_Intron|CSHL1_ENST00000561003.1_Intron Q14406 CSHL_HUMAN chorionic somatomammotropin hormone-like 1 35 extracellular region hormone activity|metal ion binding endometrium(3)|lung(6) 9 CCTCTTTAAAAAGCCTGGATA 0.597000 18 166 0 0 1 0 0 IRAK4 51135 broad.mit.edu 37 12 44171530 44171530 + Missense_Mutation SNP G G C TCGA-FD-A43N-01A-11D-A23U-08 TCGA-FD-A43N-10A-01D-A23U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7ad967f2-cade-41e1-9aaf-b651ebafb8ef 38660148-12e6-4dae-9041-075ca6892d9b g.chr12:44171530G>C ENST00000431837.1 + 6 750 c.442G>C c.(442-444)Gac>Cac p.D148H IRAK4_ENST00000448290.2_Missense_Mutation_p.D272H|IRAK4_ENST00000551736.1_Missense_Mutation_p.D272H|IRAK4_ENST00000440781.2_Missense_Mutation_p.D148H NM_001145256.1|NM_001145257.1 NP_001138728.1|NP_001138729.1 Q9NWZ3 IRAK4_HUMAN interleukin-1 receptor-associated kinase 4 272 innate immune response|MyD88-dependent toll-like receptor signaling pathway|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 4 signaling pathway cytosol|endosome membrane|plasma membrane ATP binding|magnesium ion binding|protein serine/threonine kinase activity all_cancers(12;0.00149) Lung NSC(34;0.0804)|all_lung(34;0.181) GBM - Glioblastoma multiforme(48;0.04) TTCATTGCTAGACAGACTCTC 0.338000 10 126 0 0 1 0 0 NRSN2 80023 broad.mit.edu 37 20 334238 334238 + Nonsense_Mutation SNP C C T TCGA-FD-A43N-01A-11D-A23U-08 TCGA-FD-A43N-10A-01D-A23U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7ad967f2-cade-41e1-9aaf-b651ebafb8ef 38660148-12e6-4dae-9041-075ca6892d9b g.chr20:334238C>T ENST00000382291.3 + 4 814 c.574C>T c.(574-576)Caa>Taa p.Q192* NRSN2_ENST00000492242.1_3'UTR|NRSN2_ENST00000608736.1_Intron|NRSN2_ENST00000382285.2_Nonsense_Mutation_p.Q192* NM_024958.2 NP_079234.1 Q9GZP1 NRSN2_HUMAN neurensin 2 192 integral to membrane|plasma membrane|transport vesicle endometrium(1)|large_intestine(2)|lung(4)|urinary_tract(1) 8 all_cancers(10;0.0834) CCCCTTTGGGCAATCTTCTGT 0.592000 15 224 0 0 1 0 0 TRIM60 166655 broad.mit.edu 37 4 165961555 165961555 + Missense_Mutation SNP G G A TCGA-FD-A43N-01A-11D-A23U-08 TCGA-FD-A43N-10A-01D-A23U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7ad967f2-cade-41e1-9aaf-b651ebafb8ef 38660148-12e6-4dae-9041-075ca6892d9b g.chr4:165961555G>A ENST00000512596.1 + 3 547 c.331G>A c.(331-333)Gat>Aat p.D111N TRIM60_ENST00000341062.5_Missense_Mutation_p.D111N|TRIM60_ENST00000508504.1_Missense_Mutation_p.D111N NM_152620.2 NP_689833.1 Q495X7 TRI60_HUMAN tripartite motif containing 60 111 intracellular zinc ion binding NS(1)|breast(2)|endometrium(3)|large_intestine(6)|lung(15)|skin(1)|upper_aerodigestive_tract(1) 29 all_hematologic(180;0.221) Prostate(90;0.0959)|Melanoma(52;0.18) GBM - Glioblastoma multiforme(119;0.0844) CTGTGTTAAAGATCTAGAGAT 0.408000 11 71 0 0 1 0 0 ATG2A 23130 broad.mit.edu 37 11 64678575 64678575 + Silent SNP G G A TCGA-FD-A43N-01A-11D-A23U-08 TCGA-FD-A43N-10A-01D-A23U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7ad967f2-cade-41e1-9aaf-b651ebafb8ef 38660148-12e6-4dae-9041-075ca6892d9b g.chr11:64678575G>A ENST00000421419.2 - 10 1515 c.1401C>T c.(1399-1401)ttC>ttT p.F467F ATG2A_ENST00000377264.3_Silent_p.F467F Q2TAZ0 ATG2A_HUMAN autophagy related 2A 467 protein binding breast(3)|central_nervous_system(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|lung(19)|ovary(3)|prostate(5)|skin(1)|stomach(1)|urinary_tract(3) 55 CTCGGGAACCGAAGGGCCCAT 0.597000 37 69 0 0 1 0 0 LARS 51520 broad.mit.edu 37 5 145522979 145522979 + Missense_Mutation SNP T T A TCGA-FD-A43N-01A-11D-A23U-08 TCGA-FD-A43N-10A-01D-A23U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7ad967f2-cade-41e1-9aaf-b651ebafb8ef 38660148-12e6-4dae-9041-075ca6892d9b g.chr5:145522979T>A ENST00000394434.2 - 19 2039 c.1873A>T c.(1873-1875)Att>Ttt p.I625F LARS_ENST00000274562.9_Missense_Mutation_p.I598F|LARS_ENST00000545646.1_Missense_Mutation_p.I579F|LARS_ENST00000510191.1_Missense_Mutation_p.I571F NM_020117.9 NP_064502.9 Q9P2J5 SYLC_HUMAN leucyl-tRNA synthetase 625 leucyl-tRNA aminoacylation cytosol ATP binding|leucine-tRNA ligase activity|protein binding breast(2)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(6)|lung(10)|prostate(1)|skin(2)|stomach(8) 34 KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101) L-Leucine(DB00149) ACCAACCTAATGCCCAGCGGA 0.373000 100 260 0 0 1 0 0 SLC28A1 9154 broad.mit.edu 37 15 85452024 85452024 + Missense_Mutation SNP C C G TCGA-FD-A43N-01A-11D-A23U-08 TCGA-FD-A43N-10A-01D-A23U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7ad967f2-cade-41e1-9aaf-b651ebafb8ef 38660148-12e6-4dae-9041-075ca6892d9b g.chr15:85452024C>G ENST00000394573.1 + 9 995 c.793C>G c.(793-795)Cag>Gag p.Q265E SLC28A1_ENST00000537624.1_Missense_Mutation_p.Q265E|SLC28A1_ENST00000286749.3_Missense_Mutation_p.Q265E|SLC28A1_ENST00000538177.1_Missense_Mutation_p.Q265E|SLC28A1_ENST00000537216.1_Missense_Mutation_p.Q265E|SLC28A1_ENST00000537703.1_Missense_Mutation_p.Q187E NM_004213.3 NP_004204.3 O00337 S28A1_HUMAN solute carrier family 28 (concentrative nucleoside transporter), member 1 265 nucleobase, nucleoside and nucleotide metabolic process integral to plasma membrane|membrane fraction nucleoside binding breast(2)|endometrium(4)|kidney(2)|large_intestine(4)|lung(17)|ovary(1)|prostate(4)|skin(3)|stomach(3)|upper_aerodigestive_tract(1) 41 BRCA - Breast invasive adenocarcinoma(143;0.0587) CTTTGCCTTTCAGGTCAGCTT 0.577000 18 47 0 0 1 0 0 GOLGA4 2803 broad.mit.edu 37 3 37365709 37365709 + Missense_Mutation SNP C C A TCGA-FD-A43N-01A-11D-A23U-08 TCGA-FD-A43N-10A-01D-A23U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7ad967f2-cade-41e1-9aaf-b651ebafb8ef 38660148-12e6-4dae-9041-075ca6892d9b g.chr3:37365709C>A ENST00000361924.2 + 14 2706 c.2332C>A c.(2332-2334)Cat>Aat p.H778N GOLGA4_ENST00000356847.4_Missense_Mutation_p.H800N|GOLGA4_ENST00000444882.1_Intron NM_002078.4 NP_002069.2 Q13439 GOGA4_HUMAN golgin A4 778 Glu-rich. Golgi to plasma membrane protein transport Golgi membrane|trans-Golgi network protein binding NS(2)|breast(3)|central_nervous_system(3)|endometrium(6)|kidney(2)|large_intestine(17)|liver(2)|lung(16)|ovary(4)|prostate(2)|skin(4)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 65 GCATCAGGCTCATGTAGAAAA 0.423000 73 103 7.07328e-35 7.99189e-35 1 1 0 DDAH2 23564 broad.mit.edu 37 6 31695394 31695394 + Missense_Mutation SNP G G A TCGA-FD-A43N-01A-11D-A23U-08 TCGA-FD-A43N-10A-01D-A23U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7ad967f2-cade-41e1-9aaf-b651ebafb8ef 38660148-12e6-4dae-9041-075ca6892d9b g.chr6:31695394G>A ENST00000375792.3 - 6 1297 c.667C>T c.(667-669)Ctt>Ttt p.L223F DDAH2_ENST00000375789.2_Missense_Mutation_p.L223F|DDAH2_ENST00000375787.2_Missense_Mutation_p.L223F|DDAH2_ENST00000480913.1_5'UTR O95865 DDAH2_HUMAN dimethylarginine dimethylaminohydrolase 2 223 anti-apoptosis|arginine catabolic process|citrulline metabolic process|nitric oxide biosynthetic process|nitric oxide mediated signal transduction cytoplasm dimethylargininase activity|protein binding endometrium(1)|large_intestine(3)|lung(5)|prostate(1)|upper_aerodigestive_tract(1) 11 L-Citrulline(DB00155) CCAGGACGAAGAAAGAGACAG 0.587000 141 234 0 0 1 0 0 SLC35F4 341880 broad.mit.edu 37 14 58030927 58030927 + Missense_Mutation SNP C C T TCGA-FD-A43N-01A-11D-A23U-08 TCGA-FD-A43N-10A-01D-A23U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7ad967f2-cade-41e1-9aaf-b651ebafb8ef 38660148-12e6-4dae-9041-075ca6892d9b g.chr14:58030927C>T ENST00000556826.1 - 8 1620 c.1384G>A c.(1384-1386)Gat>Aat p.D462N SLC35F4_ENST00000339762.6_Missense_Mutation_p.D498N|SLC35F4_ENST00000554729.1_Missense_Mutation_p.D339N NM_001206920.1 NP_001193849.1 solute carrier family 35, member F4 breast(1)|endometrium(4)|large_intestine(3)|lung(12)|ovary(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 24 TCAGTCACATCATCCACATGC 0.502000 9 39 0 0 1 0 0 SATB1 6304 broad.mit.edu 37 3 18393545 18393545 + Missense_Mutation SNP G G A TCGA-FD-A43N-01A-11D-A23U-08 TCGA-FD-A43N-10A-01D-A23U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7ad967f2-cade-41e1-9aaf-b651ebafb8ef 38660148-12e6-4dae-9041-075ca6892d9b g.chr3:18393545G>A ENST00000338745.6 - 10 3452 c.1718C>T c.(1717-1719)gCg>gTg p.A573V SATB1_ENST00000454909.2_Missense_Mutation_p.A573V|TBC1D5_ENST00000414318.2_Intron|SATB1_ENST00000417717.2_Missense_Mutation_p.A573V NM_002971.4 NP_002962.1 Q01826 SATB1_HUMAN SATB homeobox 1 573 cellular component disassembly involved in apoptosis|interspecies interaction between organisms|negative regulation of transcription from RNA polymerase II promoter nuclear matrix|PML body double-stranded DNA binding|sequence-specific DNA binding NS(2)|breast(2)|endometrium(6)|large_intestine(4)|lung(10)|ovary(1)|skin(5)|upper_aerodigestive_tract(2) 32 GTGATGCACCGCGTTGCTCTC 0.498000 28 235 0 0 1 0 0 SIGLEC11 114132 broad.mit.edu 37 19 50461568 50461568 + Missense_Mutation SNP C C G TCGA-FD-A43N-01A-11D-A23U-08 TCGA-FD-A43N-10A-01D-A23U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7ad967f2-cade-41e1-9aaf-b651ebafb8ef 38660148-12e6-4dae-9041-075ca6892d9b g.chr19:50461568C>G ENST00000447370.2 - 8 1713 c.1623G>C c.(1621-1623)caG>caC p.Q541H SIGLEC11_ENST00000426971.2_Intron|CTC-326K19.6_ENST00000451973.1_Missense_Mutation_p.Q27H NM_052884.2 NP_443116.2 Q96RL6 SIG11_HUMAN sialic acid binding Ig-like lectin 11 541 cell adhesion integral to membrane sugar binding breast(1)|central_nervous_system(2)|endometrium(2)|kidney(1)|large_intestine(8)|lung(9)|ovary(6)|pancreas(1)|prostate(1)|skin(1) 32 all_lung(116;0.00318)|all_neural(266;0.107)|Ovarian(192;0.17) GBM - Glioblastoma multiforme(134;0.00107)|OV - Ovarian serous cystadenocarcinoma(262;0.00517) CAGAGCCACTCTGGGCCCCGT 0.632000 28 57 0 0 1 0 0 KCNIP3 30818 broad.mit.edu 37 2 96040071 96040071 + Missense_Mutation SNP C C T TCGA-FD-A43N-01A-11D-A23U-08 TCGA-FD-A43N-10A-01D-A23U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7ad967f2-cade-41e1-9aaf-b651ebafb8ef 38660148-12e6-4dae-9041-075ca6892d9b g.chr2:96040071C>T ENST00000295225.5 + 3 344 c.209C>T c.(208-210)tCc>tTc p.S70F KCNIP3_ENST00000468529.1_Missense_Mutation_p.S44F|KCNIP3_ENST00000360990.3_Missense_Mutation_p.S70F|KCNIP3_ENST00000377181.2_3'UTR NM_013434.4 NP_038462.1 Q9Y2W7 CSEN_HUMAN Kv channel interacting protein 3, calsenilin 70 EF-hand 1; degenerate. apoptosis|signal transduction|transcription, DNA-dependent endoplasmic reticulum|Golgi apparatus|nucleus|plasma membrane calcium ion binding|DNA binding|potassium channel activity|transcription corepressor activity|voltage-gated ion channel activity p.S70C(1) NS(1)|breast(2)|endometrium(1)|large_intestine(2)|lung(3)|ovary(3)|prostate(2)|stomach(1)|upper_aerodigestive_tract(1) 16 READ - Rectum adenocarcinoma(193;0.13) CTGGAGCTGTCCACGGTGCGC 0.597000 34 89 0 0 1 0 0 GLB1 2720 broad.mit.edu 37 3 33038574 33038574 + Missense_Mutation SNP G G A TCGA-FD-A43N-01A-11D-A23U-08 TCGA-FD-A43N-10A-01D-A23U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7ad967f2-cade-41e1-9aaf-b651ebafb8ef 38660148-12e6-4dae-9041-075ca6892d9b g.chr3:33038574G>A ENST00000307363.5 - 16 2141 c.1997C>T c.(1996-1998)cCg>cTg p.P666L GLB1_ENST00000399402.3_Missense_Mutation_p.P636L|GLB1_ENST00000307377.8_Missense_Mutation_p.P535L|GLB1_ENST00000445488.2_Missense_Mutation_p.P714L NM_000404.2 NP_000395 P16278 BGAL_HUMAN galactosidase, beta 1 666 carbohydrate metabolic process lysosome|perinuclear region of cytoplasm beta-galactosidase activity|cation binding|protein binding breast(2)|central_nervous_system(1)|endometrium(2)|kidney(4)|large_intestine(6)|lung(3)|ovary(1)|skin(1)|urinary_tract(1) 21 Melanoma(143;0.104) GTTTTTTTGCGGGGGTGGGGG 0.483000 64 125 0 0 1 0 0 C6orf136 221545 broad.mit.edu 37 6 30618839 30618839 + Missense_Mutation SNP G G C TCGA-FD-A43N-01A-11D-A23U-08 TCGA-FD-A43N-10A-01D-A23U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7ad967f2-cade-41e1-9aaf-b651ebafb8ef 38660148-12e6-4dae-9041-075ca6892d9b g.chr6:30618839G>C ENST00000293604.6 + 3 1279 c.1086G>C c.(1084-1086)gaG>gaC p.E362D C6orf136_ENST00000376473.5_Missense_Mutation_p.E181D|C6orf136_ENST00000376471.4_Missense_Mutation_p.E47D|C6orf136_ENST00000528347.2_Missense_Mutation_p.E38D NM_001161376.1 NP_001154848.1 Q5SQH8 CF136_HUMAN chromosome 6 open reading frame 136 181 endometrium(1)|large_intestine(2)|lung(6)|ovary(1) 10 TCATCAATGAGATCCTCAACA 0.488000 37 299 0 0 1 0 0 C11orf30 56946 broad.mit.edu 37 11 76255837 76255837 + Missense_Mutation SNP G G A TCGA-FD-A43N-01A-11D-A23U-08 TCGA-FD-A43N-10A-01D-A23U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7ad967f2-cade-41e1-9aaf-b651ebafb8ef 38660148-12e6-4dae-9041-075ca6892d9b g.chr11:76255837G>A ENST00000529032.1 + 18 3244 c.3244G>A c.(3244-3246)Gct>Act p.A1082T C11orf30_ENST00000524767.1_Missense_Mutation_p.A1097T|C11orf30_ENST00000524490.1_Missense_Mutation_p.A984T|C11orf30_ENST00000525919.1_Missense_Mutation_p.A1083T|C11orf30_ENST00000533248.1_Missense_Mutation_p.A991T|C11orf30_ENST00000525038.1_Missense_Mutation_p.A1083T|C11orf30_ENST00000343878.3_Missense_Mutation_p.A1082T|C11orf30_ENST00000334736.3_Missense_Mutation_p.A1082T Q7Z589 EMSY_HUMAN chromosome 11 open reading frame 30 1082 Gln-rich. chromatin modification|DNA repair|regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus NS(1)|breast(4)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(10)|liver(1)|lung(23)|ovary(5)|prostate(2)|skin(4)|stomach(1)|urinary_tract(2) 60 GTCGCTCCCAGCTTCTTCAGA 0.478000 8 97 0 0 1 0 0 FAM27L 284123 broad.mit.edu 37 17 21825544 21825544 + RNA SNP C C T TCGA-FD-A43N-01A-11D-A23U-08 TCGA-FD-A43N-10A-01D-A23U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7ad967f2-cade-41e1-9aaf-b651ebafb8ef 38660148-12e6-4dae-9041-075ca6892d9b g.chr17:21825544C>T ENST00000426869.3 + 0 248 NR_028336.1 family with sequence similarity 27-like central_nervous_system(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(7)|prostate(1) 14 UCEC - Uterine corpus endometrioid carcinoma (53;0.11)|BRCA - Breast invasive adenocarcinoma(1;0.00463) gcgcggcatcccatcttcagg 0.637000 75 86 0 0 1 0 0 ANO4 121601 broad.mit.edu 37 12 101493479 101493479 + Silent SNP C C T TCGA-FD-A43N-01A-11D-A23U-08 TCGA-FD-A43N-10A-01D-A23U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7ad967f2-cade-41e1-9aaf-b651ebafb8ef 38660148-12e6-4dae-9041-075ca6892d9b g.chr12:101493479C>T ENST00000392979.3 + 21 2386 c.2025C>T c.(2023-2025)ttC>ttT p.F675F ANO4_ENST00000392977.3_Silent_p.F710F|ANO4_ENST00000550015.1_Silent_p.F230F|ANO4_ENST00000299222.9_Silent_p.F230F NM_178826.3 NP_849148.2 Q32M45 ANO4_HUMAN anoctamin 4 710 chloride channel complex chloride channel activity NS(1)|biliary_tract(1)|breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(14)|lung(33)|ovary(4)|prostate(5)|skin(7)|stomach(2)|urinary_tract(1) 78 ATGGACTCTTCGATGAATACT 0.333000 HNSCC(74;0.22) 23 67 0 0 1 0 0 SDHAP1 255812 broad.mit.edu 37 3 195698264 195698264 + RNA SNP T T C rs12485654 by1000genomes TCGA-FD-A43N-01A-11D-A23U-08 TCGA-FD-A43N-10A-01D-A23U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7ad967f2-cade-41e1-9aaf-b651ebafb8ef 38660148-12e6-4dae-9041-075ca6892d9b g.chr3:195698264T>C ENST00000427841.1 - 0 1608 NR_003264.2 TTTGTCAACATTCGTGACAGA 0.413000 4 88 0 0 1 0 0 FMN2 56776 broad.mit.edu 37 1 240371091 240371091 + Silent SNP C C T TCGA-FD-A43N-01A-11D-A23U-08 TCGA-FD-A43N-10A-01D-A23U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7ad967f2-cade-41e1-9aaf-b651ebafb8ef 38660148-12e6-4dae-9041-075ca6892d9b g.chr1:240371091C>T ENST00000319653.9 + 5 3209 c.2979C>T c.(2977-2979)ccC>ccT p.P993P NM_020066.4 NP_064450.3 Q9NZ56 FMN2_HUMAN formin 2 993 FH1.|Pro-rich. actin cytoskeleton organization|establishment of meiotic spindle localization|intracellular signal transduction|meiotic chromosome movement towards spindle pole|meiotic metaphase I|multicellular organismal development|oogenesis|polar body extrusion after meiotic divisions actin binding NS(1)|breast(7)|central_nervous_system(6)|cervix(1)|endometrium(14)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(13)|lung(87)|ovary(6)|pancreas(3)|prostate(12)|skin(7)|stomach(2)|upper_aerodigestive_tract(6)|urinary_tract(2) 178 Ovarian(103;0.127) all_cancers(173;0.013) OV - Ovarian serous cystadenocarcinoma(106;0.0106) CCCCACTTCCCGGAGCGGGCA 0.711000 10 53 0 0 1 0 0 ZDBF2 57683 broad.mit.edu 37 2 207175479 207175479 + Missense_Mutation SNP G G A TCGA-FD-A43N-01A-11D-A23U-08 TCGA-FD-A43N-10A-01D-A23U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7ad967f2-cade-41e1-9aaf-b651ebafb8ef 38660148-12e6-4dae-9041-075ca6892d9b g.chr2:207175479G>A ENST00000374423.3 + 5 6613 c.6227G>A c.(6226-6228)cGt>cAt p.R2076H NM_020923.1 NP_065974.1 Q9HCK1 ZDBF2_HUMAN zinc finger, DBF-type containing 2 2076 nucleic acid binding|zinc ion binding endometrium(4)|kidney(5)|large_intestine(28)|lung(50)|ovary(4)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 95 TTTGAGAGGCGTAACTGGGTT 0.393000 33 41 0 0 1 0 0 ATM 472 broad.mit.edu 37 11 108117739 108117739 + Missense_Mutation SNP A A G TCGA-FD-A43N-01A-11D-A23U-08 TCGA-FD-A43N-10A-01D-A23U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7ad967f2-cade-41e1-9aaf-b651ebafb8ef 38660148-12e6-4dae-9041-075ca6892d9b g.chr11:108117739A>G ENST00000278616.4 + 8 1335 c.950A>G c.(949-951)gAt>gGt p.D317G ATM_ENST00000452508.2_Missense_Mutation_p.D317G NM_000051.3 NP_000042 Q13315 ATM_HUMAN ataxia telangiectasia mutated 317 cell cycle arrest|cellular response to gamma radiation|DNA damage induced protein phosphorylation|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|double-strand break repair via homologous recombination|G2/M transition DNA damage checkpoint|histone mRNA catabolic process|mitotic cell cycle spindle assembly checkpoint|negative regulation of B cell proliferation|peptidyl-serine phosphorylation|positive regulation of DNA damage response, signal transduction by p53 class mediator|pre-B cell allelic exclusion|protein autophosphorylation|reciprocal meiotic recombination|replicative senescence cytoplasmic membrane-bounded vesicle|nucleoplasm 1-phosphatidylinositol-3-kinase activity|ATP binding|DNA binding|DNA-dependent protein kinase activity|identical protein binding|protein complex binding|protein dimerization activity|protein N-terminus binding NS(4)|breast(23)|central_nervous_system(11)|endometrium(10)|haematopoietic_and_lymphoid_tissue(227)|kidney(19)|large_intestine(53)|liver(5)|lung(62)|ovary(6)|pancreas(4)|prostate(13)|skin(4)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(3) 448 all_cancers(61;9.64e-12)|all_epithelial(67;9.97e-08)|Melanoma(852;2.55e-06)|Acute lymphoblastic leukemia(157;3.95e-05)|all_hematologic(158;0.00014)|Breast(348;0.0258)|all_neural(303;0.072) Epithelial(105;9.05e-06)|BRCA - Breast invasive adenocarcinoma(274;1.06e-05)|all cancers(92;0.000208)|Colorectal(284;0.116)|OV - Ovarian serous cystadenocarcinoma(223;0.147) AACTTATATGATCTGCTAGTG 0.294000 """D, Mis, N, F, S""" T-PLL """leukemia, lymphoma, medulloblastoma, glioma""" Genes defective in diseases associated with sensitivity to DNA damaging agents Ataxia Telangiectasia TSP Lung(14;0.12) 36 55 0 0 1 0 0 HIST1H2BA 255626 broad.mit.edu 37 6 25727310 25727310 + Silent SNP G G A TCGA-FD-A43N-01A-11D-A23U-08 TCGA-FD-A43N-10A-01D-A23U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7ad967f2-cade-41e1-9aaf-b651ebafb8ef 38660148-12e6-4dae-9041-075ca6892d9b g.chr6:25727310G>A ENST00000274764.2 + 1 174 c.174G>A c.(172-174)tcG>tcA p.S58S NM_170610.2 NP_733759.1 Q96A08 H2B1A_HUMAN histone cluster 1, H2ba 58 nucleosome assembly nucleosome|nucleus DNA binding breast(1)|kidney(1) 2 GCATCTCTTCGAAAGCTATGA 0.458000 45 272 0 0 1 0 0 PRICKLE2 166336 broad.mit.edu 37 3 64085406 64085406 + Missense_Mutation SNP C C T TCGA-FD-A43N-01A-11D-A23U-08 TCGA-FD-A43N-10A-01D-A23U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7ad967f2-cade-41e1-9aaf-b651ebafb8ef 38660148-12e6-4dae-9041-075ca6892d9b g.chr3:64085406C>T ENST00000295902.6 - 8 2441 c.1856G>A c.(1855-1857)gGa>gAa p.G619E PRICKLE2_ENST00000564377.1_Missense_Mutation_p.G675E|PRICKLE2-AS1_ENST00000476308.1_RNA|RP11-129B22.1_ENST00000482609.1_RNA NM_198859.3 NP_942559.1 Q7Z3G6 PRIC2_HUMAN prickle homolog 2 (Drosophila) 619 cytoplasm|nuclear membrane zinc ion binding breast(2)|endometrium(1)|large_intestine(9)|liver(1)|lung(10)|ovary(4)|prostate(2)|skin(2)|stomach(1) 32 Lung NSC(201;0.136) BRCA - Breast invasive adenocarcinoma(55;0.000971)|KIRC - Kidney renal clear cell carcinoma(15;0.00443)|Kidney(15;0.00497) GTGGAGGTTTCCCTCCATCTC 0.572000 30 215 0 0 1 0 0 BRMS1 25855 broad.mit.edu 37 11 66108764 66108764 + Missense_Mutation SNP C C G TCGA-FD-A43N-01A-11D-A23U-08 TCGA-FD-A43N-10A-01D-A23U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7ad967f2-cade-41e1-9aaf-b651ebafb8ef 38660148-12e6-4dae-9041-075ca6892d9b g.chr11:66108764C>G ENST00000359957.3 - 4 431 c.271G>C c.(271-273)Gag>Cag p.E91Q BRMS1_ENST00000425825.2_Missense_Mutation_p.E91Q NM_015399.3 NP_056214.1 Q9HCU9 BRMS1_HUMAN breast cancer metastasis suppressor 1 91 apoptosis|negative regulation of anti-apoptosis|negative regulation of NF-kappaB transcription factor activity|negative regulation of transcription, DNA-dependent|positive regulation of anoikis|positive regulation of protein deacetylation|transcription, DNA-dependent cytoplasm|nucleus NF-kappaB binding large_intestine(1)|liver(1)|lung(1)|prostate(1)|skin(1) 5 CCCACTTCCTCCAGCCGCAAC 0.607000 10 76 0 0 1 0 0 EFHC1 114327 broad.mit.edu 37 6 52329810 52329810 + Missense_Mutation SNP A A G TCGA-FD-A43N-01A-11D-A23U-08 TCGA-FD-A43N-10A-01D-A23U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7ad967f2-cade-41e1-9aaf-b651ebafb8ef 38660148-12e6-4dae-9041-075ca6892d9b g.chr6:52329810A>G ENST00000371068.5 + 6 1137 c.1034A>G c.(1033-1035)tAt>tGt p.Y345C EFHC1_ENST00000433625.2_Missense_Mutation_p.Y254C|EFHC1_ENST00000538167.1_Missense_Mutation_p.Y326C NM_018100.3 NP_060570.2 Q5JVL4 EFHC1_HUMAN EF-hand domain (C-terminal) containing 1 345 DM10 2. axoneme|neuronal cell body calcium ion binding|protein C-terminus binding breast(3)|central_nervous_system(1)|endometrium(4)|large_intestine(8)|lung(6)|ovary(2)|pancreas(1)|prostate(1)|skin(1) 27 Lung NSC(77;0.109) TTCTTCATTTATGATTGTGAT 0.403000 39 75 0 0 1 0 0 MYO9B 4650 broad.mit.edu 37 19 17309002 17309002 + Missense_Mutation SNP G G C TCGA-FD-A43N-01A-11D-A23U-08 TCGA-FD-A43N-10A-01D-A23U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7ad967f2-cade-41e1-9aaf-b651ebafb8ef 38660148-12e6-4dae-9041-075ca6892d9b g.chr19:17309002G>C ENST00000595618.1 + 24 4275 c.4123G>C c.(4123-4125)Gaa>Caa p.E1375Q MYO9B_ENST00000594824.1_Missense_Mutation_p.E1375Q|MYO9B_ENST00000397274.2_Missense_Mutation_p.E1375Q NM_001130065.1|NM_004145.3 NP_001123537.1|NP_004136.2 Q13459 MYO9B_HUMAN myosin IXB 1375 Tail. actin filament-based movement cell cortex|cytosol|filamentous actin|myosin complex|perinuclear region of cytoplasm actin binding|ADP binding|ATP binding|ATPase activity|calmodulin binding|metal ion binding|microfilament motor activity|Rho GTPase activator activity breast(3)|endometrium(9)|kidney(2)|large_intestine(1)|lung(19)|soft_tissue(1)|urinary_tract(4) 39 GCCTGCAGCAGAAACCACGGA 0.617000 6 43 0 0 1 0 0 WASF3 10810 broad.mit.edu 37 13 27255279 27255279 + Missense_Mutation SNP G G T TCGA-FD-A43N-01A-11D-A23U-08 TCGA-FD-A43N-10A-01D-A23U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7ad967f2-cade-41e1-9aaf-b651ebafb8ef 38660148-12e6-4dae-9041-075ca6892d9b g.chr13:27255279G>T ENST00000361042.4 + 8 1021 c.796G>T c.(796-798)Gct>Tct p.A266S WASF3_ENST00000335327.5_Missense_Mutation_p.A269S Q9UPY6 WASF3_HUMAN WAS protein family, member 3 269 actin filament polymerization cytoplasm|cytoskeleton actin binding breast(2)|endometrium(3)|kidney(2)|large_intestine(4)|lung(6)|pancreas(1)|prostate(2)|skin(2) 22 Colorectal(5;0.000247) Lung SC(185;0.0156)|Breast(139;0.147) all cancers(112;0.0114)|Epithelial(112;0.046)|OV - Ovarian serous cystadenocarcinoma(117;0.0547)|Lung(94;0.105)|LUSC - Lung squamous cell carcinoma(192;0.155) TTCCTATGCAGCTGGTGACGT 0.607000 64 159 3.61411e-23 4.01397e-23 1 1 0 FAM227B 196951 broad.mit.edu 37 15 49663592 49663592 + Silent SNP G G A rs145082626 TCGA-FD-A43N-01A-11D-A23U-08 TCGA-FD-A43N-10A-01D-A23U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7ad967f2-cade-41e1-9aaf-b651ebafb8ef 38660148-12e6-4dae-9041-075ca6892d9b g.chr15:49663592G>A ENST00000299338.6 - 12 1320 c.1017C>T c.(1015-1017)atC>atT p.I339I NM_152647.2 NP_689860.2 family with sequence similarity 227, member B TATTGAAGTCGATACCTAAAA 0.328000 73 125 0 0 1 0 0 RNASEL 6041 broad.mit.edu 37 1 182555353 182555353 + Missense_Mutation SNP C C T TCGA-FD-A43N-01A-11D-A23U-08 TCGA-FD-A43N-10A-01D-A23U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7ad967f2-cade-41e1-9aaf-b651ebafb8ef 38660148-12e6-4dae-9041-075ca6892d9b g.chr1:182555353C>T ENST00000367559.3 - 2 842 c.589G>A c.(589-591)Gcc>Acc p.A197T RNASEL_ENST00000444138.1_Missense_Mutation_p.A197T|RNASEL_ENST00000539397.1_Missense_Mutation_p.A197T NM_021133.3 NP_066956.1 Q05823 RN5A_HUMAN ribonuclease L (2',5'-oligoisoadenylate synthetase-dependent) 197 mRNA processing|response to virus|type I interferon-mediated signaling pathway mitochondrion ATP binding|endoribonuclease activity, producing 5'-phosphomonoesters|metal ion binding|protein kinase activity|RNA binding NS(1)|breast(1)|endometrium(3)|kidney(3)|large_intestine(3)|lung(9)|ovary(4)|prostate(1)|stomach(1)|urinary_tract(1) 27 TTGTCACAGGCGTTTACATCT 0.527000 16 139 0 0 1 0 0 ATP11A 23250 broad.mit.edu 37 13 113439521 113439521 + Missense_Mutation SNP G G C TCGA-FD-A43N-01A-11D-A23U-08 TCGA-FD-A43N-10A-01D-A23U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7ad967f2-cade-41e1-9aaf-b651ebafb8ef 38660148-12e6-4dae-9041-075ca6892d9b g.chr13:113439521G>C ENST00000487903.1 + 2 200 c.112G>C c.(112-114)Gag>Cag p.E38Q ATP11A_ENST00000375645.3_Missense_Mutation_p.E38Q|ATP11A_ENST00000375630.2_Missense_Mutation_p.E38Q|ATP11A_ENST00000283558.8_Missense_Mutation_p.E38Q P98196 AT11A_HUMAN ATPase, class VI, type 11A 38 ATP biosynthetic process integral to membrane ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|magnesium ion binding|phospholipid-translocating ATPase activity NS(1)|central_nervous_system(3)|cervix(1)|endometrium(6)|kidney(4)|large_intestine(12)|lung(17)|ovary(4)|skin(1)|stomach(1)|urinary_tract(1) 51 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) all_lung(25;0.134)|all_epithelial(44;0.141) TCCGGGCGCAGAGGCCTACAT 0.557000 OREG0003855 type=REGULATORY REGION|Gene=ATP11A|Dataset=Stanford ENCODE Dataset|EvidenceSubtype=Transient transfection luciferase assay 21 147 0 0 1 0 0 GALNT18 374378 broad.mit.edu 37 11 11454225 11454225 + Missense_Mutation SNP G G A TCGA-FD-A43N-01A-11D-A23U-08 TCGA-FD-A43N-10A-01D-A23U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7ad967f2-cade-41e1-9aaf-b651ebafb8ef 38660148-12e6-4dae-9041-075ca6892d9b g.chr11:11454225G>A ENST00000227756.4 - 3 949 c.538C>T c.(538-540)Cgc>Tgc p.R180C NM_198516.2 NP_940918.2 UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase 18 GGGGGCGTGCGTTCCATGGCC 0.577000 5 20 0 0 1 0 0 SVEP1 79987 broad.mit.edu 37 9 113192271 113192271 + Silent SNP A A T TCGA-FD-A43N-01A-11D-A23U-08 TCGA-FD-A43N-10A-01D-A23U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7ad967f2-cade-41e1-9aaf-b651ebafb8ef 38660148-12e6-4dae-9041-075ca6892d9b g.chr9:113192271A>T ENST00000401783.2 - 34 5880 c.5544T>A c.(5542-5544)ggT>ggA p.G1848G SVEP1_ENST00000374469.1_Silent_p.G1825G NM_153366.3 NP_699197.3 Q4LDE5 SVEP1_HUMAN sushi, von Willebrand factor type A, EGF and pentraxin domain containing 1 1848 Sushi 8. cell adhesion cytoplasm|extracellular region|membrane calcium ion binding NS(1)|autonomic_ganglia(1)|breast(5)|central_nervous_system(1)|cervix(2)|endometrium(19)|kidney(8)|large_intestine(24)|lung(58)|ovary(7)|prostate(7)|skin(1)|stomach(4)|upper_aerodigestive_tract(5)|urinary_tract(4) 147 TAGCCGGTTTACCACATGAAA 0.348000 35 48 0 0 1 0 0 MFSD6L 162387 broad.mit.edu 37 17 8701260 8701260 + Missense_Mutation SNP C C T TCGA-FD-A43N-01A-11D-A23U-08 TCGA-FD-A43N-10A-01D-A23U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7ad967f2-cade-41e1-9aaf-b651ebafb8ef 38660148-12e6-4dae-9041-075ca6892d9b g.chr17:8701260C>T ENST00000329805.4 - 1 1407 c.1179G>A c.(1177-1179)atG>atA p.M393I NM_152599.3 NP_689812.3 Q8IWD5 MFS6L_HUMAN major facilitator superfamily domain containing 6-like 393 integral to membrane central_nervous_system(1)|endometrium(1)|kidney(3)|large_intestine(1)|lung(7)|skin(4) 17 CATGGTCCTTCATGTGCCAGA 0.552000 17 103 0 0 1 0 0 OXT 5020 broad.mit.edu 37 20 3052875 3052875 + Silent SNP G G A TCGA-FD-A43N-01A-11D-A23U-08 TCGA-FD-A43N-10A-01D-A23U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7ad967f2-cade-41e1-9aaf-b651ebafb8ef 38660148-12e6-4dae-9041-075ca6892d9b g.chr20:3052875G>A ENST00000217386.2 + 2 309 c.273G>A c.