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 SCAF8 22828 broad.mit.edu 37 6 155114092 155114092 + Missense_Mutation SNP G G C TCGA-G9-A9S7-01A-11D-A41K-08 TCGA-G9-A9S7-10A-01D-A41N-08 Untested Somatic Phase_I WXS none Illumina GAIIx e45d5e62-ce70-466d-b4b3-620d70c95651 0f1a5b46-d751-426a-917c-fac53a697f81 g.chr6:155114092G>C ENST00000367178.3 + 5 1033 c.457G>C c.(457-459)Gct>Cct p.A153P SCAF8_ENST00000417268.1_Missense_Mutation_p.A153P|SCAF8_ENST00000367186.4_Missense_Mutation_p.A219P NM_014892.3 NP_055707.3 Q9UPN6 SCAF8_HUMAN SR-related CTD-associated factor 8 153 mRNA processing|RNA splicing nuclear matrix|spliceosomal complex nucleotide binding|RNA binding|RNA polymerase core enzyme binding breast(4)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(14)|lung(15)|ovary(1)|prostate(3)|upper_aerodigestive_tract(1) 46 CACTACCACTGCTATGAGCAA 0.378000 5 15 0 0 1 0 0 RLTPR 146206 broad.mit.edu 37 16 67685883 67685883 + Missense_Mutation SNP C C T TCGA-G9-A9S7-01A-11D-A41K-08 TCGA-G9-A9S7-10A-01D-A41N-08 Untested Somatic Phase_I WXS none Illumina GAIIx e45d5e62-ce70-466d-b4b3-620d70c95651 0f1a5b46-d751-426a-917c-fac53a697f81 g.chr16:67685883C>T ENST00000334583.6 + 26 2976 c.2648C>T c.(2647-2649)gCa>gTa p.A883V RLTPR_ENST00000545661.1_Missense_Mutation_p.A847V NM_001013838.1 NP_001013860.1 Q6F5E8 LR16C_HUMAN RGD motif, leucine rich repeats, tropomodulin domain and proline-rich containing 883 breast(1)|cervix(1)|endometrium(4)|kidney(1)|lung(9)|urinary_tract(2) 18 Acute lymphoblastic leukemia(13;3.23e-05)|all_hematologic(13;0.00251)|Ovarian(137;0.192) OV - Ovarian serous cystadenocarcinoma(108;0.0146)|Epithelial(162;0.0481)|all cancers(182;0.232) CAGGCTTTGGCAGGCCTGAGT 0.587000 5 113 0 0 1 0 0 TNPO3 23534 broad.mit.edu 37 7 128658068 128658068 + Missense_Mutation SNP G G C TCGA-G9-A9S7-01A-11D-A41K-08 TCGA-G9-A9S7-10A-01D-A41N-08 Untested Somatic Phase_I WXS none Illumina GAIIx e45d5e62-ce70-466d-b4b3-620d70c95651 0f1a5b46-d751-426a-917c-fac53a697f81 g.chr7:128658068G>C ENST00000393245.1 - 2 637 c.264C>G c.(262-264)gaC>gaG p.D88E TNPO3_ENST00000471166.1_Missense_Mutation_p.D88E|TNPO3_ENST00000265388.5_Missense_Mutation_p.D88E|TNPO3_ENST00000471234.1_Missense_Mutation_p.D88E|TNPO3_ENST00000482320.1_Missense_Mutation_p.D22E NM_012470.3 NP_036602.1 Q9Y5L0 TNPO3_HUMAN transportin 3 88 splicing factor protein import into nucleus cytoplasm|nucleus protein binding|receptor activity central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(2)|lung(7)|ovary(2)|prostate(2)|skin(3) 22 TTAGCAATGAGTCCCGTAAAG 0.418000 4 57 0 0 1 0 0 DNAJC19 131118 broad.mit.edu 37 3 180703757 180703757 + Missense_Mutation SNP T T G TCGA-G9-A9S7-01A-11D-A41K-08 TCGA-G9-A9S7-10A-01D-A41N-08 Untested Somatic Phase_I WXS none Illumina GAIIx e45d5e62-ce70-466d-b4b3-620d70c95651 0f1a5b46-d751-426a-917c-fac53a697f81 g.chr3:180703757T>G ENST00000382564.2 - 5 407 c.237A>C c.(235-237)agA>agC p.R79S DNAJC19_ENST00000486355.1_3'UTR|DNAJC19_ENST00000479269.1_Missense_Mutation_p.R54S|DNAJC19_ENST00000491873.1_Missense_Mutation_p.R54S NM_145261.3 NP_660304.1 Q96DA6 TIM14_HUMAN DnaJ (Hsp40) homolog, subfamily C, member 19 79 J. genitalia development|protein folding|protein targeting to mitochondrion|transmembrane transport|visual perception integral to membrane|mitochondrial inner membrane heat shock protein binding large_intestine(2)|lung(1) 3 all_cancers(143;3.12e-14)|Ovarian(172;0.0212) Epithelial(37;3.05e-36)|OV - Ovarian serous cystadenocarcinoma(80;1.55e-22) GATGAGCATCTCTTATTTTCC 0.338000 12 19 0 0 1 0 0 PAX5 5079 broad.mit.edu 37 9 37006485 37006485 + Missense_Mutation SNP A A G TCGA-G9-A9S7-01A-11D-A41K-08 TCGA-G9-A9S7-10A-01D-A41N-08 Untested Somatic Phase_I WXS none Illumina GAIIx e45d5e62-ce70-466d-b4b3-620d70c95651 0f1a5b46-d751-426a-917c-fac53a697f81 g.chr9:37006485A>G ENST00000358127.4 - 4 534 c.460T>C c.(460-462)Tcc>Ccc p.S154P PAX5_ENST00000377853.2_Missense_Mutation_p.S154P|PAX5_ENST00000414447.1_Missense_Mutation_p.S154P|PAX5_ENST00000522003.1_Missense_Mutation_p.S46P|PAX5_ENST00000520154.1_Missense_Mutation_p.S154P|RP11-297B17.3_ENST00000509911.2_RNA|PAX5_ENST00000520281.1_Missense_Mutation_p.S154P|PAX5_ENST00000377847.2_Missense_Mutation_p.S154P|PAX5_ENST00000446742.1_Missense_Mutation_p.S88P|PAX5_ENST00000523145.1_Missense_Mutation_p.S46P|PAX5_ENST00000523241.1_Missense_Mutation_p.S154P|PAX5_ENST00000377852.2_Missense_Mutation_p.S154P NM_016734.1 NP_057953.1 Q02548 PAX5_HUMAN paired box 5 154 cell differentiation|humoral immune response|nervous system development|organ morphogenesis|spermatogenesis|transcription from RNA polymerase II promoter nucleus DNA binding p.?(40) PAX5/JAK2(18) NS(1)|central_nervous_system(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(151)|kidney(1)|lung(10)|prostate(1)|skin(1) 171 all_cancers(2;3.46e-10)|Acute lymphoblastic leukemia(2;7.09e-56)|all_hematologic(2;6.65e-44) GBM - Glioblastoma multiforme(29;0.0108) CTGTGACTGGAAGCTGGGACT 0.378000 """T, Mis, D, F, S""" """IGH@, ETV6, PML, FOXP1, ZNF521, ELN""" """NHL, ALL, B-ALL""" 43 50 0 0 1 0 0 NKD2 85409 broad.mit.edu 37 5 1038080 1038080 + Silent SNP C C T TCGA-G9-A9S7-01A-11D-A41K-08 TCGA-G9-A9S7-10A-01D-A41N-08 Untested Somatic Phase_I WXS none Illumina GAIIx e45d5e62-ce70-466d-b4b3-620d70c95651 0f1a5b46-d751-426a-917c-fac53a697f81 g.chr5:1038080C>T ENST00000296849.5 + 10 1177 c.948C>T c.