(271-273)gcG>gcA p.A91A NM_000915.2 NP_000906.1 P01178 NEU1_HUMAN oxytocin/neurophysin I prepropeptide 91 signal transduction neurohypophyseal hormone activity lung(2) 2 Oxytocin(DB00107) GCCAGAAGGCGTGCGGGAGCG 0.766000 7 31 0 0 1 0 0 ELMO1 9844 broad.mit.edu 37 7 37253046 37253046 + Missense_Mutation SNP T T G TCGA-FD-A43N-01A-11D-A23U-08 TCGA-FD-A43N-10A-01D-A23U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7ad967f2-cade-41e1-9aaf-b651ebafb8ef 38660148-12e6-4dae-9041-075ca6892d9b g.chr7:37253046T>G ENST00000310758.4 - 12 1495 c.848A>C c.(847-849)cAg>cCg p.Q283P ELMO1_ENST00000448602.1_Missense_Mutation_p.Q283P|ELMO1_ENST00000442504.1_Missense_Mutation_p.Q283P NM_001206480.1|NM_014800.10 NP_001193409.1|NP_055615.8 Q92556 ELMO1_HUMAN engulfment and cell motility 1 283 actin cytoskeleton organization|apoptosis|cellular component movement|phagocytosis, engulfment|Rac protein signal transduction|regulation of defense response to virus by virus|viral reproduction cytoskeleton|cytosol|plasma membrane SH3 domain binding breast(2)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(11)|liver(2)|lung(28)|ovary(3)|prostate(2)|skin(3)|upper_aerodigestive_tract(1) 58 GATGGCCCGCTGGGCTCGGAT 0.443000 4 54 0 0 1 0 0 C1orf112 55732 broad.mit.edu 37 1 169773374 169773374 + Missense_Mutation SNP G G A TCGA-FD-A43N-01A-11D-A23U-08 TCGA-FD-A43N-10A-01D-A23U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7ad967f2-cade-41e1-9aaf-b651ebafb8ef 38660148-12e6-4dae-9041-075ca6892d9b g.chr1:169773374G>A ENST00000286031.6 + 6 1171 c.471G>A c.(469-471)atG>atA p.M157I C1orf112_ENST00000456684.1_Missense_Mutation_p.M215I|C1orf112_ENST00000359326.4_Missense_Mutation_p.M157I|C1orf112_ENST00000498289.1_3'UTR|C1orf112_ENST00000413811.2_Missense_Mutation_p.M128I NM_018186.2 NP_060656.2 Q9NSG2 CA112_HUMAN chromosome 1 open reading frame 112 157 breast(1)|cervix(1)|endometrium(8)|kidney(4)|large_intestine(8)|lung(9)|ovary(1)|skin(1)|stomach(1) 34 all_hematologic(923;0.0922)|Acute lymphoblastic leukemia(37;0.181) TTTTGAATATGGTAATAGGTG 0.323000 96 155 0 0 1 0 0 MINK1 50488 broad.mit.edu 37 17 4794934 4794934 + Missense_Mutation SNP G G C TCGA-FD-A43N-01A-11D-A23U-08 TCGA-FD-A43N-10A-01D-A23U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7ad967f2-cade-41e1-9aaf-b651ebafb8ef 38660148-12e6-4dae-9041-075ca6892d9b g.chr17:4794934G>C ENST00000355280.6 + 16 2120 c.1924G>C c.(1924-1926)Gac>Cac p.D642H MINK1_ENST00000347992.7_Missense_Mutation_p.D642H|MINK1_ENST00000453408.3_Missense_Mutation_p.D622H NM_001024937.3|NM_015716.4|NM_153827.4 NP_001020108.1|NP_056531.1|NP_722549.2 Q8N4C8 MINK1_HUMAN misshapen-like kinase 1 642 JNK cascade cytoplasm ATP binding|protein binding|protein serine/threonine kinase activity|small GTPase regulator activity central_nervous_system(2)|large_intestine(1)|lung(1)|skin(1)|stomach(1) 6 CCAGAATTCAGACCCCACCTC 0.662000 10 7 0 0 1 0 0 HSD17B7P2 158160 broad.mit.edu 37 10 38654432 38654432 + RNA SNP A A G rs2257765 TCGA-FD-A43N-01A-11D-A23U-08 TCGA-FD-A43N-10A-01D-A23U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7ad967f2-cade-41e1-9aaf-b651ebafb8ef 38660148-12e6-4dae-9041-075ca6892d9b g.chr10:38654432A>G ENST00000494540.1 + 0 599 NR_003086.1 TCATCTCGCAATGCAAGGAAA 0.453000 4 90 0 0 1 0 0 ELK3 2004 broad.mit.edu 37 12 96640905 96640905 + Missense_Mutation SNP C C T TCGA-FD-A43N-01A-11D-A23U-08 TCGA-FD-A43N-10A-01D-A23U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7ad967f2-cade-41e1-9aaf-b651ebafb8ef 38660148-12e6-4dae-9041-075ca6892d9b g.chr12:96640905C>T ENST00000228741.3 + 3 721 c.395C>T c.(394-396)aCg>aTg p.T132M ELK3_ENST00000552142.1_Intron NM_005230.2 NP_005221.2 P41970 ELK3_HUMAN ELK3, ETS-domain protein (SRF accessory protein 2) 132 negative regulation of transcription, DNA-dependent|signal transduction mitochondrion protein binding|purine-rich negative regulatory element binding|sequence-specific DNA binding transcription factor activity|transcription corepressor activity breast(2)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(4)|liver(1)|lung(5)|ovary(2)|prostate(1)|stomach(2) 20 all_cancers(2;0.00173) CTCAGAAGCACGAGCCGCAAC 0.612000 4 32 0 0 1 0 0 RNF17 56163 broad.mit.edu 37 13 25367381 25367381 + Silent SNP G G A TCGA-FD-A43N-01A-11D-A23U-08 TCGA-FD-A43N-10A-01D-A23U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7ad967f2-cade-41e1-9aaf-b651ebafb8ef 38660148-12e6-4dae-9041-075ca6892d9b g.chr13:25367381G>A ENST00000255324.5 + 10 1189 c.1137G>A c.(1135-1137)caG>caA p.Q379Q RNF17_ENST00000381921.1_Silent_p.Q379Q|RNF17_ENST00000255325.6_Silent_p.Q379Q|RNF17_ENST00000255326.4_3'UTR NM_001184993.1|NM_031277.2 NP_001171922.1|NP_112567.2 Q9BXT8 RNF17_HUMAN ring finger protein 17 379 multicellular organismal development cytoplasm|nucleus hydrolase activity, acting on ester bonds|nucleic acid binding|zinc ion binding NS(1)|breast(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(15)|ovary(1)|prostate(3)|skin(6) 36 Lung SC(185;0.0225)|Breast(139;0.077) all cancers(112;0.0114)|OV - Ovarian serous cystadenocarcinoma(117;0.0311)|Epithelial(112;0.0524) TCCAGCCACAGAAAGACGTTG 0.428000 111 192 0 0 1 0 0 ASCC2 84164 broad.mit.edu 37 22 30186505 30186505 + Silent SNP C C G TCGA-FD-A43N-01A-11D-A23U-08 TCGA-FD-A43N-10A-01D-A23U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7ad967f2-cade-41e1-9aaf-b651ebafb8ef 38660148-12e6-4dae-9041-075ca6892d9b g.chr22:30186505C>G ENST00000397771.2 - 20 2232 c.2055G>C c.(2053-2055)ctG>ctC p.L685L ASCC2_ENST00000307790.3_Silent_p.L685L|ASCC2_ENST00000542393.1_Silent_p.L609L Q9H1I8 ASCC2_HUMAN activating signal cointegrator 1 complex subunit 2 685 regulation of transcription, DNA-dependent|transcription, DNA-dependent endometrium(3)|large_intestine(3)|lung(9)|prostate(1)|skin(1)|urinary_tract(1) 18 OV - Ovarian serous cystadenocarcinoma(5;0.000103)|Epithelial(10;0.0169)|all cancers(5;0.0259) CCTTCTCTCTCAGCACTGCAG 0.587000 7 71 0 0 1 0 0 ELF3 1999 broad.mit.edu 37 1 201984377 201984377 + Missense_Mutation SNP C C T TCGA-FD-A43N-01A-11D-A23U-08 TCGA-FD-A43N-10A-01D-A23U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7ad967f2-cade-41e1-9aaf-b651ebafb8ef 38660148-12e6-4dae-9041-075ca6892d9b g.chr1:201984377C>T ENST00000359651.3 + 8 4234 c.1042C>T c.(1042-1044)Cgg>Tgg p.R348W RP11-510N19.5_ENST00000504773.1_RNA|ELF3_ENST00000367284.5_Missense_Mutation_p.R348W|ELF3_ENST00000367283.3_Missense_Mutation_p.R348W P78545 ELF3_HUMAN E74-like factor 3 (ets domain transcription factor, epithelial-specific ) 348 epidermis development|epithelial cell differentiation|inflammatory response|mammary gland involution|negative regulation of transcription, DNA-dependent|positive regulation of transcription, DNA-dependent|transcription from RNA polymerase II promoter Golgi apparatus|nucleus protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription coactivator activity breast(2)|endometrium(2)|large_intestine(6)|lung(5)|ovary(1)|prostate(1)|skin(1)|stomach(1)|urinary_tract(1) 20 GGTGGATGGCCGGCGACTCGT 0.557000 37 93 0 0 1 0 0 PKD2 5311 broad.mit.edu 37 4 88986632 88986632 + Missense_Mutation SNP G G A TCGA-FD-A43N-01A-11D-A23U-08 TCGA-FD-A43N-10A-01D-A23U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7ad967f2-cade-41e1-9aaf-b651ebafb8ef 38660148-12e6-4dae-9041-075ca6892d9b g.chr4:88986632G>A ENST00000237596.2 + 11 2291 c.2225G>A c.(2224-2226)cGa>cAa p.R742Q PKD2_ENST00000508588.1_Missense_Mutation_p.R160Q|PKD2_ENST00000502363.1_Missense_Mutation_p.R160Q|PKD2_ENST00000511337.1_3'UTR NM_000297.3 NP_000288.1 Q13563 PKD2_HUMAN polycystic kidney disease 2 (autosomal dominant) 742 EF-hand domain. basal cortex|basal plasma membrane|endoplasmic reticulum|integral to membrane|lamellipodium|microtubule basal body calcium ion binding|cytoskeletal protein binding|voltage-gated chloride channel activity|voltage-gated sodium channel activity breast(1)|endometrium(4)|kidney(1)|large_intestine(8)|liver(2)|lung(15)|skin(4)|upper_aerodigestive_tract(1) 36 Hepatocellular(203;0.114)|Acute lymphoblastic leukemia(40;0.221) OV - Ovarian serous cystadenocarcinoma(123;9.98e-10)|COAD - Colon adenocarcinoma(81;0.0237) GACGAACTTCGACAAGATCTC 0.403000 18 274 0 0 1 0 0 TP53 7157 broad.mit.edu 37 17 7577511 7577511 + Missense_Mutation SNP A A T rs28934577 TCGA-FD-A43N-01A-11D-A23U-08 TCGA-FD-A43N-10A-01D-A23U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7ad967f2-cade-41e1-9aaf-b651ebafb8ef 38660148-12e6-4dae-9041-075ca6892d9b g.chr17:7577511A>T ENST00000420246.2 - 7 902 c.770T>A c.(769-771)cTg>cAg p.L257Q TP53_ENST00000413465.2_Missense_Mutation_p.L257Q|TP53_ENST00000445888.2_Missense_Mutation_p.L257Q|TP53_ENST00000455263.2_Missense_Mutation_p.L257Q|TP53_ENST00000359597.4_Missense_Mutation_p.L257Q|TP53_ENST00000269305.4_Missense_Mutation_p.L257Q NM_001126114.2|NM_001276696.1 NP_001119586.1|NP_001263625.1 P04637 P53_HUMAN tumor protein p53 257 Interaction with AXIN1 (By similarity).|Interaction with E4F1.|Interaction with HIPK1 (By similarity). L -> P (in sporadic cancers; somatic mutation).|L -> Q (in LFS; germline mutation and in sporadic cancers; somatic mutation; dbSNP:rs28934577).|L -> R (in sporadic cancers; somatic mutation).|L -> V (in sporadic cancers; somatic mutation). activation of caspase activity by cytochrome c|base-excision repair|blood coagulation|cell cycle arrest|cell differentiation|cell proliferation|cellular protein localization|cellular response to drug|cellular response to glucose starvation|cellular response to hypoxia|cellular response to ionizing radiation|cellular response to UV|determination of adult lifespan|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|ER overload response|interspecies interaction between organisms|negative regulation of apoptosis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of helicase activity|negative regulation of transcription from RNA polymerase II promoter|nucleotide-excision repair|oxidative stress-induced premature senescence|positive regulation of histone deacetylation|positive regulation of neuron apoptosis|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of reactive oxygen species metabolic process|positive regulation of thymocyte apoptosis|positive regulation of transcription from RNA polymerase II promoter|protein localization|protein tetramerization|Ras protein signal transduction|regulation of mitochondrial membrane permeability|replicative senescence|response to antibiotic|response to gamma radiation|response to X-ray cytoplasm|cytosol|endoplasmic reticulum|insoluble fraction|mitochondrion|nuclear chromatin|nuclear matrix|nucleolus|nucleus|PML body|protein complex|replication fork ATP binding|chaperone binding|chromatin binding|copper ion binding|damaged DNA binding|DNA strand annealing activity|histone acetyltransferase binding|p53 binding|protease binding|protein binding|protein heterodimerization activity|protein kinase binding|protein N-terminus binding|protein phosphatase 2A binding|RNA polymerase II transcription factor binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|transcription repressor activity|ubiquitin protein ligase binding|zinc ion binding p.0?(8)|p.L257Q(8)|p.L257P(8)|p.L257fs*6(2)|p.?(1)|p.T256fs*87(1)|p.L257R(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) GGAGTCTTCCAGTGTGATGAT 0.582000 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) 9 76 0 0 1 0 0 TRBV7-8 28590 broad.mit.edu 37 7 142099702 142099702 + RNA SNP T T G TCGA-FD-A43N-01A-11D-A23U-08 TCGA-FD-A43N-10A-01D-A23U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7ad967f2-cade-41e1-9aaf-b651ebafb8ef 38660148-12e6-4dae-9041-075ca6892d9b g.chr7:142099702T>G ENST00000390359.3 - 0 138 TCCTGTCCTCTCTTTGCGACT 0.473000 10 106 0 0 1 0 0 KRTAP4-12 83755 broad.mit.edu 37 17 39280193 39280193 + Missense_Mutation SNP C C T TCGA-FD-A43N-01A-11D-A23U-08 TCGA-FD-A43N-10A-01D-A23U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7ad967f2-cade-41e1-9aaf-b651ebafb8ef 38660148-12e6-4dae-9041-075ca6892d9b g.chr17:39280193C>T ENST00000394014.1 - 1 226 c.182G>A c.(181-183)tGc>tAc p.C61Y NM_031854.2 NP_114060.1 Q9BQ66 KR412_HUMAN keratin associated protein 4-12 61 31 X 5 AA repeats of C-C-[GRQVIL]-[SPTR]- [VSTQPC]. keratin filament endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(1)|prostate(1)|upper_aerodigestive_tract(1) 13 Breast(137;0.000496) STAD - Stomach adenocarcinoma(17;0.000371) GCTGGGGCGGCAGCAGGTGGG 0.672000 11 166 0 0 1 0 0 PCDH8 5100 broad.mit.edu 37 13 53421522 53421522 + Silent SNP G G A TCGA-FD-A43N-01A-11D-A23U-08 TCGA-FD-A43N-10A-01D-A23U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7ad967f2-cade-41e1-9aaf-b651ebafb8ef 38660148-12e6-4dae-9041-075ca6892d9b g.chr13:53421522G>A ENST00000377942.3 - 1 1253 c.1050C>T c.(1048-1050)aaC>aaT p.N350N PCDH8_ENST00000338862.4_Silent_p.N350N NM_002590.3 NP_002581.2 O95206 PCDH8_HUMAN protocadherin 8 350 Cadherin 3. cell-cell signaling|homophilic cell adhesion cell junction|dendrite|integral to plasma membrane|postsynaptic membrane|presynaptic membrane calcium ion binding breast(1)|central_nervous_system(2)|endometrium(2)|large_intestine(5)|lung(23)|ovary(1)|skin(1)|urinary_tract(1) 36 Lung NSC(96;0.0019)|Breast(56;0.00235)|Hepatocellular(98;0.065)|Prostate(109;0.0771)|all_neural(104;0.173) GBM - Glioblastoma multiforme(99;2.19e-08) TGTCGGGTGCGTTGTCATTGA 0.736000 5 34 0 0 1 0 0 SLC16A7 9194 broad.mit.edu 37 12 60168942 60168942 + Missense_Mutation SNP T T G TCGA-FD-A43N-01A-11D-A23U-08 TCGA-FD-A43N-10A-01D-A23U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7ad967f2-cade-41e1-9aaf-b651ebafb8ef 38660148-12e6-4dae-9041-075ca6892d9b g.chr12:60168942T>G ENST00000261187.4 + 4 1030 c.866T>G c.(865-867)aTg>aGg p.M289R SLC16A7_ENST00000547379.1_Missense_Mutation_p.M289R|SLC16A7_ENST00000552024.1_Missense_Mutation_p.M289R|SLC16A7_ENST00000552432.1_Missense_Mutation_p.M289R|SLC16A7_ENST00000543448.1_Missense_Mutation_p.M190R NM_004731.4 NP_004722.2 O60669 MOT2_HUMAN solute carrier family 16 (monocarboxylate transporter), member 7 289 integral to plasma membrane|membrane fraction pyruvate secondary active transmembrane transporter activity|secondary active monocarboxylate transmembrane transporter activity|symporter activity endometrium(1)|large_intestine(14)|liver(2)|lung(11)|ovary(1)|skin(1) 30 GBM - Glioblastoma multiforme(3;0.0303) Pyruvic acid(DB00119) CTATCTGTTATGGCTTTCGTT 0.383000 23 147 0 0 1 0 0 NAT6 24142 broad.mit.edu 37 3 50334066 50334066 + Missense_Mutation SNP G G A rs74426485 by1000genomes TCGA-FD-A43N-01A-11D-A23U-08 TCGA-FD-A43N-10A-01D-A23U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7ad967f2-cade-41e1-9aaf-b651ebafb8ef 38660148-12e6-4dae-9041-075ca6892d9b g.chr3:50334066G>A ENST00000443842.1 - 2 1636 c.829C>T c.(829-831)Cgc>Tgc p.R277C NAT6_ENST00000417393.1_Missense_Mutation_p.R277C|HYAL3_ENST00000336307.1_Intron|NAT6_ENST00000354862.4_Missense_Mutation_p.R299C|HYAL3_ENST00000450982.1_Intron|HYAL3_ENST00000513170.1_Intron|HYAL3_ENST00000415204.1_Intron|NAT6_ENST00000443094.2_Missense_Mutation_p.R277C|HYAL3_ENST00000359051.3_Intron N-acetyltransferase 6 (GCN5-related) p.R299C(1) endometrium(3)|lung(1)|skin(1) 5 BRCA - Breast invasive adenocarcinoma(193;0.000272)|KIRC - Kidney renal clear cell carcinoma(197;0.00544)|Kidney(197;0.00605) AATATGGGGCGCCCCCTCACA 0.547000 19 80 0 0 1 0 0 SPG7 6687 broad.mit.edu 37 16 89590476 89590476 + Missense_Mutation SNP G G T TCGA-FD-A43N-01A-11D-A23U-08 TCGA-FD-A43N-10A-01D-A23U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7ad967f2-cade-41e1-9aaf-b651ebafb8ef 38660148-12e6-4dae-9041-075ca6892d9b g.chr16:89590476G>T ENST00000268704.2 + 4 454 c.439G>T c.(439-441)Gtc>Ttc p.V147F SPG7_ENST00000341316.2_Missense_Mutation_p.V147F NM_003119.2 NP_003110.1 Q9UQ90 SPG7_HUMAN spastic paraplegia 7 (pure and complicated autosomal recessive) 147 cell death|nervous system development|protein catabolic process|proteolysis integral to membrane|mitochondrial membrane ATP binding|metalloendopeptidase activity|nucleoside-triphosphatase activity|unfolded protein binding|zinc ion binding autonomic_ganglia(1)|breast(2)|endometrium(2)|kidney(1)|large_intestine(4)|lung(7)|ovary(2)|urinary_tract(1) 20 all_hematologic(23;0.00824)|Colorectal(91;0.102) all cancers(4;1.39e-07)|OV - Ovarian serous cystadenocarcinoma(4;5.64e-06)|BRCA - Breast invasive adenocarcinoma(80;0.015) CACCTTGCTGGTCATCGCGGT 0.592000 23 93 1.87028e-06 1.95257e-06 1 1 0 AHNAK 79026 broad.mit.edu 37 11 62288108 62288108 + Missense_Mutation SNP G G C TCGA-FD-A43N-01A-11D-A23U-08 TCGA-FD-A43N-10A-01D-A23U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7ad967f2-cade-41e1-9aaf-b651ebafb8ef 38660148-12e6-4dae-9041-075ca6892d9b g.chr11:62288108G>C ENST00000378024.4 - 5 14055 c.13781C>G c.(13780-13782)tCt>tGt p.S4594C AHNAK_ENST00000530124.1_Intron|AHNAK_ENST00000257247.7_Intron NM_001620.1 NP_001611.1 Q09666 AHNK_HUMAN AHNAK nucleoprotein 4594 nervous system development nucleus protein binding NS(3)|autonomic_ganglia(1)|breast(10)|central_nervous_system(5)|endometrium(17)|haematopoietic_and_lymphoid_tissue(2)|kidney(33)|large_intestine(40)|liver(1)|lung(108)|ovary(13)|pancreas(4)|prostate(5)|skin(16)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(6) 268 Melanoma(852;0.155) TTCAGGCATAGAGATCTTCGG 0.493000 95 149 0 0 1 0 0 OR4D5 219875 broad.mit.edu 37 11 123810687 123810687 + Missense_Mutation SNP C C T TCGA-FD-A43N-01A-11D-A23U-08 TCGA-FD-A43N-10A-01D-A23U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7ad967f2-cade-41e1-9aaf-b651ebafb8ef 38660148-12e6-4dae-9041-075ca6892d9b g.chr11:123810687C>T ENST00000307033.2 + 1 438 c.364C>T c.(364-366)Cgc>Tgc p.R122C NM_001001965.1 NP_001001965.1 Q8NGN0 OR4D5_HUMAN olfactory receptor, family 4, subfamily D, member 5 122 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity p.R122S(1) autonomic_ganglia(1)|endometrium(2)|kidney(2)|large_intestine(4)|lung(17)|ovary(1)|pancreas(1)|prostate(7)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 41 Breast(109;0.00867)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|all_neural(223;0.22) BRCA - Breast invasive adenocarcinoma(274;4.88e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0399) GGCGTATGACCGCTACATTGC 0.517000 99 56 0 0 1 0 0 BTAF1 9044 broad.mit.edu 37 10 93786488 93786488 + Missense_Mutation SNP C C T TCGA-FD-A43N-01A-11D-A23U-08 TCGA-FD-A43N-10A-01D-A23U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7ad967f2-cade-41e1-9aaf-b651ebafb8ef 38660148-12e6-4dae-9041-075ca6892d9b g.chr10:93786488C>T ENST00000265990.6 + 36 5523 c.5215C>T c.(5215-5217)Cgg>Tgg p.R1739W BTAF1_ENST00000544642.1_Missense_Mutation_p.R567W NM_003972.2 NP_003963.1 O14981 BTAF1_HUMAN BTAF1 RNA polymerase II, B-TFIID transcription factor-associated, 170kDa 1739 Helicase C-terminal. negative regulation of transcription, DNA-dependent nucleus ATP binding|DNA binding|helicase activity|sequence-specific DNA binding transcription factor activity central_nervous_system(1)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(17)|lung(17)|ovary(1)|prostate(1)|skin(2)|urinary_tract(6) 59 Colorectal(252;0.0846) AGCCATGGACCGGGCCCATCG 0.468000 39 51 0 0 1 0 0 CLASP2 23122 broad.mit.edu 37 3 33614798 33614798 + Missense_Mutation SNP C C T TCGA-FD-A43N-01A-11D-A23U-08 TCGA-FD-A43N-10A-01D-A23U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7ad967f2-cade-41e1-9aaf-b651ebafb8ef 38660148-12e6-4dae-9041-075ca6892d9b g.chr3:33614798C>T ENST00000399362.4 - 26 2880 c.2527G>A c.(2527-2529)Gat>Aat p.D843N CLASP2_ENST00000307312.7_Missense_Mutation_p.D324N|CLASP2_ENST00000480013.1_Missense_Mutation_p.D623N|CLASP2_ENST00000359576.5_Missense_Mutation_p.D835N|CLASP2_ENST00000539981.1_Missense_Mutation_p.D613N|CLASP2_ENST00000468888.2_Missense_Mutation_p.D844N|CLASP2_ENST00000461133.3_Missense_Mutation_p.D602N NM_015097.2 NP_055912.2 B2RTR1 B2RTR1_HUMAN cytoplasmic linker associated protein 2 844 breast(2)|central_nervous_system(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(19)|ovary(3)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1) 48 TTGGCGTCATCATCTGAATGC 0.393000 62 168 0 0 1 0 0 FRG1B 284802 broad.mit.edu 37 20 29633900 29633900 + Missense_Mutation SNP A A G rs60081496 by1000genomes TCGA-FD-A43N-01A-11D-A23U-08 TCGA-FD-A43N-10A-01D-A23U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7ad967f2-cade-41e1-9aaf-b651ebafb8ef 38660148-12e6-4dae-9041-075ca6892d9b g.chr20:29633900A>G ENST00000278882.3 + 9 919 c.539A>G c.(538-540)gAa>gGa p.E180G FRG1B_ENST00000358464.4_Missense_Mutation_p.E180G p.E180G(2) endometrium(10)|kidney(21)|lung(3)|pancreas(1)|prostate(9)|urinary_tract(9) 53 TAAACAAGAGAACCAAATTGA 0.264000 10 83 0 0 1 0 0 FAT4 79633 broad.mit.edu 37 4 126412578 126412578 + Missense_Mutation SNP G G T TCGA-FD-A43N-01A-11D-A23U-08 TCGA-FD-A43N-10A-01D-A23U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7ad967f2-cade-41e1-9aaf-b651ebafb8ef 38660148-12e6-4dae-9041-075ca6892d9b g.chr4:126412578G>T ENST00000394329.3 + 17 14614 c.14601G>T c.(14599-14601)atG>atT p.M4867I FAT4_ENST00000335110.5_Missense_Mutation_p.M3108I NM_024582.4 NP_078858.4 Q6V0I7 FAT4_HUMAN FAT atypical cadherin 4 4867 homophilic cell adhesion integral to membrane|plasma membrane calcium ion binding NS(6)|autonomic_ganglia(1)|breast(4)|central_nervous_system(3)|cervix(3)|endometrium(27)|haematopoietic_and_lymphoid_tissue(3)|kidney(10)|large_intestine(93)|liver(3)|lung(120)|ovary(9)|pancreas(2)|prostate(21)|skin(31)|stomach(1)|upper_aerodigestive_tract(12)|urinary_tract(6) 355 CTTCCAGAATGCCCAAATTAT 0.458000 20 79 9.7654e-05 9.99518e-05 1 1 0 BHMT2 23743 broad.mit.edu 37 5 78379499 78379499 + Missense_Mutation SNP G G C TCGA-FD-A43N-01A-11D-A23U-08 TCGA-FD-A43N-10A-01D-A23U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7ad967f2-cade-41e1-9aaf-b651ebafb8ef 38660148-12e6-4dae-9041-075ca6892d9b g.chr5:78379499G>C ENST00000255192.3 + 7 896 c.830G>C c.(829-831)aGa>aCa p.R277T DMGDH_ENST00000520388.1_Intron|BHMT2_ENST00000521567.1_Missense_Mutation_p.R213T NM_017614.4 NP_060084.2 Q9H2M3 BHMT2_HUMAN betaine--homocysteine S-methyltransferase 2 277 Hcy-binding. methionine biosynthetic process cytoplasm betaine-homocysteine S-methyltransferase activity|homocysteine S-methyltransferase activity|zinc ion binding endometrium(2)|large_intestine(8)|lung(2)|ovary(1)|skin(1)|urinary_tract(1) 15 all_lung(232;0.00063)|Lung NSC(167;0.00171)|Ovarian(174;0.0261)|Prostate(461;0.191) OV - Ovarian serous cystadenocarcinoma(54;2.09e-45)|Epithelial(54;9.3e-41)|all cancers(79;4.09e-36) L-Methionine(DB00134) AAATACGCCAGAGAGGCCTAC 0.498000 14 81 0 0 1 0 0 SERPINB9 5272 broad.mit.edu 37 6 2893690 2893690 + Silent SNP C C G TCGA-FD-A43N-01A-11D-A23U-08 TCGA-FD-A43N-10A-01D-A23U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7ad967f2-cade-41e1-9aaf-b651ebafb8ef 38660148-12e6-4dae-9041-075ca6892d9b g.chr6:2893690C>G ENST00000380698.4 - 5 611 c.522G>C c.(520-522)ccG>ccC p.P174P NM_004155.5 NP_004146.1 P50453 SPB9_HUMAN serpin peptidase inhibitor, clade B (ovalbumin), member 9 174 anti-apoptosis|cellular response to estrogen stimulus|immune response|mast cell mediated immunity|regulation of proteolysis cytosol|extracellular space|nucleus caspase inhibitor activity|protease binding|serine-type endopeptidase inhibitor activity breast(1)|endometrium(4)|large_intestine(3)|lung(5)|pancreas(1)|prostate(1) 15 Ovarian(93;0.0412) all_hematologic(90;0.108) TTTCGTCAAACGGTTCATTCC 0.403000 19 266 0 0 1 0 0 CORO1B 57175 broad.mit.edu 37 11 67205880 67205880 + Silent SNP C C T TCGA-FD-A43N-01A-11D-A23U-08 TCGA-FD-A43N-10A-01D-A23U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7ad967f2-cade-41e1-9aaf-b651ebafb8ef 38660148-12e6-4dae-9041-075ca6892d9b g.chr11:67205880C>T ENST00000393893.1 - 12 1540 c.1437G>A c.(1435-1437)gaG>gaA p.E479E CORO1B_ENST00000341356.5_Silent_p.E479E|CORO1B_ENST00000539724.1_5'UTR NM_001018070.2 NP_001018080.1 Q9BR76 COR1B_HUMAN coronin, actin binding protein, 1B 479 actin cytoskeleton organization actin cytoskeleton|cytoplasm actin filament binding cervix(1)|endometrium(3)|large_intestine(1)|lung(6)|ovary(1)|prostate(1) 13 BRCA - Breast invasive adenocarcinoma(15;3.26e-06) GGCCCAGCTGCTCCTCCAGGC 0.692000 8 118 0 0 1 0 0 DECR1 1666 broad.mit.edu 37 8 91013751 91013751 + Silent SNP C C T TCGA-FD-A43N-01A-11D-A23U-08 TCGA-FD-A43N-10A-01D-A23U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7ad967f2-cade-41e1-9aaf-b651ebafb8ef 38660148-12e6-4dae-9041-075ca6892d9b g.chr8:91013751C>T ENST00000220764.2 + 1 119 c.31C>T c.(31-33)Ctg>Ttg p.L11L DECR1_ENST00000519007.1_3'UTR|DECR1_ENST00000522161.1_5'UTR NM_001359.1 NP_001350.1 Q16698 DECR_HUMAN 2,4-dienoyl CoA reductase 1, mitochondrial 11 fatty acid beta-oxidation|protein homotetramerization mitochondrial matrix|nucleus|plasma membrane 2,4-dienoyl-CoA reductase (NADPH) activity|NADPH binding|oxidoreductase activity, acting on NADH or NADPH breast(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(4)|ovary(1)|prostate(1)|upper_aerodigestive_tract(2) 15 BRCA - Breast invasive adenocarcinoma(11;0.00953) TTTCTTTACTCTGGGGTCCCG 0.677000 OREG0018857 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 30 56 0 0 1 0 0 ANGPTL1 9068 broad.mit.edu 37 1 178820444 178820444 + Silent SNP G G A TCGA-FD-A43N-01A-11D-A23U-08 TCGA-FD-A43N-10A-01D-A23U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7ad967f2-cade-41e1-9aaf-b651ebafb8ef 38660148-12e6-4dae-9041-075ca6892d9b g.chr1:178820444G>A ENST00000234816.2 - 6 1743 c.1296C>T c.(1294-1296)tgC>tgT p.C432C ANGPTL1_ENST00000367629.1_Silent_p.C432C|RALGPS2_ENST00000367635.3_Intron|RALGPS2_ENST00000367634.2_Intron NM_004673.3 NP_004664.1 O95841 ANGL1_HUMAN angiopoietin-like 1 432 Fibrinogen C-terminal. extracellular space receptor binding breast(2)|endometrium(1)|large_intestine(2)|lung(7)|pancreas(1)|skin(1) 14 GAAAGTGGGCGCAGTTTCCTT 0.388000 13 98 0 0 1 0 0 SLIT2 9353 broad.mit.edu 37 4 20598181 20598181 + Missense_Mutation SNP A A G TCGA-FD-A43N-01A-11D-A23U-08 TCGA-FD-A43N-10A-01D-A23U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7ad967f2-cade-41e1-9aaf-b651ebafb8ef 38660148-12e6-4dae-9041-075ca6892d9b g.chr4:20598181A>G ENST00000504154.1 + 32 3716 c.3464A>G c.(3463-3465)aAg>aGg p.K1155R SLIT2_ENST00000503837.1_Missense_Mutation_p.K1151R|SLIT2_ENST00000273739.5_Missense_Mutation_p.K1168R|SLIT2_ENST00000503823.1_Missense_Mutation_p.K1147R NM_004787.1 NP_004778.1 O94813 SLIT2_HUMAN slit homolog 2 (Drosophila) 1155 EGF-like 6. apoptosis involved in luteolysis|axon extension involved in axon guidance|branching morphogenesis of a tube|cell migration involved in sprouting angiogenesis|cellular response to heparin|cellular response to hormone stimulus|chemorepulsion involved in postnatal olfactory bulb interneuron migration|corticospinal neuron axon guidance through spinal cord|induction of negative chemotaxis|motor axon guidance|negative regulation of actin filament polymerization|negative regulation of cell growth|negative regulation of cellular response to growth factor stimulus|negative regulation of chemokine-mediated signaling pathway|negative regulation of endothelial cell migration|negative regulation of lamellipodium assembly|negative regulation of mononuclear cell migration|negative regulation of neutrophil chemotaxis|negative regulation of protein phosphorylation|negative regulation of retinal ganglion cell axon guidance|negative regulation of small GTPase mediated signal transduction|negative regulation of smooth muscle cell chemotaxis|negative regulation of vascular permeability|positive regulation of apoptosis|positive regulation of axonogenesis|response to cortisol stimulus|retinal ganglion cell axon guidance|Roundabout signaling pathway|ureteric bud development cell surface|cytoplasm|extracellular space|plasma membrane calcium ion binding|GTPase inhibitor activity|heparin binding|laminin-1 binding|protein homodimerization activity|proteoglycan binding|Roundabout binding NS(1)|breast(4)|central_nervous_system(4)|cervix(1)|endometrium(5)|kidney(7)|large_intestine(17)|lung(60)|ovary(3)|pancreas(1)|prostate(2)|skin(10)|upper_aerodigestive_tract(1) 116 CAGGGAGAAAAGTGTGAAAAA 0.403000 24 62 0 0 1 0 0 CCNH 902 broad.mit.edu 37 5 86690819 86690819 + Silent SNP T T C TCGA-FD-A43N-01A-11D-A23U-08 TCGA-FD-A43N-10A-01D-A23U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7ad967f2-cade-41e1-9aaf-b651ebafb8ef 38660148-12e6-4dae-9041-075ca6892d9b g.chr5:86690819T>C ENST00000508855.1 - 7 805 c.753A>G c.(751-753)ttA>ttG p.L251L CCNH_ENST00000504878.1_Intron|CCNH_ENST00000256897.4_Intron P51946 CCNH_HUMAN cyclin H 0 G1 phase of mitotic cell cycle|G1/S transition of mitotic cell cycle|G2/M transition of mitotic cell cycle|mRNA capping|nucleotide-excision repair, DNA damage removal|positive regulation of transcription from RNA polymerase II promoter|positive regulation of viral transcription|protein phosphorylation|regulation of cyclin-dependent protein kinase activity|S phase of mitotic cell cycle|termination of RNA polymerase I transcription|transcription elongation from RNA polymerase I promoter|transcription elongation from RNA polymerase II promoter|transcription initiation from RNA polymerase I promoter|transcription initiation from RNA polymerase II promoter|transcription-coupled nucleotide-excision repair|viral reproduction cyclin-dependent protein kinase activating kinase holoenzyme complex|holo TFIIH complex protein kinase binding breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(3)|liver(1)|lung(2)|ovary(2) 15 all_cancers(142;8.25e-07)|Lung NSC(167;0.000185)|all_lung(232;0.000222)|Colorectal(57;0.00542)|Ovarian(174;0.0423) OV - Ovarian serous cystadenocarcinoma(54;9.01e-39)|Epithelial(54;5.08e-33)|all cancers(79;4.28e-28) CCAGAATGTATAACAAAAATA 0.338000 Direct reversal of damage;Direct reversal of damage;Nucleotide excision repair (NER) 55 137 0 0 1 0 0 KLHL12 59349 broad.mit.edu 37 1 202864796 202864796 + Missense_Mutation SNP C C T TCGA-FD-A43N-01A-11D-A23U-08 TCGA-FD-A43N-10A-01D-A23U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7ad967f2-cade-41e1-9aaf-b651ebafb8ef 38660148-12e6-4dae-9041-075ca6892d9b g.chr1:202864796C>T ENST00000367261.3 - 8 1207 c.989G>A c.(988-990)cGg>cAg p.R330Q KLHL12_ENST00000367259.1_Missense_Mutation_p.R63Q|KLHL12_ENST00000435533.3_Missense_Mutation_p.R368Q NM_021633.2 NP_067646.1 Q53G59 KLH12_HUMAN kelch-like family member 12 330 Wnt receptor signaling pathway protein binding NS(3)|breast(2)|endometrium(1)|large_intestine(1)|lung(6)|stomach(1) 14 BRCA - Breast invasive adenocarcinoma(75;0.166) GACGTAGATCCGGTCATGAAG 0.493000 13 98 0 0 1 0 0 MYL10 93408 broad.mit.edu 37 7 101256983 101256983 + Missense_Mutation SNP C C G TCGA-FD-A43N-01A-11D-A23U-08 TCGA-FD-A43N-10A-01D-A23U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7ad967f2-cade-41e1-9aaf-b651ebafb8ef 38660148-12e6-4dae-9041-075ca6892d9b g.chr7:101256983C>G ENST00000223167.4 - 7 718 c.541G>C c.(541-543)Gaa>Caa p.E181Q NM_138403.4 NP_612412.2 Q9BUA6 MYL10_HUMAN myosin, light chain 10, regulatory 181 EF-hand 2. mitochondrion calcium ion binding breast(1)|kidney(1)|large_intestine(3)|lung(6)|ovary(1) 12 ATAAGTTTTTCTTTGATGCTG 0.562000 45 108 0 0 1 0 0 FAM47B 170062 broad.mit.edu 37 X 34961468 34961468 + Missense_Mutation SNP G G A TCGA-FD-A43N-01A-11D-A23U-08 TCGA-FD-A43N-10A-01D-A23U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7ad967f2-cade-41e1-9aaf-b651ebafb8ef 38660148-12e6-4dae-9041-075ca6892d9b g.chrX:34961468G>A ENST00000329357.5 + 1 556 c.520G>A c.(520-522)Gag>Aag p.E174K NM_152631.2 NP_689844.2 Q8NA70 FA47B_HUMAN family with sequence similarity 47, member B 174 breast(3)|central_nervous_system(3)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(13)|lung(28)|ovary(4)|prostate(3)|skin(2)|upper_aerodigestive_tract(3) 71 GAAGACAACCGAGGTACCCAC 0.607000 12 41 0 0 1 0 0 ZNF598 90850 broad.mit.edu 37 16 2051696 2051696 + Missense_Mutation SNP C C A TCGA-FD-A43N-01A-11D-A23U-08 TCGA-FD-A43N-10A-01D-A23U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7ad967f2-cade-41e1-9aaf-b651ebafb8ef 38660148-12e6-4dae-9041-075ca6892d9b g.chr16:2051696C>A ENST00000563630.1 - 6 978 c.736G>T c.(736-738)Gtt>Ttt p.V246F ZNF598_ENST00000431526.1_Missense_Mutation_p.V301F|ZNF598_ENST00000562103.1_Missense_Mutation_p.V246F Q86UK7 ZN598_HUMAN zinc finger protein 598 301 intracellular zinc ion binding NS(2)|breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|lung(7)|skin(1)|urinary_tract(1) 16 TCGCCACCAACGACCCCTGCG 0.692000 5 34 0.014758 0.0148148 1 1 0 SORCS3 22986 broad.mit.edu 37 10 107005382 107005382 + Missense_Mutation SNP G G A TCGA-FD-A43N-01A-11D-A23U-08 TCGA-FD-A43N-10A-01D-A23U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7ad967f2-cade-41e1-9aaf-b651ebafb8ef 38660148-12e6-4dae-9041-075ca6892d9b g.chr10:107005382G>A ENST00000369701.3 + 21 3178 c.2951G>A c.(2950-2952)gGg>gAg p.G984E SORCS3_ENST00000369699.4_3'UTR NM_014978.1 NP_055793.1 Q9UPU3 SORC3_HUMAN sortilin-related VPS10 domain containing receptor 3 984 integral to membrane neuropeptide receptor activity autonomic_ganglia(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(19)|lung(63)|ovary(6)|pancreas(1)|prostate(6)|skin(8)|stomach(3)|upper_aerodigestive_tract(3)|urinary_tract(2) 131 Colorectal(252;0.134)|Breast(234;0.142)|Lung NSC(174;0.191) Epithelial(162;1.58e-07)|all cancers(201;1.02e-05)|BRCA - Breast invasive adenocarcinoma(275;0.0628) GTGGCTGCTGGGAATGCCCTC 0.483000 31 112 0 0 1 0 0 AHNAK 79026 broad.mit.edu 37 11 62286481 62286481 + Missense_Mutation SNP G G C TCGA-FD-A43N-01A-11D-A23U-08 TCGA-FD-A43N-10A-01D-A23U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7ad967f2-cade-41e1-9aaf-b651ebafb8ef 38660148-12e6-4dae-9041-075ca6892d9b g.chr11:62286481G>C ENST00000378024.4 - 5 15682 c.15408C>G c.(15406-15408)atC>atG p.I5136M AHNAK_ENST00000530124.1_Intron|AHNAK_ENST00000257247.7_Intron NM_001620.1 NP_001611.1 Q09666 AHNK_HUMAN AHNAK nucleoprotein 5136 nervous system development nucleus protein binding NS(3)|autonomic_ganglia(1)|breast(10)|central_nervous_system(5)|endometrium(17)|haematopoietic_and_lymphoid_tissue(2)|kidney(33)|large_intestine(40)|liver(1)|lung(108)|ovary(13)|pancreas(4)|prostate(5)|skin(16)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(6) 268 Melanoma(852;0.155) CCTTCGCCTTGATGTCAAGAC 0.542000 35 67 0 0 1 0 0 NRG1 3084 broad.mit.edu 37 8 32505415 32505415 + Missense_Mutation SNP C C T TCGA-FD-A43N-01A-11D-A23U-08 TCGA-FD-A43N-10A-01D-A23U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7ad967f2-cade-41e1-9aaf-b651ebafb8ef 38660148-12e6-4dae-9041-075ca6892d9b g.chr8:32505415C>T ENST00000520502.2 + 1 179 c.179C>T c.(178-180)gCg>gTg p.A60V NRG1_ENST00000287845.5_Intron|NRG1_ENST00000341377.5_Intron|NRG1_ENST00000523079.1_Intron|NRG1_ENST00000356819.4_Intron|NRG1_ENST00000521670.1_Intron|NRG1_ENST00000338921.4_Intron|NRG1_ENST00000287842.3_Intron|NRG1_ENST00000519301.1_Intron|NRG1_ENST00000405005.3_Intron|NRG1_ENST00000520407.1_Intron NM_013959.3 NP_039253.1 Q02297 NRG1_HUMAN neuregulin 1 0 Ig-like C2-type. activation of transmembrane receptor protein tyrosine kinase activity|anti-apoptosis|cardiac muscle cell differentiation|cell communication|cell proliferation|cellular protein complex disassembly|embryo development|mammary gland development|negative regulation of cardiac muscle cell apoptosis|negative regulation of secretion|negative regulation of transcription, DNA-dependent|nervous system development|neural crest cell development|Notch signaling pathway|positive regulation of cardiac muscle cell proliferation|positive regulation of cell adhesion|positive regulation of cell growth|positive regulation of striated muscle cell differentiation|regulation of protein heterodimerization activity|regulation of protein homodimerization activity|transmembrane receptor protein tyrosine kinase signaling pathway|ventricular cardiac muscle cell differentiation|wound healing apical plasma membrane|extracellular region|extracellular space|integral to membrane|nucleus|plasma membrane cytokine activity|ErbB-3 class receptor binding|growth factor activity|protein binding|protein tyrosine kinase activator activity|receptor tyrosine kinase binding|transcription cofactor activity|transmembrane receptor protein tyrosine kinase activator activity endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|lung(18)|ovary(1)|prostate(1)|skin(1) 39 Breast(100;0.203) KIRC - Kidney renal clear cell carcinoma(67;0.0768)|Kidney(114;0.0943) CCCTGCTGTGCGTGCCTAGAA 0.607000 12 61 0 0 1 0 0 EIF3D 8664 broad.mit.edu 37 22 36919946 36919946 + Missense_Mutation SNP C C T TCGA-FD-A43N-01A-11D-A23U-08 TCGA-FD-A43N-10A-01D-A23U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7ad967f2-cade-41e1-9aaf-b651ebafb8ef 38660148-12e6-4dae-9041-075ca6892d9b g.chr22:36919946C>T ENST00000216190.8 - 5 758 c.388G>A c.(388-390)Gag>Aag p.E130K EIF3D_ENST00000541106.1_Missense_Mutation_p.E81K|EIF3D_ENST00000405442.1_Missense_Mutation_p.E130K NM_003753.3 NP_003744.1 O15371 EIF3D_HUMAN eukaryotic translation initiation factor 3, subunit D 130 cytosol|eukaryotic translation initiation factor 3 complex protein binding|translation initiation factor activity cervix(1)|endometrium(2)|large_intestine(6)|lung(1)|pancreas(1)|prostate(1)|skin(2)|stomach(1) 15 TCTCACCTCTCTTTCTGTTTG 0.507000 28 164 0 0 1 0 0 KCNS1 3787 broad.mit.edu 37 20 43726506 43726506 + Missense_Mutation SNP G G C TCGA-FD-A43N-01A-11D-A23U-08 TCGA-FD-A43N-10A-01D-A23U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7ad967f2-cade-41e1-9aaf-b651ebafb8ef 38660148-12e6-4dae-9041-075ca6892d9b g.chr20:43726506G>C ENST00000306117.1 - 4 1303 c.907C>G c.(907-909)Cac>Gac p.H303D KCNS1_ENST00000537075.1_Missense_Mutation_p.H303D NM_002251.3 NP_002242.2 Q96KK3 KCNS1_HUMAN potassium voltage-gated channel, delayed-rectifier, subfamily S, member 1 303 voltage-gated potassium channel complex delayed rectifier potassium channel activity|potassium channel regulator activity|protein binding endometrium(1)|lung(3)|ovary(1)|stomach(1) 6 Myeloproliferative disorder(115;0.0122) TTGAGCGGGTGGCAGAAGAAG 0.637000 4 40 0 0 1 0 0 FAM71A 149647 broad.mit.edu 37 1 212799048 212799048 + Missense_Mutation SNP G G C TCGA-FD-A43N-01A-11D-A23U-08 TCGA-FD-A43N-10A-01D-A23U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7ad967f2-cade-41e1-9aaf-b651ebafb8ef 38660148-12e6-4dae-9041-075ca6892d9b g.chr1:212799048G>C ENST00000294829.3 + 1 1260 c.829G>C c.(829-831)Gag>Cag p.E277Q RP11-338C15.5_ENST00000427949.1_RNA NM_153606.3 NP_705834.2 Q8IYT1 FA71A_HUMAN family with sequence similarity 71, member A 277 breast(2)|central_nervous_system(1)|cervix(1)|endometrium(3)|large_intestine(7)|liver(1)|lung(12)|ovary(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1) 36 OV - Ovarian serous cystadenocarcinoma(81;0.00631)|all cancers(67;0.00981)|GBM - Glioblastoma multiforme(131;0.0715)|Epithelial(68;0.094) GGGGATTAAAGAGgcagcagc 0.552000 45 129 0 0 1 0 0 PDXDC2P 283970 broad.mit.edu 37 16 70065826 70065826 + RNA SNP T T C rs3169319 by1000genomes TCGA-FD-A43N-01A-11D-A23U-08 TCGA-FD-A43N-10A-01D-A23U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7ad967f2-cade-41e1-9aaf-b651ebafb8ef 38660148-12e6-4dae-9041-075ca6892d9b g.chr16:70065826T>C ENST00000531894.1 - 0 796 NR_003610.1 p.M209V(4) GATCCAAACATAGTGTTACAG 0.453000 7 175 0 0 1 0 0 PTPRZ1 5803 broad.mit.edu 37 7 121682795 121682795 + Missense_Mutation SNP G G A TCGA-FD-A43N-01A-11D-A23U-08 TCGA-FD-A43N-10A-01D-A23U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7ad967f2-cade-41e1-9aaf-b651ebafb8ef 38660148-12e6-4dae-9041-075ca6892d9b g.chr7:121682795G>A ENST00000393386.2 + 22 6346 c.5935G>A c.(5935-5937)Gag>Aag p.E1979K PTPRZ1_ENST00000449182.1_Missense_Mutation_p.E1112K NM_001206838.1|NM_002851.2 NP_001193767.1|NP_002842.2 P23471 PTPRZ_HUMAN protein tyrosine phosphatase, receptor-type, Z polypeptide 1 1979 Tyrosine-protein phosphatase 1. central nervous system development integral to plasma membrane protein binding|protein tyrosine/threonine phosphatase activity|transmembrane receptor protein tyrosine phosphatase activity NS(1)|breast(3)|central_nervous_system(4)|cervix(1)|endometrium(4)|kidney(12)|large_intestine(17)|liver(1)|lung(42)|ovary(4)|prostate(5)|skin(8)|upper_aerodigestive_tract(2)|urinary_tract(2) 106 GGTACAAACTGAGGTATGATT 0.333000 10 131 0 0 1 0 0 ZRANB1 54764 broad.mit.edu 37 10 126655268 126655268 + Missense_Mutation SNP C C G TCGA-FD-A43N-01A-11D-A23U-08 TCGA-FD-A43N-10A-01D-A23U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7ad967f2-cade-41e1-9aaf-b651ebafb8ef 38660148-12e6-4dae-9041-075ca6892d9b g.chr10:126655268C>G ENST00000359653.4 + 2 1291 c.920C>G c.(919-921)tCt>tGt p.S307C NM_017580.2 NP_060050.2 Q9UGI0 ZRAN1_HUMAN zinc finger, RAN-binding domain containing 1 307 positive regulation of Wnt receptor signaling pathway|protein K63-linked deubiquitination|Wnt receptor signaling pathway aggresome|centrosome|intermediate filament cytoskeleton|nucleolus cysteine-type peptidase activity|protein binding|ubiquitin thiolesterase activity|zinc ion binding NS(1)|breast(1)|endometrium(5)|kidney(5)|large_intestine(2)|lung(3)|ovary(2)|prostate(1)|skin(2)|urinary_tract(1) 23 all_lung(145;0.0132)|Lung NSC(174;0.0193)|all_neural(114;0.116)|Colorectal(57;0.172) Colorectal(40;0.113)|COAD - Colon adenocarcinoma(40;0.119) AATCGTCCTTCTGCCTTTGAT 0.453000 20 183 0 0 1 0 0 ZNF671 79891 broad.mit.edu 37 19 58238843 58238843 + Nonsense_Mutation SNP G G T TCGA-FD-A43N-01A-11D-A23U-08 TCGA-FD-A43N-10A-01D-A23U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7ad967f2-cade-41e1-9aaf-b651ebafb8ef 38660148-12e6-4dae-9041-075ca6892d9b g.chr19:58238843G>T ENST00000317398.6 - 1 149 c.54C>A c.(52-54)tgC>tgA p.C18* ZNF671_ENST00000594803.1_5'UTR|ZNF671_ENST00000596939.1_Nonsense_Mutation_p.C18*|AC003006.7_ENST00000599221.1_Intron|AC003006.7_ENST00000594684.1_Intron|ZNF671_ENST00000335820.3_5'UTR NM_024833.2 NP_079109.2 Q8TAW3 ZN671_HUMAN zinc finger protein 671 18 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding kidney(1)|large_intestine(6)|liver(1)|lung(7)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(3) 22 Colorectal(82;0.000256)|all_neural(62;0.0577)|Breast(46;0.147)|Ovarian(87;0.156) UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0257) GGGGACGCAGGCACTTCCGTC 0.682000 11 85 0.00829132 0.00838773 1 1 0 MAPK7 5598 broad.mit.edu 37 17 19284257 19284257 + Silent SNP C C G TCGA-FD-A43N-01A-11D-A23U-08 TCGA-FD-A43N-10A-01D-A23U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7ad967f2-cade-41e1-9aaf-b651ebafb8ef 38660148-12e6-4dae-9041-075ca6892d9b g.chr17:19284257C>G ENST00000308406.5 + 4 1121 c.735C>G c.(733-735)ctC>ctG p.L245L MAPK7_ENST00000571657.1_Intron|MAPK7_ENST00000395602.4_Silent_p.L245L|MAPK7_ENST00000299612.7_Silent_p.L106L|MAPK7_ENST00000395604.3_Silent_p.L245L NM_139033.2 NP_620602.2 Q13164 MK07_HUMAN mitogen-activated protein kinase 7 245 Necessary for oligomerization (By similarity).|Protein kinase. cell cycle|cell differentiation|innate immune response|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|nerve growth factor receptor signaling pathway|stress-activated MAPK cascade|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway cytosol|nucleoplasm ATP binding|MAP kinase activity|protein binding autonomic_ganglia(1)|central_nervous_system(4)|endometrium(5)|kidney(2)|large_intestine(4)|lung(9)|skin(2)|stomach(1)|upper_aerodigestive_tract(2) 30 all_cancers(12;2.87e-05)|all_epithelial(12;0.00114)|Hepatocellular(7;0.00345)|Breast(13;0.206) CTATTGACCTCTGGTCTGTGG 0.542000 47 15 0 0 1 0 0 TSKU 25987 broad.mit.edu 37 11 76507118 76507118 + Missense_Mutation SNP C C T TCGA-FD-A43N-01A-11D-A23U-08 TCGA-FD-A43N-10A-01D-A23U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7ad967f2-cade-41e1-9aaf-b651ebafb8ef 38660148-12e6-4dae-9041-075ca6892d9b g.chr11:76507118C>T ENST00000527881.1 + 2 1484 c.458C>T c.(457-459)aCg>aTg p.T153M TSKU_ENST00000333090.4_Missense_Mutation_p.T153M Q8WUA8 TSK_HUMAN tsukushi, small leucine rich proteoglycan 153 extracellular region NS(1)|large_intestine(4)|lung(6)|urinary_tract(1) 12 Ovarian(111;0.112) GCCTTCACGACGCACAGTCAG 0.657000 31 79 0 0 1 0 0 GALNT7 51809 broad.mit.edu 37 4 174235277 174235277 + Missense_Mutation SNP G G T TCGA-FD-A43N-01A-11D-A23U-08 TCGA-FD-A43N-10A-01D-A23U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7ad967f2-cade-41e1-9aaf-b651ebafb8ef 38660148-12e6-4dae-9041-075ca6892d9b g.chr4:174235277G>T ENST00000265000.4 + 9 1641 c.1558G>T c.(1558-1560)Gat>Tat p.D520Y NM_017423.2 NP_059119.2 Q86SF2 GALT7_HUMAN UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase 7 (GalNAc-T7) 520 protein O-linked glycosylation Golgi membrane|integral to membrane polypeptide N-acetylgalactosaminyltransferase activity|sugar binding central_nervous_system(1)|kidney(3)|large_intestine(5)|liver(1)|lung(9) 19 Prostate(90;0.0132)|Renal(120;0.0183)|Melanoma(52;0.0749)|all_hematologic(60;0.107)|all_neural(102;0.122) all cancers(43;1.87e-18)|Epithelial(43;3.44e-17)|OV - Ovarian serous cystadenocarcinoma(60;2.48e-09)|STAD - Stomach adenocarcinoma(60;0.0019)|GBM - Glioblastoma multiforme(59;0.0119)|LUSC - Lung squamous cell carcinoma(193;0.0199) AATAGCTTATGATATCACCTC 0.398000 41 90 2.2871e-25 2.55099e-25 1 1 0 PANK1 53354 broad.mit.edu 37 10 91348517 91348517 + Silent SNP C C A TCGA-FD-A43N-01A-11D-A23U-08 TCGA-FD-A43N-10A-01D-A23U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7ad967f2-cade-41e1-9aaf-b651ebafb8ef 38660148-12e6-4dae-9041-075ca6892d9b g.chr10:91348517C>A ENST00000307534.4 - 6 1784 c.1629G>T c.(1627-1629)gtG>gtT p.V543V PANK1_ENST00000322191.6_Silent_p.V259V|PANK1_ENST00000371774.2_Silent_p.V345V|PANK1_ENST00000342512.3_Silent_p.V318V NM_148977.2 NP_683878.1 Q8TE04 PANK1_HUMAN pantothenate kinase 1 543 coenzyme A biosynthetic process|pantothenate metabolic process cytosol|nucleus ATP binding|pantothenate kinase activity cervix(1)|kidney(1)|large_intestine(3)|lung(4)|prostate(2) 11 Bezafibrate(DB01393) TTCCAACAAACACAACTCTGT 0.363000 10 156 5.50884e-06 5.72831e-06 1 1 0 DNAH6 1768 broad.mit.edu 37 2 84811350 84811350 + Silent SNP G G C TCGA-FD-A43N-01A-11D-A23U-08 TCGA-FD-A43N-10A-01D-A23U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7ad967f2-cade-41e1-9aaf-b651ebafb8ef 38660148-12e6-4dae-9041-075ca6892d9b g.chr2:84811350G>C ENST00000389394.3 + 15 2594 c.2457G>C c.(2455-2457)gtG>gtC p.V819V DNAH6_ENST00000398278.2_Silent_p.V819V|DNAH6_ENST00000237449.6_Silent_p.V819V NM_001370.1 NP_001361.1 Q9C0G6 DYH6_HUMAN dynein, axonemal, heavy chain 6 819 Stem (By similarity). microtubule-based movement cilium axoneme|cytoplasm|dynein complex|microtubule ATP binding|ATPase activity|microtubule motor activity NS(2)|breast(9)|central_nervous_system(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(3)|lung(14)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(1) 57 ACAACGAAGTGAATGAAGTAA 0.299000 46 84 0 0 1 0 0 SP8 221833 broad.mit.edu 37 7 20825272 20825272 + Missense_Mutation SNP G G A TCGA-FD-A43N-01A-11D-A23U-08 TCGA-FD-A43N-10A-01D-A23U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7ad967f2-cade-41e1-9aaf-b651ebafb8ef 38660148-12e6-4dae-9041-075ca6892d9b g.chr7:20825272G>A ENST00000361443.4 - 3 347 c.110C>T c.(109-111)tCg>tTg p.S37L SP8_ENST00000418710.2_Missense_Mutation_p.S55L NM_198956.2 NP_945194.1 Q8IXZ3 SP8_HUMAN Sp8 transcription factor 37 Ser-rich. regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding NS(1)|central_nervous_system(1)|large_intestine(2)|lung(1)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1) 8 AGAAGAGGACGAGGAGCGTTT 0.632000 8 82 0 0 1 0 0 HLA-A 3105 broad.mit.edu 37 6 29910693 29910693 + Missense_Mutation SNP A A G rs41559716 by1000genomes TCGA-FD-A43N-01A-11D-A23U-08 TCGA-FD-A43N-10A-01D-A23U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7ad967f2-cade-41e1-9aaf-b651ebafb8ef 38660148-12e6-4dae-9041-075ca6892d9b g.chr6:29910693A>G ENST00000396634.1 + 4 574 c.233A>G c.(232-234)cAg>cGg p.Q78R HLA-A_ENST00000376806.5_Missense_Mutation_p.Q78R|HLA-A_ENST00000376802.2_Missense_Mutation_p.Q78R|HLA-A_ENST00000376809.5_Missense_Mutation_p.Q78R P30443 1A01_HUMAN major histocompatibility complex, class I, A 78 Alpha-1. antigen processing and presentation of peptide antigen via MHC class I|interferon-gamma-mediated signaling pathway|interspecies interaction between organisms|regulation of immune response|type I interferon-mediated signaling pathway integral to plasma membrane|MHC class I protein complex MHC class I receptor activity p.Q78R(2) central_nervous_system(2)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(10)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(5)|urinary_tract(2) 30 TGGATAGAGCAGGAGGGGCCG 0.657000 Osteosarcoma, Familial Clustering of;Naso-/Oropharyngeal/Laryngeal Cancer, Familial Clustering of;Melanoma, Familial Clustering of;Lichen Sclerosis et Atrophicus, Familial Clustering of Multiple Myeloma(9;0.094) 11 58 0 0 1 0 0 HOXD3 3232 broad.mit.edu 37 2 177036356 177036356 + Missense_Mutation SNP A A G TCGA-FD-A43N-01A-11D-A23U-08 TCGA-FD-A43N-10A-01D-A23U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7ad967f2-cade-41e1-9aaf-b651ebafb8ef 38660148-12e6-4dae-9041-075ca6892d9b g.chr2:177036356A>G ENST00000468418.3 + 4 2743 c.653A>G c.(652-654)tAc>tGc p.Y218C HOXD3_ENST00000249440.3_Missense_Mutation_p.Y218C|HOXD3_ENST00000410016.1_Missense_Mutation_p.Y218C P31249 HXD3_HUMAN homeobox D3 218 anterior/posterior pattern formation|cartilage development|cell-matrix adhesion|embryonic skeletal system morphogenesis|Notch signaling pathway|positive regulation of gene expression|positive regulation of neuron differentiation|thyroid gland development sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(2)|lung(11)|prostate(1)|upper_aerodigestive_tract(2) 23 OV - Ovarian serous cystadenocarcinoma(117;0.00569)|Epithelial(96;0.0864)|all cancers(119;0.226) Colorectal(32;0.247) TTCAACCGCTACTTGTGCCGG 0.592000 8 104 0 0 1 0 0 ATXN3L 92552 broad.mit.edu 37 X 13338067 13338067 + Translation_Start_Site SNP G G A TCGA-FD-A43N-01A-11D-A23U-08 TCGA-FD-A43N-10A-01D-A23U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7ad967f2-cade-41e1-9aaf-b651ebafb8ef 38660148-12e6-4dae-9041-075ca6892d9b g.chrX:13338067G>A ENST00000380622.2 - 0 451 NM_001135995.1 NP_001129467.1 Q9H3M9 ATX3L_HUMAN ataxin 3-like protein deubiquitination|regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus ubiquitin-specific protease activity endometrium(3)|kidney(1)|large_intestine(6)|lung(12)|ovary(2)|prostate(1)|skin(2)|urinary_tract(1) 28 AATTGTATCCGTGAGTTTCTG 0.418000 6 22 0 0 1 0 0 HIVEP3 59269 broad.mit.edu 37 1 42047774 42047774 + Missense_Mutation SNP C C T TCGA-FD-A43N-01A-11D-A23U-08 TCGA-FD-A43N-10A-01D-A23U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7ad967f2-cade-41e1-9aaf-b651ebafb8ef 38660148-12e6-4dae-9041-075ca6892d9b g.chr1:42047774C>T ENST00000372584.1 - 3 3709 c.2695G>A c.(2695-2697)Gag>Aag p.E899K HIVEP3_ENST00000429157.2_Missense_Mutation_p.E899K|HIVEP3_ENST00000247584.5_Missense_Mutation_p.E899K|HIVEP3_ENST00000372583.1_Missense_Mutation_p.E899K NM_001127714.2 NP_001121186.1 Q5T1R4 ZEP3_HUMAN human immunodeficiency virus type I enhancer binding protein 3 899 No DNA binding activity or transactivation activity, but complete prevention of TRAF-dependent NF-Kappa-B activation; associates with TRAF2 and JUN (By similarity). positive regulation of transcription, DNA-dependent|transcription, DNA-dependent cytoplasm|nucleus zinc ion binding NS(2)|breast(3)|central_nervous_system(5)|endometrium(13)|kidney(3)|large_intestine(13)|lung(33)|ovary(4)|prostate(5)|skin(2)|stomach(1)|upper_aerodigestive_tract(1) 85 Ovarian(52;0.00769)|all_hematologic(146;0.109)|Acute lymphoblastic leukemia(166;0.155) Myeloproliferative disorder(586;0.0367) GGCAGCTTCTCAGCTGGGAGC 0.622000 44 175 0 0 1 0 0 MADD 8567 broad.mit.edu 37 11 47311518 47311518 + Missense_Mutation SNP G G A TCGA-FD-A43N-01A-11D-A23U-08 TCGA-FD-A43N-10A-01D-A23U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7ad967f2-cade-41e1-9aaf-b651ebafb8ef 38660148-12e6-4dae-9041-075ca6892d9b g.chr11:47311518G>A ENST00000342922.4 + 17 3214 c.2857G>A c.(2857-2859)Gag>Aag p.E953K MADD_ENST00000349238.3_Missense_Mutation_p.E973K|MADD_ENST00000395344.3_Missense_Mutation_p.E910K|MADD_ENST00000402192.2_Missense_Mutation_p.E953K|MADD_ENST00000402799.1_Missense_Mutation_p.E910K|MADD_ENST00000406482.1_Missense_Mutation_p.E910K|MADD_ENST00000395336.3_Missense_Mutation_p.E973K|MADD_ENST00000311027.5_Missense_Mutation_p.E973K|MADD_ENST00000407859.3_Missense_Mutation_p.E930K NM_130470.2 NP_569826.2 Q8WXG6 MADD_HUMAN MAP-kinase activating death domain 973 activation of MAPK activity|apoptosis|cell surface receptor linked signaling pathway|regulation of apoptosis|regulation of cell cycle cytoplasm|integral to membrane|plasma membrane death receptor binding|protein kinase activator activity|Rab guanyl-nucleotide exchange factor activity breast(7)|central_nervous_system(2)|endometrium(9)|kidney(3)|large_intestine(19)|lung(26)|ovary(6)|prostate(2)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(2) 84 Lung(87;0.182) GCTGGAGAGCGAGCAGCTGCG 0.607000 45 48 0 0 1 0 0 PIK3CA 5290 broad.mit.edu 37 3 178952085 178952085 + Missense_Mutation SNP A A G rs121913279 TCGA-FD-A43N-01A-11D-A23U-08 TCGA-FD-A43N-10A-01D-A23U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7ad967f2-cade-41e1-9aaf-b651ebafb8ef 38660148-12e6-4dae-9041-075ca6892d9b g.chr3:178952085A>G ENST00000263967.3 + 21 3297 c.3140A>G c.(3139-3141)cAt>cGt p.H1047R NM_006218.2 NP_006209.2 P42336 PK3CA_HUMAN phosphatidylinositol-4,5-bisphosphate 3-kinase, catalytic subunit alpha 1047 PI3K/PI4K. H -> L (in cancer).|H -> R (in KERSEB; shows an increase in lipid kinase activity; oncogenic in vivo; requires binding to p85 regulatory subunit to induce cellular transformation but not interaction with RAS; may mimic the conformatitonal change triggered by the interaction with RAS; enhances invadopodia-mediated extracellular matrix degradation and invasion in breast cancer cells; increases lipid kinase activity; may alter the interaction of the PI3K/ PI4K kinase domain with the cell membrane).|H -> Y (in cancer). epidermal growth factor receptor signaling pathway|fibroblast growth factor receptor signaling pathway|insulin receptor signaling pathway|leukocyte migration|nerve growth factor receptor signaling pathway|phosphatidylinositol-mediated signaling|platelet activation|T cell costimulation|T cell receptor signaling pathway 1-phosphatidylinositol-3-kinase activity|ATP binding|phosphatidylinositol-4,5-bisphosphate 3-kinase activity p.H1047R(1387)|p.H1047L(194)|p.H1047P(1) NS(16)|autonomic_ganglia(4)|biliary_tract(22)|bone(1)|breast(2150)|central_nervous_system(110)|cervix(33)|endometrium(473)|eye(1)|haematopoietic_and_lymphoid_tissue(35)|kidney(14)|large_intestine(1202)|liver(42)|lung(202)|meninges(1)|oesophagus(28)|ovary(235)|pancreas(17)|penis(8)|pituitary(12)|prostate(10)|skin(155)|small_intestine(1)|soft_tissue(18)|stomach(121)|thyroid(80)|upper_aerodigestive_tract(70)|urinary_tract(208) 5269 all_cancers(143;1.19e-17)|Ovarian(172;0.00769)|Breast(254;0.155) OV - Ovarian serous cystadenocarcinoma(80;9.59e-28)|GBM - Glioblastoma multiforme(14;0.003)|BRCA - Breast invasive adenocarcinoma(182;0.0282) AATGATGCACATCATGGTGGC 0.378000 H1047L(EFM19_BREAST)|H1047R(BT20_BREAST)|H1047R(CAL29_URINARY_TRACT)|H1047R(CAL33_UPPER_AERODIGESTIVE_TRACT)|H1047R(DETROIT562_UPPER_AERODIGESTIVE_TRACT)|H1047R(HCC1954_BREAST)|H1047R(HCT116_LARGE_INTESTINE)|H1047R(HSC2_UPPER_AERODIGESTIVE_TRACT)|H1047R(LS180_LARGE_INTESTINE)|H1047R(MCAS_OVARY)|H1047R(MDAMB453_BREAST)|H1047R(NCIH1048_LUNG)|H1047R(RKO_LARGE_INTESTINE)|H1047R(SKOV3_OVARY)|H1047R(T47D_BREAST) 57 Mis """colorectal, gastric, gliobastoma, breast""" HNSCC(19;0.045)|TSP Lung(28;0.18) 18 131 0 0 1 0 0 PLA2G4F 255189 broad.mit.edu 37 15 42436301 42436301 + Missense_Mutation SNP G G A TCGA-FD-A43N-01A-11D-A23U-08 TCGA-FD-A43N-10A-01D-A23U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7ad967f2-cade-41e1-9aaf-b651ebafb8ef 38660148-12e6-4dae-9041-075ca6892d9b g.chr15:42436301G>A ENST00000397272.3 - 18 2114 c.2023C>T c.(2023-2025)Cgg>Tgg p.R675W PLA2G4F_ENST00000382396.4_Missense_Mutation_p.R673W NM_213600.3 NP_998765.3 Q68DD2 PA24F_HUMAN phospholipase A2, group IVF 673 PLA2c. phospholipid catabolic process cytosol|lysosomal membrane metal ion binding|phospholipase A2 activity p.R673R(1) breast(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(3)|liver(1)|lung(12)|ovary(4)|prostate(2)|skin(1)|upper_aerodigestive_tract(1) 32 all_cancers(109;4.82e-12)|all_epithelial(112;5.64e-11)|Lung NSC(122;2.17e-07)|all_lung(180;8.79e-07)|Melanoma(134;0.091) GBM - Glioblastoma multiforme(94;8.97e-07) AGGCAGTCCCGCATGGGGGTG 0.587000 28 114 0 0 1 0 0 UPF2 26019 broad.mit.edu 37 10 12071261 12071261 + Missense_Mutation SNP C C T TCGA-FD-A43N-01A-11D-A23U-08 TCGA-FD-A43N-10A-01D-A23U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7ad967f2-cade-41e1-9aaf-b651ebafb8ef 38660148-12e6-4dae-9041-075ca6892d9b g.chr10:12071261C>T ENST00000356352.2 - 2 1101 c.628G>A c.