(946-948)gcC>gcT p.A316A NKD2_ENST00000274150.4_3'UTR|NKD2_ENST00000382730.2_Intron NM_033120.2 NP_149111.1 Q969F2 NKD2_HUMAN naked cuticle homolog 2 (Drosophila) 316 Interaction with TGFA. exocytosis|Wnt receptor signaling pathway cytoplasmic membrane-bounded vesicle|plasma membrane calcium ion binding|ubiquitin protein ligase binding breast(1)|central_nervous_system(3)|large_intestine(1)|lung(8)|pancreas(1) 14 Lung NSC(6;2.47e-13)|all_lung(6;1.67e-12)|all_epithelial(6;3.28e-09) Epithelial(17;0.00093)|OV - Ovarian serous cystadenocarcinoma(19;0.00239)|all cancers(22;0.00417)|Lung(60;0.165) CTGCCCGGGCCCTGGACACGC 0.697000 3 6 0 0 1 0 0 PCDHA8 0 broad.mit.edu 37 5 140223018 140223018 + Missense_Mutation SNP C C G TCGA-G9-A9S7-01A-11D-A41K-08 TCGA-G9-A9S7-10A-01D-A41N-08 Untested Somatic Phase_I WXS none Illumina GAIIx e45d5e62-ce70-466d-b4b3-620d70c95651 0f1a5b46-d751-426a-917c-fac53a697f81 g.chr5:140223018C>G ENST00000531613.1 + 1 2112 c.2112C>G c.(2110-2112)atC>atG p.I704M PCDHA4_ENST00000530339.1_Intron|PCDHA6_ENST00000529310.1_Intron|PCDHA6_ENST00000527624.1_Intron|PCDHA2_ENST00000526136.1_Intron|PCDHA7_ENST00000525929.1_Intron|PCDHA3_ENST00000522353.2_Intron|PCDHA1_ENST00000504120.2_Intron|PCDHA1_ENST00000394633.3_Intron|PCDHA4_ENST00000512229.2_Intron|PCDHA5_ENST00000529859.1_Intron|PCDHA5_ENST00000529619.1_Intron|PCDHA8_ENST00000378123.3_Missense_Mutation_p.I704M NM_018911.2 NP_061734.1 NS(2)|breast(3)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(10)|lung(31)|ovary(2)|prostate(2)|skin(4)|stomach(2)|upper_aerodigestive_tract(6) 78 KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191) TCATCGCCATCTGCGCGGTAT 0.657000 11 49 0 0 1 0 0 RP11-156P1.3 0 broad.mit.edu 37 17 45128812 45128812 + RNA SNP C C T TCGA-G9-A9S7-01A-11D-A41K-08 TCGA-G9-A9S7-10A-01D-A41N-08 Untested Somatic Phase_I WXS none Illumina GAIIx e45d5e62-ce70-466d-b4b3-620d70c95651 0f1a5b46-d751-426a-917c-fac53a697f81 g.chr17:45128812C>T ENST00000575173.1 - 0 418 AGTCCTGTTTCTGTGTGGATT 0.373000 3 31 0 0 1 0 0 TFAP2B 7021 broad.mit.edu 37 6 50805733 50805733 + Silent SNP A A G TCGA-G9-A9S7-01A-11D-A41K-08 TCGA-G9-A9S7-10A-01D-A41N-08 Untested Somatic Phase_I WXS none Illumina GAIIx e45d5e62-ce70-466d-b4b3-620d70c95651 0f1a5b46-d751-426a-917c-fac53a697f81 g.chr6:50805733A>G ENST00000263046.4 + 6 1060 c.894A>G c.(892-894)gaA>gaG p.E298E TFAP2B_ENST00000393655.3_Silent_p.E289E Q92481 AP2B_HUMAN transcription factor AP-2 beta (activating enhancer binding protein 2 beta) 289 nervous system development|positive regulation of transcription from RNA polymerase II promoter protein dimerization activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription coactivator activity NS(1)|breast(2)|endometrium(6)|kidney(1)|large_intestine(11)|lung(16)|prostate(2)|upper_aerodigestive_tract(1) 40 Lung NSC(77;0.156) AAAGGCTAGAAAAAATCGGTT 0.453000 28 69 0 0 1 0 0 PAN3 255967 broad.mit.edu 37 13 28844930 28844930 + Missense_Mutation SNP C C G TCGA-G9-A9S7-01A-11D-A41K-08 TCGA-G9-A9S7-10A-01D-A41N-08 Untested Somatic Phase_I WXS none Illumina GAIIx e45d5e62-ce70-466d-b4b3-620d70c95651 0f1a5b46-d751-426a-917c-fac53a697f81 g.chr13:28844930C>G ENST00000399613.1 + 12 1348 c.1285C>G c.(1285-1287)Cgt>Ggt p.R429G PAN3_ENST00000380958.3_Missense_Mutation_p.R629G|PAN3_ENST00000282391.5_Missense_Mutation_p.R317G Q58A45 PAN3_HUMAN PAN3 poly(A) specific ribonuclease subunit homolog (S. cerevisiae) 629 Interaction with polyadenylate-binding protein. nuclear-transcribed mRNA catabolic process, nonsense-mediated decay|nuclear-transcribed mRNA poly(A) tail shortening centrosome|cytosol ATP binding|protein kinase activity endometrium(1)|kidney(3)|large_intestine(7)|lung(9)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1) 24 Acute lymphoblastic leukemia(6;0.04) Lung SC(185;0.0262) Colorectal(13;0.000334) all cancers(112;0.0102)|Epithelial(112;0.0803)|GBM - Glioblastoma multiforme(144;0.121)|OV - Ovarian serous cystadenocarcinoma(117;0.13)|Lung(94;0.174) TTCTGCATTGCGTACCATTCA 0.428000 28 93 0 0 1 0 0 PPP2R2B 5521 broad.mit.edu 37 5 146080671 146080671 + Silent SNP C C T TCGA-G9-A9S7-01A-11D-A41K-08 TCGA-G9-A9S7-10A-01D-A41N-08 Untested Somatic Phase_I WXS none Illumina GAIIx e45d5e62-ce70-466d-b4b3-620d70c95651 0f1a5b46-d751-426a-917c-fac53a697f81 g.chr5:146080671C>T ENST00000394413.3 - 2 675 c.105G>A c.(103-105)acG>acA p.T35T PPP2R2B_ENST00000530902.1_5'UTR|PPP2R2B_ENST00000394410.2_Silent_p.T24T|PPP2R2B_ENST00000453001.1_Silent_p.T35T|PPP2R2B_ENST00000394411.4_Silent_p.T35T|PPP2R2B_ENST00000504198.1_Silent_p.T41T|PPP2R2B_ENST00000394414.1_Silent_p.T101T|PPP2R2B_ENST00000336640.6_Silent_p.T38T|PPP2R2B_ENST00000394409.3_Silent_p.T93T|PPP2R2B_ENST00000508545.2_Silent_p.T24T|PPP2R2B_ENST00000356826.3_Silent_p.T35T Q00005 2ABB_HUMAN protein phosphatase 2, regulatory subunit B, beta 35 apoptosis|signal transduction cytoskeleton|mitochondrial outer membrane|protein phosphatase type 2A complex protein binding|protein phosphatase type 2A regulator activity endometrium(3)|kidney(4)|large_intestine(6)|liver(2)|lung(9)|ovary(1)|prostate(4)|skin(3) 32 KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101) GTAATTCTCCCGTGTGGTTGA 0.423000 8 302 0 0 1 0 0 UBR4 23352 broad.mit.edu 37 1 19474542 19474542 + Missense_Mutation SNP G G C TCGA-G9-A9S7-01A-11D-A41K-08 TCGA-G9-A9S7-10A-01D-A41N-08 Untested Somatic Phase_I WXS none Illumina GAIIx e45d5e62-ce70-466d-b4b3-620d70c95651 0f1a5b46-d751-426a-917c-fac53a697f81 g.chr1:19474542G>C ENST00000375267.2 - 51 7577 c.7574C>G c.(7573-7575)tCc>tGc p.S2525C UBR4_ENST00000375217.2_Missense_Mutation_p.S2525C|UBR4_ENST00000375226.2_Missense_Mutation_p.S2536C|UBR4_ENST00000375254.3_Missense_Mutation_p.S2525C Q5T4S7 UBR4_HUMAN ubiquitin protein ligase E3 component n-recognin 4 2525 interspecies interaction between organisms cytoplasm|cytoskeleton|integral to membrane|nucleus calmodulin binding|ubiquitin-protein ligase activity|zinc ion binding breast(7)|central_nervous_system(1)|cervix(2)|endometrium(23)|kidney(25)|large_intestine(25)|liver(2)|lung(47)|ovary(10)|pancreas(2)|prostate(7)|skin(5)|stomach(5)|upper_aerodigestive_tract(4)|urinary_tract(6) 171 Colorectal(325;3.46e-05)|Renal(390;0.000147)|all_lung(284;0.000328)|Lung NSC(340;0.000406)|Breast(348;0.000814)|Ovarian(437;0.00774)|Myeloproliferative disorder(586;0.0256) UCEC - Uterine corpus endometrioid carcinoma (279;0.00674)|BRCA - Breast invasive adenocarcinoma(304;5.43e-05)|Kidney(64;0.000337)|KIRC - Kidney renal clear cell carcinoma(64;0.00426)|STAD - Stomach adenocarcinoma(196;0.00715)|READ - Rectum adenocarcinoma(331;0.0816) AAGGCTCTTGGACTGCTGCTG 0.567000 9 34 0 0 1 0 0 CHEK2 11200 broad.mit.edu 37 22 29091840 29091840 + Missense_Mutation SNP T T C rs142470496 byFrequency TCGA-G9-A9S7-01A-11D-A41K-08 TCGA-G9-A9S7-10A-01D-A41N-08 Untested Somatic Phase_I WXS none Illumina GAIIx e45d5e62-ce70-466d-b4b3-620d70c95651 0f1a5b46-d751-426a-917c-fac53a697f81 g.chr22:29091840T>C ENST00000544772.1 - 12 1890 c.454A>G c.(454-456)Aag>Gag p.K152E CHEK2_ENST00000403642.1_Missense_Mutation_p.K282E|CHEK2_ENST00000382580.2_Missense_Mutation_p.K416E|CHEK2_ENST00000404276.1_Missense_Mutation_p.K373E|CHEK2_ENST00000348295.3_Missense_Mutation_p.K344E|CHEK2_ENST00000382566.1_3'UTR|CHEK2_ENST00000328354.6_Missense_Mutation_p.K373E|CHEK2_ENST00000405598.1_Missense_Mutation_p.K373E|CHEK2_ENST00000402731.1_Missense_Mutation_p.K344E|CHEK2_ENST00000382578.1_Missense_Mutation_p.K282E|CHEK2_ENST00000382565.1_Intron NM_001257387.1 NP_001244316.1 O96017 CHK2_HUMAN checkpoint kinase 2 373 FHA. cell cycle|DNA damage checkpoint|DNA damage response, signal transduction resulting in induction of apoptosis|replicative senescence PML body ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity p.K373E(9) central_nervous_system(17)|endometrium(2)|kidney(11)|large_intestine(2)|lung(11)|ovary(1)|prostate(4)|stomach(2) 50 CCCAAAATCTTGGAGTGCCCA 0.418000 F breast Direct reversal of damage;Other conserved DNA damage response genes 3 47 0 0 1 0 0 LL22NC03-80A10.6 0 broad.mit.edu 37 22 22663087 22663087 + RNA SNP A A G rs1054158 TCGA-G9-A9S7-01A-11D-A41K-08 TCGA-G9-A9S7-10A-01D-A41N-08 Untested Somatic Phase_I WXS none Illumina GAIIx e45d5e62-ce70-466d-b4b3-620d70c95651 0f1a5b46-d751-426a-917c-fac53a697f81 g.chr22:22663087A>G ENST00000426066.1 + 0 526 NR_027293.1 GCTGCCACATAAGTTGTCCTT 0.303000 4 26 0 0 1 0 0 TBC1D3 729873 broad.mit.edu 37 17 36352489 36352489 + Translation_Start_Site SNP A A C rs4796259 by1000genomes TCGA-G9-A9S7-01A-11D-A41K-08 TCGA-G9-A9S7-10A-01D-A41N-08 Untested Somatic Phase_I WXS none Illumina GAIIx e45d5e62-ce70-466d-b4b3-620d70c95651 0f1a5b46-d751-426a-917c-fac53a697f81 g.chr17:36352489A>C ENST00000537432.1 - 0 359 RP11-1407O15.2_ENST00000312412.4_Missense_Mutation_p.F433C|RP11-1407O15.2_ENST00000544906.1_Missense_Mutation_p.F278C Q8IZP1 TBC3A_HUMAN TBC1 domain family, member 3 intracellular Rab GTPase activator activity breast(1)|large_intestine(1)|lung(1)|prostate(1)|upper_aerodigestive_tract(1) 5 Breast(7;2.97e-12) Breast(25;0.102)|Ovarian(249;0.17) UCEC - Uterine corpus endometrioid carcinoma (308;0.0182) TATAGCATCAAATATCTCATC 0.388000 3 29 0 0 1 0 0 FGF18 8817 broad.mit.edu 37 5 170876179 170876179 + Silent SNP C C T TCGA-G9-A9S7-01A-11D-A41K-08 TCGA-G9-A9S7-10A-01D-A41N-08 Untested Somatic Phase_I WXS none Illumina GAIIx e45d5e62-ce70-466d-b4b3-620d70c95651 0f1a5b46-d751-426a-917c-fac53a697f81 g.chr5:170876179C>T ENST00000274625.5 + 4 823 c.279C>T c.(277-279)ttC>ttT p.F93F NM_003862.2 NP_003853.1 O76093 FGF18_HUMAN fibroblast growth factor 18 93 cell-cell signaling|fibroblast growth factor receptor signaling pathway|insulin receptor signaling pathway|positive regulation of cell proliferation extracellular space|nucleolus growth factor activity|type 1 fibroblast growth factor receptor binding|type 2 fibroblast growth factor receptor binding endometrium(2)|large_intestine(1)|lung(4)|prostate(1)|skin(1) 9 Renal(175;0.000159)|Lung NSC(126;0.011)|all_lung(126;0.0175) Medulloblastoma(196;0.0208)|all_neural(177;0.0416) Kidney(164;7.24e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000516) CAGACACCTTCGGTAGTCAAG 0.517000 5 41 0 0 1 0 0 PAX8 7849 broad.mit.edu 37 2 114002103 114002103 + Missense_Mutation SNP C C T TCGA-G9-A9S7-01A-11D-A41K-08 TCGA-G9-A9S7-10A-01D-A41N-08 Untested Somatic Phase_I WXS none Illumina GAIIx e45d5e62-ce70-466d-b4b3-620d70c95651 0f1a5b46-d751-426a-917c-fac53a697f81 g.chr2:114002103C>T ENST00000429538.3 - 4 484 c.290G>A c.(289-291)cGc>cAc p.R97H AC016683.6_ENST00000451179.1_RNA|AC016683.6_ENST00000445745.1_RNA|AC016683.6_ENST00000333145.5_RNA|AC016683.6_ENST00000422956.1_RNA|AC016683.6_ENST00000553869.2_RNA|PAX8_ENST00000263334.5_Missense_Mutation_p.R97H|PAX8_ENST00000348715.5_Missense_Mutation_p.R97H|AC016683.6_ENST00000556070.1_RNA|PAX8_ENST00000263335.7_Missense_Mutation_p.R97H|AC016683.6_ENST00000436293.2_RNA|PAX8_ENST00000397647.3_Missense_Mutation_p.R97H NM_003466.3 NP_003457.1 Q06710 PAX8_HUMAN paired box 8 97 Paired. branching involved in ureteric bud morphogenesis|cellular response to gonadotropin stimulus|central nervous system development|mesenchymal to epithelial transition involved in metanephros morphogenesis|mesonephros development|metanephric collecting duct development|metanephric comma-shaped body morphogenesis|metanephric distal convoluted tubule development|metanephric nephron tubule formation|metanephric S-shaped body morphogenesis|negative regulation of mesenchymal stem cell apoptosis involved in metanephric nephron morphogenesis|otic vesicle development|positive regulation of branching involved in ureteric bud morphogenesis|positive regulation of mesenchymal to epithelial transition involved in metanephros morphogenesis|positive regulation of metanephric DCT cell differentiation|positive regulation of thyroid hormone generation|positive regulation of transcription from RNA polymerase II promoter|positive regulation of transcription, DNA-dependent|pronephric field specification|regulation of metanephric nephron tubule epithelial cell differentiation|regulation of thyroid-stimulating hormone secretion|thyroid gland development|transcription, DNA-dependent nucleoplasm protein binding|RNA polymerase II core promoter sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|thyroid-stimulating hormone receptor activity PAX8/PPARG(117) breast(1)|endometrium(4)|kidney(2)|large_intestine(1)|liver(1)|lung(9)|ovary(1)|skin(1) 20 AGGGTTCTGGCGTTTGTAGTC 0.587000 T PPARG follicular thyroid Thyroid dysgenesis 7 240 0 0 1 0 0 CLDN16 10686 broad.mit.edu 37 3 190122701 190122701 + Missense_Mutation SNP C C T TCGA-G9-A9S7-01A-11D-A41K-08 TCGA-G9-A9S7-10A-01D-A41N-08 Untested Somatic Phase_I WXS none Illumina GAIIx e45d5e62-ce70-466d-b4b3-620d70c95651 0f1a5b46-d751-426a-917c-fac53a697f81 g.chr3:190122701C>T ENST00000264734.2 + 3 826 c.578C>T c.