(628-630)Gtg>Atg p.V210M UPF2_ENST00000357604.5_Missense_Mutation_p.V210M|UPF2_ENST00000397053.2_Missense_Mutation_p.V210M Q9HAU5 RENT2_HUMAN UPF2 regulator of nonsense transcripts homolog (yeast) 210 MIF4G 1. mRNA export from nucleus|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay exon-exon junction complex|perinuclear region of cytoplasm identical protein binding|RNA binding breast(3)|central_nervous_system(3)|cervix(1)|endometrium(5)|kidney(6)|large_intestine(14)|lung(17)|ovary(2)|skin(3)|urinary_tract(2) 56 Renal(717;0.228) TTTGCTTCCACGATGGAAGCT 0.413000 8 185 0 0 1 0 0 SPEN 23013 broad.mit.edu 37 1 16255498 16255498 + Silent SNP G G A TCGA-FD-A43N-01A-11D-A23U-08 TCGA-FD-A43N-10A-01D-A23U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7ad967f2-cade-41e1-9aaf-b651ebafb8ef 38660148-12e6-4dae-9041-075ca6892d9b g.chr1:16255498G>A ENST00000375759.3 + 11 2967 c.2763G>A c.(2761-2763)caG>caA p.Q921Q NM_015001.2 NP_055816.2 Q96T58 MINT_HUMAN spen family transcriptional repressor 921 interspecies interaction between organisms|negative regulation of transcription, DNA-dependent|Notch signaling pathway nucleus nucleotide binding|protein binding|RNA binding NS(1)|breast(13)|central_nervous_system(3)|cervix(5)|endometrium(16)|kidney(18)|large_intestine(27)|liver(2)|lung(37)|ovary(7)|prostate(7)|skin(7)|upper_aerodigestive_tract(5)|urinary_tract(1) 149 Colorectal(325;0.000258)|Breast(348;0.000278)|Lung NSC(340;0.000419)|Renal(390;0.000518)|all_lung(284;0.000567)|Ovarian(437;0.0129)|Myeloproliferative disorder(586;0.0255) UCEC - Uterine corpus endometrioid carcinoma (279;0.0185)|Colorectal(212;5.96e-07)|COAD - Colon adenocarcinoma(227;3.11e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000115)|Kidney(64;0.000212)|KIRC - Kidney renal clear cell carcinoma(64;0.003)|STAD - Stomach adenocarcinoma(313;0.013)|READ - Rectum adenocarcinoma(331;0.0681) AGGTCTCTCAGACGGAGCCTG 0.448000 29 431 0 0 1 0 0 CEL 1056 broad.mit.edu 37 9 135946549 135946549 + Missense_Mutation SNP G G A TCGA-FD-A43N-01A-11D-A23U-08 TCGA-FD-A43N-10A-01D-A23U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7ad967f2-cade-41e1-9aaf-b651ebafb8ef 38660148-12e6-4dae-9041-075ca6892d9b g.chr9:135946549G>A ENST00000372080.4 + 11 1685 c.1669G>A c.(1669-1671)Gac>Aac p.D557N CEL_ENST00000351304.7_Missense_Mutation_p.D488N NM_001807.3 NP_001798.2 P19835 CEL_HUMAN carboxyl ester lipase 554 cholesterol catabolic process|fatty acid catabolic process|intestinal cholesterol absorption|intestinal lipid catabolic process|pancreatic juice secretion|protein esterification cytosol|extracellular space acylglycerol lipase activity|carboxylesterase activity|heparin binding|sterol esterase activity|triglyceride lipase activity NS(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(9)|pancreas(2)|skin(1) 20 OV - Ovarian serous cystadenocarcinoma(145;1.03e-40)|Epithelial(140;3.58e-37)|GBM - Glioblastoma multiforme(294;0.00164)|READ - Rectum adenocarcinoma(205;0.196) CACAGTGACCGACCAGGAGGC 0.677000 3 35 0 0 1 0 0 CBX2 84733 broad.mit.edu 37 17 77758199 77758199 + Silent SNP G G A TCGA-FD-A43N-01A-11D-A23U-08 TCGA-FD-A43N-10A-01D-A23U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7ad967f2-cade-41e1-9aaf-b651ebafb8ef 38660148-12e6-4dae-9041-075ca6892d9b g.chr17:77758199G>A ENST00000310942.4 + 5 1061 c.957G>A c.(955-957)caG>caA p.Q319Q NM_005189.2 NP_005180.1 Q14781 CBX2_HUMAN chromobox homolog 2 319 cell differentiation|chromatin modification|development of primary sexual characteristics|negative regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent PcG protein complex DNA binding breast(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(8)|upper_aerodigestive_tract(1) 16 OV - Ovarian serous cystadenocarcinoma(97;0.0102)|BRCA - Breast invasive adenocarcinoma(99;0.0224) CTGTGGAGCAGAAAGTGGGGA 0.682000 6 44 0 0 1 0 0 DSP 1832 broad.mit.edu 37 6 7580191 7580191 + Silent SNP C C G TCGA-FD-A43N-01A-11D-A23U-08 TCGA-FD-A43N-10A-01D-A23U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7ad967f2-cade-41e1-9aaf-b651ebafb8ef 38660148-12e6-4dae-9041-075ca6892d9b g.chr6:7580191C>G ENST00000379802.3 + 23 4109 c.3768C>G c.(3766-3768)ctC>ctG p.L1256L DSP_ENST00000418664.2_Intron NM_004415.2 NP_004406.2 P15924 DESP_HUMAN desmoplakin 1256 Central fibrous rod domain. cellular component disassembly involved in apoptosis|keratinocyte differentiation|peptide cross-linking cornified envelope|cytoplasm|desmosome protein binding, bridging|structural constituent of cytoskeleton biliary_tract(1)|breast(6)|central_nervous_system(7)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(16)|liver(2)|lung(27)|ovary(4)|prostate(1)|skin(8)|stomach(3)|upper_aerodigestive_tract(7)|urinary_tract(5) 101 Ovarian(93;0.0584) all_hematologic(90;0.236) OV - Ovarian serous cystadenocarcinoma(45;0.000508) TTGTCAGGCTCAATGACAGCA 0.453000 36 144 0 0 1 0 0 MBLAC2 153364 broad.mit.edu 37 5 89757257 89757257 + Silent SNP G G A TCGA-FD-A43N-01A-11D-A23U-08 TCGA-FD-A43N-10A-01D-A23U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7ad967f2-cade-41e1-9aaf-b651ebafb8ef 38660148-12e6-4dae-9041-075ca6892d9b g.chr5:89757257G>A ENST00000316610.6 - 2 1042 c.567C>T c.(565-567)gaC>gaT p.D189D NM_203406.1 NP_981951 Q68D91 MBLC2_HUMAN metallo-beta-lactamase domain containing 2 189 hydrolase activity|metal ion binding kidney(1)|liver(1)|lung(3) 5 CATACACGACGTCTCCACTGA 0.463000 44 116 0 0 1 0 0 DCHS1 8642 broad.mit.edu 37 11 6647218 6647218 + Missense_Mutation SNP C C T TCGA-FD-A43N-01A-11D-A23U-08 TCGA-FD-A43N-10A-01D-A23U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7ad967f2-cade-41e1-9aaf-b651ebafb8ef 38660148-12e6-4dae-9041-075ca6892d9b g.chr11:6647218C>T ENST00000299441.3 - 17 7075 c.6664G>A c.(6664-6666)Gta>Ata p.V2222I NM_003737.2 NP_003728.1 Q96JQ0 PCD16_HUMAN dachsous cadherin-related 1 2222 Cadherin 21. calcium-dependent cell-cell adhesion|homophilic cell adhesion integral to membrane|plasma membrane calcium ion binding breast(3)|central_nervous_system(1)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(4)|kidney(4)|large_intestine(16)|liver(1)|lung(41)|ovary(4)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(6)|urinary_tract(4) 103 Medulloblastoma(188;0.00263)|all_neural(188;0.026) Epithelial(150;6.35e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135) GTTGGGTCTACGTGGAACAAT 0.592000 10 13 0 0 1 0 0 MKI67 4288 broad.mit.edu 37 10 129906877 129906877 + Missense_Mutation SNP A A G TCGA-FD-A43N-01A-11D-A23U-08 TCGA-FD-A43N-10A-01D-A23U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7ad967f2-cade-41e1-9aaf-b651ebafb8ef 38660148-12e6-4dae-9041-075ca6892d9b g.chr10:129906877A>G ENST00000368654.3 - 13 3602 c.3227T>C c.(3226-3228)cTg>cCg p.L1076P MKI67_ENST00000368653.3_Missense_Mutation_p.L716P NM_002417.4 NP_002408.3 P46013 KI67_HUMAN marker of proliferation Ki-67 1076 16 X 122 AA approximate repeats. cell proliferation nucleolus ATP binding|protein C-terminus binding NS(2)|autonomic_ganglia(1)|breast(2)|central_nervous_system(2)|cervix(2)|endometrium(14)|haematopoietic_and_lymphoid_tissue(5)|kidney(7)|large_intestine(30)|lung(64)|ovary(4)|pancreas(1)|prostate(4)|skin(2)|soft_tissue(1)|stomach(10)|upper_aerodigestive_tract(4)|urinary_tract(4) 159 all_epithelial(44;2.12e-05)|all_lung(145;0.00679)|Lung NSC(174;0.00998)|all_neural(114;0.0936)|Colorectal(57;0.14)|Breast(234;0.166)|Melanoma(40;0.203) TGCTGGGTCCAGGATCTGCTT 0.547000 191 275 0 0 1 0 0 TLR9 54106 broad.mit.edu 37 3 52255970 52255970 + Missense_Mutation SNP C C G TCGA-FD-A43N-01A-11D-A23U-08 TCGA-FD-A43N-10A-01D-A23U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7ad967f2-cade-41e1-9aaf-b651ebafb8ef 38660148-12e6-4dae-9041-075ca6892d9b g.chr3:52255970C>G ENST00000597542.1 - 9 3391 c.2434G>C c.(2434-2436)Gtg>Ctg p.V812L TLR9_ENST00000360658.2_Missense_Mutation_p.V788L|TLR9_ENST00000494383.1_Missense_Mutation_p.G941A Q9NR96 TLR9_HUMAN toll-like receptor 9 788 defense response to bacterium|fibroblast growth factor receptor signaling pathway|I-kappaB phosphorylation|inflammatory response|innate immune response|insulin receptor signaling pathway|maintenance of gastrointestinal epithelium|negative regulation of interleukin-6 production|negative regulation of interleukin-8 production|negative regulation of NF-kappaB transcription factor activity|negative regulation of toll-like receptor signaling pathway|positive regulation of chemokine production|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of interferon-alpha biosynthetic process|positive regulation of interferon-beta biosynthetic process|positive regulation of interferon-beta production|positive regulation of interferon-gamma biosynthetic process|positive regulation of interleukin-10 production|positive regulation of interleukin-12 production|positive regulation of interleukin-18 production|positive regulation of interleukin-6 production|positive regulation of interleukin-8 production|positive regulation of JUN kinase activity|positive regulation of NF-kappaB import into nucleus|positive regulation of NF-kappaB transcription factor activity|positive regulation of nitric-oxide synthase biosynthetic process|positive regulation of toll-like receptor signaling pathway|positive regulation of transcription from RNA polymerase II promoter|positive regulation of tumor necrosis factor production|response to molecule of bacterial origin apical plasma membrane|basolateral plasma membrane|early phagosome|endoplasmic reticulum membrane|endosome membrane|extracellular region|integral to membrane|lysosome interleukin-1 receptor binding|siRNA binding|transmembrane receptor activity endometrium(4)|large_intestine(11)|lung(9)|prostate(2)|skin(3)|upper_aerodigestive_tract(1) 30 BRCA - Breast invasive adenocarcinoma(193;2.41e-05)|Kidney(197;0.000537)|KIRC - Kidney renal clear cell carcinoma(197;0.000716) Chloroquine(DB00608) CCACACTTCACCCGGCTGGGC 0.652000 24 39 0 0 1 0 0 DCPS 28960 broad.mit.edu 37 11 126201377 126201377 + Nonsense_Mutation SNP C C T TCGA-FD-A43N-01A-11D-A23U-08 TCGA-FD-A43N-10A-01D-A23U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7ad967f2-cade-41e1-9aaf-b651ebafb8ef 38660148-12e6-4dae-9041-075ca6892d9b g.chr11:126201377C>T ENST00000263579.4 + 3 783 c.454C>T c.(454-456)Cga>Tga p.R152* DCPS_ENST00000530860.1_3'UTR NM_014026.3 NP_054745.1 Q96C86 DCPS_HUMAN decapping enzyme, scavenger 152 deadenylation-dependent decapping of nuclear-transcribed mRNA|exonucleolytic nuclear-transcribed mRNA catabolic process involved in deadenylation-dependent decay|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay cytosol|nucleus exoribonuclease activity|protein binding endometrium(3)|large_intestine(4)|lung(6)|ovary(1)|skin(2)|urinary_tract(1) 17 all_hematologic(175;0.145) Breast(109;0.00156)|Lung NSC(97;0.00949)|all_lung(97;0.0101)|Medulloblastoma(222;0.0425)|all_neural(223;0.0604) BRCA - Breast invasive adenocarcinoma(274;1.15e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.08) CCGCCTGATCCGAGAGACGGG 0.557000 17 132 0 0 1 0 0 TLL2 7093 broad.mit.edu 37 10 98146738 98146738 + Missense_Mutation SNP C C A TCGA-FD-A43N-01A-11D-A23U-08 TCGA-FD-A43N-10A-01D-A23U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7ad967f2-cade-41e1-9aaf-b651ebafb8ef 38660148-12e6-4dae-9041-075ca6892d9b g.chr10:98146738C>A ENST00000357947.3 - 14 2049 c.1824G>T c.(1822-1824)gaG>gaT p.E608D NM_012465.3 NP_036597.1 Q9Y6L7 TLL2_HUMAN tolloid-like 2 608 EGF-like 1; calcium-binding (Potential). cell differentiation|multicellular organismal development|proteolysis extracellular region calcium ion binding|metalloendopeptidase activity|zinc ion binding NS(1)|breast(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(5)|large_intestine(15)|lung(22)|ovary(1)|pancreas(1)|prostate(1)|skin(3) 58 Colorectal(252;0.0846) Epithelial(162;1.51e-07)|all cancers(201;7.59e-06) CGGCGGCCAGCTCGTAGCCAG 0.572000 30 126 1.88708e-17 2.0522e-17 1 1 0 ESR2 2100 broad.mit.edu 37 14 64724049 64724049 + Missense_Mutation SNP C C T rs145661652 TCGA-FD-A43N-01A-11D-A23U-08 TCGA-FD-A43N-10A-01D-A23U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7ad967f2-cade-41e1-9aaf-b651ebafb8ef 38660148-12e6-4dae-9041-075ca6892d9b g.chr14:64724049C>T ENST00000557772.1 - 5 985 c.986G>A c.(985-987)cGg>cAg p.R329Q ESR2_ENST00000353772.3_Missense_Mutation_p.R329Q|ESR2_ENST00000542956.1_Missense_Mutation_p.R329Q|ESR2_ENST00000358599.5_Missense_Mutation_p.R329Q|ESR2_ENST00000553796.1_Missense_Mutation_p.R329Q|ESR2_ENST00000357782.2_Missense_Mutation_p.R329Q|ESR2_ENST00000341099.4_Missense_Mutation_p.R329Q|ESR2_ENST00000555483.1_5'UTR|ESR2_ENST00000554572.1_Missense_Mutation_p.R329Q|ESR2_ENST00000267525.6_Intron|ESR2_ENST00000555278.1_Missense_Mutation_p.R329Q NM_001214903.1 NP_001201832.1 Q92731 ESR2_HUMAN estrogen receptor 2 (ER beta) 329 Steroid-binding. cell-cell signaling|negative regulation of cell growth|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor mitochondrion|nucleoplasm enzyme binding|estrogen receptor activity|receptor antagonist activity|sequence-specific DNA binding transcription factor activity|steroid binding|transcription coactivator activity|zinc ion binding central_nervous_system(2)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(4)|lung(5)|ovary(1)|prostate(1)|skin(3)|stomach(1)|urinary_tract(1) 23 all cancers(60;0.00916)|OV - Ovarian serous cystadenocarcinoma(108;0.0111)|BRCA - Breast invasive adenocarcinoma(234;0.0437) Bicalutamide(DB01128)|Estradiol(DB00783)|Estramustine(DB01196)|Raloxifene(DB00481)|Tamoxifen(DB00675)|Trilostane(DB01108) CTCCAAGAGCCGCACTTGGTC 0.572000 70 139 0 0 1 0 0 SERPINB9 5272 broad.mit.edu 37 6 2893699 2893699 + Missense_Mutation SNP C C G TCGA-FD-A43N-01A-11D-A23U-08 TCGA-FD-A43N-10A-01D-A23U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7ad967f2-cade-41e1-9aaf-b651ebafb8ef 38660148-12e6-4dae-9041-075ca6892d9b g.chr6:2893699C>G ENST00000380698.4 - 5 602 c.513G>C c.(511-513)tgG>tgC p.W171C NM_004155.5 NP_004146.1 P50453 SPB9_HUMAN serpin peptidase inhibitor, clade B (ovalbumin), member 9 171 anti-apoptosis|cellular response to estrogen stimulus|immune response|mast cell mediated immunity|regulation of proteolysis cytosol|extracellular space|nucleus caspase inhibitor activity|protease binding|serine-type endopeptidase inhibitor activity breast(1)|endometrium(4)|large_intestine(3)|lung(5)|pancreas(1)|prostate(1) 15 Ovarian(93;0.0412) all_hematologic(90;0.108) ACGGTTCATTCCACTTTCCTT 0.398000 16 260 0 0 1 0 0 CNTD2 79935 broad.mit.edu 37 19 40732354 40732354 + Silent SNP C C A TCGA-FD-A43N-01A-11D-A23U-08 TCGA-FD-A43N-10A-01D-A23U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7ad967f2-cade-41e1-9aaf-b651ebafb8ef 38660148-12e6-4dae-9041-075ca6892d9b g.chr19:40732354C>A ENST00000430325.2 - 1 243 c.195G>T c.(193-195)ctG>ctT p.L65L CNTD2_ENST00000433940.1_Silent_p.L65L NM_024877.3 NP_079153.2 B4DX65 B4DX65_HUMAN cyclin N-terminal domain containing 2 65 regulation of cyclin-dependent protein kinase activity protein kinase binding lung(1)|prostate(1) 2 GCGCCTCCTCCAGCCCCGGCG 0.726000 10 35 2.17888e-05 2.23893e-05 1 1 0 KIAA1377 57562 broad.mit.edu 37 11 101833798 101833798 + Missense_Mutation SNP A A G TCGA-FD-A43N-01A-11D-A23U-08 TCGA-FD-A43N-10A-01D-A23U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7ad967f2-cade-41e1-9aaf-b651ebafb8ef 38660148-12e6-4dae-9041-075ca6892d9b g.chr11:101833798A>G ENST00000263468.8 + 6 2302 c.2032A>G c.(2032-2034)Act>Gct p.T678A KIAA1377_ENST00000537689.1_Missense_Mutation_p.T479A NM_020802.2 NP_065853.2 Q9P2H0 K1377_HUMAN KIAA1377 678 protein binding breast(4)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(12)|lung(18)|ovary(1)|prostate(4)|skin(3)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(2) 53 all_epithelial(12;0.0104) Acute lymphoblastic leukemia(157;0.000967)|all_hematologic(158;0.00931) BRCA - Breast invasive adenocarcinoma(274;0.038) TAGTGTTTCTACTTGTGCTGT 0.388000 73 108 0 0 1 0 0 BCKDHA 593 broad.mit.edu 37 19 41903836 41903836 + Missense_Mutation SNP G G T TCGA-FD-A43N-01A-11D-A23U-08 TCGA-FD-A43N-10A-01D-A23U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7ad967f2-cade-41e1-9aaf-b651ebafb8ef 38660148-12e6-4dae-9041-075ca6892d9b g.chr19:41903836G>T ENST00000269980.2 + 1 472 c.104G>T c.(103-105)aGa>aTa p.R35I CTC-435M10.3_ENST00000604424.1_Intron|CTC-435M10.3_ENST00000540732.1_Intron|BCKDHA_ENST00000595085.1_Intron|BCKDHA_ENST00000457836.2_Intron NM_000709.3|NM_001164783.1 NP_000700.1|NP_001158255.1 P12694 ODBA_HUMAN branched chain keto acid dehydrogenase E1, alpha polypeptide 35 branched chain family amino acid catabolic process mitochondrial alpha-ketoglutarate dehydrogenase complex 3-methyl-2-oxobutanoate dehydrogenase (2-methylpropanoyl-transferring) activity|alpha-ketoacid dehydrogenase activity|carboxy-lyase activity|metal ion binding|protein binding central_nervous_system(1)|kidney(1)|large_intestine(3)|lung(4)|prostate(1) 10 GGACTGGCTAGATCTGTGAGT 0.612000 6 59 0.0215528 0.0215528 1 1 0 ZC3H14 79882 broad.mit.edu 37 14 89073637 89073637 + Missense_Mutation SNP C C T TCGA-FD-A43N-01A-11D-A23U-08 TCGA-FD-A43N-10A-01D-A23U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7ad967f2-cade-41e1-9aaf-b651ebafb8ef 38660148-12e6-4dae-9041-075ca6892d9b g.chr14:89073637C>T ENST00000251038.5 + 13 2023 c.1798C>T c.(1798-1800)Cgc>Tgc p.R600C ZC3H14_ENST00000393514.5_Missense_Mutation_p.R575C|ZC3H14_ENST00000359301.3_Missense_Mutation_p.R435C|ZC3H14_ENST00000555900.1_Missense_Mutation_p.R302C|ZC3H14_ENST00000556945.1_Missense_Mutation_p.R469C|ZC3H14_ENST00000318308.6_Missense_Mutation_p.R171C|ZC3H14_ENST00000336693.4_Missense_Mutation_p.R435C|ZC3H14_ENST00000406216.3_Missense_Mutation_p.R146C|ZC3H14_ENST00000557607.1_Missense_Mutation_p.R289C|ZC3H14_ENST00000302216.8_Missense_Mutation_p.R444C|ZC3H14_ENST00000555755.1_Missense_Mutation_p.R595C NM_001160103.1|NM_001160104.1|NM_024824.4 NP_001153575.1|NP_001153576.1|NP_079100.2 Q6PJT7 ZC3HE_HUMAN zinc finger CCCH-type containing 14 600 cytoplasm|nuclear speck protein binding|RNA binding|zinc ion binding cervix(2)|endometrium(3)|kidney(2)|large_intestine(3)|lung(6)|ovary(2)|prostate(1)|skin(2) 21 ACTTTTGGAGCGCTGCAAGTA 0.458000 23 91 0 0 1 0 0 CCDC28A 25901 broad.mit.edu 37 6 139094892 139094892 + Silent SNP C C G rs77696415 TCGA-FD-A43N-01A-11D-A23U-08 TCGA-FD-A43N-10A-01D-A23U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7ad967f2-cade-41e1-9aaf-b651ebafb8ef 38660148-12e6-4dae-9041-075ca6892d9b g.chr6:139094892C>G ENST00000332797.6 + 1 236 c.81C>G c.(79-81)ctC>ctG p.L27L NM_015439.2 NP_056254.1 Q8IWP9 CC28A_HUMAN coiled-coil domain containing 28A 27 autonomic_ganglia(1)|large_intestine(3)|lung(8)|ovary(1) 13 OV - Ovarian serous cystadenocarcinoma(155;0.000201)|GBM - Glioblastoma multiforme(68;0.000306) GGCTGTACCTCTTACGTCACT 0.637000 85 203 0 0 1 0 0 TUBB 203068 broad.mit.edu 37 6 30690399 30690399 + Missense_Mutation SNP C C T TCGA-FD-A43N-01A-11D-A23U-08 TCGA-FD-A43N-10A-01D-A23U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7ad967f2-cade-41e1-9aaf-b651ebafb8ef 38660148-12e6-4dae-9041-075ca6892d9b g.chr6:30690399C>T ENST00000396389.1 + 2 682 c.89C>T c.(88-90)tCt>tTt p.S30F TUBB_ENST00000435534.1_Missense_Mutation_p.S48F|TUBB_ENST00000327892.8_Missense_Mutation_p.S48F|TUBB_ENST00000330914.3_5'UTR|TUBB_ENST00000396384.1_5'UTR P07437 TBB5_HUMAN tubulin, beta class I 48 cellular component movement|G2/M transition of mitotic cell cycle|microtubule-based movement|natural killer cell mediated cytotoxicity|protein polymerization cytosol|microtubule GTP binding|GTPase activity|MHC class I protein binding breast(1)|endometrium(1)|kidney(8)|large_intestine(3)|lung(1)|ovary(1)|urinary_tract(1) 16 Colchicine(DB01394)|Vinblastine(DB00570)|Vincristine(DB00541)|Vinorelbine(DB00361) GACCGCATCTCTGTGTACTAC 0.597000 14 97 0 0 1 0 0 CSNK1A1 1452 broad.mit.edu 37 5 148930436 148930436 + Missense_Mutation SNP A A T TCGA-FD-A43N-01A-11D-A23U-08 TCGA-FD-A43N-10A-01D-A23U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7ad967f2-cade-41e1-9aaf-b651ebafb8ef 38660148-12e6-4dae-9041-075ca6892d9b g.chr5:148930436A>T ENST00000261798.5 - 1 524 c.92T>A c.(91-93)aTc>aAc p.I31N CSNK1A1_ENST00000377843.2_Missense_Mutation_p.I31N|CSNK1A1_ENST00000515748.2_Missense_Mutation_p.I31N|CSNK1A1_ENST00000515768.1_Missense_Mutation_p.I31N NM_001271741.1 NP_001258670.1 P48729 KC1A_HUMAN casein kinase 1, alpha 1 31 Protein kinase. cell division|mitosis|Wnt receptor signaling pathway centrosome|condensed chromosome kinetochore|cytosol|nuclear speck ATP binding|protein binding|protein serine/threonine kinase activity breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(2)|lung(4) 14 KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191) GBM - Glioblastoma multiforme(465;0.0407) CGCCAAATAGATGTCCCCGAA 0.542000 66 82 0 0 1 0 0 UHRF1BP1L 23074 broad.mit.edu 37 12 100452655 100452655 + Silent SNP C C G rs148366892 TCGA-FD-A43N-01A-11D-A23U-08 TCGA-FD-A43N-10A-01D-A23U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7ad967f2-cade-41e1-9aaf-b651ebafb8ef 38660148-12e6-4dae-9041-075ca6892d9b g.chr12:100452655C>G ENST00000279907.7 - 14 2612 c.2400G>C c.(2398-2400)tcG>tcC p.S800S UHRF1BP1L_ENST00000545232.2_Silent_p.S450S NM_015054.1 NP_055869.1 A0JNW5 UH1BL_HUMAN UHRF1 binding protein 1-like 800 p.S800S(1) breast(3)|central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(5)|large_intestine(9)|lung(21)|ovary(3)|skin(1)|upper_aerodigestive_tract(1) 50 CTGCCTCTGACGAGGAAGGGG 0.403000 25 159 0 0 1 0 0 GPR124 25960 broad.mit.edu 37 8 37693174 37693174 + Missense_Mutation SNP C C T TCGA-FD-A43N-01A-11D-A23U-08 TCGA-FD-A43N-10A-01D-A23U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7ad967f2-cade-41e1-9aaf-b651ebafb8ef 38660148-12e6-4dae-9041-075ca6892d9b g.chr8:37693174C>T ENST00000412232.2 + 13 1949 c.1936C>T c.(1936-1938)Ctc>Ttc p.L646F GPR124_ENST00000315215.7_Intron NM_032777.9 NP_116166.9 Q96PE1 GP124_HUMAN G protein-coupled receptor 124 646 central nervous system development|endothelial cell migration|neuropeptide signaling pathway|regulation of angiogenesis|regulation of chemotaxis|sprouting angiogenesis integral to membrane|plasma membrane G-protein coupled receptor activity central_nervous_system(1)|endometrium(5)|kidney(3)|large_intestine(4)|lung(16)|ovary(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(1) 37 BRCA - Breast invasive adenocarcinoma(5;2.75e-24)|LUSC - Lung squamous cell carcinoma(8;3.5e-10) CCTGCAACTGCTCGTCTTCCG 0.682000 80 56 0 0 1 0 0 NACA2 342538 broad.mit.edu 37 17 59668448 59668448 + Missense_Mutation SNP C C A TCGA-FD-A43N-01A-11D-A23U-08 TCGA-FD-A43N-10A-01D-A23U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7ad967f2-cade-41e1-9aaf-b651ebafb8ef 38660148-12e6-4dae-9041-075ca6892d9b g.chr17:59668448C>A ENST00000521764.1 - 1 115 c.94G>T c.(94-96)Ggt>Tgt p.G32C NM_199290.3 NP_954984.1 Q9H009 NACA2_HUMAN nascent polypeptide-associated complex alpha subunit 2 32 protein transport cytoplasm|nucleus large_intestine(1)|lung(5)|ovary(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1) 12 all_epithelial(1;3.12e-14) ACTGATTCACCACTATCAGAT 0.547000 64 91 1.53122e-18 1.67919e-18 1 1 0 TMPRSS15 5651 broad.mit.edu 37 21 19651287 19651287 + Missense_Mutation SNP A A G TCGA-FD-A43N-01A-11D-A23U-08 TCGA-FD-A43N-10A-01D-A23U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7ad967f2-cade-41e1-9aaf-b651ebafb8ef 38660148-12e6-4dae-9041-075ca6892d9b g.chr21:19651287A>G ENST00000284885.3 - 23 2791 c.2758T>C c.(2758-2760)Tat>Cat p.Y920H NM_002772.2 NP_002763 P98073 ENTK_HUMAN transmembrane protease, serine 15 920 Peptidase S1. proteolysis brush border|integral to membrane scavenger receptor activity|serine-type endopeptidase activity NS(1)|breast(2)|cervix(1)|endometrium(4)|kidney(7)|large_intestine(19)|lung(36)|ovary(6)|prostate(3)|skin(5)|upper_aerodigestive_tract(1) 85 TTACCTTGATATACAACCGTC 0.323000 20 37 0 0 1 0 0 SPTAN1 6709 broad.mit.edu 37 9 131339209 131339209 + Silent SNP G G T TCGA-FD-A43N-01A-11D-A23U-08 TCGA-FD-A43N-10A-01D-A23U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7ad967f2-cade-41e1-9aaf-b651ebafb8ef 38660148-12e6-4dae-9041-075ca6892d9b g.chr9:131339209G>T ENST00000372739.3 + 6 869 c.759G>T c.(757-759)ggG>ggT p.G253G SPTAN1_ENST00000372731.4_Silent_p.G253G|SPTAN1_ENST00000358161.5_Silent_p.G253G NM_001130438.2 NP_001123910.1 Q13813 SPTA2_HUMAN spectrin, alpha, non-erythrocytic 1 253 actin filament capping|axon guidance|cellular component disassembly involved in apoptosis cytosol|intracellular membrane-bounded organelle|membrane fraction|microtubule cytoskeleton|spectrin actin binding|calcium ion binding|calmodulin binding|structural constituent of cytoskeleton NS(2)|breast(8)|cervix(2)|endometrium(6)|kidney(4)|large_intestine(21)|liver(1)|lung(25)|ovary(5)|pancreas(1)|prostate(4)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2) 87 AGCTCTTTGGGGCAGCAGAAG 0.572000 28 47 3.73988e-18 4.08414e-18 1 1 0 DHX15 1665 broad.mit.edu 37 4 24529573 24529573 + Missense_Mutation SNP G G C TCGA-FD-A43N-01A-11D-A23U-08 TCGA-FD-A43N-10A-01D-A23U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7ad967f2-cade-41e1-9aaf-b651ebafb8ef 38660148-12e6-4dae-9041-075ca6892d9b g.chr4:24529573G>C ENST00000336812.4 - 14 2518 c.2362C>G c.(2362-2364)Caa>Gaa p.Q788E DHX15_ENST00000508032.1_5'UTR NM_001358.2 NP_001349.2 O43143 DHX15_HUMAN DEAH (Asp-Glu-Ala-His) box helicase 15 788 KLQSKEYSQY -> QTSIQGIFTVLNSVLRTEVIERTALKD E (in Ref. 1; BAA23987). mRNA processing U12-type spliceosomal complex ATP binding|ATP-dependent helicase activity|nucleic acid binding|RNA helicase activity breast(4)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(5)|liver(1)|lung(6)|ovary(1)|upper_aerodigestive_tract(1) 30 Breast(46;0.0503) TCCTTGGATTGAAGTTTGGCA 0.393000 8 95 0 0 1 0 0 LAMP1 3916 broad.mit.edu 37 13 113975984 113975984 + Silent SNP C C G TCGA-FD-A43N-01A-11D-A23U-08 TCGA-FD-A43N-10A-01D-A23U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7ad967f2-cade-41e1-9aaf-b651ebafb8ef 38660148-12e6-4dae-9041-075ca6892d9b g.chr13:113975984C>G ENST00000332556.4 + 8 1250 c.1056C>G c.(1054-1056)gtC>gtG p.V352V LAMP1_ENST00000397181.3_Silent_p.V299V NM_005561.3 NP_005552.3 P11279 LAMP1_HUMAN lysosomal-associated membrane protein 1 352 Second lumenal domain. endosome membrane|integral to plasma membrane|lysosomal membrane|membrane fraction NS(1)|central_nervous_system(2)|endometrium(3)|large_intestine(4)|lung(2)|prostate(1)|skin(1)|stomach(2) 16 Lung NSC(43;0.0161)|all_neural(89;0.0804)|Hepatocellular(20;0.0877)|Medulloblastoma(90;0.163)|Lung SC(71;0.218) all_cancers(25;0.0482)|all_epithelial(44;0.0148)|all_lung(25;0.0271)|Lung NSC(25;0.0977)|Breast(118;0.188) all cancers(43;0.025)|GBM - Glioblastoma multiforme(44;0.206)|Epithelial(84;0.246) CGTTTTCAGTCAATATATTCA 0.592000 29 120 0 0 1 0 0 F8 2157 broad.mit.edu 37 X 154090123 154090123 + Missense_Mutation SNP C C A TCGA-FD-A43N-01A-11D-A23U-08 TCGA-FD-A43N-10A-01D-A23U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7ad967f2-cade-41e1-9aaf-b651ebafb8ef 38660148-12e6-4dae-9041-075ca6892d9b g.chrX:154090123C>A ENST00000360256.4 - 24 6793 c.6593G>T c.(6592-6594)gGa>gTa p.G2198V F8_ENST00000330287.6_Missense_Mutation_p.G63V NM_000132.3 NP_000123.1 P00451 FA8_HUMAN coagulation factor VIII, procoagulant component 2198 F5/8 type C 2. G -> V (in HEMA; severe sporadic). acute-phase response|blood coagulation, intrinsic pathway|cell adhesion|platelet activation|platelet degranulation extracellular space|plasma membrane|platelet alpha granule lumen copper ion binding|oxidoreductase activity|protein binding NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(3)|kidney(6)|large_intestine(27)|liver(1)|lung(47)|ovary(5)|pancreas(3)|prostate(1)|skin(5)|upper_aerodigestive_tract(5)|urinary_tract(2) 120 all_cancers(53;7.19e-17)|all_epithelial(53;9.83e-11)|all_lung(58;6.63e-07)|Lung NSC(58;2.08e-06)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176)|Renal(33;0.214) Antihemophilic Factor(DB00025)|Coagulation Factor IX(DB00100)|Drotrecogin alfa(DB00055) ACTCTCCATTCCCAATGGCAT 0.423000 112 33 7.21145e-53 8.25522e-53 1 1 0 CCM2 83605 broad.mit.edu 37 7 45108134 45108134 + Missense_Mutation SNP C C G TCGA-FD-A43N-01A-11D-A23U-08 TCGA-FD-A43N-10A-01D-A23U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7ad967f2-cade-41e1-9aaf-b651ebafb8ef 38660148-12e6-4dae-9041-075ca6892d9b g.chr7:45108134C>G ENST00000475551.1 + 5 1307 c.547C>G c.(547-549)Ccc>Gcc p.P183A CCM2_ENST00000258781.6_Missense_Mutation_p.P189A|CCM2_ENST00000461377.1_3'UTR|CCM2_ENST00000474617.1_Intron|CCM2_ENST00000541586.1_Missense_Mutation_p.P131A|CCM2_ENST00000544363.1_Intron|CCM2_ENST00000381112.3_Missense_Mutation_p.P210A Q9BSQ5 CCM2_HUMAN cerebral cavernous malformation 2 189 PID. endothelial tube morphogenesis|integrin-mediated signaling pathway|stress-activated MAPK cascade|vasculogenesis cytoplasm protein binding NS(1)|endometrium(3)|large_intestine(2)|lung(9)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1) 19 TGCAGTTGGGCCCGTGGAGGC 0.617000 43 90 0 0 1 0 0 NES 10763 broad.mit.edu 37 1 156640882 156640882 + Missense_Mutation SNP C C T TCGA-FD-A43N-01A-11D-A23U-08 TCGA-FD-A43N-10A-01D-A23U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7ad967f2-cade-41e1-9aaf-b651ebafb8ef 38660148-12e6-4dae-9041-075ca6892d9b g.chr1:156640882C>T ENST00000368223.3 - 4 3230 c.3098G>A c.