(577-579)aCg>aTg p.T193M CLDN16_ENST00000456423.1_Intron|CLDN16_ENST00000468220.1_3'UTR NM_006580.3 NP_006571.1 Q9Y5I7 CLD16_HUMAN claudin 16 193 calcium-independent cell-cell adhesion|cellular metal ion homeostasis|excretion integral to membrane|tight junction identical protein binding|magnesium ion transmembrane transporter activity|structural molecule activity breast(2)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(5)|ovary(1)|pancreas(1)|skin(1) 19 all_cancers(143;3.61e-10)|Ovarian(172;0.0991) Lung(62;2.23e-05)|LUSC - Lung squamous cell carcinoma(58;3.15e-05) GBM - Glioblastoma multiforme(93;0.018) GCTGGAGCCACGTTACTAATA 0.527000 15 47 0 0 1 0 0 WARS2 10352 broad.mit.edu 37 1 119575758 119575758 + Missense_Mutation SNP C C T TCGA-G9-A9S7-01A-11D-A41K-08 TCGA-G9-A9S7-10A-01D-A41N-08 Untested Somatic Phase_I WXS none Illumina GAIIx e45d5e62-ce70-466d-b4b3-620d70c95651 0f1a5b46-d751-426a-917c-fac53a697f81 g.chr1:119575758C>T ENST00000235521.4 - 6 885 c.859G>A c.(859-861)Gtg>Atg p.V287M WARS2_ENST00000537870.1_Missense_Mutation_p.V193M|WARS2_ENST00000369426.5_3'UTR NM_015836.3|NM_201263.2 NP_056651.1|NP_957715.1 Q9UGM6 SYWM_HUMAN tryptophanyl tRNA synthetase 2, mitochondrial 287 tryptophanyl-tRNA aminoacylation mitochondrial matrix ATP binding|tryptophan-tRNA ligase activity breast(1)|endometrium(1)|kidney(2)|large_intestine(2)|lung(7)|prostate(2) 15 all_neural(166;0.187) all_lung(203;2.48e-06)|Lung NSC(69;1.74e-05)|all_epithelial(167;0.000564) Lung(183;0.0629) L-Tryptophan(DB00150) ACTTCCTCCACGGAGAGCCCC 0.627000 6 84 0 0 1 0 0 CHEK2P2 0 broad.mit.edu 37 15 20496765 20496765 + RNA SNP G G T TCGA-G9-A9S7-01A-11D-A41K-08 TCGA-G9-A9S7-10A-01D-A41N-08 Untested Somatic Phase_I WXS none Illumina GAIIx e45d5e62-ce70-466d-b4b3-620d70c95651 0f1a5b46-d751-426a-917c-fac53a697f81 g.chr15:20496765G>T ENST00000555186.1 + 0 818 NR_038836.1 GTTTTTTATAGTGTGTATTTT 0.358000 5 21 1.23904e-05 1.28034e-05 1 1 0 GABRA6 2559 broad.mit.edu 37 5 161119058 161119058 + Missense_Mutation SNP T T G TCGA-G9-A9S7-01A-11D-A41K-08 TCGA-G9-A9S7-10A-01D-A41N-08 Untested Somatic Phase_I WXS none Illumina GAIIx e45d5e62-ce70-466d-b4b3-620d70c95651 0f1a5b46-d751-426a-917c-fac53a697f81 g.chr5:161119058T>G ENST00000523217.1 + 8 1150 c.908T>G c.(907-909)tTc>tGc p.F303C GABRA6_ENST00000274545.5_Missense_Mutation_p.F313C NM_000811.2 NP_000802.2 Q16445 GBRA6_HUMAN gamma-aminobutyric acid (GABA) A receptor, alpha 6 313 gamma-aminobutyric acid signaling pathway cell junction|chloride channel complex|integral to plasma membrane|postsynaptic membrane benzodiazepine receptor activity|chloride channel activity breast(1)|central_nervous_system(2)|endometrium(6)|large_intestine(9)|liver(2)|lung(22)|ovary(7)|skin(6)|urinary_tract(2) 57 Renal(175;0.00259) Medulloblastoma(196;0.0208)|all_neural(177;0.0672) Kidney(164;7.83e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525) Alprazolam(DB00404)|Ethchlorvynol(DB00189)|Flunitrazepam(DB01544)|Flurazepam(DB00690)|Lorazepam(DB00186)|Meprobamate(DB00371)|Midazolam(DB00683) TGCTTTGCATTCGTCTTCTCT 0.478000 TCGA Ovarian(5;0.080) 4 90 0 0 1 0 0 IFT88 8100 broad.mit.edu 37 13 21245111 21245111 + Splice_Site SNP G G A TCGA-G9-A9S7-01A-11D-A41K-08 TCGA-G9-A9S7-10A-01D-A41N-08 Untested Somatic Phase_I WXS none Illumina GAIIx e45d5e62-ce70-466d-b4b3-620d70c95651 0f1a5b46-d751-426a-917c-fac53a697f81 g.chr13:21245111G>A ENST00000382778.4 + 26 3444 c.e26-1 IFT88_ENST00000351808.5_Splice_Site|IFT88_ENST00000319980.6_Splice_Site|IFT88_ENST00000537103.1_Splice_Site Q13099 IFT88_HUMAN intraflagellar transport 88 homolog (Chlamydomonas) cilium morphogenesis centriole|intraflagellar transport particle B|microtubule basal body|microtubule-based flagellum protein binding breast(1)|endometrium(1)|kidney(1)|large_intestine(5)|lung(13)|ovary(1)|prostate(2)|skin(2)|urinary_tract(1) 27 all_cancers(29;5.79e-25)|all_epithelial(30;2.57e-20)|all_lung(29;3.13e-16)|Lung SC(185;0.0262)|Ovarian(182;0.0825)|Hepatocellular(188;0.244) all cancers(112;0.000667)|Epithelial(112;0.00119)|OV - Ovarian serous cystadenocarcinoma(117;0.0141)|Lung(94;0.0183)|LUSC - Lung squamous cell carcinoma(192;0.0528) CTTTGCTCTAGCGCATAAAGT 0.393000 4 17 0 0 1 0 0 PNRC1 10957 broad.mit.edu 37 6 89790855 89790855 + Missense_Mutation SNP G G A TCGA-G9-A9S7-01A-11D-A41K-08 TCGA-G9-A9S7-10A-01D-A41N-08 Untested Somatic Phase_I WXS none Illumina GAIIx e45d5e62-ce70-466d-b4b3-620d70c95651 0f1a5b46-d751-426a-917c-fac53a697f81 g.chr6:89790855G>A ENST00000336032.3 + 1 359 c.242G>A c.(241-243)cGc>cAc p.R81H PNRC1_ENST00000369472.1_Intron NM_006813.2 NP_006804.1 Q12796 PNRC1_HUMAN proline-rich nuclear receptor coactivator 1 81 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus protein binding endometrium(1)|large_intestine(2)|lung(3) 6 all_cancers(76;3.64e-06)|Acute lymphoblastic leukemia(125;2.23e-10)|Prostate(29;5.55e-10)|all_hematologic(105;2.42e-06)|all_epithelial(107;0.00527) BRCA - Breast invasive adenocarcinoma(108;0.102) CTGCCCAACCGCAGCCTCGCC 0.716000 Multiple Myeloma(7;0.094) 5 7 0 0 1 0 0 ZAN 7455 broad.mit.edu 37 7 100350298 100350298 + RNA SNP C C T TCGA-G9-A9S7-01A-11D-A41K-08 TCGA-G9-A9S7-10A-01D-A41N-08 Untested Somatic Phase_I WXS none Illumina GAIIx e45d5e62-ce70-466d-b4b3-620d70c95651 0f1a5b46-d751-426a-917c-fac53a697f81 g.chr7:100350298C>T ENST00000542585.1 + 0 2718 ZAN_ENST00000427578.1_RNA|ZAN_ENST00000449052.1_RNA|ZAN_ENST00000443370.1_RNA|ZAN_ENST00000538115.1_RNA|ZAN_ENST00000348028.3_RNA|ZAN_ENST00000421100.1_RNA|ZAN_ENST00000546292.1_RNA|ZAN_ENST00000349350.6_RNA|ZAN_ENST00000546213.1_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) ACAGAAAAACCCACCATCCCC 0.498000 4 121 0 0 1 0 0 HS6ST1 9394 broad.mit.edu 37 2 129026005 129026005 + Missense_Mutation SNP G G A TCGA-G9-A9S7-01A-11D-A41K-08 TCGA-G9-A9S7-10A-01D-A41N-08 Untested Somatic Phase_I WXS none Illumina GAIIx e45d5e62-ce70-466d-b4b3-620d70c95651 0f1a5b46-d751-426a-917c-fac53a697f81 g.chr2:129026005G>A ENST00000259241.6 - 2 980 c.967C>T c.(967-969)Cgg>Tgg p.R323W NM_004807.2 NP_004798.3 O60243 H6ST1_HUMAN heparan sulfate 6-O-sulfotransferase 1 323 heparan sulfate proteoglycan biosynthetic process, enzymatic modification integral to plasma membrane sulfotransferase activity endometrium(3)|liver(1)|lung(7)|pancreas(1)|prostate(2)|skin(1) 15 Colorectal(110;0.1) BRCA - Breast invasive adenocarcinoma(221;0.117) CCGCCCGCCCGCGTGCTATTG 0.597000 8 22 0 0 1 0 0 KRTAP9-9 81870 broad.mit.edu 37 17 39411940 39411940 + Silent SNP C C T TCGA-G9-A9S7-01A-11D-A41K-08 TCGA-G9-A9S7-10A-01D-A41N-08 Untested Somatic Phase_I WXS none Illumina GAIIx e45d5e62-ce70-466d-b4b3-620d70c95651 0f1a5b46-d751-426a-917c-fac53a697f81 g.chr17:39411940C>T ENST00000394008.1 + 1 305 c.303C>T c.(301-303)ggC>ggT p.G101G NM_030975.2 NP_112237.2 B5MDD6 B5MDD6_HUMAN keratin associated protein 9-9 101 keratin filament endometrium(3)|skin(2)|upper_aerodigestive_tract(1) 6 Breast(137;0.000496) STAD - Stomach adenocarcinoma(17;0.000397) CCAGCTGTGGCCAGAGCAGCT 0.617000 4 81 0 0 1 0 0 RP11-156P1.3 0 broad.mit.edu 37 17 45128792 45128792 + RNA SNP G G T rs143713325 by1000genomes TCGA-G9-A9S7-01A-11D-A41K-08 TCGA-G9-A9S7-10A-01D-A41N-08 Untested Somatic Phase_I WXS none Illumina GAIIx e45d5e62-ce70-466d-b4b3-620d70c95651 0f1a5b46-d751-426a-917c-fac53a697f81 g.chr17:45128792G>T ENST00000575173.1 - 0 418 AATTCAGGTTGTCAGAATGCA 0.373000 7 46 0.00307968 0.00307968 1 1 0 AC008103.5 0 broad.mit.edu 37 22 18844763 18844763 + RNA SNP T T C TCGA-G9-A9S7-01A-11D-A41K-08 TCGA-G9-A9S7-10A-01D-A41N-08 Untested Somatic Phase_I WXS none Illumina GAIIx e45d5e62-ce70-466d-b4b3-620d70c95651 0f1a5b46-d751-426a-917c-fac53a697f81 g.chr22:18844763T>C ENST00000412938.1 + 0 3013 TCACAGCCTCTGAGGGCAGCA 0.562000 4 8 0 0 1 0 0 MUC16 94025 broad.mit.edu 37 19 9088094 9088094 + Missense_Mutation SNP T T A TCGA-G9-A9S7-01A-11D-A41K-08 TCGA-G9-A9S7-10A-01D-A41N-08 Untested Somatic Phase_I WXS none Illumina GAIIx e45d5e62-ce70-466d-b4b3-620d70c95651 0f1a5b46-d751-426a-917c-fac53a697f81 g.chr19:9088094T>A ENST00000397910.4 - 1 3924 c.3721A>T c.(3721-3723)Acc>Tcc p.T1241S NM_024690.2 NP_078966.2 Q8WXI7 MUC16_HUMAN mucin 16, cell surface associated 1241 Thr-rich. cell adhesion extracellular space|extrinsic to membrane|integral to membrane|plasma membrane protein binding NS(9)|autonomic_ganglia(1)|breast(26)|central_nervous_system(11)|cervix(1)|endometrium(46)|haematopoietic_and_lymphoid_tissue(5)|kidney(35)|large_intestine(91)|liver(1)|lung(278)|ovary(17)|pancreas(2)|prostate(17)|skin(18)|soft_tissue(1)|stomach(8)|upper_aerodigestive_tract(16)|urinary_tract(7) 590 TCAGGGTAGGTGCTGAGGGTT 0.507000 5 277 0 0 1 0 0 U2AF1 7307 broad.mit.edu 37 21 44524456 44524456 + Missense_Mutation SNP G G A TCGA-G9-A9S7-01A-11D-A41K-08 TCGA-G9-A9S7-10A-01D-A41N-08 Untested Somatic Phase_I WXS none Illumina GAIIx e45d5e62-ce70-466d-b4b3-620d70c95651 0f1a5b46-d751-426a-917c-fac53a697f81 g.chr21:44524456G>A ENST00000291552.4 - 2 193 c.101C>T c.(100-102)tCt>tTt p.S34F U2AF1_ENST00000459639.1_5'UTR|U2AF1_ENST00000398137.1_5'UTR|U2AF1_ENST00000380276.2_Missense_Mutation_p.S34F|U2AF1_ENST00000486519.1_5'UTR NM_006758.2 NP_006749.1 Q01081 U2AF1_HUMAN U2 small nuclear RNA auxiliary factor 1 34 mRNA 3'-end processing|mRNA export from nucleus|termination of RNA polymerase II transcription Cajal body|catalytic step 2 spliceosome|nuclear speck nucleotide binding|RNA binding|zinc ion binding p.S34F(45)|p.S34Y(12) breast(1)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(111)|large_intestine(2)|lung(7)|prostate(2)|skin(1) 126 GTGCAACCGAGAGCACCTGTC 0.358000 Mis """CLL, MDS""" 8 24 0 0 1 0 0 PARP16 54956 broad.mit.edu 37 15 65551824 65551824 + Missense_Mutation SNP A A T TCGA-G9-A9S7-01A-11D-A41K-08 TCGA-G9-A9S7-10A-01D-A41N-08 Untested Somatic Phase_I WXS none Illumina GAIIx e45d5e62-ce70-466d-b4b3-620d70c95651 0f1a5b46-d751-426a-917c-fac53a697f81 g.chr15:65551824A>T ENST00000261888.6 - 6 1338 c.893T>A c.(892-894)cTg>cAg p.L298Q PARP16_ENST00000444347.2_Missense_Mutation_p.L182Q NM_017851.4 NP_060321.3 Q8N5Y8 PAR16_HUMAN poly (ADP-ribose) polymerase family, member 16 297 Poly-Leu. integral to membrane NAD+ ADP-ribosyltransferase activity kidney(1)|large_intestine(1)|lung(5)|prostate(1)|skin(1) 9 CAGCAGATACAGGGATATCAT 0.473000 6 56 0 0 1 0 0 ADAM23 8745 broad.mit.edu 37 2 207436508 207436508 + Missense_Mutation SNP G G A TCGA-G9-A9S7-01A-11D-A41K-08 TCGA-G9-A9S7-10A-01D-A41N-08 Untested Somatic Phase_I WXS none Illumina GAIIx e45d5e62-ce70-466d-b4b3-620d70c95651 0f1a5b46-d751-426a-917c-fac53a697f81 g.chr2:207436508G>A ENST00000264377.3 + 17 1952 c.1624G>A c.