(3097-3099)gGa>gAa p.G1033E NM_006617.1 NP_006608.1 P48681 NEST_HUMAN nestin 1033 Tail. brain development|embryonic camera-type eye development|G2/M transition of mitotic cell cycle|negative regulation of apoptosis|positive regulation of intermediate filament depolymerization|positive regulation of neural precursor cell proliferation|stem cell proliferation cytoplasm|intermediate filament intermediate filament binding|structural molecule activity central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|lung(30)|ovary(6)|prostate(1)|skin(3)|stomach(1)|urinary_tract(4) 64 all_hematologic(923;0.088)|Hepatocellular(266;0.158) CTCAGCCCCTCCCTTCACACT 0.667000 44 363 0 0 1 0 0 NRG3 10718 broad.mit.edu 37 10 84745188 84745188 + Missense_Mutation SNP A A T TCGA-FD-A43N-01A-11D-A23U-08 TCGA-FD-A43N-10A-01D-A23U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7ad967f2-cade-41e1-9aaf-b651ebafb8ef 38660148-12e6-4dae-9041-075ca6892d9b g.chr10:84745188A>T ENST00000372142.2 + 11 1601 c.1327A>T c.(1327-1329)Att>Ttt p.I443F NRG3_ENST00000556918.1_Missense_Mutation_p.I470F|NRG3_ENST00000537893.1_Missense_Mutation_p.I290F|NRG3_ENST00000545131.1_Missense_Mutation_p.I290F|NRG3_ENST00000404547.1_Missense_Mutation_p.I664F|NRG3_ENST00000372141.2_Missense_Mutation_p.I640F|NRG3_ENST00000404576.2_Missense_Mutation_p.I444F NM_001165973.1 NP_001159445.1 P56975 NRG3_HUMAN neuregulin 3 664 regulation of cell growth extracellular region|integral to plasma membrane growth factor activity|receptor tyrosine kinase binding|transmembrane receptor protein tyrosine kinase activator activity breast(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|lung(41)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(2) 69 GBM - Glioblastoma multiforme(1;2.5e-18)|all cancers(1;2.85e-09) GCAGATCCGAATTCTGACTGA 0.483000 9 176 0 0 1 0 0 EPHX1 2052 broad.mit.edu 37 1 226032929 226032929 + Missense_Mutation SNP T T C TCGA-FD-A43N-01A-11D-A23U-08 TCGA-FD-A43N-10A-01D-A23U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7ad967f2-cade-41e1-9aaf-b651ebafb8ef 38660148-12e6-4dae-9041-075ca6892d9b g.chr1:226032929T>C ENST00000366837.4 + 9 1445 c.1249T>C c.(1249-1251)Tac>Cac p.Y417H EPHX1_ENST00000272167.5_Missense_Mutation_p.Y417H|RP11-285F7.2_ENST00000424332.1_RNA NM_000120.3 NP_000111.1 P07099 HYEP_HUMAN epoxide hydrolase 1, microsomal (xenobiotic) 417 aromatic compound catabolic process|response to toxin endoplasmic reticulum membrane|integral to membrane|microsome cis-stilbene-oxide hydrolase activity|epoxide hydrolase activity endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(6)|lung(7)|ovary(3)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1) 28 Breast(184;0.197) GAGGTTCAAGTACCCAAAGCT 0.552000 28 125 0 0 1 0 0 ASCC3 10973 broad.mit.edu 37 6 100964128 100964128 + Missense_Mutation SNP A A C TCGA-FD-A43N-01A-11D-A23U-08 TCGA-FD-A43N-10A-01D-A23U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7ad967f2-cade-41e1-9aaf-b651ebafb8ef 38660148-12e6-4dae-9041-075ca6892d9b g.chr6:100964128A>C ENST00000369162.2 - 39 6347 c.6003T>G c.(6001-6003)caT>caG p.H2001Q NM_006828.2 NP_006819.2 Q8N3C0 HELC1_HUMAN activating signal cointegrator 1 complex subunit 3 2001 regulation of transcription, DNA-dependent|transcription, DNA-dependent cytoplasm|microtubule cytoskeleton ATP binding|ATP-dependent helicase activity|nucleic acid binding breast(4)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(20)|liver(1)|lung(36)|ovary(6)|prostate(4)|skin(3)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(2) 92 all_cancers(76;1.45e-07)|Acute lymphoblastic leukemia(125;4.99e-11)|all_hematologic(75;5.82e-08)|all_epithelial(87;0.00149)|Hepatocellular(1;0.0893)|Colorectal(196;0.13) BRCA - Breast invasive adenocarcinoma(108;0.0539)|all cancers(137;0.103)|GBM - Glioblastoma multiforme(226;0.199) CTCCACAGGCATGGATCAGTT 0.458000 24 157 0 0 1 0 0 DSG2 1829 broad.mit.edu 37 18 29116217 29116217 + Missense_Mutation SNP C C G TCGA-FD-A43N-01A-11D-A23U-08 TCGA-FD-A43N-10A-01D-A23U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7ad967f2-cade-41e1-9aaf-b651ebafb8ef 38660148-12e6-4dae-9041-075ca6892d9b g.chr18:29116217C>G ENST00000261590.8 + 11 1685 c.1476C>G c.(1474-1476)atC>atG p.I492M NM_001943.3 NP_001934.2 Q14126 DSG2_HUMAN desmoglein 2 492 Cadherin 4. cellular component disassembly involved in apoptosis|homophilic cell adhesion desmosome|integral to membrane calcium ion binding breast(2)|central_nervous_system(6)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(5)|lung(17)|ovary(2)|prostate(4)|skin(2)|urinary_tract(1) 49 OV - Ovarian serous cystadenocarcinoma(10;0.0068) TTGAAGACATCAACGACAACT 0.413000 6 79 0 0 1 0 0 MMP13 4322 broad.mit.edu 37 11 102818648 102818648 + Missense_Mutation SNP G G C TCGA-FD-A43N-01A-11D-A23U-08 TCGA-FD-A43N-10A-01D-A23U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7ad967f2-cade-41e1-9aaf-b651ebafb8ef 38660148-12e6-4dae-9041-075ca6892d9b g.chr11:102818648G>C ENST00000260302.3 - 8 1211 c.1183C>G c.(1183-1185)Ctc>Gtc p.L395V MMP13_ENST00000340273.4_Missense_Mutation_p.L395V NM_002427.3 NP_002418.1 P45452 MMP13_HUMAN matrix metallopeptidase 13 (collagenase 3) 395 Hemopexin-like 3. collagen catabolic process|proteolysis extracellular space metalloendopeptidase activity|zinc ion binding NS(1)|breast(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(15)|ovary(2)|skin(1)|stomach(1) 27 all_hematologic(158;0.00092)|Acute lymphoblastic leukemia(157;0.000967) BRCA - Breast invasive adenocarcinoma(274;0.0144) GAGAACAGGAGAGTCTTGCCT 0.443000 14 111 0 0 1 0 0 SCAPER 49855 broad.mit.edu 37 15 77092648 77092648 + Silent SNP T T C TCGA-FD-A43N-01A-11D-A23U-08 TCGA-FD-A43N-10A-01D-A23U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7ad967f2-cade-41e1-9aaf-b651ebafb8ef 38660148-12e6-4dae-9041-075ca6892d9b g.chr15:77092648T>C ENST00000563290.1 - 7 647 c.552A>G c.(550-552)ccA>ccG p.P184P SCAPER_ENST00000324767.7_Silent_p.P184P|SCAPER_ENST00000538941.2_5'UTR Q9BY12 SCAPE_HUMAN S-phase cyclin A-associated protein in the ER 183 endoplasmic reticulum|nucleus zinc ion binding NS(1)|breast(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(8)|lung(16)|ovary(2)|prostate(2)|skin(1)|urinary_tract(2) 39 TTGATGGACTTGGAATCACAT 0.353000 45 41 0 0 1 0 0 AHNAK 79026 broad.mit.edu 37 11 62285979 62285979 + Missense_Mutation SNP G G C TCGA-FD-A43N-01A-11D-A23U-08 TCGA-FD-A43N-10A-01D-A23U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7ad967f2-cade-41e1-9aaf-b651ebafb8ef 38660148-12e6-4dae-9041-075ca6892d9b g.chr11:62285979G>C ENST00000378024.4 - 5 16184 c.15910C>G c.(15910-15912)Ctg>Gtg p.L5304V AHNAK_ENST00000530124.1_Intron|AHNAK_ENST00000257247.7_Intron NM_001620.1 NP_001611.1 Q09666 AHNK_HUMAN AHNAK nucleoprotein 5304 nervous system development nucleus protein binding NS(3)|autonomic_ganglia(1)|breast(10)|central_nervous_system(5)|endometrium(17)|haematopoietic_and_lymphoid_tissue(2)|kidney(33)|large_intestine(40)|liver(1)|lung(108)|ovary(13)|pancreas(4)|prostate(5)|skin(16)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(6) 268 Melanoma(852;0.155) TTCAAGTTCAGATCAAGGTCA 0.522000 50 97 0 0 1 0 0 ACIN1 22985 broad.mit.edu 37 14 23548900 23548900 + Silent SNP C C T TCGA-FD-A43N-01A-11D-A23U-08 TCGA-FD-A43N-10A-01D-A23U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7ad967f2-cade-41e1-9aaf-b651ebafb8ef 38660148-12e6-4dae-9041-075ca6892d9b g.chr14:23548900C>T ENST00000262710.1 - 6 2145 c.1818G>A c.(1816-1818)ccG>ccA p.P606P ACIN1_ENST00000605057.1_Silent_p.P548P|ACIN1_ENST00000555053.1_Silent_p.P606P|ACIN1_ENST00000457657.1_Silent_p.P566P NM_001164814.1|NM_014977.3 NP_001158286.1|NP_055792 Q9UKV3 ACINU_HUMAN apoptotic chromatin condensation inducer 1 606 Ser-rich. apoptotic chromosome condensation|erythrocyte differentiation|positive regulation of monocyte differentiation cytosol ATPase activity|enzyme binding|nucleic acid binding|nucleotide binding breast(1)|endometrium(6)|kidney(4)|large_intestine(9)|lung(10)|ovary(2)|prostate(3)|skin(1)|upper_aerodigestive_tract(1) 37 all_cancers(95;1.36e-05) GBM - Glioblastoma multiforme(265;0.00816) TGGATCTGAGCGGTGAATGAG 0.527000 102 187 0 0 1 0 0 GALNT7 51809 broad.mit.edu 37 4 174235265 174235265 + Nonsense_Mutation SNP G G T TCGA-FD-A43N-01A-11D-A23U-08 TCGA-FD-A43N-10A-01D-A23U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7ad967f2-cade-41e1-9aaf-b651ebafb8ef 38660148-12e6-4dae-9041-075ca6892d9b g.chr4:174235265G>T ENST00000265000.4 + 9 1629 c.1546G>T c.(1546-1548)Gaa>Taa p.E516* NM_017423.2 NP_059119.2 Q86SF2 GALT7_HUMAN UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase 7 (GalNAc-T7) 516 protein O-linked glycosylation Golgi membrane|integral to membrane polypeptide N-acetylgalactosaminyltransferase activity|sugar binding central_nervous_system(1)|kidney(3)|large_intestine(5)|liver(1)|lung(9) 19 Prostate(90;0.0132)|Renal(120;0.0183)|Melanoma(52;0.0749)|all_hematologic(60;0.107)|all_neural(102;0.122) all cancers(43;1.87e-18)|Epithelial(43;3.44e-17)|OV - Ovarian serous cystadenocarcinoma(60;2.48e-09)|STAD - Stomach adenocarcinoma(60;0.0019)|GBM - Glioblastoma multiforme(59;0.0119)|LUSC - Lung squamous cell carcinoma(193;0.0199) GTTCATGGAAGAAATAGCTTA 0.398000 42 94 1.00001e-27 1.12018e-27 1 1 0 CYB5R1 51706 broad.mit.edu 37 1 202935085 202935085 + Missense_Mutation SNP C C A TCGA-FD-A43N-01A-11D-A23U-08 TCGA-FD-A43N-10A-01D-A23U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7ad967f2-cade-41e1-9aaf-b651ebafb8ef 38660148-12e6-4dae-9041-075ca6892d9b g.chr1:202935085C>A ENST00000367249.4 - 4 349 c.275G>T c.(274-276)aGc>aTc p.S92I NM_016243.2 NP_057327.2 Q9UHQ9 NB5R1_HUMAN cytochrome b5 reductase 1 92 FAD-binding FR-type. S -> N (in Ref. 1; AAF06147). sterol biosynthetic process integral to membrane cytochrome-b5 reductase activity breast(1)|kidney(2)|large_intestine(3)|lung(2)|ovary(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 12 BRCA - Breast invasive adenocarcinoma(75;0.141) GATGACCAGGCTGCCATCAAT 0.527000 13 48 1.49906e-05 1.54646e-05 1 1 0 EFR3A 23167 broad.mit.edu 37 8 133008705 133008705 + Silent SNP G G A TCGA-FD-A43N-01A-11D-A23U-08 TCGA-FD-A43N-10A-01D-A23U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7ad967f2-cade-41e1-9aaf-b651ebafb8ef 38660148-12e6-4dae-9041-075ca6892d9b g.chr8:133008705G>A ENST00000254624.5 + 19 2343 c.2118G>A c.(2116-2118)caG>caA p.Q706Q EFR3A_ENST00000519656.1_Silent_p.Q670Q|EFR3A_ENST00000334503.4_Silent_p.Q706Q NM_015137.4 NP_055952.2 Q14156 EFR3A_HUMAN EFR3 homolog A (S. cerevisiae) 706 plasma membrane binding breast(2)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(6)|lung(14)|ovary(3)|skin(1)|stomach(2) 35 Esophageal squamous(12;0.00693)|Ovarian(258;0.00769)|Acute lymphoblastic leukemia(118;0.155) BRCA - Breast invasive adenocarcinoma(115;0.000805)|LUAD - Lung adenocarcinoma(14;0.102) TATCCATTCAGGTGGATATTT 0.318000 7 27 0 0 1 0 0 AHNAK 79026 broad.mit.edu 37 11 62285546 62285546 + Missense_Mutation SNP G G A TCGA-FD-A43N-01A-11D-A23U-08 TCGA-FD-A43N-10A-01D-A23U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7ad967f2-cade-41e1-9aaf-b651ebafb8ef 38660148-12e6-4dae-9041-075ca6892d9b g.chr11:62285546G>A ENST00000378024.4 - 5 16617 c.16343C>T c.(16342-16344)tCa>tTa p.S5448L AHNAK_ENST00000530124.1_Intron|AHNAK_ENST00000257247.7_Intron NM_001620.1 NP_001611.1 Q09666 AHNK_HUMAN AHNAK nucleoprotein 5448 nervous system development nucleus protein binding NS(3)|autonomic_ganglia(1)|breast(10)|central_nervous_system(5)|endometrium(17)|haematopoietic_and_lymphoid_tissue(2)|kidney(33)|large_intestine(40)|liver(1)|lung(108)|ovary(13)|pancreas(4)|prostate(5)|skin(16)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(6) 268 Melanoma(852;0.155) ATTCGGTGCTGAAATCCGAGG 0.567000 53 97 0 0 1 0 0 PCNX 22990 broad.mit.edu 37 14 71479732 71479732 + Missense_Mutation SNP C C A TCGA-FD-A43N-01A-11D-A23U-08 TCGA-FD-A43N-10A-01D-A23U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7ad967f2-cade-41e1-9aaf-b651ebafb8ef 38660148-12e6-4dae-9041-075ca6892d9b g.chr14:71479732C>A ENST00000304743.2 + 11 3255 c.2809C>A c.(2809-2811)Cta>Ata p.L937I PCNX_ENST00000238570.5_Missense_Mutation_p.L937I|PCNX_ENST00000439984.3_Missense_Mutation_p.L826I NM_014982.2 NP_055797.2 Q96RV3 PCX1_HUMAN pecanex homolog (Drosophila) 937 integral to membrane NS(2)|biliary_tract(1)|breast(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(14)|liver(2)|lung(40)|ovary(1)|prostate(7)|skin(2)|urinary_tract(1) 87 KIRC - Kidney renal clear cell carcinoma(12;0.206) all cancers(60;0.00835)|BRCA - Breast invasive adenocarcinoma(234;0.00951)|OV - Ovarian serous cystadenocarcinoma(108;0.0417) ATTGAATAGACTATTGACCAT 0.368000 21 148 4.4004e-07 4.61247e-07 1 1 0 REEP6 92840 broad.mit.edu 37 19 1496444 1496444 + Missense_Mutation SNP C C T TCGA-FD-A43N-01A-11D-A23U-08 TCGA-FD-A43N-10A-01D-A23U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7ad967f2-cade-41e1-9aaf-b651ebafb8ef 38660148-12e6-4dae-9041-075ca6892d9b g.chr19:1496444C>T ENST00000233596.3 + 4 613 c.509C>T c.(508-510)aCc>aTc p.T170I NM_138393.1 NP_612402.1 Q96HR9 REEP6_HUMAN receptor accessory protein 6 170 integral to membrane lung(1)|ovary(1) 2 Acute lymphoblastic leukemia(61;5.61e-13)|all_hematologic(61;2.65e-08) 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) GCCGGAATAACCAGGAACGGT 0.662000 13 41 0 0 1 0 0 DNAH9 1770 broad.mit.edu 37 17 11845695 11845695 + Missense_Mutation SNP G G A TCGA-FD-A43N-01A-11D-A23U-08 TCGA-FD-A43N-10A-01D-A23U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7ad967f2-cade-41e1-9aaf-b651ebafb8ef 38660148-12e6-4dae-9041-075ca6892d9b g.chr17:11845695G>A ENST00000262442.4 + 67 12804 c.12736G>A c.(12736-12738)Gag>Aag p.E4246K DNAH9_ENST00000608377.1_Missense_Mutation_p.E558K|DNAH9_ENST00000396001.2_3'UTR|DNAH9_ENST00000454412.2_Missense_Mutation_p.E4170K NM_001372.3 NP_001363.2 Q9NYC9 DYH9_HUMAN dynein, axonemal, heavy chain 9 cell projection organization|cellular component movement|microtubule-based movement|spermatogenesis axonemal dynein complex|cilium axoneme|cytoplasm|microtubule ATP binding|ATPase activity|microtubule motor activity NS(2)|autonomic_ganglia(1)|breast(15)|central_nervous_system(5)|endometrium(17)|haematopoietic_and_lymphoid_tissue(6)|kidney(17)|large_intestine(49)|liver(2)|lung(123)|ovary(6)|pancreas(1)|prostate(6)|skin(21)|stomach(2)|upper_aerodigestive_tract(13)|urinary_tract(4) 290 Breast(5;0.0122)|all_epithelial(5;0.131) Colorectal(4;6.88e-05)|COAD - Colon adenocarcinoma(4;0.000813)|READ - Rectum adenocarcinoma(10;0.157) GGCCAAAGTGGAGGAGCGCAC 0.542000 23 140 0 0 1 0 0 RPUSD4 84881 broad.mit.edu 37 11 126080938 126080938 + Missense_Mutation SNP C C G TCGA-FD-A43N-01A-11D-A23U-08 TCGA-FD-A43N-10A-01D-A23U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7ad967f2-cade-41e1-9aaf-b651ebafb8ef 38660148-12e6-4dae-9041-075ca6892d9b g.chr11:126080938C>G ENST00000298317.4 - 2 255 c.202G>C c.(202-204)Gct>Cct p.A68P RPUSD4_ENST00000534393.1_5'UTR|RPUSD4_ENST00000533628.1_Missense_Mutation_p.A68P NM_032795.2 NP_116184.2 Q96CM3 RUSD4_HUMAN RNA pseudouridylate synthase domain containing 4 68 pseudouridine synthesis protein binding|pseudouridine synthase activity|RNA binding breast(1)|central_nervous_system(1)|endometrium(3)|large_intestine(3)|lung(8)|skin(1) 17 all_hematologic(175;0.145) Breast(109;0.00867)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.0919)|all_lung(97;0.0994)|all_neural(223;0.224) BRCA - Breast invasive adenocarcinoma(274;1.13e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0761) CGCTGAACAGCGTTTGTGGAC 0.557000 94 109 0 0 1 0 0 CADPS2 93664 broad.mit.edu 37 7 122261650 122261650 + Missense_Mutation SNP G G A TCGA-FD-A43N-01A-11D-A23U-08 TCGA-FD-A43N-10A-01D-A23U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7ad967f2-cade-41e1-9aaf-b651ebafb8ef 38660148-12e6-4dae-9041-075ca6892d9b g.chr7:122261650G>A ENST00000334010.7 - 5 1410 c.989C>T c.(988-990)cCg>cTg p.P330L CADPS2_ENST00000449022.2_Missense_Mutation_p.P330L|CADPS2_ENST00000313070.7_Missense_Mutation_p.P330L|CADPS2_ENST00000412584.2_Missense_Mutation_p.P330L NM_001167940.1 NP_001161412.1 Q86UW7 CAPS2_HUMAN Ca++-dependent secretion activator 2 330 exocytosis|protein transport cell junction|cytoplasmic vesicle membrane|synapse lipid binding|metal ion binding breast(1)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(7)|lung(26)|ovary(2) 43 TTTAAATTCCGGACCACCTTT 0.378000 21 139 0 0 1 0 0 INTS2 57508 broad.mit.edu 37 17 59947181 59947181 + Nonsense_Mutation SNP G G A TCGA-FD-A43N-01A-11D-A23U-08 TCGA-FD-A43N-10A-01D-A23U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7ad967f2-cade-41e1-9aaf-b651ebafb8ef 38660148-12e6-4dae-9041-075ca6892d9b g.chr17:59947181G>A ENST00000444766.3 - 21 3046 c.2971C>T c.(2971-2973)Cga>Tga p.R991* INTS2_ENST00000251334.6_Nonsense_Mutation_p.R983* NM_020748.2 NP_065799 Q9H0H0 INT2_HUMAN integrator complex subunit 2 991 snRNA processing integral to membrane|integrator complex|nuclear membrane protein binding NS(1)|breast(2)|cervix(2)|endometrium(3)|kidney(2)|large_intestine(6)|lung(15)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(2) 38 TGAACTTCTCGAAGGTTACAG 0.408000 42 278 0 0 1 0 0 TBX20 57057 broad.mit.edu 37 7 35284638 35284638 + Missense_Mutation SNP C C T TCGA-FD-A43N-01A-11D-A23U-08 TCGA-FD-A43N-10A-01D-A23U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7ad967f2-cade-41e1-9aaf-b651ebafb8ef 38660148-12e6-4dae-9041-075ca6892d9b g.chr7:35284638C>T ENST00000408931.3 - 4 1103 c.577G>A c.(577-579)Ggt>Agt p.G193S NM_001077653.2|NM_001166220.1 NP_001071121.1|NP_001159692.1 Q9UMR3 TBX20_HUMAN T-box 20 193 nucleus DNA binding p.G193S(2) central_nervous_system(1)|cervix(1)|endometrium(3)|large_intestine(1)|lung(9)|prostate(1)|skin(1)|stomach(1) 18 AGTTGCTCACCGGTAAAAGGA 0.383000 5 75 0 0 1 0 0 GALNT8 26290 broad.mit.edu 37 12 4853757 4853757 + Missense_Mutation SNP C C T rs150412211 TCGA-FD-A43N-01A-11D-A23U-08 TCGA-FD-A43N-10A-01D-A23U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7ad967f2-cade-41e1-9aaf-b651ebafb8ef 38660148-12e6-4dae-9041-075ca6892d9b g.chr12:4853757C>T ENST00000252318.2 + 4 1088 c.751C>T c.(751-753)Cgg>Tgg p.R251W NM_017417.1 NP_059113.1 Q9NY28 GALT8_HUMAN UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase 8 (GalNAc-T8) 251 Catalytic subdomain A. Golgi membrane|integral to membrane polypeptide N-acetylgalactosaminyltransferase activity|sugar binding central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(13)|ovary(2)|pancreas(1)|prostate(4)|skin(2)|urinary_tract(1) 35 GAAAATAATACGGCATCCTGA 0.463000 29 42 0 0 1 0 0 ILF3 3609 broad.mit.edu 37 19 10798052 10798052 + Missense_Mutation SNP G G C TCGA-FD-A43N-01A-11D-A23U-08 TCGA-FD-A43N-10A-01D-A23U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7ad967f2-cade-41e1-9aaf-b651ebafb8ef 38660148-12e6-4dae-9041-075ca6892d9b g.chr19:10798052G>C ENST00000449870.1 + 18 2419 c.2102G>C c.(2101-2103)gGg>gCg p.G701A ILF3_ENST00000590261.1_Missense_Mutation_p.G697A|ILF3_ENST00000588657.1_Missense_Mutation_p.G701A|ILF3_ENST00000318511.3_Missense_Mutation_p.G697A NM_017620.2 NP_060090.2 Q12906 ILF3_HUMAN interleukin enhancer binding factor 3, 90kDa 697 Interaction with PRMT1.|Poly-Gly. M phase|negative regulation of transcription, DNA-dependent|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent mitochondrion|nucleolus|ribonucleoprotein complex DNA binding|double-stranded RNA binding|protein binding NS(1)|breast(3)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(9)|ovary(6)|prostate(2)|skin(1)|upper_aerodigestive_tract(1) 31 Epithelial(33;6.86e-06)|all cancers(31;1.65e-05) GGGCATTCTGGGAATGCCAGT 0.642000 9 17 0 0 1 0 0 DPPA3P2 400206 broad.mit.edu 37 14 36840915 36840915 + RNA SNP G G A TCGA-FD-A43N-01A-11D-A23U-08 TCGA-FD-A43N-10A-01D-A23U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7ad967f2-cade-41e1-9aaf-b651ebafb8ef 38660148-12e6-4dae-9041-075ca6892d9b g.chr14:36840915G>A ENST00000557188.1 + 0 546 TGGCAAGATTGAGATACATGT 0.473000 40 37 0 0 1 0 0 TUBGCP4 27229 broad.mit.edu 37 15 43678471 43678471 + Silent SNP C C G TCGA-FD-A43N-01A-11D-A23U-08 TCGA-FD-A43N-10A-01D-A23U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7ad967f2-cade-41e1-9aaf-b651ebafb8ef 38660148-12e6-4dae-9041-075ca6892d9b g.chr15:43678471C>G ENST00000564079.1 + 9 1197 c.957C>G c.(955-957)ctC>ctG p.L319L TUBGCP4_ENST00000399460.3_Silent_p.L183L|TUBGCP4_ENST00000260383.7_Silent_p.L319L NM_014444.2 NP_055259.2 Q9UGJ1 GCP4_HUMAN tubulin, gamma complex associated protein 4 319 G2/M transition of mitotic cell cycle|microtubule nucleation|protein complex assembly centrosome|cytosol|gamma-tubulin ring complex|microtubule|spindle pole structural constituent of cytoskeleton breast(1)|cervix(2)|endometrium(1)|kidney(1)|large_intestine(5)|lung(3)|ovary(4)|prostate(2)|upper_aerodigestive_tract(2) 21 all_cancers(109;1.27e-10)|all_epithelial(112;4.82e-09)|Lung NSC(122;1.72e-06)|all_lung(180;1.59e-05)|Melanoma(134;0.0728) GBM - Glioblastoma multiforme(94;3.53e-07) AGCAGCCACTCTTCAGCTTGG 0.433000 17 55 0 0 1 0 0 CACNA1S 779 broad.mit.edu 37 1 201054595 201054595 + Silent SNP G G A TCGA-FD-A43N-01A-11D-A23U-08 TCGA-FD-A43N-10A-01D-A23U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7ad967f2-cade-41e1-9aaf-b651ebafb8ef 38660148-12e6-4dae-9041-075ca6892d9b g.chr1:201054595G>A ENST00000362061.3 - 8 1345 c.1119C>T c.(1117-1119)ggC>ggT p.G373G CACNA1S_ENST00000367338.3_Silent_p.G373G NM_000069.2 NP_000060.2 Q13698 CAC1S_HUMAN calcium channel, voltage-dependent, L type, alpha 1S subunit 373 Binding to the beta subunit (By similarity). axon guidance I band|T-tubule|voltage-gated calcium channel complex high voltage-gated calcium channel activity NS(2)|breast(4)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(13)|large_intestine(19)|lung(37)|ovary(6)|prostate(3)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(2) 102 Magnesium Sulfate(DB00653)|Verapamil(DB00661) CCATGACCTCGCCCTGCGTGA 0.577000 OREG0014068 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 96 136 0 0 1 0 0 UBE3C 9690 broad.mit.edu 37 7 157023793 157023793 + Silent SNP G G T TCGA-FD-A43N-01A-11D-A23U-08 TCGA-FD-A43N-10A-01D-A23U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7ad967f2-cade-41e1-9aaf-b651ebafb8ef 38660148-12e6-4dae-9041-075ca6892d9b g.chr7:157023793G>T ENST00000348165.5 + 18 2613 c.2253G>T c.(2251-2253)cgG>cgT p.R751R NM_014671.2 NP_055486.2 Q15386 UBE3C_HUMAN ubiquitin protein ligase E3C 751 HECT. protein polyubiquitination|protein ubiquitination involved in ubiquitin-dependent protein catabolic process nucleus|proteasome complex protein binding|ubiquitin-protein ligase activity central_nervous_system(2)|endometrium(3)|kidney(16)|large_intestine(13)|lung(25)|ovary(2)|prostate(1)|urinary_tract(1) 63 all_hematologic(28;0.0185)|all_epithelial(9;0.0664) OV - Ovarian serous cystadenocarcinoma(82;0.00448) UCEC - Uterine corpus endometrioid carcinoma (81;0.19) TGAAAAAGCGGATCCGTGTGC 0.428000 81 141 2.93416e-43 3.34417e-43 1 1 0 CAMLG 819 broad.mit.edu 37 5 134074314 134074314 + Missense_Mutation SNP G G C TCGA-FD-A43N-01A-11D-A23U-08 TCGA-FD-A43N-10A-01D-A23U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7ad967f2-cade-41e1-9aaf-b651ebafb8ef 38660148-12e6-4dae-9041-075ca6892d9b g.chr5:134074314G>C ENST00000297156.2 + 1 124 c.4G>C c.(4-6)Gag>Cag p.E2Q CAMLG_ENST00000514518.1_Missense_Mutation_p.E2Q NM_001745.3 NP_001736.1 P49069 CAMLG_HUMAN calcium modulating ligand 2 defense response endoplasmic reticulum|integral to membrane NS(1)|cervix(1)|kidney(3)|lung(3)|prostate(1) 9 KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365) Cyclosporine(DB00091) CGGGAGGATGGAGTCGATGGC 0.726000 6 33 0 0 1 0 0 PIK3C2B 5287 broad.mit.edu 37 1 204433165 204433165 + Missense_Mutation SNP A A T TCGA-FD-A43N-01A-11D-A23U-08 TCGA-FD-A43N-10A-01D-A23U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7ad967f2-cade-41e1-9aaf-b651ebafb8ef 38660148-12e6-4dae-9041-075ca6892d9b g.chr1:204433165A>T ENST00000367187.3 - 6 1841 c.1285T>A c.(1285-1287)Tgc>Agc p.C429S PIK3C2B_ENST00000424712.2_Missense_Mutation_p.C429S NM_002646.3 NP_002637.3 O00750 P3C2B_HUMAN phosphatidylinositol-4-phosphate 3-kinase, catalytic subunit type 2 beta 429 cell communication|phosphatidylinositol-mediated signaling endoplasmic reticulum|microsome|nucleus|phosphatidylinositol 3-kinase complex|plasma membrane 1-phosphatidylinositol-3-kinase activity|ATP binding|phosphatidylinositol binding|phosphatidylinositol-4-phosphate 3-kinase activity|protein binding breast(3)|central_nervous_system(1)|cervix(2)|endometrium(4)|large_intestine(11)|lung(24)|prostate(3)|skin(2)|stomach(1)|upper_aerodigestive_tract(1) 52 all_cancers(21;0.00347)|all_neural(3;0.0218)|Glioma(3;0.0382)|all_epithelial(62;0.171)|Breast(84;0.179)|Prostate(682;0.227) GBM - Glioblastoma multiforme(2;2.69e-45)|all cancers(3;1.66e-30)|KIRC - Kidney renal clear cell carcinoma(13;0.0584)|Kidney(21;0.0934)|BRCA - Breast invasive adenocarcinoma(75;0.143)|Epithelial(59;0.193) TCCAGCCCGCAGGGCTTTAGC 0.547000 87 121 0 0 1 0 0 AMPD2 271 broad.mit.edu 37 1 110172959 110172959 + Silent SNP G G A TCGA-FD-A43N-01A-11D-A23U-08 TCGA-FD-A43N-10A-01D-A23U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7ad967f2-cade-41e1-9aaf-b651ebafb8ef 38660148-12e6-4dae-9041-075ca6892d9b g.chr1:110172959G>A ENST00000256578.3 + 16 2610 c.2250G>A c.(2248-2250)ccG>ccA p.P750P AMPD2_ENST00000528454.1_Silent_p.P632P|AMPD2_ENST00000342115.4_Silent_p.P669P|AMPD2_ENST00000393688.3_Silent_p.P631P|AMPD2_ENST00000528667.1_Silent_p.P750P|AMPD2_ENST00000358729.4_Silent_p.P675P|AMPD2_ENST00000526301.1_3'UTR NM_004037.7 NP_004028.3 Q01433 AMPD2_HUMAN adenosine monophosphate deaminase 2 750 purine base metabolic process|purine ribonucleoside monophosphate biosynthetic process|purine-containing compound salvage cytosol AMP deaminase activity|metal ion binding breast(1)|large_intestine(3)|ovary(2)|skin(1) 7 all_epithelial(167;2.5e-05)|all_lung(203;0.000135)|Lung NSC(277;0.000269)|Breast(1374;0.244) Lung(183;0.0425)|all cancers(265;0.0884)|Colorectal(144;0.109)|Epithelial(280;0.111)|LUSC - Lung squamous cell carcinoma(189;0.228) ATCCGCTACCGGAGTACCTGT 0.617000 52 260 0 0 1 0 0 DUS3L 56931 broad.mit.edu 37 19 5789417 5789417 + Missense_Mutation SNP C C T TCGA-FD-A43N-01A-11D-A23U-08 TCGA-FD-A43N-10A-01D-A23U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7ad967f2-cade-41e1-9aaf-b651ebafb8ef 38660148-12e6-4dae-9041-075ca6892d9b g.chr19:5789417C>T ENST00000309061.7 - 3 797 c.701G>A c.(700-702)cGg>cAg p.R234Q DUS3L_ENST00000320699.8_Intron|DUS3L_ENST00000590681.1_5'UTR NM_020175.2 NP_064560.2 Q96G46 DUS3L_HUMAN dihydrouridine synthase 3-like (S. cerevisiae) 234 tRNA processing flavin adenine dinucleotide binding|nucleic acid binding|tRNA dihydrouridine synthase activity|zinc ion binding endometrium(1)|kidney(1)|large_intestine(1)|lung(8)|prostate(1)|skin(2) 14 CTGGCTGAACCGGCGCAGGGC 0.721000 8 8 0 0 1 0 0 DNM1P47 100216544 broad.mit.edu 37 15 102292785 102292785 + RNA SNP C C G rs61084368 TCGA-FD-A43N-01A-11D-A23U-08 TCGA-FD-A43N-10A-01D-A23U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7ad967f2-cade-41e1-9aaf-b651ebafb8ef 38660148-12e6-4dae-9041-075ca6892d9b g.chr15:102292785C>G ENST00000561463.1 + 0 831 p.Q125E(1) TGCTGCTTCTCAGAGCTGCTG 0.602000 3 41 0 0 1 0 0 ITIH3 3699 broad.mit.edu 37 3 52836750 52836750 + Missense_Mutation SNP G G A TCGA-FD-A43N-01A-11D-A23U-08 TCGA-FD-A43N-10A-01D-A23U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7ad967f2-cade-41e1-9aaf-b651ebafb8ef 38660148-12e6-4dae-9041-075ca6892d9b g.chr3:52836750G>A ENST00000449956.2 + 13 1643 c.1637G>A c.(1636-1638)cGg>cAg p.R546Q ITIH3_ENST00000416872.2_Intron NM_002217.3 NP_002208.3 Q06033 ITIH3_HUMAN inter-alpha-trypsin inhibitor heavy chain 3 546 hyaluronan metabolic process extracellular region serine-type endopeptidase inhibitor activity breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(6)|liver(1)|lung(6)|ovary(2)|prostate(3)|skin(1)|stomach(1)|urinary_tract(1) 25 BRCA - Breast invasive adenocarcinoma(193;7e-05)|Kidney(197;0.000656)|KIRC - Kidney renal clear cell carcinoma(197;0.000794)|OV - Ovarian serous cystadenocarcinoma(275;0.0496) CTGCAGGAGCGGGACTACATC 0.607000 22 66 0 0 1 0 0 PAPSS1 9061 broad.mit.edu 37 4 108552965 108552965 + Missense_Mutation SNP C C A TCGA-FD-A43N-01A-11D-A23U-08 TCGA-FD-A43N-10A-01D-A23U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7ad967f2-cade-41e1-9aaf-b651ebafb8ef 38660148-12e6-4dae-9041-075ca6892d9b g.chr4:108552965C>A ENST00000265174.4 - 11 1830 c.1558G>T c.