(1624-1626)Gac>Aac p.D542N ADAM23_ENST00000374416.1_Missense_Mutation_p.D542N|ADAM23_ENST00000374415.3_Missense_Mutation_p.D542N NM_003812.2 NP_003803.1 O75077 ADA23_HUMAN ADAM metallopeptidase domain 23 542 Disintegrin. cell adhesion|central nervous system development|proteolysis extracellular region|integral to plasma membrane integrin binding|metalloendopeptidase activity|zinc ion binding NS(2)|breast(1)|endometrium(6)|kidney(3)|large_intestine(5)|liver(2)|lung(22)|ovary(2)|prostate(3)|skin(3)|stomach(1)|urinary_tract(1) 51 LUSC - Lung squamous cell carcinoma(261;0.0961)|Lung(261;0.182)|Epithelial(149;0.205) TCACTGCAGCGACGGGCCCTG 0.443000 11 24 0 0 1 0 0 AC008103.5 0 broad.mit.edu 37 22 18844888 18844888 + RNA SNP A A G TCGA-G9-A9S7-01A-11D-A41K-08 TCGA-G9-A9S7-10A-01D-A41N-08 Untested Somatic Phase_I WXS none Illumina GAIIx e45d5e62-ce70-466d-b4b3-620d70c95651 0f1a5b46-d751-426a-917c-fac53a697f81 g.chr22:18844888A>G ENST00000412938.1 + 0 3138 GCTCACGGAAATACAGCTTCA 0.587000 5 26 0 0 1 0 0 AHNAK 79026 broad.mit.edu 37 11 62295522 62295522 + Missense_Mutation SNP C C T TCGA-G9-A9S7-01A-11D-A41K-08 TCGA-G9-A9S7-10A-01D-A41N-08 Untested Somatic Phase_I WXS none Illumina GAIIx e45d5e62-ce70-466d-b4b3-620d70c95651 0f1a5b46-d751-426a-917c-fac53a697f81 g.chr11:62295522C>T ENST00000378024.4 - 5 6641 c.6367G>A c.(6367-6369)Gac>Aac p.D2123N AHNAK_ENST00000530124.1_Intron|AHNAK_ENST00000257247.7_Intron NM_001620.1 NP_001611.1 Q09666 AHNK_HUMAN AHNAK nucleoprotein 2123 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) AAGTGTAAGTCCACATCAGGC 0.522000 6 272 0 0 1 0 0 UBBP4 0 broad.mit.edu 37 17 21730916 21730916 + Missense_Mutation SNP G G T rs111245273 by1000genomes TCGA-G9-A9S7-01A-11D-A41K-08 TCGA-G9-A9S7-10A-01D-A41N-08 Untested Somatic Phase_I WXS none Illumina GAIIx e45d5e62-ce70-466d-b4b3-620d70c95651 0f1a5b46-d751-426a-917c-fac53a697f81 g.chr17:21730916G>T ENST00000584755.1 + 2 615 c.218G>T c.(217-219)cGg>cTg p.R73L UBBP4_ENST00000584398.1_Intron|UBBP4_ENST00000583708.1_Intron|UBBP4_ENST00000578713.1_Missense_Mutation_p.R73L p.R73L(24) endometrium(9)|kidney(4)|lung(4)|prostate(3)|urinary_tract(4) 24 GTCCTGCGTCGGAGAGGTGGT 0.552000 4 47 0.00024832 0.000252391 1 1 0 ZNF710 374655 broad.mit.edu 37 15 90610702 90610702 + Silent SNP C C T TCGA-G9-A9S7-01A-11D-A41K-08 TCGA-G9-A9S7-10A-01D-A41N-08 Untested Somatic Phase_I WXS none Illumina GAIIx e45d5e62-ce70-466d-b4b3-620d70c95651 0f1a5b46-d751-426a-917c-fac53a697f81 g.chr15:90610702C>T ENST00000268154.4 + 2 584 c.333C>T c.(331-333)ttC>ttT p.F111F NM_198526.2 NP_940928.2 Q8N1W2 ZN710_HUMAN zinc finger protein 710 111 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding breast(1)|central_nervous_system(2)|endometrium(2)|kidney(2)|large_intestine(4)|lung(1)|ovary(2)|prostate(1)|stomach(1)|urinary_tract(3) 19 Melanoma(11;0.00551)|Lung NSC(78;0.0196)|all_lung(78;0.04) BRCA - Breast invasive adenocarcinoma(143;0.00769)|KIRC - Kidney renal clear cell carcinoma(17;0.0286)|Kidney(142;0.0514)|STAD - Stomach adenocarcinoma(125;0.129) AGGTCAAGTTCGAGAAGGTGG 0.657000 3 14 0 0 1 0 0 LL22NC03-80A10.6 0 broad.mit.edu 37 22 22663086 22663086 + RNA SNP T T G rs1054157 by1000genomes TCGA-G9-A9S7-01A-11D-A41K-08 TCGA-G9-A9S7-10A-01D-A41N-08 Untested Somatic Phase_I WXS none Illumina GAIIx e45d5e62-ce70-466d-b4b3-620d70c95651 0f1a5b46-d751-426a-917c-fac53a697f81 g.chr22:22663086T>G ENST00000426066.1 + 0 525 NR_027293.1 AGCTGCCACATAAGTTGTCCT 0.299000 4 27 0 0 1 0 0 PCDHGA7 0 broad.mit.edu 37 5 140764756 140764756 + Missense_Mutation SNP C C T TCGA-G9-A9S7-01A-11D-A41K-08 TCGA-G9-A9S7-10A-01D-A41N-08 Untested Somatic Phase_I WXS none Illumina GAIIx e45d5e62-ce70-466d-b4b3-620d70c95651 0f1a5b46-d751-426a-917c-fac53a697f81 g.chr5:140764756C>T ENST00000518325.1 + 1 2290 c.2290C>T c.(2290-2292)Cgg>Tgg p.R764W PCDHGB3_ENST00000576222.1_Intron|PCDHGB1_ENST00000523390.1_Intron|PCDHGB2_ENST00000522605.1_Intron|PCDHGA6_ENST00000517434.1_Intron|PCDHGA4_ENST00000571252.1_Intron|PCDHGA3_ENST00000253812.6_Intron|PCDHGA2_ENST00000394576.2_Intron|PCDHGA5_ENST00000518069.1_Intron|PCDHGA1_ENST00000517417.1_Intron NM_018920.2 NP_061743.1 NS(1)|biliary_tract(1)|endometrium(8)|kidney(4)|large_intestine(10)|lung(19)|ovary(1)|skin(1)|stomach(3)|urinary_tract(1) 49 KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191) CGCGGACTCTCGGAAGAGTCA 0.542000 30 100 0 0 1 0 0 FAM86A 196483 broad.mit.edu 37 16 5139146 5139146 + Missense_Mutation SNP C C T rs147678499 byFrequency TCGA-G9-A9S7-01A-11D-A41K-08 TCGA-G9-A9S7-10A-01D-A41N-08 Untested Somatic Phase_I WXS none Illumina GAIIx e45d5e62-ce70-466d-b4b3-620d70c95651 0f1a5b46-d751-426a-917c-fac53a697f81 g.chr16:5139146C>T ENST00000427587.4 - 7 922 c.854G>A c.(853-855)cGc>cAc p.R285H FAM86A_ENST00000458008.4_Missense_Mutation_p.R251H|FAM86A_ENST00000587133.1_Missense_Mutation_p.R224H NM_201400.2 NP_958802.1 Q96G04 FA86A_HUMAN family with sequence similarity 86, member A 285 endometrium(1)|large_intestine(2)|lung(4)|prostate(3)|skin(2) 12 CTCTGGGTTGCGGACGGTAAA 0.677000 5 99 0 0 1 0 0 TGIF2LY 90655 broad.mit.edu 37 Y 3447294 3447294 + Silent SNP C C G TCGA-G9-A9S7-01A-11D-A41K-08 TCGA-G9-A9S7-10A-01D-A41N-08 Untested Somatic Phase_I WXS none Illumina GAIIx e45d5e62-ce70-466d-b4b3-620d70c95651 0f1a5b46-d751-426a-917c-fac53a697f81 g.chrY:3447294C>G ENST00000559055.2 + 1 139 c.9C>G c.(7-9)gcC>gcG p.A3A TGIF2LY_ENST00000321217.4_Silent_p.A3A Q8IUE0 TF2LY_HUMAN TGFB-induced factor homeobox 2-like, Y-linked 3 nucleus sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity kidney(1)|upper_aerodigestive_tract(1) 2 ATATGGAGGCCGCTGCAGACG 0.507000 4 10 0 0 1 0 0 DTX3L 151636 broad.mit.edu 37 3 122287807 122287807 + Missense_Mutation SNP C C T TCGA-G9-A9S7-01A-11D-A41K-08 TCGA-G9-A9S7-10A-01D-A41N-08 Untested Somatic Phase_I WXS none Illumina GAIIx e45d5e62-ce70-466d-b4b3-620d70c95651 0f1a5b46-d751-426a-917c-fac53a697f81 g.chr3:122287807C>T ENST00000296161.4 + 3 1060 c.871C>T c.(871-873)Cgt>Tgt p.R291C DTX3L_ENST00000383661.3_Intron NM_138287.3 NP_612144.1 Q8TDB6 DTX3L_HUMAN deltex 3-like (Drosophila) 291 histone monoubiquitination|response to DNA damage stimulus cytoplasm|nucleus histone binding|ubiquitin-protein ligase activity|zinc ion binding breast(2)|endometrium(2)|kidney(1)|large_intestine(3)|lung(12)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1) 24 GBM - Glioblastoma multiforme(114;0.0459) GGAAGCAGCTCGTGAGTCTTT 0.403000 21 43 0 0 1 0 0 KIAA0430 9665 broad.mit.edu 37 16 15705570 15705570 + Missense_Mutation SNP G G A TCGA-G9-A9S7-01A-11D-A41K-08 TCGA-G9-A9S7-10A-01D-A41N-08 Untested Somatic Phase_I WXS none Illumina GAIIx e45d5e62-ce70-466d-b4b3-620d70c95651 0f1a5b46-d751-426a-917c-fac53a697f81 g.chr16:15705570G>A ENST00000396368.3 - 18 3702 c.3496C>T c.(3496-3498)Cgt>Tgt p.R1166C KIAA0430_ENST00000551742.1_Missense_Mutation_p.R1166C|KIAA0430_ENST00000548025.1_Missense_Mutation_p.R1163C|KIAA0430_ENST00000540441.2_Missense_Mutation_p.R1001C|KIAA0430_ENST00000602337.1_Missense_Mutation_p.R1163C|KIAA0430_ENST00000344181.3_Missense_Mutation_p.R768C NM_001184998.1|NM_001184999.1|NM_014647.3 NP_001171927.1|NP_001171928.1|NP_055462.2 Q9Y4F3 LKAP_HUMAN KIAA0430 1165 peroxisome nucleotide binding|RNA binding breast(4)|endometrium(8)|kidney(4)|large_intestine(2)|lung(13)|ovary(3)|prostate(5)|skin(1) 40 GTCAGCAGACGTTTGGAGCCC 0.478000 15 44 0 0 1 0 0 PICK1 9463 broad.mit.edu 37 22 38468599 38468599 + Silent SNP T T A TCGA-G9-A9S7-01A-11D-A41K-08 TCGA-G9-A9S7-10A-01D-A41N-08 Untested Somatic Phase_I WXS none Illumina GAIIx e45d5e62-ce70-466d-b4b3-620d70c95651 0f1a5b46-d751-426a-917c-fac53a697f81 g.chr22:38468599T>A ENST00000404072.3 + 9 1019 c.672T>A c.(670-672)ctT>ctA p.L224L PICK1_ENST00000356976.3_Silent_p.L224L|RP5-1039K5.13_ENST00000445483.1_RNA NM_001039583.1|NM_001039584.1 NP_001034672.1|NP_001034673.1 Q9NRD5 PICK1_HUMAN protein interacting with PRKCA 1 224 AH. activation of protein kinase C activity by G-protein coupled receptor protein signaling pathway|DNA methylation involved in embryo development|DNA methylation involved in gamete generation|monoamine transport|neuronal ion channel clustering|protein phosphorylation|receptor clustering|retrograde vesicle-mediated transport, Golgi to ER|synaptic transmission cell junction|endocytic vesicle membrane|Golgi apparatus|perinuclear region of cytoplasm|presynaptic membrane ATPase activity|metal ion binding|protein C-terminus binding|protein kinase C binding|receptor binding cervix(1)|endometrium(3)|large_intestine(1)|lung(6)|prostate(1)|upper_aerodigestive_tract(1) 13 Melanoma(58;0.045) GCATTCGGCTTCTGAAAACCA 0.597000 30 84 0 0 1 0 0 RSPH10B2 728194 broad.mit.edu 37 7 6797531 6797531 + Missense_Mutation SNP G G C TCGA-G9-A9S7-01A-11D-A41K-08 TCGA-G9-A9S7-10A-01D-A41N-08 Untested Somatic Phase_I WXS none Illumina GAIIx e45d5e62-ce70-466d-b4b3-620d70c95651 0f1a5b46-d751-426a-917c-fac53a697f81 g.chr7:6797531G>C ENST00000403107.1 + 2 610 c.223G>C c.(223-225)Gag>Cag p.E75Q RSPH10B2_ENST00000359718.3_5'UTR|RSPH10B2_ENST00000297186.3_Missense_Mutation_p.E75Q|RSPH10B2_ENST00000404077.1_Missense_Mutation_p.E75Q|RSPH10B2_ENST00000433859.2_Missense_Mutation_p.E75Q radial spoke head 10 homolog B2 (Chlamydomonas) breast(3)|endometrium(1)|large_intestine(4)|lung(2)|ovary(2)|pancreas(1)|skin(2) 15 CCAATACGAAGAGTCCATTCT 0.468000 44 209 0 0 1 0 0 HSPA2 3306 broad.mit.edu 37 14 65008203 65008203 + Silent SNP C C T TCGA-G9-A9S7-01A-11D-A41K-08 TCGA-G9-A9S7-10A-01D-A41N-08 Untested Somatic Phase_I WXS none Illumina GAIIx e45d5e62-ce70-466d-b4b3-620d70c95651 0f1a5b46-d751-426a-917c-fac53a697f81 g.chr14:65008203C>T ENST00000247207.6 + 1 1018 c.636C>T c.(634-636)atC>atT p.I212I HSPA2_ENST00000394709.1_Silent_p.I212I|HSPA2_ENST00000554883.1_3'UTR NM_021979.3 NP_068814.2 P54652 HSP72_HUMAN heat shock 70kDa protein 2 212 response to unfolded protein|spermatid development cell surface ATP binding|unfolded protein binding breast(1)|endometrium(4)|large_intestine(3)|lung(7)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2) 22 all cancers(60;0.00515)|OV - Ovarian serous cystadenocarcinoma(108;0.00584)|BRCA - Breast invasive adenocarcinoma(234;0.045) ACGTGTCCATCCTGACCATCG 0.652000 4 63 0 0 1 0 0 PRKCZ 5590 broad.mit.edu 37 1 2077532 2077532 + Missense_Mutation SNP G G C TCGA-G9-A9S7-01A-11D-A41K-08 TCGA-G9-A9S7-10A-01D-A41N-08 Untested Somatic Phase_I WXS none Illumina GAIIx e45d5e62-ce70-466d-b4b3-620d70c95651 0f1a5b46-d751-426a-917c-fac53a697f81 g.chr1:2077532G>C ENST00000400921.2 + 4 753 c.70G>C c.(70-72)Gag>Cag p.E24Q PRKCZ_ENST00000479263.1_3'UTR|PRKCZ_ENST00000400920.1_Missense_Mutation_p.E24Q NM_001033581.1 NP_001028753.1 Q05513 KPCZ_HUMAN protein kinase C, zeta 207 OPR. anti-apoptosis|intracellular signal transduction|negative regulation of insulin receptor signaling pathway|negative regulation of peptidyl-tyrosine phosphorylation|negative regulation of protein complex assembly|peptidyl-serine phosphorylation|platelet activation endosome ATP binding|protein kinase C activity|zinc ion binding breast(2)|central_nervous_system(4)|endometrium(1)|large_intestine(5)|lung(5)|stomach(1) 18 all_cancers(77;0.000177)|all_epithelial(69;6.41e-05)|all_lung(157;0.00963)|Lung NSC(156;0.0232)|Ovarian(185;0.0634) all_epithelial(116;1.14e-19)|all_lung(118;1.22e-08)|Lung NSC(185;1.24e-06)|Renal(390;0.00183)|Breast(487;0.00354)|Hepatocellular(190;0.00826)|Myeloproliferative disorder(586;0.0122)|Ovarian(437;0.0308)|Medulloblastoma(700;0.123)|Lung SC(97;0.128) Epithelial(90;2.96e-37)|OV - Ovarian serous cystadenocarcinoma(86;3.3e-23)|GBM - Glioblastoma multiforme(42;2.85e-08)|Colorectal(212;6.15e-05)|COAD - Colon adenocarcinoma(227;0.000241)|Kidney(185;0.00294)|BRCA - Breast invasive adenocarcinoma(365;0.00493)|STAD - Stomach adenocarcinoma(132;0.00669)|KIRC - Kidney renal clear cell carcinoma(229;0.0411)|Lung(427;0.213) CCTTCCTTCCGAGGAGACAGA 0.582000 5 27 0 0 1 0 0 TAF1L 138474 broad.mit.edu 37 9 32632973 32632973 + Missense_Mutation SNP C C T TCGA-G9-A9S7-01A-11D-A41K-08 TCGA-G9-A9S7-10A-01D-A41N-08 Untested Somatic Phase_I WXS none Illumina GAIIx e45d5e62-ce70-466d-b4b3-620d70c95651 0f1a5b46-d751-426a-917c-fac53a697f81 g.chr9:32632973C>T ENST00000242310.4 - 1 2694 c.2605G>A c.