(1558-1560)Gtt>Ttt p.V520F NM_005443.4 NP_005434.4 O43252 PAPS1_HUMAN 3'-phosphoadenosine 5'-phosphosulfate synthase 1 520 IV -> MC (in Ref. 4; AAD09325). 3'-phosphoadenosine 5'-phosphosulfate biosynthetic process|skeletal system development|sulfate assimilation|xenobiotic metabolic process cytosol adenylylsulfate kinase activity|ATP binding|sulfate adenylyltransferase (ATP) activity NS(1)|endometrium(2)|kidney(5)|large_intestine(2)|lung(5)|ovary(1) 16 Hepatocellular(203;0.217) OV - Ovarian serous cystadenocarcinoma(123;5.49e-05) TCTCGTCCAACAATGTAAAAG 0.458000 11 55 1.61879e-10 1.7387e-10 1 1 0 SHBG 6462 broad.mit.edu 37 17 7534652 7534652 + Silent SNP C C G TCGA-FD-A43N-01A-11D-A23U-08 TCGA-FD-A43N-10A-01D-A23U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7ad967f2-cade-41e1-9aaf-b651ebafb8ef 38660148-12e6-4dae-9041-075ca6892d9b g.chr17:7534652C>G ENST00000380450.4 + 4 559 c.528C>G c.(526-528)ctC>ctG p.L176L SHBG_ENST00000441599.2_Silent_p.L176L|SHBG_ENST00000576728.1_Intron|SHBG_ENST00000576478.1_Intron|SHBG_ENST00000572262.1_Intron|SHBG_ENST00000416273.3_Silent_p.L176L|SHBG_ENST00000572182.1_Intron|SHBG_ENST00000575314.1_Silent_p.L118L|SHBG_ENST00000574539.1_Silent_p.L118L|SHBG_ENST00000570547.1_Silent_p.L118L|SHBG_ENST00000340624.5_Silent_p.L118L|SHBG_ENST00000575903.1_Silent_p.L176L NM_001040.3 NP_001031.2 P04278 SHBG_HUMAN sex hormone-binding globulin 176 Laminin G-like 1. hormone transport extracellular region androgen binding|protein homodimerization activity p.0?(1)|p.?(1) cervix(1)|endometrium(2)|large_intestine(4)|lung(2)|skin(1) 10 all_cancers(10;0.0867) READ - Rectum adenocarcinoma(115;0.168) Danazol(DB01406)|Dromostanolone(DB00858)|Estradiol(DB00783)|Estrone(DB00655)|Fluoxymesterone(DB01185)|Hydrocortisone(DB00741)|Mitotane(DB00648)|Norethindrone(DB00717)|Testosterone(DB00624) GGGGGCTGCTCTTCCCCGCTT 0.622000 10 42 0 0 1 0 0 CEP68 23177 broad.mit.edu 37 2 65298651 65298651 + Missense_Mutation SNP A A G TCGA-FD-A43N-01A-11D-A23U-08 TCGA-FD-A43N-10A-01D-A23U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7ad967f2-cade-41e1-9aaf-b651ebafb8ef 38660148-12e6-4dae-9041-075ca6892d9b g.chr2:65298651A>G ENST00000377990.2 + 3 624 c.421A>G c.(421-423)Aca>Gca p.T141A CEP68_ENST00000497039.1_3'UTR|CEP68_ENST00000260569.4_Missense_Mutation_p.T141A|CEP68_ENST00000537589.1_5'UTR|RAB1A_ENST00000494188.1_Intron|CEP68_ENST00000546106.1_Missense_Mutation_p.T141A NM_015147.2 NP_055962.2 Q76N32 CEP68_HUMAN centrosomal protein 68kDa 141 centrosome organization centrosome breast(1)|endometrium(6)|kidney(8)|large_intestine(5)|lung(8)|prostate(2)|skin(1)|upper_aerodigestive_tract(1) 32 TCCCAGAACAACAACTATTTG 0.512000 61 90 0 0 1 0 0 PCDHA4 56144 broad.mit.edu 37 5 140186931 140186931 + Silent SNP A A G TCGA-FD-A43N-01A-11D-A23U-08 TCGA-FD-A43N-10A-01D-A23U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7ad967f2-cade-41e1-9aaf-b651ebafb8ef 38660148-12e6-4dae-9041-075ca6892d9b g.chr5:140186931A>G ENST00000530339.1 + 1 159 c.159A>G c.(157-159)ggA>ggG p.G53G PCDHA2_ENST00000526136.1_Intron|PCDHA1_ENST00000504120.2_Intron|PCDHA1_ENST00000394633.3_Intron|PCDHA3_ENST00000522353.2_Intron|PCDHA4_ENST00000512229.2_Silent_p.G53G|PCDHA4_ENST00000356878.4_Silent_p.G53G NM_018907.2 NP_061730.1 breast(6)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(12)|lung(33)|ovary(6)|pancreas(1)|prostate(3)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 78 KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191) AGGACCTGGGACTGGAGCTGG 0.647000 26 214 0 0 1 0 0 FAM47B 170062 broad.mit.edu 37 X 34961078 34961078 + Missense_Mutation SNP G G C TCGA-FD-A43N-01A-11D-A23U-08 TCGA-FD-A43N-10A-01D-A23U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7ad967f2-cade-41e1-9aaf-b651ebafb8ef 38660148-12e6-4dae-9041-075ca6892d9b g.chrX:34961078G>C ENST00000329357.5 + 1 166 c.130G>C c.(130-132)Gac>Cac p.D44H NM_152631.2 NP_689844.2 Q8NA70 FA47B_HUMAN family with sequence similarity 47, member B 44 breast(3)|central_nervous_system(3)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(13)|lung(28)|ovary(4)|prostate(3)|skin(2)|upper_aerodigestive_tract(3) 71 CCCGCCTGTGGACACCCAGAA 0.567000 26 32 0 0 1 0 0 HIVEP3 59269 broad.mit.edu 37 1 42047754 42047754 + Missense_Mutation SNP C C G TCGA-FD-A43N-01A-11D-A23U-08 TCGA-FD-A43N-10A-01D-A23U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7ad967f2-cade-41e1-9aaf-b651ebafb8ef 38660148-12e6-4dae-9041-075ca6892d9b g.chr1:42047754C>G ENST00000372584.1 - 3 3729 c.2715G>C c.(2713-2715)aaG>aaC p.K905N HIVEP3_ENST00000429157.2_Missense_Mutation_p.K905N|HIVEP3_ENST00000247584.5_Missense_Mutation_p.K905N|HIVEP3_ENST00000372583.1_Missense_Mutation_p.K905N NM_001127714.2 NP_001121186.1 Q5T1R4 ZEP3_HUMAN human immunodeficiency virus type I enhancer binding protein 3 905 No DNA binding activity or transactivation activity, but complete prevention of TRAF-dependent NF-Kappa-B activation; associates with TRAF2 and JUN (By similarity). positive regulation of transcription, DNA-dependent|transcription, DNA-dependent cytoplasm|nucleus zinc ion binding NS(2)|breast(3)|central_nervous_system(5)|endometrium(13)|kidney(3)|large_intestine(13)|lung(33)|ovary(4)|prostate(5)|skin(2)|stomach(1)|upper_aerodigestive_tract(1) 85 Ovarian(52;0.00769)|all_hematologic(146;0.109)|Acute lymphoblastic leukemia(166;0.155) Myeloproliferative disorder(586;0.0367) GCAACCTCTTCTTTTTGGGTG 0.597000 51 180 0 0 1 0 0 SUFU 51684 broad.mit.edu 37 10 104357040 104357040 + Silent SNP C C T TCGA-FD-A43N-01A-11D-A23U-08 TCGA-FD-A43N-10A-01D-A23U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7ad967f2-cade-41e1-9aaf-b651ebafb8ef 38660148-12e6-4dae-9041-075ca6892d9b g.chr10:104357040C>T ENST00000369902.3 + 7 1066 c.900C>T c.(898-900)ctC>ctT p.L300L SUFU_ENST00000369899.2_Silent_p.L300L|SUFU_ENST00000471000.1_3'UTR|SUFU_ENST00000423559.2_Silent_p.L300L NM_016169.3 NP_057253.2 Q9UMX1 SUFU_HUMAN suppressor of fused homolog (Drosophila) 300 negative regulation of transcription from RNA polymerase II promoter|proteolysis|skeletal system development cytoplasm|nucleus identical protein binding|protein binding|signal transducer activity|transcription corepressor activity|transcription factor binding breast(2)|central_nervous_system(7)|endometrium(4)|kidney(1)|large_intestine(3)|lung(4)|prostate(1)|skin(2) 24 Colorectal(252;0.207) Epithelial(162;1.36e-08)|all cancers(201;3.81e-07)|BRCA - Breast invasive adenocarcinoma(275;0.242) CCCGGCGACTCTCTGGCAAAG 0.612000 """D, F, S""" medulloblastoma medulloblastoma Medulloblastoma, associated with Germline SUFU Mutation OREG0020482 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 12 76 0 0 1 0 0 SDK1 221935 broad.mit.edu 37 7 3990655 3990655 + Silent SNP A A T TCGA-FD-A43N-01A-11D-A23U-08 TCGA-FD-A43N-10A-01D-A23U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7ad967f2-cade-41e1-9aaf-b651ebafb8ef 38660148-12e6-4dae-9041-075ca6892d9b g.chr7:3990655A>T ENST00000404826.2 + 6 1087 c.948A>T c.(946-948)atA>atT p.I316I SDK1_ENST00000389531.3_Silent_p.I316I NM_152744.3 NP_689957.3 Q7Z5N4 SDK1_HUMAN sidekick cell adhesion molecule 1 316 Ig-like C2-type 3. cell adhesion integral to membrane NS(1)|breast(6)|central_nervous_system(3)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(42)|lung(55)|ovary(4)|pancreas(1)|prostate(4)|skin(6)|upper_aerodigestive_tract(4)|urinary_tract(4) 153 all_cancers(1;0.127)|Ovarian(82;0.0177)|Myeloproliferative disorder(862;0.194) UCEC - Uterine corpus endometrioid carcinoma (126;0.121)|OV - Ovarian serous cystadenocarcinoma(56;9.65e-15) TGGAATGTATAGCCAGTGCCA 0.542000 11 85 0 0 1 0 0 ITGAM 3684 broad.mit.edu 37 16 31308861 31308861 + Silent SNP C C G TCGA-FD-A43N-01A-11D-A23U-08 TCGA-FD-A43N-10A-01D-A23U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7ad967f2-cade-41e1-9aaf-b651ebafb8ef 38660148-12e6-4dae-9041-075ca6892d9b g.chr16:31308861C>G ENST00000544665.3 + 13 1454 c.1383C>G c.(1381-1383)ctC>ctG p.L461L ITGAM_ENST00000287497.8_Silent_p.L461L NM_000632.3|NM_001145808.1 NP_000623.2|NP_001139280.1 P11215 ITAM_HUMAN integrin, alpha M (complement component 3 receptor 3 subunit) 461 blood coagulation|cell adhesion|integrin-mediated signaling pathway|leukocyte migration integrin complex glycoprotein binding|receptor activity endometrium(7)|kidney(1)|large_intestine(10)|lung(32)|ovary(1)|prostate(4)|skin(1) 56 GGGCCTCCCTCTGCTCCGTGG 0.607000 49 188 0 0 1 0 0 PPP1R3A 5506 broad.mit.edu 37 7 113519687 113519687 + Missense_Mutation SNP C C T TCGA-FD-A43N-01A-11D-A23U-08 TCGA-FD-A43N-10A-01D-A23U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7ad967f2-cade-41e1-9aaf-b651ebafb8ef 38660148-12e6-4dae-9041-075ca6892d9b g.chr7:113519687C>T ENST00000284601.3 - 4 1528 c.1460G>A c.(1459-1461)aGa>aAa p.R487K NM_002711.3 NP_002702.2 Q16821 PPR3A_HUMAN protein phosphatase 1, regulatory subunit 3A 487 glycogen metabolic process integral to membrane NS(2)|breast(8)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(14)|liver(1)|lung(43)|ovary(10)|pancreas(7)|prostate(3)|skin(15)|stomach(1)|upper_aerodigestive_tract(2) 121 ATGGAAATCTCTTCGTAAACA 0.368000 5 100 0 0 1 0 0 SEMG2 6407 broad.mit.edu 37 20 43851642 43851642 + Missense_Mutation SNP C C G TCGA-FD-A43N-01A-11D-A23U-08 TCGA-FD-A43N-10A-01D-A23U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7ad967f2-cade-41e1-9aaf-b651ebafb8ef 38660148-12e6-4dae-9041-075ca6892d9b g.chr20:43851642C>G ENST00000372769.3 + 2 1459 c.1369C>G c.(1369-1371)Caa>Gaa p.Q457E NM_003008.2 NP_002999.1 Q02383 SEMG2_HUMAN semenogelin II 457 4 X 60 AA tandem repeats, type I.|Repeat-rich region. sexual reproduction extracellular space|stored secretory granule structural molecule activity autonomic_ganglia(1)|breast(3)|endometrium(6)|kidney(2)|large_intestine(6)|lung(9)|prostate(2)|skin(1)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(2) 36 Myeloproliferative disorder(115;0.0122) TAGTCAAGATCAAGAGCATGG 0.388000 68 101 0 0 1 0 0 RYR1 6261 broad.mit.edu 37 19 39058462 39058462 + Missense_Mutation SNP C C G TCGA-FD-A43N-01A-11D-A23U-08 TCGA-FD-A43N-10A-01D-A23U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7ad967f2-cade-41e1-9aaf-b651ebafb8ef 38660148-12e6-4dae-9041-075ca6892d9b g.chr19:39058462C>G ENST00000355481.4 + 92 13680 c.13549C>G c.(13549-13551)Ccc>Gcc p.P4517A RYR1_ENST00000360985.3_Missense_Mutation_p.P4517A|RYR1_ENST00000359596.3_Missense_Mutation_p.P4522A NM_000540.2|NM_001042723.1 NP_000531.2|NP_001036188.1 P21817 RYR1_HUMAN ryanodine receptor 1 (skeletal) 4522 Pro-rich. muscle contraction|release of sequestered calcium ion into cytosol|response to caffeine|response to hypoxia cell cortex|cytosol|I band|integral to plasma membrane|junctional sarcoplasmic reticulum membrane|smooth endoplasmic reticulum|terminal cisterna calcium ion binding|calmodulin binding|receptor activity|ryanodine-sensitive calcium-release channel activity NS(4)|autonomic_ganglia(2)|breast(3)|central_nervous_system(5)|endometrium(26)|haematopoietic_and_lymphoid_tissue(3)|kidney(34)|large_intestine(42)|liver(1)|lung(106)|ovary(11)|pancreas(5)|prostate(9)|skin(12)|stomach(11)|upper_aerodigestive_tract(4)|urinary_tract(7) 285 all_cancers(60;7.91e-06) Lung(45;0.00172)|LUSC - Lung squamous cell carcinoma(53;0.00272) Dantrolene(DB01219) ACCAGAGCCCCCCAAGAAGCA 0.597000 11 125 0 0 1 0 0 C6orf136 221545 broad.mit.edu 37 6 30617708 30617708 + Missense_Mutation SNP C C T TCGA-FD-A43N-01A-11D-A23U-08 TCGA-FD-A43N-10A-01D-A23U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7ad967f2-cade-41e1-9aaf-b651ebafb8ef 38660148-12e6-4dae-9041-075ca6892d9b g.chr6:30617708C>T ENST00000293604.6 + 2 1182 c.989C>T c.(988-990)tCt>tTt p.S330F C6orf136_ENST00000376473.5_Missense_Mutation_p.S149F|C6orf136_ENST00000376471.4_Intron|C6orf136_ENST00000528347.2_Missense_Mutation_p.S6F NM_001161376.1 NP_001154848.1 Q5SQH8 CF136_HUMAN chromosome 6 open reading frame 136 149 endometrium(1)|large_intestine(2)|lung(6)|ovary(1) 10 GAACATCTGTCTGTCATGTAT 0.532000 34 198 0 0 1 0 0 OR14A16 284532 broad.mit.edu 37 1 247978482 247978482 + Missense_Mutation SNP C C A TCGA-FD-A43N-01A-11D-A23U-08 TCGA-FD-A43N-10A-01D-A23U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7ad967f2-cade-41e1-9aaf-b651ebafb8ef 38660148-12e6-4dae-9041-075ca6892d9b g.chr1:247978482C>A ENST00000357627.1 - 1 549 c.550G>T c.(550-552)Gct>Tct p.A184S NM_001001966.1 NP_001001966.1 Q8NHC5 O14AG_HUMAN olfactory receptor, family 14, subfamily A, member 16 184 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity breast(1)|endometrium(5)|kidney(1)|large_intestine(3)|lung(32)|skin(2)|stomach(1) 45 CAAGAAATAGCTAATAACTGG 0.393000 45 104 5.44703e-19 5.99863e-19 1 1 0 LAMA1 284217 broad.mit.edu 37 18 6992672 6992672 + Missense_Mutation SNP G G T TCGA-FD-A43N-01A-11D-A23U-08 TCGA-FD-A43N-10A-01D-A23U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7ad967f2-cade-41e1-9aaf-b651ebafb8ef 38660148-12e6-4dae-9041-075ca6892d9b g.chr18:6992672G>T ENST00000389658.3 - 36 5149 c.5056C>A c.(5056-5058)Cta>Ata p.L1686I NM_005559.3 NP_005550.2 P25391 LAMA1_HUMAN laminin, alpha 1 1686 Domain II and I. axon guidance|cell adhesion|cell surface receptor linked signaling pathway|regulation of cell adhesion|regulation of cell migration|regulation of embryonic development extracellular space|laminin-1 complex|laminin-3 complex extracellular matrix structural constituent|receptor binding NS(4)|breast(7)|central_nervous_system(3)|cervix(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(12)|large_intestine(49)|liver(1)|lung(71)|ovary(9)|pancreas(3)|prostate(5)|skin(11)|stomach(7)|upper_aerodigestive_tract(8)|urinary_tract(3) 205 Colorectal(10;0.172) Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Tenecteplase(DB00031) TTGGGTAGTAGGAAATCTTCA 0.353000 13 115 7.03913e-09 7.46834e-09 1 1 0 GPER1 2852 broad.mit.edu 37 7 1131484 1131484 + Silent SNP C C T rs140084051 TCGA-FD-A43N-01A-11D-A23U-08 TCGA-FD-A43N-10A-01D-A23U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7ad967f2-cade-41e1-9aaf-b651ebafb8ef 38660148-12e6-4dae-9041-075ca6892d9b g.chr7:1131484C>T ENST00000397092.1 + 3 1004 c.120C>T c.(118-120)acC>acT p.T40T C7orf50_ENST00000488073.1_Intron|GPER1_ENST00000397088.3_Silent_p.T40T|C7orf50_ENST00000397098.3_Intron|GPER1_ENST00000297469.3_Silent_p.T40T|GPER1_ENST00000401670.1_Silent_p.T40T|C7orf50_ENST00000357429.6_Intron|C7orf50_ENST00000397100.2_Intron NM_001039966.1 NP_001035055.1 G protein-coupled estrogen receptor 1 40 TCCTGGGCACCGCCCTGGCCA 0.677000 48 112 0 0 1 0 0 CABLES1 91768 broad.mit.edu 37 18 20833801 20833801 + Silent SNP C C G TCGA-FD-A43N-01A-11D-A23U-08 TCGA-FD-A43N-10A-01D-A23U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7ad967f2-cade-41e1-9aaf-b651ebafb8ef 38660148-12e6-4dae-9041-075ca6892d9b g.chr18:20833801C>G ENST00000256925.7 + 9 1662 c.1662C>G c.(1660-1662)ctC>ctG p.L554L CABLES1_ENST00000420687.2_Silent_p.L289L|CABLES1_ENST00000585061.1_Intron|TMEM241_ENST00000450466.2_Intron|CABLES1_ENST00000400473.2_Silent_p.L227L NM_001100619.2 NP_001094089.1 Q8TDN4 CABL1_HUMAN Cdk5 and Abl enzyme substrate 1 554 blood coagulation|cell cycle|cell division|regulation of cell cycle|regulation of cell division cytosol|nucleus cyclin-dependent protein kinase regulator activity|protein binding breast(1)|kidney(2)|large_intestine(1)|lung(4)|ovary(1)|prostate(1)|stomach(1) 11 all_cancers(21;0.000102)|all_epithelial(16;2.48e-06)|Lung NSC(20;0.00696)|all_lung(20;0.0197)|Colorectal(14;0.0202)|Ovarian(20;0.127) AGGGGAAACTCAACAAACAGA 0.522000 48 26 0 0 1 0 0 GARS 2617 broad.mit.edu 37 7 30655651 30655651 + Missense_Mutation SNP C C T TCGA-FD-A43N-01A-11D-A23U-08 TCGA-FD-A43N-10A-01D-A23U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7ad967f2-cade-41e1-9aaf-b651ebafb8ef 38660148-12e6-4dae-9041-075ca6892d9b g.chr7:30655651C>T ENST00000389266.3 + 9 1412 c.1171C>T c.(1171-1173)Cgc>Tgc p.R391C NM_002047.2 NP_002038.2 P41250 SYG_HUMAN glycyl-tRNA synthetase 391 cell death|diadenosine tetraphosphate biosynthetic process|glycyl-tRNA aminoacylation cytosol|mitochondrial matrix|soluble fraction ATP binding|glycine-tRNA ligase activity|protein dimerization activity breast(3)|endometrium(2)|kidney(1)|large_intestine(4)|lung(9)|ovary(1)|skin(3)|urinary_tract(1) 24 Glycine(DB00145) TCGGAAAATGCGCCTGGGAGA 0.473000 5 139 0 0 1 0 0 GIMAP8 155038 broad.mit.edu 37 7 150163828 150163828 + Silent SNP C C G TCGA-FD-A43N-01A-11D-A23U-08 TCGA-FD-A43N-10A-01D-A23U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7ad967f2-cade-41e1-9aaf-b651ebafb8ef 38660148-12e6-4dae-9041-075ca6892d9b g.chr7:150163828C>G ENST00000307271.3 + 2 616 c.42C>G c.(40-42)ctC>ctG p.L14L NM_175571.2 NP_783161.1 Q8ND71 GIMA8_HUMAN GTPase, IMAP family member 8 14 Poly-Leu. endoplasmic reticulum|Golgi apparatus|mitochondrion GTP binding breast(3)|central_nervous_system(3)|cervix(1)|endometrium(3)|kidney(4)|large_intestine(11)|lung(26)|ovary(2)|skin(7)|stomach(1)|urinary_tract(1) 62 OV - Ovarian serous cystadenocarcinoma(82;0.0218) UCEC - Uterine corpus endometrioid carcinoma (81;0.17) TGCGGCTCCTCCTCCTGGGAA 0.493000 51 112 0 0 1 0 0 APPL1 26060 broad.mit.edu 37 3 57291024 57291024 + Missense_Mutation SNP G G A TCGA-FD-A43N-01A-11D-A23U-08 TCGA-FD-A43N-10A-01D-A23U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7ad967f2-cade-41e1-9aaf-b651ebafb8ef 38660148-12e6-4dae-9041-075ca6892d9b g.chr3:57291024G>A ENST00000288266.3 + 14 1339 c.1192G>A c.(1192-1194)Gtc>Atc p.V398I NM_012096.2 NP_036228.1 Q9UKG1 DP13A_HUMAN adaptor protein, phosphotyrosine interaction, PH domain and leucine zipper containing 1 398 Required for RAB5A binding. apoptosis|cell cycle|cell proliferation|insulin receptor signaling pathway|regulation of apoptosis|regulation of establishment of protein localization in plasma membrane|regulation of glucose import cytosol|early endosome membrane|microsome|nucleus|vesicle membrane protein kinase B binding breast(3)|endometrium(3)|kidney(3)|large_intestine(10)|liver(2)|lung(4)|prostate(2) 27 KIRC - Kidney renal clear cell carcinoma(284;0.0124)|Kidney(284;0.0144) TCTGGAAGCTGTCACTCCTTC 0.413000 63 110 0 0 1 0 0 ZNFX1 57169 broad.mit.edu 37 20 47887208 47887208 + Missense_Mutation SNP C C T TCGA-FD-A43N-01A-11D-A23U-08 TCGA-FD-A43N-10A-01D-A23U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7ad967f2-cade-41e1-9aaf-b651ebafb8ef 38660148-12e6-4dae-9041-075ca6892d9b g.chr20:47887208C>T ENST00000396105.1 - 3 1387 c.1141G>A c.(1141-1143)Gtc>Atc p.V381I ZNFX1_ENST00000371752.1_Missense_Mutation_p.V381I|ZNFX1_ENST00000371754.4_Missense_Mutation_p.V381I NM_021035.2 NP_066363.1 Q9P2E3 ZNFX1_HUMAN zinc finger, NFX1-type containing 1 381 metal ion binding cervix(2)|endometrium(8)|kidney(7)|large_intestine(15)|liver(1)|lung(17)|ovary(2)|prostate(4)|skin(3)|urinary_tract(1) 60 BRCA - Breast invasive adenocarcinoma(12;0.00173)|COAD - Colon adenocarcinoma(4;0.14)|Colorectal(8;0.166) AAAGGTCTGACGAAATCTTCT 0.473000 25 168 0 0 1 0 0 FAM71A 149647 broad.mit.edu 37 1 212799571 212799571 + Missense_Mutation SNP G G A TCGA-FD-A43N-01A-11D-A23U-08 TCGA-FD-A43N-10A-01D-A23U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7ad967f2-cade-41e1-9aaf-b651ebafb8ef 38660148-12e6-4dae-9041-075ca6892d9b g.chr1:212799571G>A ENST00000294829.3 + 1 1783 c.1352G>A c.(1351-1353)gGa>gAa p.G451E RP11-338C15.5_ENST00000427949.1_RNA NM_153606.3 NP_705834.2 Q8IYT1 FA71A_HUMAN family with sequence similarity 71, member A 451 breast(2)|central_nervous_system(1)|cervix(1)|endometrium(3)|large_intestine(7)|liver(1)|lung(12)|ovary(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1) 36 OV - Ovarian serous cystadenocarcinoma(81;0.00631)|all cancers(67;0.00981)|GBM - Glioblastoma multiforme(131;0.0715)|Epithelial(68;0.094) AAAACAAGGGGAGACAAGATT 0.562000 23 60 0 0 1 0 0 GPR158 57512 broad.mit.edu 37 10 25464936 25464936 + Missense_Mutation SNP G G T TCGA-FD-A43N-01A-11D-A23U-08 TCGA-FD-A43N-10A-01D-A23U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7ad967f2-cade-41e1-9aaf-b651ebafb8ef 38660148-12e6-4dae-9041-075ca6892d9b g.chr10:25464936G>T ENST00000376351.3 + 1 946 c.587G>T c.(586-588)cGc>cTc p.R196L GPR158-AS1_ENST00000449643.1_RNA NM_020752.2 NP_065803.2 Q5T848 GP158_HUMAN G protein-coupled receptor 158 196 integral to membrane|plasma membrane G-protein coupled receptor activity breast(5)|cervix(1)|endometrium(9)|kidney(10)|large_intestine(20)|lung(56)|ovary(4)|pancreas(1)|prostate(3)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3) 119 CAGGCCACGCGCGAGGAGAGC 0.687000 5 36 0.014758 0.0148148 1 1 0 HIF3A 64344 broad.mit.edu 37 19 46832591 46832591 + Missense_Mutation SNP G G A TCGA-FD-A43N-01A-11D-A23U-08 TCGA-FD-A43N-10A-01D-A23U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7ad967f2-cade-41e1-9aaf-b651ebafb8ef 38660148-12e6-4dae-9041-075ca6892d9b g.chr19:46832591G>A ENST00000339613.2 + 12 1655 c.1400G>A c.(1399-1401)cGt>cAt p.R467H HIF3A_ENST00000377670.4_Missense_Mutation_p.R523H|HIF3A_ENST00000472815.1_Intron|HIF3A_ENST00000600383.1_Missense_Mutation_p.R454H|HIF3A_ENST00000420102.2_Missense_Mutation_p.R472H|HIF3A_ENST00000300862.3_Missense_Mutation_p.R521H|AC007193.10_ENST00000596807.1_RNA|HIF3A_ENST00000244303.6_Missense_Mutation_p.R454H Q9Y2N7 HIF3A_HUMAN hypoxia inducible factor 3, alpha subunit 523 NTAD.|ODD. regulation of transcription, DNA-dependent|transcription, DNA-dependent cytoplasm|nucleus DNA binding|signal transducer activity breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(7)|lung(14)|prostate(1)|skin(6)|upper_aerodigestive_tract(1) 33 Ovarian(192;0.00965)|all_neural(266;0.0887) OV - Ovarian serous cystadenocarcinoma(262;0.00204)|all cancers(93;0.0107)|GBM - Glioblastoma multiforme(486;0.0489)|Epithelial(262;0.136) CCCCGGCCCCGTGCTCGGAGC 0.672000 14 117 0 0 1 0 0 EPS15L1 58513 broad.mit.edu 37 19 16528781 16528781 + Missense_Mutation SNP G G A TCGA-FD-A43N-01A-11D-A23U-08 TCGA-FD-A43N-10A-01D-A23U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7ad967f2-cade-41e1-9aaf-b651ebafb8ef 38660148-12e6-4dae-9041-075ca6892d9b g.chr19:16528781G>A ENST00000602009.1 - 5 1518 c.623C>T c.(622-624)tCg>tTg p.S208L EPS15L1_ENST00000535753.2_Missense_Mutation_p.S362L|EPS15L1_ENST00000455140.2_Missense_Mutation_p.S362L|EPS15L1_ENST00000597937.1_Missense_Mutation_p.S362L|EPS15L1_ENST00000594975.1_Missense_Mutation_p.S362L|EPS15L1_ENST00000248070.6_Missense_Mutation_p.S362L Q9UBC2 EP15R_HUMAN epidermal growth factor receptor pathway substrate 15-like 1 362 EH 2. endocytosis|epidermal growth factor receptor signaling pathway|negative regulation of epidermal growth factor receptor signaling pathway coated pit|nucleus|plasma membrane calcium ion binding breast(2)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(3)|large_intestine(3)|lung(12)|ovary(4)|skin(2) 30 GCCTCTCTCCGAAGGCGGGAC 0.597000 OREG0025334 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 10 97 0 0 1 0 0 OR6S1 341799 broad.mit.edu 37 14 21109171 21109171 + Missense_Mutation SNP G G T TCGA-FD-A43N-01A-11D-A23U-08 TCGA-FD-A43N-10A-01D-A23U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7ad967f2-cade-41e1-9aaf-b651ebafb8ef 38660148-12e6-4dae-9041-075ca6892d9b g.chr14:21109171G>T ENST00000320704.3 - 1 679 c.680C>A c.(679-681)gCa>gAa p.A227E NM_001001968.1 NP_001001968.1 Q8NH40 OR6S1_HUMAN olfactory receptor, family 6, subfamily S, member 1 227 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity kidney(1)|large_intestine(3)|lung(13)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2) 23 all_cancers(95;0.00304) Epithelial(56;1.23e-06)|all cancers(55;1.01e-05) GBM - Glioblastoma multiforme(265;0.0135) GCTCAGGACTGCCAGCACAAT 0.527000 6 156 4.68919e-08 4.93499e-08 1 1 0 PRDM9 56979 broad.mit.edu 37 5 23527470 23527470 + Missense_Mutation SNP G G A TCGA-FD-A43N-01A-11D-A23U-08 TCGA-FD-A43N-10A-01D-A23U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7ad967f2-cade-41e1-9aaf-b651ebafb8ef 38660148-12e6-4dae-9041-075ca6892d9b g.chr5:23527470G>A ENST00000296682.3 + 11 2455 c.2273G>A c.(2272-2274)cGc>cAc p.R758H NM_020227.2 NP_064612.2 Q9NQV7 PRDM9_HUMAN PR domain containing 9 758 meiosis|regulation of transcription, DNA-dependent|transcription, DNA-dependent chromosome|nucleoplasm histone-lysine N-methyltransferase activity|nucleic acid binding|zinc ion binding p.R758H(1) NS(1)|breast(1)|central_nervous_system(3)|endometrium(15)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(27)|lung(87)|ovary(6)|pancreas(2)|prostate(4)|skin(10)|upper_aerodigestive_tract(11) 172 CGGGGCTTTCGCGATAAGTCA 0.572000 HNSCC(3;0.000094) 122 133 0 0 1 0 0 CDC20 991 broad.mit.edu 37 1 43825271 43825271 + Nonsense_Mutation SNP G G T TCGA-FD-A43N-01A-11D-A23U-08 TCGA-FD-A43N-10A-01D-A23U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7ad967f2-cade-41e1-9aaf-b651ebafb8ef 38660148-12e6-4dae-9041-075ca6892d9b g.chr1:43825271G>T ENST00000372462.1 + 2 495 c.292G>T c.(292-294)Gag>Tag p.E98* CDC20_ENST00000310955.6_Nonsense_Mutation_p.E98* Q12834 CDC20_HUMAN cell division cycle 20 98 activation of anaphase-promoting complex activity|anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|cell division|mitotic cell cycle spindle assembly checkpoint|mitotic prometaphase|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|positive regulation of synapse maturation|positive regulation of synaptic plasticity|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle cytosol|nucleoplasm|spindle enzyme binding|protein C-terminus binding endometrium(2)|kidney(1)|large_intestine(3)|lung(7)|ovary(1)|prostate(1) 15 all_hematologic(146;0.0958)|Acute lymphoblastic leukemia(166;0.155) Myeloproliferative disorder(586;0.0333) CCTGAGCAAGGAGAACCAGCC 0.557000 35 190 4.3181e-19 4.77552e-19 1 1 0 ZAN 7455 broad.mit.edu 37 7 100334565 100334565 + RNA SNP C C T TCGA-FD-A43N-01A-11D-A23U-08 TCGA-FD-A43N-10A-01D-A23U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7ad967f2-cade-41e1-9aaf-b651ebafb8ef 38660148-12e6-4dae-9041-075ca6892d9b g.chr7:100334565C>T ENST00000542585.1 + 0 535 ZAN_ENST00000349350.6_RNA|ZAN_ENST00000546292.1_RNA|ZAN_ENST00000348028.3_RNA|ZAN_ENST00000421100.1_RNA|ZAN_ENST00000427578.1_RNA|ZAN_ENST00000449052.1_RNA|ZAN_ENST00000546213.1_RNA|ZAN_ENST00000538115.1_RNA|ZAN_ENST00000443370.1_RNA NM_003386.1 NP_003377.1 Q9Y493 ZAN_HUMAN zonadhesin (gene/pseudogene) binding of sperm to zona pellucida|cell-cell adhesion integral to membrane|plasma membrane NS(2)|breast(3)|central_nervous_system(3)|endometrium(21)|kidney(6)|large_intestine(18)|lung(60)|ovary(4)|pancreas(3)|prostate(5)|skin(8)|stomach(3)|upper_aerodigestive_tract(3) 139 Lung NSC(181;0.041)|all_lung(186;0.0581) STAD - Stomach adenocarcinoma(171;0.19) TGTCTTGGGGCGCCCAGCTCA 0.662000 4 22 0 0 1 0 0 DPY19L4 286148 broad.mit.edu 37 8 95789941 95789941 + Missense_Mutation SNP G G T TCGA-FD-A43N-01A-11D-A23U-08 TCGA-FD-A43N-10A-01D-A23U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7ad967f2-cade-41e1-9aaf-b651ebafb8ef 38660148-12e6-4dae-9041-075ca6892d9b g.chr8:95789941G>T ENST00000414645.2 + 14 1601 c.1502G>T c.(1501-1503)gGt>gTt p.G501V NM_181787.2 NP_861452.2 Q7Z388 D19L4_HUMAN dpy-19-like 4 (C. elegans) 501 integral to membrane breast(1)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(2)|lung(6)|ovary(2)|prostate(2) 21 Breast(36;3.85e-06) GCAGCATTTGGTGTATGTTCT 0.378000 79 445 6.44082e-31 7.24592e-31 1 1 0 TTN 7273 broad.mit.edu 37 2 179455906 179455906 + Silent SNP C C A TCGA-FD-A43N-01A-11D-A23U-08 TCGA-FD-A43N-10A-01D-A23U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7ad967f2-cade-41e1-9aaf-b651ebafb8ef 38660148-12e6-4dae-9041-075ca6892d9b g.chr2:179455906C>A ENST00000589042.1 - 304 60770 c.60546G>T c.(60544-60546)ctG>ctT p.L20182L TTN-AS1_ENST00000592689.1_RNA|TTN_ENST00000342175.6_Silent_p.L11309L|TTN_ENST00000591111.1_Silent_p.L18541L|TTN-AS1_ENST00000590807.1_RNA|TTN-AS1_ENST00000586452.1_RNA|TTN-AS1_ENST00000592630.1_RNA|TTN-AS1_ENST00000590932.1_RNA|TTN-AS1_ENST00000589907.1_RNA|TTN_ENST00000460472.2_Silent_p.L11117L|TTN-AS1_ENST00000591332.1_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN-AS1_ENST00000589234.1_RNA|TTN_ENST00000342992.6_Silent_p.L17614L|TTN_ENST00000359218.5_Silent_p.L11242L|TTN-AS1_ENST00000592750.1_RNA|TTN-AS1_ENST00000456053.1_RNA|TTN-AS1_ENST00000590743.1_RNA|TTN-AS1_ENST00000419746.1_RNA NM_001267550.1 NP_001254479.1 Q8WZ42 TITIN_HUMAN titin 18541 Fibronectin type-III 46. 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) GAGTAACATCCAGAATATTAA 0.423000 64 257 2.89935e-36 3.29014e-36 1 1 0 FSCN3 29999 broad.mit.edu 37 7 127235518 127235518 + Missense_Mutation SNP G G A TCGA-FD-A43N-01A-11D-A23U-08 TCGA-FD-A43N-10A-01D-A23U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7ad967f2-cade-41e1-9aaf-b651ebafb8ef 38660148-12e6-4dae-9041-075ca6892d9b g.chr7:127235518G>A ENST00000265825.5 + 2 521 c.302G>A c.(301-303)cGg>cAg p.R101Q FSCN3_ENST00000420086.2_5'UTR|FSCN3_ENST00000478328.1_3'UTR NM_020369.2 NP_065102.1 Q9NQT6 FSCN3_HUMAN fascin homolog 3, actin-bundling protein, testicular (Strongylocentrotus purpuratus) 101 actin cytoskeleton|cytoplasm actin filament binding|protein binding, bridging endometrium(2)|large_intestine(3)|liver(2)|lung(17)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(1) 30 CGTTTCCACCGGAACAGCAAG 0.562000 34 94 0 0 1 0 0 SYNE3 161176 broad.mit.edu 37 14 95923534 95923534 + Nonsense_Mutation SNP G G A TCGA-FD-A43N-01A-11D-A23U-08 TCGA-FD-A43N-10A-01D-A23U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7ad967f2-cade-41e1-9aaf-b651ebafb8ef 38660148-12e6-4dae-9041-075ca6892d9b g.chr14:95923534G>A ENST00000334258.5 - 4 783 c.769C>T c.(769-771)Cag>Tag p.Q257* SYNE3_ENST00000557275.1_Nonsense_Mutation_p.Q257*|SYNE3_ENST00000553340.1_Nonsense_Mutation_p.Q257* NM_152592.3 NP_689805.3 spectrin repeat containing, nuclear envelope family member 3 breast(1)|endometrium(2)|lung(25) 28 GAGAGGCGCTGCGTGATGGGC 0.577000 26 168 0 0 1 0 0 CAMK2A 815 broad.mit.edu 37 5 149607850 149607850 + Splice_Site SNP C C T TCGA-FD-A43N-01A-11D-A23U-08 TCGA-FD-A43N-10A-01D-A23U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7ad967f2-cade-41e1-9aaf-b651ebafb8ef 38660148-12e6-4dae-9041-075ca6892d9b g.chr5:149607850C>T ENST00000348628.6 - 16 1775 c.e16-1 CAMK2A_ENST00000351010.6_Splice_Site|CAMK2A_ENST00000398376.3_Splice_Site NM_015981.3|NM_171825.2 NP_057065.2|NP_741960.1 Q9UQM7 KCC2A_HUMAN calcium/calmodulin-dependent protein kinase II alpha interferon-gamma-mediated signaling pathway|positive regulation of NF-kappaB transcription factor activity|synaptic transmission cell junction|cytosol|endocytic vesicle membrane|nucleoplasm|presynaptic membrane ATP binding|calmodulin binding|calmodulin-dependent protein kinase activity cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(6)|skin(1)|stomach(1) 15 all_hematologic(541;0.224) KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101) GCACATCTTCCTGGGGGAAAG 0.557000 6 59 0 0 1 0 0 BRAP 8315 broad.mit.edu 37 12 112082174 112082174 + Silent SNP G G A TCGA-FD-A43N-01A-11D-A23U-08 TCGA-FD-A43N-10A-01D-A23U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7ad967f2-cade-41e1-9aaf-b651ebafb8ef 38660148-12e6-4dae-9041-075ca6892d9b g.chr12:112082174G>A ENST00000419234.4 - 12 1801 c.1608C>T c.(1606-1608)gtC>gtT p.V536V BRAP_ENST00000327551.6_Silent_p.V506V|BRAP_ENST00000539060.1_Silent_p.V357V NM_006768.3 NP_006759.3 Q7Z569 BRAP_HUMAN BRCA1 associated protein 536 MAPKKK cascade|negative regulation of signal transduction|Ras protein signal transduction cytoplasm|ubiquitin ligase complex identical protein binding|nuclear localization sequence binding|nucleotide binding|ubiquitin-protein ligase activity|zinc ion binding cervix(1)|endometrium(3)|kidney(2)|large_intestine(4)|lung(5)|prostate(2)|skin(1)|stomach(1)|urinary_tract(1) 20 GGTAGAACATGACGTCACGCA 0.552000 47 90 0 0 1 0 0 DMD 1756 broad.mit.edu 37 X 32407733 32407733 + Missense_Mutation SNP T T G TCGA-FD-A43N-01A-11D-A23U-08 TCGA-FD-A43N-10A-01D-A23U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7ad967f2-cade-41e1-9aaf-b651ebafb8ef 38660148-12e6-4dae-9041-075ca6892d9b g.chrX:32407733T>G ENST00000357033.4 - 32 4609 c.4403A>C c.(4402-4404)gAg>gCg p.E1468A DMD_ENST00000378677.2_Missense_Mutation_p.E1464A NM_000109.3|NM_004006.2|NM_004011.3|NM_004012.3|NM_004014.2 NP_000100.2|NP_003997|NP_004002.2|NP_004003.1|NP_004005.1 P11532 DMD_HUMAN dystrophin 1468 Interaction with SYNM (By similarity). muscle filament sliding|peptide biosynthetic process cell surface|costamere|cytoskeleton|cytosol|dystrophin-associated glycoprotein complex|sarcolemma actin binding|dystroglycan binding|nitric-oxide synthase binding|protein binding|structural constituent of cytoskeleton|structural constituent of muscle|zinc ion binding NS(2)|breast(3)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(17)|liver(1)|lung(25)|ovary(3)|pancreas(3)|prostate(2)|skin(1)|urinary_tract(2) 77 all_cancers(2;1.22e-16)|Acute lymphoblastic leukemia(2;4.65e-06)|all_hematologic(2;0.00108)|all_epithelial(3;0.00626)|all_neural(2;0.0189)|all_lung(315;0.182)|Glioma(3;0.203) TAGACGCTGCTCAAAATTGGC 0.378000 8 94 0 0 1 0 0 GCNT1 2650 broad.mit.edu 37 9 79117796 79117796 + Missense_Mutation SNP A A T TCGA-FD-A43N-01A-11D-A23U-08 TCGA-FD-A43N-10A-01D-A23U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7ad967f2-cade-41e1-9aaf-b651ebafb8ef 38660148-12e6-4dae-9041-075ca6892d9b g.chr9:79117796A>T ENST00000442371.1 + 3 1438 c.499A>T c.(499-501)Atg>Ttg p.M167L GCNT1_ENST00000444201.2_Missense_Mutation_p.M167L|GCNT1_ENST00000536223.1_Missense_Mutation_p.M167L|GCNT1_ENST00000376730.4_Missense_Mutation_p.M167L NM_001097634.1 NP_001091103.1 Q02742 GCNT1_HUMAN glucosaminyl (N-acetyl) transferase 1, core 2 167 Catalytic (By similarity). protein O-linked glycosylation Golgi membrane|integral to membrane beta-1,3-galactosyl-O-glycosyl-glycoprotein beta-1,6-N-acetylglucosaminyltransferase activity breast(2)|central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(6)|lung(11)|prostate(2)|urinary_tract(1) 30 AGCTGCAGTGATGGGCATCGC 0.478000 42 110 0 0 1 0 0 C5orf28 64417 broad.mit.edu 37 5 43454014 43454014 + Missense_Mutation SNP G G C TCGA-FD-A43N-01A-11D-A23U-08 TCGA-FD-A43N-10A-01D-A23U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7ad967f2-cade-41e1-9aaf-b651ebafb8ef 38660148-12e6-4dae-9041-075ca6892d9b g.chr5:43454014G>C ENST00000500337.2 - 4 389 c.58C>G c.(58-60)Ctt>Gtt p.L20V C5orf28_ENST00000511525.1_Intron|C5orf28_ENST00000397080.3_Missense_Mutation_p.L20V|C5orf28_ENST00000512085.1_Missense_Mutation_p.L20V|C5orf28_ENST00000537319.1_Intron|C5orf28_ENST00000510130.1_Intron Q0VDI3 CE028_HUMAN chromosome 5 open reading frame 28 20 integral to membrane breast(1)|kidney(1)|large_intestine(2)|lung(5) 9 Lung NSC(6;2.07e-05) CTGGAAATAAGAGATTCAGTG 0.438000 24 157 0 0 1 0 0 MED13L 23389 broad.mit.edu 37 12 116424266 116424266 + Silent SNP G G A TCGA-FD-A43N-01A-11D-A23U-08 TCGA-FD-A43N-10A-01D-A23U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7ad967f2-cade-41e1-9aaf-b651ebafb8ef 38660148-12e6-4dae-9041-075ca6892d9b g.chr12:116424266G>A ENST00000281928.3 - 19 4349 c.4143C>T c.(4141-4143)ccC>ccT p.P1381P NM_015335.4 NP_056150.1 Q71F56 MD13L_HUMAN mediator complex subunit 13-like 1381 Leucine-zipper. regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent NS(2)|breast(1)|endometrium(9)|kidney(3)|large_intestine(18)|lung(34)|ovary(4)|prostate(4)|skin(6)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2) 85 all_neural(191;0.117)|Medulloblastoma(191;0.163) BRCA - Breast invasive adenocarcinoma(302;0.0407) GAGTGGGGATGGGCAACGGCT 0.488000 16 94 0 0 1 0 0 LIPF 8513 broad.mit.edu 37 10 90427380 90427380 + Missense_Mutation SNP G G A TCGA-FD-A43N-01A-11D-A23U-08 TCGA-FD-A43N-10A-01D-A23U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7ad967f2-cade-41e1-9aaf-b651ebafb8ef 38660148-12e6-4dae-9041-075ca6892d9b g.chr10:90427380G>A ENST00000394375.3 + 4 303 c.190G>A c.(190-192)Gaa>Aaa p.E64K LIPF_ENST00000355843.2_Missense_Mutation_p.E64K|LIPF_ENST00000608620.1_Missense_Mutation_p.E54K|LIPF_ENST00000238983.4_Missense_Mutation_p.E54K NM_001198829.1 NP_001185758.1 P07098 LIPG_HUMAN lipase, gastric 54 lipid catabolic process|triglyceride metabolic process extracellular region lipid binding|triglyceride lipase activity NS(1)|cervix(1)|kidney(1)|large_intestine(4)|lung(6) 13 Colorectal(252;0.0161) Colorectal(12;3.91e-05)|COAD - Colon adenocarcinoma(12;5.43e-05) AGTTGTGACTGAAGATGGTTA 0.323000 17 140 0 0 1 0 0 FAM86DP 692099 broad.mit.edu 37 3 75472066 75472066 + RNA SNP G G C TCGA-FD-A43N-01A-11D-A23U-08 TCGA-FD-A43N-10A-01D-A23U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7ad967f2-cade-41e1-9aaf-b651ebafb8ef 38660148-12e6-4dae-9041-075ca6892d9b g.chr3:75472066G>C ENST00000459803.1 - 0 1075 NR_024241.1 TTCTTCCCATGAGATTGACTT 0.418000 37 101 0 0 1 0 0 IGSF9B 22997 broad.mit.edu 37 11 133790479 133790479 + Silent SNP G G A TCGA-FD-A43N-01A-11D-A23U-08 TCGA-FD-A43N-10A-01D-A23U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7ad967f2-cade-41e1-9aaf-b651ebafb8ef 38660148-12e6-4dae-9041-075ca6892d9b g.chr11:133790479G>A ENST00000321016.8 - 18 3371 c.3141C>T c.(3139-3141)ttC>ttT p.F1047F IGSF9B_ENST00000533871.2_Silent_p.F1047F Q9UPX0 TUTLB_HUMAN immunoglobulin superfamily, member 9B 1047 Pro-rich. integral to membrane|plasma membrane breast(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(18)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 44 all_hematologic(175;0.127) all_cancers(12;1.58e-21)|all_epithelial(12;5.17e-16)|all_lung(97;1.6e-05)|Lung NSC(97;3.86e-05)|Breast(109;0.000126)|Medulloblastoma(222;0.0245)|all_neural(223;0.0505)|Esophageal squamous(93;0.0559) Epithelial(10;7.19e-10)|BRCA - Breast invasive adenocarcinoma(10;9.69e-09)|all cancers(11;1.23e-08)|OV - Ovarian serous cystadenocarcinoma(99;0.00328)|Lung(977;0.221) CCAGCCCCCCGAAGGGGAATT 0.657000 73 45 0 0 1 0 0 CACNB4 785 broad.mit.edu 37 2 152737380 152737380 + Silent SNP G G A rs147647355 by1000genomes TCGA-FD-A43N-01A-11D-A23U-08 TCGA-FD-A43N-10A-01D-A23U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7ad967f2-cade-41e1-9aaf-b651ebafb8ef 38660148-12e6-4dae-9041-075ca6892d9b g.chr2:152737380G>A ENST00000360283.6 - 3 479 c.222C>T c.(220-222)gaC>gaT p.D74D CACNB4_ENST00000534999.1_Silent_p.D74D|CACNB4_ENST00000201943.5_Silent_p.D108D|CACNB4_ENST00000539935.1_Silent_p.D108D|CACNB4_ENST00000397327.2_Silent_p.D61D|CACNB4_ENST00000427385.1_Silent_p.D90D O00305 CACB4_HUMAN calcium channel, voltage-dependent, beta 4 subunit 108 axon guidance|membrane depolarization|synaptic transmission cytosol|internal side of plasma membrane|plasma membrane|synapse|voltage-gated calcium channel complex protein binding|voltage-gated calcium channel activity endometrium(1)|kidney(1)|large_intestine(3)|lung(4)|ovary(2) 11 BRCA - Breast invasive adenocarcinoma(221;0.156) Verapamil(DB00661) GCACATCCTCGTCCAGGGCGC 0.473000 22 48 0 0 1 0 0 NDC1 55706 broad.mit.edu 37 1 54291557 54291557 + Silent SNP G G A TCGA-FD-A43N-01A-11D-A23U-08 TCGA-FD-A43N-10A-01D-A23U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7ad967f2-cade-41e1-9aaf-b651ebafb8ef 38660148-12e6-4dae-9041-075ca6892d9b g.chr1:54291557G>A ENST00000371429.3 - 5 1106 c.508C>T c.(508-510)Cta>Tta p.L170L NDC1_ENST00000480952.1_5'UTR|NDC1_ENST00000234725.8_Silent_p.L55L|NDC1_ENST00000540001.1_Silent_p.L170L|NDC1_ENST00000537333.1_5'UTR NM_001168551.1|NM_018087.4 NP_001162023.1|NP_060557.3 NDC1 transmembrane nucleoporin CCAGTCAGTAGGAAAAAAAGA 0.368000 50 122 0 0 1 0 0 ANKRD17 26057 broad.mit.edu 37 4 74019789 74019789 + Missense_Mutation SNP C C G TCGA-FD-A43N-01A-11D-A23U-08 TCGA-FD-A43N-10A-01D-A23U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7ad967f2-cade-41e1-9aaf-b651ebafb8ef 38660148-12e6-4dae-9041-075ca6892d9b g.chr4:74019789C>G ENST00000358602.4 - 6 1158 c.1042G>C c.(1042-1044)Gat>Cat p.D348H ANKRD17_ENST00000330838.6_Missense_Mutation_p.D348H|ANKRD17_ENST00000509867.2_Missense_Mutation_p.D235H NM_032217.3 NP_115593.3 O75179 ANR17_HUMAN ankyrin repeat domain 17 348 interspecies interaction between organisms cytoplasm|nucleus RNA binding NS(3)|breast(2)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(15)|lung(39)|ovary(6)|pancreas(1)|prostate(3)|skin(5)|upper_aerodigestive_tract(3) 96 Breast(15;0.000295) Epithelial(6;8.86e-07)|OV - Ovarian serous cystadenocarcinoma(6;6.22e-06)|all cancers(17;1.51e-05)|Lung(101;0.103)|LUSC - Lung squamous cell carcinoma(112;0.154) TTTACAACATCTACATAGCCT 0.363000 32 216 0 0 1 0 0 SLC16A13 201232 broad.mit.edu 37 17 6941487 6941487 + Missense_Mutation SNP G G C TCGA-FD-A43N-01A-11D-A23U-08 TCGA-FD-A43N-10A-01D-A23U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7ad967f2-cade-41e1-9aaf-b651ebafb8ef 38660148-12e6-4dae-9041-075ca6892d9b g.chr17:6941487G>C ENST00000308027.6 + 3 668 c.360G>C c.(358-360)ttG>ttC p.L120F NM_201566.2 NP_963860.1 Q7RTY0 MOT13_HUMAN solute carrier family 16, member 13 120 integral to membrane|plasma membrane symporter activity haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|liver(2)|lung(3)|ovary(1)|skin(1)|stomach(1) 10 GCTGGGCTTTGACCTTCGCTC 0.587000 13 147 0 0 1 0 0 MMP10 4319 broad.mit.edu 37 11 102645974 102645974 + Silent SNP T T C TCGA-FD-A43N-01A-11D-A23U-08 TCGA-FD-A43N-10A-01D-A23U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7ad967f2-cade-41e1-9aaf-b651ebafb8ef 38660148-12e6-4dae-9041-075ca6892d9b g.chr11:102645974T>C ENST00000279441.4 - 7 1047 c.1011A>G c.(1009-1011)tcA>tcG p.S337S NM_002425.2 NP_002416.1 P09238 MMP10_HUMAN matrix metallopeptidase 10 (stromelysin 2) 337 Hemopexin-like 1. collagen catabolic process|proteolysis extracellular space|proteinaceous extracellular matrix calcium ion binding|metalloendopeptidase activity|zinc ion binding breast(2)|central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(4)|liver(2)|lung(6) 22 all_epithelial(12;0.00961) all_hematologic(158;0.00092)|Acute lymphoblastic leukemia(157;0.000967) Epithelial(9;0.0303)|Lung(13;0.0828)|all cancers(10;0.116)|LUSC - Lung squamous cell carcinoma(19;0.151) BRCA - Breast invasive adenocarcinoma(274;0.0145) CATCCAAATATGATGGAAGAG 0.348000 8 63 0 0 1 0 0 PIK3CG 5294 broad.mit.edu 37 7 106508381 106508381 + Missense_Mutation SNP G G C TCGA-FD-A43N-01A-11D-A23U-08 TCGA-FD-A43N-10A-01D-A23U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7ad967f2-cade-41e1-9aaf-b651ebafb8ef 38660148-12e6-4dae-9041-075ca6892d9b g.chr7:106508381G>C ENST00000359195.3 + 2 685 c.375G>C c.(373-375)tgG>tgC p.W125C PIK3CG_ENST00000440650.2_Missense_Mutation_p.W125C|PIK3CG_ENST00000496166.1_Missense_Mutation_p.W125C NM_001282427.1|NM_002649.2 NP_001269356.1|NP_002640.2 P48736 PK3CG_HUMAN phosphatidylinositol-4,5-bisphosphate 3-kinase, catalytic subunit gamma 125 G-protein coupled receptor protein signaling pathway|phosphatidylinositol-mediated signaling|platelet activation phosphatidylinositol 3-kinase complex 1-phosphatidylinositol-3-kinase activity|ATP binding|phosphatidylinositol-4,5-bisphosphate 3-kinase activity|protein binding breast(7)|central_nervous_system(9)|cervix(1)|endometrium(6)|kidney(4)|large_intestine(16)|liver(4)|lung(59)|ovary(4)|pancreas(4)|prostate(3)|skin(6)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(1) 132 TGCGCTACTGGAAGGCCACGC 0.637000 31 48 0 0 1 0 0 APOBR 55911 broad.mit.edu 37 16 28508617 28508617 + Missense_Mutation SNP G G A TCGA-FD-A43N-01A-11D-A23U-08 TCGA-FD-A43N-10A-01D-A23U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7ad967f2-cade-41e1-9aaf-b651ebafb8ef 38660148-12e6-4dae-9041-075ca6892d9b g.chr16:28508617G>A ENST00000564831.1 + 2 2288 c.2255G>A c.(2254-2256)cGt>cAt p.R752H APOBR_ENST00000431282.1_Missense_Mutation_p.R743H|APOBR_ENST00000328423.5_Missense_Mutation_p.R743H NM_018690.3 NP_061160.3 Q0VD83 APOBR_HUMAN apolipoprotein B receptor 743 Glu-rich. cholesterol metabolic process|lipid transport chylomicron|low-density lipoprotein particle|plasma membrane|very-low-density lipoprotein particle breast(1)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(11)|prostate(1)|skin(2)|stomach(1) 29 CTCCCGGACCGTGAGGATGCA 0.617000 3 14 0 0 1 0 0 NKPD1 284353 broad.mit.edu 37 19 45655625 45655625 + Silent SNP G G C TCGA-FD-A43N-01A-11D-A23U-08 TCGA-FD-A43N-10A-01D-A23U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7ad967f2-cade-41e1-9aaf-b651ebafb8ef 38660148-12e6-4dae-9041-075ca6892d9b g.chr19:45655625G>C ENST00000317951.4 - 4 2069 c.2070C>G c.(2068-2070)ctC>ctG p.L690L NKPD1_ENST00000589776.1_Silent_p.L468L|NKPD1_ENST00000438936.2_Silent_p.L468L|NKPD1_ENST00000429338.1_Silent_p.L468L NM_198478.3 NP_940880.3 NTPase, KAP family P-loop domain containing 1 endometrium(1)|lung(4)|prostate(2)|urinary_tract(1) 8 Ovarian(192;0.0728)|all_neural(266;0.112) OV - Ovarian serous cystadenocarcinoma(262;0.00863)|GBM - Glioblastoma multiforme(486;0.231) AAACGTCCCAGAggcgcgcgc 0.711000 18 14 0 0 1 0 0 DHRS4L1 728635 broad.mit.edu 37 14 24517443 24517443 + RNA SNP G G C TCGA-FD-A43N-01A-11D-A23U-08 TCGA-FD-A43N-10A-01D-A23U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7ad967f2-cade-41e1-9aaf-b651ebafb8ef 38660148-12e6-4dae-9041-075ca6892d9b g.chr14:24517443G>C ENST00000558293.1 + 0 516 NR_102693.1 AGGGTACAGAGAGTGAGAGAG 0.537000 4 72 0 0 1 0 0 HIVEP3 59269 broad.mit.edu 37 1 42047275 42047275 + Missense_Mutation SNP C C A TCGA-FD-A43N-01A-11D-A23U-08 TCGA-FD-A43N-10A-01D-A23U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7ad967f2-cade-41e1-9aaf-b651ebafb8ef 38660148-12e6-4dae-9041-075ca6892d9b g.chr1:42047275C>A ENST00000372584.1 - 3 4208 c.3194G>T c.(3193-3195)gGa>gTa p.G1065V HIVEP3_ENST00000429157.2_Missense_Mutation_p.G1065V|HIVEP3_ENST00000247584.5_Missense_Mutation_p.G1065V|HIVEP3_ENST00000372583.1_Missense_Mutation_p.G1065V NM_001127714.2 NP_001121186.1 Q5T1R4 ZEP3_HUMAN human immunodeficiency virus type I enhancer binding protein 3 1065 No DNA binding activity or transactivation activity, but complete prevention of TRAF-dependent NF-Kappa-B activation; associates with TRAF2 and JUN (By similarity). positive regulation of transcription, DNA-dependent|transcription, DNA-dependent cytoplasm|nucleus zinc ion binding NS(2)|breast(3)|central_nervous_system(5)|endometrium(13)|kidney(3)|large_intestine(13)|lung(33)|ovary(4)|prostate(5)|skin(2)|stomach(1)|upper_aerodigestive_tract(1) 85 Ovarian(52;0.00769)|all_hematologic(146;0.109)|Acute lymphoblastic leukemia(166;0.155) Myeloproliferative disorder(586;0.0367) CTCCTGTCTTCCCTTGGGGGC 0.582000 20 95 2.94398e-08 3.11085e-08 1 1 0 DST 667 broad.mit.edu 37 6 56418362 56418362 + Missense_Mutation SNP C C G TCGA-FD-A43N-01A-11D-A23U-08 TCGA-FD-A43N-10A-01D-A23U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7ad967f2-cade-41e1-9aaf-b651ebafb8ef 38660148-12e6-4dae-9041-075ca6892d9b g.chr6:56418362C>G ENST00000370754.5 - 61 15134 c.15135G>C c.(15133-15135)aaG>aaC p.K5045N DST_ENST00000244364.6_Missense_Mutation_p.K2453N|DST_ENST00000370769.4_Missense_Mutation_p.K4867N|DST_ENST00000421834.2_Missense_Mutation_p.K2779N|DST_ENST00000446842.2_Missense_Mutation_p.K4541N|DST_ENST00000361203.3_Missense_Mutation_p.K4865N|DST_ENST00000312431.6_3'UTR|DST_ENST00000370788.2_Missense_Mutation_p.K2779N Q03001 DYST_HUMAN dystonin 4865 cell adhesion|cell cycle arrest|cell motility|hemidesmosome assembly|integrin-mediated signaling pathway|intermediate filament cytoskeleton organization|maintenance of cell polarity|microtubule cytoskeleton organization|response to wounding actin cytoskeleton|axon|axon part|basement membrane|cell cortex|cell leading edge|cytoplasmic membrane-bounded vesicle|endoplasmic reticulum membrane|hemidesmosome|integral to membrane|intermediate filament|intermediate filament cytoskeleton|microtubule cytoskeleton|microtubule plus end|nuclear envelope|sarcomere|Z disc actin binding|calcium ion binding|integrin binding|microtubule plus-end binding|protein binding|protein C-terminus binding|protein homodimerization activity NS(1)|breast(5)|central_nervous_system(8)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(22)|lung(43)|ovary(7)|prostate(1)|skin(4)|upper_aerodigestive_tract(3) 105 Lung NSC(77;0.103) LUSC - Lung squamous cell carcinoma(124;0.0485)|Lung(124;0.0956) GCTCTTCTTTCTTTGTATCCA 0.388000 60 177 0 0 1 0 0 UGGT1 56886 broad.mit.edu 37 2 128880800 128880800 + Nonsense_Mutation SNP G G T TCGA-FD-A43N-01A-11D-A23U-08 TCGA-FD-A43N-10A-01D-A23U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7ad967f2-cade-41e1-9aaf-b651ebafb8ef 38660148-12e6-4dae-9041-075ca6892d9b g.chr2:128880800G>T ENST00000375990.3 + 11 1445 c.1042G>T c.(1042-1044)Gaa>Taa p.E348* UGGT1_ENST00000259253.6_Nonsense_Mutation_p.E372* Q9NYU2 UGGG1_HUMAN UDP-glucose glycoprotein glucosyltransferase 1 372 'de novo' posttranslational protein folding|post-translational protein modification|protein N-linked glycosylation via asparagine endoplasmic reticulum lumen|ER-Golgi intermediate compartment UDP-glucose:glycoprotein glucosyltransferase activity|unfolded protein binding NS(1)|breast(1)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(9)|large_intestine(14)|lung(20)|ovary(1)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1) 63 ACTTAGAACCGAAGTGGAAGA 0.323000 16 58 2.35188e-11 2.53653e-11 1 1 0 HAO2 51179 broad.mit.edu 37 1 119927526 119927526 + Silent SNP G G A TCGA-FD-A43N-01A-11D-A23U-08 TCGA-FD-A43N-10A-01D-A23U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7ad967f2-cade-41e1-9aaf-b651ebafb8ef 38660148-12e6-4dae-9041-075ca6892d9b g.chr1:119927526G>A ENST00000361035.4 + 5 733 c.450G>A c.(448-450)ctG>ctA p.L150L HAO2_ENST00000325945.3_Silent_p.L137L Q9NYQ3 HAOX2_HUMAN hydroxyacid oxidase 2 (long chain) 137 FMN hydroxy acid dehydrogenase. fatty acid alpha-oxidation peroxisome (S)-2-hydroxy-acid oxidase activity breast(1)|endometrium(6)|kidney(2)|large_intestine(5)|lung(10)|ovary(2)|skin(2)|upper_aerodigestive_tract(2) 30 all_neural(166;0.187) all_lung(203;1.06e-06)|Lung NSC(69;7.5e-06)|all_epithelial(167;0.000284) Lung(183;0.0155)|LUSC - Lung squamous cell carcinoma(189;0.0856) ACCTGCAGCTGAACAAACAGT 0.478000 84 120 0 0 1 0 0 HIST2H2BF 440689 broad.mit.edu 37 1 149783795 149783795 + Silent SNP C C T TCGA-FD-A43N-01A-11D-A23U-08 TCGA-FD-A43N-10A-01D-A23U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7ad967f2-cade-41e1-9aaf-b651ebafb8ef 38660148-12e6-4dae-9041-075ca6892d9b g.chr1:149783795C>T ENST00000427880.2 - 1 130 c.84G>A c.(82-84)aaG>aaA p.K28K HIST2H2BF_ENST00000545683.1_Silent_p.K28K|HIST2H2BF_ENST00000369167.1_Silent_p.K28K|HIST2H2BF_ENST00000469483.1_5'UTR Q5QNW6 H2B2F_HUMAN histone cluster 2, H2bf 28 nucleosome assembly nucleosome|nucleus DNA binding breast(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(6)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 15 Breast(34;0.0124)|all_hematologic(923;0.127) GCTTGCGCTTCTTGCCGTCCT 0.562000 144 245 0 0 1 0 0 MARCKS 4082 broad.mit.edu 37 6 114178958 114178958 + Missense_Mutation SNP G G C TCGA-FD-A43N-01A-11D-A23U-08 TCGA-FD-A43N-10A-01D-A23U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7ad967f2-cade-41e1-9aaf-b651ebafb8ef 38660148-12e6-4dae-9041-075ca6892d9b g.chr6:114178958G>C ENST00000368635.4 + 1 418 c.37G>C c.(37-39)Gaa>Caa p.E13Q NM_002356.5 NP_002347.5 P29966 MARCS_HUMAN myristoylated alanine-rich protein kinase C substrate 13 energy reserve metabolic process|regulation of insulin secretion actin cytoskeleton|plasma membrane actin filament binding|calmodulin binding breast(1)|kidney(1)|large_intestine(1)|lung(1) 4 all_cancers(87;7.65e-05)|all_epithelial(87;0.000296)|all_hematologic(75;0.0172)|Colorectal(196;0.0317)|all_lung(197;0.198) Epithelial(106;1.59e-07)|all cancers(137;9.85e-07)|OV - Ovarian serous cystadenocarcinoma(136;0.000322) AGCGAAGGGAGAAGCCGCCGC 0.562000 8 17 0 0 1 0 0 TP53 7157 broad.mit.edu 37 17 7577077 7577077 + Missense_Mutation SNP C C G TCGA-FD-A43N-01A-11D-A23U-08 TCGA-FD-A43N-10A-01D-A23U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7ad967f2-cade-41e1-9aaf-b651ebafb8ef 38660148-12e6-4dae-9041-075ca6892d9b g.chr17:7577077C>G ENST00000420246.2 - 8 993 c.861G>C c.(859-861)gaG>gaC p.E287D TP53_ENST00000413465.2_Intron|TP53_ENST00000445888.2_Missense_Mutation_p.E287D|TP53_ENST00000455263.2_Missense_Mutation_p.E287D|TP53_ENST00000359597.4_Missense_Mutation_p.E287D|TP53_ENST00000269305.4_Missense_Mutation_p.E287D NM_001126114.2|NM_001276696.1 NP_001119586.1|NP_001263625.1 P04637 P53_HUMAN tumor protein p53 287 Interaction with AXIN1 (By similarity).|Interaction with E4F1.|Interaction with HIPK1 (By similarity). E -> A (in a sporadic cancer; somatic mutation).|E -> D (in sporadic cancers; somatic mutation).|E -> G (in sporadic cancers; somatic mutation).|E -> K (in sporadic cancers; somatic mutation).|E -> V (in sporadic cancers; somatic mutation). activation of caspase activity by cytochrome c|base-excision repair|blood coagulation|cell cycle arrest|cell differentiation|cell proliferation|cellular protein localization|cellular response to drug|cellular response to glucose starvation|cellular response to hypoxia|cellular response to ionizing radiation|cellular response to UV|determination of adult lifespan|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|ER overload response|interspecies interaction between organisms|negative regulation of apoptosis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of helicase activity|negative regulation of transcription from RNA polymerase II promoter|nucleotide-excision repair|oxidative stress-induced premature senescence|positive regulation of histone deacetylation|positive regulation of neuron apoptosis|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of reactive oxygen species metabolic process|positive regulation of thymocyte apoptosis|positive regulation of transcription from RNA polymerase II promoter|protein localization|protein tetramerization|Ras protein signal transduction|regulation of mitochondrial membrane permeability|replicative senescence|response to antibiotic|response to gamma radiation|response to X-ray cytoplasm|cytosol|endoplasmic reticulum|insoluble fraction|mitochondrion|nuclear chromatin|nuclear matrix|nucleolus|nucleus|PML body|protein complex|replication fork ATP binding|chaperone binding|chromatin binding|copper ion binding|damaged DNA binding|DNA strand annealing activity|histone acetyltransferase binding|p53 binding|protease binding|protein binding|protein heterodimerization activity|protein kinase binding|protein N-terminus binding|protein phosphatase 2A binding|RNA polymerase II transcription factor binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|transcription repressor activity|ubiquitin protein ligase binding|zinc ion binding p.N288fs*13(17)|p.0?(8)|p.E287E(5)|p.?(2)|p.E286fs*17(2)|p.E287D(2)|p.R283fs*16(2)|p.N288fs*18(1)|p.L265_K305del41(1)|p.N288fs*15(1)|p.R282_E287delRRTEEE(1)|p.T284_G293del10(1)|p.E285_L289delEEENL(1)|p.R283fs*56(1)|p.E285fs*13(1)|p.E287fs*17(1)|p.V272_K292del21(1)|p.E285_N288delEEEN(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) TGCGGAGATTCTCTTCCTCTG 0.567000 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) 49 45 0 0 1 0 0 TP53 7157 broad.mit.edu 37 17 7577085 7577085 + Missense_Mutation SNP C C T rs112431538 TCGA-FD-A43N-01A-11D-A23U-08 TCGA-FD-A43N-10A-01D-A23U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7ad967f2-cade-41e1-9aaf-b651ebafb8ef 38660148-12e6-4dae-9041-075ca6892d9b g.chr17:7577085C>T ENST00000420246.2 - 8 985 c.853G>A c.(853-855)Gag>Aag p.E285K TP53_ENST00000413465.2_Intron|TP53_ENST00000445888.2_Missense_Mutation_p.E285K|TP53_ENST00000455263.2_Missense_Mutation_p.E285K|TP53_ENST00000359597.4_Missense_Mutation_p.E285K|TP53_ENST00000269305.4_Missense_Mutation_p.E285K NM_001126114.2|NM_001276696.1 NP_001119586.1|NP_001263625.1 P04637 P53_HUMAN tumor protein p53 285 Interaction with AXIN1 (By similarity).|Interaction with E4F1.|Interaction with HIPK1 (By similarity). E -> A (in a sporadic cancer; somatic mutation).|E -> D (in sporadic cancers; somatic mutation).|E -> G (in sporadic cancers; somatic mutation).|E -> K (in sporadic cancers; somatic mutation).|E -> Q (in LFS; germline mutation and in sporadic cancers; somatic mutation).|E -> V (in sporadic cancers; somatic mutation). activation of caspase activity by cytochrome c|base-excision repair|blood coagulation|cell cycle arrest|cell differentiation|cell proliferation|cellular protein localization|cellular response to drug|cellular response to glucose starvation|cellular response to hypoxia|cellular response to ionizing radiation|cellular response to UV|determination of adult lifespan|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|ER overload response|interspecies interaction between organisms|negative regulation of apoptosis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of helicase activity|negative regulation of transcription from RNA polymerase II promoter|nucleotide-excision repair|oxidative stress-induced premature senescence|positive regulation of histone deacetylation|positive regulation of neuron apoptosis|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of reactive oxygen species metabolic process|positive regulation of thymocyte apoptosis|positive regulation of transcription from RNA polymerase II promoter|protein localization|protein tetramerization|Ras protein signal transduction|regulation of mitochondrial membrane permeability|replicative senescence|response to antibiotic|response to gamma radiation|response to X-ray cytoplasm|cytosol|endoplasmic reticulum|insoluble fraction|mitochondrion|nuclear chromatin|nuclear matrix|nucleolus|nucleus|PML body|protein complex|replication fork ATP binding|chaperone binding|chromatin binding|copper ion binding|damaged DNA binding|DNA strand annealing activity|histone acetyltransferase binding|p53 binding|protease binding|protein binding|protein heterodimerization activity|protein kinase binding|protein N-terminus binding|protein phosphatase 2A binding|RNA polymerase II transcription factor binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|transcription repressor activity|ubiquitin protein ligase binding|zinc ion binding p.E285K(111)|p.E285*(24)|p.0?