(2605-2607)Gct>Act p.A869T NM_153809.2 NP_722516.1 Q8IZX4 TAF1L_HUMAN TAF1 RNA polymerase II, TATA box binding protein (TBP)-associated factor, 210kDa-like 869 male meiosis|positive regulation of transcription, DNA-dependent|regulation of transcription from RNA polymerase II promoter|transcription initiation, DNA-dependent transcription factor TFIID complex DNA binding|histone acetyltransferase activity|protein serine/threonine kinase activity|TBP-class protein binding p.A869T(1) breast(6)|central_nervous_system(4)|endometrium(14)|kidney(11)|large_intestine(32)|liver(2)|lung(68)|ovary(2)|pancreas(2)|prostate(7)|skin(9)|stomach(1)|upper_aerodigestive_tract(1) 159 LUSC - Lung squamous cell carcinoma(29;0.0181) GBM - Glioblastoma multiforme(74;0.00301) TTGAAGTCAGCGCAGAGCTTT 0.463000 4 152 0 0 1 0 0 ZNF727 442319 broad.mit.edu 37 7 63538401 63538401 + Missense_Mutation SNP C C T TCGA-G9-A9S7-01A-11D-A41K-08 TCGA-G9-A9S7-10A-01D-A41N-08 Untested Somatic Phase_I WXS none Illumina GAIIx e45d5e62-ce70-466d-b4b3-620d70c95651 0f1a5b46-d751-426a-917c-fac53a697f81 g.chr7:63538401C>T ENST00000550760.3 + 4 1153 c.974C>T c.(973-975)tCg>tTg p.S325L NM_001159522.1 NP_001152994.1 A8MUV8 ZN727_HUMAN zinc finger protein 727 325 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding p.S325L(1) endometrium(3)|kidney(2)|skin(1)|stomach(1)|urinary_tract(1) 8 ATGTGGATCTCGGCCCTTAGT 0.403000 10 11 0 0 1 0 0 NRXN3 9369 broad.mit.edu 37 14 80271468 80271468 + Missense_Mutation SNP A A C TCGA-G9-A9S7-01A-11D-A41K-08 TCGA-G9-A9S7-10A-01D-A41N-08 Untested Somatic Phase_I WXS none Illumina GAIIx e45d5e62-ce70-466d-b4b3-620d70c95651 0f1a5b46-d751-426a-917c-fac53a697f81 g.chr14:80271468A>C ENST00000281127.7 + 5 1802 c.923A>C c.(922-924)gAt>gCt p.D308A NRXN3_ENST00000556003.1_Intron|NRXN3_ENST00000557594.1_Missense_Mutation_p.D308A|NRXN3_ENST00000428277.2_Missense_Mutation_p.D338A|NRXN3_ENST00000335750.5_Missense_Mutation_p.D940A|NRXN3_ENST00000554719.1_Missense_Mutation_p.D940A NM_138970.3 NP_620426.2 Q9HDB5 NRX3B_HUMAN neurexin 3 308 angiogenesis|cell adhesion integral to membrane NS(1)|breast(4)|central_nervous_system(1)|endometrium(6)|kidney(2)|large_intestine(23)|lung(40)|ovary(3)|pancreas(2)|prostate(5)|skin(7)|upper_aerodigestive_tract(9)|urinary_tract(1) 104 Renal(4;0.00876) BRCA - Breast invasive adenocarcinoma(234;0.00544)|Kidney(3;0.029)|KIRC - Kidney renal clear cell carcinoma(182;0.223) ACATCAGATGATCTTGTTTCA 0.388000 33 65 0 0 1 0 0 CDH16 1014 broad.mit.edu 37 16 66946227 66946227 + Missense_Mutation SNP G G A TCGA-G9-A9S7-01A-11D-A41K-08 TCGA-G9-A9S7-10A-01D-A41N-08 Untested Somatic Phase_I WXS none Illumina GAIIx e45d5e62-ce70-466d-b4b3-620d70c95651 0f1a5b46-d751-426a-917c-fac53a697f81 g.chr16:66946227G>A ENST00000299752.4 - 12 1659 c.1466C>T c.(1465-1467)gCc>gTc p.A489V CDH16_ENST00000568632.1_Missense_Mutation_p.A392V|CDH16_ENST00000570262.1_Missense_Mutation_p.A409V|CDH16_ENST00000565796.1_Missense_Mutation_p.A489V|CDH16_ENST00000394055.3_Missense_Mutation_p.A489V NM_001204744.1|NM_001204745.1|NM_004062.3 NP_001191673.1|NP_001191674.1|NP_004053.1 O75309 CAD16_HUMAN cadherin 16, KSP-cadherin 489 Cadherin 5. homophilic cell adhesion integral to membrane|plasma membrane calcium ion binding endometrium(1)|kidney(3)|large_intestine(10)|lung(15)|ovary(2)|prostate(2)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 41 Ovarian(137;0.0563) OV - Ovarian serous cystadenocarcinoma(108;0.0877)|Epithelial(162;0.203) CCTCTCAATGGCAAAATCCAT 0.577000 3 58 0 0 1 0 0 FAM43B 163933 broad.mit.edu 37 1 20880268 20880270 + In_Frame_Del DEL GAG GAG - TCGA-G9-A9S7-01A-11D-A41K-08 TCGA-G9-A9S7-10A-01D-A41N-08 Untested Somatic Phase_I WXS none Illumina GAIIx e45d5e62-ce70-466d-b4b3-620d70c95651 0f1a5b46-d751-426a-917c-fac53a697f81 g.chr1:20880268_20880270delGAG ENST00000332947.4 + 1 1337_1339 c.802_804delGAG c.(802-804)del p.E272del NM_207334.2 NP_997217.1 Q6ZT52 FA43B_HUMAN family with sequence similarity 43, member B 272 large_intestine(1)|lung(2) 3 Colorectal(325;0.000147)|Renal(390;0.000469)|Lung NSC(340;0.00412)|all_lung(284;0.00419)|Breast(348;0.00979)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0427) UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|COAD - Colon adenocarcinoma(152;1.11e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000132)|Kidney(64;0.00016)|GBM - Glioblastoma multiforme(114;0.000399)|KIRC - Kidney renal clear cell carcinoma(64;0.00258)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.195) ggaggaggacgaggaggaggagg 0.744 3 3 --- --- --- --- RP11-93K22.13 0 broad.mit.edu 37 3 129811873 129811878 + RNA DEL AAAAAA AAAAAA - rs71158104 TCGA-G9-A9S7-01A-11D-A41K-08 TCGA-G9-A9S7-10A-01D-A41N-08 Untested Somatic Phase_I WXS none Illumina GAIIx e45d5e62-ce70-466d-b4b3-620d70c95651 0f1a5b46-d751-426a-917c-fac53a697f81 g.chr3:129811873_129811878delAAAAAA ENST00000514010.1 - 0 157 ALG1L2_ENST00000507643.1_RNA agtctgtcagaaaaaaaaaaaaaaaa 0.383 4 5 --- --- --- --- LMOD2 442721 broad.mit.edu 37 7 123302916 123302918 + In_Frame_Del DEL CCT CCT - TCGA-G9-A9S7-01A-11D-A41K-08 TCGA-G9-A9S7-10A-01D-A41N-08 Untested Somatic Phase_I WXS none Illumina GAIIx e45d5e62-ce70-466d-b4b3-620d70c95651 0f1a5b46-d751-426a-917c-fac53a697f81 g.chr7:123302916_123302918delCCT ENST00000458573.2 + 2 1433_1435 c.1276_1278delCCT c.(1276-1278)del p.P433del LMOD2_ENST00000456238.2_Intron NM_207163.1 NP_997046.1 Q6P5Q4 LMOD2_HUMAN leiomodin 2 (cardiac) 433 Pro-rich. cytoskeleton actin binding|tropomyosin binding tcctcctccccctcctcctcctc 0.591 3 5 --- --- --- ---