(8)|p.E285Q(4)|p.?(2)|p.R283fs*16(2)|p.C275fs*20(1)|p.R282_E287delRRTEEE(1)|p.L265_K305del41(1)|p.T284fs*57(1)|p.T284_G293del10(1)|p.E285_L289delEEENL(1)|p.E285fs*60(1)|p.G279fs*59(1)|p.R283fs*56(1)|p.E285fs*20(1)|p.E285fs*13(1)|p.R283fs*59(1)|p.V272_K292del21(1)|p.E285_N288delEEEN(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) TTCTCTTCCTCTGTGCGCCGG 0.562000 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) 48 39 0 0 1 0 0 NLRP5 126206 broad.mit.edu 37 19 56572822 56572822 + Silent SNP C C G TCGA-FD-A43N-01A-11D-A23U-08 TCGA-FD-A43N-10A-01D-A23U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7ad967f2-cade-41e1-9aaf-b651ebafb8ef 38660148-12e6-4dae-9041-075ca6892d9b g.chr19:56572822C>G ENST00000390649.3 + 15 3531 c.3531C>G c.(3529-3531)ctC>ctG p.L1177L NM_153447.4 NP_703148.4 P59047 NALP5_HUMAN NLR family, pyrin domain containing 5 1177 mitochondrion|nucleolus ATP binding breast(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|ovary(5)|skin(2)|stomach(4)|upper_aerodigestive_tract(2) 25 Colorectal(82;3.46e-05)|Ovarian(87;0.0481)|Renal(1328;0.157) GBM - Glioblastoma multiforme(193;0.0326) TGCAGCTACTCAAGCCCCGAG 0.512000 52 84 0 0 1 0 0 ITGAL 3683 broad.mit.edu 37 16 30486720 30486720 + Splice_Site SNP A A G TCGA-FD-A43N-01A-11D-A23U-08 TCGA-FD-A43N-10A-01D-A23U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7ad967f2-cade-41e1-9aaf-b651ebafb8ef 38660148-12e6-4dae-9041-075ca6892d9b g.chr16:30486720A>G ENST00000356798.6 + 3 438 c.258A>G c.(256-258)agA>agG p.R86R ITGAL_ENST00000454514.2_Splice_Site_p.R86R|ITGAL_ENST00000358164.5_Splice_Site_p.R86R|ITGAL_ENST00000433423.2_Intron NM_002209.2 NP_002200.2 P20701 ITAL_HUMAN integrin, alpha L (antigen CD11A (p180), lymphocyte function-associated antigen 1; alpha polypeptide) 86 blood coagulation|heterophilic cell-cell adhesion|inflammatory response|integrin-mediated signaling pathway|leukocyte cell-cell adhesion|leukocyte migration|regulation of immune response|T cell activation via T cell receptor contact with antigen bound to MHC molecule on antigen presenting cell integrin complex cell adhesion molecule binding|receptor activity breast(1)|central_nervous_system(3)|cervix(1)|endometrium(10)|kidney(4)|large_intestine(12)|lung(32)|ovary(3)|prostate(4)|skin(4)|stomach(1)|upper_aerodigestive_tract(1) 76 Efalizumab(DB00095) TCACCCTGAGAGGTGAGTAAC 0.617000 19 128 0 0 1 0 0 TCEA3 6920 broad.mit.edu 37 1 23735166 23735166 + Missense_Mutation SNP G G A TCGA-FD-A43N-01A-11D-A23U-08 TCGA-FD-A43N-10A-01D-A23U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7ad967f2-cade-41e1-9aaf-b651ebafb8ef 38660148-12e6-4dae-9041-075ca6892d9b g.chr1:23735166G>A ENST00000450454.2 - 5 540 c.434C>T c.(433-435)tCg>tTg p.S145L TCEA3_ENST00000461794.1_Missense_Mutation_p.S108L|TCEA3_ENST00000374601.3_Missense_Mutation_p.S145L NM_003196.1 NP_003187.1 O75764 TCEA3_HUMAN transcription elongation factor A (SII), 3 145 Ser-rich. regulation of transcription elongation, DNA-dependent|regulation of transcription from RNA polymerase II promoter|transcription elongation, DNA-dependent nucleus DNA binding|translation elongation factor activity|zinc ion binding endometrium(1)|kidney(1)|large_intestine(1)|lung(3)|urinary_tract(1) 7 Colorectal(325;3.46e-05)|Lung NSC(340;4.16e-05)|all_lung(284;6.68e-05)|Renal(390;0.000219)|Breast(348;0.00262)|Ovarian(437;0.0054)|Myeloproliferative disorder(586;0.0255) UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|OV - Ovarian serous cystadenocarcinoma(117;1.6e-25)|Colorectal(126;8.32e-08)|COAD - Colon adenocarcinoma(152;4.29e-06)|GBM - Glioblastoma multiforme(114;9e-05)|BRCA - Breast invasive adenocarcinoma(304;0.00112)|KIRC - Kidney renal clear cell carcinoma(1967;0.00424)|STAD - Stomach adenocarcinoma(196;0.0145)|READ - Rectum adenocarcinoma(331;0.0686)|Lung(427;0.0963)|LUSC - Lung squamous cell carcinoma(448;0.198) CCTTTCCACCGATGGTCTTTT 0.483000 6 33 0 0 1 0 0 ARID1A 8289 broad.mit.edu 37 1 27100816 27100821 + Splice_Site DEL TTAGAA TTAGAA - TCGA-FD-A43N-01A-11D-A23U-08 TCGA-FD-A43N-10A-01D-A23U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7ad967f2-cade-41e1-9aaf-b651ebafb8ef 38660148-12e6-4dae-9041-075ca6892d9b g.chr1:27100816_27100821delTTAGAA ENST00000324856.7 + 18 4472_4474 c.4101_4103delTTAGAA c.(4099-4104)cattag>cag p.1367_1368H*>Q ARID1A_ENST00000457599.2_Intron|ARID1A_ENST00000374152.2_Splice_Site_p.984_985H*>Q|ARID1A_ENST00000540690.1_Intron NM_006015.4 NP_006006.3 O14497 ARI1A_HUMAN AT rich interactive domain 1A (SWI-like) 1367 Gln-rich. 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) TGTCTCTGCCTTAGAATTACAAGCGG 0.549 """Mis, N, F, S, D""" """clear cell ovarian carcinoma, RCC""" 19 86 --- --- --- --- ARID1A 8289 broad.mit.edu 37 1 27101375 27101375 + Frame_Shift_Del DEL C C - TCGA-FD-A43N-01A-11D-A23U-08 TCGA-FD-A43N-10A-01D-A23U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7ad967f2-cade-41e1-9aaf-b651ebafb8ef 38660148-12e6-4dae-9041-075ca6892d9b g.chr1:27101375delC ENST00000324856.7 + 18 5028 c.4657delC c.(4657-4659)cccfs p.P1554fs ARID1A_ENST00000457599.2_Intron|ARID1A_ENST00000374152.2_Frame_Shift_Del_p.P1171fs|ARID1A_ENST00000540690.1_Intron NM_006015.4 NP_006006.3 O14497 ARI1A_HUMAN AT rich interactive domain 1A (SWI-like) 1554 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) CACACGCCAGCCCCCATATGG 0.602 """Mis, N, F, S, D""" """clear cell ovarian carcinoma, RCC""" 59 83 --- --- --- --- KIAA0907 22889 broad.mit.edu 37 1 155886422 155886423 + Frame_Shift_Del DEL CT CT - TCGA-FD-A43N-01A-11D-A23U-08 TCGA-FD-A43N-10A-01D-A23U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7ad967f2-cade-41e1-9aaf-b651ebafb8ef 38660148-12e6-4dae-9041-075ca6892d9b g.chr1:155886422_155886423delCT ENST00000368320.3 - 12 1571_1572 c.1546_1547delAG c.(1546-1548)aggfs p.R516fs KIAA0907_ENST00000368321.3_Frame_Shift_Del_p.R516fs Q7Z7F0 K0907_HUMAN KIAA0907 516 p.R516fs*21(1) breast(1)|endometrium(2)|kidney(1)|large_intestine(4)|liver(1)|lung(11)|urinary_tract(1) 21 Hepatocellular(266;0.133)|all_hematologic(923;0.145)|all_neural(408;0.195) OV - Ovarian serous cystadenocarcinoma(3;8.82e-06) TTACCTGTCCCTCTCTCTCTCT 0.396 10 378 --- --- --- --- SLAMF1 6504 broad.mit.edu 37 1 160589601 160589601 + Frame_Shift_Del DEL T T - TCGA-FD-A43N-01A-11D-A23U-08 TCGA-FD-A43N-10A-01D-A23U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7ad967f2-cade-41e1-9aaf-b651ebafb8ef 38660148-12e6-4dae-9041-075ca6892d9b g.chr1:160589601delT ENST00000302035.6 - 5 1178 c.829delA c.(829-831)agcfs p.S277fs SLAMF1_ENST00000235739.5_Frame_Shift_Del_p.S247fs|SLAMF1_ENST00000538290.1_Intron|SLAMF1_ENST00000355199.3_Frame_Shift_Del_p.S277fs NM_003037.2 NP_003028.1 Q13291 SLAF1_HUMAN signaling lymphocytic activation molecule family member 1 277 interspecies interaction between organisms|lymphocyte activation|positive regulation of cell proliferation integral to membrane antigen binding|transmembrane receptor activity breast(2)|endometrium(4)|kidney(1)|large_intestine(5)|lung(10)|ovary(1)|skin(1)|upper_aerodigestive_tract(1) 25 all_cancers(52;4.94e-17)|all_hematologic(112;0.093) BRCA - Breast invasive adenocarcinoma(70;0.0175) ATCGTAAGGCTTTTTTTTTCC 0.433 10 383 --- --- --- --- RBM45 129831 broad.mit.edu 37 2 178988920 178988920 + Frame_Shift_Del DEL A A - TCGA-FD-A43N-01A-11D-A23U-08 TCGA-FD-A43N-10A-01D-A23U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7ad967f2-cade-41e1-9aaf-b651ebafb8ef 38660148-12e6-4dae-9041-075ca6892d9b g.chr2:178988920delA ENST00000286070.5 + 8 1227 c.1135delA c.(1135-1137)aaafs p.K381fs NM_152945.2 NP_694453.2 Q8IUH3 RBM45_HUMAN RNA binding motif protein 45 383 cell differentiation|nervous system development cytoplasm|nucleus nucleotide binding|RNA binding p.A382fs*7(2)|p.?(1) endometrium(3)|kidney(2)|large_intestine(8)|lung(10)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1) 27 OV - Ovarian serous cystadenocarcinoma(117;0.00854)|Epithelial(96;0.00957)|all cancers(119;0.037) TCCATCATGCAAAAAAAAAGC 0.353 7 180 --- --- --- --- FYCO1 79443 broad.mit.edu 37 3 46014656 46014657 + Frame_Shift_Del DEL AG AG - TCGA-FD-A43N-01A-11D-A23U-08 TCGA-FD-A43N-10A-01D-A23U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7ad967f2-cade-41e1-9aaf-b651ebafb8ef 38660148-12e6-4dae-9041-075ca6892d9b g.chr3:46014656_46014657delAG ENST00000296137.2 - 6 667_668 c.462_463delCT c.(460-465)ctctatfs p.Y155fs FYCO1_ENST00000535325.1_Frame_Shift_Del_p.Y155fs NM_024513.3 NP_078789.2 Q9BQS8 FYCO1_HUMAN FYVE and coiled-coil domain containing 1 155 RUN. Y -> C (in Ref. 2; CAD91151). transport integral to membrane metal ion binding|protein binding p.L154L(1) NS(4)|breast(3)|central_nervous_system(1)|endometrium(11)|kidney(2)|large_intestine(9)|lung(17)|prostate(4)|skin(2)|upper_aerodigestive_tract(1) 54 BRCA - Breast invasive adenocarcinoma(193;0.00147)|KIRC - Kidney renal clear cell carcinoma(197;0.0272)|Kidney(197;0.0323) GTCAGCTCATAGAGTTGGCCCA 0.475 62 105 --- --- --- --- TMEM175 84286 broad.mit.edu 37 4 947122 947133 + In_Frame_Del DEL TCTCTCTTCTTT TCTCTCTTCTTT - TCGA-FD-A43N-01A-11D-A23U-08 TCGA-FD-A43N-10A-01D-A23U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7ad967f2-cade-41e1-9aaf-b651ebafb8ef 38660148-12e6-4dae-9041-075ca6892d9b g.chr4:947122_947133delTCTCTCTTCTTT ENST00000264771.4 + 8 792_803 c.607_618delTCTCTCTTCTTT c.(607-618)tctctcttctttdel p.SLFF203del TMEM175_ENST00000504180.1_3'UTR|TMEM175_ENST00000508204.1_In_Frame_Del_p.SLFF121del|TMEM175_ENST00000515740.1_In_Frame_Del_p.SLFF87del NM_032326.2 NP_115702.1 Q9BSA9 TM175_HUMAN transmembrane protein 175 203 integral to membrane NS(1)|endometrium(1)|large_intestine(2)|lung(6)|pancreas(1)|upper_aerodigestive_tract(3) 14 OV - Ovarian serous cystadenocarcinoma(23;0.0158) GGCCATCTTCTCTCTCTTCTTTGTCCCCTTGG 0.656 8 83 --- --- --- --- PHOX2B 8929 broad.mit.edu 37 4 41749376 41749376 + Frame_Shift_Del DEL G G - TCGA-FD-A43N-01A-11D-A23U-08 TCGA-FD-A43N-10A-01D-A23U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7ad967f2-cade-41e1-9aaf-b651ebafb8ef 38660148-12e6-4dae-9041-075ca6892d9b g.chr4:41749376delG ENST00000226382.2 - 2 778 c.419delC c.(418-420)gcgfs p.A140fs NM_003924.3 NP_003915.2 Q99453 PHX2B_HUMAN paired-like homeobox 2b 140 positive regulation of transcription from RNA polymerase II promoter nuclear chromatin RNA polymerase II regulatory region sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription cofactor activity p.A140V(1) autonomic_ganglia(7)|central_nervous_system(1)|endometrium(2)|large_intestine(5)|lung(11)|ovary(2)|skin(1)|urinary_tract(1) 30 CTGGACTCGCGCCTCTGTGAG 0.642 """Mis, F""" neuroblastoma neuroblastoma congenital central hypoventilation syndrome Neuroblastoma, Familial Clustering of;Congenital Central Hypoventilation Syndrome 10 127 --- --- --- --- CDKN2AIPNL 91368 broad.mit.edu 37 5 133747459 133747459 + Frame_Shift_Del DEL G G - TCGA-FD-A43N-01A-11D-A23U-08 TCGA-FD-A43N-10A-01D-A23U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7ad967f2-cade-41e1-9aaf-b651ebafb8ef 38660148-12e6-4dae-9041-075ca6892d9b g.chr5:133747459delG ENST00000458198.2 - 1 130 c.87delC c.(85-87)tccfs p.S29fs CDKN2AIPNL_ENST00000395009.3_Frame_Shift_Del_p.S29fs NM_080656.2 NP_542387.1 Q96HQ2 C2AIL_HUMAN CDKN2A interacting protein N-terminal like 29 central_nervous_system(1)|kidney(2)|prostate(1) 4 KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365) TCTCTGAGTAGGAGCGGAACT 0.701 OREG0016789 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 7 30 --- --- --- --- PCDHA12 56137 broad.mit.edu 37 5 140255631 140255631 + Frame_Shift_Del DEL C C - TCGA-FD-A43N-01A-11D-A23U-08 TCGA-FD-A43N-10A-01D-A23U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7ad967f2-cade-41e1-9aaf-b651ebafb8ef 38660148-12e6-4dae-9041-075ca6892d9b g.chr5:140255631delC ENST00000398631.2 + 1 574 c.574delC c.(574-576)cctfs p.P192fs PCDHA2_ENST00000526136.1_Intron|PCDHA1_ENST00000394633.3_Intron|PCDHA9_ENST00000532602.1_Intron|PCDHA6_ENST00000529310.1_Intron|PCDHA6_ENST00000527624.1_Intron|PCDHA10_ENST00000307360.5_Intron|PCDHA4_ENST00000530339.1_Intron|PCDHA10_ENST00000506939.2_Intron|PCDHA1_ENST00000504120.2_Intron|PCDHA5_ENST00000529619.1_Intron|PCDHA11_ENST00000398640.2_Intron|PCDHA3_ENST00000522353.2_Intron|PCDHA8_ENST00000531613.1_Intron|PCDHA7_ENST00000525929.1_Intron|PCDHA5_ENST00000529859.1_Intron|PCDHA4_ENST00000512229.2_Intron NM_018903.2|NM_031864.2 NP_061726.1|NP_114070.1 NS(4)|breast(2)|cervix(1)|endometrium(19)|kidney(8)|large_intestine(8)|liver(2)|lung(25)|prostate(1)|skin(3)|upper_aerodigestive_tract(4)|urinary_tract(1) 78 KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191) AAGTATATTGCCTGAATTAGT 0.363 41 61 --- --- --- --- PCDH1 5097 broad.mit.edu 37 5 141248302 141248302 + Frame_Shift_Del DEL G G - TCGA-FD-A43N-01A-11D-A23U-08 TCGA-FD-A43N-10A-01D-A23U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7ad967f2-cade-41e1-9aaf-b651ebafb8ef 38660148-12e6-4dae-9041-075ca6892d9b g.chr5:141248302delG ENST00000287008.3 - 2 882 c.735delC c.(733-735)tccfs p.S245fs PCDH1_ENST00000456271.1_Frame_Shift_Del_p.S233fs|PCDH1_ENST00000503492.1_Frame_Shift_Del_p.S245fs|PCDH1_ENST00000536585.1_Frame_Shift_Del_p.S223fs|PCDH1_ENST00000394536.3_Frame_Shift_Del_p.S245fs NM_032420.2 NP_115796.2 Q08174 PCDH1_HUMAN protocadherin 1 245 Cadherin 2. cell-cell signaling|homophilic cell adhesion|nervous system development cell-cell junction|integral to plasma membrane calcium ion binding breast(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(4)|lung(20)|ovary(5)|skin(3)|upper_aerodigestive_tract(1) 51 Lung NSC(810;0.027)|all_lung(500;0.0321)|all_hematologic(541;0.0433)|Prostate(461;0.0453)|Breast(839;0.128)|Lung SC(612;0.238) KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191) GBM - Glioblastoma multiforme(465;1.06e-05) TGAGGTCATAGGAGTCCCAGC 0.627 27 69 --- --- --- --- HDAC2 3066 broad.mit.edu 37 6 114292109 114292110 + In_Frame_Ins INS - - CTG TCGA-FD-A43N-01A-11D-A23U-08 TCGA-FD-A43N-10A-01D-A23U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7ad967f2-cade-41e1-9aaf-b651ebafb8ef 38660148-12e6-4dae-9041-075ca6892d9b g.chr6:114292109_114292110insCTG ENST00000398283.2 - 1 249_250 c.245_246insCAG c.(244-246)agg>agCAGg p.81_82insS RP3-399L15.3_ENST00000449620.2_RNA|RP3-399L15.3_ENST00000520554.1_RNA|RP3-399L15.3_ENST00000436876.2_RNA|HDAC2_ENST00000519065.1_5'UTR|HDAC2_ENST00000368632.2_5'UTR|RP3-399L15.3_ENST00000519104.1_RNA NM_001527.3 NP_001518.3 Q92769 HDAC2_HUMAN histone deacetylase 2 0 Histone deacetylase. blood coagulation|dendrite development|embryonic digit morphogenesis|epidermal cell differentiation|eyelid development in camera-type eye|fungiform papilla formation|hair follicle placode formation|maintenance of chromatin silencing|negative regulation of apoptosis|negative regulation of cell cycle|negative regulation of neuron projection development|negative regulation of sequence-specific DNA binding transcription factor activity|negative regulation of transcription from RNA polymerase II promoter|nerve growth factor receptor signaling pathway|odontogenesis of dentine-containing tooth|positive regulation of cell proliferation|positive regulation of proteolysis|positive regulation of receptor biosynthetic process|positive regulation of transcription from RNA polymerase II promoter cytoplasm|ESC/E(Z) complex|NuRD complex|Sin3 complex chromatin binding|enzyme binding|histone deacetylase activity (H3-K16 specific)|NAD-dependent histone deacetylase activity (H3-K14 specific)|NAD-dependent histone deacetylase activity (H3-K9 specific)|NAD-dependent histone deacetylase activity (H4-K16 specific)|sequence-specific DNA binding|transcription factor binding biliary_tract(1)|central_nervous_system(5)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(11)|ovary(1)|prostate(1)|skin(2) 27 all_cancers(87;0.000629)|all_epithelial(87;0.00274)|Colorectal(196;0.0317)|all_lung(197;0.24) all cancers(137;0.00318)|OV - Ovarian serous cystadenocarcinoma(136;0.00569)|Epithelial(106;0.0112)|GBM - Glioblastoma multiforme(226;0.0832) Vorinostat(DB02546) GGCTCCTCCTCctgctgctgct 0.688 3 4 --- --- --- --- PRKDC 5591 broad.mit.edu 37 8 48746799 48746799 + Frame_Shift_Del DEL T T - TCGA-FD-A43N-01A-11D-A23U-08 TCGA-FD-A43N-10A-01D-A23U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7ad967f2-cade-41e1-9aaf-b651ebafb8ef 38660148-12e6-4dae-9041-075ca6892d9b g.chr8:48746799delT ENST00000314191.2 - 60 8163 c.8107delA c.(8107-8109)aggfs p.R2703fs PRKDC_ENST00000523565.1_5'UTR|PRKDC_ENST00000338368.3_Frame_Shift_Del_p.R2703fs NM_006904.6 NP_008835.5 P78527 PRKDC_HUMAN protein kinase, DNA-activated, catalytic polypeptide 2704 KIP-binding. cellular response to insulin stimulus|double-strand break repair via nonhomologous end joining|peptidyl-serine phosphorylation|positive regulation of transcription from RNA polymerase II promoter DNA-dependent protein kinase-DNA ligase 4 complex|transcription factor complex ATP binding|DNA binding|DNA-dependent protein kinase activity|transcription factor binding NS(1)|autonomic_ganglia(1)|breast(2)|central_nervous_system(9)|cervix(3)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(30)|lung(56)|ovary(6)|pancreas(1)|prostate(8)|skin(7) 147 all_cancers(86;0.0336)|all_epithelial(80;0.00111)|Lung NSC(129;0.00363)|all_lung(136;0.00391) AGGCCCAGCCTTTTTTTCCCA 0.498 Non-homologous end-joining 7 968 --- --- --- --- RGS3 5998 broad.mit.edu 37 9 116356323 116356323 + Frame_Shift_Del DEL T T - TCGA-FD-A43N-01A-11D-A23U-08 TCGA-FD-A43N-10A-01D-A23U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7ad967f2-cade-41e1-9aaf-b651ebafb8ef 38660148-12e6-4dae-9041-075ca6892d9b g.chr9:116356323delT ENST00000462403.1 + 1 558 c.124delT c.(124-126)tttfs p.F44fs RGS3_ENST00000343817.5_Intron|RGS3_ENST00000350696.5_Intron|RGS3_ENST00000342620.5_Intron|RGS3_ENST00000374134.3_Intron|RGS3_ENST00000462143.1_Intron|RGS3_ENST00000394646.3_Intron|RGS3_ENST00000374140.2_Intron NM_144489.2 NP_652760.2 P49796 RGS3_HUMAN regulator of G-protein signaling 3 207 inactivation of MAPK activity|regulation of G-protein coupled receptor protein signaling pathway cytosol|nucleus|plasma membrane GTPase activator activity|signal transducer activity cervix(1)|endometrium(3)|kidney(5)|large_intestine(11)|lung(22)|ovary(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(2) 48 CCAGAAGGAATTTTTTTTTCC 0.622 8 405 --- --- --- --- CD63 967 broad.mit.edu 37 12 56120682 56120683 + Frame_Shift_Ins INS - - AG TCGA-FD-A43N-01A-11D-A23U-08 TCGA-FD-A43N-10A-01D-A23U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7ad967f2-cade-41e1-9aaf-b651ebafb8ef 38660148-12e6-4dae-9041-075ca6892d9b g.chr12:56120682_56120683insAG ENST00000549117.1 - 4 757_758 c.321_322insCT c.(319-324)tttagafs p.R108fs CD63_ENST00000548898.1_Frame_Shift_Ins_p.R15fs|CD63_ENST00000548160.1_Frame_Shift_Ins_p.R15fs|CD63_ENST00000552692.1_Frame_Shift_Ins_p.R108fs|CD63_ENST00000550776.1_Frame_Shift_Ins_p.R26fs|CD63_ENST00000546939.1_Frame_Shift_Ins_p.R26fs|CD63_ENST00000552067.1_Frame_Shift_Ins_p.R15fs|CD63_ENST00000552754.1_Frame_Shift_Ins_p.R85fs|CD63_ENST00000420846.3_Frame_Shift_Ins_p.R108fs|CD63_ENST00000257857.4_Frame_Shift_Ins_p.R108fs NM_001257389.1 NP_001244318.1 P08962 CD63_HUMAN CD63 molecule 108 platelet activation|platelet degranulation integral to plasma membrane|late endosome membrane|lysosomal membrane|platelet dense granule membrane kidney(1)|large_intestine(3)|lung(2)|ovary(1) 7 ACCTTATCTCTAAACACATAGC 0.520 38 290 --- --- --- --- TMEM194A 23306 broad.mit.edu 37 12 57466640 57466649 + Frame_Shift_Del DEL ACGCTTTTCA ACGCTTTTCA - TCGA-FD-A43N-01A-11D-A23U-08 TCGA-FD-A43N-10A-01D-A23U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7ad967f2-cade-41e1-9aaf-b651ebafb8ef 38660148-12e6-4dae-9041-075ca6892d9b g.chr12:57466640_57466649delACGCTTTTCA ENST00000300128.4 - 2 197_206 c.174_183delTGAAAAGCGT c.(172-183)tgtgaaaagcgtfs p.CEKR58fs TMEM194A_ENST00000553654.1_5'UTR|TMEM194A_ENST00000379391.3_Frame_Shift_Del_p.CEKR58fs NM_001130963.1 NP_001124435.1 O14524 T194A_HUMAN transmembrane protein 194A 58 integral to membrane endometrium(3)|large_intestine(3)|lung(2)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1) 12 GTTGGCTGGCACGCTTTTCACAAACTTGGG 0.386 14 136 --- --- --- --- RP11-597A11.1 0 broad.mit.edu 37 14 20086382 20086383 + RNA INS - - AAAA TCGA-FD-A43N-01A-11D-A23U-08 TCGA-FD-A43N-10A-01D-A23U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7ad967f2-cade-41e1-9aaf-b651ebafb8ef 38660148-12e6-4dae-9041-075ca6892d9b g.chr14:20086382_20086383insAAAA ENST00000548261.1 + 0 135 TCTTACAAGGTAAAAAAAATGA 0.312 9 11 --- --- --- --- FOXA1 3169 broad.mit.edu 37 14 38060573 38060573 + Frame_Shift_Del DEL G G - TCGA-FD-A43N-01A-11D-A23U-08 TCGA-FD-A43N-10A-01D-A23U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7ad967f2-cade-41e1-9aaf-b651ebafb8ef 38660148-12e6-4dae-9041-075ca6892d9b g.chr14:38060573delG ENST00000250448.2 - 2 1477 c.1416delC c.(1414-1416)tccfs p.S472fs FOXA1_ENST00000540786.1_Frame_Shift_Del_p.S439fs|FOXA1_ENST00000545425.2_5'UTR NM_004496.3 NP_004487.2 P55317 FOXA1_HUMAN forkhead box A1 472 chromatin remodeling|embryo development|epithelial cell maturation involved in prostate gland development|epithelial tube branching involved in lung morphogenesis|epithelial-mesenchymal signaling involved in prostate gland development|glucose homeostasis|lung epithelial cell differentiation|negative regulation of survival gene product expression|neuron fate specification|pattern specification process|positive regulation of estrogen receptor signaling pathway|positive regulation of mitotic cell cycle|positive regulation of neuron differentiation|positive regulation of sequence-specific DNA binding transcription factor activity|prostate gland epithelium morphogenesis|prostate gland stromal morphogenesis|response to estradiol stimulus|secretory columnal luminar epithelial cell differentiation involved in prostate glandular acinus development transcription factor complex DNA bending activity|double-stranded DNA binding|protein domain specific binding|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription|sequence-specific enhancer binding RNA polymerase II transcription factor activity|specific RNA polymerase II transcription factor activity|specific transcriptional repressor activity|transcription activator activity|transcription factor binding|transcription regulatory region DNA binding breast(1)|endometrium(1)|large_intestine(2)|lung(3)|prostate(12) 19 Breast(36;0.0954)|Esophageal squamous(585;0.164)|Hepatocellular(127;0.213) Lung(238;5.41e-07)|LUAD - Lung adenocarcinoma(48;2.48e-05)|Epithelial(34;0.0454)|LUSC - Lung squamous cell carcinoma(13;0.0917)|all cancers(34;0.0925)|BRCA - Breast invasive adenocarcinoma(188;0.239) GBM - Glioblastoma multiforme(112;0.0222) CCGGGAGCTAGGAAGTGTTTA 0.557 17 93 --- --- --- --- PDXDC2P 283970 broad.mit.edu 37 16 70072983 70072984 + RNA INS - - T TCGA-FD-A43N-01A-11D-A23U-08 TCGA-FD-A43N-10A-01D-A23U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7ad967f2-cade-41e1-9aaf-b651ebafb8ef 38660148-12e6-4dae-9041-075ca6892d9b g.chr16:70072983_70072984insT ENST00000531894.1 - 0 333 NR_003610.1 GTTGCTTCAAGTTTTTTTTTTT 0.376 2 4 --- --- --- --- ZFHX3 463 broad.mit.edu 37 16 72991713 72991715 + In_Frame_Del DEL CCA CCA - rs4788682 by1000genomes TCGA-FD-A43N-01A-11D-A23U-08 TCGA-FD-A43N-10A-01D-A23U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7ad967f2-cade-41e1-9aaf-b651ebafb8ef 38660148-12e6-4dae-9041-075ca6892d9b g.chr16:72991713_72991715delCCA ENST00000268489.5 - 2 3002_3004 c.2330_2332delTGG c.(2329-2334)gtggct>gct p.V777del ZFHX3_ENST00000397992.5_Intron NM_006885.3 NP_008816.3 Q15911 ZFHX3_HUMAN zinc finger homeobox 3 777 Poly-Ala. V -> A (in dbSNP:rs4788682). muscle organ development|negative regulation of myoblast differentiation|negative regulation of transcription from RNA polymerase II promoter|negative regulation of transcription, DNA-dependent|positive regulation of myoblast differentiation transcription factor complex enzyme binding|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|transcription regulatory region DNA binding|zinc ion binding p.V777V(1) NS(3)|breast(7)|cervix(2)|endometrium(18)|haematopoietic_and_lymphoid_tissue(5)|kidney(8)|large_intestine(22)|liver(1)|lung(46)|ovary(5)|pancreas(1)|prostate(15)|skin(6)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(11) 153 Ovarian(137;0.13) gccgccgcagccaccgccgccgc 0.635 8 128 --- --- --- --- AP001604.3 0 broad.mit.edu 37 21 28793489 28793490 + RNA INS - - T rs144948060 TCGA-FD-A43N-01A-11D-A23U-08 TCGA-FD-A43N-10A-01D-A23U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7ad967f2-cade-41e1-9aaf-b651ebafb8ef 38660148-12e6-4dae-9041-075ca6892d9b g.chr21:28793489_28793490insT ENST00000420186.2 - 0 202 atttttttttcttttttttttt 0.347 5 6 --- --- --- --- IGLV3-12 28802 broad.mit.edu 37 22 23114749 23114749 + RNA DEL T T - rs74864698 TCGA-FD-A43N-01A-11D-A23U-08 TCGA-FD-A43N-10A-01D-A23U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7ad967f2-cade-41e1-9aaf-b651ebafb8ef 38660148-12e6-4dae-9041-075ca6892d9b g.chr22:23114749delT ENST00000390313.2 + 0 55 CATCCTCTCCTTTTTTTTTTT 0.498 8 21 --- --- --- --- TMPRSS6 164656 broad.mit.edu 37 22 37480254 37480254 + Frame_Shift_Del DEL A A - TCGA-FD-A43N-01A-11D-A23U-08 TCGA-FD-A43N-10A-01D-A23U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7ad967f2-cade-41e1-9aaf-b651ebafb8ef 38660148-12e6-4dae-9041-075ca6892d9b g.chr22:37480254delA ENST00000442782.2 - 10 1420 c.1304delT c.(1303-1305)ttgfs p.L435fs TMPRSS6_ENST00000406856.1_Intron|TMPRSS6_ENST00000346753.3_Intron|TMPRSS6_ENST00000381792.2_Intron|TMPRSS6_ENST00000406725.1_Intron Q8IU80 TMPS6_HUMAN transmembrane protease, serine 6 434 CUB 2. angiogenesis|extracellular matrix organization|fibrinolysis|intracellular signal transduction|proteolysis integral to membrane|intracellular|plasma membrane serine-type endopeptidase activity breast(5)|central_nervous_system(4)|endometrium(4)|kidney(4)|large_intestine(3)|lung(13)|ovary(1)|prostate(1)|skin(2)|stomach(3) 40 TTGGGCTTCCAATGAGGGGGT 0.612 5 3 --- --- --- --- RBMX 27316 broad.mit.edu 37 X 135961585 135961586 + Translation_Start_Site INS - - T TCGA-FD-A43N-01A-11D-A23U-08 TCGA-FD-A43N-10A-01D-A23U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7ad967f2-cade-41e1-9aaf-b651ebafb8ef 38660148-12e6-4dae-9041-075ca6892d9b g.chrX:135961585_135961586insT ENST00000570135.1 - 0 155_156 RBMX_ENST00000431446.3_Start_Codon_Ins|RBMX_ENST00000565438.1_Intron|RBMX_ENST00000562646.1_Start_Codon_Ins|RBMX_ENST00000320676.7_Start_Codon_Ins P38159 HNRPG_HUMAN RNA binding motif protein, X-linked catalytic step 2 spliceosome|heterogeneous nuclear ribonucleoprotein complex|nucleoplasm nucleotide binding|protein binding|RNA binding p.?(1) NS(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(5)|large_intestine(2)|lung(12)|ovary(2)|pancreas(1)|prostate(2)|urinary_tract(1) 33 Acute lymphoblastic leukemia(192;0.000127) TGCTTCAACCATGTTTTTTTTT 0.391 8 107 --- --- --- --- BRCC3 79184 broad.mit.edu 37 X 154327649 154327650 + Frame_Shift_Del DEL AG AG - TCGA-FD-A43N-01A-11D-A23U-08 TCGA-FD-A43N-10A-01D-A23U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7ad967f2-cade-41e1-9aaf-b651ebafb8ef 38660148-12e6-4dae-9041-075ca6892d9b g.chrX:154327649_154327650delAG ENST00000369462.1 + 8 633_634 c.608_609delAG c.(607-609)cagfs p.Q203fs BRCC3_ENST00000399042.1_Frame_Shift_Del_p.Q203fs|MTCP1_ENST00000362018.2_Intron|BRCC3_ENST00000330045.7_Intron|BRCC3_ENST00000369459.2_Intron|BRCC3_ENST00000340647.4_Intron NM_024332.3 NP_077308.1 P46736 BRCC3_HUMAN BRCA1/BRCA2-containing complex, subunit 3 203 double-strand break repair|G2/M transition DNA damage checkpoint|histone H2A K63-linked deubiquitination|positive regulation of DNA repair|response to X-ray BRCA1-A complex|BRISC complex|nuclear ubiquitin ligase complex enzyme regulator activity|metal ion binding|metallopeptidase activity|polyubiquitin binding|ubiquitin thiolesterase activity|ubiquitin-specific protease activity p.Q203Q(1) breast(2)|central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(1)|lung(7)|ovary(1)|pancreas(1)|skin(1) 22 all_cancers(53;1.86e-17)|all_epithelial(53;2.71e-11)|all_lung(58;1.84e-07)|Lung NSC(58;5.62e-07)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176)|Renal(33;0.214) attgagggccagaaggaagagg 0.505 19 11 --- --- --- ---